2,4-dienoyl-CoA reductase deficiency
type: Disease
mnemonic: DECRD
comment: A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia.

http://purl.uniprot.org/mim/616034
comment: phenotype
database: MIM

3-alpha-hydroxyacyl-CoA dehydrogenase deficiency
type: Disease
alternative label: HAD deficiency
alternative label: Hydroxyacyl-coenzyme A dehydrogenase deficiency
alternative label: SCHAD deficiency
mnemonic: HADH deficiency
comment: An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death.

http://purl.uniprot.org/mim/231530
comment: phenotype
database: MIM

3-hydroxy-3-methylglutaryl-CoA lyase deficiency
type: Disease
alternative label: HL deficiency
alternative label: HMGCL deficiency
alternative label: HMG-CoA lyase deficiency
alternative label: Hydroxymethylglutaricaciduria
alternative label: Hydroxymethylglutaric aciduria
mnemonic: HMGCLD
comment: An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases.

http://purl.uniprot.org/mim/246450
comment: phenotype
database: MIM

3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
type: Disease
alternative label: HMG-CoA synthase deficiency
alternative label: HMGCS2 deficiency
alternative label: HMGCS deficiency
alternative label: Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
alternative label: Mitochondrial HMG-CoA synthase deficiency
mnemonic: HMGCS2D
comment: A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly.

http://purl.uniprot.org/mim/605911
comment: phenotype
database: MIM

3-hydroxyisobutryl-CoA hydrolase deficiency
type: Disease
alternative label: Beta-hydroxyisobutyryl CoA deacylase deficiency
alternative label: Deficiency of beta-hydroxyisobutyryl CoA deacylase
alternative label: HIBCH deficiency
alternative label: Methacrylic acid toxicity
alternative label: Methacrylic aciduria
alternative label: Valine metabolic defect
mnemonic: HIBCHD
comment: An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.

http://purl.uniprot.org/mim/250620
comment: phenotype
database: MIM

3-ketothiolase deficiency
type: Disease
alternative label: Alpha-methylacetoaceticaciduria
mnemonic: 3KTD
comment: An autosomal recessive inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype.

http://purl.uniprot.org/mim/203750
comment: phenotype
database: MIM

3-methylcrotonoyl-CoA carboxylase 1 deficiency
type: Disease
alternative label: 3-methylcrotonylglycinuria type I
alternative label: MCC1 deficiency
alternative label: MCCD type 1
alternative label: MCGI
alternative label: Methylcrotonylglycinuria type I
mnemonic: MCC1D
comment: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

http://purl.uniprot.org/mim/210200
comment: phenotype
database: MIM

3-methylcrotonoyl-CoA carboxylase 2 deficiency
type: Disease
alternative label: 3-methylcrotonylglycinuria type II
alternative label: MCC2 deficiency
alternative label: MCGII
alternative label: Methylcrotonylglycinuria type II
mnemonic: MCC2D
comment: An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.

http://purl.uniprot.org/mim/210210
comment: phenotype
database: MIM

3-methylglutaconic aciduria 1
type: Disease
alternative label: 3-alpha-methylglutaconic aciduria type 1
alternative label: 3-alpha-methylglutaconyl-CoA hydratase deficiency
alternative label: 3-methylglutaconyl-CoA hydratase deficiency
alternative label: 3MG-CoA hydratase deficiency
alternative label: MGA1
alternative label: MGA type I
mnemonic: MGCA1
comment: An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGCA forms).

http://purl.uniprot.org/mim/250950
comment: phenotype
database: MIM

3-methylglutaconic aciduria 3
type: Disease
alternative label: 3-alpha-methylglutaconic aciduria type 3
alternative label: Costeff optic atrophy syndrome
alternative label: Costeff syndrome
alternative label: MGA3
alternative label: MGA type III
alternative label: Optic atrophy 3 autosomal recessive
alternative label: Optic atrophy plus syndrome
mnemonic: MGCA3
comment: An autosomal recessive metabolic disorder that causes a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels.

http://purl.uniprot.org/mim/258501
comment: phenotype
database: MIM

3-methylglutaconic aciduria 5
type: Disease
alternative label: 3-alpha-methylglutaconic aciduria type 5
alternative label: DCMA
alternative label: Dilated cardiomyopathy with ataxia
alternative label: MGA5
alternative label: MGA type V
mnemonic: MGCA5
comment: An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid.

http://purl.uniprot.org/mim/610198
comment: phenotype
database: MIM

3-methylglutaconic aciduria 7A
type: Disease
alternative label: 3-methylglutaconic aciduria, type VIIA, autosomal dominant
alternative label: 3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant
mnemonic: MGCA7A
comment: An autosomal dominant inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, impaired intellectual development, cataracts, seizures, and recurrent infections.

http://purl.uniprot.org/mim/619835
comment: phenotype
database: MIM

3-methylglutaconic aciduria 7B
type: Disease
alternative label: 3-methylglutaconic aciduria, type VII
alternative label: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia
alternative label: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
alternative label: MEGCANN
alternative label: MGCA7
mnemonic: MGCA7B
comment: An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections.

http://purl.uniprot.org/mim/616271
comment: phenotype
database: MIM

3-methylglutaconic aciduria 8
type: Disease
alternative label: 3-methylglutaconic aciduria, type VII
mnemonic: MGCA8
comment: An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3-methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy.

http://purl.uniprot.org/mim/617248
comment: phenotype
database: MIM

3-methylglutaconic aciduria 9
type: Disease
alternative label: 3-methylglutaconic aciduria, type IX
mnemonic: MGCA9
comment: An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria.

http://purl.uniprot.org/mim/617698
comment: phenotype
database: MIM

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
type: Disease
alternative label: 3-methylglutaconic aciduria, type VI
alternative label: 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome
alternative label: MEGDHEL
alternative label: MGCA6
mnemonic: MEGDEL
comment: An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells.

http://purl.uniprot.org/mim/614739
comment: phenotype
database: MIM

3M syndrome 1
type: Disease
alternative label: 3M syndrome-1
alternative label: Dolichospondylic dysplasia
alternative label: Gloomy face syndrome
alternative label: Le Merrer syndrome
alternative label: Miller-McKusick-Malvaux syndrome
alternative label: Three M syndrome
alternative label: Three M syndrome 1
alternative label: Yakut short stature syndrome
mnemonic: 3M1
comment: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.

http://purl.uniprot.org/mim/273750
comment: phenotype
database: MIM

3M syndrome 2
type: Disease
alternative label: 3M syndrome-2
alternative label: Three M syndrome 2
mnemonic: 3M2
comment: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.

http://purl.uniprot.org/mim/612921
comment: phenotype
database: MIM

3M syndrome 3
type: Disease
alternative label: 3M syndrome-3
alternative label: Three M syndrome 3
mnemonic: 3M3
comment: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.

http://purl.uniprot.org/mim/614205
comment: phenotype
database: MIM

3MC syndrome 1
type: Disease
alternative label: Craniosynostosis with lid anomalies
alternative label: Michels syndrome
alternative label: Oculopalatoskeletal syndrome
mnemonic: 3MC1
comment: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.

http://purl.uniprot.org/mim/257920
comment: phenotype
database: MIM

3MC syndrome 2
type: Disease
alternative label: Carnevale Krajewska Fischetto syndrome
alternative label: Carnevale syndrome
alternative label: Oculo-skeletal-abdominal syndrome
alternative label: OSA syndrome
alternative label: Ptosis of eyelids with diastasis recti and hip dysplasia
mnemonic: 3MC2
comment: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.

http://purl.uniprot.org/mim/265050
comment: phenotype
database: MIM

3MC syndrome 3
type: Disease
alternative label: Facial clefting syndrome Gypsy type
alternative label: Malpuech facial clefting syndrome
alternative label: Malpuech syndrome
mnemonic: 3MC3
comment: A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.

http://purl.uniprot.org/mim/248340
comment: phenotype
database: MIM

46,XX sex reversal 1
type: Disease
alternative label: 46,XX gonadal dysgenesis complete SRY-positive
alternative label: 46,XX sex reversal SRY-positive
alternative label: 46,XX testicular disorder of sex development
alternative label: 46,XX true hermaphroditism SRY-positive
alternative label: Ovotesticular disorder of sex development
alternative label: Ovotesticular DSD
alternative label: XX male SRY-positive
mnemonic: SRXX1
comment: A condition in which male gonads develop in a genetic female (female to male sex reversal).

http://purl.uniprot.org/mim/400045
comment: phenotype
database: MIM

46,XX sex reversal 2
type: Disease
alternative label: 46,XX sex reversal partial or complete SOX9-related
mnemonic: SRXX2
comment: A condition in which male gonads develop in a genetic female (female to male sex reversal).

http://purl.uniprot.org/mim/278850
comment: phenotype
database: MIM

46,XX sex reversal 3
type: Disease
alternative label: 46,XX male sex reversal SOX3-related
mnemonic: SRXX3
comment: A condition in which male gonads develop in a genetic female (female to male sex reversal).

http://purl.uniprot.org/mim/300833
comment: phenotype
database: MIM

46,XX sex reversal 4
type: Disease
alternative label: 46,XX sex reversal SRY-negative
mnemonic: SRXX4
comment: A condition in which male gonads develop in a genetic female (female to male sex reversal).

http://purl.uniprot.org/mim/617480
comment: phenotype
database: MIM

46,XX sex reversal 5
type: Disease
mnemonic: SRXX5
comment: A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618901
comment: phenotype
database: MIM

46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs
type: Disease
alternative label: SERKAL syndrome
mnemonic: SERKAL
comment: A disease characterized by the association of female-to-male sex reversal with dysgenesis of kidneys, adrenals, and lungs.

http://purl.uniprot.org/mim/611812
comment: phenotype
database: MIM

46,XY gonadal dysgenesis with minifascicular neuropathy
type: Disease
mnemonic: GDMN
comment: An autosomal recessive disorder characterized by gonadal dysgenesis associated with polyneuropathy. Genital anomalies include the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity.

http://purl.uniprot.org/mim/607080
comment: phenotype
database: MIM

46,XY sex reversal 1
type: Disease
alternative label: 46,XY gonadal dysgenesis complete SRY-related
alternative label: 46,XY sex reversal SRY-related
alternative label: 46,XY true hermaphroditism SRY-related
alternative label: Gonadal dysgenesis XY female type
alternative label: Swyer syndrome
alternative label: XY females
mnemonic: SRXY1
comment: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal.

http://purl.uniprot.org/mim/400044
comment: phenotype
database: MIM

46,XY sex reversal 10
type: Disease
alternative label: Chromosome 17q24 deletion syndrome
mnemonic: SRXY10
comment: A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate.

http://purl.uniprot.org/mim/616425
comment: phenotype
database: MIM

46,XY sex reversal 11
type: Disease
alternative label: Anorchia, familial
alternative label: Testicular regression, embryonic
alternative label: Testicular regression syndrome
alternative label: TRS
alternative label: XY gonadal agenesis/dysgenesis syndrome
mnemonic: SRXY11
comment: An autosomal dominant disorder of sex development. Affected individuals have a 46,XY karyotype and a genital phenotype that may range from predominantly female to predominantly male, including marked sex ambiguity. Approximately half of patients present with micropenis and bilateral or unilateral cryptorchidism, and half present with female-appearing or ambiguous external genitalia.

http://purl.uniprot.org/mim/273250
comment: phenotype
database: MIM

46,XY sex reversal 2
type: Disease
alternative label: 46,XY sex reversal DAX1-related
alternative label: Dosage-sensitive sex reversal
alternative label: DSS
mnemonic: SRXY2
comment: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

http://purl.uniprot.org/mim/300018
comment: phenotype
database: MIM

46,XY sex reversal 3
type: Disease
alternative label: 46,XY disorder of sex development
alternative label: 46,XY sex reversal partial or complete NR5A1-related
alternative label: Complete or partial 46,XY gonadal dysgenesis with or without adrenal failure
alternative label: XY sex reversal with or without adrenal failure
mnemonic: SRXY3
comment: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.

http://purl.uniprot.org/mim/612965
comment: phenotype
database: MIM

46,XY sex reversal 4
type: Disease
alternative label: 46,XY gonadal dysgenesis complete or partial with 9p24.3 deletion
alternative label: Chromosome 9p24.3 deletion syndrome
mnemonic: SRXY4
comment: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion.

http://purl.uniprot.org/mim/154230
comment: phenotype
database: MIM

46,XY sex reversal 5
type: Disease
alternative label: 46,XY gonadal dysgenesis complete CBX2-related
alternative label: 46,XY sex reversal CBX2-related
alternative label: Disorder of sex development 46,XY CBX2-related
alternative label: Sex reversal XY CBX2-related
mnemonic: SRXY5
comment: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

http://purl.uniprot.org/mim/613080
comment: phenotype
database: MIM

46,XY sex reversal 6
type: Disease
alternative label: 46,XY gonadal dysgenesis partial or complete MAP3K1-related
alternative label: 46,XY sex reversal partial or complete MAP3K1-related
mnemonic: SRXY6
comment: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

http://purl.uniprot.org/mim/613762
comment: phenotype
database: MIM

46,XY sex reversal 7
type: Disease
alternative label: 46,XY gonadal dysgenesis, partial or complete, DHH-related
alternative label: 46,XY sex reversal, partial or complete, DHH-related
alternative label: Complete pure gonadal dysgenesis 46,XY type
alternative label: GDXYM
alternative label: Male-limited gonadal dysgenesis 46,XY
mnemonic: SRXY7
comment: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads.

http://purl.uniprot.org/mim/233420
comment: phenotype
database: MIM

46,XY sex reversal 8
type: Disease
alternative label: Male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
alternative label: TDD
mnemonic: SRXY8
comment: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

http://purl.uniprot.org/mim/614279
comment: phenotype
database: MIM

46,XY sex reversal 9
type: Disease
alternative label: 46,XY sex reversal, ZFPM2-related
mnemonic: SRXY9
comment: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females or have ambiguous external genitalia.

http://purl.uniprot.org/mim/616067
comment: phenotype
database: MIM

5-oxoprolinase deficiency
type: Disease
alternative label: Oxoprolinuria due to oxoprolinase deficiency
mnemonic: OPLAHD
comment: A disorder characterized by calcium oxalate/carbonate urolithiasis, and excessive urinary 5-oxo-L-proline. Affected individuals have recurrent episodes of vomiting, diarrhea, and abdominal pain.

http://purl.uniprot.org/mim/260005
comment: phenotype
database: MIM

Aaland island eye disease
type: Disease
alternative label: Aland island eye disease
alternative label: Forsius-Eriksson type ocular albinism
mnemonic: AIED
comment: A retinal disease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities in both photopic and scotopic functions.

http://purl.uniprot.org/mim/300600
comment: phenotype
database: MIM

Aarskog-Scott syndrome
type: Disease
alternative label: Faciodigitogenital syndrome
alternative label: Faciogenital dysplasia
alternative label: Faciogenital dysplasia with attention deficit-hyperactivity disorder
mnemonic: AAS
comment: An X-linked recessive, rare multisystemic disorder characterized by disproportionately short stature, and by facial, skeletal and urogenital anomalies. Some patients manifest intellectual disability, attention deficit disorder and hyperactivity.

http://purl.uniprot.org/mim/305400
comment: phenotype
database: MIM

ABCD syndrome
type: Disease
alternative label: Albinism, black lock, cell migration disorder of the neurocytes of the gut and deafness
mnemonic: ABCDS
comment: An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine.

http://purl.uniprot.org/mim/600501
comment: phenotype
database: MIM

Abdominal obesity-metabolic syndrome 3
type: Disease
alternative label: Central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease
mnemonic: AOMS3
comment: A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS3 is characterized by early-onset coronary artery disease, central obesity, hypertension, and diabetes.

http://purl.uniprot.org/mim/615812
comment: phenotype
database: MIM

Abdominal obesity-metabolic syndrome 4
type: Disease
mnemonic: AOMS4
comment: A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes.

http://purl.uniprot.org/mim/618620
comment: phenotype
database: MIM

Abetalipoproteinemia
type: Disease
alternative label: Acanthocytosis
alternative label: Bassen-Kornzweig syndrome
alternative label: Microsomal triglyceride transfer protein deficiency
alternative label: MTP deficiency
mnemonic: ABL
comment: An autosomal recessive disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, VLDL, LDL, lipoprotein(A)). Malabsorption of the antioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration.

http://purl.uniprot.org/mim/200100
comment: phenotype
database: MIM

Ablepharon-macrostomia syndrome
type: Disease
mnemonic: AMS
comment: A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.

http://purl.uniprot.org/mim/200110
comment: phenotype
database: MIM

Abnormal hair, joint laxity, and developmental delay
type: Disease
alternative label: Pili torti and developmental delay
mnemonic: HJDD
comment: An autosomal recessive disease characterized by abnormal hair, cognitive delay, speech articulation disorder, and increased joint mobility. At birth patients have normal hair that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa.

http://purl.uniprot.org/mim/261990
comment: phenotype
database: MIM

Abruzzo-Erickson syndrome
type: Disease
alternative label: X-linked Charge-like syndrome
mnemonic: ABERS
comment: A disease characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis.

http://purl.uniprot.org/mim/302905
comment: phenotype
database: MIM

Acatalasemia
type: Disease
alternative label: Acatalasia
alternative label: Catalase deficiency
alternative label: Takahara's disease
alternative label: Takahara disease
mnemonic: ACATLAS
comment: A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions. Acatalasemia is inherited as an autosomal recessive trait.

http://purl.uniprot.org/mim/614097
comment: phenotype
database: MIM

ACCES syndrome
type: Disease
alternative label: Aplasia cutis congenita with ectrodactyly skeletal syndrome
mnemonic: ACCES
comment: An autosomal dominant syndrome characterized by a highly variable phenotypic spectrum. Clinical features include aplasia cutis congenita, thin scalp hair, dry skin, dental anomalies, ectrodactyly, and skeletal and neurodevelopmental abnormalities. Craniofacial, cardiac, renal and genital anomalies have also been reported. Affected individuals have early growth deficiencies that improve with age.

http://purl.uniprot.org/mim/619959
comment: phenotype
database: MIM

Aceruloplasminemia
type: Disease
mnemonic: ACERULOP
comment: An autosomal recessive disorder of iron metabolism characterized by iron accumulation in the brain as well as visceral organs. Clinical features consist of the triad of retinal degeneration, diabetes mellitus and neurological disturbances.

http://purl.uniprot.org/mim/604290
comment: phenotype
database: MIM

Acetyl-CoA carboxylase 1 deficiency
type: Disease
alternative label: ACACA deficiency
alternative label: ACAC deficiency
alternative label: ACC1 deficiency
alternative label: ACC deficiency
mnemonic: ACACAD
comment: An inborn error of de novo fatty acid synthesis associated with severe brain damage, persistent myopathy and poor growth.

http://purl.uniprot.org/mim/613933
comment: phenotype
database: MIM

Achalasia-addisonianism-alacrima syndrome
type: Disease
alternative label: ACTH-resistant adrenal insufficiency with achalasia and alacrima
alternative label: Addisonian-achalasia syndrome
alternative label: Alacrima-achalasia-addisonianism
alternative label: Alacrima-achalasia-adrenal insufficiency neurologic disorder
alternative label: Allgrove's syndrome
alternative label: Allgrove syndrome
alternative label: Glucocorticoid deficiency and achalasia
alternative label: Hypoadrenalism with achalasia
alternative label: Triple-A syndrome
mnemonic: AAAS
comment: An autosomal recessive disorder characterized by adreno-corticotropic hormone (ACTH)-resistant adrenal failure, achalasia of the esophageal cardia and alacrima. The syndrome is associated with variable and progressive neurological impairment involving the central, peripheral, and autonomic nervous system. Other features such as palmoplantar hyperkeratosis, short stature, facial dysmorphy and osteoporosis may also be present.

http://purl.uniprot.org/mim/231550
comment: phenotype
database: MIM

Acheiropody
type: Disease
alternative label: Acheiropodia
alternative label: Acheiropody Brazilian type
mnemonic: ACHP
comment: Very rare condition characterized by bilateral congenital amputations of the hands and feet. The specific malformative phenotype consists of a complete amputation of the distal epiphysis of the humerus, amputation of the tibial diaphysis and aplasia of the radius, ulna, fibula and of all the bones of the hands and feet.

http://purl.uniprot.org/mim/200500
comment: phenotype
database: MIM

Achondrogenesis 1A
type: Disease
alternative label: ACG-IA
alternative label: Achondrogenesis Houston-Harris type
alternative label: Achondrogenesis type IA
mnemonic: ACG1A
comment: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.

http://purl.uniprot.org/mim/200600
comment: phenotype
database: MIM

Achondrogenesis 1B
type: Disease
alternative label: ACG-IB
alternative label: Achondrogenesis Fraccaro type
alternative label: Achondrogenesis type IB
alternative label: Fraccaro achondrogenesis
mnemonic: ACG1B
comment: A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease.

http://purl.uniprot.org/mim/600972
comment: phenotype
database: MIM

Achondrogenesis 2
type: Disease
alternative label: ACG-II
alternative label: Achondrogenesis-hypochondrogenesis type II
alternative label: Achondrogenesis Langer-Saldino type
alternative label: Achondrogenesis type II
mnemonic: ACG2
comment: An autosomal dominant disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones.

http://purl.uniprot.org/mim/200610
comment: phenotype
database: MIM

Achondroplasia
type: Disease
mnemonic: ACH
comment: A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.

http://purl.uniprot.org/mim/100800
comment: phenotype
database: MIM

Achondroplasia, severe, with developmental delay and acanthosis nigricans
type: Disease
alternative label: SADDAN dysplasia
mnemonic: SADDAN
comment: A severe form of achondroplasia associated with developmental delay and acanthosis nigricans. Patients manifest short-limb dwarfism, with a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. Acanthosis nigricans is a skin condition characterized by brown-pigmented, velvety verrucosities in body folds and creases.

http://purl.uniprot.org/mim/616482
comment: phenotype
database: MIM

Achromatopsia 2
type: Disease
alternative label: Complete achromatopsia
alternative label: RMCH2
alternative label: Rod monochromacy 2
alternative label: Rod monochromatism 2
alternative label: Total colorblindness
mnemonic: ACHM2
comment: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.

http://purl.uniprot.org/mim/216900
comment: phenotype
database: MIM

Achromatopsia 3
type: Disease
alternative label: Achromatopsia with myopia
alternative label: Pingelapese blindness
alternative label: Total colorblindness with myopia
mnemonic: ACHM3
comment: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.

http://purl.uniprot.org/mim/262300
comment: phenotype
database: MIM

Achromatopsia 4
type: Disease
mnemonic: ACHM4
comment: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.

http://purl.uniprot.org/mim/613856
comment: phenotype
database: MIM

Achromatopsia 5
type: Disease
mnemonic: ACHM5
comment: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. ACHM5 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/613093
comment: phenotype
database: MIM

Achromatopsia 7
type: Disease
mnemonic: ACHM7
comment: A form of achromatopsia, an ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus.

http://purl.uniprot.org/mim/616517
comment: phenotype
database: MIM

Acid-labile subunit deficiency
type: Disease
mnemonic: ACLSD
comment: A disorder characterized by severely reduced serum IGF-I and IGFBP-3 concentrations and mild growth retardation. Pubertal delay in boys and insulin insensitivity are common findings.

http://purl.uniprot.org/mim/615961
comment: phenotype
database: MIM

Acne inversa, familial, 1
type: Disease
alternative label: Acne inversa familial
alternative label: Hidradenitis suppurativa familial
mnemonic: ACNINV1
comment: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.

http://purl.uniprot.org/mim/142690
comment: phenotype
database: MIM

Acne inversa, familial, 2, with or without Dowling-Degos disease
type: Disease
alternative label: Acne inversa familial
alternative label: Hidradenitis suppurativa familial
mnemonic: ACNINV2
comment: An autosomal dominant form of acne inversa, a chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Some ACNINV2 patients also exhibit reticulate hyperpigmentation consistent with Dowling-Degos disease.

http://purl.uniprot.org/mim/613736
comment: phenotype
database: MIM

Acne inversa, familial, 3
type: Disease
alternative label: Acne inversa familial
alternative label: Hidradenitis suppurativa familial
mnemonic: ACNINV3
comment: A chronic relapsing inflammatory disease of the hair follicles characterized by recurrent draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty.

http://purl.uniprot.org/mim/613737
comment: phenotype
database: MIM

Acro-dermato-ungual-lacrimal-tooth syndrome
type: Disease
mnemonic: ADULT syndrome
comment: A form of ectodermal dysplasia. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. ADULT syndrome involves ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia and loss of permanent teeth. ADULT syndrome differs significantly from EEC3 syndrome by the absence of facial clefting. Inheritance is autosomal dominant.

http://purl.uniprot.org/mim/103285
comment: phenotype
database: MIM

Acrocallosal syndrome
type: Disease
alternative label: Hallux duplication postaxial polydactyly and absence of corpus callosum
alternative label: Schinzel acrocallosal syndrome
mnemonic: ACLS
comment: An autosomal recessive syndrome characterized by hypogenesis or agenesis of the corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial abnormalities, severe developmental delay and intellectual disability.

http://purl.uniprot.org/mim/200990
comment: phenotype
database: MIM

Acrocapitofemoral dysplasia
type: Disease
mnemonic: ACFD
comment: An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles.

http://purl.uniprot.org/mim/607778
comment: phenotype
database: MIM

Acrodermatitis enteropathica, zinc-deficiency type
type: Disease
mnemonic: AEZ
comment: A rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinical features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.

http://purl.uniprot.org/mim/201100
comment: phenotype
database: MIM

Acrodysostosis 1, with or without hormone resistance
type: Disease
alternative label: ADOHR
alternative label: Arkless-Graham syndrome
alternative label: Maroteaux-Malamut syndrome
mnemonic: ACRDYS1
comment: A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities.

http://purl.uniprot.org/mim/101800
comment: phenotype
database: MIM

Acrodysostosis 2, with or without hormone resistance
type: Disease
mnemonic: ACRDYS2
comment: A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems.

http://purl.uniprot.org/mim/614613
comment: phenotype
database: MIM

Acrofacial dysostosis 1, Nager type
type: Disease
alternative label: AFD Nager type
alternative label: Mandibulofacial dysostosis Treacher Collins type with limb anomalies
alternative label: Nager acrofacial dysostosis
alternative label: Nager syndrome
mnemonic: AFD1
comment: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.

http://purl.uniprot.org/mim/154400
comment: phenotype
database: MIM

Acrofacial dysostosis, Cincinnati type
type: Disease
mnemonic: AFDCIN
comment: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and, in some patients, the limbs.

http://purl.uniprot.org/mim/616462
comment: phenotype
database: MIM

Acrofacial dysostosis, Weyers type
type: Disease
alternative label: Acrodental dysostosis of Weyers
alternative label: Curry-Hall syndrome
alternative label: Weyers acrofacial dysostosis
mnemonic: WAD
comment: An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.

http://purl.uniprot.org/mim/193530
comment: phenotype
database: MIM

Acrokeratosis verruciformis
type: Disease
alternative label: Hopf disease
mnemonic: AKV
comment: A localized disorder of keratinization, which is inherited as an autosomal dominant trait. Its onset is early in life with multiple flat-topped, flesh-colored papules on the hands and feet, punctate keratoses on the palms and soles, with varying degrees of nail involvement. The histopathology shows a distinctive pattern of epidermal features with hyperkeratosis, hypergranulosis and acanthosis together with papillomatosis. These changes are frequently associated with circumscribed elevations of the epidermis that are said to resemble church spires. There are no features of dyskeratosis or acantholysis, the typical findings in lesions of Darier disease.

http://purl.uniprot.org/mim/101900
comment: phenotype
database: MIM

Acromelic frontonasal dysostosis
type: Disease
mnemonic: AFND
comment: A rare variant form of frontonasal dysplasia, an array of abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is highly variable. Major findings include true ocular hypertelorism, broadening of the nasal root, median facial cleft affecting the nose and/or upper lip and palate, unilateral or bilateral clefting of the alae nasi, lack of formation of the nasal tip, anterior cranium bifidum occultum, a V-shaped or widow's peak frontal hairline. AFND is characterized by the association of frontonasal malformations with various combinations of polydactyly, tibial hypoplasia, epibulbar dermoid, encephalocoele, corpus callosum agenesis and Dandy-Walker malformation.

http://purl.uniprot.org/mim/603671
comment: phenotype
database: MIM

Acromesomelic dysplasia 1
type: Disease
alternative label: Acromesomelic dysplasia, Maroteaux type
alternative label: AMDM
alternative label: St. Helena dysplasia
mnemonic: AMD1
comment: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD1 is an autosomal recessive form characterized by axial skeletal involvement with wedging of vertebral bodies. All skeletal elements are present but show abnormal rates of linear growth.

http://purl.uniprot.org/mim/602875
comment: phenotype
database: MIM

Acromesomelic dysplasia 2A
type: Disease
alternative label: Acromesomelic chondrodysplasia, Grebe type
alternative label: AMDG
mnemonic: AMD2A
comment: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2A is an autosomal recessive form characterized by normal axial skeletons and missing or fused skeletal elements within the hands and feet.

http://purl.uniprot.org/mim/200700
comment: phenotype
database: MIM

Acromesomelic dysplasia 2B
type: Disease
alternative label: DUPANS
alternative label: Du Pan syndrome
alternative label: Fibular hypoplasia and complex brachydactyly
mnemonic: AMD2B
comment: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2B is an autosomal recessive form characterized by acromesomelic limb shortening with severe reduction or absence of the fibula, and severe hand and feet abnormalities including complex brachydactyly.

http://purl.uniprot.org/mim/228900
comment: phenotype
database: MIM

Acromesomelic dysplasia 2C
type: Disease
alternative label: Acromesomelic chondrodysplasia, Hunter-Thompson type
alternative label: AMDH
mnemonic: AMD2C
comment: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD2C is an autosomal recessive form characterized by skeletal abnormalities restricted to the limbs. The craniofacial skeleton and axial skeletal structures are normal.

http://purl.uniprot.org/mim/201250
comment: phenotype
database: MIM

Acromesomelic dysplasia 3
type: Disease
alternative label: Acromesomelic chondrodysplasia, with genital anomalies
alternative label: Acromesomelic dysplasia, Demirhan type
alternative label: AMDD
alternative label: Chondrodysplasia, acromesomelic, with or without genital anomalies
mnemonic: AMD3
comment: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD3 is an autosomal recessive form characterized by bilateral aplasia of the fibula, severe brachydactyly, and fusion of carpal and tarsal bones.

http://purl.uniprot.org/mim/609441
comment: phenotype
database: MIM

Acromesomelic dysplasia 4
type: Disease
mnemonic: AMD4
comment: A form of acromesomelic dysplasia, a skeletal disorder characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMD4 radiographic hallmarks include mild to moderate platyspondyly, moderate brachydactyly, iliac flaring, and metaphyseal alterations of the long bones that progressively increase with age. AMD4 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/619636
comment: phenotype
database: MIM

Acromicric dysplasia
type: Disease
mnemonic: ACMICD
comment: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal.

http://purl.uniprot.org/mim/102370
comment: phenotype
database: MIM

ACTH deficiency, isolated
type: Disease
alternative label: Adrenocorticotropic hormone deficiency
mnemonic: IAD
comment: An autosomal recessive disorder that is characterized by adrenal insufficiency symptoms, such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting and low blood pressure (hypotension). The pituitary hormone ACTH is decreased or absent, and other cortisol and other steroid hormone levels in the blood are abnormally low.

http://purl.uniprot.org/mim/201400
comment: phenotype
database: MIM

ACTH-independent macronodular adrenal hyperplasia 1
type: Disease
alternative label: ACTH-independent Cushing syndrome
alternative label: ACTH-independent macronodular adrenocortical hyperplasia
alternative label: Adrenal Cushing syndrome due to AIMAH
alternative label: Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia
alternative label: Corticotropin-independent macronodular adrenal hyperplasia
mnemonic: AIMAH1
comment: A rare adrenal defect characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.

http://purl.uniprot.org/mim/219080
comment: phenotype
database: MIM

ACTH-independent macronodular adrenal hyperplasia 2
type: Disease
alternative label: Primary macronodular adrenal hyperplasia
mnemonic: AIMAH2
comment: A form of macronodular adrenal hyperplasia characterized by multiple, bilateral, non-pigmented, benign, adrenocortical nodules. It results in excessive production of cortisol leading to ACTH-independent Cushing syndrome. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes.

http://purl.uniprot.org/mim/615954
comment: phenotype
database: MIM

Acute hepatic porphyria
type: Disease
alternative label: ALAD deficiency
alternative label: Delta-aminolevulinate dehydratase deficiency
alternative label: Doss porphyria
alternative label: Porphobilinogen synthase deficiency
alternative label: Porphyria ALAD
mnemonic: AHEPP
comment: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

http://purl.uniprot.org/mim/612740
comment: phenotype
database: MIM

Acute intermittent porphyria
type: Disease
alternative label: PBGD deficiency
alternative label: Porphobilinogen deaminase deficiency
alternative label: Porphyria, Swedish type
alternative label: UPS deficiency
alternative label: Uroporphyrinogen synthase deficiency
mnemonic: AIP
comment: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.

http://purl.uniprot.org/mim/176000
comment: phenotype
database: MIM

Acyl-CoA dehydrogenase medium-chain deficiency
type: Disease
alternative label: ACADM deficiency
alternative label: Carnitine deficiency secondary to medium-chain acyl-Coa dehydrogenase deficiency
alternative label: MCAD deficiency
alternative label: MCADH deficiency
mnemonic: ACADMD
comment: An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy.

http://purl.uniprot.org/mim/201450
comment: phenotype
database: MIM

Acyl-CoA dehydrogenase short-chain deficiency
type: Disease
alternative label: ACADS deficiency
alternative label: Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency
alternative label: SCAD deficiency
alternative label: SCADH deficiency
mnemonic: ACADSD
comment: An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults.

http://purl.uniprot.org/mim/201470
comment: phenotype
database: MIM

Acyl-CoA dehydrogenase very long-chain deficiency
type: Disease
alternative label: ACADL deficiency
alternative label: Acyl-CoA dehydrogenase long-chain deficiency
alternative label: LCAD deficiency
alternative label: VLCAD deficiency
mnemonic: ACADVLD
comment: An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting.

http://purl.uniprot.org/mim/201475
comment: phenotype
database: MIM

Adams-Oliver syndrome 1
type: Disease
alternative label: Absence defect of limbs scalp and skull
alternative label: Aplasia cutis congenita with terminal transverse limb defects
alternative label: Congenital scalp defects with distal limb reduction anomalies
mnemonic: AOS1
comment: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

http://purl.uniprot.org/mim/100300
comment: phenotype
database: MIM

Adams-Oliver syndrome 2
type: Disease
mnemonic: AOS2
comment: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

http://purl.uniprot.org/mim/614219
comment: phenotype
database: MIM

Adams-Oliver syndrome 3
type: Disease
mnemonic: AOS3
comment: An autosomal dominant form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.

http://purl.uniprot.org/mim/614814
comment: phenotype
database: MIM

Adams-Oliver syndrome 4
type: Disease
mnemonic: AOS4
comment: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

http://purl.uniprot.org/mim/615297
comment: phenotype
database: MIM

Adams-Oliver syndrome 5
type: Disease
mnemonic: AOS5
comment: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

http://purl.uniprot.org/mim/616028
comment: phenotype
database: MIM

Adams-Oliver syndrome 6
type: Disease
mnemonic: AOS6
comment: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

http://purl.uniprot.org/mim/616589
comment: phenotype
database: MIM

Adenine phosphoribosyltransferase deficiency
type: Disease
alternative label: 2,8-dihydroxyadenine urolithiasis
alternative label: APRT deficiency
alternative label: Nephrolithiasis DHA
alternative label: Urolithiasis DHA
mnemonic: APRTD
comment: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones.

http://purl.uniprot.org/mim/614723
comment: phenotype
database: MIM

Adenosine monophosphate deaminase deficiency erythrocyte type
type: Disease
alternative label: AMP deaminase deficiency erythrocyte type
alternative label: Erythrocyte AMP deaminase deficiency
mnemonic: AMPDDE
comment: A metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.

http://purl.uniprot.org/mim/612874
comment: phenotype
database: MIM

Adenylosuccinase deficiency
type: Disease
alternative label: Adenylosuccinate lyase deficiency
alternative label: ADSL deficiency
mnemonic: ADSLD
comment: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present.

http://purl.uniprot.org/mim/103050
comment: phenotype
database: MIM

Adermatoglyphia
type: Disease
alternative label: Absence of fingerprints
alternative label: Immigration delay disease
mnemonic: ADERM
comment: An autosomal dominant condition characterized by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints, and is associated with a reduced number of sweat gland openings and reduced sweating of palms and soles.

http://purl.uniprot.org/mim/136000
comment: phenotype
database: MIM

Adie pupil
type: Disease
alternative label: Adie syndrome
alternative label: Holmes-Adie syndrome
alternative label: Tonic pupil
mnemonic: ADIEP
comment: A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J.

http://purl.uniprot.org/mim/103100
comment: phenotype
database: MIM

Adiponectin deficiency
type: Disease
mnemonic: ADPND
comment: A condition that results in very low concentrations of plasma adiponectin.

http://purl.uniprot.org/mim/612556
comment: phenotype
database: MIM

Adrenal hyperplasia 1
type: Disease
alternative label: Congenital lipoid adrenal hyperplasia
alternative label: Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism
alternative label: Lipoid CAH
mnemonic: AH1
comment: The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.

http://purl.uniprot.org/mim/201710
comment: phenotype
database: MIM

Adrenal hyperplasia 2
type: Disease
alternative label: 3-beta-HSD deficiency
alternative label: 3-beta-hydroxysteroid dehydrogenase type II deficiency
alternative label: Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
alternative label: Adrenal hyperplasia type II
alternative label: AH-II
alternative label: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency
mnemonic: AH2
comment: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.

http://purl.uniprot.org/mim/201810
comment: phenotype
database: MIM

Adrenal hyperplasia 3
type: Disease
alternative label: Adrenal hyperplasia type III
alternative label: AH-III
alternative label: CAH1
alternative label: Congenital adrenal hyperplasia 1
alternative label: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
alternative label: Hyperandrogenism nonclassic type due to 21-hydroxylase deficiency
mnemonic: AH3
comment: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).

http://purl.uniprot.org/mim/201910
comment: phenotype
database: MIM

Adrenal hyperplasia 4
type: Disease
alternative label: Adrenal hyperplasia type IV
alternative label: AH-IV
alternative label: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
mnemonic: AH4
comment: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).

http://purl.uniprot.org/mim/202010
comment: phenotype
database: MIM

Adrenal hyperplasia 5
type: Disease
alternative label: Adrenal hyperplasia type V
alternative label: AH-V
alternative label: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
mnemonic: AH5
comment: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic).

http://purl.uniprot.org/mim/202110
comment: phenotype
database: MIM

Adrenal hypoplasia, congenital
type: Disease
alternative label: Adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism
alternative label: AHCH
alternative label: AHC with HHG
alternative label: AHC with isolated gonadotropin deficiency
alternative label: AHX
alternative label: Cytomegalic adrenocortical hypoplasia
alternative label: X-linked Addison disease
alternative label: X-linked adrenal hypoplasia congenital
mnemonic: AHC
comment: A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.

http://purl.uniprot.org/mim/300200
comment: phenotype
database: MIM

Adrenal insufficiency, congenital, with 46,XY sex reversal
type: Disease
alternative label: Adrenal insufficiency congenital with 46,XY sex reversal partial or complete
alternative label: P450scc deficiency
mnemonic: AICSR
comment: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia.

http://purl.uniprot.org/mim/613743
comment: phenotype
database: MIM

Adrenal insufficiency, NR5A1-related
type: Disease
mnemonic: AINR
comment: A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt-wasting crisis, prolonged jaundice, hypoglycemia, and vomiting.

http://purl.uniprot.org/mim/612964
comment: phenotype
database: MIM

Adrenocortical carcinoma
type: Disease
alternative label: Hereditary adrenocortical carcinoma
alternative label: Pediatric adrenocortical carcinoma
mnemonic: ADCC
comment: A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome.

http://purl.uniprot.org/mim/202300
comment: phenotype
database: MIM

Adrenoleukodystrophy
type: Disease
alternative label: Addison disease and cerebral sclerosis
alternative label: Adrenomyeloneuropathy
alternative label: AMN
alternative label: Bronze Schilder disease
alternative label: Melanodermic leukodystrophy
alternative label: Siemerling-Creutzfeldt disease
mnemonic: ALD
comment: A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.

http://purl.uniprot.org/mim/300100
comment: phenotype
database: MIM

Adrenoleukodystrophy, pseudoneonatal
type: Disease
alternative label: Peroxisomal acyl-CoA oxidase deficiency
mnemonic: Pseudo-NALD
comment: A peroxisomal single-enzyme disorder of fatty acid beta-oxidation, resulting in clinical manifestations that remind neonatal adrenoleukodystrophy. Clinical features include intellectual disability, leukodystrophy, seizures, mild hepatomegaly, hearing deficit. Pseudo-NALD is characterized by increased plasma levels of very-long chain fatty acids, due to decreased or absent peroxisome acyl-CoA oxidase activity. Peroxisomes are intact and functioning.

http://purl.uniprot.org/mim/264470
comment: phenotype
database: MIM

Advanced sleep phase syndrome, familial, 1
type: Disease
mnemonic: FASPS1
comment: An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.

http://purl.uniprot.org/mim/604348
comment: phenotype
database: MIM

Advanced sleep phase syndrome, familial, 2
type: Disease
mnemonic: FASPS2
comment: An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.

http://purl.uniprot.org/mim/615224
comment: phenotype
database: MIM

Advanced sleep phase syndrome, familial, 3
type: Disease
mnemonic: FASPS3
comment: An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.

http://purl.uniprot.org/mim/616882
comment: phenotype
database: MIM

Advanced sleep phase syndrome, familial, 4
type: Disease
mnemonic: FASPS4
comment: An autosomal dominant disorder characterized by very early sleep onset and offset. Individuals are 'morning larks' with a 4 hours advance of the sleep, temperature and melatonin rhythms.

http://purl.uniprot.org/mim/620015
comment: phenotype
database: MIM

Agammaglobulinemia 1, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia autosomal recessive due to IGHM defect
mnemonic: AGM1
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/601495
comment: phenotype
database: MIM

Agammaglobulinemia 10, autosomal dominant
type: Disease
alternative label: Agammaglobulinemia, autosomal dominant, due to SPI1 defect
mnemonic: AGM10
comment: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/619707
comment: phenotype
database: MIM

Agammaglobulinemia 2, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia autosomal recessive due to IGLL1 defect
mnemonic: AGM2
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/613500
comment: phenotype
database: MIM

Agammaglobulinemia 3, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia autosomal recessive due to CD79A defect
mnemonic: AGM3
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/613501
comment: phenotype
database: MIM

Agammaglobulinemia 4, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia autosomal recessive due to BLNK defect
mnemonic: AGM4
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/613502
comment: phenotype
database: MIM

Agammaglobulinemia 5, autosomal dominant
type: Disease
alternative label: Agammaglobulinemia autosomal dominant due to LRRC8A defect
mnemonic: AGM5
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/613506
comment: phenotype
database: MIM

Agammaglobulinemia 6, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia autosomal recessive due to CD79B defect
mnemonic: AGM6
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/612692
comment: phenotype
database: MIM

Agammaglobulinemia 7, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia autosomal recessive due to PIK3R1 defect
mnemonic: AGM7
comment: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/615214
comment: phenotype
database: MIM

Agammaglobulinemia 8A, autosomal dominant
type: Disease
alternative label: Agammaglobulinemia, autosomal dominant, due to TCF3 defect
mnemonic: AGM8A
comment: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/616941
comment: phenotype
database: MIM

Agammaglobulinemia 8B, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia, autosomal recessive, due to TCF3 defect
mnemonic: AGM8B
comment: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. AGM8B is characterized by onset of recurrent infections in early childhood. AGM8B patients may show dysmorphic facies and subtle abnormalities of other immune cells, such as T cells.

http://purl.uniprot.org/mim/619824
comment: phenotype
database: MIM

Agammaglobulinemia 9, autosomal recessive
type: Disease
alternative label: Agammaglobulinemia, autosomal recessive, due to SLC39A7 defect
mnemonic: AGM9
comment: A form of agammaglobulinemia, a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

http://purl.uniprot.org/mim/619693
comment: phenotype
database: MIM

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
type: Disease
mnemonic: ACOGS
comment: An autosomal dominant, syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, mirror movements, dysmorphic features, and ocular, cardiac, and genital anomalies.

http://purl.uniprot.org/mim/618929
comment: phenotype
database: MIM

Agenesis of the corpus callosum, with abnormal genitalia
type: Disease
alternative label: ACC with abnormal genitalia
alternative label: Corpus callosum, agenesis of, with abnormal genitalia
alternative label: Micrencephaly-corpus callosum agenesis-abnormal genitalia
alternative label: Proud-Levine-Carpenter syndrome
alternative label: Proud syndrome
mnemonic: ACCAG
comment: An X-linked syndrome with variable expression in females. It is characterized by agenesis of corpus callosum, intellectual disability and seizures. Manifestations in surviving males include severe acquired micrencephaly, intellectual disability, limb contractures, scoliosis, tapered fingers with hyperconvex nails, a characteristic face with large eyes, prominent supraorbital ridges, synophrys, optic atrophy, broad alveolar ridges, and seizures. Urologic anomalies include renal dysplasia, cryptorchidism, and hypospadias.

http://purl.uniprot.org/mim/300004
comment: phenotype
database: MIM

Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia
type: Disease
alternative label: Birk-Flusser syndrome
alternative label: Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia
mnemonic: CCAFCA
comment: An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment.

http://purl.uniprot.org/mim/616819
comment: phenotype
database: MIM

Agenesis of the corpus callosum, with peripheral neuropathy
type: Disease
alternative label: Andermann's syndrome
alternative label: Andermann syndrome
alternative label: Charlevoix disease
alternative label: Corpus callosum, agenesis of, with neuronopathy
alternative label: Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum
mnemonic: ACCPN
comment: A disease that is characterized by severe progressive sensorimotor neuropathy, intellectual disability, dysmorphic features and complete or partial agenesis of the corpus callosum.

http://purl.uniprot.org/mim/218000
comment: phenotype
database: MIM

Agenesis of the corpus callosum, X-linked, partial
type: Disease
mnemonic: ACCPX
comment: A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.

http://purl.uniprot.org/mim/304100
comment: phenotype
database: MIM

Agnathia-otocephaly complex
type: Disease
alternative label: Dysgnathia complex agnathia-holoprosencephaly
alternative label: Holoprosencephaly-agnathia
alternative label: Otocephaly
mnemonic: AGOTC
comment: A rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal.

http://purl.uniprot.org/mim/202650
comment: phenotype
database: MIM

AICA-ribosuria due to ATIC deficiency
type: Disease
alternative label: AICA-ribosiduria due to ATIC deficiency
alternative label: AICAR transformylase/IMP cyclohydrolase deficiency
alternative label: ATIC deficiency
mnemonic: AICAR
comment: A neurologically devastating inborn error of purine biosynthesis. Patients excrete massive amounts of AICA-riboside in the urine and accumulate AICA-ribotide and its derivatives in erythrocytes and fibroblasts. Clinical features include profound intellectual disability, epilepsy, dysmorphic features and congenital blindness. AICAR inheritance is autosomal recessive.

http://purl.uniprot.org/mim/608688
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 1
type: Disease
alternative label: Autosomal dominant Aicardi-Goutieres syndrome
alternative label: Cree encephalitis
alternative label: Encephalopathy familial infantile with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
alternative label: Pseudo-TORCH syndrome
alternative label: Pseudotoxoplasmosis syndrome
mnemonic: AGS1
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/225750
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 2
type: Disease
alternative label: Cree encephalitis
alternative label: Pseudo-TORCH syndrome
mnemonic: AGS2
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/610181
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 3
type: Disease
alternative label: Cree encephalitis
alternative label: Pseudo-TORCH syndrome
mnemonic: AGS3
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/610329
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 4
type: Disease
alternative label: Cree encephalitis
alternative label: Pseudo-TORCH syndrome
mnemonic: AGS4
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/610333
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 5
type: Disease
alternative label: Cree encephalitis
alternative label: Pseudo-TORCH syndrome
mnemonic: AGS5
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/612952
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 6
type: Disease
alternative label: Cree encephalitis
alternative label: Pseudo-TORCH syndrome
mnemonic: AGS6
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/615010
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 7
type: Disease
mnemonic: AGS7
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.

http://purl.uniprot.org/mim/615846
comment: phenotype
database: MIM

Aicardi-Goutieres syndrome 8
type: Disease
mnemonic: AGS8
comment: A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood. AGS8 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/619486
comment: phenotype
database: MIM

Al Kaissi syndrome
type: Disease
alternative label: Growth retardation, spine malformation, dysmorphic facies, and developmental delay
mnemonic: ALKAS
comment: An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delay.

http://purl.uniprot.org/mim/617694
comment: phenotype
database: MIM

Al-Gazali syndrome
type: Disease
mnemonic: ALGAZ
comment: A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance.

http://purl.uniprot.org/mim/609465
comment: phenotype
database: MIM

Al-Gazali-Bakalinova syndrome
type: Disease
alternative label: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
alternative label: MMEDF
mnemonic: AGBK
comment: An autosomal recessive syndrome consisting of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

http://purl.uniprot.org/mim/607131
comment: phenotype
database: MIM

Al-Raqad syndrome
type: Disease
mnemonic: ARS
comment: A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay.

http://purl.uniprot.org/mim/616459
comment: phenotype
database: MIM

Alacrima, achalasia, and impaired intellectual development syndrome
type: Disease
mnemonic: AAMR
comment: An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency.

http://purl.uniprot.org/mim/615510
comment: phenotype
database: MIM

Alagille syndrome 1
type: Disease
alternative label: Alagille syndrome
alternative label: Alagille-Watson syndrome
alternative label: ALGS
alternative label: AWS
alternative label: Cholestasis with peripheral pulmonary stenosis
mnemonic: ALGS1
comment: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.

http://purl.uniprot.org/mim/118450
comment: phenotype
database: MIM

Alagille syndrome 2
type: Disease
alternative label: Alagille-Watson syndrome
alternative label: ALGS
alternative label: AWS
alternative label: Cholestasis with peripheral pulmonary stenosis
mnemonic: ALGS2
comment: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems.

http://purl.uniprot.org/mim/610205
comment: phenotype
database: MIM

Alazami syndrome
type: Disease
alternative label: Facial dysmorphism intellectual disability and primordial dwarfism
mnemonic: ALAZS
comment: A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia.

http://purl.uniprot.org/mim/615071
comment: phenotype
database: MIM

Alazami-Yuan syndrome
type: Disease
mnemonic: ALYUS
comment: An autosomal recessive syndrome reminiscent of Cornelia de Lange syndrome and characterized by delayed psychomotor development with intellectual disability, hypotonia, microcephaly, short stature, poor speech, and dysmorphic features.

http://purl.uniprot.org/mim/617126
comment: phenotype
database: MIM

Albinism ocular 1
type: Disease
alternative label: Nettleship-Falls type ocular albinism
alternative label: OA-1
mnemonic: OA1
comment: Form of albinism affecting only the eye. Pigment of the hair and skin is normal or only slightly diluted. Eyes may be severely affected with photophobia and reduced visual acuity. Nystagmus or strabismus are often associated. The irides and fundus are depigmented.

http://purl.uniprot.org/mim/300500
comment: phenotype
database: MIM

Albinism, oculocutaneous, 1A
type: Disease
alternative label: Albinism I
alternative label: Albinism oculocutaneous IA
alternative label: ATN
alternative label: OCA-1A
alternative label: OCA-IA
alternative label: Oculocutaneous albinism tyrosinase negative
mnemonic: OCA1A
comment: An autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.

http://purl.uniprot.org/mim/203100
comment: phenotype
database: MIM

Albinism, oculocutaneous, 1B
type: Disease
alternative label: Albinism yellow mutant type
alternative label: OCA-IB
alternative label: OCA-ITS
alternative label: Oculocutaneous albinism type IB
alternative label: Oculocutaneous albinism type I temperature-sensitive
alternative label: Yellow albinism
mnemonic: OCA1B
comment: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.

http://purl.uniprot.org/mim/606952
comment: phenotype
database: MIM

Albinism, oculocutaneous, 2
type: Disease
alternative label: Albinism II
alternative label: BOCA
alternative label: Brown oculocutaneous albinism
alternative label: OCA-2
alternative label: Oculocutaneous albinism type II
alternative label: Oculocutaneous albinism tyrosinase-positive
mnemonic: OCA2
comment: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Although affected infants may appear at birth to have complete absence of melanin pigment, most patients acquire small amounts of pigment with age. Visual anomalies include decreased acuity and nystagmus. The phenotype is highly variable. The hair of affected individuals may turn darker with age, and pigmented nevi or freckles may be seen. African and African American individuals may have yellow hair and blue-gray or hazel irides. One phenotypic variant, 'brown OCA,' has been described in African and African American populations and is characterized by light brown hair and skin color and gray to tan irides.

http://purl.uniprot.org/mim/203200
comment: phenotype
database: MIM

Albinism, oculocutaneous, 3
type: Disease
alternative label: Albinism III
alternative label: OCA-III
alternative label: Oculocutaneous albinism type III
alternative label: ROCA
alternative label: Rufous oculocutaneous albinism
alternative label: Xanthism
mnemonic: OCA3
comment: An autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. Tyrosinase activity is normal and patients have only moderate reduction of pigment. The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair.

http://purl.uniprot.org/mim/203290
comment: phenotype
database: MIM

Albinism, oculocutaneous, 4
type: Disease
alternative label: Oculocutaneous albinism type IV
mnemonic: OCA4
comment: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

http://purl.uniprot.org/mim/606574
comment: phenotype
database: MIM

Albinism, oculocutaneous, 6
type: Disease
alternative label: Oculocutaneous albinism type VI
mnemonic: OCA6
comment: A disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.

http://purl.uniprot.org/mim/113750
comment: phenotype
database: MIM

Albinism, oculocutaneous, 7
type: Disease
alternative label: Oculocutaneous albinism type VII
mnemonic: OCA7
comment: A disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation associated with classic albinism ocular abnormalities, including decreased visual acuity, macular hypoplasia, optic dysplasia, atypical choroidal vessels, and nystagmus.

http://purl.uniprot.org/mim/615179
comment: phenotype
database: MIM

Albinism, oculocutaneous, 8
type: Disease
alternative label: Oculocutaneous albinism, type VIII
mnemonic: OCA8
comment: A form of oculocutaneous albinism, a disorder of pigmentation characterized by reduced biosynthesis of melanin in the skin, hair and eyes. OCA8 is an autosomal recessive form characterized by mild hair and skin hypopigmentation, associated with ocular features including nystagmus, reduced visual acuity, iris transillumination, and hypopigmentation of the retina.

http://purl.uniprot.org/mim/619165
comment: phenotype
database: MIM

Albright hereditary osteodystrophy
type: Disease
mnemonic: AHO
comment: A disorder characterized by short stature, obesity, round facies, brachydactyly and subcutaneous calcification. It is often associated with pseudohypoparathyoidism, hypocalcemia and elevated PTH levels.

http://purl.uniprot.org/mim/103580
comment: phenotype
database: MIM

Alexander disease
type: Disease
alternative label: Alexander's disease
mnemonic: ALXDRD
comment: A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.

http://purl.uniprot.org/mim/203450
comment: phenotype
database: MIM

Alkaptonuria
type: Disease
alternative label: Homogentisic acid oxidase deficiency
mnemonic: AKU
comment: An autosomal recessive error of metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations are urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous tissues, and spine arthritis.

http://purl.uniprot.org/mim/203500
comment: phenotype
database: MIM

Alkuraya-Kucinskas syndrome
type: Disease
mnemonic: ALKKUCS
comment: An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features.

http://purl.uniprot.org/mim/617822
comment: phenotype
database: MIM

Allergic rhinitis
type: Disease
mnemonic: ALRH
comment: A common disease with complex inheritance characterized by mucosal inflammation caused by allergen exposure.

http://purl.uniprot.org/mim/607154
comment: phenotype
database: MIM

Alopecia universalis congenita
type: Disease
alternative label: Alopecia universalis
alternative label: Atrichia generalized
mnemonic: ALUNC
comment: A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy.

http://purl.uniprot.org/mim/203655
comment: phenotype
database: MIM

Alopecia, neurologic defects, and endocrinopathy syndrome
type: Disease
alternative label: Alopecia-progressive neurological defect-endocrinopathy
alternative label: ANE syndrome
mnemonic: ANES
comment: Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe intellectual disability, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat.

http://purl.uniprot.org/mim/612079
comment: phenotype
database: MIM

Alopecia-intellectual disability syndrome 1
type: Disease
alternative label: Alopecia with severe intellectual deficit
alternative label: AMR syndrome
alternative label: AMR syndrome 1
mnemonic: APMR1
comment: A rare autosomal recessive form of alopecia. APMR1 patients show loss of hair on the scalp, absence of eyebrows, eyelashes, axillary and pubic hair, and mild to severe intellectual disability.

http://purl.uniprot.org/mim/203650
comment: phenotype
database: MIM

Alopecia-intellectual disability syndrome 4
type: Disease
mnemonic: APMR4
comment: An autosomal recessive disorder characterized by alopecia universalis, scaly skin, mild to severe intellectual disability, delayed or absent speech, and motor delay.

http://purl.uniprot.org/mim/618840
comment: phenotype
database: MIM

Alpha-1-antitrypsin deficiency
type: Disease
mnemonic: A1ATD
comment: A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age.

http://purl.uniprot.org/mim/613490
comment: phenotype
database: MIM

Alpha-2-plasmin inhibitor deficiency
type: Disease
alternative label: Antiplasmin deficiency
alternative label: Plasmin inhibitor deficiency
mnemonic: APLID
comment: An autosomal recessive disorder resulting in severe hemorrhagic diathesis.

http://purl.uniprot.org/mim/262850
comment: phenotype
database: MIM

Alpha-aminoadipic and alpha-ketoadipic aciduria
type: Disease
alternative label: 2-aminoadipic 2-oxoadipic aciduria
alternative label: 2-ketoadipic aciduria
alternative label: AMOXAD
mnemonic: AAKAD
comment: An autosomal recessive metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic.

http://purl.uniprot.org/mim/204750
comment: phenotype
database: MIM

Alpha-fetoprotein deficiency
type: Disease
mnemonic: AFPD
comment: A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development.

http://purl.uniprot.org/mim/615969
comment: phenotype
database: MIM

Alpha-fetoprotein, hereditary persistence
type: Disease
mnemonic: HPAFP
comment: A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life.

http://purl.uniprot.org/mim/615970
comment: phenotype
database: MIM

Alpha-methylacyl-CoA racemase deficiency
type: Disease
alternative label: AMACR deficiency
mnemonic: AMACRD
comment: A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.

http://purl.uniprot.org/mim/614307
comment: phenotype
database: MIM

Alpha-thalassemia
type: Disease
mnemonic: A-THAL
comment: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia).

http://purl.uniprot.org/mim/604131
comment: phenotype
database: MIM

Alpha-thalassemia myelodysplasia syndrome
type: Disease
alternative label: Acquired alpha-thalassemia with myelodysplastic syndrome
alternative label: Hemoglobin H disease acquired
mnemonic: ATMDS
comment: A disorder characterized by hypochromic, microcytic red blood cells, hemoglobin H detected in peripheral blood, and multilineage myelodysplasia.

http://purl.uniprot.org/mim/300448
comment: phenotype
database: MIM

Alpha-thalassemia/impaired intellectual development syndrome, X-linked
type: Disease
alternative label: ATR nondeletion type
alternative label: ATR-X
alternative label: ATR-X syndrome
mnemonic: ATRX
comment: A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions.

http://purl.uniprot.org/mim/301040
comment: phenotype
database: MIM

Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity
type: Disease
mnemonic: T-CMVA
comment: An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia.

http://purl.uniprot.org/mim/609889
comment: phenotype
database: MIM

Alport syndrome 1, X-linked
type: Disease
alternative label: Nephritis-deafness syndrome, X-linked
alternative label: Nephropathy and deafness, X-linked
mnemonic: ATS1
comment: A syndrome that is characterized by progressive glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

http://purl.uniprot.org/mim/301050
comment: phenotype
database: MIM

Alport syndrome 2, autosomal recessive
type: Disease
mnemonic: ATS2
comment: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

http://purl.uniprot.org/mim/203780
comment: phenotype
database: MIM

Alport syndrome 3, autosomal dominant
type: Disease
alternative label: Nephritis-deafness syndrome
alternative label: Nephropathy and deafness
mnemonic: ATS3
comment: A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness.

http://purl.uniprot.org/mim/104200
comment: phenotype
database: MIM

Alstrom syndrome
type: Disease
alternative label: Alstroem syndrome
mnemonic: ALMS
comment: A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.

http://purl.uniprot.org/mim/203800
comment: phenotype
database: MIM

Alternating hemiplegia of childhood 1
type: Disease
mnemonic: AHC1
comment: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.

http://purl.uniprot.org/mim/104290
comment: phenotype
database: MIM

Alternating hemiplegia of childhood 2
type: Disease
mnemonic: AHC2
comment: A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age.

http://purl.uniprot.org/mim/614820
comment: phenotype
database: MIM

Alveolar capillary dysplasia with misalignment of pulmonary veins
type: Disease
alternative label: ACD
alternative label: Alveolar capillary dysplasia
alternative label: Alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies
mnemonic: ACDMPV
comment: A rare developmental disorder characterized by abnormal development of the capillary vascular system in the lungs. Histological features include failure of formation and ingrowth of alveolar capillaries, medial muscular thickening of small pulmonary arterioles with muscularization of the intraacinar arterioles, thickened alveolar walls, and anomalously situated pulmonary veins running alongside pulmonary arterioles and sharing the same adventitial sheath. Less common features include a reduced number of alveoli and a patchy distribution of the histopathologic changes. Affected infants present with respiratory distress and the disease is fatal within the newborn period. Additional features include multiple congenital anomalies affecting the cardiovascular, gastrointestinal, genitourinary, and musculoskeletal systems, as well as disruption of the normal right-left asymmetry of intrathoracic or intraabdominal organs. ACDMPV is a rare cause of persistent pulmonary hypertension of the newborn, an abnormal physiologic state caused by failure of transition of the pulmonary circulation from the high pulmonary vascular resistance of the fetus to the low pulmonary vascular resistance of the newborn.

http://purl.uniprot.org/mim/265380
comment: phenotype
database: MIM

Alzahrani-Kuwahara syndrome
type: Disease
alternative label: Neurodevelopmental disorder with dysmorphic facies and cataracts
mnemonic: ALKUS
comment: An autosomal recessive disorder characterized by severe global developmental delay, impaired intellectual function, poor or absent speech, microcephaly, and facial dysmorphism. Additional variable features include early-onset cataracts, hypotonia, lower limb spasticity, and congenital heart malformations.

http://purl.uniprot.org/mim/619268
comment: phenotype
database: MIM

Alzheimer disease
type: Disease
alternative label: Presenile and senile dementia
mnemonic: AD
comment: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/104300
comment: phenotype
database: MIM

Alzheimer disease 1
type: Disease
alternative label: Autosomal dominant Alzheimer disease
alternative label: Early-onset Alzheimer disease with cerebral amyloid angiopathy
mnemonic: AD1
comment: A form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy.

Alzheimer disease 18
type: Disease
alternative label: Alzheimer disease 18 late-onset
mnemonic: AD18
comment: A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/615590
comment: phenotype
database: MIM

Alzheimer disease 19
type: Disease
alternative label: Late-onset Alzheimer disease
mnemonic: AD19
comment: A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/615711
comment: phenotype
database: MIM

Alzheimer disease 2
type: Disease
alternative label: Alzheimer disease associated with APOE4
alternative label: Late-onset Alzheimer disease
mnemonic: AD2
comment: A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/104310
comment: phenotype
database: MIM

Alzheimer disease 3
type: Disease
alternative label: Early-onset familial Alzheimer disease 3
alternative label: Familial Alzheimer disease 3
alternative label: Familial Alzheimer disease 3 with spastic paraparesis and apraxia
alternative label: Familial Alzheimer disease 3 with spastic paraparesis and unusual plaques
mnemonic: AD3
comment: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/607822
comment: phenotype
database: MIM

Alzheimer disease 4
type: Disease
mnemonic: AD4
comment: A familial early-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/606889
comment: phenotype
database: MIM

Alzheimer disease 9
type: Disease
mnemonic: AD9
comment: A familial, late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/608907
comment: phenotype
database: MIM

Alzheimer disease mitochondrial
type: Disease
mnemonic: AD-MT
comment: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.

http://purl.uniprot.org/mim/502500
comment: phenotype
database: MIM

AMED syndrome, digenic
type: Disease
alternative label: BMFS7
alternative label: Bone marrow failure syndrome 7, digenic
mnemonic: AMEDS
comment: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature.

http://purl.uniprot.org/mim/619151
comment: phenotype
database: MIM

Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome
type: Disease
mnemonic: PAPPAS
comment: An autosomal recessive, lethal embryonic syndrome characterized by absent hindlimbs, pulmonary hypoplasia, severely hypoplastic or absent pelvic bones, hypoplasia of the sacrum, and ambiguous genitalia.

http://purl.uniprot.org/mim/601360
comment: phenotype
database: MIM

Amelogenesis imperfecta 1A
type: Disease
alternative label: Amelogenesis imperfecta, hypoplastic type IA
alternative label: Amelogenesis imperfecta type IA
mnemonic: AI1A
comment: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration.

http://purl.uniprot.org/mim/104530
comment: phenotype
database: MIM

Amelogenesis imperfecta 1B
type: Disease
alternative label: AIH2
alternative label: Amelogenesis imperfecta hypoplastic 2
alternative label: Amelogenesis imperfecta hypoplastic local autosomal dominant
alternative label: Amelogenesis imperfecta type IB
alternative label: Hereditary localized enamel hypoplasia
mnemonic: AI1B
comment: An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).

http://purl.uniprot.org/mim/104500
comment: phenotype
database: MIM

Amelogenesis imperfecta 1C
type: Disease
alternative label: Amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive
alternative label: Amelogenesis imperfecta local hypoplastic type autosomal recessive
alternative label: Amelogenesis imperfecta type IC
mnemonic: AI1C
comment: An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.

http://purl.uniprot.org/mim/204650
comment: phenotype
database: MIM

Amelogenesis imperfecta 1E
type: Disease
alternative label: AIH1
alternative label: Amelogenesis imperfecta, hypoplastic/hypomaturation type 1E
alternative label: Amelogenesis imperfecta hypomaturation type with snow-capped teeth
alternative label: Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
alternative label: Amelogenesis imperfecta type IE
alternative label: Enamel hypoplasia X-linked
alternative label: XAI
alternative label: X-linked amelogenesis imperfecta
mnemonic: AI1E
comment: An X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small.

http://purl.uniprot.org/mim/301200
comment: phenotype
database: MIM

Amelogenesis imperfecta 1F
type: Disease
alternative label: Amelogenesis imperfecta, hypoplastic type IF
alternative label: Amelogenesis imperfecta type IF
mnemonic: AI1F
comment: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1F is characterized by hypoplastic enamel of the primary and secondary dentition.

http://purl.uniprot.org/mim/616270
comment: phenotype
database: MIM

Amelogenesis imperfecta 1G
type: Disease
alternative label: AIGFS
alternative label: Amelogenesis imperfecta and gingival fibromatosis syndrome
alternative label: Enamel-renal-gingival syndrome
alternative label: Enamel-renal syndrome
alternative label: ERS
alternative label: Hypoplastic amelogenesis imperfecta with nephrocalcinosis
mnemonic: AI1G
comment: A disorder characterized by dental anomalies, gingival overgrowth, and nephrocalcinosis. Dental anomalies include hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies and unerupted teeth.

http://purl.uniprot.org/mim/204690
comment: phenotype
database: MIM

Amelogenesis imperfecta 1H
type: Disease
alternative label: Amelogenesis imperfecta, type 1H
mnemonic: AI1H
comment: A disorder characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored.

http://purl.uniprot.org/mim/616221
comment: phenotype
database: MIM

Amelogenesis imperfecta 1J
type: Disease
mnemonic: AI1J
comment: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin.

http://purl.uniprot.org/mim/617297
comment: phenotype
database: MIM

Amelogenesis imperfecta 1K
type: Disease
alternative label: Amelogenesis imperfecta, hypoplastic type IK
mnemonic: AI1K
comment: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1K is an autosomal dominant form characterized by hypoplastic enamel in all teeth.

http://purl.uniprot.org/mim/620104
comment: phenotype
database: MIM

Amelogenesis imperfecta 3A
type: Disease
alternative label: ADHCAI
alternative label: Amelogenesis imperfecta hypocalcification type autosomal dominant
alternative label: Amelogenesis imperfecta hypomineralization type
alternative label: Amelogenesis imperfecta type III
mnemonic: AI3A
comment: An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption.

http://purl.uniprot.org/mim/130900
comment: phenotype
database: MIM

Amelogenesis imperfecta 3B
type: Disease
alternative label: Amelogenesis imperfecta, type IIIB
mnemonic: AI3B
comment: An autosomal dominant form of amelogenesis imperfecta, a defect of enamel formation. AI3B is characterized by hypomineralized enamel that has reduced tickness and exhibits structural defects.

http://purl.uniprot.org/mim/617607
comment: phenotype
database: MIM

Amelogenesis imperfecta 3C
type: Disease
alternative label: Amelogenesis imperfecta, hypocalcification type, autosomal recessive
alternative label: Amelogenesis imperfecta, type IIIC
mnemonic: AI3C
comment: An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides.

http://purl.uniprot.org/mim/618386
comment: phenotype
database: MIM

Amelogenesis imperfecta 4
type: Disease
alternative label: AIHHT
alternative label: AIT
alternative label: Amelogenesis imperfecta 2 hypocalcification type
alternative label: Amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism
alternative label: Amelogenesis imperfecta hypomineralization type
alternative label: Amelogenesis imperfecta type IV
alternative label: Amelogenesis imperfecta with taurodontism
mnemonic: AI4
comment: An autosomal dominant defect of enamel formation associated with enlarged pulp chambers. Enamel is thin, teeth are small and widely spaced.

http://purl.uniprot.org/mim/104510
comment: phenotype
database: MIM

Amelogenesis imperfecta, hypomaturation type, 2A1
type: Disease
alternative label: AIPH
alternative label: Amelogenesis imperfecta 2 hypocalcification type
alternative label: Amelogenesis imperfecta hypomineralization type
alternative label: Amelogenesis imperfecta pigmented hypomaturation type 1
mnemonic: AI2A1
comment: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

http://purl.uniprot.org/mim/204700
comment: phenotype
database: MIM

Amelogenesis imperfecta, hypomaturation type, 2A2
type: Disease
alternative label: Amelogenesis imperfecta 2 hypocalcification type
alternative label: Amelogenesis imperfecta pigmented hypomaturation type 2
mnemonic: AI2A2
comment: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

http://purl.uniprot.org/mim/612529
comment: phenotype
database: MIM

Amelogenesis imperfecta, hypomaturation type, 2A3
type: Disease
alternative label: Amelogenesis imperfecta hypomaturation type IIA3
mnemonic: AI2A3
comment: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

http://purl.uniprot.org/mim/613211
comment: phenotype
database: MIM

Amelogenesis imperfecta, hypomaturation type, 2A4
type: Disease
alternative label: Amelogenesis imperfecta pigmented hypomaturation type IIA4
mnemonic: AI2A4
comment: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

http://purl.uniprot.org/mim/614832
comment: phenotype
database: MIM

Amelogenesis imperfecta, hypomaturation type, 2A5
type: Disease
mnemonic: AI2A5
comment: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

http://purl.uniprot.org/mim/615887
comment: phenotype
database: MIM

Amelogenesis imperfecta, hypomaturation type, 2A6
type: Disease
alternative label: Amelogenesis imperfecta, hypomaturation type, IIA6
mnemonic: AI2A6
comment: A defect of enamel formation. The disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the enamel is softer than normal. Brown pigment is present in middle layers of enamel.

http://purl.uniprot.org/mim/617217
comment: phenotype
database: MIM

Aminoacylase-1 deficiency
type: Disease
alternative label: Encephalopathy associated with aminoacylase 1 deficiency
mnemonic: ACY1D
comment: An enzymatic deficiency resulting in encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids.

http://purl.uniprot.org/mim/609924
comment: phenotype
database: MIM

AMME complex
type: Disease
alternative label: Alport syndrome with intellectual disability, midface hypoplasia and elliptocytosis
mnemonic: ATS-MR
comment: An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis.

http://purl.uniprot.org/mim/300194
comment: phenotype
database: MIM

Amyloidosis 5
type: Disease
alternative label: AGel
alternative label: Amyloid cranial neuropathy with lattice corneal dystrophy
alternative label: Amyloidosis due to mutant gelsolin
alternative label: Amyloidosis V
alternative label: Familial amyloidosis Finnish type
alternative label: Familial amyloid polyneuropathy type IV
alternative label: Finnish type amyloidosis
alternative label: Gelsolin amyloidosis
alternative label: Lattice corneal dystrophy type II
alternative label: Meretoja type amyloidosis
mnemonic: AMYL5
comment: A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.

http://purl.uniprot.org/mim/105120
comment: phenotype
database: MIM

Amyloidosis 6
type: Disease
alternative label: ACys
alternative label: CAA
alternative label: Cerebral amyloid angiopathy
alternative label: Cerebral amyloid angiopathy CST3-related
alternative label: Cerebroarterial amyloidosis Icelandic type
alternative label: Cystatin C amyloidosis
alternative label: HCCAA
alternative label: HCHWA
alternative label: HCHWAI
alternative label: HCHWA-I
alternative label: Hereditary cerebral hemorrhage with amyloidosis
alternative label: Hereditary cerebral hemorrhage with amyloidosis Icelandic type
alternative label: Hereditary cystatin C amyloid angiopathy
mnemonic: AMYL6
comment: A hereditary generalized amyloidosis due to cystatin C amyloid deposition. Cystatin C amyloid accumulates in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in cerebral amyloid angiopathy, cerebral hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.

http://purl.uniprot.org/mim/105150
comment: phenotype
database: MIM

Amyloidosis 8
type: Disease
alternative label: Amyloidosis VIII
alternative label: Familial amyloid nephropathy
alternative label: Familial renal amyloidosis
alternative label: Familial visceral amyloidosis
alternative label: German type amyloidosis
alternative label: Ostertag type amyloidosis
alternative label: Systemic non-neuropathic amyloidosis
mnemonic: AMYL8
comment: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.

http://purl.uniprot.org/mim/105200
comment: phenotype
database: MIM

Amyloidosis, primary localized cutaneous, 1
type: Disease
alternative label: Amyloidosis IX
alternative label: Amyloidosis type 9
alternative label: Familial lichen amyloidosis
alternative label: PCA
alternative label: PLCA
alternative label: Primary cutaneous amyloidosis
alternative label: Primary localized cutaneous amyloidosis
mnemonic: PLCA1
comment: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.

http://purl.uniprot.org/mim/105250
comment: phenotype
database: MIM

Amyloidosis, primary localized cutaneous, 2
type: Disease
mnemonic: PLCA2
comment: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.

http://purl.uniprot.org/mim/613955
comment: phenotype
database: MIM

Amyloidosis, primary localized cutaneous, 3
type: Disease
alternative label: ACD
alternative label: Amyloidosis cutis dyschromica
mnemonic: PLCA3
comment: A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. PLCA3 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/617920
comment: phenotype
database: MIM

Amyloidosis, transthyretin-related
type: Disease
alternative label: Amyloidosis I
alternative label: Amyloidosis Ohio type
alternative label: Amyloidosis type 7
alternative label: Amyloidosis VII
alternative label: Amyloid polyneuropathy
alternative label: ATTR
alternative label: Familial amyloid polyneuropathy
alternative label: Familial amyloid polyneuropathy type I
alternative label: Familial amyloid polyneuropathy type II
alternative label: FAP
alternative label: Hereditary amyloidosis transthyretin-related
alternative label: Leptomeningeal amyloidosis
alternative label: Meningocerebrovascular amyloidosis
alternative label: Oculoleptomeningeal amyloidosis
alternative label: Transthyretin amyloid neuropathy
alternative label: Transthyretin amyloidosis
alternative label: Transthyretin amyloid polyneuropathy
alternative label: TTR amyloid neuropathy
mnemonic: AMYL-TTR
comment: A hereditary generalized amyloidosis due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.

http://purl.uniprot.org/mim/105210
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis
type: Disease
alternative label: Charcot disease
alternative label: Lou Gehrig disease
alternative label: MND
alternative label: Motor neuron disease
mnemonic: ALS
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/105400
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 1
type: Disease
alternative label: FALS
alternative label: Familial amyotrophic lateral sclerosis
alternative label: Lou Gehrig disease
mnemonic: ALS1
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

Amyotrophic lateral sclerosis 10
type: Disease
alternative label: Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia and with TDP43 inclusions
mnemonic: ALS10
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/612069
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 11
type: Disease
mnemonic: ALS11
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/612577
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia
type: Disease
mnemonic: ALS12
comment: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia.

http://purl.uniprot.org/mim/613435
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 13
type: Disease
mnemonic: ALS13
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/183090
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
type: Disease
mnemonic: ALS15
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS15 may develop frontotemporal dementia.

http://purl.uniprot.org/mim/300857
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 16, juvenile
type: Disease
mnemonic: ALS16
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/614373
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 18
type: Disease
mnemonic: ALS18
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/614808
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 19
type: Disease
mnemonic: ALS19
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/615515
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 2
type: Disease
alternative label: ALSJ
alternative label: Amyotrophic lateral sclerosis juvenile
alternative label: Amyotrophic lateral sclerosis juvenile 2
mnemonic: ALS2
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/205100
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 20
type: Disease
mnemonic: ALS20
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/615426
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 21
type: Disease
alternative label: Distal myopathy 2
alternative label: Distal myopathy with vocal cord weakness
alternative label: MPD2
alternative label: MSP5
alternative label: Multisystem proteinopathy 5
alternative label: VCPDM
alternative label: Vocal cord and pharyngeal dysfunction with distal myopathy
mnemonic: ALS21
comment: A neurodegenerative disorder affecting upper and lower motor neurons, resulting in muscle weakness and respiratory failure. Some patients may develop myopathic features or dementia.

http://purl.uniprot.org/mim/606070
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 22, with or without frontotemporal dementia
type: Disease
mnemonic: ALS22
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS22 may develop frontotemporal dementia.

http://purl.uniprot.org/mim/616208
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 23
type: Disease
mnemonic: ALS23
comment: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS23 is an autosomal dominant form with incomplete penetrance.

http://purl.uniprot.org/mim/617839
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 24
type: Disease
mnemonic: ALS24
comment: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/617892
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 25
type: Disease
mnemonic: ALS25
comment: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance.

http://purl.uniprot.org/mim/617921
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia
type: Disease
mnemonic: ALS26
comment: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS26 inheritance is autosomal dominant. Some patients may develop frontotemporal dementia.

http://purl.uniprot.org/mim/619133
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 4
type: Disease
alternative label: Amyotrophic lateral sclerosis juvenile 4
alternative label: Neuronopathy distal hereditary motor with pyramidal features
mnemonic: ALS4
comment: A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/602433
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 5, juvenile
type: Disease
mnemonic: ALS5
comment: A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS5 is an autosomal recessive, juvenile form characterized by onset of upper and lower motor neuron signs before age 25.

http://purl.uniprot.org/mim/602099
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
type: Disease
mnemonic: ALS6
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/608030
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 8
type: Disease
mnemonic: ALS8
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/608627
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis 9
type: Disease
mnemonic: ALS9
comment: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

http://purl.uniprot.org/mim/611895
comment: phenotype
database: MIM

Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
type: Disease
alternative label: ALS/PDC of Guam
alternative label: Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam
alternative label: Guam disease
mnemonic: ALS-PDC1
comment: A neurodegenerative disorder characterized by chronic, progressive and uniformly fatal amyotrophic lateral sclerosis and parkinsonism-dementia. Both diseases are known to occur in the same kindred, the same sibship and even the same individual.

http://purl.uniprot.org/mim/105500
comment: phenotype
database: MIM

Analbuminemia
type: Disease
mnemonic: ANALBA
comment: A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. Affected individuals manifest mild edema, hypotension, fatigue, and, occasionally, lower body lipodystrophy (mainly in adult females). The most common biochemical finding is hyperlipidemia, with a significant increase in the total and LDL cholesterol concentrations, but normal concentrations of HDL cholesterol and triglycerides.

http://purl.uniprot.org/mim/616000
comment: phenotype
database: MIM

Anauxetic dysplasia 2
type: Disease
mnemonic: ANXD2
comment: An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.

http://purl.uniprot.org/mim/617396
comment: phenotype
database: MIM

Anauxetic dysplasia 3
type: Disease
mnemonic: ANXD3
comment: An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays.

http://purl.uniprot.org/mim/618853
comment: phenotype
database: MIM

Androgen insensitivity syndrome
type: Disease
alternative label: Androgen receptor deficiency
alternative label: Androgen resistance syndrome
alternative label: AR deficiency
alternative label: CAIS
alternative label: Complete androgen insensitivity syndrome
alternative label: DHTR deficiency
alternative label: Dihydrotestosterone receptor deficiency
alternative label: Testicular feminization syndrome
alternative label: TFM
mnemonic: AIS
comment: An X-linked recessive form of pseudohermaphroditism due end-organ resistance to androgen. Affected males have female external genitalia, female breast development, blind vagina, absent uterus and female adnexa, and abdominal or inguinal testes, despite a normal 46,XY karyotype.

http://purl.uniprot.org/mim/300068
comment: phenotype
database: MIM

Androgen insensitivity, partial
type: Disease
alternative label: Androgen insensitivity partial with or without breast cancer
alternative label: Familial incomplete male pseudohermaphroditism, type 1
alternative label: Reifenstein syndrome
mnemonic: PAIS
comment: A disorder that is characterized by hypospadias, hypogonadism, gynecomastia, genital ambiguity, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance. Some patients present azoospermia or severe oligospermia without other clinical manifestations.

http://purl.uniprot.org/mim/312300
comment: phenotype
database: MIM

Anemia without thrombocytopenia, X-linked
type: Disease
alternative label: Anemia X-linked with variable neutropenia
mnemonic: XLAWT
comment: A form of anemia characterized by abnormal morphology of erythrocytes and granulocytes in peripheral blood, bone marrow dysplasia with hypocellularity of erythroid and granulocytic lineages, and normal or increased number of megakaryocytes. Neutropenia of a variable degree is present in affected individuals.

http://purl.uniprot.org/mim/300835
comment: phenotype
database: MIM

Anemia, congenital dyserythropoietic, 1A
type: Disease
alternative label: CDA I
alternative label: CDA Ia
alternative label: Congenital dyserythropoietic anemia type I
alternative label: Congenital dyserythropoietic anemia type Ia
mnemonic: CDAN1A
comment: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.

http://purl.uniprot.org/mim/224120
comment: phenotype
database: MIM

Anemia, congenital dyserythropoietic, 1B
type: Disease
alternative label: CDA Ib
alternative label: Congenital dyserythropoietic anemia type Ib
mnemonic: CDAN1B
comment: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.

http://purl.uniprot.org/mim/615631
comment: phenotype
database: MIM

Anemia, congenital dyserythropoietic, 2
type: Disease
alternative label: CDA II
alternative label: Congenital dyserythropoietic anemia type II
alternative label: Dyserythropoietic anemia HEMPAS type
alternative label: HEMPAS
alternative label: Hereditary erythroblastic multinuclearity with positive acidified-serum test
mnemonic: CDAN2
comment: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins.

http://purl.uniprot.org/mim/224100
comment: phenotype
database: MIM

Anemia, congenital dyserythropoietic, 3A
type: Disease
alternative label: Anemia, congenital dyserythropoietic, type III
alternative label: Anemia, congenital dyserythropoietic, type IIIA
alternative label: Anemia with multinucleated erythroblasts erythroreticulosis, hereditary benign
alternative label: CDA, type IIIA
alternative label: CDAN3
alternative label: Dyserythropoietic anemia, congenital, type IIIA
mnemonic: CDAN3A
comment: An autosomal dominant blood disorder characterized by ineffective erythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow.

http://purl.uniprot.org/mim/105600
comment: phenotype
database: MIM

Anemia, congenital dyserythropoietic, 3B, autosomal recessive
type: Disease
mnemonic: CDAN3B
comment: An autosomal recessive blood disorder characterized by marked dyserythropoiesis, hemolytic anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts in the bone marrow.

http://purl.uniprot.org/mim/619789
comment: phenotype
database: MIM

Anemia, congenital dyserythropoietic, 4
type: Disease
alternative label: CDA IV
alternative label: Congenital dyserythropoietic anemia type IV
mnemonic: CDAN4
comment: A blood disorder characterized by ineffective erythropoiesis and hemolysis resulting in anemia. Circulating erythroblasts and erythroblasts in the bone marrow show various morphologic abnormalities. Affected individuals with CDA4 also have increased levels of fetal hemoglobin.

http://purl.uniprot.org/mim/613673
comment: phenotype
database: MIM

Anemia, hypochromic microcytic, with iron overload 1
type: Disease
alternative label: Hypochromic microcytic anemia
mnemonic: AHMIO1
comment: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size. The disorder is due to an error of iron metabolism that results in high serum iron, massive hepatic iron deposition, and absence of sideroblasts and stainable bone marrow iron store. Despite adequate transferrin-iron complex, delivery of iron to the erythroid bone marrow is apparently insufficient for the demands of hemoglobin synthesis.

http://purl.uniprot.org/mim/206100
comment: phenotype
database: MIM

Anemia, hypochromic microcytic, with iron overload 2
type: Disease
mnemonic: AHMIO2
comment: A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly.

http://purl.uniprot.org/mim/615234
comment: phenotype
database: MIM

Anemia, non-spherocytic hemolytic, due to G6PD deficiency
type: Disease
mnemonic: NSHA
comment: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life.

http://purl.uniprot.org/mim/300908
comment: phenotype
database: MIM

Anemia, sideroblastic, 1
type: Disease
alternative label: Anemia, sideroblastic, X-linked
alternative label: ANH1
alternative label: Hereditary iron-loading anemia
alternative label: Hereditary sideroblastic anemia
alternative label: Hypochromic anemia
alternative label: XLSA
mnemonic: SIDBA1
comment: A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.

http://purl.uniprot.org/mim/300751
comment: phenotype
database: MIM

Anemia, sideroblastic, 2, pyridoxine-refractory
type: Disease
alternative label: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
mnemonic: SIDBA2
comment: A form of sideroblastic anemia not responsive to pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.

http://purl.uniprot.org/mim/205950
comment: phenotype
database: MIM

Anemia, sideroblastic, 3, pyridoxine-refractory
type: Disease
mnemonic: SIDBA3
comment: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA3 is refractory to treatment with vitamin B6, while iron chelation therapy may result in clinical improvement. SIDBA3 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/616860
comment: phenotype
database: MIM

Anemia, sideroblastic, 4
type: Disease
mnemonic: SIDBA4
comment: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families.

http://purl.uniprot.org/mim/182170
comment: phenotype
database: MIM

Anemia, sideroblastic, 5
type: Disease
mnemonic: SIDBA5
comment: A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA5 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/619523
comment: phenotype
database: MIM

Anemia, sideroblastic, spinocerebellar ataxia
type: Disease
alternative label: Pagon Bird Detter syndrome
mnemonic: ASAT
comment: An X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis.

http://purl.uniprot.org/mim/301310
comment: phenotype
database: MIM

Anencephaly 1
type: Disease
alternative label: Anencephalus
alternative label: ANPH
mnemonic: ANPH1
comment: An extreme form of neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH1 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/206500
comment: phenotype
database: MIM

Anencephaly 2
type: Disease
mnemonic: ANPH2
comment: A form of anencephaly, an extreme neural tube defect resulting in the absence of brain tissues, and death in utero or perinatally. Infants are born with intact spinal cords, cerebellums, and brainstems, but lack formation of neural structures above this level. The skull is only partially formed. ANPH2 features may also include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. ANPH2 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/619452
comment: phenotype
database: MIM

Aneurysm, intracranial berry, 12
type: Disease
mnemonic: ANIB12
comment: A form of cerebral aneurysm, a focal abnormal dilatation of a blood vessel in the brain. Berry intracranial aneurysms, also known as saccular aneurysms, have a characteristic rounded shape and account for the vast majority of intracranial aneurysms. They are the most common cause of non-traumatic subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension, and excessive alcohol intake are associated with subarachnoid hemorrhage.

http://purl.uniprot.org/mim/618734
comment: phenotype
database: MIM

Angelman syndrome
type: Disease
alternative label: Happy puppet syndrome
mnemonic: AS
comment: A neurodevelopmental disorder characterized by severe motor and intellectual retardation, ataxia, frequent jerky limb movements and flapping of the arms and hands, hypotonia, seizures, absence of speech, frequent smiling and episodes of paroxysmal laughter, open-mouthed expression revealing the tongue.

http://purl.uniprot.org/mim/105830
comment: phenotype
database: MIM

Angioedema induced by ACE inhibitors
type: Disease
alternative label: AE-ACEI
mnemonic: AEACEI
comment: A potentially life-threatening side effect of ACE inhibitors that appears in a subset of patients taking these drugs for hypertension and cardiovascular disease treatment. AEACEI is characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe.

http://purl.uniprot.org/mim/300909
comment: phenotype
database: MIM

Angioedema, hereditary, 1
type: Disease
alternative label: C1 esterase inhibitor deficiency
alternative label: HANE
alternative label: Hereditary angioneurotic edema
mnemonic: HAE1
comment: An autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema due to C1 esterase inhibitor deficiency is comprised of two clinically indistinguishable forms. In hereditary angioedema type 1, serum levels of C1 esterase inhibitor are decreased, while in type 2, the levels are normal or elevated, but the protein is non-functional.

http://purl.uniprot.org/mim/106100
comment: phenotype
database: MIM

Angioedema, hereditary, 3
type: Disease
alternative label: Angioedema, hereditary, type III
alternative label: Angioneurotic edema hereditary with normal C1 inhibitor concentration and function
alternative label: Estrogen-related HAE
alternative label: Estrogen-sensitive HAE
alternative label: HAE with normal C1 inhibitor concentration and function
alternative label: Hereditary angioedema with normal C1 inhibitor activity
mnemonic: HAE3
comment: A hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives).

http://purl.uniprot.org/mim/610618
comment: phenotype
database: MIM

Angioedema, hereditary, 4
type: Disease
mnemonic: HAE4
comment: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE4 is an autosomal dominant form with incomplete penetrance, variable expressivity, and female predominance.

http://purl.uniprot.org/mim/619360
comment: phenotype
database: MIM

Angioedema, hereditary, 5
type: Disease
mnemonic: HAE5
comment: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE5 is an autosomal dominant form characterized by onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life.

http://purl.uniprot.org/mim/619361
comment: phenotype
database: MIM

Angioedema, hereditary, 6
type: Disease
mnemonic: HAE6
comment: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE6 is an autosomal dominant form with onset in adulthood.

http://purl.uniprot.org/mim/619363
comment: phenotype
database: MIM

Angioedema, hereditary, 7
type: Disease
mnemonic: HAE7
comment: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade.

http://purl.uniprot.org/mim/619366
comment: phenotype
database: MIM

Angioedema, hereditary, 8
type: Disease
mnemonic: HAE8
comment: A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE8 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/619367
comment: phenotype
database: MIM

Angiomatoid fibrous histiocytoma
type: Disease
mnemonic: AFH
comment: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis.

http://purl.uniprot.org/mim/612160
comment: phenotype
database: MIM

Anhaptoglobinemia
type: Disease
alternative label: Ahaptoglobinemia
alternative label: Hypohaptoglobinemia
mnemonic: AHP
comment: A condition characterized by the absence of the serum glycoprotein haptoglobin. Serum levels of haptoglobin vary among normal persons: levels are low in the neonatal period and in the elderly, differ by population, and can be influenced by environmental factors, such as infection. Secondary hypohaptoglobinemia can occur as a consequence of hemolysis, during which haptoglobin binds to free hemoglobin. Congenital haptoglobin deficiency is a risk factor for anaphylactic non-hemolytic transfusion reactions.

http://purl.uniprot.org/mim/614081
comment: phenotype
database: MIM

Anhidrosis, isolated, with normal sweat glands
type: Disease
alternative label: Anhidrosis, familial generalized, with normal sweat glands
alternative label: Dann-Epstein-Sohar syndrome
mnemonic: ANHD
comment: An autosomal recessive disorder characterized by generalized, isolated anhidrosis, severe heat intolerance, and morphologically normal eccrine sweat glands. Body growth, teeth, hair, nails, and skin are normal.

http://purl.uniprot.org/mim/106190
comment: phenotype
database: MIM

Aniridia 1
type: Disease
alternative label: AN
alternative label: AN2
alternative label: Aniridia type II
mnemonic: AN1
comment: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

http://purl.uniprot.org/mim/106210
comment: phenotype
database: MIM

Aniridia 2
type: Disease
mnemonic: AN2
comment: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

http://purl.uniprot.org/mim/617141
comment: phenotype
database: MIM

Aniridia 3
type: Disease
mnemonic: AN3
comment: A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

http://purl.uniprot.org/mim/617142
comment: phenotype
database: MIM

Ankyloblepharon-ectodermal defects-cleft lip/palate
type: Disease
alternative label: AEC syndrome
alternative label: Ankyloblepharon-ectodermal defect-cleft lip/palate
alternative label: Hay-Wells syndrome
mnemonic: AEC
comment: An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate.

http://purl.uniprot.org/mim/106260
comment: phenotype
database: MIM

Anorexia nervosa
type: Disease
mnemonic: ANON
comment: An eating disorder characterized by the lack or loss of appetite, excess fear of becoming overweight, body image disturbance, significant weight loss, refusal to maintain minimal normal weight, and amenorrhea.

http://purl.uniprot.org/mim/606788
comment: phenotype
database: MIM

Anterior segment anomalies with or without cataract
type: Disease
mnemonic: ASA
comment: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract.

http://purl.uniprot.org/mim/602588
comment: phenotype
database: MIM

Anterior segment dysgenesis 1
type: Disease
alternative label: Anterior segment mesenchymal dysgenesis
alternative label: Anterior segment ocular dysgenesis
alternative label: ASMD
alternative label: ASOD
alternative label: Familial ocular anterior segment mesenchymal dysgenesis
mnemonic: ASGD1
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.

http://purl.uniprot.org/mim/107250
comment: phenotype
database: MIM

Anterior segment dysgenesis 2
type: Disease
alternative label: Aphakia, congenital primary
alternative label: Congenital primary aphakia
alternative label: CPA
alternative label: CPAK
mnemonic: ASGD2
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/610256
comment: phenotype
database: MIM

Anterior segment dysgenesis 3
type: Disease
alternative label: Glaucoma iridogoniodysplasia, familial
alternative label: IGDA
alternative label: Irid1
alternative label: Iridogoniodysgenesis, type 1
alternative label: Iridogoniodysgenesis anomaly
alternative label: Iridogoniodysgenesis anomaly, autosomal dominant
alternative label: Iris hypoplasia with glaucoma
mnemonic: ASGD3
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/601631
comment: phenotype
database: MIM

Anterior segment dysgenesis 4
type: Disease
alternative label: IGDS2
alternative label: IHGA
alternative label: IRID2
alternative label: Iridogoniodysgenesis syndrome 2
alternative label: Iridogoniodysgenesis type 2
alternative label: Iris hypoplasia with early-onset glaucoma, autosomal dominant
mnemonic: ASGD4
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD4 is an autosomal dominant disease.

http://purl.uniprot.org/mim/137600
comment: phenotype
database: MIM

Anterior segment dysgenesis 5
type: Disease
mnemonic: ASGD5
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.

http://purl.uniprot.org/mim/604229
comment: phenotype
database: MIM

Anterior segment dysgenesis 6
type: Disease
mnemonic: ASGD6
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood.

http://purl.uniprot.org/mim/617315
comment: phenotype
database: MIM

Anterior segment dysgenesis 7
type: Disease
alternative label: COPOA
alternative label: Corneal opacification with other ocular anomalies
alternative label: Sclerocornea with other ocular anomalies
mnemonic: ASGD7
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD7 is an autosomal recessive disease.

http://purl.uniprot.org/mim/269400
comment: phenotype
database: MIM

Anterior segment dysgenesis 8
type: Disease
mnemonic: ASGD8
comment: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra-ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance.

http://purl.uniprot.org/mim/617319
comment: phenotype
database: MIM

Antithrombin III deficiency
type: Disease
alternative label: Antithrombin 3 deficiency
alternative label: Antithrombin deficiency
alternative label: Antithrombin-III deficiency
alternative label: AT-III deficiency
alternative label: THPH7
alternative label: Thrombophilia due to antithrombin-III deficiency
mnemonic: AT3D
comment: An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.

http://purl.uniprot.org/mim/613118
comment: phenotype
database: MIM

Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis
type: Disease
alternative label: Antley-Bixler syndrome-like phenotype with disordered steroidogenesis
alternative label: Cytochrome P450 oxidoreductase deficiency
alternative label: POR deficiency
mnemonic: ABS1
comment: A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.

http://purl.uniprot.org/mim/201750
comment: phenotype
database: MIM

Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis
type: Disease
alternative label: Multisynostotic osteodysgenesis with long bone fractures
alternative label: Osteodysgenesis multisynostotic with fractures
alternative label: Trapezoidocephaly-synostosis syndrome
mnemonic: ABS2
comment: A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported.

http://purl.uniprot.org/mim/207410
comment: phenotype
database: MIM

Aortic aneurysm, familial abdominal
type: Disease
mnemonic: AAA
comment: A common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells.

http://purl.uniprot.org/mim/100070
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 10
type: Disease
alternative label: Aortic aneurysm, thoracic, with or without aortic dissection
mnemonic: AAT10
comment: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/617168
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 11
type: Disease
mnemonic: AAT11
comment: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/617349
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 12
type: Disease
mnemonic: AAT12
comment: A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT12 is an autosomal dominant disease manifesting with aortic dissection and progressive dilation of the aortic root, ascending aorta, and abdominal aorta.

http://purl.uniprot.org/mim/619825
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 4
type: Disease
alternative label: Aortic aneurysm/aortic dissection and patent ductus arteriosus
alternative label: FAA4
alternative label: Familial aortic aneurysm 4
alternative label: Non-syndromic thoracic aortic aneurysms and dissection
alternative label: TAAD
alternative label: Thoracic aortic aneurysms and dissection
mnemonic: AAT4
comment: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/132900
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 6
type: Disease
alternative label: Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi
mnemonic: AAT6
comment: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/611788
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 7
type: Disease
alternative label: Aortic dissection familial with or without aortic aneurysm
mnemonic: AAT7
comment: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/613780
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 8
type: Disease
mnemonic: AAT8
comment: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/615436
comment: phenotype
database: MIM

Aortic aneurysm, familial thoracic 9
type: Disease
alternative label: Aortic aneurysm, thoracic, with or without aortic dissection
mnemonic: AAT9
comment: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance.

http://purl.uniprot.org/mim/616166
comment: phenotype
database: MIM

Aortic valve disease 1
type: Disease
alternative label: Aortic valve disease
alternative label: BAV
alternative label: Bicuspid aortic valve
alternative label: Calcific aortic stenosis
alternative label: Calcification of aortic valve
mnemonic: AOVD1
comment: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

http://purl.uniprot.org/mim/109730
comment: phenotype
database: MIM

Aortic valve disease 2
type: Disease
alternative label: Aortic valve stenosis
alternative label: Bicuspid aortic valve
mnemonic: AOVD2
comment: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome.

http://purl.uniprot.org/mim/614823
comment: phenotype
database: MIM

Aortic valve disease 3
type: Disease
alternative label: Aortic valve stenosis
alternative label: Bicuspid aortic valve
mnemonic: AOVD3
comment: A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance.

http://purl.uniprot.org/mim/618496
comment: phenotype
database: MIM

Apert syndrome
type: Disease
alternative label: Acrocephalosyndactyly type 1
alternative label: ACS1
alternative label: ACS I
mnemonic: APRS
comment: A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.

http://purl.uniprot.org/mim/101200
comment: phenotype
database: MIM

Aplasia cutis congenita, non-syndromic
type: Disease
alternative label: Congenital defect of skull and scalp
alternative label: Congenital scalp defect
mnemonic: ACC
comment: A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body.

http://purl.uniprot.org/mim/107600
comment: phenotype
database: MIM

Aplasia of lacrimal and salivary glands
type: Disease
alternative label: Absence of salivary glands
alternative label: Parotid aplasia or hypoplasia
mnemonic: ALSG
comment: A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta.

http://purl.uniprot.org/mim/180920
comment: phenotype
database: MIM

Aplasia or hypoplasia of the breasts and/or nipples 2
type: Disease
mnemonic: BNAH2
comment: A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia).

http://purl.uniprot.org/mim/616001
comment: phenotype
database: MIM

Aplastic anemia
type: Disease
mnemonic: AA
comment: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.

http://purl.uniprot.org/mim/609135
comment: phenotype
database: MIM

Apparent mineralocorticoid excess
type: Disease
alternative label: AME1
alternative label: Cortisol 11-beta-ketoreductase deficiency
mnemonic: AME
comment: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

http://purl.uniprot.org/mim/218030
comment: phenotype
database: MIM

Arboleda-Tham syndrome
type: Disease
alternative label: KAT6A syndrome
alternative label: MRD32
mnemonic: ARTHS
comment: An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech.

http://purl.uniprot.org/mim/616268
comment: phenotype
database: MIM

Argininemia
type: Disease
alternative label: ARG1 deficiency
alternative label: Arginase-1 deficiency
alternative label: Arginase deficiency
alternative label: Hyperargininemia
mnemonic: ARGIN
comment: A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, intellectual disability, hypotonia, ataxia and progressive spastic quadriplegia.

http://purl.uniprot.org/mim/207800
comment: phenotype
database: MIM

Argininosuccinic aciduria
type: Disease
alternative label: Argininosuccinase deficiency
alternative label: Argininosuccinic acid lyase deficiency
alternative label: ASAuria
alternative label: ASL deficiency
mnemonic: ARGINSA
comment: An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness.

http://purl.uniprot.org/mim/207900
comment: phenotype
database: MIM

Aromatase deficiency
type: Disease
alternative label: Pseudohermaphroditism female due to placental aromatase deficiency
mnemonic: AROD
comment: A rare disease in which fetal androgens are not converted into estrogens due to placental aromatase deficiency. Thus, pregnant women exhibit a hirsutism, which spontaneously resolves after post-partum. At birth, female babies present with pseudohermaphroditism due to virilization of extern genital organs. In adult females, manifestations include delay of puberty, breast hypoplasia and primary amenorrhoea with multicystic ovaries.

http://purl.uniprot.org/mim/613546
comment: phenotype
database: MIM

Aromatase excess syndrome
type: Disease
alternative label: Familial gynecomastia
alternative label: Familial gynecomastia due to increased aromatase activity
alternative label: Hereditary gynecomastia
alternative label: Increased aromatase activity
mnemonic: AEXS
comment: An autosomal dominant disorder characterized by increased extraglandular aromatization of steroids that presents with heterosexual precocity in males and isosexual precocity in females.

http://purl.uniprot.org/mim/139300
comment: phenotype
database: MIM

Aromatic L-amino-acid decarboxylase deficiency
type: Disease
alternative label: Aromatic-L-amino-acid decarboxylase deficiency
alternative label: DDC deficiency
alternative label: DOPA decarboxylase deficiency
mnemonic: AADCD
comment: An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.

http://purl.uniprot.org/mim/608643
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia 11, familial, and mild palmoplantar keratoderma and woolly hair
type: Disease
alternative label: Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
alternative label: ARVD and mild palmoplantar keratoderma with or without woolly hair
mnemonic: ARVD11PK
comment: An autosomal recessive disease characterized by arrhythmogenic cardiomyopathy in association with palmoplantar keratoderma and woolly hair.

http://purl.uniprot.org/mim/610476
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 1
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 1
alternative label: ARVC1
alternative label: Cardiomyopathy right ventricular dilated
alternative label: UHL anomaly
mnemonic: ARVD1
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/107970
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 10
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 10
alternative label: ARVC10
mnemonic: ARVD10
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/610193
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 11
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 11
alternative label: ARVC11
mnemonic: ARVD11
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Arrhythmogenic right ventricular dysplasia, familial, 12
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 12
alternative label: ARVC12
mnemonic: ARVD12
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/611528
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 13
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 13
alternative label: ARVC13
mnemonic: ARVD13
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/615616
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 14
type: Disease
mnemonic: ARVD14
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/618920
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 2
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 2
alternative label: ARVC2
mnemonic: ARVD2
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/600996
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 5
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 5
alternative label: ARVC5
mnemonic: ARVD5
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/604400
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 8
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 8
alternative label: ARVC8
mnemonic: ARVD8
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/607450
comment: phenotype
database: MIM

Arrhythmogenic right ventricular dysplasia, familial, 9
type: Disease
alternative label: Arrhythmogenic right ventricular cardiomyopathy 9
alternative label: ARVC9
mnemonic: ARVD9
comment: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

http://purl.uniprot.org/mim/609040
comment: phenotype
database: MIM

Arterial calcification of infancy, generalized, 1
type: Disease
alternative label: GACI
alternative label: Generalized arterial calcification of infancy
alternative label: Idiopathic infantile arterial calcification
alternative label: IIAC
alternative label: Occlusive infantile arteriopathy
mnemonic: GACI1
comment: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.

http://purl.uniprot.org/mim/208000
comment: phenotype
database: MIM

Arterial calcification of infancy, generalized, 2
type: Disease
mnemonic: GACI2
comment: A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.

http://purl.uniprot.org/mim/614473
comment: phenotype
database: MIM

Arterial tortuosity syndrome
type: Disease
alternative label: Arterial tortuosity
mnemonic: ATORS
comment: An autosomal recessive disorder characterized by tortuosity and elongation of major arteries, often resulting in death at young age. Other typical features include aneurysms of large arteries and stenosis of the pulmonary artery, in association with facial features and several connective tissue manifestations such as soft skin and joint laxity. Histopathological findings include fragmentation of elastic fibers in the tunica media of large arteries.

http://purl.uniprot.org/mim/208050
comment: phenotype
database: MIM

Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
type: Disease
alternative label: AMCNMY
alternative label: Arthrogryposis multiplex congenita, neurogenic, with myelin defect
mnemonic: AMC1
comment: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC1 is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.

http://purl.uniprot.org/mim/617468
comment: phenotype
database: MIM

Arthrogryposis multiplex congenita 2, neurogenic type
type: Disease
alternative label: AMC, neurogenic type
alternative label: AMCN
alternative label: Arthrogryposis multiplex congenita, neurogenic type
mnemonic: AMC2
comment: A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females.

http://purl.uniprot.org/mim/208100
comment: phenotype
database: MIM

Arthrogryposis multiplex congenita 3, myogenic type
type: Disease
alternative label: AMCM
alternative label: Arthrogryposis multiplex congenita, myogenic type
mnemonic: AMC3
comment: A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC3 is an autosomal recessive form characterized by decreased fetal movements, muscular hypotonia, delayed motor development, loss of ambulation, variable skeletal defects, and persistent contractures of interphalangeal joints.

http://purl.uniprot.org/mim/618484
comment: phenotype
database: MIM

Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
type: Disease
alternative label: AMCNACC
alternative label: Arthrogryposis multiplex congenita, neurogenic, with agenesis of the corpus callosum
alternative label: Zain syndrome
mnemonic: AMC4
comment: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood.

http://purl.uniprot.org/mim/618766
comment: phenotype
database: MIM

Arthrogryposis multiplex congenita 5
type: Disease
mnemonic: AMC5
comment: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC5 is an autosomal recessive form characterized by severe congenital contractures, developmental delay, strabismus and tremor.

http://purl.uniprot.org/mim/618947
comment: phenotype
database: MIM

Arthrogryposis multiplex congenita 6
type: Disease
mnemonic: AMC6
comment: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC6 is an autosomal recessive lethal form. Death usually occurs in utero or in infancy.

http://purl.uniprot.org/mim/619334
comment: phenotype
database: MIM

Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
type: Disease
mnemonic: ACCIID
comment: An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures.

http://purl.uniprot.org/mim/618265
comment: phenotype
database: MIM

Arthrogryposis, distal, 11
type: Disease
mnemonic: DA11
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA11 is an autosomal dominant form characterized mainly by camptodactyly. Other features include absent flexion creases and limited forearm supination.

http://purl.uniprot.org/mim/620019
comment: phenotype
database: MIM

Arthrogryposis, distal, 1A
type: Disease
alternative label: AMC
alternative label: AMCD1
alternative label: Arthrogryposis multiplex congenita
alternative label: Arthrogryposis multiplex congenita distal type 1
mnemonic: DA1A
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.

http://purl.uniprot.org/mim/108120
comment: phenotype
database: MIM

Arthrogryposis, distal, 1B
type: Disease
mnemonic: DA1B
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.

http://purl.uniprot.org/mim/614335
comment: phenotype
database: MIM

Arthrogryposis, distal, 1C
type: Disease
alternative label: Arthrogryposis, distal, type 1C
mnemonic: DA1C
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA1C patients show multiple congenital contractures, scoliosis, short stature, and segmental amyoplasia. DA1C inheritance can be autosomal recessive or autosomal dominant.

http://purl.uniprot.org/mim/619110
comment: phenotype
database: MIM

Arthrogryposis, distal, 2A
type: Disease
alternative label: Craniocarpotarsal dysplasia
alternative label: Craniocarpotarsal dystrophy
alternative label: Freeman-Sheldon syndrome
alternative label: FSS
alternative label: Whistling face-windmill vane hand syndrome
mnemonic: DA2A
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin.

http://purl.uniprot.org/mim/193700
comment: phenotype
database: MIM

Arthrogryposis, distal, 2B1
type: Disease
alternative label: AMCD2B
alternative label: Arthrogryposis multiplex congenita distal type 2B
alternative label: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities
alternative label: Freeman-Sheldon syndrome variant
alternative label: FSSV
alternative label: Sheldon-Hall syndrome
alternative label: SHS
mnemonic: DA2B1
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/601680
comment: phenotype
database: MIM

Arthrogryposis, distal, 2B2
type: Disease
alternative label: Arthrogryposis, distal, type 2B2
mnemonic: DA2B2
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B2 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618435
comment: phenotype
database: MIM

Arthrogryposis, distal, 2B3
type: Disease
mnemonic: DA2B3
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618436
comment: phenotype
database: MIM

Arthrogryposis, distal, 2B4
type: Disease
alternative label: Arthrogryposis, distal, type 2B4
mnemonic: DA2B4
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures.

Arthrogryposis, distal, 3
type: Disease
alternative label: Arthrogryposis multiplex congenita, distal, type IIA
alternative label: Camptodactyly, cleft palate, and clubfoot
alternative label: Gordon syndrome
mnemonic: DA3
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA3 features include short stature and cleft palate.

http://purl.uniprot.org/mim/114300
comment: phenotype
database: MIM

Arthrogryposis, distal, 5
type: Disease
alternative label: Arthrogryposis with oculomotor limitation and electroretinal abnormalities
alternative label: DAIIB
alternative label: Distal arthrogryposis type IIB
alternative label: Oculomelic amyoplasia
mnemonic: DA5
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5 features include ocular abnormalities, typically ptosis, ophthalmoplegia and/or strabismus, in addition to contractures of the skeletal muscles. Some patients have pulmonary hypertension as a result of restrictive lung disease.

http://purl.uniprot.org/mim/108145
comment: phenotype
database: MIM

Arthrogryposis, distal, 5D
type: Disease
mnemonic: DA5D
comment: An autosomal recessive form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA5D is characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, clubfoot and/or a calcaneovalgus deformity, extension contractures of the knee, unilateral ptosis or ptosis that is more severe on one side, a round-shaped face, arched eyebrows, a bulbous upturned nose, and micrognathia. Patients do not have ophthalmoplegia.

http://purl.uniprot.org/mim/615065
comment: phenotype
database: MIM

Arthrogryposis, distal, 7
type: Disease
alternative label: Dutch-Kentucky syndrome
alternative label: Hecht syndrome
alternative label: Trismus-pseudocamptodactyly syndrome
mnemonic: DA7
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature.

http://purl.uniprot.org/mim/158300
comment: phenotype
database: MIM

Arthrogryposis, distal, with impaired proprioception and touch
type: Disease
mnemonic: DAIPT
comment: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DAIPT is an autosomal recessive disease characterized by selective loss of discriminative touch perception, ataxia, difficulty walking, dysmetria, and progressive skeletal contractures.

http://purl.uniprot.org/mim/617146
comment: phenotype
database: MIM

Arthrogryposis, impaired intellectual development, and seizures
type: Disease
mnemonic: AMRS
comment: A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia.

http://purl.uniprot.org/mim/615553
comment: phenotype
database: MIM

Arthrogryposis, Perthes disease, and upward gaze palsy
type: Disease
mnemonic: APUG
comment: An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease).

http://purl.uniprot.org/mim/614262
comment: phenotype
database: MIM

Arthrogryposis, renal dysfunction and cholestasis syndrome 1
type: Disease
alternative label: ARCS
alternative label: ARC syndrome
alternative label: Arthrogryposis renal dysfunction and cholestasis 1
mnemonic: ARCS1
comment: A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.

http://purl.uniprot.org/mim/208085
comment: phenotype
database: MIM

Arthrogryposis, renal dysfunction and cholestasis syndrome 2
type: Disease
alternative label: Arthrogryposis renal dysfunction and cholestasis 2
mnemonic: ARCS2
comment: A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.

http://purl.uniprot.org/mim/613404
comment: phenotype
database: MIM

ARTS syndrome
type: Disease
alternative label: Fatal X-linked ataxia with deafness and loss of vision
alternative label: MRXS18
alternative label: MRXSARTS
mnemonic: ARTS
comment: A disorder characterized by intellectual disability, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.

http://purl.uniprot.org/mim/301835
comment: phenotype
database: MIM

Asparagine synthetase deficiency
type: Disease
alternative label: ASNS deficiency
mnemonic: ASNSD
comment: An inborn error of asparagine biosynthesis that results in a severe neurologic disorder characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, cortical atrophy, and seizure or hyperekplexic activity.

http://purl.uniprot.org/mim/615574
comment: phenotype
database: MIM

Aspartylglucosaminuria
type: Disease
alternative label: AGA deficiency
alternative label: Aspartylglucosaminidase deficiency
alternative label: Aspartylglycosaminuria
alternative label: Glycosylasparaginase deficiency
mnemonic: AGU
comment: An inborn lysosomal storage disease causing excess accumulation of glycoasparagine in the body tissues and its increased excretion in urine. Clinical features include mild to severe intellectual disability manifesting from the age of two, coarse facial features and mild connective tissue abnormalities.

http://purl.uniprot.org/mim/208400
comment: phenotype
database: MIM

Asperger syndrome, X-linked, 1
type: Disease
mnemonic: ASPGX1
comment: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.

http://purl.uniprot.org/mim/300494
comment: phenotype
database: MIM

Asperger syndrome, X-linked, 2
type: Disease
mnemonic: ASPGX2
comment: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.

http://purl.uniprot.org/mim/300497
comment: phenotype
database: MIM

Asplenia, isolated congenital
type: Disease
alternative label: Congenital isolated hyposplenia
alternative label: Familial asplenia
alternative label: Splenic hypoplasia
mnemonic: ICAS
comment: A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome.

http://purl.uniprot.org/mim/271400
comment: phenotype
database: MIM

Asthma
type: Disease
alternative label: Bronchial asthma
mnemonic: ASTHMA
comment: The most common chronic disease affecting children and young adults. It is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. It is characterized by recurrent attacks of paroxysmal dyspnea, with wheezing due to spasmodic contraction of the bronchi.

http://purl.uniprot.org/mim/600807
comment: phenotype
database: MIM

Asthma, with nasal polyps and aspirin intolerance
type: Disease
alternative label: AIA
alternative label: ASA triad
alternative label: Aspirin-intolerant asthma
alternative label: Asthma and nasal polyps
alternative label: Asthma aspirin-induced
alternative label: Nasal polyps asthma and aspirin sensitivity
alternative label: Samter triad
mnemonic: ANPAI
comment: A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities.

http://purl.uniprot.org/mim/208550
comment: phenotype
database: MIM

Asthma-related traits 1
type: Disease
mnemonic: ASRT1
comment: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis.

http://purl.uniprot.org/mim/607277
comment: phenotype
database: MIM

Asthma-related traits 2
type: Disease
mnemonic: ASRT2
comment: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis.

http://purl.uniprot.org/mim/608584
comment: phenotype
database: MIM

Asthma-related traits 5
type: Disease
mnemonic: ASRT5
comment: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis.

http://purl.uniprot.org/mim/611064
comment: phenotype
database: MIM

Asthma-related traits 7
type: Disease
mnemonic: ASRT7
comment: Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis.

http://purl.uniprot.org/mim/611960
comment: phenotype
database: MIM

Ataxia and polyneuropathy, adult-onset
type: Disease
mnemonic: APAO
comment: A mitochondrial disease characterized by ataxia, axonal sensorimotor polyneuropathy, abnormal eye movements, and dysarthria.

http://purl.uniprot.org/mim/500010
comment: phenotype
database: MIM

Ataxia telangiectasia
type: Disease
alternative label: AT1
alternative label: Ataxia-telangiectasia
alternative label: Louis-Bar syndrome
mnemonic: AT
comment: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

http://purl.uniprot.org/mim/208900
comment: phenotype
database: MIM

Ataxia with vitamin E deficiency
type: Disease
alternative label: Ataxia Friedreich-like with selective vitamin E deficiency
alternative label: Familial isolated vitamin E deficiency
mnemonic: AVED
comment: An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss.

http://purl.uniprot.org/mim/277460
comment: phenotype
database: MIM

Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus
type: Disease
mnemonic: ACPHD
comment: A disease characterized by juvenile-onset diabetes and neurodegeneration, resulting in ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.

http://purl.uniprot.org/mim/616192
comment: phenotype
database: MIM

Ataxia, intention tremor, and hypotonia syndrome, childhood-onset
type: Disease
mnemonic: ATITHS
comment: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, mildly impaired intellectual development with speech delay or learning disabilities, delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Brain imaging shows cerebellar atrophy in some patients.

http://purl.uniprot.org/mim/619352
comment: phenotype
database: MIM

Ataxia, sensory, 1, autosomal dominant
type: Disease
alternative label: ADSA
mnemonic: SNAX1
comment: A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign).

http://purl.uniprot.org/mim/608984
comment: phenotype
database: MIM

Ataxia-oculomotor apraxia 3
type: Disease
mnemonic: AOA3
comment: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.

http://purl.uniprot.org/mim/615217
comment: phenotype
database: MIM

Ataxia-oculomotor apraxia 4
type: Disease
mnemonic: AOA4
comment: An autosomal recessive disease characterized by cerebellar ataxia, oculomotor apraxia, areflexia and peripheral neuropathy.

http://purl.uniprot.org/mim/616267
comment: phenotype
database: MIM

Ataxia-oculomotor apraxia syndrome
type: Disease
alternative label: AOA1
alternative label: Ataxia early-onset with oculomotor apraxia and hypoalbuminemia
alternative label: Ataxia-oculomotor apraxia 1
alternative label: Cerebellar ataxia early-onset with hypoalbuminemia
alternative label: EAOH
alternative label: EOCA-HA
mnemonic: AOA
comment: An autosomal recessive syndrome characterized by early-onset cerebellar ataxia, oculomotor apraxia, early areflexia and late peripheral neuropathy.

http://purl.uniprot.org/mim/208920
comment: phenotype
database: MIM

Ataxia-pancytopenia syndrome
type: Disease
alternative label: Myelocerebellar disorder
mnemonic: ATXPC
comment: An autosomal dominant disorder characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.

http://purl.uniprot.org/mim/159550
comment: phenotype
database: MIM

Ataxia-telangiectasia-like disorder 1
type: Disease
alternative label: Ataxia-telangiectasia-like disorder
alternative label: ATLD
mnemonic: ATLD1
comment: A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis.

http://purl.uniprot.org/mim/604391
comment: phenotype
database: MIM

Ataxia-telangiectasia-like disorder 2
type: Disease
mnemonic: ATLD2
comment: A neurodegenerative disorder due to defects in DNA excision repair. ATLD2 is characterized by developmental delay, ataxia, sensorineural hearing loss, short stature, cutaneous and ocular telangiectasia, and photosensitivity.

http://purl.uniprot.org/mim/615919
comment: phenotype
database: MIM

Atelis syndrome 1
type: Disease
alternative label: Mosaic variegated aneuploidy syndrome 5
alternative label: MVA5
alternative label: Poor growth, microcephaly, developmental delay, and anemia
mnemonic: ATELS1
comment: A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy.

http://purl.uniprot.org/mim/620184
comment: phenotype
database: MIM

Atelis syndrome 2
type: Disease
alternative label: Mosaic variegated aneuploidy syndrome 6
alternative label: MVA6
alternative label: Poor growth, microcephaly, dysmorphic facies, and cardiac defects
mnemonic: ATELS2
comment: A form of Atelis syndrome, an autosomal recessive neurodevelopmental disorder characterized by mild to severe developmental delay, learning difficulties, microcephaly, and growth restriction with short stature. Additional features include anemia, skin hyperpigmentation, ocular anomalies, congenital heart defects, and mild skeletal abnormalities. Death in childhood may occur. Patient cells show spontaneous chromosome breakage and chromosomal anomalies, hallmarked by segmented and dicentric chromosomes and mosaic variegated hyperploidy.

http://purl.uniprot.org/mim/620185
comment: phenotype
database: MIM

Atelosteogenesis 1
type: Disease
alternative label: AOI
alternative label: Atelosteogenesis type I
alternative label: Giant cell chondrodysplasia
alternative label: Spondylohumerofemoral hypoplasia
mnemonic: AO1
comment: A lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the mid-thoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes which are encapsulated in fibrous tissue.

http://purl.uniprot.org/mim/108720
comment: phenotype
database: MIM

Atelosteogenesis 2
type: Disease
alternative label: AO-II
alternative label: Atelosteogenesis type II
alternative label: Neonatal osseous dysplasia 1
alternative label: Neonatal osseous dysplasia type I
mnemonic: AO2
comment: A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.

http://purl.uniprot.org/mim/256050
comment: phenotype
database: MIM

Atelosteogenesis 3
type: Disease
alternative label: AOIII
alternative label: Atelosteogenesis type III
mnemonic: AO3
comment: A short-limb lethal skeletal dysplasia with vertebral abnormalities, disharmonious skeletal maturation, poorly modeled long bones and joint dislocations. Recurrent respiratory insufficiency and/or infections usually result in early death.

http://purl.uniprot.org/mim/108721
comment: phenotype
database: MIM

Athabaskan brainstem dysgenesis syndrome
type: Disease
alternative label: Narvajo brainstem syndrome
mnemonic: ABDS
comment: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies.

http://purl.uniprot.org/mim/601536
comment: phenotype
database: MIM

Atopic hypersensitivity
type: Disease
alternative label: Atopy
mnemonic: ATOPY
comment: A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma.

http://purl.uniprot.org/mim/147050
comment: phenotype
database: MIM

Atransferrinemia
type: Disease
mnemonic: ATRAF
comment: A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia.

http://purl.uniprot.org/mim/209300
comment: phenotype
database: MIM

Atrial fibrillation, familial, 10
type: Disease
mnemonic: ATFB10
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/614022
comment: phenotype
database: MIM

Atrial fibrillation, familial, 11
type: Disease
mnemonic: ATFB11
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/614049
comment: phenotype
database: MIM

Atrial fibrillation, familial, 12
type: Disease
mnemonic: ATFB12
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/614050
comment: phenotype
database: MIM

Atrial fibrillation, familial, 13
type: Disease
mnemonic: ATFB13
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/615377
comment: phenotype
database: MIM

Atrial fibrillation, familial, 14
type: Disease
mnemonic: ATFB14
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/615378
comment: phenotype
database: MIM

Atrial fibrillation, familial, 15
type: Disease
mnemonic: ATFB15
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/615770
comment: phenotype
database: MIM

Atrial fibrillation, familial, 16
type: Disease
mnemonic: ATFB16
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/613120
comment: phenotype
database: MIM

Atrial fibrillation, familial, 17
type: Disease
mnemonic: ATFB17
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/611819
comment: phenotype
database: MIM

Atrial fibrillation, familial, 18
type: Disease
mnemonic: ATFB18
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/617280
comment: phenotype
database: MIM

Atrial fibrillation, familial, 3
type: Disease
mnemonic: ATFB3
comment: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/607554
comment: phenotype
database: MIM

Atrial fibrillation, familial, 4
type: Disease
mnemonic: ATFB4
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/611493
comment: phenotype
database: MIM

Atrial fibrillation, familial, 6
type: Disease
mnemonic: ATFB6
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/612201
comment: phenotype
database: MIM

Atrial fibrillation, familial, 7
type: Disease
mnemonic: ATFB7
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/612240
comment: phenotype
database: MIM

Atrial fibrillation, familial, 9
type: Disease
mnemonic: ATFB9
comment: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

http://purl.uniprot.org/mim/613980
comment: phenotype
database: MIM

Atrial septal defect 2
type: Disease
mnemonic: ASD2
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including ventricular and atrioventricular septal defects, pulmonary valve thickening or insufficiency of the cardiac valves. The disease is not associated with defects in the cardiac conduction system or non-cardiac abnormalities.

http://purl.uniprot.org/mim/607941
comment: phenotype
database: MIM

Atrial septal defect 3
type: Disease
mnemonic: ASD3
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

http://purl.uniprot.org/mim/614089
comment: phenotype
database: MIM

Atrial septal defect 4
type: Disease
mnemonic: ASD4
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Patients show other heart abnormalities including defects in septation, chamber growth and valvulogenesis. The disease is not associated with defects in the cardiac conduction system or with non-cardiac abnormalities.

http://purl.uniprot.org/mim/611363
comment: phenotype
database: MIM

Atrial septal defect 5
type: Disease
mnemonic: ASD5
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

http://purl.uniprot.org/mim/612794
comment: phenotype
database: MIM

Atrial septal defect 6
type: Disease
mnemonic: ASD6
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

http://purl.uniprot.org/mim/613087
comment: phenotype
database: MIM

Atrial septal defect 7, with or without atrioventricular conduction defects
type: Disease
alternative label: ASD with atrioventricular conduction defects
alternative label: ASD with or without atrioventricular conduction defects
alternative label: Atrial septal defect 7 with or without AV conduction defects
mnemonic: ASD7
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases.

http://purl.uniprot.org/mim/108900
comment: phenotype
database: MIM

Atrial septal defect 8
type: Disease
mnemonic: ASD8
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

http://purl.uniprot.org/mim/614433
comment: phenotype
database: MIM

Atrial septal defect 9
type: Disease
mnemonic: ASD9
comment: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.

http://purl.uniprot.org/mim/614475
comment: phenotype
database: MIM

Atrial standstill 1
type: Disease
alternative label: Atrial cardiomyopathy with heart block
alternative label: Familial cardiomyopathy with conduction disturbance
mnemonic: ATRST1
comment: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.

http://purl.uniprot.org/mim/108770
comment: phenotype
database: MIM

Atrial standstill 2
type: Disease
alternative label: Atrial dilated cardiomyopathy with atrial standstill
alternative label: Atrial dilation and standstill
mnemonic: ATRST2
comment: A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm.

http://purl.uniprot.org/mim/615745
comment: phenotype
database: MIM

Atrichia with papular lesions
type: Disease
alternative label: Congenital atrichia
alternative label: Papular atrichia
mnemonic: APL
comment: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair.

http://purl.uniprot.org/mim/209500
comment: phenotype
database: MIM

Atrioventricular septal defect 2
type: Disease
mnemonic: AVSD2
comment: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

http://purl.uniprot.org/mim/606217
comment: phenotype
database: MIM

Atrioventricular septal defect 3
type: Disease
mnemonic: AVSD3
comment: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

http://purl.uniprot.org/mim/600309
comment: phenotype
database: MIM

Atrioventricular septal defect 4
type: Disease
mnemonic: AVSD4
comment: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

http://purl.uniprot.org/mim/614430
comment: phenotype
database: MIM

Atrioventricular septal defect 5
type: Disease
mnemonic: AVSD5
comment: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.

http://purl.uniprot.org/mim/614474
comment: phenotype
database: MIM

Attention deficit-hyperactivity disorder 7
type: Disease
mnemonic: ADHD7
comment: A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone.

http://purl.uniprot.org/mim/613003
comment: phenotype
database: MIM

Attention deficit-hyperactivity disorder 8
type: Disease
mnemonic: ADHD8
comment: A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism.

http://purl.uniprot.org/mim/619957
comment: phenotype
database: MIM

Au-Kline syndrome
type: Disease
mnemonic: AUKS
comment: A disorder characterized by intellectual disability, facial dysmorphism, cardiac defects, and connective tissue and skeletal abnormalities. Dysmorphic features include long palpebral fissures, ptosis, a broad prominent nasal bridge, hypoplastic alae nasi, an open downturned mouth, ears with underdeveloped and thick helices, high palate, and a unique tongue with a prominent median crease. Hypotonia, hyporeflexia, and high pain tolerance are additional features.

http://purl.uniprot.org/mim/616580
comment: phenotype
database: MIM

Auditory neuropathy and optic atrophy
type: Disease
mnemonic: ANOA
comment: An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts.

http://purl.uniprot.org/mim/617717
comment: phenotype
database: MIM

Auditory neuropathy, autosomal dominant 1
type: Disease
alternative label: Nonsyndromic auditory neuropathy autosomal dominant
alternative label: NSDAN
mnemonic: AUNA1
comment: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination.

http://purl.uniprot.org/mim/609129
comment: phenotype
database: MIM

Auditory neuropathy, autosomal dominant 3
type: Disease
mnemonic: AUNA3
comment: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA3 is a late-onset, progressive form.

http://purl.uniprot.org/mim/619832
comment: phenotype
database: MIM

Auditory neuropathy, autosomal recessive, 1
type: Disease
alternative label: Nonsyndromic auditory neuropathy autosomal recessive
alternative label: NSRAN
mnemonic: AUNB1
comment: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive.

http://purl.uniprot.org/mim/601071
comment: phenotype
database: MIM

Aural atresia, congenital
type: Disease
alternative label: Aural atresia, congenital, with hyposmia
mnemonic: CAA
comment: A rare anomaly of the ear that involves some degree of failure of the development of the external auditory canal. The malformation can also involve the tympanic membrane, ossicles and middle ear space. The inner ear development is most often normal. Different CAA forms are known. CAA type I is characterized by bony or fibrous atresia of the lateral part of the external auditory canal and an almost normal medial part and middle ear. CAA type II is the most frequent type and is characterized by partial or total aplasia of the external auditory canal. CAA type IIA involves an external auditory canal with either complete bony atresia of the medial part or partial aplasia that ends blindly in a fistula leading to a rudimentary tympanic membrane. CAA type IIB is characterized by bony stenosis of the total length of the external auditory canal. CAA type III involves bony atresia of the external auditory canal and a very small or absent middle-ear cavity.

http://purl.uniprot.org/mim/607842
comment: phenotype
database: MIM

Auriculocondylar syndrome 1
type: Disease
alternative label: ACS
alternative label: Dysgnathia complex
alternative label: Question mark ears syndrome
mnemonic: ARCND1
comment: An autosomal dominant craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

http://purl.uniprot.org/mim/602483
comment: phenotype
database: MIM

Auriculocondylar syndrome 2
type: Disease
mnemonic: ARCND2
comment: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

http://purl.uniprot.org/mim/614669
comment: phenotype
database: MIM

Auriculocondylar syndrome 3
type: Disease
mnemonic: ARCND3
comment: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.

http://purl.uniprot.org/mim/615706
comment: phenotype
database: MIM

Autism 15
type: Disease
mnemonic: AUTS15
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/612100
comment: phenotype
database: MIM

Autism 16
type: Disease
alternative label: Autism with or without seizures
mnemonic: AUTS16
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTS16 can be associated with epilepsy.

http://purl.uniprot.org/mim/613410
comment: phenotype
database: MIM

Autism 17
type: Disease
mnemonic: AUTS17
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/613436
comment: phenotype
database: MIM

Autism 19
type: Disease
mnemonic: AUTS19
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/615091
comment: phenotype
database: MIM

Autism 20
type: Disease
mnemonic: AUTS20
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. The transmission pattern of AUTS20 is consistent with autosomal dominant inheritance.

http://purl.uniprot.org/mim/618830
comment: phenotype
database: MIM

Autism, X-linked 1
type: Disease
mnemonic: AUTSX1
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/300425
comment: phenotype
database: MIM

Autism, X-linked 2
type: Disease
alternative label: Intellectual developmental disorder, X-linked
mnemonic: AUTSX2
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/300495
comment: phenotype
database: MIM

Autism, X-linked 3
type: Disease
mnemonic: AUTSX3
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/300496
comment: phenotype
database: MIM

Autism, X-linked 4
type: Disease
alternative label: Chromosome Xp22 deletion syndrome
mnemonic: AUTSX4
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/300830
comment: phenotype
database: MIM

Autism, X-linked 5
type: Disease
mnemonic: AUTSX5
comment: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

http://purl.uniprot.org/mim/300847
comment: phenotype
database: MIM

Autism, X-linked 6
type: Disease
alternative label: Epsilon-trimethyllysine hydroxylase deficiency
alternative label: TMLHED
mnemonic: AUTSX6
comment: A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTSX6 patients may respond favorably to carnitine supplementation.

http://purl.uniprot.org/mim/300872
comment: phenotype
database: MIM

Autoimmune disease 1
type: Disease
alternative label: Autoimmune disease susceptibility 1
alternative label: Autoimmune disease susceptibility locus chromosome 1p-related
alternative label: VAMAS2
alternative label: Vitiligo-associated multiple autoimmune disease susceptibility 2
alternative label: Vitiligo-associated multiple autoimmune disease type 2
mnemonic: AIS1
comment: An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis).

http://purl.uniprot.org/mim/607836
comment: phenotype
database: MIM

Autoimmune disease 6
type: Disease
alternative label: Autoimmune disease susceptibility 6
mnemonic: AIS6
comment: Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease.

http://purl.uniprot.org/mim/613551
comment: phenotype
database: MIM

Autoimmune disease, multisystem, infantile-onset, 1
type: Disease
mnemonic: ADMIO1
comment: A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty.

http://purl.uniprot.org/mim/615952
comment: phenotype
database: MIM

Autoimmune disease, multisystem, infantile-onset, 2
type: Disease
mnemonic: ADMIO2
comment: An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome.

http://purl.uniprot.org/mim/617006
comment: phenotype
database: MIM

Autoimmune disease, multisystem, with facial dysmorphism
type: Disease
alternative label: Syndromic multisystem autoimmune disease
mnemonic: ADMFD
comment: A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut.

http://purl.uniprot.org/mim/613385
comment: phenotype
database: MIM

Autoimmune interstitial lung, joint, and kidney disease
type: Disease
mnemonic: AILJK
comment: An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease.

http://purl.uniprot.org/mim/616414
comment: phenotype
database: MIM

Autoimmune lymphoproliferative syndrome 1A
type: Disease
alternative label: Autoimmune lymphoproliferative syndrome type IA
alternative label: Canale-Smith syndrome
alternative label: CSS
mnemonic: ALPS1A
comment: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

http://purl.uniprot.org/mim/601859
comment: phenotype
database: MIM

Autoimmune lymphoproliferative syndrome 1B
type: Disease
alternative label: Autoimmune lymphoproliferative syndrome type IB
alternative label: Canale-Smith syndrome
alternative label: CSS
mnemonic: ALPS1B
comment: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

Autoimmune lymphoproliferative syndrome 2A
type: Disease
alternative label: ALPS2
alternative label: Autoimmune lymphoproliferative syndrome, type II
alternative label: Autoimmune lymphoproliferative syndrome type IIA
mnemonic: ALPS2A
comment: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

http://purl.uniprot.org/mim/603909
comment: phenotype
database: MIM

Autoimmune lymphoproliferative syndrome 3
type: Disease
alternative label: Autoimmune lymphoproliferative syndrome, type III
alternative label: CVID9
alternative label: Immunodeficiency, common variable, 9
mnemonic: ALPS3
comment: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. CVID9 patients have B-cell deficiency and severe autoimmunity.

http://purl.uniprot.org/mim/615559
comment: phenotype
database: MIM

Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia
type: Disease
alternative label: APECED
alternative label: APS-1
alternative label: Autoimmune polyendocrine syndrome type I
alternative label: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
alternative label: Autoimmune polyendocrinopathy syndrome type I
alternative label: Autosomal dominant autoimmune polyendocrinopathy syndrome type I
alternative label: Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis
alternative label: PGA I
alternative label: Polyglandular autoimmune syndrome type I
alternative label: Polyglandular deficiency syndrome Persian-Jewish type
alternative label: Whitaker syndrome
mnemonic: APS1
comment: A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism.

http://purl.uniprot.org/mim/240300
comment: phenotype
database: MIM

Autoimmune thyroid disease 3
type: Disease
mnemonic: AITD3
comment: A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism.

http://purl.uniprot.org/mim/608175
comment: phenotype
database: MIM

Autoinflammation with arthritis and dyskeratosis
type: Disease
mnemonic: AIADK
comment: A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive.

http://purl.uniprot.org/mim/617388
comment: phenotype
database: MIM

Autoinflammation with episodic fever and lymphadenopathy
type: Disease
alternative label: Cleavage-resistant RIPK1-induced autoinflammatory syndrome
alternative label: CRIA syndrome
mnemonic: AIEFL
comment: An autosomal dominant immunologic disorder characterized by early onset of recurrent episodes of unexplained fever, lymphadenopathy, hepatosplenomegaly, and increased levels of inflammatory cytokines and chemokines in patient serum.

http://purl.uniprot.org/mim/618852
comment: phenotype
database: MIM

Autoinflammation with infantile enterocolitis
type: Disease
mnemonic: AIFEC
comment: An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias.

http://purl.uniprot.org/mim/616050
comment: phenotype
database: MIM

Autoinflammation, antibody deficiency, and immune dysregulation
type: Disease
mnemonic: APLAID
comment: An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies.

http://purl.uniprot.org/mim/614878
comment: phenotype
database: MIM

Autoinflammation, immune dysregulation, and eosinophilia
type: Disease
alternative label: Atopic dermatitis, enteritis, colitis, and eosinophilia
mnemonic: AIIDE
comment: An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature.

http://purl.uniprot.org/mim/618999
comment: phenotype
database: MIM

Autoinflammation, panniculitis, and dermatosis syndrome
type: Disease
alternative label: ORAS
alternative label: Otulin-related autoinflammatory syndrome
alternative label: Otulipenia
mnemonic: AIPDS
comment: An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency.

http://purl.uniprot.org/mim/617099
comment: phenotype
database: MIM

Autoinflammatory disease, systemic, X-linked
type: Disease
mnemonic: SAIDX
comment: An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy.

http://purl.uniprot.org/mim/301081
comment: phenotype
database: MIM

Autoinflammatory syndrome, familial, Behcet-like 1
type: Disease
mnemonic: AIFBL1
comment: An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis.

http://purl.uniprot.org/mim/616744
comment: phenotype
database: MIM

Autoinflammatory syndrome, familial, with or without immunodeficiency
type: Disease
mnemonic: AISIMD
comment: An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported.

http://purl.uniprot.org/mim/619375
comment: phenotype
database: MIM

Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
type: Disease
alternative label: Deficiency in ELF4, X-linked
alternative label: DEX
mnemonic: AIFBL2
comment: An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood.

http://purl.uniprot.org/mim/301074
comment: phenotype
database: MIM

Autoinflammatory-pancytopenia syndrome
type: Disease
mnemonic: AIPCS
comment: An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging.

http://purl.uniprot.org/mim/619858
comment: phenotype
database: MIM

Avascular necrosis of femoral head, primary, 1
type: Disease
alternative label: Aseptic necrosis of femoral head
alternative label: Avascular necrosis of femoral head
alternative label: Ischemic necrosis of femoral head
alternative label: Osteonecrosis of femoral head
mnemonic: ANFH1
comment: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/608805
comment: phenotype
database: MIM

Avascular necrosis of the femoral head, primary 2
type: Disease
mnemonic: ANFH2
comment: A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability.

http://purl.uniprot.org/mim/617383
comment: phenotype
database: MIM

Axenfeld-Rieger syndrome 1
type: Disease
alternative label: Iridogoniodysgenesis with somatic anomalies
alternative label: RGS
alternative label: RIEG
alternative label: Rieger syndrome type 1
mnemonic: RIEG1
comment: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.

http://purl.uniprot.org/mim/180500
comment: phenotype
database: MIM

Axenfeld-Rieger syndrome 3
type: Disease
alternative label: Anterior chamber cleavage syndrome
alternative label: Anterior segment mesenchymal dysgenesis
alternative label: Axenfeld anomaly
alternative label: Axenfeld-Rieger anomaly
alternative label: Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss
alternative label: Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
alternative label: Rieger anomaly
alternative label: Rieger syndrome type 3
mnemonic: RIEG3
comment: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.

http://purl.uniprot.org/mim/602482
comment: phenotype
database: MIM

Ayme-Gripp syndrome
type: Disease
mnemonic: AYGRP
comment: A multisystem disorder characterized by congenital cataracts, sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth.

http://purl.uniprot.org/mim/601088
comment: phenotype
database: MIM

Azoospermia, obstructive, with nephrolithiasis
type: Disease
mnemonic: OAZON
comment: An X-linked recessive, male infertility disorder characterized by epidydimal obstruction, hypercalciuria and kidney stones.

http://purl.uniprot.org/mim/301060
comment: phenotype
database: MIM

B-cell expansion with NFKB and T-cell anergy
type: Disease
mnemonic: BENTA
comment: An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy.

http://purl.uniprot.org/mim/616452
comment: phenotype
database: MIM

B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
type: Disease
alternative label: BILU syndrome
alternative label: Hoffman syndrome
mnemonic: BILU
comment: An autosomal dominant disorder characterized by humoral immunodeficiency with undetectable B cells, distal limb anomalies, dysmorphic facial features, and urogenital malformations.

http://purl.uniprot.org/mim/609296
comment: phenotype
database: MIM

Bachmann-Bupp syndrome
type: Disease
alternative label: NEDABA
alternative label: Neurodevelopmental disorder with alopecia and brain abnormalities
mnemonic: BABS
comment: An autosomal dominant disorder characterized by global developmental delay, alopecia, absolute or relative macrocephaly, and facial dysmorphism. Neuroimaging shows white matter abnormalities, prominent Virchow-Robin spaces, periventricular cysts, and abnormalities of the corpus callosum.

http://purl.uniprot.org/mim/619075
comment: phenotype
database: MIM

Bainbridge-Ropers syndrome
type: Disease
mnemonic: BRPS
comment: A syndrome characterized by psychomotor retardation, feeding problems, severe postnatal growth retardation in some patients, arched eyebrows, anteverted nares, and ulnar deviation of the hands.

http://purl.uniprot.org/mim/615485
comment: phenotype
database: MIM

Baker-Gordon syndrome
type: Disease
alternative label: NEDIMAE
alternative label: Neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram
mnemonic: BAGOS
comment: An autosomal dominant neurodevelopmental disorder characterized by infantile hypotonia, congenital ophthalmic abnormalities, involuntary and hyperkinetic movements, stereotypic behavior, poor or absent speech, EEG abnormalities, and global developmental delay varying in severity from moderate to profound. Behavioral characteristics include sleep disturbance and episodic agitation.

http://purl.uniprot.org/mim/618218
comment: phenotype
database: MIM

Baller-Gerold syndrome
type: Disease
alternative label: Craniosynostosis-radial aplasia syndrome
alternative label: Craniosynostosis with radial defects
mnemonic: BGS
comment: An autosomal recessive syndrome characterized by short stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome.

http://purl.uniprot.org/mim/218600
comment: phenotype
database: MIM

Bamforth-Lazarus syndrome
type: Disease
alternative label: Athyroidal hypothyroidism with spiky hair and cleft palate
mnemonic: BAMLAZ
comment: An autosomal recessive disease characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis.

http://purl.uniprot.org/mim/241850
comment: phenotype
database: MIM

Band heterotopia
type: Disease
alternative label: Band heterotopia of brain
mnemonic: BH
comment: A brain malformation of the lissencephaly spectrum, resulting from disordered neuronal migration and characterized by bands of gray matter interposed in the central white matter. Disease features include severe developmental delay with intellectual disability, enlarged head circumference, periventricular and ribbon-like subcortical heterotopia, polymicrogyria and agenesis of the corpus callosum.

http://purl.uniprot.org/mim/600348
comment: phenotype
database: MIM

Baraitser-Winter syndrome 1
type: Disease
alternative label: Cerebrofrontofacial syndrome
alternative label: Cerebrooculofacial lymphatic syndrome
alternative label: Chromosome 7p22 deletion syndrome
alternative label: COFLS
alternative label: Fryns-Aftimos syndrome
mnemonic: BRWS1
comment: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.

http://purl.uniprot.org/mim/243310
comment: phenotype
database: MIM

Baraitser-Winter syndrome 2
type: Disease
mnemonic: BRWS2
comment: A rare developmental disorder characterized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss.

http://purl.uniprot.org/mim/614583
comment: phenotype
database: MIM

Baralle-Macken syndrome
type: Disease
alternative label: Neurodevelopmental disorder with cataracts and variable microcephaly
mnemonic: BARMACS
comment: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and difficulty walking or inability to walk. Affected individuals have early-onset cataracts. Additional variable features are microcephaly, facial dysmorphism, metabolic abnormalities, spasticity, and lymphopenia.

http://purl.uniprot.org/mim/619255
comment: phenotype
database: MIM

Barber-Say syndrome
type: Disease
alternative label: BSS
alternative label: Hypertrichosis, atrophic skin, ectropion, and macrostomia
mnemonic: BBRSAY
comment: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.

http://purl.uniprot.org/mim/209885
comment: phenotype
database: MIM

Bardet-Biedl syndrome
type: Disease
alternative label: Laurence-Moon-Bardet-Biedl Syndrome
mnemonic: BBS
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/209900
comment: phenotype
database: MIM

Bardet-Biedl syndrome 1
type: Disease
mnemonic: BBS1
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

Bardet-Biedl syndrome 10
type: Disease
mnemonic: BBS10
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615987
comment: phenotype
database: MIM

Bardet-Biedl syndrome 11
type: Disease
mnemonic: BBS11
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615988
comment: phenotype
database: MIM

Bardet-Biedl syndrome 12
type: Disease
mnemonic: BBS12
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615989
comment: phenotype
database: MIM

Bardet-Biedl syndrome 13
type: Disease
mnemonic: BBS13
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615990
comment: phenotype
database: MIM

Bardet-Biedl syndrome 14
type: Disease
mnemonic: BBS14
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615991
comment: phenotype
database: MIM

Bardet-Biedl syndrome 15
type: Disease
mnemonic: BBS15
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615992
comment: phenotype
database: MIM

Bardet-Biedl syndrome 16
type: Disease
mnemonic: BBS16
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615993
comment: phenotype
database: MIM

Bardet-Biedl syndrome 17
type: Disease
mnemonic: BBS17
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615994
comment: phenotype
database: MIM

Bardet-Biedl syndrome 18
type: Disease
mnemonic: BBS18
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615995
comment: phenotype
database: MIM

Bardet-Biedl syndrome 19
type: Disease
mnemonic: BBS19
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615996
comment: phenotype
database: MIM

Bardet-Biedl syndrome 2
type: Disease
mnemonic: BBS2
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615981
comment: phenotype
database: MIM

Bardet-Biedl syndrome 20
type: Disease
mnemonic: BBS20
comment: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/619471
comment: phenotype
database: MIM

Bardet-Biedl syndrome 21
type: Disease
mnemonic: BBS21
comment: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/617406
comment: phenotype
database: MIM

Bardet-Biedl syndrome 22
type: Disease
mnemonic: BBS22
comment: A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/617119
comment: phenotype
database: MIM

Bardet-Biedl syndrome 3
type: Disease
mnemonic: BBS3
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/600151
comment: phenotype
database: MIM

Bardet-Biedl syndrome 4
type: Disease
mnemonic: BBS4
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615982
comment: phenotype
database: MIM

Bardet-Biedl syndrome 5
type: Disease
mnemonic: BBS5
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615983
comment: phenotype
database: MIM

Bardet-Biedl syndrome 6
type: Disease
mnemonic: BBS6
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/605231
comment: phenotype
database: MIM

Bardet-Biedl syndrome 7
type: Disease
mnemonic: BBS7
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615984
comment: phenotype
database: MIM

Bardet-Biedl syndrome 8
type: Disease
mnemonic: BBS8
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615985
comment: phenotype
database: MIM

Bardet-Biedl syndrome 9
type: Disease
mnemonic: BBS9
comment: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

http://purl.uniprot.org/mim/615986
comment: phenotype
database: MIM

Bare lymphocyte syndrome 1
type: Disease
alternative label: BLS I
alternative label: BLS type I
alternative label: HLA class I deficiency
mnemonic: BLS1
comment: A HLA class I deficiency. Contrary to bare lymphocyte syndromes type 2 and type 3, which are characterized by early-onset severe combined immunodeficiency, class I antigen deficiencies are not accompanied by particular pathologic manifestations during the first years of life. Systemic infections have not been described. Chronic bacterial infections, often beginning in the first decade of life, are restricted to the respiratory tract.

http://purl.uniprot.org/mim/604571
comment: phenotype
database: MIM

Bare lymphocyte syndrome 2
type: Disease
alternative label: Bare lymphocyte syndrome type II
alternative label: Bare lymphocyte syndrome type II complementation group A
alternative label: Bare lymphocyte syndrome type II complementation group B
alternative label: Bare lymphocyte syndrome type II complementation group C
alternative label: Bare lymphocyte syndrome type II complementation group D
alternative label: Bare lymphocyte syndrome type II complementation group E
alternative label: BLS II
alternative label: BLS type II
alternative label: Hereditary MHC class II deficiency
alternative label: HLA class II deficient combined immunodeficiency
alternative label: Major histocompatibility complex class II deficiency
alternative label: MHC-II deficiency
alternative label: SCID HLA class II-negative
alternative label: Severe combined immunodeficiency HLA class II-negative
mnemonic: BLS2
comment: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.

http://purl.uniprot.org/mim/209920
comment: phenotype
database: MIM

Barrett esophagus
type: Disease
alternative label: Barrett metaplasia
mnemonic: BE
comment: A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes.

http://purl.uniprot.org/mim/614266
comment: phenotype
database: MIM

Bart-Pumphrey syndrome
type: Disease
alternative label: Knuckle pads, leukonychia, and sensorineural deafness
mnemonic: BAPS
comment: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.

http://purl.uniprot.org/mim/149200
comment: phenotype
database: MIM

Barth syndrome
type: Disease
alternative label: 3-alpha-methylglutaconic aciduria type 2
alternative label: 3-methylglutaconic aciduria type 2
alternative label: 3-methylglutaconic aciduria type II
alternative label: AGM2
alternative label: Cardioskeletal myopathy-neutropenia
alternative label: Cardioskeletal myopathy with neutropenia and abnormal mitochondria
alternative label: INVM
alternative label: Left ventricular non-compaction isolated X-linked
alternative label: MGA2
alternative label: MGA type II
alternative label: MGCA2
alternative label: Non-compaction of left ventricular myocardium isolated X-linked
mnemonic: BTHS
comment: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non-compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.

http://purl.uniprot.org/mim/302060
comment: phenotype
database: MIM

Bartsocas-Papas syndrome
type: Disease
alternative label: Multiple pterygium syndrome, Aslan type
alternative label: Popliteal pterygium syndrome, lethal type
mnemonic: BPS
comment: An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported.

http://purl.uniprot.org/mim/263650
comment: phenotype
database: MIM

Bartsocas-Papas syndrome 2
type: Disease
alternative label: Popliteal pterygium syndrome, Bartsocas-Papas type 2
mnemonic: BPS2
comment: An autosomal recessive, severe form of popliteal pterygium syndrome. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but they are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations.

http://purl.uniprot.org/mim/619339
comment: phenotype
database: MIM

Bartter syndrome 1, antenatal
type: Disease
alternative label: aBS1
alternative label: Antenatal Bartter syndrome 1
alternative label: BS1
alternative label: Hyperprostaglandin E syndrome 1
alternative label: Hypokalemic alkalosis with hypercalciuria antenatal 1
mnemonic: BARTS1
comment: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

http://purl.uniprot.org/mim/601678
comment: phenotype
database: MIM

Bartter syndrome 2, antenatal
type: Disease
alternative label: aBS2
alternative label: Antenatal Bartter syndrome 2
alternative label: Bartter syndrome 2
alternative label: BS2
alternative label: Hyperprostanglandin E syndrome 2
alternative label: Hypokalemic alkalosis with hypercalciuria antenatal 2
mnemonic: BARTS2
comment: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

http://purl.uniprot.org/mim/241200
comment: phenotype
database: MIM

Bartter syndrome 3
type: Disease
alternative label: Classic Bartter syndrome
mnemonic: BARTS3
comment: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.

http://purl.uniprot.org/mim/607364
comment: phenotype
database: MIM

Bartter syndrome 4A, neonatal, with sensorineural deafness
type: Disease
alternative label: Bartter syndrome, neonatal, with sensorineural deafness
alternative label: BSND
alternative label: Hyperprostanglandin E syndrome 4
alternative label: Hypokalemic alkalosis with hypercalciuria antenatal 4
alternative label: Infantile Bartter syndrome with sensorineural deafness
alternative label: Sensorineural deafness with mild renal dysfunction
mnemonic: BARTS4A
comment: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4A is associated with sensorineural deafness.

http://purl.uniprot.org/mim/602522
comment: phenotype
database: MIM

Bartter syndrome 4B, neonatal, with sensorineural deafness
type: Disease
alternative label: Bartter syndrome 4B
alternative label: BSND
alternative label: Infantile Bartter syndrome with sensorineural deafness
mnemonic: BARTS4B
comment: A digenic form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS4B is associated with sensorineural deafness.

http://purl.uniprot.org/mim/613090
comment: phenotype
database: MIM

Bartter syndrome 5, antenatal, transient
type: Disease
alternative label: Bartter syndrome, type 5, antenatal, transient
mnemonic: BARTS5
comment: An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.

http://purl.uniprot.org/mim/300971
comment: phenotype
database: MIM

Basal cell carcinoma
type: Disease
alternative label: Multiple basal cell carcinoma
alternative label: Non-syndromic basal cell carcinoma
mnemonic: BCC
comment: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. BCC is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.

http://purl.uniprot.org/mim/605462
comment: phenotype
database: MIM

Basal cell carcinoma 7
type: Disease
mnemonic: BCC7
comment: A common malignant skin neoplasm that typically appears on hair-bearing skin, most commonly on sun-exposed areas. It is slow growing and rarely metastasizes, but has potentialities for local invasion and destruction. It usually develops as a flat, firm, pale area that is small, raised, pink or red, translucent, shiny, and waxy, and the area may bleed following minor injury. Tumor size can vary from a few millimeters to several centimeters in diameter.

http://purl.uniprot.org/mim/614740
comment: phenotype
database: MIM

Basal cell nevus syndrome
type: Disease
alternative label: Gorlin syndrome or Gorlin-Goltz syndrome
mnemonic: BCNS
comment: An autosomal dominant disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like basal cell carcinomas, fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas.

http://purl.uniprot.org/mim/109400
comment: phenotype
database: MIM

Basal ganglia calcification, idiopathic, 1
type: Disease
alternative label: Autosomal dominant adult-onset striopallidodentate calcinosis
alternative label: Bilateral striopallidodentate calcinosis
alternative label: BSPDC
alternative label: Cerebrovascular ferrocalcinosis
alternative label: Familial Fahr disease
alternative label: IBGC2
alternative label: IBGC3
alternative label: Idiopathic basal ganglia calcification 2
alternative label: Idiopathic basal ganglia calcification 3
alternative label: Non-arteriosclerotic, idiopathic, adult-onset cerebral calcification
alternative label: PFBC
alternative label: Primary familial brain calcification
mnemonic: IBGC1
comment: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

http://purl.uniprot.org/mim/213600
comment: phenotype
database: MIM

Basal ganglia calcification, idiopathic, 4
type: Disease
mnemonic: IBGC4
comment: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

http://purl.uniprot.org/mim/615007
comment: phenotype
database: MIM

Basal ganglia calcification, idiopathic, 5
type: Disease
mnemonic: IBGC5
comment: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

http://purl.uniprot.org/mim/615483
comment: phenotype
database: MIM

Basal ganglia calcification, idiopathic, 6
type: Disease
mnemonic: IBGC6
comment: A form of basal ganglia calcification, an autosomal dominant condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

http://purl.uniprot.org/mim/616413
comment: phenotype
database: MIM

Basal ganglia calcification, idiopathic, 7, autosomal recessive
type: Disease
mnemonic: IBGC7
comment: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

http://purl.uniprot.org/mim/618317
comment: phenotype
database: MIM

Basal ganglia calcification, idiopathic, 8, autosomal recessive
type: Disease
mnemonic: IBGC8
comment: A form of basal ganglia calcification, a genetically heterogeneous condition characterized by symmetric calcification in the basal ganglia and other brain regions. Affected individuals can either be asymptomatic or show a wide spectrum of neuropsychiatric symptoms, including parkinsonism, dystonia, tremor, ataxia, dementia, psychosis, seizures, and chronic headache. Serum levels of calcium, phosphate, alkaline phosphatase and parathyroid hormone are normal. The neuropathological hallmark of the disease is vascular and pericapillary calcification, mainly of calcium phosphate, in the affected brain areas.

http://purl.uniprot.org/mim/618824
comment: phenotype
database: MIM

Basal laminar drusen
type: Disease
alternative label: Drusen cuticular
alternative label: Drusen early adult-onset grouped
alternative label: Drusen of Bruch membrane
mnemonic: BLD
comment: Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss.

http://purl.uniprot.org/mim/126700
comment: phenotype
database: MIM

Basan syndrome
type: Disease
alternative label: Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities
alternative label: Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease
mnemonic: BSNS
comment: An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints.

http://purl.uniprot.org/mim/129200
comment: phenotype
database: MIM

Basel-Vanagaite-Smirin-Yosef syndrome
type: Disease
mnemonic: BVSYS
comment: An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability.

http://purl.uniprot.org/mim/616449
comment: phenotype
database: MIM

Basilicata-Akhtar syndrome
type: Disease
alternative label: MRXS36
mnemonic: MRXSBA
comment: An X-linked syndrome characterized by intellectual disability, global developmental delay, progressive gait disturbance, poor or absent speech, facial dysmorphism, and mild distal skeletal anomalies.

http://purl.uniprot.org/mim/301032
comment: phenotype
database: MIM

BDV syndrome
type: Disease
alternative label: Blakemore-Durmaz-Vasileiou syndrome
alternative label: IDDHH
alternative label: Intellectual developmental disorder and hypogonadotropic hypogonadism
mnemonic: BDVS
comment: An autosomal recessive disorder characterized by obesity, intellectual disability, and hypogonadotropic hypogonadism. Additional variable features include central hypothyroidism, hypotonia, and developmental delay.

http://purl.uniprot.org/mim/619326
comment: phenotype
database: MIM

Beare-Stevenson cutis gyrata syndrome
type: Disease
alternative label: Beare-Stevenson syndrome
alternative label: Cutis gyrata syndrome of Beare and Stevenson
mnemonic: BSTVS
comment: An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet.

http://purl.uniprot.org/mim/123790
comment: phenotype
database: MIM

Beaulieu-Boycott-Innes syndrome
type: Disease
mnemonic: BBIS
comment: An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur.

http://purl.uniprot.org/mim/613680
comment: phenotype
database: MIM

Beck-Fahrner syndrome
type: Disease
mnemonic: BEFAHRS
comment: A developmental disorder characterized by mild to severe intellectual disability, global developmental delay, hypotonia, autistic traits, movement disorders, growth abnormalities including overgrowth or poor growth, and facial dysmorphism. Both autosomal dominant and autosomal recessive inheritance has been reported.

http://purl.uniprot.org/mim/618798
comment: phenotype
database: MIM

Becker muscular dystrophy
type: Disease
mnemonic: BMD
comment: A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.

http://purl.uniprot.org/mim/300376
comment: phenotype
database: MIM

Beckwith-Wiedemann syndrome
type: Disease
alternative label: EMG syndrome
alternative label: Exomphalos-macroglossia-gigantism syndrome
mnemonic: BWS
comment: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors.

http://purl.uniprot.org/mim/130650
comment: phenotype
database: MIM

Behr syndrome
type: Disease
alternative label: Infantile hereditary optic atrophy with neurologic abnormalities
alternative label: Optic atrophy, infantile hereditary, with neurologic abnormalities
mnemonic: BEHRS
comment: An autosomal recessive syndrome characterized by optic atrophy beginning in early childhood associated with ataxia, pyramidal signs, spasticity, intellectual disability, and posterior column sensory loss. The ataxia, spasticity, and muscle contractures, mainly of the hip adductors, hamstrings, and soleus, are progressive and become more prominent in the second decade.

http://purl.uniprot.org/mim/210000
comment: phenotype
database: MIM

Benign essential blepharospasm
type: Disease
mnemonic: BEB
comment: A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.

http://purl.uniprot.org/mim/606798
comment: phenotype
database: MIM

Bent bone dysplasia syndrome 1
type: Disease
mnemonic: BBDS1
comment: A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia.

http://purl.uniprot.org/mim/614592
comment: phenotype
database: MIM

Bent bone dysplasia syndrome 2
type: Disease
mnemonic: BBDS2
comment: An autosomal recessive bone dysplasia characterized by defects in both the axial and appendicular skeleton, with radiographic findings showing undermineralized bone and a distinct angulation of the mid femoral shaft. Extraskeletal features include facial dysmorphisms, abnormally formed ears with tags, wide spaced nipples, and atrial septal defects. Elbow fusions, ulnar flexion contractions at the wrist, bilateral talipes equinovarus, and failure to mount a respiratory effort at birth suggest abnormalities in muscle function.

http://purl.uniprot.org/mim/620076
comment: phenotype
database: MIM

Bernard-Soulier syndrome
type: Disease
alternative label: BDPLT1
alternative label: Bernard-Soulier syndrome type A1
alternative label: Bernard-Soulier syndrome type B
alternative label: Bernard-Soulier syndrome type C
alternative label: Bleeding disorder platelet-type 1
alternative label: Giant platelet disease
alternative label: GPD
alternative label: Platelet glycoprotein Ib deficiency
alternative label: Von Willebrand factor receptor deficiency
mnemonic: BSS
comment: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

http://purl.uniprot.org/mim/231200
comment: phenotype
database: MIM

Bernard-Soulier syndrome A2, autosomal dominant
type: Disease
alternative label: Autosomal dominant benign Bernard-Soulier syndrome
alternative label: Benign mediterranean macrothrombocytopenia
mnemonic: BSSA2
comment: A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery.

http://purl.uniprot.org/mim/153670
comment: phenotype
database: MIM

Bestrophinopathy, autosomal recessive
type: Disease
alternative label: Bestrophinopathy
alternative label: Retinopathy Burgess-Black type
mnemonic: ARB
comment: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.

http://purl.uniprot.org/mim/611809
comment: phenotype
database: MIM

Beta-thalassemia
type: Disease
alternative label: Beta thalassemia
alternative label: Cooley's anemia
alternative label: Erythroblastic anemia
alternative label: Mediterranean anemia
alternative label: Thalassemia major
alternative label: Thalassemia minor
mnemonic: B-THAL
comment: A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of beta-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. Absence of beta chain causes beta(0)-thalassemia, while reduced amounts of detectable beta globin causes beta(+)-thalassemia. In the severe forms of beta-thalassemia, the excess alpha globin chains accumulate in the developing erythroid precursors in the marrow. Their deposition leads to a vast increase in erythroid apoptosis that in turn causes ineffective erythropoiesis and severe microcytic hypochromic anemia. Clinically, beta-thalassemia is divided into thalassemia major which is transfusion dependent, thalassemia intermedia (of intermediate severity), and thalassemia minor that is asymptomatic.

http://purl.uniprot.org/mim/613985
comment: phenotype
database: MIM

Beta-thalassemia, dominant, inclusion body type
type: Disease
alternative label: Beta thalassemia dominant inclusion body type
alternative label: Dyserythropoietic anemia congenital Irish or Weatherall type
mnemonic: B-THALIB
comment: An autosomal dominant form of beta thalassemia characterized by moderate anemia, lifelong jaundice, cholelithiasis and splenomegaly, marked morphologic changes in the red cells, erythroid hyperplasia of the bone marrow with increased numbers of multinucleate red cell precursors, and the presence of large inclusion bodies in the normoblasts, both in the marrow and in the peripheral blood after splenectomy.

http://purl.uniprot.org/mim/603902
comment: phenotype
database: MIM

Beta-ureidopropionase deficiency
type: Disease
mnemonic: UPB1D
comment: An inborn error of metabolism due to a defect in pyrimidine degradation. It is characterized by muscular hypotonia, dystonic movements, scoliosis, microcephaly and severe developmental delay. Patients show strongly elevated levels of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid in plasma, cerebrospinal fluid and urine.

http://purl.uniprot.org/mim/613161
comment: phenotype
database: MIM

Bethlem myopathy 1
type: Disease
alternative label: Bethlem myopathy
alternative label: LGMDD5
alternative label: Muscular dystrophy, benign congenital
alternative label: Muscular dystrophy, limb-girdle, autosomal dominant 5
alternative label: Myopathy, benign congenital, with contractures
mnemonic: BTHLM1
comment: A benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles.

http://purl.uniprot.org/mim/158810
comment: phenotype
database: MIM

Bethlem myopathy 2
type: Disease
alternative label: EDS, myopathic
alternative label: EDSMYP
alternative label: Ehlers-Danlos syndrome, myopathic
mnemonic: BTHLM2
comment: A form of Bethlem myopathy, a benign proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. BTHLM2 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/616471
comment: phenotype
database: MIM

Beukes familial hip dysplasia
type: Disease
alternative label: Beukes hip dysplasia
alternative label: Hip dysplasia, Beukes type
alternative label: Premature degenerative osteoarthropathy
mnemonic: BFHD
comment: A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems.

http://purl.uniprot.org/mim/142669
comment: phenotype
database: MIM

Bietti crystalline corneoretinal dystrophy
type: Disease
alternative label: Bietti crystalline dystrophy
alternative label: Bietti tapetoretinal degeneration with marginal corneal dystrophy
alternative label: Crystalline retinopathy
mnemonic: BCD
comment: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.

http://purl.uniprot.org/mim/210370
comment: phenotype
database: MIM

Bifid nose, with or without anorectal and renal anomalies
type: Disease
alternative label: Bifid nose renal agenesis and anorectal malformations syndrome
mnemonic: BNAR
comment: A disease characterized by the presence of a bifid nose usually associated with renal agenesis and anorectal malformations. A bifid nose is a congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation.

http://purl.uniprot.org/mim/608980
comment: phenotype
database: MIM

Bilateral optic nerve hypoplasia
type: Disease
alternative label: Bilateral optic nerve aplasia
mnemonic: BONH
comment: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary.

http://purl.uniprot.org/mim/165550
comment: phenotype
database: MIM

Bile acid conjugation defect 1
type: Disease
mnemonic: BACD1
comment: An autosomal recessive metabolic disorder characterized by reduced biliary secretion of conjugated bile acids, fat malabsorption, and fat-soluble vitamin deficiency. Clinical manifestations include rickets with variable growth failure due to vitamin D deficiency, and coagulopathy due to deficiency of vitamin K-dependent clotting factors. Additional variable features include pruritis, anemia, hepatomegaly, and bile duct proliferation on liver biopsy. Laboratory studies show abnormally increased levels of unconjugated bile acids.

http://purl.uniprot.org/mim/619232
comment: phenotype
database: MIM

Bile acid malabsorption, primary, 1
type: Disease
mnemonic: PBAM1
comment: An autosomal recessive intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids.

http://purl.uniprot.org/mim/613291
comment: phenotype
database: MIM

Bile acid malabsorption, primary, 2
type: Disease
mnemonic: PBAM2
comment: An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease.

http://purl.uniprot.org/mim/619481
comment: phenotype
database: MIM

Biliary, renal, neurologic, and skeletal syndrome
type: Disease
alternative label: BRENS syndrome
mnemonic: BRENS
comment: An autosomal recessive ciliopathy with multisystemic manifestations including severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis, postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development.

http://purl.uniprot.org/mim/619534
comment: phenotype
database: MIM

Biotinidase deficiency
type: Disease
alternative label: Late-onset MCD
alternative label: Late-onset multiple carboxylase deficiency
alternative label: MCD juvenile form
alternative label: Multiple carboxylase deficiency, juvenile-onset
alternative label: Multiple carboxylase deficiency, late-onset
mnemonic: BTD deficiency
comment: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur.

http://purl.uniprot.org/mim/253260
comment: phenotype
database: MIM

Birbeck granule deficiency
type: Disease
alternative label: Absence of Birbeck granules
mnemonic: BIRGD
comment: A condition characterized by the absence of Birbeck granules in epidermal Langerhans cells. Despite the lack of Birbeck granules, Langerhans cells are present in normal numbers and have normal morphologic characteristics and antigen-presenting capacity.

http://purl.uniprot.org/mim/613393
comment: phenotype
database: MIM

Birk-Barel syndrome
type: Disease
mnemonic: BIBARS
comment: A syndrome characterized by intellectual disability, hypotonia, hyperactivity, and facial dysmorphism. BIBARS transmission pattern is consistent with autosomal dominant inheritance with paternal imprinting.

http://purl.uniprot.org/mim/612292
comment: phenotype
database: MIM

Birk-Landau-Perez syndrome
type: Disease
mnemonic: BILAPES
comment: An autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.

http://purl.uniprot.org/mim/617595
comment: phenotype
database: MIM

Birt-Hogg-Dube syndrome
type: Disease
alternative label: Fibrofolliculomas with trichodiscomas and acrochordons
mnemonic: BHD
comment: A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients.

http://purl.uniprot.org/mim/135150
comment: phenotype
database: MIM

Bjoernstad syndrome
type: Disease
alternative label: Bjornstad syndrome
alternative label: Pili torti and nerve deafness
alternative label: PTD
mnemonic: BJS
comment: An autosomal recessive disease characterized by congenital sensorineural hearing loss and twisted hairs (pili torti). Pili torti is a condition in which the hair shafts are flattened at irregular intervals and twisted 180 degrees from the normal axis, making the hair extremely brittle.

http://purl.uniprot.org/mim/262000
comment: phenotype
database: MIM

Bladder cancer
type: Disease
alternative label: Urinary bladder cancer
alternative label: Urothelial carcinoma of the bladder
mnemonic: BLC
comment: A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences.

http://purl.uniprot.org/mim/109800
comment: phenotype
database: MIM

Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT
type: Disease
alternative label: Atony of urinary bladder
mnemonic: BAIPRCK
comment: An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood.

http://purl.uniprot.org/mim/191800
comment: phenotype
database: MIM

Blau syndrome
type: Disease
alternative label: ACUG
alternative label: Arthrocutaneouveal granulomatosis
alternative label: EOS
alternative label: Familial granulomatosis blau type
alternative label: Familial granulomatous inflammatory arthritis dermatitis and uveitis
alternative label: Familial juvenile systemic granulomatosis
alternative label: Jabs syndrome
alternative label: Sarcoidosis, early-onset
mnemonic: BLAUS
comment: An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.

http://purl.uniprot.org/mim/186580
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 11
type: Disease
alternative label: Glycoprotein VI deficiency
alternative label: GP VI deficiency
mnemonic: BDPLT11
comment: A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.

http://purl.uniprot.org/mim/614201
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 13
type: Disease
alternative label: Bleeding disorder due to defective platelet thromboxane A2 receptor
mnemonic: BDPLT13
comment: A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding.

http://purl.uniprot.org/mim/614009
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 15
type: Disease
alternative label: Autosomal dominant macrothrombocytopenia ACTN1-related
mnemonic: BDPLT15
comment: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.

http://purl.uniprot.org/mim/615193
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 16
type: Disease
alternative label: Glanzmann thrombasthenia-like with macrothrombocytopenia 1
mnemonic: BDPLT16
comment: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities.

http://purl.uniprot.org/mim/187800
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 17
type: Disease
alternative label: Autosomal dominant macrothrombocytopenia GFI1B-related
alternative label: Autosomal dominant platelet disorder GFI1B-related
alternative label: Hereditary thrombasthenia-thrombocytopenia
mnemonic: BDPLT17
comment: An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery.

http://purl.uniprot.org/mim/187900
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 18
type: Disease
mnemonic: BDPLT18
comment: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.

http://purl.uniprot.org/mim/615888
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 19
type: Disease
mnemonic: BDPLT19
comment: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia.

http://purl.uniprot.org/mim/616176
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 20
type: Disease
mnemonic: BDPLT20
comment: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant.

http://purl.uniprot.org/mim/616913
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 21
type: Disease
mnemonic: BDPLT21
comment: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia.

http://purl.uniprot.org/mim/617443
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 22
type: Disease
mnemonic: BDPLT22
comment: An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia.

http://purl.uniprot.org/mim/618462
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 24
type: Disease
alternative label: Bleeding disorder, platelet-type, 24, autosomal dominant
alternative label: Glanzmann thrombasthenia-like with macrothrombocytopenia 2
mnemonic: BDPLT24
comment: An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency.

http://purl.uniprot.org/mim/619271
comment: phenotype
database: MIM

Bleeding disorder, platelet-type, 8
type: Disease
alternative label: ADP platelet receptor P2Y12 deficiency
alternative label: Bleeding disorder due to P2RY12 defect
alternative label: P2RY12 deficiency
alternative label: P2Y12 deficiency
mnemonic: BDPLT8
comment: A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation.

http://purl.uniprot.org/mim/609821
comment: phenotype
database: MIM

Blepharocheilodontic syndrome 1
type: Disease
alternative label: BCDS
alternative label: BCD SYNDROME
alternative label: Blepharocheilodontic syndrome
alternative label: Clefting, ectropion, and conical teeth
alternative label: Ectropion, inferior, with cleft lip and/or palate
alternative label: Elschnig syndrome
alternative label: Lagophthalmia with bilateral cleft lip and palate
mnemonic: BCDS1
comment: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.

http://purl.uniprot.org/mim/119580
comment: phenotype
database: MIM

Blepharocheilodontic syndrome 2
type: Disease
mnemonic: BCDS2
comment: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.

http://purl.uniprot.org/mim/617681
comment: phenotype
database: MIM

Blepharophimosis, ptosis, and epicanthus inversus syndrome
type: Disease
alternative label: Autosomal dominant BPES type I
alternative label: Autosomal recessive BPES type I
alternative label: Blepharophimosis syndrome
alternative label: BPES type I
alternative label: BPES type II
alternative label: BPES with Duane retraction syndrome
alternative label: BPES without ovarian failure
alternative label: BPES with ovarian failure
mnemonic: BPES
comment: A disorder characterized by eyelid dysplasia, small palpebral fissures, drooping eyelids and a skin fold curving in the mediolateral direction, inferior to the inner canthus. In type I BPSE (BPES1) eyelid abnormalities are associated with female infertility. Affected females show an ovarian deficit due to primary amenorrhea or to premature ovarian failure (POF). In type II BPSE (BPES2) affected individuals show only the eyelid defects.

http://purl.uniprot.org/mim/110100
comment: phenotype
database: MIM

Blepharophimosis-impaired intellectual development syndrome
type: Disease
mnemonic: BIS
comment: An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity.

http://purl.uniprot.org/mim/619293
comment: phenotype
database: MIM

Blistering, acantholytic, of oral and laryngeal mucosa
type: Disease
mnemonic: ABOLM
comment: An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle.

http://purl.uniprot.org/mim/619226
comment: phenotype
database: MIM

Bloom syndrome
type: Disease
alternative label: BLS
alternative label: BS
alternative label: MGRISCE1
alternative label: Microcephaly, growth restriction, and increased sister chromatid exchange 1
mnemonic: BLM
comment: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

http://purl.uniprot.org/mim/210900
comment: phenotype
database: MIM

Blue cone monochromacy
type: Disease
alternative label: Blue cone monochromatism
alternative label: CBBM
alternative label: Colorblindness blue-mono-cone-monochromatic type
mnemonic: BCM
comment: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia.

http://purl.uniprot.org/mim/303700
comment: phenotype
database: MIM

Boerjeson-Forssman-Lehmann syndrome
type: Disease
alternative label: BORJ
alternative label: Borjeson-Forssman syndrome
alternative label: Mental deficiency-epilepsy- endocrine disorders
mnemonic: BFLS
comment: An X-linked recessive disorder characterized by moderate to severe intellectual disability, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.

http://purl.uniprot.org/mim/301900
comment: phenotype
database: MIM

Bohring-Opitz syndrome
type: Disease
alternative label: Bohring syndrome
alternative label: C-like syndrome
alternative label: Opitz trigonocephaly-like syndrome
mnemonic: BOPS
comment: A syndrome characterized by severe intrauterine growth retardation, poor feeding, profound intellectual disability, trigonocephaly, prominent metopic suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows and wrists with deviation of the wrists and metacarpophalangeal joints.

http://purl.uniprot.org/mim/605039
comment: phenotype
database: MIM

Bone fragility with contractures, arterial rupture, and deafness
type: Disease
alternative label: LH3 deficiency
alternative label: Lysyl hydroxylase 3 deficiency
mnemonic: BCARD
comment: An autosomal recessive connective tissue disorder, secondary to lysyl hydroxylase 3 deficiency. It is characterized by congenital malformations severely affecting multiple tissues and organs. Clinical features include growth retardation, craniofacial dysmorphism, popliteal and cerebral aneurysm, cerebral arterial hemorrhage, skin blistering and easy bruisability, and osteopenia.

http://purl.uniprot.org/mim/612394
comment: phenotype
database: MIM

Bone marrow failure and diabetes mellitus syndrome
type: Disease
mnemonic: BMFDMS
comment: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature.

http://purl.uniprot.org/mim/620044
comment: phenotype
database: MIM

Bone marrow failure syndrome 1
type: Disease
alternative label: BMFF
alternative label: Familial bone marrow failure
mnemonic: BMFS1
comment: An autosomal dominant disease characterized by aplastic anemia and myelodysplasia resulting from bone marrow failure. Aplastic anemia is a form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. Myelodysplasia is a clonal hematopoietic stem cell disorder in which immature cells in the bone marrow become malformed and dysfunctional.

http://purl.uniprot.org/mim/614675
comment: phenotype
database: MIM

Bone marrow failure syndrome 2
type: Disease
mnemonic: BMFS2
comment: An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features.

http://purl.uniprot.org/mim/615715
comment: phenotype
database: MIM

Bone marrow failure syndrome 3
type: Disease
mnemonic: BMFS3
comment: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/617052
comment: phenotype
database: MIM

Bone marrow failure syndrome 4
type: Disease
mnemonic: BMFS4
comment: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618116
comment: phenotype
database: MIM

Bone marrow failure syndrome 5
type: Disease
mnemonic: BMFS5
comment: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS5 is an autosomal dominant form characterized by infantile onset of severe red cell anemia requiring transfusion. Additional features include hypogammaglobulinemia, poor growth with microcephaly, developmental delay, and seizures.

http://purl.uniprot.org/mim/618165
comment: phenotype
database: MIM

Bone marrow failure syndrome 6
type: Disease
mnemonic: BMFS6
comment: A form of bone marrow failure syndrome, a heterogeneous group of life-threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS6 is an autosomal dominant form characterized by intermittent neutropenia, lymphopenia, or anemia associated with hypocellular bone marrow, and increased susceptibility to cancer.

http://purl.uniprot.org/mim/618849
comment: phenotype
database: MIM

Boomerang dysplasia
type: Disease
mnemonic: BOOMD
comment: A perinatal lethal osteochondrodysplasia characterized by absence or underossification of the limb bones and vertebrae. Patients manifest dwarfism with short, bowed, rigid limbs and characteristic facies. Boomerang dysplasia is distinguished from atelosteogenesis on the basis of a more severe defect in mineralization, with complete absence of ossification in some limb elements and vertebral segments.

http://purl.uniprot.org/mim/112310
comment: phenotype
database: MIM

Bosch-Boonstra-Schaaf optic atrophy syndrome
type: Disease
mnemonic: BBSOAS
comment: An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.

http://purl.uniprot.org/mim/615722
comment: phenotype
database: MIM

Bosley-Salih-Alorainy syndrome
type: Disease
mnemonic: BSAS
comment: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest intellectual disability and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation.

Bosma arhinia microphthalmia syndrome
type: Disease
alternative label: Arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism
alternative label: Arhinia choanal atresia microphthalmia
alternative label: Bosma Henkin Christiansen syndrome
alternative label: Congenital absence of nose and anterior nasopharynx
mnemonic: BAMS
comment: An autosomal dominant syndrome characterized by severe hypoplasia of the nose, palatal abnormalities, hypoplasia of the eyes, sensory abnormalities of taste and smell, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence.

http://purl.uniprot.org/mim/603457
comment: phenotype
database: MIM

Bothnia retinal dystrophy
type: Disease
alternative label: Vasterbotten dystrophy
mnemonic: BRD
comment: A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.

http://purl.uniprot.org/mim/607475
comment: phenotype
database: MIM

Boucher-Neuhauser syndrome
type: Disease
alternative label: Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy
mnemonic: BNHS
comment: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present.

http://purl.uniprot.org/mim/215470
comment: phenotype
database: MIM

Boudin-Mortier syndrome
type: Disease
alternative label: Tall stature and long digits with extra epiphyses
mnemonic: BOMOS
comment: An autosomal recessive disorder characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, some patients show joint hypermobility and dilation of the aortic root.

http://purl.uniprot.org/mim/619543
comment: phenotype
database: MIM

Bowen-Conradi syndrome
type: Disease
alternative label: Bowen syndrome Hutterite type
mnemonic: BWCNS
comment: A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life.

http://purl.uniprot.org/mim/211180
comment: phenotype
database: MIM

Brachycephaly, trichomegaly, and developmental delay
type: Disease
alternative label: MacInnes syndrome
alternative label: MCINS
mnemonic: BTDD
comment: An autosomal dominant developmental disorder characterized by brachycephaly, ciliary trichomegaly, dysmorphic features of the face and hands, hearing loss, and developmental delay with short stature. Intellectual disability and autism spectrum disorder may be present in some patients.

http://purl.uniprot.org/mim/617412
comment: phenotype
database: MIM

Brachydactyly A1
type: Disease
alternative label: Farabee-type brachydactyly
mnemonic: BDA1
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/112500
comment: phenotype
database: MIM

Brachydactyly A1, C
type: Disease
alternative label: Brachydactyly A1C
alternative label: Brachydactyly type A1 C
mnemonic: BDA1C
comment: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1C inheritance can be autosomal dominant or autosomal recessive. Autosomal dominant BDA1C has a milder phenotype.

http://purl.uniprot.org/mim/615072
comment: phenotype
database: MIM

Brachydactyly A1, D
type: Disease
alternative label: Brachydactyly, type A1, D
mnemonic: BDA1D
comment: A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant.

http://purl.uniprot.org/mim/616849
comment: phenotype
database: MIM

Brachydactyly A2
type: Disease
alternative label: Brachymesophalangy II
alternative label: Mohr-Wriedt type brachydactyly
mnemonic: BDA2
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.

http://purl.uniprot.org/mim/112600
comment: phenotype
database: MIM

Brachydactyly B1
type: Disease
alternative label: BDB
alternative label: Brachydactyly type B
mnemonic: BDB1
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type B1 the middle phalanges are short but in addition the terminal phalanges are rudimentary or absent. Both fingers and toes are affected. The thumbs and big toes are usually deformed. Symphalangism is also a feature.

http://purl.uniprot.org/mim/113000
comment: phenotype
database: MIM

Brachydactyly B2
type: Disease
mnemonic: BDB2
comment: A form of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly.

http://purl.uniprot.org/mim/611377
comment: phenotype
database: MIM

Brachydactyly C
type: Disease
alternative label: Brachydactyly Haws type
mnemonic: BDC
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others.

http://purl.uniprot.org/mim/113100
comment: phenotype
database: MIM

Brachydactyly D
type: Disease
alternative label: Stub thumb
mnemonic: BDD
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes.

http://purl.uniprot.org/mim/113200
comment: phenotype
database: MIM

Brachydactyly E1
type: Disease
alternative label: BDE
alternative label: Brachydactyly type E
mnemonic: BDE1
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. Brachydactyly type E1 is characterized by shortening limited to fourth metacarpals and/or metatarsals.

http://purl.uniprot.org/mim/113300
comment: phenotype
database: MIM

Brachydactyly E2
type: Disease
mnemonic: BDE2
comment: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. Wide variability in the number of digits affected occurs from person to person, even in the same family. Some individuals are moderately short of stature. In brachydactyly type E2 variable combinations of metacarpals are involved, with shortening also of the first and third distal and the second and fifth middle phalanges.

http://purl.uniprot.org/mim/613382
comment: phenotype
database: MIM

Brachydactyly-syndactyly syndrome
type: Disease
mnemonic: BDSD
comment: A disease characterized by generalized shortening of the hands and feet, broad and short distal phalanges of the thumbs, and cutaneous syndactyly of toes 2 and 3. The limb phenotypes observed in this syndrome overlap those of brachydactyly types A4, D, E and syndactyly type 1.

http://purl.uniprot.org/mim/610713
comment: phenotype
database: MIM

Brachydactyly-syndactyly-oligodactyly syndrome
type: Disease
mnemonic: BDSDO
comment: A syndrome characterized by a complex brachydactyly-syndactyly-oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes.

Brachyolmia 3
type: Disease
alternative label: Autosomal dominant brachyolmia
alternative label: Brachyrachia
mnemonic: BCYM3
comment: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM3 is an autosomal dominant form with severe scoliosis with or without kyphosis, and flattened irregular cervical vertebrae.

http://purl.uniprot.org/mim/113500
comment: phenotype
database: MIM

Brachyolmia type 4 with mild epiphyseal and metaphyseal changes
type: Disease
alternative label: SEMD Pakistani type
alternative label: Spondylodysplasia and premature pubarche
alternative label: Spondylometaepiphyseal dysplasia Pakistani type
mnemonic: BCYM4
comment: A form of brachyolmia, a clinically and genetically heterogeneous skeletal dysplasia primarily affecting the spine and characterized by a short trunk, short stature, and platyspondyly. BCYM4 is an autosomal recessive form with mild epiphyseal and metaphyseal changes. Clinical features include short stature evidenced at birth, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints. Some BCYM4 patients may manifest premature pubarche and hyperandrogenism associated with skeletal dysplasia and short stature.

http://purl.uniprot.org/mim/612847
comment: phenotype
database: MIM

Braddock-Carey syndrome 2
type: Disease
mnemonic: BRDCS2
comment: An autosomal recessive disease characterized by microcephaly, congenital thrombocytopenia, and facial dysmorphisms including Pierre-Robin sequence.

http://purl.uniprot.org/mim/619981
comment: phenotype
database: MIM

Brain abnormalities, neurodegeneration, and dysosteosclerosis
type: Disease
mnemonic: BANDDOS
comment: An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum.

http://purl.uniprot.org/mim/618476
comment: phenotype
database: MIM

Brain malformations with or without urinary tract defects
type: Disease
mnemonic: BRMUTD
comment: A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects.

http://purl.uniprot.org/mim/613735
comment: phenotype
database: MIM

Brain small vessel disease 1 with or without ocular anomalies
type: Disease
alternative label: ADT1P
alternative label: Brain small vessel disease with Axenfeld-Rieger anomaly
alternative label: Brain small vessel disease with hemorrhage
alternative label: Gould syndrome 1
alternative label: Hemiplegia infantile with porencephaly
alternative label: Leukoencephalopathy with Axenfeld-Rieger anomaly
alternative label: POREN1
alternative label: Porencephaly 1
alternative label: Porencephaly type 1
alternative label: Porencephaly type 1 autosomal dominant
alternative label: Retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant
alternative label: T1P
mnemonic: BSVD1
comment: An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD1 features include cerebral hemorrage, unilateral fluid-filled cysts or cavities within the cerebral hemispheres, leukoencephalopathy, hemiplegia, seizures, intellectual disability, and facial paresis. Affected individuals may manifest variable visual defects and ocular anomalies.

http://purl.uniprot.org/mim/175780
comment: phenotype
database: MIM

Brain small vessel disease 2
type: Disease
alternative label: Gould syndrome 2
alternative label: POREN2
alternative label: Porencephaly 2
mnemonic: BSVD2
comment: An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures.

http://purl.uniprot.org/mim/614483
comment: phenotype
database: MIM

Brain small vessel disease 3
type: Disease
mnemonic: BSVD3
comment: An autosomal recessive form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD3 patients may have disease onset in utero or early infancy with subsequent global developmental delay, spasticity, and porencephaly on brain imaging. Other patients may have normal or mildly delayed development with sudden onset of intracranial hemorrhage causing acute neurologic deterioration.

http://purl.uniprot.org/mim/618360
comment: phenotype
database: MIM

Branched-chain ketoacid dehydrogenase kinase deficiency
type: Disease
mnemonic: BCKDKD
comment: A metabolic disorder characterized by autism, epilepsy, intellectual disability, and reduced branched-chain amino acids.

http://purl.uniprot.org/mim/614923
comment: phenotype
database: MIM

Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
type: Disease
mnemonic: BCAHH
comment: An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature.

http://purl.uniprot.org/mim/620186
comment: phenotype
database: MIM

Branchiooculofacial syndrome
type: Disease
alternative label: BOF syndrome
alternative label: Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging
alternative label: Branchio-oculo-facial syndrome
alternative label: Hemangiomatous branchial clefts-lip pseudocleft syndrome
alternative label: Lip pseudocleft-hemangiomatous branchial cyst syndrome
mnemonic: BOFS
comment: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies.

http://purl.uniprot.org/mim/113620
comment: phenotype
database: MIM

Branchiootic syndrome 1
type: Disease
alternative label: BO syndrome 1
alternative label: Branchio-otic dysplasia 1
alternative label: Branchio-otic syndrome 1
mnemonic: BOS1
comment: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

Branchiootic syndrome 3
type: Disease
alternative label: BO syndrome 3
alternative label: Branchio-otic dysplasia 3
alternative label: Branchio-otic syndrome 3
mnemonic: BOS3
comment: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

http://purl.uniprot.org/mim/608389
comment: phenotype
database: MIM

Branchiootorenal syndrome 1
type: Disease
alternative label: BOR syndrome 1
alternative label: Branchiootorenal dysplasia 1
alternative label: Branchio-oto-renal dysplasia 1
alternative label: Branchio-oto-renal syndrome type 1
alternative label: Melnick-Fraser syndrome
mnemonic: BOR1
comment: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

http://purl.uniprot.org/mim/113650
comment: phenotype
database: MIM

Branchiootorenal syndrome 2
type: Disease
alternative label: BOR syndrome 2
alternative label: Branchiootorenal dysplasia 2
alternative label: Branchio-oto-renal dysplasia 2
alternative label: Branchio-oto-renal syndrome type 2
mnemonic: BOR2
comment: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

http://purl.uniprot.org/mim/610896
comment: phenotype
database: MIM

Breast cancer
type: Disease
alternative label: Breast cancer familial
alternative label: Breast cancer familial male
alternative label: Breast carcinoma
alternative label: Mammary carcinoma
mnemonic: BC
comment: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.

http://purl.uniprot.org/mim/114480
comment: phenotype
database: MIM

Breast cancer, lobular
type: Disease
mnemonic: LBC
comment: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast.

http://purl.uniprot.org/mim/137215
comment: phenotype
database: MIM

Breast-ovarian cancer, familial, 1
type: Disease
alternative label: Breast cancer familial 1
alternative label: Ovarian cancer familial 1
mnemonic: BROVCA1
comment: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

http://purl.uniprot.org/mim/604370
comment: phenotype
database: MIM

Breast-ovarian cancer, familial, 2
type: Disease
alternative label: Breast cancer familial 2
alternative label: Ovarian cancer familial 2
mnemonic: BROVCA2
comment: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

http://purl.uniprot.org/mim/612555
comment: phenotype
database: MIM

Breast-ovarian cancer, familial, 3
type: Disease
alternative label: Breast cancer familial 3
alternative label: Ovarian cancer familial 3
mnemonic: BROVCA3
comment: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

http://purl.uniprot.org/mim/613399
comment: phenotype
database: MIM

Breast-ovarian cancer, familial, 4
type: Disease
alternative label: Breast cancer familial 4
alternative label: Ovarian cancer familial 4
mnemonic: BROVCA4
comment: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

http://purl.uniprot.org/mim/614291
comment: phenotype
database: MIM

Brittle cornea syndrome 1
type: Disease
alternative label: Corneal fragility keratoglobus blue sclerae joint hyperextensibility
alternative label: Dysgenesis mesodermalis corneae et sclerae
alternative label: EDS6B formerly
alternative label: Ehlers-Danlos syndrome type VIB formerly
alternative label: Fragilitas oculi with joint hyperextensibility
mnemonic: BCS1
comment: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6).

http://purl.uniprot.org/mim/229200
comment: phenotype
database: MIM

Brittle cornea syndrome 2
type: Disease
mnemonic: BCS2
comment: A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.

http://purl.uniprot.org/mim/614170
comment: phenotype
database: MIM

Brody disease
type: Disease
alternative label: Brody myopathy
mnemonic: BROD
comment: An autosomal recessive muscular disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur.

http://purl.uniprot.org/mim/601003
comment: phenotype
database: MIM

Bronchiectasis with or without elevated sweat chloride 1
type: Disease
alternative label: Cystic fibrosis-like syndrome
mnemonic: BESC1
comment: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.

http://purl.uniprot.org/mim/211400
comment: phenotype
database: MIM

Bronchiectasis with or without elevated sweat chloride 2
type: Disease
alternative label: Cystic fibrosis-like syndrome
mnemonic: BESC2
comment: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.

http://purl.uniprot.org/mim/613021
comment: phenotype
database: MIM

Bronchiectasis with or without elevated sweat chloride 3
type: Disease
alternative label: Cystic fibrosis-like syndrome
mnemonic: BESC3
comment: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.

http://purl.uniprot.org/mim/613071
comment: phenotype
database: MIM

Brooke-Spiegler syndrome
type: Disease
alternative label: BSS
alternative label: SBS
alternative label: Spiegler-Brooke syndrome
mnemonic: BRSS
comment: An autosomal dominant disorder characterized by the appearance of multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. These tumors are typically located in the head and neck region, appear in early adulthood, and gradually increase in size and number throughout life.

http://purl.uniprot.org/mim/605041
comment: phenotype
database: MIM

Brown-Vialetto-Van Laere syndrome 1
type: Disease
alternative label: Bulbar palsy progressive with sensorineural deafness
alternative label: Pontobulbar palsy with deafness
mnemonic: BVVLS1
comment: A rare neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, which develop over a relatively short period of time in a previously healthy individual. Sensorineural hearing loss may precede the neurological signs. The course is invariably progressive, but the rate of decline is variable within and between families. With disease evolution, long tract signs, lower motor neuron signs, cerebellar ataxia and lower cranial nerve (III-VI) palsies develop, giving rise to a complex picture resembling amyotrophic lateral sclerosis. Diaphragmatic weakness and respiratory compromise are some of the most distressing features, leading to recurrent chest infections and respiratory failure, which are often the cause of patients' demise.

http://purl.uniprot.org/mim/211530
comment: phenotype
database: MIM

Brown-Vialetto-Van Laere syndrome 2
type: Disease
mnemonic: BVVLS2
comment: An autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting resulting in respiratory insufficiency and loss of independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation.

http://purl.uniprot.org/mim/614707
comment: phenotype
database: MIM

Bruck syndrome 1
type: Disease
alternative label: Arthrogryposis-like disorder
alternative label: Kuskokwim disease
mnemonic: BRKS1
comment: A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia.

http://purl.uniprot.org/mim/259450
comment: phenotype
database: MIM

Bruck syndrome 2
type: Disease
alternative label: Osteogenesis imperfecta with congenital joint contractures
mnemonic: BRKS2
comment: An autosomal recessive disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. It is distinguished from osteogenesis imperfecta by the absence of hearing loss and dentinogenesis imperfecta, and by the presence of clubfoot and congenital joint limitations.

http://purl.uniprot.org/mim/609220
comment: phenotype
database: MIM

Brugada syndrome 1
type: Disease
mnemonic: BRGDA1
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/601144
comment: phenotype
database: MIM

Brugada syndrome 2
type: Disease
mnemonic: BRGDA2
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/611777
comment: phenotype
database: MIM

Brugada syndrome 3
type: Disease
mnemonic: BRGDA3
comment: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/611875
comment: phenotype
database: MIM

Brugada syndrome 4
type: Disease
mnemonic: BRGDA4
comment: A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/611876
comment: phenotype
database: MIM

Brugada syndrome 5
type: Disease
mnemonic: BRGDA5
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/612838
comment: phenotype
database: MIM

Brugada syndrome 6
type: Disease
mnemonic: BRGDA6
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/613119
comment: phenotype
database: MIM

Brugada syndrome 7
type: Disease
mnemonic: BRGDA7
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

Brugada syndrome 8
type: Disease
mnemonic: BRGDA8
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/613123
comment: phenotype
database: MIM

Brugada syndrome 9
type: Disease
mnemonic: BRGDA9
comment: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

http://purl.uniprot.org/mim/616399
comment: phenotype
database: MIM

Brunet-Wagner neurodevelopmental syndrome
type: Disease
mnemonic: BRUWAG
comment: An autosomal recessive disorder characterized by severe developmental delay, intellectual disability, poor or absent speech, infantile hypotonia, inability to walk, behavioral abnormalities, and dysmorphic features.

http://purl.uniprot.org/mim/619690
comment: phenotype
database: MIM

Brunner syndrome
type: Disease
alternative label: Susceptibility to antisocial behavior
mnemonic: BRNRS
comment: A form of X-linked non-dysmorphic mild intellectual disability. Male patients are affected by borderline intellectual deficit and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior.

http://purl.uniprot.org/mim/300615
comment: phenotype
database: MIM

Bryant-Li-Bhoj neurodevelopmental syndrome 1
type: Disease
mnemonic: BRYLIB1
comment: An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects.

http://purl.uniprot.org/mim/619720
comment: phenotype
database: MIM

Bryant-Li-Bhoj neurodevelopmental syndrome 2
type: Disease
mnemonic: BRYLIB2
comment: An autosomal dominant disorder predominantly characterized by global developmental delay, impaired intellectual development, poor or absent speech, and delayed motor milestones. Clinical manifestations are highly variable, including abnormal head shape, dysmorphic facial features, oculomotor abnormalities, feeding problems, and non-specific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects.

http://purl.uniprot.org/mim/619721
comment: phenotype
database: MIM

Budd-Chiari syndrome
type: Disease
alternative label: Chiari syndrome
alternative label: Membranous obstruction of the inferior vena cava
alternative label: MOVC
mnemonic: BDCHS
comment: A syndrome caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava. Obstructions are generally caused by thrombosis and lead to hepatic congestion and ischemic necrosis. Clinical manifestations observed in the majority of patients include hepatomegaly, right upper quadrant pain and abdominal ascites. Budd-Chiari syndrome is associated with a combination of disease states including primary myeloproliferative syndromes and thrombophilia due to factor V Leiden, protein C deficiency and antithrombin III deficiency. Budd-Chiari syndrome is a rare but typical complication in patients with polycythemia vera.

http://purl.uniprot.org/mim/600880
comment: phenotype
database: MIM

Bulimia nervosa 2
type: Disease
mnemonic: BULN2
comment: A psychiatric disorder characterized by eating an unusually large amount of food in a short period of time, followed by inappropriate acts (purging) to avert weight gain. Compensatory behavior includes self-induced vomiting, laxative abuse, and excessive exercise.

http://purl.uniprot.org/mim/607499
comment: phenotype
database: MIM

Buratti-Harel syndrome
type: Disease
mnemonic: BURHAS
comment: An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features.

http://purl.uniprot.org/mim/619314
comment: phenotype
database: MIM

Burkitt lymphoma
type: Disease
alternative label: Burkitt tumor
mnemonic: BL
comment: A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass.

http://purl.uniprot.org/mim/113970
comment: phenotype
database: MIM

Burn-McKeown syndrome
type: Disease
alternative label: Oculootofacial dysplasia
alternative label: OOFD
mnemonic: BMKS
comment: A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal.

http://purl.uniprot.org/mim/608572
comment: phenotype
database: MIM

Buschke-Ollendorff syndrome
type: Disease
alternative label: Dermatofibrosis lenticularis disseminata with osteopoikilosis
alternative label: Dermatoosteopoikilosis
alternative label: Disseminated dermatofibrosis with osteopoikilosis
alternative label: Osteopathia condensans disseminata
mnemonic: BOS
comment: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.

http://purl.uniprot.org/mim/166700
comment: phenotype
database: MIM

Butyrylcholinesterase deficiency
type: Disease
alternative label: Acholinesterasemia
alternative label: Fluoride-resistant butyrylcholinesterase deficiency Japanese type
alternative label: Fluoride-resistant hypocholinesterasemia Japanese type
alternative label: Postanesthetic apnea
alternative label: Pseudocholinesterase deficiency
alternative label: Suxamethonium sensitivity
mnemonic: BCHED
comment: An autosomal recessive metabolic condition characterized by increased sensitivity to certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium. BCHED results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency.

http://purl.uniprot.org/mim/617936
comment: phenotype
database: MIM

C syndrome
type: Disease
alternative label: Opitz trigonocephaly syndrome
alternative label: Trigonocephaly syndrome
mnemonic: CSYN
comment: A syndrome characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.

http://purl.uniprot.org/mim/211750
comment: phenotype
database: MIM

Caffey disease
type: Disease
alternative label: Infantile cortical hyperostosis
mnemonic: CAFYD
comment: An autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age.

http://purl.uniprot.org/mim/114000
comment: phenotype
database: MIM

Calcification of joints and arteries
type: Disease
mnemonic: CALJA
comment: A condition characterized by adult-onset calcification of the lower extremity arteries, including the iliac, femoral and tibial arteries, and hand and foot capsule joints. Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands.

http://purl.uniprot.org/mim/211800
comment: phenotype
database: MIM

Calvarial doughnut lesions with bone fragility
type: Disease
alternative label: Doughnut lesions of skull, familial
mnemonic: CDL
comment: A rare autosomal dominant bone disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Patients present with childhood onset of primary osteoporosis and typical sclerotic doughnut-shaped lesions in the cranial bones.

http://purl.uniprot.org/mim/126550
comment: phenotype
database: MIM

Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
type: Disease
mnemonic: CDLSMD
comment: A severe form of calvarial doughnut lesions with bone fragility, a rare autosomal dominant disease characterized by low bone density, distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. CDLSMD patients show neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia.

Campomelic dysplasia
type: Disease
alternative label: Acampomelic campomelic dysplasia
alternative label: Acampomelic campomelic dysplasia with autosomal sex reversal
alternative label: Campomelic dysplasia with autosomal sex reversal
alternative label: Camptomelic dysplasia
alternative label: CMPD
alternative label: CMPD1
alternative label: CMPD1/SRA1
mnemonic: CMD1
comment: A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.

http://purl.uniprot.org/mim/114290
comment: phenotype
database: MIM

Camptodactyly, tall stature, and hearing loss syndrome
type: Disease
alternative label: CATSHL syndrome
mnemonic: CATSHLS
comment: An autosomal dominant syndrome characterized by permanent and irreducible flexion of one or more fingers of the hand and/or feet, tall stature, scoliosis and/or a pectus excavatum, and hearing loss. Affected individuals have developmental delay and/or intellectual disability, and several of these have microcephaly. Radiographic findings included tall vertebral bodies with irregular borders and broad femoral metaphyses with long tubular shafts. On audiological exam, each tested member have bilateral sensorineural hearing loss and absent otoacoustic emissions. The hearing loss was congenital or developed in early infancy, progressed variably in early childhood, and range from mild to severe. Computed tomography and magnetic resonance imaging reveal that the brain, middle ear, and inner ear are structurally normal.

http://purl.uniprot.org/mim/610474
comment: phenotype
database: MIM

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
type: Disease
alternative label: Arthropathy-camptodactyly syndrome
alternative label: Camptodactyly-arthropathy-pericarditis syndrome
alternative label: CAP syndrome
alternative label: Fibrosing serositis, familial
alternative label: Hypertrophic synovitis, congenital familial
alternative label: Jacobs syndrome
alternative label: PAC syndrome
alternative label: Pericarditis-arthropathy-camptodactyly syndrome
mnemonic: CACP
comment: An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions.

http://purl.uniprot.org/mim/208250
comment: phenotype
database: MIM

Camptosynpolydactyly, complex
type: Disease
alternative label: Camptopolydactyly, disorganization type
mnemonic: CCSPD
comment: An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails.

http://purl.uniprot.org/mim/607539
comment: phenotype
database: MIM

Camurati-Engelmann disease
type: Disease
alternative label: CED
alternative label: Diaphyseal dysplasia 1, progressive
alternative label: DPD1
alternative label: Engelmann disease
alternative label: PDD
alternative label: Progressive diaphyseal dysplasia
mnemonic: CAEND
comment: An autosomal dominant disorder characterized by hyperostosis and sclerosis of the diaphyses of long bones. The disease typically presents in early childhood with pain, muscular weakness and waddling gait, and in some cases other features such as exophthalmos, facial paralysis, hearing difficulties and loss of vision.

http://purl.uniprot.org/mim/131300
comment: phenotype
database: MIM

Canavan disease
type: Disease
alternative label: ACY2 deficiency
alternative label: Aminoacylase 2 deficiency
alternative label: ASPA deficiency
alternative label: Aspartoacylase deficiency
alternative label: Canavan-van Bogaert-Bertrand disease
alternative label: Spongy degeneration of central nervous system
mnemonic: CAND
comment: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average.

http://purl.uniprot.org/mim/271900
comment: phenotype
database: MIM

Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma
type: Disease
mnemonic: CAPOK
comment: An autosomal recessive genodermatosis characterized by hypo- and hyperpigmented macular skin lesions, progressive alopecia, palmoplantar keratoderma, dystrophic nails, teeth abnormalities and a predisposition to squamous cell carcinoma.

http://purl.uniprot.org/mim/618373
comment: phenotype
database: MIM

Candidiasis, familial, 4
type: Disease
alternative label: Candidiasis familial chronic mucocutaneous
alternative label: Chronic mucocutaneous candidiasis 4
mnemonic: CANDF4
comment: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

http://purl.uniprot.org/mim/613108
comment: phenotype
database: MIM

Candidiasis, familial, 6
type: Disease
alternative label: Candidiasis familial chronic mucocutaneous autosomal dominant
alternative label: Chronic mucocutaneous candidiasis 6
mnemonic: CANDF6
comment: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

http://purl.uniprot.org/mim/613956
comment: phenotype
database: MIM

Candidiasis, familial, 8
type: Disease
alternative label: Candidiasis familial chronic mucocutaneous autosomal recessive
mnemonic: CANDF8
comment: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

http://purl.uniprot.org/mim/615527
comment: phenotype
database: MIM

Candidiasis, familial, 9
type: Disease
mnemonic: CANDF9
comment: A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

http://purl.uniprot.org/mim/616445
comment: phenotype
database: MIM

Cap myopathy 1
type: Disease
alternative label: Cap disease
alternative label: Cap myopathy TPM3-related
mnemonic: CAPM1
comment: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and slowly progressive muscle weakness. Respiratory problems are common.

http://purl.uniprot.org/mim/609284
comment: phenotype
database: MIM

Cap myopathy 2
type: Disease
alternative label: Cap disease
alternative label: Cap myopathy TPM2-related
mnemonic: CAPM2
comment: A rare congenital skeletal muscle disorder characterized by the presence of cap-like structures which are well demarcated and peripherally located under the sarcolemma and show abnormal accumulation of sarcomeric proteins. Clinical features are early onset of hypotonia and non-progressive or slowly progressive muscle weakness. Respiratory problems are common.

http://purl.uniprot.org/mim/609285
comment: phenotype
database: MIM

Capillary malformation-arteriovenous malformation 1
type: Disease
mnemonic: CMAVM1
comment: A disorder characterized by atypical capillary malformations that are multiple, small, round to oval in shape and pinkish red in color. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. CMAVM1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/608354
comment: phenotype
database: MIM

Capillary malformation-arteriovenous malformation 2
type: Disease
mnemonic: CMAVM2
comment: An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome.

http://purl.uniprot.org/mim/618196
comment: phenotype
database: MIM

Capillary malformations, congenital
type: Disease
alternative label: Capillary malformations
alternative label: CMAL
alternative label: Familial multiple nevi flammei
alternative label: Hereditary capillary malformations
alternative label: Port-wine stain
mnemonic: CMC
comment: A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity.

http://purl.uniprot.org/mim/163000
comment: phenotype
database: MIM

Carbamoyl phosphate synthetase 1 deficiency
type: Disease
alternative label: Carbamoyl phosphate synthetase I deficiency
alternative label: CPS I deficiency
alternative label: Hyperammonemia due to carbamoyl phosphate synthetase I deficiency
mnemonic: CPS1D
comment: An autosomal recessive disorder of the urea cycle causing hyperammonemia. It can present as a devastating metabolic disease dominated by severe hyperammonemia in neonates or as a more insidious late-onset condition, generally manifesting as life-threatening hyperammonemic crises under catabolic situations. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and intellectual disability.

http://purl.uniprot.org/mim/237300
comment: phenotype
database: MIM

Carboxypeptidase N deficiency
type: Disease
mnemonic: CPND
comment: Patients affected present some combination of angioedema or chronic urticaria, as well as hay fever or asthma, and have also slightly depressed serum carboxy peptidase N, suggestive of autosomal recessive inheritance of this disorder.

http://purl.uniprot.org/mim/212070
comment: phenotype
database: MIM

Cardiac arrhythmia syndrome, with or without skeletal muscle weakness
type: Disease
alternative label: CPVT5
alternative label: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
mnemonic: CARDAR
comment: An autosomal recessive cardiac disorder characterized by stress-induced arrhythmias in infancy or early childhood. Patients present with recurrent syncope or cardiac arrest after physical activity or emotional stress. Sudden death may occur in early childhood. Some patients have muscle weakness.

http://purl.uniprot.org/mim/615441
comment: phenotype
database: MIM

Cardiac conduction disease with or without dilated cardiomyopathy
type: Disease
mnemonic: CCDD
comment: A cardiac disorder characterized by atrial tachyarrhythmia and conduction system disease. Some patients have dilated cardiomyopathy.

http://purl.uniprot.org/mim/616117
comment: phenotype
database: MIM

Cardiac valvular dysplasia 1
type: Disease
alternative label: Cardiac valvular defect, developmental
alternative label: CVDD
mnemonic: CVDP1
comment: An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.

http://purl.uniprot.org/mim/212093
comment: phenotype
database: MIM

Cardiac valvular dysplasia 2
type: Disease
mnemonic: CVDP2
comment: An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients.

http://purl.uniprot.org/mim/620067
comment: phenotype
database: MIM

Cardiac valvular dysplasia, X-linked
type: Disease
alternative label: Congenital valvular heart disease
alternative label: EDS5
alternative label: Ehlers-Danlos syndrome type V
alternative label: X-linked myxomatous valvular dystrophy
alternative label: XMVD
mnemonic: CVDPX
comment: A rare X-linked heart disease characterized by mitral and/or aortic valve regurgitation. The histologic features include fragmentation of collagenous bundles within the valve fibrosa and accumulation of proteoglycans, which produces excessive valve tissue leading to billowing of the valve leaflets.

http://purl.uniprot.org/mim/314400
comment: phenotype
database: MIM

Cardiac, facial, and digital anomalies with developmental delay
type: Disease
mnemonic: CAFDADD
comment: An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears.

http://purl.uniprot.org/mim/618164
comment: phenotype
database: MIM

Cardiac-urogenital syndrome
type: Disease
mnemonic: CUGS
comment: An autosomal dominant syndrome characterized by partial anomalous pulmonary venous return, tracheal anomalies, pulmonary hypoplasia, congenital diaphragmatic hernia, thyroid fibrosis, thymic involution, cleft spleen, penoscrotal hypospadias, and cryptorchidism.

http://purl.uniprot.org/mim/618280
comment: phenotype
database: MIM

Cardioacrofacial dysplasia 1
type: Disease
mnemonic: CAFD1
comment: An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly.

http://purl.uniprot.org/mim/619142
comment: phenotype
database: MIM

Cardioacrofacial dysplasia 2
type: Disease
mnemonic: CAFD2
comment: An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures.

http://purl.uniprot.org/mim/619143
comment: phenotype
database: MIM

Cardiofaciocutaneous syndrome 1
type: Disease
alternative label: Cardio-facio-cutaneous syndrome
alternative label: CFCS
alternative label: CFC syndrome
mnemonic: CFC1
comment: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.

http://purl.uniprot.org/mim/115150
comment: phenotype
database: MIM

Cardiofaciocutaneous syndrome 2
type: Disease
mnemonic: CFC2
comment: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1.

http://purl.uniprot.org/mim/615278
comment: phenotype
database: MIM

Cardiofaciocutaneous syndrome 3
type: Disease
mnemonic: CFC3
comment: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures.

http://purl.uniprot.org/mim/615279
comment: phenotype
database: MIM

Cardiofaciocutaneous syndrome 4
type: Disease
mnemonic: CFC4
comment: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and intellectual disability. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices.

http://purl.uniprot.org/mim/615280
comment: phenotype
database: MIM

Cardiofacioneurodevelopmental syndrome
type: Disease
mnemonic: CFNDS
comment: An autosomal recessive disorder characterized by global developmental delay, feeding difficulties, microcephaly and dysmorphic features. Additional features include cleft lip, cleft palate, variable cardiac defects, and abdominal situs inversus with asplenia. Brain imaging reveals cerebellar hypoplasia.

http://purl.uniprot.org/mim/619123
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1A
type: Disease
alternative label: Cardiomyopathy dilated with conduction defect 1
alternative label: CDCD1
mnemonic: CMD1A
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/115200
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction
type: Disease
mnemonic: CMD1AA
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/612158
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1BB
type: Disease
mnemonic: CMD1BB
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/612877
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction
type: Disease
alternative label: Cardiomyopathy dilated with left ventricular noncompaction
mnemonic: CMD1C
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle.

http://purl.uniprot.org/mim/601493
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1CC
type: Disease
mnemonic: CMD1CC
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613122
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1D
type: Disease
mnemonic: CMD1D
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/601494
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1DD
type: Disease
mnemonic: CMD1DD
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613172
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1E
type: Disease
alternative label: CDCD2
alternative label: Dilated cardiomyopathy with conduction defect 2
alternative label: Dilated cardiomyopathy with conduction disorder and arrhythmia
mnemonic: CMD1E
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/601154
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1EE
type: Disease
mnemonic: CMD1EE
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613252
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1FF
type: Disease
mnemonic: CMD1FF
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613286
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1G
type: Disease
mnemonic: CMD1G
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/604145
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1GG
type: Disease
mnemonic: CMD1GG
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613642
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1HH
type: Disease
mnemonic: CMD1HH
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613881
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1I
type: Disease
mnemonic: CMD1I
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/604765
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1II
type: Disease
mnemonic: CMD1II
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/615184
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1J
type: Disease
alternative label: Cardiomyopathy dilated with sensorineural hearing loss autosomal dominant
mnemonic: CMD1J
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.

http://purl.uniprot.org/mim/605362
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1JJ
type: Disease
mnemonic: CMD1JJ
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/615235
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1KK
type: Disease
mnemonic: CMD1KK
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/615248
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1L
type: Disease
mnemonic: CMD1L
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/606685
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1LL
type: Disease
mnemonic: CMD1LL
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/615373
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1M
type: Disease
mnemonic: CMD1M
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/607482
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1MM
type: Disease
mnemonic: CMD1MM
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/615396
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1NN
type: Disease
mnemonic: CMD1NN
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/615916
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1O
type: Disease
alternative label: Dilated cardiomyopathy with ventricular tachycardia
mnemonic: CMD1O
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/608569
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1P
type: Disease
mnemonic: CMD1P
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/609909
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1R
type: Disease
mnemonic: CMD1R
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613424
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1S
type: Disease
mnemonic: CMD1S
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613426
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1U
type: Disease
mnemonic: CMD1U
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613694
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1V
type: Disease
mnemonic: CMD1V
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/613697
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1W
type: Disease
mnemonic: CMD1W
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/611407
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1X
type: Disease
alternative label: Dilated cardiomyopathy with mild or no proximal muscle weakness
mnemonic: CMD1X
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/611615
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1Y
type: Disease
mnemonic: CMD1Y
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/611878
comment: phenotype
database: MIM

Cardiomyopathy, dilated 1Z
type: Disease
mnemonic: CMD1Z
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/611879
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2A
type: Disease
mnemonic: CMD2A
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/611880
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2B
type: Disease
mnemonic: CMD2B
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/614672
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2C
type: Disease
mnemonic: CMD2C
comment: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2C is an autosomal recessive form with variable severity and age of onset ranging from 2 to 20 years. Death in infancy or early childhood may occur in severely affected children.

http://purl.uniprot.org/mim/618189
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2D
type: Disease
mnemonic: CMD2D
comment: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset.

http://purl.uniprot.org/mim/619371
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2E
type: Disease
mnemonic: CMD2E
comment: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2E is an autosomal recessive form with neonatal or early childhood onset and rapid progression to cardiac failure.

http://purl.uniprot.org/mim/619492
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2F
type: Disease
mnemonic: CMD2F
comment: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2F is an autosomal recessive, early-onset form.

http://purl.uniprot.org/mim/619747
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2G
type: Disease
mnemonic: CMD2G
comment: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy.

http://purl.uniprot.org/mim/619897
comment: phenotype
database: MIM

Cardiomyopathy, dilated 2H
type: Disease
mnemonic: CMD2H
comment: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy.

http://purl.uniprot.org/mim/620203
comment: phenotype
database: MIM

Cardiomyopathy, dilated, with hypergonadotropic hypogonadism
type: Disease
alternative label: Cardiogenital syndrome
alternative label: Cardiomyopathy congestive with hypergonadotropic hypogonadism
alternative label: Cardiomyopathy dilated with premature ovarian failure
alternative label: Cardiomyopathy with primary testicular failure
alternative label: Genital anomaly with cardiomyopathy
alternative label: Malouf syndrome
alternative label: Najjar syndrome
mnemonic: CMDHH
comment: A disorder characterized by the association of genital anomalies, hypergonadotropic hypogonadism and dilated cardiomyopathy. Patients can present other variable clinical manifestations including intellectual disability, skeletal anomalies, scleroderma-like skin, graying and thinning of hair, osteoporosis. Dilated cardiomyopathy is characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia.

http://purl.uniprot.org/mim/212112
comment: phenotype
database: MIM

Cardiomyopathy, dilated, with woolly hair and keratoderma
type: Disease
alternative label: Carvajal syndrome
alternative label: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
mnemonic: DCWHK
comment: An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.

http://purl.uniprot.org/mim/605676
comment: phenotype
database: MIM

Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
type: Disease
mnemonic: DCWHKTA
comment: A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia.

http://purl.uniprot.org/mim/615821
comment: phenotype
database: MIM

Cardiomyopathy, dilated, X-linked 3B
type: Disease
alternative label: XLCM
alternative label: X-linked dilated cardiomyopathy
mnemonic: CMD3B
comment: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

http://purl.uniprot.org/mim/302045
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic
type: Disease
alternative label: ASH
alternative label: Asymmetric septal hypertrophy
alternative label: Familial hypertrophic cardiomyopathy
alternative label: FHC
alternative label: HCM
alternative label: Hypertrophic cardiomyopathy
alternative label: Hypertrophic subaortic stenosis, idiopathic
alternative label: Ventricular hypertrophy, hereditary
mnemonic: CMH
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/192600
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 1
type: Disease
mnemonic: CMH1
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Cardiomyopathy, familial hypertrophic 10
type: Disease
alternative label: Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 2
alternative label: MVC2
mnemonic: CMH10
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

http://purl.uniprot.org/mim/608758
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 11
type: Disease
mnemonic: CMH11
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/612098
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 12
type: Disease
mnemonic: CMH12
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/612124
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 13
type: Disease
mnemonic: CMH13
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613243
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 14
type: Disease
mnemonic: CMH14
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613251
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 15
type: Disease
mnemonic: CMH15
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613255
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 16
type: Disease
mnemonic: CMH16
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613838
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 17
type: Disease
mnemonic: CMH17
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613873
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 18
type: Disease
mnemonic: CMH18
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613874
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 2
type: Disease
mnemonic: CMH2
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/115195
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 20
type: Disease
mnemonic: CMH20
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613876
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 22
type: Disease
mnemonic: CMH22
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction
type: Disease
alternative label: Cardiomyopathy, familial hypertrophic 23, with or without LVNC
mnemonic: CMH23
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Cardiomyopathy, familial hypertrophic 24
type: Disease
mnemonic: CMH24
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

Cardiomyopathy, familial hypertrophic 25
type: Disease
alternative label: Cardiomyopathy, dilated, 1N
alternative label: CMD1N
mnemonic: CMH25
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/607487
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 26
type: Disease
mnemonic: CMH26
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/617047
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 27
type: Disease
mnemonic: CMH27
comment: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH27 is a severe, early-onset form with features of hypertrophic and dilated cardiomyopathy.

http://purl.uniprot.org/mim/618052
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 28
type: Disease
mnemonic: CMH28
comment: A form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH28 is an autosomal dominant form with incomplete penetrance.

http://purl.uniprot.org/mim/619402
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 3
type: Disease
mnemonic: CMH3
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/115196
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 4
type: Disease
mnemonic: CMH4
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/115197
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 6
type: Disease
alternative label: Familial hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome
mnemonic: CMH6
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.

http://purl.uniprot.org/mim/600858
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 7
type: Disease
mnemonic: CMH7
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613690
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 8
type: Disease
alternative label: Familial hypertrophic cardiomyopathy with mid-left ventricular chamber type 1
alternative label: MVC1
mnemonic: CMH8
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening.

http://purl.uniprot.org/mim/608751
comment: phenotype
database: MIM

Cardiomyopathy, familial hypertrophic 9
type: Disease
mnemonic: CMH9
comment: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/613765
comment: phenotype
database: MIM

Cardiomyopathy, familial restrictive 1
type: Disease
mnemonic: RCM1
comment: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

http://purl.uniprot.org/mim/115210
comment: phenotype
database: MIM

Cardiomyopathy, familial restrictive 3
type: Disease
mnemonic: RCM3
comment: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

http://purl.uniprot.org/mim/612422
comment: phenotype
database: MIM

Cardiomyopathy, familial restrictive 4
type: Disease
mnemonic: RCM4
comment: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

Cardiomyopathy, familial restrictive 5
type: Disease
mnemonic: RCM5
comment: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

Cardiomyopathy, familial restrictive 6
type: Disease
mnemonic: RCM6
comment: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function. RCM6 is an autosomal recessive, severe form characterized by prenatal onset, irreversible heart failure and early death.

http://purl.uniprot.org/mim/619433
comment: phenotype
database: MIM

Cardiomyopathy, infantile histiocytoid
type: Disease
alternative label: Cardiomyopathy focal lipid
alternative label: Cardiomyopathy infantile xanthomatous
alternative label: Cardiomyopathy oncocytic
mnemonic: CMIH
comment: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.

http://purl.uniprot.org/mim/500000
comment: phenotype
database: MIM

Cardiomyopathy, infantile hypertrophic
type: Disease
mnemonic: CMHI
comment: An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

http://purl.uniprot.org/mim/500006
comment: phenotype
database: MIM

Cardiospondylocarpofacial syndrome
type: Disease
alternative label: Forney Robinson Pascoe syndrome
alternative label: Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
mnemonic: CSCF
comment: A syndrome characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. CSCF transmission pattern is consistent with autosomal dominant inheritance.

http://purl.uniprot.org/mim/157800
comment: phenotype
database: MIM

Carey-Fineman-Ziter syndrome 1
type: Disease
alternative label: CFZ syndrome
alternative label: Congenital non-progressive myopathy with Moebius and Robin sequences
alternative label: Myopathy, congenital nonprogressive, with Moebius sequence and Robin sequence
mnemonic: CFZS1
comment: An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high-arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.

http://purl.uniprot.org/mim/254940
comment: phenotype
database: MIM

Carey-Fineman-Ziter syndrome 2
type: Disease
mnemonic: CFZS2
comment: An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Some patients manifest failure to thrive, axial hypotonia, and progressive scoliosis.

http://purl.uniprot.org/mim/619941
comment: phenotype
database: MIM

Carney complex 1
type: Disease
alternative label: CAR
alternative label: Carney complex, type 1
alternative label: Carney myxoma-endocrine complex
alternative label: Carney syndrome
alternative label: LAMB syndrome
alternative label: Myxoma, spotty pigmentation, and endocrine overactivity
alternative label: NAME syndrome
mnemonic: CNC1
comment: CNC is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas.

http://purl.uniprot.org/mim/160980
comment: phenotype
database: MIM

Carney complex variant
type: Disease
mnemonic: CACOV
comment: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history.

http://purl.uniprot.org/mim/608837
comment: phenotype
database: MIM

Carnitine palmitoyltransferase 1A deficiency
type: Disease
alternative label: Carnitine palmitoyltransferase I deficiency
alternative label: CPT1A deficiency
alternative label: CPT-I deficiency
mnemonic: CPT1AD
comment: Rare autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood.

http://purl.uniprot.org/mim/255120
comment: phenotype
database: MIM

Carnitine palmitoyltransferase 2 deficiency, infantile
type: Disease
alternative label: Carnitine palmitoyltransferase II deficiency, hepatocardiomuscular
alternative label: Carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia
alternative label: CPT2 deficiency, infantile
alternative label: CPT II deficiency, hepatic
mnemonic: CPT2DI
comment: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy.

http://purl.uniprot.org/mim/600649
comment: phenotype
database: MIM

Carnitine palmitoyltransferase 2 deficiency, lethal neonatal
type: Disease
alternative label: Carnitine palmitoyltransferase II deficiency, antenatal
alternative label: Carnitine palmitoyltransferase II deficiency, neonatal
alternative label: CPT2 deficiency, lethal neonatal
alternative label: CPT II deficiency, lethal neonatal
alternative label: Lethal neonatal CPT-II deficiency
mnemonic: CPT2DLN
comment: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation with fatal outcome, presenting shortly after birth. It is characterized by respiratory distress, seizures, altered mental status, hepatomegaly, cardiomegaly, cardiac arrhythmia, and, in many cases, dysmorphic features, renal dysgenesis, and migration defects. recessive.

http://purl.uniprot.org/mim/608836
comment: phenotype
database: MIM

Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-induced
type: Disease
alternative label: Carnitine palmitoyltransferase 2 deficiency, late-onset
alternative label: Carnitine palmitoyltransferase II deficiency, adult-onset
alternative label: Carnitine palmitoyltransferase II deficiency, myopathic
alternative label: CPT2 deficiency, late-onset
alternative label: CPT II deficiency, myopathic
mnemonic: CPT2D
comment: An autosomal recessive disorder of mitochondrial long-chain fatty acid oxidation, characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are exacerbated by prolonged exercise, fasting, cold, or viral infection. CPT2DM affects most frequently children or young adults, and severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death.

http://purl.uniprot.org/mim/255110
comment: phenotype
database: MIM

Carnitine-acylcarnitine translocase deficiency
type: Disease
alternative label: CACT deficiency
mnemonic: CACTD
comment: A rare long-chain fatty acid oxidation disorder. Metabolic consequences include hypoketotic hypoglycemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Clinical features include neurologic abnormalities, cardiomyopathy, arrhythmias, skeletal muscle damage, liver dysfunction and episodes of life-threatening coma, which eventually lead to death. Most patients become symptomatic in the neonatal period with a rapidly progressive deterioration and a high mortality rate.

http://purl.uniprot.org/mim/212138
comment: phenotype
database: MIM

Carpal tunnel syndrome 1
type: Disease
alternative label: CTS
alternative label: Median neuropathy carpal tunnel
alternative label: Thenar amyotrophy of crapal origin
mnemonic: CTS1
comment: A condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.

http://purl.uniprot.org/mim/115430
comment: phenotype
database: MIM

Carpal tunnel syndrome 2
type: Disease
mnemonic: CTS2
comment: An autosomal dominant form of carpal tunnel syndrome, a condition characterized by entrapment of the median nerve within the carpal tunnel. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. This condition may be associated with repetitive occupational trauma, wrist injuries, amyloid neuropathies, rheumatoid arthritis.

http://purl.uniprot.org/mim/619161
comment: phenotype
database: MIM

Carpenter syndrome 1
type: Disease
alternative label: ACPS2
alternative label: ACPS II
alternative label: Acrocephalopolysyndactyly 2
alternative label: Acrocephalopolysyndactyly type II
alternative label: Carpenter syndrome
mnemonic: CRPT1
comment: A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed.

http://purl.uniprot.org/mim/201000
comment: phenotype
database: MIM

Carpenter syndrome 2
type: Disease
mnemonic: CRPT2
comment: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.

http://purl.uniprot.org/mim/614976
comment: phenotype
database: MIM

Caspase-8 deficiency
type: Disease
mnemonic: CASP8D
comment: Disorder resembling autoimmune lymphoproliferative syndrome (ALPS). It is characterized by lymphadenopathy, splenomegaly, and defective CD95-induced apoptosis of peripheral blood lymphocytes (PBLs). It leads to defects in activation of T-lymphocytes, B-lymphocytes, and natural killer cells leading to immunodeficiency characterized by recurrent sinopulmonary and herpes simplex virus infections and poor responses to immunization.

http://purl.uniprot.org/mim/607271
comment: phenotype
database: MIM

Cataract 1, multiple types
type: Disease
alternative label: CAE1
alternative label: Cataract 1, multiple types, with or without microcornea
alternative label: Cataract Duffy-linked
alternative label: Cataract-microcornea syndrome
alternative label: Cataract zonular pulverulent 1
alternative label: CCMC
alternative label: CZNP
alternative label: CZP
alternative label: CZP1
alternative label: Pulverulent zonular cataract
alternative label: Zonular nuclear pulverulent cataract
mnemonic: CTRCT1
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

http://purl.uniprot.org/mim/116200
comment: phenotype
database: MIM

Cataract 10, multiple types
type: Disease
alternative label: Cataract, congenital, zonular with sutural opacities
alternative label: CCZS
mnemonic: CTRCT10
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

http://purl.uniprot.org/mim/600881
comment: phenotype
database: MIM

Cataract 11, multiple types
type: Disease
alternative label: Cataract 11 with microphthalmia and neurodevelopmental abnormalities
alternative label: Cataract posterior polar 4
alternative label: CPP4
alternative label: CTPP4
alternative label: Syndromic cataract 11
mnemonic: CTRCT11
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction.

http://purl.uniprot.org/mim/610623
comment: phenotype
database: MIM

Cataract 12, multiple types
type: Disease
mnemonic: CTRCT12
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset.

http://purl.uniprot.org/mim/611597
comment: phenotype
database: MIM

Cataract 13, with adult i phenotype
type: Disease
mnemonic: CTRCT13
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT13 is associated with the rare adult i phenotype, in which adult red blood cells are rich in i antigen and contain low levels of I antigen.

http://purl.uniprot.org/mim/116700
comment: phenotype
database: MIM

Cataract 14, multiple types
type: Disease
alternative label: CAE3
alternative label: CZP3
alternative label: Zonular pulverulent cataract 3
mnemonic: CTRCT14
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT14 includes zonular pulverulent cataract, among others. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

http://purl.uniprot.org/mim/601885
comment: phenotype
database: MIM

Cataract 15, multiple types
type: Disease
mnemonic: CTRCT15
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others.

http://purl.uniprot.org/mim/615274
comment: phenotype
database: MIM

Cataract 16, multiple types
type: Disease
alternative label: Congenital lamellar cataract
alternative label: CTPP2
alternative label: Posterior polar cataract 2
mnemonic: CTRCT16
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens.

http://purl.uniprot.org/mim/613763
comment: phenotype
database: MIM

Cataract 17, multiple types
type: Disease
alternative label: Autosomal recessive congenital nuclear cataract 3
alternative label: Cataract 17, multiple types, with or without microcornea
alternative label: CATCN3
mnemonic: CTRCT17
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens.

http://purl.uniprot.org/mim/611544
comment: phenotype
database: MIM

Cataract 18
type: Disease
alternative label: Autosomal recessive congenital cataract 2
alternative label: CATC2
mnemonic: CTRCT18
comment: An opacification of the crystalline lens of the eye becoming evident at birth or in infancy. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/610019
comment: phenotype
database: MIM

Cataract 2, multiple types
type: Disease
alternative label: Cataract 2, multiple types, with or without microcornea
alternative label: Cataract Coppock-like
alternative label: Cataract embryonic nuclear
alternative label: CCL
alternative label: Variable zonular pulverulent cataract
mnemonic: CTRCT2
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

http://purl.uniprot.org/mim/604307
comment: phenotype
database: MIM

Cataract 20, multiple types
type: Disease
mnemonic: CTRCT20
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical.

http://purl.uniprot.org/mim/116100
comment: phenotype
database: MIM

Cataract 21, multiple types
type: Disease
alternative label: Cataract, pulverulent or cerulean, with or without microcornea
alternative label: Cataract 21, multiple types, with or without microcornea
alternative label: Cataract pulverulent juvenile-onset
alternative label: CCA4
alternative label: Congenital cataract blue dot type 4
alternative label: Congenital cataract cerulean type 4
mnemonic: CTRCT21
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT21 includes cerulean and pulverulent cataracts. Cerulean cataracts are characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

http://purl.uniprot.org/mim/610202
comment: phenotype
database: MIM

Cataract 22, multiple types
type: Disease
alternative label: Autosomal recessive congenital nuclear cataract 2
alternative label: CATCN2
alternative label: Nuclear cataract 22
mnemonic: CTRCT22
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders.

http://purl.uniprot.org/mim/609741
comment: phenotype
database: MIM

Cataract 23, multiple types
type: Disease
alternative label: Isolated microphthalmia with cataract 4
alternative label: Lamellar cataract 23
alternative label: MCOPCT4
mnemonic: CTRCT23
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

http://purl.uniprot.org/mim/610425
comment: phenotype
database: MIM

Cataract 3, multiple types
type: Disease
alternative label: CCA2
alternative label: Congenital cataract blue dot type 2
alternative label: Congenital cataract cerulean type 2
alternative label: CSPC
alternative label: Sutural cataract with punctate and cerulean opacities
mnemonic: CTRCT3
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT3 includes congenital cerulean and sutural cataract with punctate and cerulean opacities, among others. Cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. Sutural cataract with punctate and cerulean opacities is characterized by white opacification around the anterior and posterior Y sutures, and grayish and bluish, spindle shaped, oval punctate and cerulean opacities of various sizes arranged in lamellar form. The spots are more concentrated towards the peripheral layers and do not delineate the embryonal or fetal nucleus. Phenotypic variation with respect to the size and density of the sutural opacities as well as the number and position of punctate and cerulean spots is observed among affected subjects.

http://purl.uniprot.org/mim/601547
comment: phenotype
database: MIM

Cataract 30, multiple types
type: Disease
alternative label: Pulverulent cataract 30
mnemonic: CTRCT30
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/116300
comment: phenotype
database: MIM

Cataract 31, multiple types
type: Disease
alternative label: CPP3
alternative label: CTPP3
alternative label: Posterior polar cataract 3
mnemonic: CTRCT31
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts.

http://purl.uniprot.org/mim/605387
comment: phenotype
database: MIM

Cataract 33, multiple types
type: Disease
alternative label: Cortical cataract 33
alternative label: Cortical juvenile-onset cataract
mnemonic: CTRCT33
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.

http://purl.uniprot.org/mim/611391
comment: phenotype
database: MIM

Cataract 34, multiple types
type: Disease
alternative label: Cataract, autosomal recessive congenital 3
alternative label: Cataract 34, multiple types, with or without microcornea
alternative label: CATC3
mnemonic: CTRCT34
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/612968
comment: phenotype
database: MIM

Cataract 36
type: Disease
alternative label: Autosomal recessive congenital cataract 4
alternative label: CATC4
mnemonic: CTRCT36
comment: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/613887
comment: phenotype
database: MIM

Cataract 38
type: Disease
alternative label: Autosomal recessive congenital cataract 5
alternative label: CATC5
mnemonic: CTRCT38
comment: An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/614691
comment: phenotype
database: MIM

Cataract 39, multiple types
type: Disease
mnemonic: CTRCT39
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT39 includes lamellar, anterior polar, and complete cataracts.

http://purl.uniprot.org/mim/615188
comment: phenotype
database: MIM

Cataract 4, multiple types
type: Disease
alternative label: Aculeiform cataract
alternative label: CACA
alternative label: Cataract 4, multiple types, with or without microcornea
alternative label: CCA3
alternative label: CCP
alternative label: Congenital cataract blue dot type 3
alternative label: Congenital cataract cerulean type 3
alternative label: Congenital non-nuclear polymorphic cataract
alternative label: Crystalline aculeiform cataract
alternative label: PCC
alternative label: Punctate, progressive juvenile-onset, cataract
mnemonic: CTRCT4
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non-nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract.

http://purl.uniprot.org/mim/115700
comment: phenotype
database: MIM

Cataract 40
type: Disease
alternative label: Cataract 40 with or without microcornea
alternative label: CCT
alternative label: Congenital total cataract with posterior sutural opacities in heterozygotes
alternative label: X-linked congenital cataract
mnemonic: CTRCT40
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

http://purl.uniprot.org/mim/302200
comment: phenotype
database: MIM

Cataract 41
type: Disease
alternative label: Congenital nuclear cataract 41
mnemonic: CTRCT41
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive.

http://purl.uniprot.org/mim/116400
comment: phenotype
database: MIM

Cataract 42
type: Disease
mnemonic: CTRCT42
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/115900
comment: phenotype
database: MIM

Cataract 43
type: Disease
mnemonic: CTRCT43
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/616279
comment: phenotype
database: MIM

Cataract 44
type: Disease
alternative label: Cataract and hypotrichosis
mnemonic: CTRCT44
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/616509
comment: phenotype
database: MIM

Cataract 45
type: Disease
mnemonic: CTRCT45
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/616851
comment: phenotype
database: MIM

Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy
type: Disease
alternative label: Cataract, juvenile, Hutterite type
alternative label: Cataract Hutterite type
mnemonic: CTRCT46
comment: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death.

http://purl.uniprot.org/mim/212500
comment: phenotype
database: MIM

Cataract 47
type: Disease
alternative label: Cataract, juvenile, with microcornea
alternative label: Cataract, juvenile, with microcornea and glucosuria
alternative label: Cataract 47, juvenile, with microcornea
alternative label: CJMG
mnemonic: CTRCT47
comment: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.

http://purl.uniprot.org/mim/612018
comment: phenotype
database: MIM

Cataract 48
type: Disease
mnemonic: CTRCT48
comment: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset.

http://purl.uniprot.org/mim/618415
comment: phenotype
database: MIM

Cataract 49
type: Disease
alternative label: Cataract 49, posterior
mnemonic: CTRCT49
comment: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT49 is an autosomal dominant form characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood.

http://purl.uniprot.org/mim/619593
comment: phenotype
database: MIM

Cataract 5, multiple types
type: Disease
alternative label: CAM
alternative label: Cataract Marner type
alternative label: CTM
mnemonic: CTRCT5
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT5 includes infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type cataracts, among others. Finger malformation is observed in some kindreds.

http://purl.uniprot.org/mim/116800
comment: phenotype
database: MIM

Cataract 6, multiple types
type: Disease
alternative label: Age-related cortical cataract 2
alternative label: ARCC2
alternative label: Cataract posterior polar 1
alternative label: CTPA
alternative label: CTPP
alternative label: CTPP1
mnemonic: CTRCT6
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision.

http://purl.uniprot.org/mim/116600
comment: phenotype
database: MIM

Cataract 9, multiple types
type: Disease
alternative label: Autosomal dominant congenital cataract
alternative label: Autosomal recessive congenital cataract 1
alternative label: Cataract 9, multiple types, with or without microcornea
alternative label: Cataract autosomal dominant
alternative label: CATC1
mnemonic: CTRCT9
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT9 includes nuclear, zonular central nuclear, anterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total cataracts, among others. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

http://purl.uniprot.org/mim/604219
comment: phenotype
database: MIM

Cataract, multiple types 19
type: Disease
mnemonic: CTRCT19
comment: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.

http://purl.uniprot.org/mim/615277
comment: phenotype
database: MIM

Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
type: Disease
mnemonic: CAGSSS
comment: An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.

http://purl.uniprot.org/mim/616007
comment: phenotype
database: MIM

Cataracts, spastic paraparesis, and speech delay
type: Disease
mnemonic: CSPSD
comment: An autosomal dominant disease characterized by bilateral cataracts apparent at birth or in infancy, spastic paraparesis, truncal hypotonia, delayed psychomotor development, and speech delay.

http://purl.uniprot.org/mim/619338
comment: phenotype
database: MIM

Catel-Manzke syndrome
type: Disease
alternative label: Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome
alternative label: Index finger anomaly with Pierre Robin syndrome
alternative label: Micrognathia digital syndrome
alternative label: Palatodigital syndrome, Catel-Manzke type
alternative label: Pierre Robin syndrome with hyperphalangy and clinodactyly
mnemonic: CATMANS
comment: A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia).

http://purl.uniprot.org/mim/616145
comment: phenotype
database: MIM

CATIFA syndrome
type: Disease
alternative label: Cleft lip, cataract, tooth abnormality, intellectual disability, facial dysmorphism, attention-deficit hyperactivity disorder
mnemonic: CATIFA
comment: An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention-deficit hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking.

http://purl.uniprot.org/mim/618761
comment: phenotype
database: MIM

Caudal duplication anomaly
type: Disease
mnemonic: CADUA
comment: A condition characterized by the occurrence of duplications of different organs in the caudal region.

http://purl.uniprot.org/mim/607864
comment: phenotype
database: MIM

Cavitary optic disc anomalies
type: Disease
mnemonic: CODA
comment: An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.

http://purl.uniprot.org/mim/611543
comment: phenotype
database: MIM

CD8 deficiency, familial
type: Disease
mnemonic: CD8 deficiency
comment: An immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections.

http://purl.uniprot.org/mim/608957
comment: phenotype
database: MIM

CEBALID syndrome
type: Disease
alternative label: Craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development
alternative label: MCTT
alternative label: MN1 C-terminal truncation syndrome
mnemonic: CEBALID
comment: An autosomal dominant developmental disorder characterized by global developmental delay, intellectual disability with severe expressive language delay, craniofacial dysmorphism, and structural brain abnormalities. Most patients have an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres. Other frequent features include perisylvian polymicrogyria, abnormal posterior clinoid processes, cerebellar hypoplasia or dysplasia, and persistent trigeminal artery.

http://purl.uniprot.org/mim/618774
comment: phenotype
database: MIM

Celiac disease 13
type: Disease
alternative label: Gluten-sensitive enteropathy 13
mnemonic: CELIAC13
comment: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.

http://purl.uniprot.org/mim/612011
comment: phenotype
database: MIM

Celiac disease 3
type: Disease
alternative label: Gluten-sensitive enteropathy 3
mnemonic: CELIAC3
comment: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.

http://purl.uniprot.org/mim/609755
comment: phenotype
database: MIM

Celiac disease 4
type: Disease
alternative label: Gluten-sensitive enteropathy 4
mnemonic: CELIAC4
comment: A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes.

http://purl.uniprot.org/mim/609753
comment: phenotype
database: MIM

Cenani-Lenz syndactyly syndrome
type: Disease
alternative label: Cenani-Lenz syndactyly
alternative label: Cenani-Lenz syndrome
alternative label: Cenani syndactylism
alternative label: Syndactyly type 7
alternative label: Syndactyly type VII
mnemonic: CLSS
comment: A congenital malformation syndrome defined as complete and complex syndactyly of the hands combined with malformations of the forearm bones and similar manifestations in the lower limbs. It is characterized by fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet.

http://purl.uniprot.org/mim/212780
comment: phenotype
database: MIM

Central core disease of muscle
type: Disease
mnemonic: CCD
comment: Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques.

http://purl.uniprot.org/mim/117000
comment: phenotype
database: MIM

Central hypoventilation syndrome, congenital, 1
type: Disease
alternative label: CCHS
alternative label: Central hypoventilation syndrome, congenital
alternative label: Congenital failure of autonomic control
alternative label: Ondine curse
mnemonic: CCHS1
comment: An autosomal dominant form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.

http://purl.uniprot.org/mim/209880
comment: phenotype
database: MIM

Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
type: Disease
mnemonic: CCHS2
comment: An autosomal recessive form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS2 is characterized by shallow breathing and apneic spells apparent in the neonatal period. Some patients have other features of autonomic dysfunction, including bladder dysfunction, sinus bradycardia, and temperature dysregulation.

http://purl.uniprot.org/mim/619482
comment: phenotype
database: MIM

Central hypoventilation syndrome, congenital, 3
type: Disease
mnemonic: CCHS3
comment: A form of congenital central hypoventilation syndrome, a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. CCHS3 is an autosomal recessive, neonatal form characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Affected individuals present with respiratory insufficiency and absence of the hypercapnic reflex that stimulates breathing. Additional features include gastrointestinal problems, poor heat tolerance and paroxysmal hypertension.

http://purl.uniprot.org/mim/619483
comment: phenotype
database: MIM

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
type: Disease
alternative label: CAPOS syndrome
mnemonic: CAPOS
comment: An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies.

http://purl.uniprot.org/mim/601338
comment: phenotype
database: MIM

Cerebellar ataxia, brain abnormalities, and cardiac conduction defects
type: Disease
mnemonic: CABAC
comment: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development and speech delay that are observed in most patients. Disease manifestations are variable and include infantile-onset hypotonia, poor motor development, poor feeding and overall growth, and ataxic gait due to cerebellar ataxia. Additional variable features are dysarthria, nystagmus, variable ocular anomalies, spasticity, hyperreflexia, and non-specific dysmorphic features. Brain imaging shows cerebellar hypoplasia, often with brainstem hypoplasia, enlarged ventricles, delayed myelination, and thin corpus callosum. A significant number of patients develop cardiac conduction defects in childhood or adolescence.

http://purl.uniprot.org/mim/619576
comment: phenotype
database: MIM

Cerebellar ataxia, cayman type
type: Disease
mnemonic: ATCAY
comment: Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood.

http://purl.uniprot.org/mim/601238
comment: phenotype
database: MIM

Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
type: Disease
mnemonic: ADCADN
comment: An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression.

http://purl.uniprot.org/mim/604121
comment: phenotype
database: MIM

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
type: Disease
alternative label: Cerebellar hypoplasia VLDLR-associated
alternative label: DES
alternative label: Dysequilibrium syndrome
mnemonic: CAMRQ1
comment: An autosomal recessive, congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, intellectual disability, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.

http://purl.uniprot.org/mim/224050
comment: phenotype
database: MIM

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
type: Disease
mnemonic: CAMRQ2
comment: An autosomal recessive, congenital cerebellar ataxia associated with cerebellar hypoplasia, intellectual disability, and inability to walk bipedally, resulting in quadrupedal locomotion as a functional adaptation. Additional findings include generalized brain atrophy and mild hypoplasia of the corpus callosum.

http://purl.uniprot.org/mim/610185
comment: phenotype
database: MIM

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3
type: Disease
mnemonic: CAMRQ3
comment: An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability.

http://purl.uniprot.org/mim/613227
comment: phenotype
database: MIM

Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
type: Disease
mnemonic: CAMRQ4
comment: An autosomal recessive, congenital cerebellar ataxia associated with dysarthia, quadrupedal gait and intellectual disability.

http://purl.uniprot.org/mim/615268
comment: phenotype
database: MIM

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
type: Disease
mnemonic: CANVAS
comment: An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit.

http://purl.uniprot.org/mim/614575
comment: phenotype
database: MIM

Cerebellar atrophy with seizures and variable developmental delay
type: Disease
mnemonic: CASVDD
comment: An autosomal recessive neurologic disorder characterized by cerebellar ataxia, atrophy of the cerebellar vermis, severe refractory seizures with early onset, and global developmental delay compatible with epileptic encephalopathy in most patients. Disease severity is variable and normal cognitive development has also been reported.

http://purl.uniprot.org/mim/618501
comment: phenotype
database: MIM

Cerebellar atrophy, developmental delay, and seizures
type: Disease
mnemonic: CADEDS
comment: An autosomal recessive disease characterized by epilepsy, developmental delay and severe cerebellar atrophy.

http://purl.uniprot.org/mim/617643
comment: phenotype
database: MIM

Cerebellar atrophy, visual impairment, and psychomotor retardation
type: Disease
mnemonic: CAVIPMR
comment: An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features.

http://purl.uniprot.org/mim/616875
comment: phenotype
database: MIM

Cerebellar dysfunction with variable cognitive and behavioral abnormalities
type: Disease
alternative label: CANPMR
mnemonic: CECBA
comment: An autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable.

http://purl.uniprot.org/mim/614756
comment: phenotype
database: MIM

Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
type: Disease
mnemonic: CDIDHH
comment: An autosomal recessive disorder characterized by delayed motor development, ataxia with cerebellar hypoplasia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed puberty with congenital hypogonadotropic hypogonadism.

http://purl.uniprot.org/mim/619761
comment: phenotype
database: MIM

Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
type: Disease
mnemonic: CHEGDD
comment: An autosomal recessive neurodevelopmental disorder characterized by infantile onset of hypotonia, global developmental delay, delayed walking, and severely impaired intellectual development with profound speech delay. Patients manifest cerebellar atrophy and childhood-onset epilepsy.

http://purl.uniprot.org/mim/213000
comment: phenotype
database: MIM

Cerebellar, ocular, craniofacial, and genital syndrome
type: Disease
mnemonic: COFG
comment: An autosomal recessive syndrome characterized by moderate to severe developmental delay, intellectual disability, cerebellar hypoplasia with ataxia, variable microcephaly, ophthalmological anomalies, facial dysmorphism, absent or underdeveloped nipples, underdeveloped labioscrotal folds and scrotal agenesis.

http://purl.uniprot.org/mim/618479
comment: phenotype
database: MIM

Cerebellofaciodental syndrome
type: Disease
alternative label: Cerebellar-facial-dental syndrome
mnemonic: CFDS
comment: An autosomal recessive disorder characterized by cerebellar hypoplasia, delayed development and intellectual disability, as well as facial dysmorphic features, short stature, microcephaly, and dental anomalies.

http://purl.uniprot.org/mim/616202
comment: phenotype
database: MIM

Cerebral amyloid angiopathy, APP-related
type: Disease
alternative label: Amyloidosis cerebroarterial APP-related
alternative label: Amyloidosis hereditary with cerebral hemorrhage Dutch variant
alternative label: Cerebral amyloid angiopathy APP-related Arctic variant
alternative label: Cerebral amyloid angiopathy APP-related Dutch variant
alternative label: Cerebral amyloid angiopathy APP-related Flemish variant
alternative label: Cerebral amyloid angiopathy APP-related Iowa variant
alternative label: Cerebral amyloid angiopathy APP-related Italian variant
alternative label: Familial occipital calcifications with hemorrhagic strokes leukoencephalopathy arterial dysplasia dementia
alternative label: FOCHS-LADD
alternative label: HCHWAD
alternative label: HCHWA-D
alternative label: Hereditary cerebral amyloid angiopathy Dutch type
alternative label: Hereditary cerebral hemorrhage with amyloidosis Dutch type
alternative label: Hereditary cerebral hemorrhage with amyloidosis Italian type
mnemonic: CAA-APP
comment: A hereditary localized amyloidosis due to amyloid-beta A4 peptide(s) deposition in the cerebral vessels. The principal clinical characteristics are recurrent cerebral and cerebellar hemorrhages, recurrent strokes, cerebral ischemia, cerebral infarction, and progressive mental deterioration. Patients develop cerebral hemorrhage because of the severe cerebral amyloid angiopathy. Parenchymal amyloid deposits are rare and largely in the form of pre-amyloid lesions or diffuse plaque-like structures. They are Congo red negative and lack the dense amyloid cores commonly present in Alzheimer disease. Some affected individuals manifest progressive aphasic dementia, leukoencephalopathy, and occipital calcifications.

http://purl.uniprot.org/mim/605714
comment: phenotype
database: MIM

Cerebral amyloid angiopathy, ITM2B-related 1
type: Disease
alternative label: Cerebral amyloid angiopathy British type
alternative label: Familial British dementia
alternative label: FBD
alternative label: Presenile dementia with spastic ataxia
mnemonic: CAA-ITM2B1
comment: A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity.

http://purl.uniprot.org/mim/176500
comment: phenotype
database: MIM

Cerebral amyloid angiopathy, ITM2B-related 2
type: Disease
alternative label: Cerebellar ataxia cataract deafness and dementia or psychosis
alternative label: Familial Danish dementia
alternative label: FDD
alternative label: Heredopathia ophthalmootoencephalica
alternative label: HOOE
mnemonic: CAA-ITM2B2
comment: A disorder characterized by amyloid deposition in the walls of the blood vessels of the cerebrum, choroid plexus, cerebellum, spinal cord and retina. Plaques and neurofibrillary tangles are observed in the hippocampus. Clinical features include progressive ataxia, dementia, cataracts and deafness.

http://purl.uniprot.org/mim/117300
comment: phenotype
database: MIM

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1
type: Disease
alternative label: CADASIL
alternative label: CASIL
alternative label: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant
alternative label: Dementia hereditary multiinfarct type
alternative label: Dementia hereditary multi-infarct type
mnemonic: CADASIL1
comment: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

http://purl.uniprot.org/mim/125310
comment: phenotype
database: MIM

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2
type: Disease
alternative label: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
alternative label: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant, 2
mnemonic: CADASIL2
comment: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

http://purl.uniprot.org/mim/616779
comment: phenotype
database: MIM

Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy
type: Disease
alternative label: CARASIL syndrome
alternative label: Cerebrovascular disease with thin skin, alopecia, and disk disease
alternative label: Maeda syndrome
alternative label: Progressive subcortical vascular encephalopathy
alternative label: Subcortical vascular encephalopathy, progressive
mnemonic: CARASIL
comment: A cerebrovascular disease characterized by non-hypertensive arteriopathy of cerebral small vessels with subcortical infarcts, alopecia, and spondylosis. Small cerebral arteries show arteriosclerotic changes, fibrous intimal proliferation, and hyaline degeneration with splitting of the intima and/or the internal elastic membrane. Neurologic features include progressive dementia, gait disturbances, extrapyramidal and pyramidal signs, and demyelination of the cerebral white matter with sparing of U fibers.

http://purl.uniprot.org/mim/600142
comment: phenotype
database: MIM

Cerebral cavernous malformations 1
type: Disease
alternative label: Cavernous angiomatous malformations
alternative label: Cavernous hemangioma of the brain
alternative label: Cerebral capillary malformations
alternative label: Cerebral cavernoma
alternative label: Familial cavernous angioma
mnemonic: CCM1
comment: A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/116860
comment: phenotype
database: MIM

Cerebral cavernous malformations 2
type: Disease
alternative label: Cavernous angiomatous malformations
alternative label: Cavernous hemangioma of the brain
alternative label: Cerebral capillary malformations
alternative label: Cerebral cavernoma
alternative label: Familial cavernous angioma
mnemonic: CCM2
comment: A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM2 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/603284
comment: phenotype
database: MIM

Cerebral cavernous malformations 3
type: Disease
alternative label: Cavernous angiomatous malformations
alternative label: Cavernous hemangioma of the brain
alternative label: Cerebral capillary malformations
alternative label: Cerebral cavernoma
alternative label: Familial cavernous angioma
mnemonic: CCM3
comment: A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM3 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/603285
comment: phenotype
database: MIM

Cerebral cavernous malformations 4
type: Disease
mnemonic: CCM4
comment: A form of cerebral cavernous malformations, a congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. CCM4 cases occur sporadically.

http://purl.uniprot.org/mim/619538
comment: phenotype
database: MIM

Cerebral creatine deficiency syndrome 1
type: Disease
alternative label: Creatine transporter defect
alternative label: X-linked creatine deficiency syndrome
mnemonic: CCDS1
comment: An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment.

http://purl.uniprot.org/mim/300352
comment: phenotype
database: MIM

Cerebral creatine deficiency syndrome 2
type: Disease
alternative label: Creatine deficiency syndrome due to GAMT deficiency
alternative label: GAMT deficiency
alternative label: Guanidinoacetate methyltransferase deficiency
mnemonic: CCDS2
comment: An autosomal recessive disorder characterized by developmental delay and regression, intellectual disability, severe disturbance of expressive and cognitive speech, intractable seizures, movement disturbances, severe depletion of creatine and phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.

http://purl.uniprot.org/mim/612736
comment: phenotype
database: MIM

Cerebral creatine deficiency syndrome 3
type: Disease
alternative label: AGAT deficiency
alternative label: Arginine:glycine amidinotransferase deficiency
alternative label: Creatine deficiency syndrome due to AGAT deficiency
alternative label: GATM deficiency
mnemonic: CCDS3
comment: An autosomal recessive disorder characterized by developmental delay/regression, intellectual disability, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Most patients develop a myopathy characterized by muscle weakness and atrophy later in life.

http://purl.uniprot.org/mim/612718
comment: phenotype
database: MIM

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
type: Disease
alternative label: CEDNIK syndrome
mnemonic: CEDNIK
comment: A neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma.

http://purl.uniprot.org/mim/609528
comment: phenotype
database: MIM

Cerebral palsy, spastic quadriplegic 1
type: Disease
alternative label: Autosomal recessive symmetric spastic cerebral palsy 1
mnemonic: CPSQ1
comment: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, intellectual disability and sometimes epilepsy can be part of the clinical picture.

http://purl.uniprot.org/mim/603513
comment: phenotype
database: MIM

Cerebral palsy, spastic quadriplegic 2
type: Disease
mnemonic: CPSQ2
comment: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest congenital hypotonia evolving over the first year to spastic quadriplegia with accompanying transient nystagmus and varying degrees of intellectual disability. Neuroimaging shows brain atrophy and ventriculomegaly.

http://purl.uniprot.org/mim/612900
comment: phenotype
database: MIM

Cerebral palsy, spastic quadriplegic 3
type: Disease
mnemonic: CPSQ3
comment: A form of cerebral palsy, a group of non-progressive disorders of movement and/or posture resulting from defects in the developing central nervous system. CPSQ3 is an autosomal recessive neurodevelopmental disorder characterized by variable spasticity and cognitive impairment.

http://purl.uniprot.org/mim/617008
comment: phenotype
database: MIM

Cerebro-oculo-facio-skeletal syndrome 1
type: Disease
alternative label: COFS syndrome
alternative label: Pena-Shokeir syndrome type 2
mnemonic: COFS1
comment: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

http://purl.uniprot.org/mim/214150
comment: phenotype
database: MIM

Cerebro-oculo-facio-skeletal syndrome 2
type: Disease
alternative label: COFS syndrome
mnemonic: COFS2
comment: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

http://purl.uniprot.org/mim/610756
comment: phenotype
database: MIM

Cerebro-oculo-facio-skeletal syndrome 3
type: Disease
mnemonic: COFS3
comment: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

http://purl.uniprot.org/mim/616570
comment: phenotype
database: MIM

Cerebro-oculo-facio-skeletal syndrome 4
type: Disease
alternative label: COFS syndrome
mnemonic: COFS4
comment: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

http://purl.uniprot.org/mim/610758
comment: phenotype
database: MIM

Cerebrocostomandibular syndrome
type: Disease
alternative label: CCM syndrome
alternative label: Cerebro-costo-mandibular syndrome
alternative label: Rib gap defects with micrognathia
mnemonic: CCMS
comment: A syndrome characterized by severe micrognathia, rib defects ranging from a few dorsal rib segments to complete absence of ossification, and intellectual disability.

http://purl.uniprot.org/mim/117650
comment: phenotype
database: MIM

Cerebroretinal microangiopathy with calcifications and cysts 1
type: Disease
alternative label: Coats plus syndrome
mnemonic: CRMCC1
comment: An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia.

http://purl.uniprot.org/mim/612199
comment: phenotype
database: MIM

Cerebroretinal microangiopathy with calcifications and cysts 2
type: Disease
mnemonic: CRMCC2
comment: An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients.

http://purl.uniprot.org/mim/617341
comment: phenotype
database: MIM

Cerebrotendinous xanthomatosis
type: Disease
alternative label: Cerebral cholesterinosis
mnemonic: CTX
comment: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

http://purl.uniprot.org/mim/213700
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 1
type: Disease
alternative label: Hagberg-Santavuori disease
alternative label: INCL
alternative label: Infantile neuronal ceroid lipofuscinosis
alternative label: Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
alternative label: Neuronal ceroid lipofuscinosis with variable age at onset
alternative label: Santavuori disease
alternative label: Santavuori-Haltia disease
mnemonic: CLN1
comment: A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD).

http://purl.uniprot.org/mim/256730
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 10
type: Disease
alternative label: Congenital neuronal ceroid lipofuscinosis
alternative label: Neuronal ceroid lipofuscinosis cathepsin d-deficient
alternative label: Neuronal ceroid lipofuscinosis due to cathepsin D deficiency
mnemonic: CLN10
comment: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy.

http://purl.uniprot.org/mim/610127
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 11
type: Disease
mnemonic: CLN11
comment: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.

http://purl.uniprot.org/mim/614706
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 13 (Kufs type)
type: Disease
alternative label: Neuronal ceroid lipofuscinosis 13 Kufs type
mnemonic: CLN13
comment: A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/615362
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 2
type: Disease
alternative label: Jansky-Bielschowsky disease
alternative label: Late-infantile neuronal ceroid lipofuscinosis
alternative label: LINCL
alternative label: Neuronal ceroid lipofuscinosis 2 with variable age at onset
mnemonic: CLN2
comment: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles.

http://purl.uniprot.org/mim/204500
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 3
type: Disease
alternative label: Batten disease
alternative label: JNCL
alternative label: Juvenile neuronal ceroid lipofuscinosis
alternative label: Spielmeyer-Sjogren disease
alternative label: Vogt-Spielmeyer disease
mnemonic: CLN3
comment: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3.

http://purl.uniprot.org/mim/204200
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive
type: Disease
alternative label: Adult neuronal ceroid lipofuscinosis
alternative label: CLN6 disease Kufs type A
alternative label: Kufs disease
alternative label: Kufs disease autosomal recessive
mnemonic: CLN4A
comment: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.

http://purl.uniprot.org/mim/204300
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant
type: Disease
alternative label: Kufs disease autosomal dominant
alternative label: Neuronal ceroid lipofuscinosis Parry type
mnemonic: CLN4B
comment: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms.

http://purl.uniprot.org/mim/162350
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 5
type: Disease
alternative label: Finnish
alternative label: Finnish variant late infantile neuronal ceroid lipofuscinosis
alternative label: Neuronal ceroid lipofuscinosis 5 with variable age at onset
alternative label: vLINCL
mnemonic: CLN5
comment: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

http://purl.uniprot.org/mim/256731
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 6
type: Disease
alternative label: Neuronal ceroid lipofuscinosis 6 with variable age at onset
alternative label: Variant late-onset infantile neuronal ceroid lipofuscinosis
alternative label: vLINCL
mnemonic: CLN6
comment: An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

http://purl.uniprot.org/mim/601780
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 7
type: Disease
alternative label: Turkish variant late infantile NCL
mnemonic: CLN7
comment: A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles.

http://purl.uniprot.org/mim/610951
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 8
type: Disease
alternative label: Turkish variant late infantile NCL
mnemonic: CLN8
comment: A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.

http://purl.uniprot.org/mim/600143
comment: phenotype
database: MIM

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
type: Disease
alternative label: EPMR
mnemonic: CLN8NE
comment: A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive intellectual disability. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.

http://purl.uniprot.org/mim/610003
comment: phenotype
database: MIM

Cervical cancer
type: Disease
alternative label: Cervix cancer
alternative label: Uterine cervical cancer
mnemonic: CERCA
comment: A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus.

http://purl.uniprot.org/mim/603956
comment: phenotype
database: MIM

CFHR5 deficiency
type: Disease
alternative label: Nephropathy due to CFHR5 deficiency
mnemonic: CFHR5D
comment: A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections.

http://purl.uniprot.org/mim/614809
comment: phenotype
database: MIM

Chanarin-Dorfman syndrome
type: Disease
alternative label: DCS
alternative label: Dorfman-Chanarin syndrome
alternative label: Ichthyosiform erythroderma with leukocyte vacuolation
alternative label: Ichthyotic neutral lipid storage disease
alternative label: Neutral lipid storage disease with ichthyosis
alternative label: Triglyceride storage disease with impaired long-chain fatty acid oxidation
mnemonic: CDS
comment: An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.

http://purl.uniprot.org/mim/275630
comment: phenotype
database: MIM

CHAND syndrome
type: Disease
alternative label: Curly hair, ankyloblepharon, nail dysplasia syndrome
mnemonic: CHANDS
comment: An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula.

http://purl.uniprot.org/mim/214350
comment: phenotype
database: MIM

Char syndrome
type: Disease
mnemonic: CHAR
comment: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

http://purl.uniprot.org/mim/169100
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4A
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive, type 4A
alternative label: Charcot-Marie-Tooth disease neuropathy type 4A
mnemonic: CMT4A
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4A is a severe form characterized by early age of onset and rapid progression leading to inability to walk in late childhood or adolescence.

http://purl.uniprot.org/mim/214400
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4B1
type: Disease
alternative label: Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B1
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B1
alternative label: Charcot-Marie-Tooth disease type 4B
alternative label: Charcot-Marie-Tooth neuropathy type 4B1
alternative label: CMT4B
mnemonic: CMT4B1
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

http://purl.uniprot.org/mim/601382
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4B2
type: Disease
alternative label: Charcot-Marie-Tooth disease autosomal recessive with focally folded myelin sheaths 4B2
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive 4B2
alternative label: Charcot-Marie-Tooth neuropathy type 4B2
mnemonic: CMT4B2
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

http://purl.uniprot.org/mim/604563
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4B3
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy type 4B3
mnemonic: CMT4B3
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

http://purl.uniprot.org/mim/615284
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4C
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive 4C
alternative label: Charcot-Marie-Tooth neuropathy type 4C
mnemonic: CMT4C
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4C is characterized by onset in childhood, early-onset scoliosis and a distinct Schwann cell pathology.

http://purl.uniprot.org/mim/601596
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4D
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive 4D
alternative label: Charcot-Marie-Tooth neuropathy type 4D
alternative label: Hereditary motor and sensory neuropathy IVD
alternative label: Hereditary motor and sensory neuropathy Lom type
alternative label: HMSN4D
alternative label: HMSN IVD
alternative label: HMSNL
mnemonic: CMT4D
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

http://purl.uniprot.org/mim/601455
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4F
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive 4F
alternative label: Charcot-Marie-Tooth neuropathy type 4F
mnemonic: CMT4F
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome.

http://purl.uniprot.org/mim/614895
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4H
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating autosomal recessive 4H
alternative label: Charcot-Marie-Tooth neuropathy type 4H
mnemonic: CMT4H
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

http://purl.uniprot.org/mim/609311
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4J
type: Disease
mnemonic: CMT4J
comment: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.

http://purl.uniprot.org/mim/611228
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease 4K
type: Disease
alternative label: Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K
alternative label: Charcot-Marie-Tooth disease, demyelinating, type 4K
alternative label: Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K
alternative label: Charcot-Marie-Tooth neuropathy, type 4K
mnemonic: CMT4K
comment: An autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia.

http://purl.uniprot.org/mim/616684
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2A1
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2A1
alternative label: Charcot-Marie-Tooth disease neuronal type 2A1
alternative label: Charcot-Marie-Tooth neuropathy type 2A1
alternative label: Hereditary motor and sensory neuropathy IIA1
alternative label: HMSN2A1
alternative label: HMSN IIA1
mnemonic: CMT2A1
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/118210
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2A2A
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2A2
alternative label: Charcot-Marie-Tooth disease neuronal type 2A2
alternative label: Charcot-Marie-Tooth neuropathy type 2A2
alternative label: CMT2A2
alternative label: Hereditary motor and sensory neuropathy IIA2
alternative label: HMSN2A2
alternative label: HMSN IIA2
mnemonic: CMT2A2A
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/609260
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2A2B
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
alternative label: Charcot-Marie-Tooth disease, axonal, type 2A2B
mnemonic: CMT2A2B
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2A2B is a severe form with autosomal recessive inheritance.

http://purl.uniprot.org/mim/617087
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2B
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2B
alternative label: Charcot-Marie-Tooth disease neuronal type 2B
alternative label: Charcot-Marie-Tooth neuropathy type 2B
alternative label: Hereditary motor and sensory neuropathy IIB
alternative label: HMSN2B
alternative label: HMSN IIB
alternative label: Peripheral sensory neuropathy autosomal dominant
alternative label: PSN
mnemonic: CMT2B
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/600882
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2B1
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal recessive B1
alternative label: Charcot-Marie-Tooth disease axonal type 2B1
alternative label: Charcot-Marie-Tooth disease neuronal type 2B1
alternative label: Charcot-Marie-Tooth neuropathy type 2B1
mnemonic: CMT2B1
comment: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/605588
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2B2
type: Disease
alternative label: ARCMT2B
alternative label: Charcot-Marie-Tooth disease axonal autosomal recessive B2
alternative label: Charcot-Marie-Tooth disease axonal type 2B2
alternative label: Charcot-Marie-Tooth disease neuronal type 2B2
alternative label: Charcot-Marie-Tooth neuropathy type 2B2
mnemonic: CMT2B2
comment: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/605589
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2C
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal dominant 2C
alternative label: Charcot-Marie-Tooth disease axonal type 2C
alternative label: Charcot-Marie-Tooth neuropathy type 2C
alternative label: Hereditary motor and sensory neuropathy type IIC
alternative label: HMSN2C
alternative label: HMSN IIC
mnemonic: CMT2C
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/606071
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2CC
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, type 2CC
alternative label: Charcot-Marie-Tooth neuropathy, type 2CC
mnemonic: CMT2CC
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/616924
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2D
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2D
alternative label: Charcot-Marie-Tooth disease neuronal type 2D
alternative label: Charcot-Marie-Tooth neuropathy type 2D
mnemonic: CMT2D
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/601472
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2DD
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, type 2DD
alternative label: Charcot-Marie-Tooth neuropathy, type 2DD
mnemonic: CMT2DD
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/618036
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2E
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2E
alternative label: Charcot-Marie-Tooth disease neuronal type 2E
alternative label: Charcot-Marie-Tooth neuropathy type 2E
mnemonic: CMT2E
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/607684
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2EE
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, type 2EE
alternative label: Charcot-Marie-Tooth neuropathy, type 2EE
mnemonic: CMT2EE
comment: A recessive axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2EE is a slowly progressive, sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs, sometimes resulting in loss of ambulation, with later onset of upper limb involvement.

http://purl.uniprot.org/mim/618400
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2F
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2F
alternative label: Charcot-Marie-Tooth disease neuronal type 2F
alternative label: Charcot-Marie-Tooth neuropathy type 2F
mnemonic: CMT2F
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Onset of Charcot-Marie-Tooth disease type 2F is between 15 and 25 years with muscle weakness and atrophy usually beginning in feet and legs (peroneal distribution). Upper limb involvement occurs later.

http://purl.uniprot.org/mim/606595
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2FF
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, type 2FF
alternative label: Charcot-Marie-Tooth neuropathy, type 2FF
mnemonic: CMT2FF
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2FF is characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Some patients lose independent ambulation. There is also prominent involvement of the upper limbs.

http://purl.uniprot.org/mim/619519
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2HH
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, type 2HH
alternative label: Charcot-Marie-Tooth neuropathy, type 2HH
mnemonic: CMT2HH
comment: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2HH is characterized by vocal fold paresis that remains throughout life and may be severe. Additional features include pes cavus, scoliosis, distal sensory impairment with hyporeflexia, mild distal muscle weakness and atrophy primarily affecting the lower limbs, although the upper limbs may also be involved.

http://purl.uniprot.org/mim/619574
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2I
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2I
alternative label: Charcot-Marie-Tooth disease neuronal type 2I
alternative label: Charcot-Marie-Tooth neuropathy type 2I
mnemonic: CMT2I
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/607677
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2II
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, type 2II
alternative label: Charcot-Marie-Tooth neuropathy, type 2II
mnemonic: CMT2II
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/620068
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2J
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2J
alternative label: Charcot-Marie-Tooth disease neuronal type 2J
alternative label: Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities
alternative label: Charcot-Marie-Tooth neuropathy type 2J
mnemonic: CMT2J
comment: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2J is characterized by the association of axonal peripheral neuropathy with hearing loss and pupillary abnormalities such as Adie pupil.

http://purl.uniprot.org/mim/607736
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2K
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal type 2K
alternative label: Charcot-Marie-Tooth disease neuronal type 2K
alternative label: Charcot-Marie-Tooth neuropathy type 2K
mnemonic: CMT2K
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Charcot-Marie-Tooth disease type 2K onset is in early childhood (younger than 3 years). This phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. Weakness in the upper limbs is observed in the first decade, with clawing of the fingers. Inheritance can be autosomal dominant or recessive.

http://purl.uniprot.org/mim/607831
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2L
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal dominant type 2L
alternative label: Charcot-Marie-Tooth disease axonal type 2L
alternative label: Charcot-Marie-Tooth disease neuronal type 2L
alternative label: Charcot-Marie-Tooth neuropathy type 2L
mnemonic: CMT2L
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/608673
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2M
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal dominant type 2M
alternative label: Charcot-Marie-Tooth disease axonal type 2M
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2M
mnemonic: CMT2M
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/606482
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2N
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal dominant type 2N
alternative label: Charcot-Marie-Tooth disease axonal type 2N
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2N
mnemonic: CMT2N
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/613287
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2O
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal dominant type 2O
alternative label: Charcot-Marie-Tooth disease axonal type 2O
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2O
mnemonic: CMT2O
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/614228
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2P
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal type 2G
alternative label: Charcot-Marie-Tooth disease axonal type 2P
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2P
alternative label: CMT2G
mnemonic: CMT2P
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/614436
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2Q
type: Disease
alternative label: Charcot-Marie-Tooth disease axonal autosomal dominant type 2Q
alternative label: Charcot-Marie-Tooth disease axonal type 2Q
alternative label: Charcot-Marie-Tooth neuropathy, type 2Q
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2Q
mnemonic: CMT2Q
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/615025
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2R
type: Disease
alternative label: Autosomal recessive Charcot-Marie-Tooth disease axonal type 2R
alternative label: Charcot-Marie-Tooth disease axonal type 2R
alternative label: Charcot-Marie-Tooth neuropathy, type 2R
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2R
mnemonic: CMT2R
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/615490
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2S
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S
alternative label: Charcot-Marie-Tooth neuropathy, type 2S
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2S
mnemonic: CMT2S
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/616155
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2T
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2T.
alternative label: Charcot-Marie-Tooth neuropathy, type 2T.
alternative label: Charcot-Marie-Tooth neuropathy axonal type 2T.
mnemonic: CMT2T
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/617017
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2U
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U
alternative label: Charcot-Marie-Tooth neuropathy, type 2U
mnemonic: CMT2U
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2U is a slowly progressive, autosomal dominant form characterized by late-adult onset.

http://purl.uniprot.org/mim/616280
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2V
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V
alternative label: Charcot-Marie-Tooth disease, axonal, type 2V
alternative label: Charcot-Marie-Tooth neuropathy, type 2V
mnemonic: CMT2V
comment: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2V is an autosomal dominant sensory neuropathy with late onset. The main clinical feature is recurrent leg pain that progresses to constant painful paraesthesias in the feet and later the hands. As it evolves, some patients develop a mild sensory ataxia.

http://purl.uniprot.org/mim/616491
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2W
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W
alternative label: Charcot-Marie-Tooth disease, axonal, type 2W
alternative label: Charcot-Marie-Tooth neuropathy, type 2W
mnemonic: CMT2W
comment: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2W patients manifest a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Most patients also have upper limb involvement.

http://purl.uniprot.org/mim/616625
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2X
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X
alternative label: Charcot-Marie-Tooth disease, axonal, type 2X
alternative label: Charcot-Marie-Tooth neuropathy, type 2X
mnemonic: CMT2X
comment: An autosomal recessive, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2X patients manifest a slowly progressive, peripheral neuropathy affecting the lower limbs and resulting in gait difficulties and distal sensory impairment. Some patients also have upper limb involvement.

http://purl.uniprot.org/mim/616668
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2Y
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y
alternative label: Charcot-Marie-Tooth disease, axonal, type 2Y
alternative label: Charcot-Marie-Tooth neuropathy, type 2Y
mnemonic: CMT2Y
comment: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/616687
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, 2Z
type: Disease
alternative label: Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z
alternative label: Charcot-Marie-Tooth disease, axonal, type 2Z
alternative label: Charcot-Marie-Tooth neuropathy, type 2Z
mnemonic: CMT2Z
comment: An autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

http://purl.uniprot.org/mim/616688
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
type: Disease
alternative label: Charcot-Marie-Tooth axonal type 4A
alternative label: Charcot-Marie-Tooth neuropathy axonal with vocal cord paresis autosomal recessive
alternative label: CMT2 with vocal cord paresis autosomal recessive
mnemonic: CMT2RV
comment: A form of Charcot-Marie-Tooth disease characterized by the association of axonal neuropathy with vocal cord paresis. Charcot-Marie-Tooth disease is a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms.

http://purl.uniprot.org/mim/607706
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1A
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating type 1A
alternative label: Charcot-Marie-Tooth disease slow nerve conduction type unlinked to Duffy
alternative label: Charcot-Marie-Tooth neuropathy type 1A
alternative label: Hereditary motor and sensory neuropathy IA
alternative label: HMSN1A
alternative label: HMSN IA
mnemonic: CMT1A
comment: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

http://purl.uniprot.org/mim/118220
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1B
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating type 1B
alternative label: Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy
alternative label: Charcot-Marie-Tooth neuropathy type 1B
alternative label: Hereditary motor and sensory neuropathy IB
alternative label: HMSN1B
alternative label: HMSN IB
alternative label: Peroneal muscular atrophy
mnemonic: CMT1B
comment: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

http://purl.uniprot.org/mim/118200
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1C
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating type 1C
alternative label: Charcot-Marie-Tooth neuropathy type 1C
alternative label: Hereditary motor and sensory neuropathy IC
alternative label: HMSN1C
alternative label: HMSN IC
mnemonic: CMT1C
comment: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

http://purl.uniprot.org/mim/601098
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1D
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating type 1D
alternative label: Charcot-Marie-Tooth neuropathy type 1D
alternative label: Hereditary motor and sensory neuropathy ID
alternative label: HMSN1D
alternative label: HMSN ID
mnemonic: CMT1D
comment: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

http://purl.uniprot.org/mim/607678
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1E
type: Disease
alternative label: Charcot-Marie-Tooth disease and deafness autosomal dominant
alternative label: Charcot-Marie-Tooth disease demyelinating type 1E
alternative label: Charcot-Marie-Tooth neuropathy type 1E
mnemonic: CMT1E
comment: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.

http://purl.uniprot.org/mim/118300
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1F
type: Disease
alternative label: Charcot-Marie-Tooth disease demyelinating type 1F
alternative label: Charcot-Marie-Tooth neuropathy type 1F
mnemonic: CMT1F
comment: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years).

http://purl.uniprot.org/mim/607734
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1G
type: Disease
alternative label: Charcot-Marie-Tooth disease, demyelinating, type 1G
mnemonic: CMT1G
comment: An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1G is characterized by distal muscle weakness and atrophy with onset in the first or second decade.

http://purl.uniprot.org/mim/618279
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1H
type: Disease
alternative label: Charcot-Marie-Tooth disease, demyelinating, type 1H
alternative label: Charcot-Marie-Tooth neuropathy, type 1H
alternative label: Hereditary motor and sensory neuropathy, IH
alternative label: HNARMD
alternative label: Neuropathy, hereditary, with or without age-related macular degeneration
mnemonic: CMT1H
comment: An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1H is characterized by peripheral sensorimotor neuropathy with onset usually in adulthood. Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Rare patients may have hyperelastic skin or develop age-related macular degeneration.

http://purl.uniprot.org/mim/619764
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1I
type: Disease
alternative label: Charcot-Marie-Tooth disease, demyelinating, type 1I
alternative label: Charcot-Marie-Tooth neuropathy, type 1I
mnemonic: CMT1I
comment: An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1I is characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties.

http://purl.uniprot.org/mim/619742
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, demyelinating, 1J
type: Disease
alternative label: Charcot-Marie-Tooth disease, demyelinating, type 1J
mnemonic: CMT1J
comment: An autosomal dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.

http://purl.uniprot.org/mim/620111
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, dominant intermediate B
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy dominant intermediate B
alternative label: CMTDI1
alternative label: DI-CMTB
mnemonic: CMTDIB
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

Charcot-Marie-Tooth disease, dominant intermediate C
type: Disease
mnemonic: CMTDIC
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type C is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

http://purl.uniprot.org/mim/608323
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, dominant intermediate D
type: Disease
mnemonic: CMTDID
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type D is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

http://purl.uniprot.org/mim/607791
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, dominant intermediate E
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis
mnemonic: CMTDIE
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy.

http://purl.uniprot.org/mim/614455
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, dominant intermediate F
type: Disease
mnemonic: CMTDIF
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMTDIF is characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range.

http://purl.uniprot.org/mim/615185
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, dominant intermediate G
type: Disease
alternative label: Charcot-Marie-Tooth disease, dominant, intermediate type, G
mnemonic: CMTDIG
comment: An autosomal dominant, intermediate form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Dominant intermediate forms are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. CMTDIG is phenotypically variable. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment.

http://purl.uniprot.org/mim/617882
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, recessive intermediate A
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy recessive intermediate A
alternative label: RI-CMTA
mnemonic: CMTRIA
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

http://purl.uniprot.org/mim/608340
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, recessive intermediate B
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy recessive intermediate B
alternative label: RI-CMTB
mnemonic: CMTRIB
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

http://purl.uniprot.org/mim/613641
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, recessive intermediate C
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy recessive intermediate C
alternative label: RI-CMTC
mnemonic: CMTRIC
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

http://purl.uniprot.org/mim/615376
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, recessive intermediate D
type: Disease
mnemonic: CMTRID
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

http://purl.uniprot.org/mim/616039
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, X-linked dominant, 1
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy X-linked 1
alternative label: Charcot-Marie-Tooth peroneal muscular atrophy X-linked
alternative label: CMTX
alternative label: Hereditary motor and sensory neuropathy X-linked
alternative label: HMSN X-linked
mnemonic: CMTX1
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy. CMTX1 has both demyelinating and axonal features. Central nervous system involvement may occur.

http://purl.uniprot.org/mim/302800
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, X-linked dominant, 6
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy X-linked 6
mnemonic: CMTX6
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.

http://purl.uniprot.org/mim/300905
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia
type: Disease
alternative label: Charcot-Marie-Tooth disease X-linked recessive 4
alternative label: Cowchock syndrome
alternative label: COWCK
alternative label: NADMR
alternative label: NAMSD
mnemonic: CMTX4
comment: A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood.

http://purl.uniprot.org/mim/310490
comment: phenotype
database: MIM

Charcot-Marie-Tooth disease, X-linked recessive, 5
type: Disease
alternative label: Charcot-Marie-Tooth neuropathy X-linked recessive 5
alternative label: Optic atrophy with polyneuropathy and deafness
alternative label: Rosenberg-Chutorian syndrome
mnemonic: CMTX5
comment: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies characterized by severely reduced motor nerve conduction velocities (NCVs) (less than 38m/s) and segmental demyelination and remyelination, and primary peripheral axonal neuropathies characterized by normal or mildly reduced NCVs and chronic axonal degeneration and regeneration on nerve biopsy.

http://purl.uniprot.org/mim/311070
comment: phenotype
database: MIM

CHARGE syndrome
type: Disease
mnemonic: CHARGES
comment: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.

http://purl.uniprot.org/mim/214800
comment: phenotype
database: MIM

Chediak-Higashi syndrome
type: Disease
mnemonic: CHS
comment: A rare autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency, a bleeding tendency, neurologic abnormalities, abnormal intracellular transport to and from the lysosome, and giant inclusion bodies in a variety of cell types. Most patients die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT).

http://purl.uniprot.org/mim/214500
comment: phenotype
database: MIM

Cherubism
type: Disease
mnemonic: CRBM
comment: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.

http://purl.uniprot.org/mim/118400
comment: phenotype
database: MIM

Chilblain lupus 1
type: Disease
alternative label: Chilblain lupus erythematosus
alternative label: CHLE
alternative label: Hutchinson lupus
mnemonic: CHBL1
comment: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure.

http://purl.uniprot.org/mim/610448
comment: phenotype
database: MIM

Chilblain lupus 2
type: Disease
mnemonic: CHBL2
comment: A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure.

http://purl.uniprot.org/mim/614415
comment: phenotype
database: MIM

Childhood cancer retinoblastoma
type: Disease
mnemonic: RB
comment: Congenital malignant tumor that arises from the nuclear layers of the retina. It occurs in about 1:20'000 live births and represents about 2% of childhood malignancies. It is bilateral in about 30% of cases. Although most RB appear sporadically, about 20% are transmitted as an autosomal dominant trait with incomplete penetrance. The diagnosis is usually made before the age of 2 years when strabismus or a gray to yellow reflex from pupil ('cat eye') is investigated.

http://purl.uniprot.org/mim/180200
comment: phenotype
database: MIM

Chilton-Okur-Chung neurodevelopmental syndrome
type: Disease
mnemonic: CHOCNS
comment: A disorder characterized by developmental delay, intellectual disability, hypotonia, and structural brain abnormalities including cerebellar vermis hypoplasia and agenesis or hypoplasia of the corpus callosum. Most patients have behavioral abnormalities, including autism spectrum disorder, attention deficit and hyperactivity disorder, and aggression. About half of patients have dysmorphic facial features. Rare involvement of other organ systems may be present.

http://purl.uniprot.org/mim/619841
comment: phenotype
database: MIM

Chitayat syndrome
type: Disease
mnemonic: CHYTS
comment: An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy.

http://purl.uniprot.org/mim/617180
comment: phenotype
database: MIM

Choanal atresia and lymphedema
type: Disease
mnemonic: CATLPH
comment: A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum.

http://purl.uniprot.org/mim/613611
comment: phenotype
database: MIM

Cholestasis of pregnancy, intrahepatic 1
type: Disease
alternative label: Obstetric cholestasis
alternative label: Pregnancy-related cholestasis
alternative label: Recurrent intrahepatic cholestasis of pregnancy
mnemonic: ICP1
comment: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery.

http://purl.uniprot.org/mim/147480
comment: phenotype
database: MIM

Cholestasis of pregnancy, intrahepatic 3
type: Disease
mnemonic: ICP3
comment: A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. It causes fetal distress, spontaneous premature delivery and intrauterine death. Patients have spontaneous and progressive disappearance of cholestasis after delivery. Cholestasis results from abnormal biliary transport from the liver into the small intestine.

http://purl.uniprot.org/mim/614972
comment: phenotype
database: MIM

Cholestasis, benign recurrent intrahepatic, 1
type: Disease
alternative label: Recurrent familial intrahepatic cholestasis
alternative label: Summerskill syndrome
mnemonic: BRIC1
comment: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

http://purl.uniprot.org/mim/243300
comment: phenotype
database: MIM

Cholestasis, benign recurrent intrahepatic, 2
type: Disease
mnemonic: BRIC2
comment: A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically.

http://purl.uniprot.org/mim/605479
comment: phenotype
database: MIM

Cholestasis, neonatal intrahepatic, caused by citrin deficiency
type: Disease
alternative label: Citrin deficiency
alternative label: Citrullinemia, type II, neonatal-onset
alternative label: Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia
alternative label: Neonatal-onset citrullinemia type 2
alternative label: Neonatal-onset citrullinemia type II
mnemonic: NICCD
comment: A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms.

http://purl.uniprot.org/mim/605814
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 1
type: Disease
alternative label: Byler disease
alternative label: Fatal intrahepatic cholestasis
mnemonic: PFIC1
comment: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/211600
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 10
type: Disease
mnemonic: PFIC10
comment: A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC10 is an autosomal recessive form with highly variable phenotype and severity, manifesting in the first months or years of life.

http://purl.uniprot.org/mim/619868
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 11
type: Disease
mnemonic: PFIC11
comment: An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease.

http://purl.uniprot.org/mim/619874
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 12
type: Disease
alternative label: Cholestasis, isolated low -GGT
mnemonic: PFIC12
comment: A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC12 is an autosomal recessive form characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus.

http://purl.uniprot.org/mim/620010
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 2
type: Disease
mnemonic: PFIC2
comment: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/601847
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 3
type: Disease
alternative label: MDR3 deficiency
alternative label: Progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase
mnemonic: PFIC3
comment: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC3 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/602347
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 4
type: Disease
mnemonic: PFIC4
comment: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC4 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/615878
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 5
type: Disease
mnemonic: PFIC5
comment: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period.

http://purl.uniprot.org/mim/617049
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 6
type: Disease
mnemonic: PFIC6
comment: An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea.

http://purl.uniprot.org/mim/619484
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
type: Disease
mnemonic: PFIC7
comment: An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients develop hearing loss in childhood.

http://purl.uniprot.org/mim/619658
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 8
type: Disease
mnemonic: PFIC8
comment: An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in early infancy.

http://purl.uniprot.org/mim/619662
comment: phenotype
database: MIM

Cholestasis, progressive familial intrahepatic, 9
type: Disease
mnemonic: PFIC9
comment: An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC9 onset is in infancy or early childhood.

http://purl.uniprot.org/mim/619849
comment: phenotype
database: MIM

Cholesteryl ester storage disease
type: Disease
alternative label: Cholesterol ester hydrolase deficiency
alternative label: Cholesterol ester storage disease
alternative label: LAL deficiency
alternative label: LIPA deficiency
alternative label: Lysosomal acid lipase deficiency
mnemonic: CESD
comment: A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.

http://purl.uniprot.org/mim/278000
comment: phenotype
database: MIM

Chondrocalcinosis 2
type: Disease
alternative label: Calcium gout
alternative label: Calcium pyrophosphate arthropathy
alternative label: Calcium pyrophosphate dihydrate deposition disease
alternative label: Calcium pyrophosphate dihydrate deposition disease 2
alternative label: Chondrocalcinosis, familial articular
alternative label: CPPDD
alternative label: CPPDD2
alternative label: Familial articular chondrocalcinosis
mnemonic: CCAL2
comment: Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/118600
comment: phenotype
database: MIM

Chondrodysplasia Blomstrand type
type: Disease
mnemonic: BOCD
comment: Severe skeletal dysplasia.

http://purl.uniprot.org/mim/215045
comment: phenotype
database: MIM

Chondrodysplasia punctata 1, X-linked recessive
type: Disease
alternative label: Chondrodysplasia punctata brachytelephalangic
mnemonic: CDPX1
comment: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.

http://purl.uniprot.org/mim/302950
comment: phenotype
database: MIM

Chondrodysplasia punctata 2, X-linked dominant
type: Disease
alternative label: CHH
alternative label: Conradi-Hunermann-Happle syndrome
alternative label: Conradi-Hunermann syndrome
alternative label: Happle syndrome
mnemonic: CDPX2
comment: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.

http://purl.uniprot.org/mim/302960
comment: phenotype
database: MIM

Chondrodysplasia with joint dislocations, GPAPP type
type: Disease
alternative label: GPAPP deficiency
mnemonic: CDP-GPAPP
comment: A condition consisting of congenital joint dislocations, chondrodysplasia with short stature, micrognathia and cleft palate, and a distinctive face.

http://purl.uniprot.org/mim/614078
comment: phenotype
database: MIM

Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
type: Disease
mnemonic: CDP-PBHM
comment: A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild intellectual disability.

http://purl.uniprot.org/mim/300863
comment: phenotype
database: MIM

Chondrosarcoma
type: Disease
mnemonic: CHDSA
comment: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.

http://purl.uniprot.org/mim/215300
comment: phenotype
database: MIM

Chopra-Amiel-Gordon syndrome
type: Disease
mnemonic: CAGS
comment: An autosomal dominant disorder characterized by developmental delay, intellectual disability, speech delay, and dysmorphic facial features. Additional features include growth failure, feeding difficulties, non-specific brain abnormalities, ophthalmological abnormalities, gait and balance disturbance, joint hypermobility, and predisposition to recurrent infections.

http://purl.uniprot.org/mim/619504
comment: phenotype
database: MIM

CHOPS syndrome
type: Disease
mnemonic: CHOPS
comment: A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

http://purl.uniprot.org/mim/616368
comment: phenotype
database: MIM

Chordoma
type: Disease
mnemonic: CHDM
comment: Rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues and rarely, distant metastatic spread.

http://purl.uniprot.org/mim/215400
comment: phenotype
database: MIM

Chorea, childhood-onset, with psychomotor retardation
type: Disease
mnemonic: COCPMR
comment: An autosomal recessive neurodevelopmental disorder characterized by abnormal involuntary movements, marked speech delay, intellectual disability and learning difficulties.

http://purl.uniprot.org/mim/616939
comment: phenotype
database: MIM

Chorea, hereditary benign
type: Disease
alternative label: Hereditary chorea without dementia
mnemonic: BHC
comment: A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.

http://purl.uniprot.org/mim/118700
comment: phenotype
database: MIM

Choreoacanthocytosis
type: Disease
alternative label: Acanthocytosis with neurologic disorder
alternative label: Chorea-acanthocytosis
alternative label: Levine-Critchley syndrome
alternative label: Neuroacanthocytosis
mnemonic: CHAC
comment: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation.

http://purl.uniprot.org/mim/200150
comment: phenotype
database: MIM

Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
type: Disease
alternative label: Brain-lung-thyroid syndrome
alternative label: Choreoathetosis, hypothyroidism, and neonatal respiratory distress
mnemonic: CAHTP
comment: An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.

http://purl.uniprot.org/mim/610978
comment: phenotype
database: MIM

Chorioretinal atrophy, progressive bifocal
type: Disease
alternative label: Progressive bifocal chorioretinal atrophy
mnemonic: PBCRA
comment: An autosomal dominant, progressive chorioretinal dystrophy characterized by atrophic macular and nasal retinal lesions evident soon after birth, nystagmus, myopia, and poor vision. Retinal detachment is observed in some patients.

http://purl.uniprot.org/mim/600790
comment: phenotype
database: MIM

Choroidal dystrophy, central areolar 2
type: Disease
mnemonic: CACD2
comment: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.

http://purl.uniprot.org/mim/613105
comment: phenotype
database: MIM

Choroidal dystrophy, central areolar, 1
type: Disease
alternative label: CACD
alternative label: Choroidal dystrophy
alternative label: Choroidal dystrophy, central areolar
mnemonic: CACD1
comment: A form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris. CACD1 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/215500
comment: phenotype
database: MIM

Choroideremia
type: Disease
alternative label: Progressive tapetochoroidal dystrophy
alternative label: TCD
mnemonic: CHM
comment: An X-linked recessive disease characterized by a slowly progressive degeneration of the choroid, photoreceptors, and retinal pigment epithelium. Affected males develop night blindness in their teenage years followed by loss of peripheral vision and complete blindness at middle age. Carrier females are generally asymptomatic but funduscopic examination often shows patchy areas of chorioretinal atrophy.

http://purl.uniprot.org/mim/303100
comment: phenotype
database: MIM

Chronic atrial and intestinal dysrhythmia
type: Disease
mnemonic: CAID
comment: A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle.

http://purl.uniprot.org/mim/616201
comment: phenotype
database: MIM

Chronic infantile neurologic cutaneous and articular syndrome
type: Disease
alternative label: CAPS3
alternative label: CINCA syndrome
alternative label: Cryopyrin-associated periodic syndrome 3
alternative label: Neonatal onset multisystem inflammatory disease
alternative label: NOMID
mnemonic: CINCA
comment: Rare congenital inflammatory disorder characterized by a triad of neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation.

http://purl.uniprot.org/mim/607115
comment: phenotype
database: MIM

Chudley-McCullough syndrome
type: Disease
alternative label: Deafness autosomal recessive 82
alternative label: DFNB82
alternative label: Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts
mnemonic: CMCS
comment: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal.

http://purl.uniprot.org/mim/604213
comment: phenotype
database: MIM

Chung-Jansen syndrome
type: Disease
alternative label: Developmental delay, intellectual disability, obesity, and dysmorphic features
alternative label: DIDOD
mnemonic: CHUJANS
comment: An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features.

http://purl.uniprot.org/mim/617991
comment: phenotype
database: MIM

Chylomicron retention disease
type: Disease
alternative label: ANDD
alternative label: Anderson disease
alternative label: Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells
alternative label: Lipid transport defect of intestine
mnemonic: CMRD
comment: An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.

http://purl.uniprot.org/mim/246700
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 1
type: Disease
alternative label: ICS1
alternative label: Immotile cilia syndrome 1
alternative label: PCD
alternative label: Primary ciliary dyskinesia
mnemonic: CILD1
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/244400
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 10
type: Disease
alternative label: ICS10
alternative label: Immotile cilia syndrome 10
alternative label: Primary ciliary dyskinesia 10 with or without situs inversus
mnemonic: CILD10
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/612518
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 11
type: Disease
alternative label: ICS11
alternative label: Immotile cilia syndrome 11
alternative label: Primary ciliary dyskinesia 11 without situs inversus
mnemonic: CILD11
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/612649
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 12
type: Disease
alternative label: ICS12
alternative label: Immotile cilia syndrome 12
alternative label: Primary ciliary dyskinesia 12 without situs inversus
mnemonic: CILD12
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/612650
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 13
type: Disease
alternative label: ICS13
alternative label: Immotile cilia syndrome 13
alternative label: Primary ciliary dyskinesia 13 with or without situs inversus
mnemonic: CILD13
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.

http://purl.uniprot.org/mim/613193
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 14
type: Disease
alternative label: ICS14
alternative label: Immotile cilia syndrome 14
alternative label: Primary ciliary dyskinesia 14 with or without situs inversus
mnemonic: CILD14
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/613807
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 15
type: Disease
alternative label: ICS15
alternative label: Immotile cilia syndrome 15
alternative label: Primary ciliary dyskinesia 15 with or without situs inversus
mnemonic: CILD15
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/613808
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 16
type: Disease
alternative label: ICS16
alternative label: Immotile cilia syndrome 16
alternative label: Primary ciliary dyskinesia 16 with or without situs inversus
mnemonic: CILD16
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/614017
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 17
type: Disease
alternative label: ICS17
alternative label: Immotile cilia syndrome 17
alternative label: Primary ciliary dyskinesia 17 with or without situs inversus
mnemonic: CILD17
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/614679
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 18
type: Disease
alternative label: ICS18
alternative label: Immotile cilia syndrome 18
alternative label: Primary ciliary dyskinesia 18 with or without situs inversus
mnemonic: CILD18
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/614874
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 19
type: Disease
alternative label: ICS19
alternative label: Immotile cilia syndrome 19
alternative label: Primary ciliary dyskinesia 19 with or without situs inversus
mnemonic: CILD19
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/614935
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 2
type: Disease
alternative label: ICS2
alternative label: Immotile cilia syndrome 2
alternative label: Primary ciliary dyskinesia 2 with or without situs inversus
mnemonic: CILD2
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/606763
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 20
type: Disease
alternative label: ICS20
alternative label: Immotile cilia syndrome 20
alternative label: Primary ciliary dyskinesia 20 with or without situs inversus
mnemonic: CILD20
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile.

http://purl.uniprot.org/mim/615067
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 21
type: Disease
alternative label: Primary ciliary dyskinesia 21 without situs inversus
mnemonic: CILD21
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615294
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 22
type: Disease
alternative label: Primary ciliary dyskinesia 22 with or without situs inversus
mnemonic: CILD22
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615444
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 23
type: Disease
alternative label: Primary ciliary dyskinesia 23 with or without situs inversus
mnemonic: CILD23
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615451
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 24
type: Disease
mnemonic: CILD24
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Situs inversus is not observed in CILD24 patients.

http://purl.uniprot.org/mim/615481
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 25
type: Disease
alternative label: Primary ciliary dyskinesia 25 with or without situs inversus
mnemonic: CILD25
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615482
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 26
type: Disease
alternative label: Primary ciliary dyskinesia 26 with or without situs inversus
mnemonic: CILD26
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615500
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 27
type: Disease
alternative label: Primary ciliary dyskinesia 27 with or without situs inversus
mnemonic: CILD27
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615504
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 28
type: Disease
alternative label: Primary ciliary dyskinesia 28 with or without situs inversus
mnemonic: CILD28
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/615505
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 29
type: Disease
alternative label: Primary ciliary dyskinesia without situs inversus
mnemonic: CILD29
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition.

http://purl.uniprot.org/mim/615872
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 3
type: Disease
alternative label: Ciliary dyskinesia, primary, 3, with or without situs inversus
alternative label: ICS3
alternative label: Immotile cilia syndrome 3
mnemonic: CILD3
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/608644
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 30
type: Disease
alternative label: Primary ciliary dyskinesia 30 with or without situs inversus
mnemonic: CILD30
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/616037
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 32
type: Disease
alternative label: Ciliary dyskinesia, primary, 32, without situs inversus
mnemonic: CILD32
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia.

http://purl.uniprot.org/mim/616481
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 33
type: Disease
alternative label: Ciliary dyskinesia, primary, 33, without situs inversus
mnemonic: CILD33
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/616726
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 34
type: Disease
mnemonic: CILD34
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/617091
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 35
type: Disease
alternative label: Ciliary dyskinesia, primary, 35 with or without situs inversus
alternative label: Primary ciliary dyskinesia 35 with or without situs inversus
mnemonic: CILD35
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/617092
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 36, X-linked
type: Disease
alternative label: Ciliary dyskinesia, primary, 36, with or without situs inversus
mnemonic: CILD36
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node.

http://purl.uniprot.org/mim/300991
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 37
type: Disease
alternative label: Ciliary dyskinesia, primary, 37, with or without situs inversus
mnemonic: CILD37
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/617577
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 38
type: Disease
alternative label: Ciliary dyskinesia, primary, 38, with or without situs inversus
mnemonic: CILD38
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618063
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 39
type: Disease
alternative label: Ciliary dyskinesia, primary, 39, with or without situs inversus
mnemonic: CILD39
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618254
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 40
type: Disease
alternative label: Ciliary dyskinesia, primary, 40, with or without situs inversus
mnemonic: CILD40
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618300
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 41
type: Disease
mnemonic: CILD41
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618449
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 42
type: Disease
alternative label: Ciliary dyskinesia, primary, 42, without situs inversus
mnemonic: CILD42
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618695
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 43
type: Disease
alternative label: Ciliary dyskinesia, primary, 43 with or without situs inversus
mnemonic: CILD43
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618699
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 44
type: Disease
alternative label: Ciliary dyskinesia, primary, 44 without situs inversus
mnemonic: CILD44
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD44 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/618781
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 45
type: Disease
alternative label: Ciliary dyskinesia, primary, 45, without situs inversus
mnemonic: CILD45
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm.

http://purl.uniprot.org/mim/618801
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 46
type: Disease
mnemonic: CILD46
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD46 is an autosomal recessive form. No situs abnormalities have been observed.

http://purl.uniprot.org/mim/619436
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 47, and lissencephaly
type: Disease
mnemonic: CILD47
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD47 is an autosomal recessive form characterized by onset soon after birth or in early childhood. Affected individuals also have neurologic features, such as impaired intellectual development and central hypotonia, associated with structural brain abnormalities, most notably lissencephaly and thin or absent corpus callosum. No situs abnormalities have been observed.

http://purl.uniprot.org/mim/619466
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 48, without situs inversus
type: Disease
mnemonic: CILD48
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD48 is an autosomal recessive form. No situs abnormalities have been observed.

http://purl.uniprot.org/mim/620032
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 49, without situs inversus
type: Disease
mnemonic: CILD49
comment: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD49 is an autosomal recessive form without situs abnormalities. Affected males also show infertility due to defective flagellar morphology and function.

http://purl.uniprot.org/mim/620197
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 5
type: Disease
alternative label: ICS5
alternative label: Immotile cilia syndrome 5
alternative label: Primary ciliary dyskinesia 5 with or without situs inversus
mnemonic: CILD5
comment: An autosomal recessive form of primary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased. Individuals with CILD5 do not have situs inversus.

http://purl.uniprot.org/mim/608647
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 6
type: Disease
alternative label: ICS6
alternative label: Immotile cilia syndrome 6
mnemonic: CILD6
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/610852
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 7
type: Disease
alternative label: ICS7
alternative label: Immotile cilia syndrome 7
mnemonic: CILD7
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/611884
comment: phenotype
database: MIM

Ciliary dyskinesia, primary, 9
type: Disease
alternative label: ICS9
alternative label: Immotile cilia syndrome 9
alternative label: Primary ciliary dyskinesia 9 with or without situs inversus
mnemonic: CILD9
comment: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.

http://purl.uniprot.org/mim/612444
comment: phenotype
database: MIM

CIMDAG syndrome
type: Disease
alternative label: Cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation
mnemonic: CIMDAG
comment: An autosomal dominant syndrome characterized by global developmental delay, severely impaired intellectual development, poor or absent speech, microcephaly, growth retardation, poor motor skills with inability to walk, hypotonia and spasticity, and cataracts. Cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination are apparent on brain imaging. Affected individuals show hematologic abnormalities mostly consistent with congenital dyserythropoietic anemia.

http://purl.uniprot.org/mim/619273
comment: phenotype
database: MIM

Cirrhosis
type: Disease
alternative label: Cryptogenic cirrhosis
mnemonic: CIRRH
comment: A liver disease characterized by severe panlobular liver-cell swelling with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features include abdomen swelling, jaundice and pulmonary hypertension.

http://purl.uniprot.org/mim/215600
comment: phenotype
database: MIM

Citrullinemia 1
type: Disease
alternative label: Argininosuccinate synthetase deficiency
alternative label: ASS deficiency
alternative label: Citrullinemia type I
alternative label: Citrullinuria
alternative label: Classic citrullinemia
mnemonic: CTLN1
comment: The classic form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. It is a disorder of the urea cycle, usually manifesting in the first few days of life. Affected infants appear normal at birth, but as ammonia builds up in the body they present symptoms such as lethargy, poor feeding, vomiting, seizures and loss of consciousness. Less commonly, a milder form can develop later in childhood or adulthood.

http://purl.uniprot.org/mim/215700
comment: phenotype
database: MIM

Citrullinemia 2
type: Disease
alternative label: Adult-onset citrullinemia type 2
alternative label: Citrin deficiency
alternative label: Citrullinemia type II
mnemonic: CTLN2
comment: A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years.

http://purl.uniprot.org/mim/603471
comment: phenotype
database: MIM

CK syndrome
type: Disease
mnemonic: CKS
comment: An X-linked recessive disorder characterized by mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus.

http://purl.uniprot.org/mim/300831
comment: phenotype
database: MIM

CLAPO syndrome
type: Disease
alternative label: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth
alternative label: Lopez-Gutierrez syndrome
mnemonic: CLAPO
comment: A syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs and partial or generalised overgrowth.

http://purl.uniprot.org/mim/613089
comment: phenotype
database: MIM

Clark-Baraitser syndrome
type: Disease
alternative label: MRD49
mnemonic: CLABARS
comment: An autosomal dominant disease characterized by intellectual disability, delayed psychomotor development, behavioral abnormalities, variable dysmorphic facial features, tall stature, obesity, and macrocephaly.

http://purl.uniprot.org/mim/617752
comment: phenotype
database: MIM

Cleft palate isolated
type: Disease
alternative label: CP
mnemonic: CPI
comment: A congenital fissure of the soft and/or hard palate, due to faulty fusion. Isolated cleft palate is not associated with cleft lips. Some patients may manifest other craniofacial dysmorphic features, intellectual disability, and osteoporosis.

http://purl.uniprot.org/mim/119540
comment: phenotype
database: MIM

Cleft palate with or without ankyloglossia, X-linked
type: Disease
alternative label: X-linked cleft palate with ankyloglossia
mnemonic: CPX
comment: A congenital mouth abnormality characterized by fissure of the soft and/or hard palate, due to faulty fusion. Some patients also manifest ankyloglossia, a condition in which movements of the tongue are restricted. Complete ankyloglossia is due to fusion between the tongue and the floor of the mouth. Partial ankyloglossia is due to a short lingual frenum or one which is attached too near the tip of the tongue.

http://purl.uniprot.org/mim/303400
comment: phenotype
database: MIM

Cleft palate, cardiac defects, and impaired intellectual development
type: Disease
alternative label: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
mnemonic: CPCMR
comment: An autosomal dominant disease characterized by multiple congenital malformations, mild-to-severe intellectual disability with poor speech, and delayed psychomotor development. Congenital malformations include heart defects, cleft lip/palate, distally-placed thumbs and toes, and cutaneous syndactyly between the second and third toes.

http://purl.uniprot.org/mim/600987
comment: phenotype
database: MIM

Cleft palate, proliferative retinopathy, and developmental delay
type: Disease
mnemonic: CPPRDD
comment: An autosomal recessive disorder characterized by mild to severe intellectual disability with delayed or absent speech, hypotonia, cleft palate, proliferative retinopathy, and combined sensorineural and conductive hearing loss. Brain imaging shows ventriculomegaly, widened subarachnoid spaces, partial agenesis of the corpus callosum, hypoplastic cerebellar vermis, and Dandy Walker malformation.

http://purl.uniprot.org/mim/619074
comment: phenotype
database: MIM

Cleft palate, psychomotor retardation, and distinctive facial features
type: Disease
mnemonic: CPRF
comment: A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion.

http://purl.uniprot.org/mim/616728
comment: phenotype
database: MIM

Cleidocranial dysplasia 1
type: Disease
alternative label: CCD
alternative label: CLCD
alternative label: Cleidocranial dysostosis
mnemonic: CLCD1
comment: A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. CLCD1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/119600
comment: phenotype
database: MIM

Cleidocranial dysplasia 2
type: Disease
mnemonic: CLCD2
comment: A form of cleidocranial dysplasia, a rare skeletal disorder with significant clinical variability, even within families. Patients typically present with delayed closure of cranial sutures and fontanels with multiple Wormian bones, retarded ossification of the skull, shortening of the distal phalanges, dental anomalies including supernumerary teeth and eruption failure, clavicular hypoplasia or aplasia, wide pubic symphysis, vertebral anomalies, and short stature. Craniofacial features are subtle and characterized by prominent parietal and frontal bones, widely spaced eyes, depressed nasal bridge and small maxilla. Some CLCD2 patients present mild to moderate developmental delay. CLCD2 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/620099
comment: phenotype
database: MIM

Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
type: Disease
alternative label: Talipes equinovarus
alternative label: TEV
mnemonic: CCF
comment: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.

http://purl.uniprot.org/mim/119800
comment: phenotype
database: MIM

COACH syndrome 1
type: Disease
alternative label: Cerebellar vermis hypo/aplasia oligophrenia congenital ataxia ocular coloboma and hepatic fibrosis
alternative label: COACH syndrome
alternative label: Joubert syndrome with congenital hepatic fibrosis
mnemonic: COACH1
comment: A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH1 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/216360
comment: phenotype
database: MIM

COACH syndrome 2
type: Disease
mnemonic: COACH2
comment: A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH2 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/619111
comment: phenotype
database: MIM

COACH syndrome 3
type: Disease
mnemonic: COACH3
comment: A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/619113
comment: phenotype
database: MIM

Cockayne syndrome A
type: Disease
alternative label: CKN1
mnemonic: CSA
comment: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

http://purl.uniprot.org/mim/216400
comment: phenotype
database: MIM

Cockayne syndrome B
type: Disease
alternative label: CKN2
mnemonic: CSB
comment: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

http://purl.uniprot.org/mim/133540
comment: phenotype
database: MIM

Cocoon syndrome
type: Disease
alternative label: Fetal encasement syndrome
mnemonic: COCOS
comment: A lethal syndrome characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.

http://purl.uniprot.org/mim/613630
comment: phenotype
database: MIM

CODAS syndrome
type: Disease
alternative label: Cerebral, ocular, dental, auricular, and skeletal anomalies syndrome
mnemonic: CODASS
comment: A rare syndrome characterized by the combination of cerebral, ocular, dental, auricular, and skeletal features. These include developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts.

http://purl.uniprot.org/mim/600373
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 1
type: Disease
alternative label: Coenzyme Q deficiency 1
alternative label: CoQ deficiency 1
alternative label: Primary CoQ10 deficiency 1
alternative label: Ubiquinone deficiency 1
mnemonic: COQ10D1
comment: An autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.

http://purl.uniprot.org/mim/607426
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 2
type: Disease
mnemonic: COQ10D2
comment: An autosomal recessive multisystem disorder characterized by early-onset deafness, optic atrophy, mild intellectual disability, peripheral neuropathy, obesity, livedo reticularis, and cardiac valvulopathy.

http://purl.uniprot.org/mim/614651
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 3
type: Disease
mnemonic: COQ10D3
comment: A fatal encephalomyopathic form of coenzyme Q10 deficiency with nephrotic syndrome. Coenzyme Q10 deficiency is an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.

http://purl.uniprot.org/mim/614652
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 4
type: Disease
alternative label: ARCA2
alternative label: Autosomal recessive cerebellar ataxia type 2
alternative label: SCAR9
alternative label: Spinocerebellar ataxia autosomal recessive 9
mnemonic: COQ10D4
comment: An autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Patient manifest gait ataxia and cerebellar atrophy with slow progression. Additional features include brisk tendon reflexes and Hoffmann sign, variable psychomotor retardation and variable seizures.

http://purl.uniprot.org/mim/612016
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 5
type: Disease
mnemonic: COQ10D5
comment: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form.

http://purl.uniprot.org/mim/614654
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 6
type: Disease
alternative label: SRNS with sensorineural deafness
alternative label: Steroid-resistant nephrotic syndrome with sensorineural deafness
mnemonic: COQ10D6
comment: An autosomal recessive disorder characterized by onset in infancy of severe progressive nephrotic syndrome resulting in end-stage renal failure and sensorineural deafness. Renal biopsy usually shows focal segmental glomerulosclerosis.

http://purl.uniprot.org/mim/614650
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 7
type: Disease
mnemonic: COQ10D7
comment: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10, and severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rarely, symptoms may have later onset.

http://purl.uniprot.org/mim/616276
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 8
type: Disease
mnemonic: COQ10D8
comment: An autosomal recessive disorder resulting from mitochondrial dysfunction and characterized by decreased levels of coenzyme Q10. Patients manifest neonatal lung hypoplasia, contractures, early infantile hypertension and cardiac hypertrophy, secondary to prenatal kidney dysplasia, with neonatal and infantile renal dysfunction. Clinical features also include progressive peripheral neuropathy, muscular hypotonia and atrophy, and mild psychomotor delay with hearing and visual impairment.

http://purl.uniprot.org/mim/616733
comment: phenotype
database: MIM

Coenzyme Q10 deficiency, primary, 9
type: Disease
mnemonic: COQ10D9
comment: A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. COQ10D9 patients show cerebellar ataxia with cerebellar atrophy. Additional features include generalized tonic-clonic seizures, and cognitive disability. Disease onset is in the first decade of life.

http://purl.uniprot.org/mim/619028
comment: phenotype
database: MIM

Coffin-Lowry syndrome
type: Disease
mnemonic: CLS
comment: An X-linked disorder characterized by intellectual disability associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders.

http://purl.uniprot.org/mim/303600
comment: phenotype
database: MIM

Coffin-Siris syndrome 1
type: Disease
alternative label: Coffin-Siris syndrome
alternative label: CSS
alternative label: Fifth digit syndrome
alternative label: HHID
alternative label: MRD12
mnemonic: CSS1
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

http://purl.uniprot.org/mim/135900
comment: phenotype
database: MIM

Coffin-Siris syndrome 11
type: Disease
mnemonic: CSS11
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS11 is an autosomal dominant form characterized by developmental delay, intellectual disability, hypotonia, feeding difficulties, and small hands and feet.

http://purl.uniprot.org/mim/618779
comment: phenotype
database: MIM

Coffin-Siris syndrome 12
type: Disease
mnemonic: CSS12
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS12 is an autosomal dominant form characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity. Most CSS12 patients do not have the classic hypoplastic fifth digit/nail abnormalities that are often observed in other forms the disease.

http://purl.uniprot.org/mim/619325
comment: phenotype
database: MIM

Coffin-Siris syndrome 2
type: Disease
alternative label: MRD14
mnemonic: CSS2
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

http://purl.uniprot.org/mim/614607
comment: phenotype
database: MIM

Coffin-Siris syndrome 3
type: Disease
alternative label: MRD15
mnemonic: CSS3
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

http://purl.uniprot.org/mim/614608
comment: phenotype
database: MIM

Coffin-Siris syndrome 4
type: Disease
alternative label: MRD16
mnemonic: CSS4
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

http://purl.uniprot.org/mim/614609
comment: phenotype
database: MIM

Coffin-Siris syndrome 5
type: Disease
mnemonic: CSS5
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported.

http://purl.uniprot.org/mim/616938
comment: phenotype
database: MIM

Coffin-Siris syndrome 6
type: Disease
mnemonic: CSS6
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/617808
comment: phenotype
database: MIM

Coffin-Siris syndrome 7
type: Disease
mnemonic: CSS7
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS7 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618027
comment: phenotype
database: MIM

Coffin-Siris syndrome 8
type: Disease
mnemonic: CSS8
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS8 patients manifest prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. CSS8 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618362
comment: phenotype
database: MIM

Coffin-Siris syndrome 9
type: Disease
alternative label: MRD27
mnemonic: CSS9
comment: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS9 is an autosomal dominant form characterized by dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability.

http://purl.uniprot.org/mim/615866
comment: phenotype
database: MIM

Cognitive impairment with or without cerebellar ataxia
type: Disease
mnemonic: CIAT
comment: A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.

http://purl.uniprot.org/mim/614306
comment: phenotype
database: MIM

Cohen syndrome
type: Disease
alternative label: CHS1
alternative label: Hypotonia-obesity-prominent incisors
alternative label: Pepper syndrome
mnemonic: COH1
comment: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.

http://purl.uniprot.org/mim/216550
comment: phenotype
database: MIM

Cohen-Gibson syndrome
type: Disease
mnemonic: COGIS
comment: An autosomal dominant overgrowth disorder characterized by accelerated osseous maturation, advanced bone age, skeletal abnormalities including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, scoliosis, cervical spine anomalies, dysmorphic facial features, and variable intellectual disability.

http://purl.uniprot.org/mim/617561
comment: phenotype
database: MIM

Cole disease
type: Disease
mnemonic: COLED
comment: A rare autosomal dominant genodermatosis characterized by punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer. Some patients also exhibit calcinosis cutis or calcific tendinopathy.

http://purl.uniprot.org/mim/615522
comment: phenotype
database: MIM

Cole-Carpenter syndrome 1
type: Disease
alternative label: Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
mnemonic: CLCRP1
comment: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/112240
comment: phenotype
database: MIM

Cole-Carpenter syndrome 2
type: Disease
mnemonic: CLCRP2
comment: A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP2 inheritance is autosomal recessive.

http://purl.uniprot.org/mim/616294
comment: phenotype
database: MIM

Coloboma of optic nerve
type: Disease
mnemonic: COLON
comment: An ocular defect that is due to malclosure of the fetal intraocular fissure affecting the optic nerve head. In some affected individuals, it appears as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disk.

http://purl.uniprot.org/mim/120430
comment: phenotype
database: MIM

Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome
type: Disease
alternative label: CHIME syndrome
alternative label: Glycosylphosphatidylinositol biosynthesis defect 5
alternative label: GPIBD5
alternative label: Zunich neuroectodermal syndrome
mnemonic: CHIME
comment: An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.

http://purl.uniprot.org/mim/280000
comment: phenotype
database: MIM

Coloboma, ocular, autosomal dominant
type: Disease
alternative label: COI
alternative label: Coloboma of iris, choroid, and retina
alternative label: Ocular coloboma
alternative label: Uveoretinal coloboma
mnemonic: COAD
comment: A set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

http://purl.uniprot.org/mim/120200
comment: phenotype
database: MIM

Coloboma, ocular, autosomal recessive
type: Disease
mnemonic: COAR
comment: An ocular anomaly resulting from abnormal morphogenesis of the optic cup and stalk, and incomplete fusion of the fetal intra-ocular fissure during gestation. The clinical presentation is variable. Some individuals may present with minimal defects in the anterior iris leaf without other ocular defects. More complex malformations create a combination of iris, uveoretinal and/or optic nerve defects without or with microphthalmia or even anophthalmia.

http://purl.uniprot.org/mim/216820
comment: phenotype
database: MIM

Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
type: Disease
mnemonic: COB1
comment: An autosomal dominant disease characterized by uveal colobomata, microphthalmia, cataract and cleft lip/palate. Considerable variability is observed among patients, uveal colobomata being the most constant feature. Some patients manifest intellectual disability of varying degree and/or sensorineural, mid-frequency hearing loss.

http://purl.uniprot.org/mim/120433
comment: phenotype
database: MIM

Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness
type: Disease
alternative label: COMMAD syndrome
mnemonic: COMMAD
comment: An autosomal recessive syndrome characterized by severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment in the hair, skin, and eyes, macrocephaly, facial dysmorphism, and osteopetrosis.

http://purl.uniprot.org/mim/617306
comment: phenotype
database: MIM

Colorblindness, partial, deutan series
type: Disease
alternative label: DCB
alternative label: Deutan colorblindness
alternative label: Deuteranopia
alternative label: Green colorblindness
mnemonic: CBD
comment: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.

http://purl.uniprot.org/mim/303800
comment: phenotype
database: MIM

Colorblindness, partial, protan series
type: Disease
alternative label: Protanopia
alternative label: Red colorblindness
mnemonic: CBP
comment: A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia.

http://purl.uniprot.org/mim/303900
comment: phenotype
database: MIM

Colorectal cancer
type: Disease
alternative label: Colon cancer
mnemonic: CRC
comment: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

http://purl.uniprot.org/mim/114500
comment: phenotype
database: MIM

Colorectal cancer 1
type: Disease
alternative label: Susceptibility to colorectal adenoma and cancer
alternative label: Susceptibility to colorectal cancer on chromosome 9
mnemonic: CRCS1
comment: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

http://purl.uniprot.org/mim/608812
comment: phenotype
database: MIM

Colorectal cancer 10
type: Disease
alternative label: Susceptibility to colorectal cancer on chromosome 19q
mnemonic: CRCS10
comment: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

http://purl.uniprot.org/mim/612591
comment: phenotype
database: MIM

Colorectal cancer 12
type: Disease
alternative label: Susceptibility to colorectal cancer on chromosome 12q24
mnemonic: CRCS12
comment: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.

http://purl.uniprot.org/mim/615083
comment: phenotype
database: MIM

Colorectal cancer 3
type: Disease
alternative label: Susceptibility to colorectal cancer on chromosome 18
mnemonic: CRCS3
comment: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

http://purl.uniprot.org/mim/612229
comment: phenotype
database: MIM

Colorectal cancer 4
type: Disease
alternative label: Susceptibility to colorectal cancer on chromosome 15
mnemonic: CRCS4
comment: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

http://purl.uniprot.org/mim/601228
comment: phenotype
database: MIM

Combined cellular and humoral immune defects with granulomas
type: Disease
mnemonic: CHIDG
comment: Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography.

http://purl.uniprot.org/mim/233650
comment: phenotype
database: MIM

Combined D-2- and L-2-hydroxyglutaric aciduria
type: Disease
mnemonic: D2L2AD
comment: An autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts.

http://purl.uniprot.org/mim/615182
comment: phenotype
database: MIM

Combined deficiency of vitamin K-dependent clotting factors 1
type: Disease
alternative label: MCFD3
alternative label: Multiple coagulation factor deficiency III
mnemonic: VKCFD1
comment: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K.

http://purl.uniprot.org/mim/277450
comment: phenotype
database: MIM

Combined deficiency of vitamin K-dependent clotting factors 2
type: Disease
mnemonic: VKCFD2
comment: VKCFD leads to a bleeding tendency that is usually reversed by oral administration of vitamin K.

http://purl.uniprot.org/mim/607473
comment: phenotype
database: MIM

Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
type: Disease
mnemonic: CIMAH
comment: An autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild intellectual disability, and lymphopenia.

http://purl.uniprot.org/mim/617780
comment: phenotype
database: MIM

Combined lipase deficiency
type: Disease
mnemonic: CLD
comment: Characterized by repeated episodes of pancreatitis, tuberous xanthomas and lipodystrophy and is caused by deficiency of both lipoprotein lipase (LPL) and hepatic triglyceride lipase (HTGL).

http://purl.uniprot.org/mim/246650
comment: phenotype
database: MIM

Combined malonic and methylmalonic aciduria
type: Disease
mnemonic: CMAMMA
comment: A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline.

http://purl.uniprot.org/mim/614265
comment: phenotype
database: MIM

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1
type: Disease
mnemonic: OIEDS1
comment: An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility.

http://purl.uniprot.org/mim/619115
comment: phenotype
database: MIM

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
type: Disease
mnemonic: OIEDS2
comment: An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility.

http://purl.uniprot.org/mim/619120
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 1
type: Disease
alternative label: Hepatoencephalopathy early fatal progressive
mnemonic: COXPD1
comment: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy.

http://purl.uniprot.org/mim/609060
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 10
type: Disease
alternative label: Cardiomyopathy infantile hypertrophic mitochondrial and lactic acidosis
mnemonic: COXPD10
comment: An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases.

http://purl.uniprot.org/mim/614702
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 11
type: Disease
alternative label: Infantile encephaloneuromyopathy due to mitochondrial translation defect
mnemonic: COXPD11
comment: A severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures.

http://purl.uniprot.org/mim/614922
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 12
type: Disease
alternative label: Leukoencephalopathy with thalamus and brainstem involvement and high lactate
alternative label: LTBL
mnemonic: COXPD12
comment: An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability.

http://purl.uniprot.org/mim/614924
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 13
type: Disease
mnemonic: COXPD13
comment: A mitochondrial disorder characterized by early onset severe encephalomyopathy, dystonia, choreoathetosis, bucofacial dyskinesias and combined mitochondrial respiratory chain deficiency. Nerve conductions velocities are decreased. Levels of plasma and cerebrospinal fluid lactate are increased.

http://purl.uniprot.org/mim/614932
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 14
type: Disease
mnemonic: COXPD14
comment: A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes.

http://purl.uniprot.org/mim/614946
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 15
type: Disease
mnemonic: COXPD15
comment: An autosomal recessive, mitochondrial, neurologic disorder characterized by features of Leigh syndrome and combined oxidative phosphorylation deficiency. Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem.

http://purl.uniprot.org/mim/614947
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 16
type: Disease
mnemonic: COXPD16
comment: An autosomal recessive, mitochondrial disorder characterized by hypertrophic cardiomyopathy, liver steatosis, and decreased levels of mitochondrial complexes I and IV in heart and skeletal muscle.

http://purl.uniprot.org/mim/615395
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 17
type: Disease
mnemonic: COXPD17
comment: An autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood.

http://purl.uniprot.org/mim/615440
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 18
type: Disease
mnemonic: COXPD18
comment: An autosomal recessive disorder of mitochondrial dysfunction characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia.

http://purl.uniprot.org/mim/615578
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 19
type: Disease
mnemonic: COXPD19
comment: A mitochondrial disorder characterized by respiratory distress, hypotonia, and severe lactic acidosis in the newborn period. Other features include gastroesophageal reflux and elevated liver enzymes with normal synthetic function.

http://purl.uniprot.org/mim/615595
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 2
type: Disease
alternative label: Agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
mnemonic: COXPD2
comment: A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.

http://purl.uniprot.org/mim/610498
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 20
type: Disease
mnemonic: COXPD20
comment: A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy.

http://purl.uniprot.org/mim/615917
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 21
type: Disease
mnemonic: COXPD21
comment: A mitochondrial disorder characterized by a lethal encephalomyopathy. Shortly after birth, affected individuals manifest axial hypotonia, limb hypertonia, psychomotor delay, and increased serum lactate. Additional features include subsarcolemmal lipofuscin-positive deposits in muscle, cerebral spongiosis, and hepatic steatosis.

http://purl.uniprot.org/mim/615918
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 22
type: Disease
mnemonic: COXPD22
comment: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure.

http://purl.uniprot.org/mim/616045
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 23
type: Disease
mnemonic: COXPD23
comment: An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life.

http://purl.uniprot.org/mim/616198
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 24
type: Disease
mnemonic: COXPD24
comment: An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.

http://purl.uniprot.org/mim/616239
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 25
type: Disease
mnemonic: COXPD25
comment: A mitochondrial disorder resulting in developmental delay, growth failure, and sensorineural hearing loss.

http://purl.uniprot.org/mim/616430
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 27
type: Disease
mnemonic: COXPD27
comment: An autosomal recessive mitochondrial disorder characterized by multiple mitochondrial respiratory-chain-complex deficiencies causing neurological regression, progressive cognitive decline, complex movement disorder, epileptic encephalopathy, progressive spastic tetraparesis, and progressive impairment of vision and hearing.

http://purl.uniprot.org/mim/616672
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 28
type: Disease
mnemonic: COXPD28
comment: An autosomal recessive mitochondrial disorder characterized by decreased activities of respiratory chain enzymes, and variable clinical manifestations. Clinical features include episodic metabolic decompensation beginning in infancy, mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death.

http://purl.uniprot.org/mim/616794
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 29
type: Disease
mnemonic: COXPD29
comment: An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy.

http://purl.uniprot.org/mim/616811
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 3
type: Disease
alternative label: Concentric cardiomyopathy hypotonia and lactic acidosis
alternative label: Encephalomyopathy respiratory failure and lactic acidosis
mnemonic: COXPD3
comment: A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.

http://purl.uniprot.org/mim/610505
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 30
type: Disease
mnemonic: COXPD30
comment: An autosomal recessive, severe mitochondrial disease characterized by lactic acidosis, hypotonia, feeding difficulties, deafness, and respiratory failure with fatal issue. Patient skeletal muscle cells show decreased activities of mitochondrial complexes I, III and IV.

http://purl.uniprot.org/mim/616974
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 31
type: Disease
mnemonic: COXPD31
comment: An autosomal recessive, severe mitochondrial disease with multisystemic manifestations appearing soon after birth or in early infancy. Clinical features include left ventricular non-compaction, global developmental delay, severe hypotonia, seizures, cataract, and abnormal movements. Death may occur in early childhood.

http://purl.uniprot.org/mim/617228
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 32
type: Disease
mnemonic: COXPD32
comment: An autosomal recessive disorder due to deficiency of mitochondrial respiratory chain complexes, I, III and IV, and characterized by delayed psychomotor development and neurodevelopmental regression. Additional variable symptoms include poor or absent speech, inability to walk, and abnormal movements.

http://purl.uniprot.org/mim/617664
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 33
type: Disease
mnemonic: COXPD33
comment: An autosomal recessive disorder caused by multiple mitochondrial respiratory chain defects and impaired mitochondrial energy metabolism. Clinical manifestations are highly variable. Affected infants present with cardiomyopathy accompanied by multisystemic features involving liver, kidney, and brain. Death in infancy is observed in some patients. Children and adults present with myopathy and progressive external ophthalmoplegia.

http://purl.uniprot.org/mim/617713
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 34
type: Disease
mnemonic: COXPD34
comment: An autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure.

http://purl.uniprot.org/mim/617872
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 35
type: Disease
mnemonic: COXPD35
comment: An autosomal recessive disorder caused by defective mitochondrial metabolism and deficiencies of mitochondrial respiratory enzyme complexes. Clinical manifestations include global developmental delay, intellectual disability, microcephaly, and early-onset seizures.

http://purl.uniprot.org/mim/617873
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 36
type: Disease
mnemonic: COXPD36
comment: An autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability.

http://purl.uniprot.org/mim/617950
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 37
type: Disease
mnemonic: COXPD37
comment: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by hypotonia, failure to thrive, progressive neurodegeneration with neurologic deterioration after the first months of life, global developmental delay, as well as liver dysfunction. Some patients may have hypertrophic cardiomyopathy, loss of vision and hearing, and/or seizures. Death in first months or years of life is observed in most patients.

http://purl.uniprot.org/mim/618329
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 38
type: Disease
mnemonic: COXPD38
comment: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability.

http://purl.uniprot.org/mim/618378
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 39
type: Disease
mnemonic: COXPD39
comment: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by global developmental delay, axial hypotonia, dystonia, dysarthria, impaired intellectual development with poor speech, and deficiencies of the mitochondrial respiratory chain enzyme complexes. Neuroimaging shows abnormalities in the putamen and caudate nuclei, along with subcortical white matter involvement.

http://purl.uniprot.org/mim/618397
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 4
type: Disease
mnemonic: COXPD4
comment: A mitochondrial disease resulting in neonatal lactic acidosis, rapidly progressive encephalopathy, severely decreased mitochondrial protein synthesis, and combined deficiency of mtDNA-related mitochondrial respiratory chain complexes.

http://purl.uniprot.org/mim/610678
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 40
type: Disease
mnemonic: COXPD40
comment: An autosomal recessive mitochondrial disorder characterized by prenatal or infantile onset, fetal hydrops, severe hypertrophic cardiomyopathy, poor growth, sensorineural hearing loss, hepatic dysfunction, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in infancy.

http://purl.uniprot.org/mim/618835
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 41
type: Disease
mnemonic: COXPD41
comment: An autosomal recessive mitochondrial disorder characterized by prenatal onset, fetal hydrops, intrauterine growth retardation, hypertrophic cardiomyopathy, respiratory insufficiency, lactic acidosis, and decreased activities of mitochondrial respiratory complexes I, III, IV, and V. The disorder is lethal, with death occurring in the perinatal period.

http://purl.uniprot.org/mim/618838
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 42
type: Disease
mnemonic: COXPD42
comment: An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy.

http://purl.uniprot.org/mim/618839
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 43
type: Disease
mnemonic: COXPD43
comment: An autosomal recessive mitochondrial disorder characterized by onset at birth, intrauterine growth retardation, hypotonia, myopathy, feeding difficulties associated with gastroesophageal reflux, and persistently elevated serum lactate and creatine kinase. Brain imaging shows delayed myelination. Muscle biopsy shows decreased activities of mitochondrial respiratory chain complexes I, III, and IV.

http://purl.uniprot.org/mim/618851
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 44
type: Disease
mnemonic: COXPD44
comment: An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid.

http://purl.uniprot.org/mim/618855
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 45
type: Disease
mnemonic: COXPD45
comment: An autosomal recessive mitochondrial disorder with onset in utero and characterized by poor overall growth, failure to thrive, global developmental delay, poor or absent speech, seizures, hypotonia, loss of walking, acute progressive neurologic deterioration, brain lesions, and facial dysmorphism. Laboratory studies show increased serum lactate and decreased mitochondrial respiratory chain enzyme activity in patient tissues.

http://purl.uniprot.org/mim/618951
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 46
type: Disease
mnemonic: COXPD46
comment: An autosomal recessive disorder characterized by childhood-onset mitochondrial respiratory chain complex deficiencies, particularly complexes I and IV, and hepatic disease.

http://purl.uniprot.org/mim/618952
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 47
type: Disease
mnemonic: COXPD47
comment: An autosomal recessive, multisystemic, mitochondrial disorder characterized by intrauterine growth retardation, swallowing difficulties with failure to thrive, hypoglycemia, dehydration, and hepatomegaly. Additional features include global developmental delay with impaired intellectual development and absent speech, microcephaly, facial dysmorphism, cataract, sensorineural deafness, skeletal features, and cryptorchidism. Laboratory studies show metabolic acidosis, increased serum lactate, and variably impaired activity of mitochondrial respiratory complexes I, III, IV, and V in different tissues.

http://purl.uniprot.org/mim/618958
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 48
type: Disease
mnemonic: COXPD48
comment: An autosomal recessive, mitochondrial encephalomyopathy characterized by global developmental delay, microcephaly, failure to thrive, hypotonia, muscle weakness, external ophthalmoplegia, and seizures. Laboratory studies show metabolic acidosis, increased serum lactate, and combined oxidative phosphorylation deficiency in skeletal muscle.

http://purl.uniprot.org/mim/619012
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 49
type: Disease
mnemonic: COXPD49
comment: An autosomal recessive, mitochondrial myopathy characterized by progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated serum creatine kinase, and deficiencies of multiple respiratory chain enzymes.

http://purl.uniprot.org/mim/619024
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 5
type: Disease
mnemonic: COXPD5
comment: A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia.

http://purl.uniprot.org/mim/611719
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 50
type: Disease
mnemonic: COXPD50
comment: An autosomal recessive, mitochondrial encephalomyopathy characterized by intrauterine growth retardation, poor overall growth, delayed psychomotor development, hypotonia, muscle weakness, progressive loss of ambulation, and mitochondrial oxidative phosphorylation deficiency in patient tissues. Brain imaging shows partial agenesis of the corpus callosum.

http://purl.uniprot.org/mim/619025
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 51
type: Disease
mnemonic: COXPD51
comment: An autosomal recessive, mitochondrial disorder characterized by intrauterine growth retardation, low birth weight, poor overall growth, progressive limb rigidity, delayed psychomotor development, hearing loss, and optic atrophy. Brain imaging shows abnormal bilateral signs at the basal ganglia and brainstem. Patient cells show decreased mitochondrial complex I and IV levels and activities, and generalized mitochondrial translation defects.

http://purl.uniprot.org/mim/619057
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 52
type: Disease
mnemonic: COXPD52
comment: An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria.

http://purl.uniprot.org/mim/619386
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 53
type: Disease
alternative label: Elbracht-Isikay syndrome
alternative label: Global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation
mnemonic: COXPD53
comment: An autosomal recessive mitochondrial disorder characterized by global developmental delay, hypomyelination, cerebral atrophy, microcephaly, liver dysfunction, and recurrent autoinflammation.

http://purl.uniprot.org/mim/619423
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 54
type: Disease
mnemonic: COXPD54
comment: An autosomal recessive, multisystem disorder with highly variable manifestations resulting from defective mitochondrial transcription and translation. Clinical features include early-onset sensorineural hearing loss, sometimes associated with global developmental delay or primary ovarian failure, peripheral hypertonia, seizures, muscle weakness, behavioral abnormalities, and leukoencephalopathy on brain imaging. Serum lactate may or may not be elevated.

http://purl.uniprot.org/mim/619737
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 55
type: Disease
mnemonic: COXPD55
comment: A mitochondrial disease characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia may be present in some patients. COXPD55 transmission pattern is consistent with autosomal dominant inheritance in some families, and with autosomal recessive inheritance in others.

http://purl.uniprot.org/mim/619743
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 56
type: Disease
mnemonic: COXPD56
comment: An autosomal recessive mitochondrial disease characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis.

http://purl.uniprot.org/mim/620139
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 57
type: Disease
mnemonic: COXPD57
comment: An autosomal recessive mitochondrial disease characterized by multisystemic features including encephalopathy, neurodevelopmental regression, ocular anomalies, decreased vision, auditory neuropathy, sensorineural hearing loss, and cardiac defects. Disease severity is variable, ranging from premature death in infancy to permanent disability in young adulthood.

http://purl.uniprot.org/mim/620167
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 6
type: Disease
alternative label: Encephalomyopathy mitochondrial X-linked
mnemonic: COXPD6
comment: A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.

http://purl.uniprot.org/mim/300816
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 7
type: Disease
mnemonic: COXPD7
comment: A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness.

http://purl.uniprot.org/mim/613559
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 8
type: Disease
alternative label: Cardiomyopathy hypertrophic mitochondrial fatal infantile
mnemonic: COXPD8
comment: A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected.

http://purl.uniprot.org/mim/614096
comment: phenotype
database: MIM

Combined oxidative phosphorylation deficiency 9
type: Disease
mnemonic: COXPD9
comment: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases.

http://purl.uniprot.org/mim/614582
comment: phenotype
database: MIM

Combined saposin deficiency
type: Disease
alternative label: Combined SAP deficiency
alternative label: Prosaposin deficiency
mnemonic: PSAPD
comment: An autosomal recessive storage disorder characterized by hepatosplenomegaly and severe neurologic disease, due to absence of all saposins. PSAPD has a fatal outcome in infancy.

http://purl.uniprot.org/mim/611721
comment: phenotype
database: MIM

Complement component 2 deficiency
type: Disease
alternative label: C2 deficiency
mnemonic: C2D
comment: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections.

http://purl.uniprot.org/mim/217000
comment: phenotype
database: MIM

Complement component 3 deficiency
type: Disease
alternative label: C3 deficiency autosomal recessive
alternative label: Complement component 3 deficiency autosomal recessive
mnemonic: C3D
comment: A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis.

http://purl.uniprot.org/mim/613779
comment: phenotype
database: MIM

Complement component 4A deficiency
type: Disease
alternative label: C4A deficiency
mnemonic: C4AD
comment: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.

http://purl.uniprot.org/mim/614380
comment: phenotype
database: MIM

Complement component 4B deficiency
type: Disease
alternative label: C4B deficiency
mnemonic: C4BD
comment: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis.

http://purl.uniprot.org/mim/614379
comment: phenotype
database: MIM

Complement component 5 deficiency
type: Disease
alternative label: C5 deficiency
mnemonic: C5D
comment: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

http://purl.uniprot.org/mim/609536
comment: phenotype
database: MIM

Complement component 6 deficiency
type: Disease
alternative label: C6 deficiency
alternative label: C6 deficiency subtotal
alternative label: Complement component 6 deficiency subtotal
mnemonic: C6D
comment: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

http://purl.uniprot.org/mim/612446
comment: phenotype
database: MIM

Complement component 7 deficiency
type: Disease
alternative label: C7 deficiency
mnemonic: C7D
comment: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

http://purl.uniprot.org/mim/610102
comment: phenotype
database: MIM

Complement component 8 deficiency, 1
type: Disease
alternative label: C8 alpha-gamma deficiency
alternative label: C8 deficiency type I
alternative label: Complement component 8 deficiency type I
mnemonic: C8D1
comment: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

http://purl.uniprot.org/mim/613790
comment: phenotype
database: MIM

Complement component 8 deficiency, 2
type: Disease
alternative label: C8 beta deficiency
alternative label: C8 deficiency type II
alternative label: Complement C8B deficiency
alternative label: Complement component 8 deficiency type II
mnemonic: C8D2
comment: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis.

http://purl.uniprot.org/mim/613789
comment: phenotype
database: MIM

Complement component 9 deficiency
type: Disease
alternative label: C9 deficiency
alternative label: C9 deficiency with dermatomyositis
mnemonic: C9D
comment: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis.

http://purl.uniprot.org/mim/613825
comment: phenotype
database: MIM

Complement component C1q deficiency
type: Disease
alternative label: C1q deficiency
mnemonic: C1QD
comment: A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.

http://purl.uniprot.org/mim/613652
comment: phenotype
database: MIM

Complement component C1s deficiency
type: Disease
alternative label: C1s deficiency
mnemonic: C1SD
comment: A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.

http://purl.uniprot.org/mim/613783
comment: phenotype
database: MIM

Complement factor B deficiency
type: Disease
alternative label: Factor B deficiency
mnemonic: CFBD
comment: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.

http://purl.uniprot.org/mim/615561
comment: phenotype
database: MIM

Complement factor D deficiency
type: Disease
alternative label: Factor D deficiency
mnemonic: CFDD
comment: An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway.

http://purl.uniprot.org/mim/613912
comment: phenotype
database: MIM

Complement factor H deficiency
type: Disease
alternative label: CFH deficiency
alternative label: Factor H deficiency
mnemonic: CFHD
comment: A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome.

http://purl.uniprot.org/mim/609814
comment: phenotype
database: MIM

Complement factor I deficiency
type: Disease
mnemonic: CFI deficiency
comment: Autosomal recessive condition associated with a propensity to pyogenic infections.

http://purl.uniprot.org/mim/610984
comment: phenotype
database: MIM

Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy
type: Disease
mnemonic: CHAPLE
comment: An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a.

http://purl.uniprot.org/mim/226300
comment: phenotype
database: MIM

Cone dystrophy 3
type: Disease
mnemonic: COD3
comment: An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

http://purl.uniprot.org/mim/602093
comment: phenotype
database: MIM

Cone dystrophy 4
type: Disease
mnemonic: COD4
comment: An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

Cone dystrophy 5
type: Disease
alternative label: Cone dystrophy 5 X-linked
mnemonic: COD5
comment: An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.

Cone dystrophy retinal 3B
type: Disease
alternative label: Cone dystrophy with night blindness and supernormal rod responses KCNV2-related
alternative label: Cone dystrophy with supernormal rod electroretinogram
mnemonic: RCD3B
comment: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.

http://purl.uniprot.org/mim/610356
comment: phenotype
database: MIM

Cone dystrophy, retinal 3A
type: Disease
alternative label: Cone dystrophy with night blindness and supernormal rod responses
alternative label: Cone dystrophy with supernormal rod electroretinogram
mnemonic: RCD3A
comment: A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.

http://purl.uniprot.org/mim/610024
comment: phenotype
database: MIM

Cone-rod dystrophy 10
type: Disease
mnemonic: CORD10
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/610283
comment: phenotype
database: MIM

Cone-rod dystrophy 11
type: Disease
mnemonic: CORD11
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/610381
comment: phenotype
database: MIM

Cone-rod dystrophy 12
type: Disease
mnemonic: CORD12
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/612657
comment: phenotype
database: MIM

Cone-rod dystrophy 13
type: Disease
mnemonic: CORD13
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/608194
comment: phenotype
database: MIM

Cone-rod dystrophy 14
type: Disease
mnemonic: CORD14
comment: An autosomal dominant form of cone-rod dystrophy, a retinal disease characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Cone-rod dystrophy 15
type: Disease
mnemonic: CORD15
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/613660
comment: phenotype
database: MIM

Cone-rod dystrophy 16
type: Disease
alternative label: Retinal dystrophy with early macular involvement
mnemonic: CORD16
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/614500
comment: phenotype
database: MIM

Cone-rod dystrophy 18
type: Disease
mnemonic: CORD18
comment: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/615374
comment: phenotype
database: MIM

Cone-rod dystrophy 19
type: Disease
mnemonic: CORD19
comment: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/615860
comment: phenotype
database: MIM

Cone-rod dystrophy 2
type: Disease
alternative label: Cone-rod retinal dystrophy 2
alternative label: CRD2
mnemonic: CORD2
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/120970
comment: phenotype
database: MIM

Cone-rod dystrophy 20
type: Disease
mnemonic: CORD20
comment: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/615973
comment: phenotype
database: MIM

Cone-rod dystrophy 21
type: Disease
alternative label: Retinal dystrophy with early macular involvement
mnemonic: CORD21
comment: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/616502
comment: phenotype
database: MIM

Cone-rod dystrophy 22
type: Disease
mnemonic: CORD22
comment: An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/619531
comment: phenotype
database: MIM

Cone-rod dystrophy 3
type: Disease
mnemonic: CORD3
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/604116
comment: phenotype
database: MIM

Cone-rod dystrophy 5
type: Disease
mnemonic: CORD5
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/600977
comment: phenotype
database: MIM

Cone-rod dystrophy 6
type: Disease
mnemonic: CORD6
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/601777
comment: phenotype
database: MIM

Cone-rod dystrophy 7
type: Disease
mnemonic: CORD7
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/603649
comment: phenotype
database: MIM

Cone-rod dystrophy 9
type: Disease
mnemonic: CORD9
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/612775
comment: phenotype
database: MIM

Cone-rod dystrophy and hearing loss 1
type: Disease
mnemonic: CRDHL1
comment: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/617236
comment: phenotype
database: MIM

Cone-rod dystrophy and hearing loss 2
type: Disease
mnemonic: CRDHL2
comment: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/618358
comment: phenotype
database: MIM

Cone-rod dystrophy, X-linked 1
type: Disease
alternative label: COD1
alternative label: Cone dystrophy X-linked 1
mnemonic: CORDX1
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. In cone-rod dystrophy X-linked type 1 the degree of rod-photoreceptor involvement can be variable, with degeneration increasing as the disease progresses. Affected individuals (essentially all of whom are males) present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset and severity of symptoms.

http://purl.uniprot.org/mim/304020
comment: phenotype
database: MIM

Cone-rod dystrophy, X-linked 3
type: Disease
mnemonic: CORDX3
comment: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

http://purl.uniprot.org/mim/300476
comment: phenotype
database: MIM

Cone-rod synaptic disorder syndrome, congenital non-progressive
type: Disease
mnemonic: CRSDS
comment: An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis.

http://purl.uniprot.org/mim/618970
comment: phenotype
database: MIM

Cone-rod synaptic disorder, congenital non-progressive
type: Disease
alternative label: CSNB2B
alternative label: Incomplete autosomal recessive CSNB
alternative label: Incomplete congenital stationary night blindness autosomal recessive
alternative label: Night blindness, congenital stationary, 2B
mnemonic: CRSD
comment: A non-progressive retinal disorder characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness.

http://purl.uniprot.org/mim/610427
comment: phenotype
database: MIM

Congenital afibrinogenemia
type: Disease
mnemonic: CAFBN
comment: Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.

http://purl.uniprot.org/mim/202400
comment: phenotype
database: MIM

Congenital amegakaryocytic thrombocytopenia
type: Disease
mnemonic: CAMT
comment: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies.

http://purl.uniprot.org/mim/604498
comment: phenotype
database: MIM

Congenital anomalies of kidney and urinary tract 2
type: Disease
alternative label: Hydronephrosis due to PUJO
alternative label: MCRD
alternative label: Multicystic renal dysplasia, bilateral
alternative label: Pelviureteric junction obstruction
alternative label: PUJO
alternative label: UPJO
alternative label: Ureteropelvic junction obstruction
mnemonic: CAKUT2
comment: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

http://purl.uniprot.org/mim/143400
comment: phenotype
database: MIM

Congenital anomalies of kidney and urinary tract 3
type: Disease
mnemonic: CAKUT3
comment: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children. CAKUT3 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618270
comment: phenotype
database: MIM

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
type: Disease
mnemonic: CAKUTHED
comment: An autosomal dominant disorder characterized by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay.

http://purl.uniprot.org/mim/617641
comment: phenotype
database: MIM

Congenital anomalies of the kidney and urinary tract 1
type: Disease
alternative label: Non-syndromic renal hypodysplasia 1
alternative label: Renal hypodysplasia, nonsyndromic, 1
alternative label: RHDNS1
mnemonic: CAKUT1
comment: A disorder encompassing a broad spectrum of renal and urinary tract malformations that include renal agenesis, kidney hypodysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. Congenital anomalies of kidney and urinary tract are the commonest cause of chronic kidney disease in children.

http://purl.uniprot.org/mim/610805
comment: phenotype
database: MIM

Congenital arthrogryposis with anterior horn cell disease
type: Disease
alternative label: LAAHD
alternative label: Lethal arthrogryposis with anterior horn cell disease
mnemonic: CAAHD
comment: An autosomal recessive disorder characterized by fetal akinesia, arthrogryposis and motor neuron loss. The fetus often survives delivery, but dies early as a result of respiratory failure. Neuropathological findings resemble those of lethal congenital contracture syndrome type 1, but are less severe.

http://purl.uniprot.org/mim/611890
comment: phenotype
database: MIM

Congenital bilateral absence of the vas deferens
type: Disease
alternative label: CAVD
mnemonic: CBAVD
comment: An autosomal recessive disease characterized by vas deferens aplasia resulting in azoospermia and male infertility. CBAVD may occur in isolation or as a manifestation of cystic fibrosis.

http://purl.uniprot.org/mim/277180
comment: phenotype
database: MIM

Congenital bilateral aplasia of the vas deferens, X-linked
type: Disease
mnemonic: CBAVDX
comment: A disease characterized by bilateral absence of vas deferens, obstructive azoospermia, and infertility.

http://purl.uniprot.org/mim/300985
comment: phenotype
database: MIM

Congenital bile acid synthesis defect 1
type: Disease
alternative label: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
alternative label: Neonatal progressive intrahepatic cholestasis
alternative label: PFIC4
alternative label: Progressive familial intrahepatic cholestasis type 4
mnemonic: CBAS1
comment: A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis.

http://purl.uniprot.org/mim/607765
comment: phenotype
database: MIM

Congenital bile acid synthesis defect 2
type: Disease
alternative label: Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
mnemonic: CBAS2
comment: A condition characterized by jaundice, intrahepatic cholestasis and hepatic failure. Patients with this liver disease show absence or low levels of chenodeoxycholic acid and cholic acid in plasma and urine.

http://purl.uniprot.org/mim/235555
comment: phenotype
database: MIM

Congenital bile acid synthesis defect 3
type: Disease
mnemonic: CBAS3
comment: A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable.

http://purl.uniprot.org/mim/613812
comment: phenotype
database: MIM

Congenital bile acid synthesis defect 4
type: Disease
alternative label: Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
alternative label: Trihydroxycoprostanic acid in bile
mnemonic: CBAS4
comment: A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency.

http://purl.uniprot.org/mim/214950
comment: phenotype
database: MIM

Congenital bile acid synthesis defect 5
type: Disease
mnemonic: CBAS5
comment: An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma.

http://purl.uniprot.org/mim/616278
comment: phenotype
database: MIM

Congenital bile acid synthesis defect 6
type: Disease
mnemonic: CBAS6
comment: An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance.

http://purl.uniprot.org/mim/617308
comment: phenotype
database: MIM

Congenital cataracts, facial dysmorphism, and neuropathy
type: Disease
mnemonic: CCFDN
comment: An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures).

http://purl.uniprot.org/mim/604168
comment: phenotype
database: MIM

Congenital cataracts, hearing loss, and neurodegeneration
type: Disease
mnemonic: CCHLND
comment: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination.

http://purl.uniprot.org/mim/614482
comment: phenotype
database: MIM

Congenital contractures of the limbs and face, hypotonia, and developmental delay
type: Disease
mnemonic: CLIFAHDD
comment: A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay.

http://purl.uniprot.org/mim/616266
comment: phenotype
database: MIM

Congenital disorder of deglycosylation 1
type: Disease
alternative label: CDDG
alternative label: CDG1V
alternative label: CDGIv
alternative label: CDG Iv
alternative label: CDG-Iv
alternative label: Congenital disorder of deglycosylation
alternative label: Congenital disorder of glycosylation 1V
alternative label: Congenital disorder of glycosylation type Iv
mnemonic: CDDG1
comment: An autosomal recessive multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles.

http://purl.uniprot.org/mim/615273
comment: phenotype
database: MIM

Congenital disorder of deglycosylation 2
type: Disease
mnemonic: CDDG2
comment: An autosomal recessive disorder characterized by facial dysmorphism, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis.

http://purl.uniprot.org/mim/619775
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1A
type: Disease
alternative label: Carbohydrate-deficient glycoprotein syndrome type Ia
alternative label: CDGIa
alternative label: CDG Ia
alternative label: CDG-Ia
alternative label: CDGS1A
alternative label: Congenital disorder of glycosylation type Ia
alternative label: Jaeken's syndrome
alternative label: Jaeken syndrome
alternative label: Phosphomannomutase 2 deficiency
alternative label: PMM2 deficiency
mnemonic: CDG1A
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism.

http://purl.uniprot.org/mim/212065
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1AA
type: Disease
alternative label: Congenital disorder of glycosylation, type 1aa
mnemonic: CDG1AA
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive.

http://purl.uniprot.org/mim/617082
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1B
type: Disease
alternative label: Carbohydrate-deficient glycoprotein syndrome type Ib
alternative label: CDG gastrointestinal type
alternative label: CDGIb
alternative label: CDG Ib
alternative label: CDG-Ib
alternative label: CDGS1B
alternative label: Congenital disorder of glycosylation type Ib
alternative label: Mannosephosphate isomerase deficiency
alternative label: MPI deficiency
alternative label: Protein-losing enteropathy-hepatic fibrosis syndrome
alternative label: Saguenay-Lac Saint-Jean syndrome
alternative label: SLSJ syndrome
mnemonic: CDG1B
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy.

http://purl.uniprot.org/mim/602579
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1BB
type: Disease
mnemonic: CDG1BB
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1BB inheritance is autosomal recessive.

http://purl.uniprot.org/mim/613861
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1C
type: Disease
alternative label: Carbohydrate-deficient glycoprotein syndrome type V
alternative label: CDGS5
mnemonic: CDG1C
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/603147
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1CC
type: Disease
alternative label: Congenital disorder of glycosylation, type Icc
mnemonic: CDG1CC
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability.

http://purl.uniprot.org/mim/301031
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1D
type: Disease
alternative label: Carbohydrate-deficient glycoprotein syndrome type IV
alternative label: CDGS4
mnemonic: CDG1D
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/601110
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1E
type: Disease
mnemonic: CDG1E
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy.

http://purl.uniprot.org/mim/608799
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1F
type: Disease
alternative label: CDGIf
alternative label: CDG If
alternative label: CDG-If
alternative label: Congenital disorder of glycosylation type If
mnemonic: CDG1F
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/609180
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1G
type: Disease
alternative label: CDGIg
alternative label: CDG Ig
alternative label: CDG-Ig
alternative label: Congenital disorder of glycosylation type Ig
mnemonic: CDG1G
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/607143
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1H
type: Disease
alternative label: CDGIh
alternative label: CDG Ih
alternative label: CDG-Ih
alternative label: Congenital disorder of glycosylation type Ih
mnemonic: CDG1H
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/608104
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1I
type: Disease
alternative label: CDGIi
alternative label: CDG Ii
alternative label: CDG-Ii
alternative label: Congenital disorder of glycosylation type Ii
mnemonic: CDG1I
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/607906
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1J
type: Disease
alternative label: CDGIj
alternative label: CDG Ij
alternative label: CDG-Ij
alternative label: Congenital disorder of glycosylation type Ij
mnemonic: CDG1J
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/608093
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1K
type: Disease
alternative label: CDGIk
alternative label: CDG Ik
alternative label: CDG-Ik
alternative label: Congenital disorder of glycosylation type Ik
mnemonic: CDG1K
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/608540
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1L
type: Disease
alternative label: CDGIl
alternative label: CDG Il
alternative label: CDG-Il
alternative label: Congenital disorder of glycosylation type Il
mnemonic: CDG1L
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/608776
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1M
type: Disease
alternative label: CDGIm
alternative label: CDG Im
alternative label: CDG-Im
alternative label: Congenital disorder of glycosylation type Im
alternative label: DK1 deficiency
alternative label: Dolichol kinase deficiency
mnemonic: CDG1M
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1M is a very severe disease with death occurring in early life.

http://purl.uniprot.org/mim/610768
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1N
type: Disease
alternative label: CDGIn
alternative label: CDG In
alternative label: CDG-In
alternative label: Congenital disorder of glycosylation type In
mnemonic: CDG1N
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/612015
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1P
type: Disease
alternative label: CDGIp
alternative label: CDG Ip
alternative label: CDG-Ip
alternative label: Congenital disorder of glycosylation type Ip
mnemonic: CDG1P
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/613661
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1Q
type: Disease
alternative label: CDGIq
alternative label: CDG Iq
alternative label: CDG-Iq
alternative label: Congenital disorder of glycosylation 1q
alternative label: Congenital disorder of glycosylation type Iq
alternative label: Ocular coloboma ichthyosis brain malformations and endocrine abnormalities
mnemonic: CDG1Q
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/612379
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1R
type: Disease
alternative label: CDGIr
alternative label: CDG Ir
alternative label: CDG-Ir
alternative label: Congenital disorder of glycosylation 1r
alternative label: Congenital disorder of glycosylation type Ir
mnemonic: CDG1R
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/614507
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1T
type: Disease
alternative label: CDGIt
alternative label: CDG It
alternative label: CDG-It
alternative label: Congenital disorder of glycosylation type It
alternative label: Glycogen storage disease XIV
alternative label: GSD14
alternative label: GSD XIV
alternative label: PGM1 deficiency
alternative label: Phosphoglucomutase 1 deficiency
mnemonic: CDG1T
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/614921
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1U
type: Disease
alternative label: CDGIu
alternative label: CDG Iu
alternative label: CDG-Iu
alternative label: Congenital disorder of glycosylation type Iu
mnemonic: CDG1U
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan.

http://purl.uniprot.org/mim/615042
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1W, autosomal dominant
type: Disease
alternative label: Congenital disorder of glycosylation, type Iw, autosomal dominant
mnemonic: CDG1WAD
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1WAD patients show variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features. Some have impaired intellectual development. Additional features include increased muscle tone and muscle cramps.

http://purl.uniprot.org/mim/619714
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1W, autosomal recessive
type: Disease
mnemonic: CDG1WAR
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/615596
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1X
type: Disease
alternative label: CDGIx
alternative label: CDG Ix
alternative label: CDG-Ix
alternative label: Congenital disorder of glycosylation type Ix
mnemonic: CDG1X
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/615597
comment: phenotype
database: MIM

Congenital disorder of glycosylation 1Y
type: Disease
alternative label: CDGIy
alternative label: CDG Iy
alternative label: CDG-Iy
alternative label: Congenital disorder of glycosylation type Iy
mnemonic: CDG1Y
comment: A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/300934
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2A
type: Disease
alternative label: Carbohydrate-deficient glycoprotein syndrome type II
alternative label: CDGIIa
alternative label: CDG IIa
alternative label: CDG-IIa
alternative label: CDGS type II
alternative label: Congenital disorder of glycosylation type IIa
mnemonic: CDG2A
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/212066
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2C
type: Disease
alternative label: CDGIIc
alternative label: CDG IIc
alternative label: CDG-IIc
alternative label: Congenital disorder of glycosylation type IIc
alternative label: LAD2
alternative label: Leukocyte adhesion deficiency type II
mnemonic: CDG2C
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands.

http://purl.uniprot.org/mim/266265
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2D
type: Disease
alternative label: CDGIId
alternative label: CDG IId
alternative label: CDG-IId
alternative label: Congenital disorder of glycosylation type IId
mnemonic: CDG2D
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/607091
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2E
type: Disease
alternative label: CDGIIe
alternative label: CDG IIe
alternative label: CDG-IIe
alternative label: Congenital disorder of glycosylation type IIe
mnemonic: CDG2E
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/608779
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2F
type: Disease
alternative label: CDGIIf
alternative label: CDG IIf
alternative label: CDG-IIf
alternative label: Congenital disorder of glycosylation type IIf
mnemonic: CDG2F
comment: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/603585
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2G
type: Disease
alternative label: CDG-II caused by Cog1 deficiency
alternative label: CDGIIg
alternative label: CDG IIg
alternative label: CDG-IIg
alternative label: Congenital disorder of glycosylation type IIg
mnemonic: CDG2G
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation.

http://purl.uniprot.org/mim/611209
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2H
type: Disease
alternative label: CDGIIh
alternative label: CDG IIh
alternative label: CDG-IIh
alternative label: Congenital disorder of glycosylation type IIh
mnemonic: CDG2H
comment: CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/611182
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2I
type: Disease
alternative label: CDGIIi
alternative label: CDG IIi
alternative label: CDG-IIi
alternative label: Congenital disorder of glycosylation type IIi
mnemonic: CDG2I
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments.

http://purl.uniprot.org/mim/613612
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2J
type: Disease
alternative label: CDGIIj
alternative label: CDG IIj
alternative label: CDG-IIj
alternative label: Congenital disorder of glycosylation type IIj
mnemonic: CDG2J
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/613489
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2K
type: Disease
alternative label: CDGIIk
alternative label: CDG IIk
alternative label: CDG-IIk
alternative label: Congenital disorder of glycosylation type IIk
mnemonic: CDG2K
comment: An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/614727
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2L
type: Disease
alternative label: CDGIIl
alternative label: CDG IIl
alternative label: CDG-IIl
alternative label: Congenital disorder of glycosylation type IIl
mnemonic: CDG2L
comment: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy.

http://purl.uniprot.org/mim/614576
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2M
type: Disease
alternative label: CDGIIm
alternative label: CDG IIm
alternative label: CDG-IIm
alternative label: Congenital disorder of glycosylation type IIm
alternative label: Congenital disorder of glycosylation X-linked
alternative label: DEE22
alternative label: Developmental and epileptic encephalopathy 22
alternative label: EIEE22
alternative label: Epileptic encephalopathy, early infantile, 22
mnemonic: CDG2M
comment: An X-linked dominant, severe neurologic disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/300896
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2N
type: Disease
alternative label: CDGIIn
alternative label: CDG IIn
alternative label: CDG-IIn
alternative label: Congenital disorder of glycosylation, type IIn
mnemonic: CDG2N
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.

http://purl.uniprot.org/mim/616721
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2O
type: Disease
alternative label: CDGIIo
alternative label: CDG IIo
alternative label: CDG-IIo
alternative label: Congenital disorder of glycosylation, type IIo
mnemonic: CDG2O
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability.

http://purl.uniprot.org/mim/616828
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2P
type: Disease
alternative label: CDGIIp
alternative label: CDG IIp
alternative label: CDG-IIp
alternative label: Congenital disorder of glycosylation, type IIp
mnemonic: CDG2P
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal.

http://purl.uniprot.org/mim/616829
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2Q
type: Disease
alternative label: CDGIIq
alternative label: CDG IIq
alternative label: CDG-IIq
alternative label: Congenital disorder of glycosylation, type IIq
mnemonic: CDG2Q
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance.

http://purl.uniprot.org/mim/617395
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2R
type: Disease
alternative label: Congenital disorder of glycosylation, type IIr
mnemonic: CDG2R
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2R is an X-linked recessive disorder characterized by infantile onset of liver failure, recurrent infections due to hypogammaglobulinemia, and cutis laxa. Some patients may also have mild intellectual impairment and dysmorphic features.

http://purl.uniprot.org/mim/301045
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2T
type: Disease
alternative label: CDGIIt
alternative label: CDG IIt
alternative label: Congenital disorder of glycosylation, type IIt
mnemonic: CDG2T
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2T is an autosomal recessive form characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioral abnormalities, epilepsy, chronic insomnia, white matter changes on brain imaging, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels.

http://purl.uniprot.org/mim/618885
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2V
type: Disease
alternative label: Congenital disorder of glycosylation, type 2V
mnemonic: CDG2V
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2V is an autosomal recessive form characterized by neurodevelopmental delay and variable facial dysmorphic features.

http://purl.uniprot.org/mim/619493
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2W
type: Disease
alternative label: Congenital disorder of glycosylation, type IIw
mnemonic: CDG2W
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2W is an autosomal dominant disorder characterized by liver dysfunction and coagulation deficiencies.

http://purl.uniprot.org/mim/619525
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2Y
type: Disease
alternative label: Congenital disorder of glycosylation, type IIy
mnemonic: CDG2Y
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Y is an autosomal recessive form characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects.

http://purl.uniprot.org/mim/620200
comment: phenotype
database: MIM

Congenital disorder of glycosylation 2Z
type: Disease
alternative label: Congenital disorder of glycosylation, type IIz
mnemonic: CDG2Z
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Z is an autosomal recessive form characterized by a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, CDG2Z is characterized by combined O- and N-linked glycosylation defects.

http://purl.uniprot.org/mim/620201
comment: phenotype
database: MIM

Congenital disorder of glycosylation with defective fucosylation 1
type: Disease
mnemonic: CDGF1
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDGF1 is an autosomal recessive disorder, apparent from birth, characterized by poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability.

http://purl.uniprot.org/mim/618005
comment: phenotype
database: MIM

Congenital disorder of glycosylation with defective fucosylation 2
type: Disease
mnemonic: CDGF2
comment: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia.

http://purl.uniprot.org/mim/618324
comment: phenotype
database: MIM

Congenital erythropoietic porphyria
type: Disease
alternative label: Gunther disease
mnemonic: CEP
comment: Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.

http://purl.uniprot.org/mim/263700
comment: phenotype
database: MIM

Congenital generalized lipodystrophy 1
type: Disease
alternative label: Berardinelli-Seip congenital lipodystrophy type 1
alternative label: Berardinelli-Seip syndrome
alternative label: Brunzell syndrome AGPAT2-related
alternative label: BSCL1
alternative label: Lipoatrophic diabetes
alternative label: Lipodystrophy Berardinelli type
alternative label: Total lipodystrophy and acromegaloid gigantism
mnemonic: CGL1
comment: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

http://purl.uniprot.org/mim/608594
comment: phenotype
database: MIM

Congenital generalized lipodystrophy 2
type: Disease
alternative label: Berardinelli-Seip congenital lipodystrophy type 2
alternative label: Berardinelli-Seip syndrome
alternative label: Brunzell syndrome BSCL2-related
alternative label: Lipoatrophic diabetes
alternative label: Lipodystrophy Berardinelli type
alternative label: Total lipodystrophy and acromegaloid gigantism
mnemonic: CGL2
comment: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

http://purl.uniprot.org/mim/269700
comment: phenotype
database: MIM

Congenital generalized lipodystrophy 3
type: Disease
alternative label: Berardinelli-Seip congenital lipodystrophy type 3
alternative label: BSCL3
mnemonic: CGL3
comment: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

http://purl.uniprot.org/mim/612526
comment: phenotype
database: MIM

Congenital generalized lipodystrophy 4
type: Disease
alternative label: Berardinelli-Seip congenital lipodystrophy type 4
alternative label: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
mnemonic: CGL4
comment: A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

http://purl.uniprot.org/mim/613327
comment: phenotype
database: MIM

Congenital glucose/galactose malabsorption
type: Disease
mnemonic: GGM
comment: Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet.

http://purl.uniprot.org/mim/606824
comment: phenotype
database: MIM

Congenital heart defects and ectodermal dysplasia
type: Disease
mnemonic: CHDED
comment: An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation.

http://purl.uniprot.org/mim/617364
comment: phenotype
database: MIM

Congenital heart defects and skeletal malformations syndrome
type: Disease
mnemonic: CHDSKM
comment: An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity.

http://purl.uniprot.org/mim/617602
comment: phenotype
database: MIM

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
type: Disease
mnemonic: CHDFIDD
comment: An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility.

http://purl.uniprot.org/mim/617360
comment: phenotype
database: MIM

Congenital heart defects, hamartomas of tongue, and polysyndactyly
type: Disease
mnemonic: CHDTHP
comment: A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta.

http://purl.uniprot.org/mim/217085
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 1, X-linked
type: Disease
alternative label: X-linked congenital heart defects nonsyndromic 1
alternative label: X-linked congenital heart disease nonsyndromic 1
mnemonic: CHTD1
comment: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.

http://purl.uniprot.org/mim/306955
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 2
type: Disease
alternative label: Congenital heart defects non-syndromic 2
mnemonic: CHTD2
comment: A disease characterized by congenital developmental abnormalities involving structures of the heart. CHTD2 patients have left ventricular outflow tract obstruction, subaortic stenosis, residual aortic regurgitation, atrial fibrillation, bicuspid aortic valve and aortic dilation.

http://purl.uniprot.org/mim/614980
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 4
type: Disease
mnemonic: CHTD4
comment: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.

http://purl.uniprot.org/mim/615779
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 5
type: Disease
mnemonic: CHTD5
comment: A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, patent ductus arteriosus, and tetralogy of Fallot. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions. CHTD5 inheritance can be autosomal dominant or recessive.

http://purl.uniprot.org/mim/617912
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 6
type: Disease
alternative label: DTGA3
alternative label: Transposition of the great arteries, dextro-looped 3
mnemonic: CHTD6
comment: An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, transposition of the great arteries, double-outlet right ventricle, total anomalous pulmonary venous return, pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect, and hypoplastic left or right ventricle.

http://purl.uniprot.org/mim/613854
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 7
type: Disease
mnemonic: CHTD7
comment: An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries.

http://purl.uniprot.org/mim/618780
comment: phenotype
database: MIM

Congenital heart defects, multiple types, 8, with or without heterotaxy
type: Disease
mnemonic: CHTD8
comment: An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common CHTD8 features include double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies. Vascular anomalies include dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation.

http://purl.uniprot.org/mim/619657
comment: phenotype
database: MIM

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
type: Disease
mnemonic: CHILD
comment: An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.

http://purl.uniprot.org/mim/308050
comment: phenotype
database: MIM

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
type: Disease
mnemonic: CHEDDA
comment: An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities.

http://purl.uniprot.org/mim/618494
comment: phenotype
database: MIM

Congenital insensitivity to pain with anhidrosis
type: Disease
alternative label: Familial dysautonomia, type II
alternative label: Hereditary sensory and autonomic neuropathy IV
alternative label: HSAN4
alternative label: HSAN IV
alternative label: Neuropathy, congenital sensory, with anhidrosis
mnemonic: CIPA
comment: Characterized by a congenital insensitivity to pain, anhidrosis (absence of sweating), absence of reaction to noxious stimuli, self-mutilating behavior, and intellectual disability. This rare autosomal recessive disorder is also known as congenital sensory neuropathy with anhidrosis or hereditary sensory and autonomic neuropathy type IV or familial dysautonomia type II.

http://purl.uniprot.org/mim/256800
comment: phenotype
database: MIM

Congenital lactase deficiency
type: Disease
alternative label: Disaccharide intolerance II
alternative label: Hereditary alactasia
mnemonic: COLACD
comment: Autosomal recessive, rare and severe gastrointestinal disorder. It is characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas. An almost total lack of LCT activity is found in jejunal biopsy material of patients with congenital lactase deficiency. Opposite to congenital lactase deficiency, also known as lactose intolerance, is the most common enzyme deficiency worldwide. It is caused by developmental down-regulation of lactase activity during childhood or early adulthood. The decline of lactase activity is a normal physiological phenomenon; however, the majority of Northern Europeans have the ability to maintain lactase activity and digest lactose throughout life (lactase persistence). The down-regulation of lactase activity operates at the transcriptional level and it is associated with a noncoding variation in the MCM6 gene, located in the upstream vicinity of LCT.

http://purl.uniprot.org/mim/223000
comment: phenotype
database: MIM

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
type: Disease
alternative label: CLOVES syndrome
alternative label: CLOVE syndrome
alternative label: Congenital lipomatous overgrowth vascular malformations epidermal nevi and skeletal/spinal abnormalities
mnemonic: CLOVE
comment: A sporadically occurring, non-hereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. It is defined by four main clinical findings: congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities. The presence of truncal overgrowth and characteristic patterned macrodactyly at birth differentiates CLOVE from other syndromic forms of overgrowth.

http://purl.uniprot.org/mim/612918
comment: phenotype
database: MIM

Congenital myopathy with excess of muscle spindles
type: Disease
mnemonic: CMEMS
comment: Variant of Costello syndrome.

http://purl.uniprot.org/mim/218040
comment: phenotype
database: MIM

Congenital short bowel syndrome
type: Disease
alternative label: Congenital short bowel and malrotation syndrome
alternative label: CSBM
mnemonic: CSBS
comment: A disease characterized by a shortened small intestine, intestinal malrotation, and malabsorption. The mean length of the small intestine in CSBS patients is approximately 50 cm, compared with a normal length at birth of 190-280 cm. Patients with CSBS may develop severe malnutrition as a result of the hugely reduced absorptive surface of the small intestine. Infants require parenteral nutrition for survival. However, parenteral nutrition itself causes life-threatening complications such as sepsis and liver failure which are associated with a high rate of mortality early in life.

http://purl.uniprot.org/mim/615237
comment: phenotype
database: MIM

Congenital short bowel syndrome, X-linked
type: Disease
mnemonic: CSBSX
comment: A disease characterized by a shortened small intestine, and malabsorption. The mean length of the small intestine in affected individuals is approximately 50 cm, compared with a normal length at birth of 190-280 cm. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea.

http://purl.uniprot.org/mim/300048
comment: phenotype
database: MIM

Congenital sucrase-isomaltase deficiency
type: Disease
alternative label: Disaccharide intolerance I
mnemonic: CSID
comment: Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.

http://purl.uniprot.org/mim/222900
comment: phenotype
database: MIM

Congenital systemic glutamine deficiency
type: Disease
alternative label: Glutamine deficiency, congenital
alternative label: Glutamine synthase deficiency, congenital systemic
mnemonic: CSGD
comment: Rare developmental disorder with severe brain malformation resulting in multi-organ failure and neonatal death. Glutamine is largely absent from affected patients serum, urine and cerebrospinal fluid.

http://purl.uniprot.org/mim/610015
comment: phenotype
database: MIM

Conotruncal heart malformations
type: Disease
alternative label: CAFS
alternative label: Common arterial trunk
alternative label: Conotruncal anomaly face syndrome
alternative label: Conotruncal heart defects
alternative label: CTHD
alternative label: DORV
alternative label: Double-outlet right ventricle
alternative label: Persistent truncus arteriosus
alternative label: PTA
alternative label: TAC
alternative label: Truncus arteriosus communis
mnemonic: CTHM
comment: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.

http://purl.uniprot.org/mim/217095
comment: phenotype
database: MIM

Contractural arachnodactyly, congenital
type: Disease
alternative label: Arthrogryposis, distal, type 9
alternative label: Beals syndrome
alternative label: CCA
alternative label: Congenital contractural arachnodactyly
alternative label: DA9
mnemonic: CCA
comment: An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.

http://purl.uniprot.org/mim/121050
comment: phenotype
database: MIM

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
type: Disease
alternative label: Arthrogryposis, distal, type 8
alternative label: DA8
alternative label: Multiple pterygium syndrome, autosomal dominant
alternative label: Pterygium syndrome, multiple, autosomal dominant
mnemonic: CPSFS1A
comment: An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.

http://purl.uniprot.org/mim/178110
comment: phenotype
database: MIM

Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
type: Disease
mnemonic: CPSFS1B
comment: An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed.

http://purl.uniprot.org/mim/618469
comment: phenotype
database: MIM

Convulsions, familial infantile, with paroxysmal choreoathetosis
type: Disease
alternative label: Familial infantile convulsions and paroxysmal choreoathetosis
alternative label: ICCA syndrome paroxysmal kinesigenic dyskinesia with infantile convulsions
alternative label: PKD/IC
mnemonic: ICCA
comment: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.

http://purl.uniprot.org/mim/602066
comment: phenotype
database: MIM

Cornea plana 2, autosomal recessive
type: Disease
alternative label: Cornea plana congenita, recessive
mnemonic: CNA2
comment: A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea.

http://purl.uniprot.org/mim/217300
comment: phenotype
database: MIM

Corneal dystrophy and perceptive deafness
type: Disease
alternative label: CDPD1
alternative label: Corneal dystrophy and sensorineural deafness
alternative label: Corneal endothelial dystrophy and perceptive deafness
alternative label: Harboyan syndrome
mnemonic: CDPD
comment: An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.

http://purl.uniprot.org/mim/217400
comment: phenotype
database: MIM

Corneal dystrophy, Avellino type
type: Disease
alternative label: ACD
alternative label: Avellino corneal dystrophy
alternative label: CGD2
alternative label: Combined granular-lattice corneal dystrophy
alternative label: Granular corneal dystrophy type II
mnemonic: CDA
comment: A corneal disease resulting in reduced visual acuity and characterized by gray, crumb-like granular deposits in the anterior third of the stroma in each corneal button. Fusiform amyloid deposits, histochemically and morphologically identical to those of lattice corneal dystrophy, are found in the deeper stroma. Additional features include recurrent corneal erosions, and glare and decreased night vision.

http://purl.uniprot.org/mim/607541
comment: phenotype
database: MIM

Corneal dystrophy, congenital stromal
type: Disease
mnemonic: CSCD
comment: A corneal dystrophy characterized by congenital corneal opacification consisting of a large number of flakes and spots throughout all layers of the stroma. It results in progressive, painless visual loss. Corneal erosions and photophobia are absent.

http://purl.uniprot.org/mim/610048
comment: phenotype
database: MIM

Corneal dystrophy, epithelial basement membrane
type: Disease
alternative label: Anterior basement membrane corneal dystrophy
alternative label: Cogan corneal dystrophy
alternative label: Map-dot-fingerprint type corneal dystrophy
alternative label: Microcystic corneal dystrophy
mnemonic: EBMD
comment: A bilateral anterior corneal dystrophy characterized by grayish epithelial fingerprint lines, geographic map-like lines, and dots (or microcysts) on slit-lamp examination. Pathologic studies show abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.

http://purl.uniprot.org/mim/121820
comment: phenotype
database: MIM

Corneal dystrophy, fleck
type: Disease
alternative label: Corneal dystrophy Francois-Neetens speckled or flecked
alternative label: FCD
alternative label: Fleck corneal dystrophy
mnemonic: CFD
comment: A form of stromal corneal dystrophy characterized by numerous small white flecks scattered in all levels of the stroma, with configurations varying from semicircular to wreath-like, curvilinear, or punctate. Although CFD may occasionally cause mild photophobia, patients are typically asymptomatic and have normal vision.

http://purl.uniprot.org/mim/121850
comment: phenotype
database: MIM

Corneal dystrophy, Fuchs endothelial, 1
type: Disease
alternative label: Corneal dystrophy Fuchs endothelial early-onset
alternative label: Fuchs dystrophy
mnemonic: FECD1
comment: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

http://purl.uniprot.org/mim/136800
comment: phenotype
database: MIM

Corneal dystrophy, Fuchs endothelial, 3
type: Disease
alternative label: Fuchs endothelial corneal dystrophy, late-onset
mnemonic: FECD3
comment: A late-onset form of Fuchs endothelial corneal dystrophy, a disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

http://purl.uniprot.org/mim/613267
comment: phenotype
database: MIM

Corneal dystrophy, Fuchs endothelial, 4
type: Disease
alternative label: Corneal dystrophy Fuchs endothelial late-onset
alternative label: Fuchs dystrophy late-onset
mnemonic: FECD4
comment: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

http://purl.uniprot.org/mim/613268
comment: phenotype
database: MIM

Corneal dystrophy, Fuchs endothelial, 6
type: Disease
alternative label: Corneal dystrophy Fuchs endothelial late-onset
alternative label: Fuchs dystrophy late-onset
mnemonic: FECD6
comment: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

http://purl.uniprot.org/mim/613270
comment: phenotype
database: MIM

Corneal dystrophy, Fuchs endothelial, 8
type: Disease
mnemonic: FECD8
comment: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition.

http://purl.uniprot.org/mim/615523
comment: phenotype
database: MIM

Corneal dystrophy, gelatinous drop-like
type: Disease
alternative label: Amyloid corneal dystrophy Japanese type
alternative label: CDGDL
alternative label: Corneal amyloidosis
alternative label: Lattice corneal dystrophy type III
mnemonic: GDLD
comment: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. GDLD is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity.

http://purl.uniprot.org/mim/204870
comment: phenotype
database: MIM

Corneal dystrophy, Groenouw type 1
type: Disease
alternative label: Corneal dystrophy Groenouw type I
alternative label: GCD1
alternative label: Granular corneal dystrophy type I
alternative label: MeSH; D003317
alternative label: Punctate or nodular corneal dystrophy
mnemonic: CDGG1
comment: A rare form of stromal corneal dystrophy characterized by multiple small deposits in the superficial central corneal stroma, and progressive visual impairment.

http://purl.uniprot.org/mim/121900
comment: phenotype
database: MIM

Corneal dystrophy, lattice type 1
type: Disease
alternative label: Corneal dystrophy lattice type I
alternative label: Lattice corneal dystrophy type I
alternative label: LCD
alternative label: LCD1
mnemonic: CDL1
comment: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL1 is characterized by progressive visual impairment, and the presence of delicate, double-contoured, interdigitating, elongated deposits that form a reticular pattern in the corneal stroma. Systemic amyloidosis is absent. Recurrent corneal ulceration sometimes occurs.

http://purl.uniprot.org/mim/122200
comment: phenotype
database: MIM

Corneal dystrophy, lattice type 3A
type: Disease
alternative label: Lattice corneal dystrophy type IIIA
mnemonic: CDL3A
comment: A form of lattice corneal dystrophy, a class of inherited stromal amyloidoses characterized by pathognomonic branching lattice figures in the cornea. CDL3A is characterized by decreased visual acuity, and the presence of thick, ropy branching lattice lines and accumulations of amyloid deposits in the corneal stroma. Systemic amyloidosis is absent. CDL3A clinically resembles to lattice corneal dystrophy type 3, but differs in that its age of onset is 70 to 90 years. It has an autosomal dominant inheritance pattern.

http://purl.uniprot.org/mim/608471
comment: phenotype
database: MIM

Corneal dystrophy, Meesmann 1
type: Disease
alternative label: Corneal dystrophy, Meesmann epithelial
alternative label: Juvenile epithelial corneal dystrophy of Meesmann
alternative label: MCD
alternative label: MECD
alternative label: Meesmann corneal dystrophy
alternative label: Meesmann epithelial corneal dystrophy
mnemonic: MECD1
comment: A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD1 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/122100
comment: phenotype
database: MIM

Corneal dystrophy, Meesmann 2
type: Disease
mnemonic: MECD2
comment: A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant.

http://purl.uniprot.org/mim/618767
comment: phenotype
database: MIM

Corneal dystrophy, posterior polymorphous, 1
type: Disease
alternative label: CHED1
alternative label: Corneal endothelial dystrophy 1, autosomal dominant
alternative label: Hereditary polymorphous posterior corneal dystrophy
alternative label: Maumenee corneal dystrophy
alternative label: PPCD
mnemonic: PPCD1
comment: A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.

http://purl.uniprot.org/mim/122000
comment: phenotype
database: MIM

Corneal dystrophy, posterior polymorphous, 2
type: Disease
mnemonic: PPCD2
comment: A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.

http://purl.uniprot.org/mim/609140
comment: phenotype
database: MIM

Corneal dystrophy, posterior polymorphous, 3
type: Disease
mnemonic: PPCD3
comment: A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.

http://purl.uniprot.org/mim/609141
comment: phenotype
database: MIM

Corneal dystrophy, posterior polymorphous, 4
type: Disease
mnemonic: PPCD4
comment: A subtype of posterior corneal dystrophy, a disease characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. In severe cases, corneal endothelial failure may occur and corneal transplantation is required to restore vision. Secondary complications are common and include corneal edema, glaucoma, iris adherence to the cornea, and corectopia. PPCD4 transmission pattern is consistent with autosomal dominant inheritance.

http://purl.uniprot.org/mim/618031
comment: phenotype
database: MIM

Corneal dystrophy, punctiform and polychromatic pre-Descemet
type: Disease
mnemonic: PPPCD
comment: An autosomal dominant corneal dystrophy characterized by the presence of punctiform, multicolored opacities in the posterior stroma, immediately anterior to Descemet membrane. Affected individuals are typically asymptomatic.

http://purl.uniprot.org/mim/619871
comment: phenotype
database: MIM

Corneal dystrophy, Reis-Bucklers type
type: Disease
alternative label: CDB1
alternative label: Corneal dystrophy of Bowman layer type I
alternative label: Geographic corneal dystrophy
alternative label: Granular corneal dystrophy type III
alternative label: RBCD
alternative label: Reis-Bucklers corneal dystrophy
mnemonic: CDRB
comment: A bilateral disorder of the cornea characterized by intermittent attacks of ocular irritation, recurrent painful corneal erosions starting in childhood, corneal opacities in a geographic pattern at the level of the Bowman layer, and a progressive decrease of visual acuity. The lesions are primarily in Bowman membrane with secondary involvement of the epithelium and superficial part of the stroma. Bowman membrane is almost completely replaced by pathologic materials including disoriented collagen fibrils.

http://purl.uniprot.org/mim/608470
comment: phenotype
database: MIM

Corneal dystrophy, Schnyder type
type: Disease
alternative label: SCD
alternative label: Schnyder corneal dystrophy
alternative label: Schnyder crystalline corneal dystrophy
mnemonic: SCCD
comment: A form of stromal corneal dystrophy characterized by corneal clouding, resulting from abnormal deposition of cholesterol and phospholipids, and decreased visual acuity. Typically, ring-shaped yellow-white opacities composed of innumerable fine needle-shaped crystals form in Bowman layer and the adjacent anterior stroma of the central cornea. The crystals usually remain in the anterior third of the cornea. The corneal epithelium and endothelium as well as Descemet membrane are spared.

http://purl.uniprot.org/mim/121800
comment: phenotype
database: MIM

Corneal dystrophy, Thiel-Behnke type
type: Disease
alternative label: CDB2
alternative label: Corneal dystrophy of Bowman layer type II
alternative label: Honeycomb-shaped corneal dystrophy
alternative label: TBCD
alternative label: Thiel-Behnke corneal dystrophy
mnemonic: CDTB
comment: A bilateral disorder of the cornea characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions.

http://purl.uniprot.org/mim/602082
comment: phenotype
database: MIM

Corneal endothelial dystrophy
type: Disease
alternative label: CHED2
alternative label: Congenital hereditary endothelial corneal dystrophy
alternative label: Congenital hereditary endothelial dystrophy of cornea
alternative label: Corneal endothelial dystrophy 2, autosomal recessive
alternative label: Maumenee corneal dystrophy
mnemonic: CHED
comment: A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.

http://purl.uniprot.org/mim/217700
comment: phenotype
database: MIM

Cornelia de Lange syndrome 1
type: Disease
alternative label: Amstelodamensis typus degenerativus
mnemonic: CDLS1
comment: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

http://purl.uniprot.org/mim/122470
comment: phenotype
database: MIM

Cornelia de Lange syndrome 2
type: Disease
alternative label: Cornelia de Lange syndrome X-linked
mnemonic: CDLS2
comment: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

http://purl.uniprot.org/mim/300590
comment: phenotype
database: MIM

Cornelia de Lange syndrome 3 with or without midline brain defects
type: Disease
mnemonic: CDLS3
comment: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non-syndromic intellectual disability.

http://purl.uniprot.org/mim/610759
comment: phenotype
database: MIM

Cornelia de Lange syndrome 4 with or without midline brain defects
type: Disease
mnemonic: CDLS4
comment: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

http://purl.uniprot.org/mim/614701
comment: phenotype
database: MIM

Cornelia de Lange syndrome 5
type: Disease
mnemonic: CDLS5
comment: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

http://purl.uniprot.org/mim/300882
comment: phenotype
database: MIM

Coronary artery disease
type: Disease
alternative label: Coronary artery disease, severe
mnemonic: CAD
comment: A common heart disease characterized by reduced or absent blood flow in one or more of the arteries that encircle and supply the heart. Its most important complication is acute myocardial infarction.