Andreas Zankl Jane Hunter Tudor Groza Yuan-Fang Li January 12, 2011 Tudor Groza rdf/xml en eResearch Lab, School of ITEE, The University of Queensland Bone Dysplasia Ontology Bone Dysplasia Ontology Accession Number chromosomal locus Entrez Gene ID MESH id MESH OMIM number OMIM ref seq reference sequence UMLS CUI uniprot id UNIPROT characterized by has_anatomical_coordinate has locus has_qualifier has_quality is_encoded_by mode of inheritance mutation_type Parthood as a relation between instances: The primitive instance-level relation p part_of p1 is illustrated in assertions such as: this instance of rhodopsin mediated phototransduction part_of this instance of visual perception. This relation satisfies at least the following standard axioms of mereology: reflexivity (for all p, p part_of p); anti-symmetry (for all p, p1, if p part_of p1 and p1 part_of p then p and p1 are identical); and transitivity (for all p, p1, p2, if p part_of p1 and p1 part_of p2, then p part_of p2). Analogous axioms hold also for parthood as a relation between spatial regions. For parthood as a relation between continuants, these axioms need to be modified to take account of the incorporation of a temporal argument. Thus for example the axiom of transitivity for continuants will assert that if c part_of c1 at t and c1 part_of c2 at t, then also c part_of c2 at t. Parthood as a relation between classes: To define part_of as a relation between classes we again need to distinguish the two cases of continuants and processes, even though the explicit reference to instants of time now falls away. For continuants, we have C part_of C1 if and only if any instance of C at any time is an instance-level part of some instance of C1 at that time, as for example in: cell nucleus part_ of cell. part_of certainty probability reams:Abnormality Abnormality nci:Adenosine_to_Cytosine_Transversion_Abnormality A point mutation involving the substitution of Cytosine (a pyrimidine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1706716 Adenosine to Cytosine Transversion Abnormality nci:Adenosine_to_Guanosine_Transition_Abnormality A point mutation involving the substitution of Guanosine (a purine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1706717 Adenosine to Guanosine Transition Abnormality nci:Adenosine_to_Thymidine_Transversion_Abnormality A point mutation involving the substitution of Thymidine (a pyrimidine base) for Adenosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1706718 Adenosine to Thymidine Transversion Abnormality nci:Bistrand_Abasic_Site Location on a DNA strand where the phosphate backbone is intact but the nitrogenous base has been lost from both DNA strands. C1511183 Bistrand Abasic Site nci:Cancer_Gene_Mutation Any gene mutation that promotes neoplastic cellular transformation. Cancer gene mutations include both activation of oncogenes and inactivation of tumor suppressor genes. C1516197 Cancer Gene Mutation nci:Cytosine_to_Adenosine_Transversion_Abnormality A point mutation involving the substitution of Adenosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1707604 Cytosine to Adenosine Transversion Abnormality nci:Cytosine_to_Guanosine_Transversion_Abnormality A point mutation involving the substitution of Guanosine (a purine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1707605 Cytosine to Guanosine Transversion Abnormality nci:Cytosine_to_Thymidine_Transition_Abnormality A point mutation involving the substitution of Thymidine (a pyrimidine base) for Cytosine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1707606 Cytosine to Thymidine Transition Abnormality nci:Deleterious_Mutation A mutation that is documented to be associated with risk of disease. Deleterious Mutation nci:Deletion_Mutation Loss of a genomic DNA sequence. The extent of a deletion ranges from the loss of a single nucleotide to the loss of a substantial portion of an entire chromosome. Thus, deletions may alter the function of a single gene or multiple genes. C1511760 Deletion Mutation nci:Disease-causing_Mutation A gene alteration that causes or predisposes an individual to a specific disease. Disease-causing Mutation nci:Dominant-Negative_Mutation Any mutation that encodes an altered gene product that acts to antagonize the wild-type allele. Dominant negative mutations are characterized by a dominant or semi-dominant phenotype, and usually result in loss of function. C1512032 Dominant-Negative Mutation nci:Embryonic_Lethal_Mutation Any mutation that results in the embryonic death of the organism carrying the mutation. C1516823 Embryonic Lethal Mutation nci:Founder_Mutation A gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the mutant gene. This phenomenon is often called a founder effect. Founder Mutation nci:Frameshift_Mutation A mutation occuring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. C0079380 Frameshift Mutation nci:Gene_Alteration_Environmentally_Produced Any induced mutation within a gene, including all sequences transcribed into RNA. C1516890 Gene Alteration, Environmentally Produced nci:Gene_Deletion Any deletion mutation that occurs within a gene, including the 5' and 3' untranslated regions of the gene. C0017260 Gene Deletion nci:Gene_Fusion Any hybrid gene formed from two previously separate genes. Such fusions occur as a result of translocation, intersititial deletion or chromosomal inversion, and often result in gene products with functions different from the two fusion partners. Gene fusions are associated frequently with hematological cancers, sarcomas and prostate cancer. Gene Fusion nci:Gene_Mutation The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA. C0596611 Gene Mutation nci:Germline_Mutation Any mutation that appears in the gametes and which will therefore be transmitted to the progeny with some frequency. C0206530 Germline Mutation nci:Germline_Mutation_Abnormality A mutation in the genomic DNA of reproductive cells (egg or sperm) that is retained during meiosis, mitosis, and cell differentiation. Ultimately, the mutation is present in every cell in the body of the offspring. C1705427 Germline Mutation Abnormality nci:Guanosine_to_Adenosine_Transition_Abnormality A point mutation involving the substitution of Adenosine (a purine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1708261 Guanosine to Adenosine Transition Abnormality nci:Guanosine_to_Cytosine_Transversion_Abnormality A point mutation involving the substitution of Cytosine (a pyrimidine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1708262 Guanosine to Cytosine Transversion Abnormality nci:Guanosine_to_Thymidine_Transversion_Abnormality A point mutation involving the substitution of Thymidine (a pyrimidine base) for Guanosine (a purine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1708263 Guanosine to Thymidine Transversion Abnormality nci:Induced_Mutation Any mutation that occurs in response to inducing agents, including radiation, viral infection, and a broad variety of mutagenic chemicals. C1705427 Induced Mutation nci:Inframe_Mutation Any point mutation occuring within the protein-coding region of a gene, and which results in a retention of the reading frame of the encoded protein. C1881206 Inframe Mutation nci:Insertion_Mutation Any rearrangement to the genomic content that adds one or more extra nucleotides into the DNA. Insertions may be reversible, particulary if caused by transposable elements. They may alter the reading frame of a gene, or may cause large scale additions of genomic DNA. C1512796 Insertion Mutation nci:Intron_Splice_Region_Mutation Any intronic mutation that occurs at a distance up to 10 bases from the exon junction. C1881249 Intron Splice Region Mutation nci:Intronic_Mutation Any mutation within an intron, including the sequences that comprise the intron boundary. C1881250 Intronic Mutation nci:Inversion_Mutation_Abnormality A structural change in genomic DNA where the 5' to 3' order of a nucleotide sequence is completely reversed to the 3' to 5' order relative to its adjacent sequences. This inversion is termed either pericentric, if it includes the centromere of a chromosome, or pancentric, if it excludes the centromere. An inversion mutation abnormality may be heritable or occur somatically. C1705687 Inversion Mutation Abnormality nci:Missense_Mutation A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected. C0599155 Missense Mutation nci:Mixed_Nucleotide_Abnormalities Point mutations at various locations in a DNA sequence from eukaryotic or prokaryotic organisms in which a nucleotide substitution, deletion or insertion has occurred at each affected site. These abnormalities can be either heritable or occur somatically. C1709051 Mixed Nucleotide Abnormalities nci:Multiple_Nucleotide_Abnormalities Point mutations at various locations in a DNA sequence from either a eukaryotic or prokaryotic organism that causes a base change which results in an amino acid change in the protein product. This alteration may affect the stability and/or activity of the protein. Multiple mutation abnormalities may be heritable or occur spontaneously. C1709092 Multiple Nucleotide Abnormalities nci:Multiple_Transition_Abnormalities Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a different purine base or a pyrimidine base for another pyrimidine base. These abnormalities can be either heritable or occur somatically. C1709093 Multiple Transition Abnormalities nci:Multiple_Transversion_Abnormalities Multiple point mutations in a DNA sequence from eukaryotic or prokaryotic organisms in which each mutation occurs by substitution of a purine base for a pyrimidine base or vice versa. These abnormalities can be either heritable or occur somatically. C1709094 Multiple Transversion Abnormalities nci:Mutation_Abnormality Any transmissible change in the genetic material of an organism, which can result from radiation, viral infection, transposition, treatment with mutagenic chemicals and errors during DNA replication or meiosis. The effects of mutation range from single base changes to loss or gain of complete chromosomes. As many of the simpler alterations to DNA may be repaired, such changes are only heritable once the change is fixed in the DNA by the process of replication. Mutations may be associated with genetic diversity or with pathologies including cancer. C1705285 Mutation Abnormality nci:Nonsense_Mutation A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein. C0544885 Nonsense Mutation nci:Novel_Mutation A newly discovered, distinct gene alteration; NOT the same as new or de novo mutation. Novel Mutation nci:Null_Allele A mutation that results in either no gene product or the absence of function at the phenotypic level. Null Allele nci:Point_Mutation A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations. C0162735 Point Mutation nci:Restriction_Site_Polymorphism An inherited change of a single base in a DNA sequence from an organism that changes the specific pattern of bases recognized and hydrolyzed by a restriction endonuclease enzyme. Restriction site polymorphisms can either create or abolish recognition sites for restriction enzymes. C1709929 Restriction Site Polymorphism nci:Silent_Mutation A point mutation occuring within the protein-coding region of a gene, and which codes for the same amino acid as expected. C1519323 Silent Mutation nci:Somatic_Mutation Any mutation with an origin in cells that are not destined to become gametes. As a consequence, such mutations are not transmitted to progeny, though they will be transmitted during any mitosis within the individual. Somatic mutations may contribute to a broad variety of pathologies including cancer. C0544886 Somatic Mutation nci:Splice-Site_Mutation Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message. C1519478 Splice-Site Mutation nci:Sporadic_Breast_Tumor_Mutation Any change in the DNA sequence of a breast tumor susceptibility gene that is not found in the parental samples. C1519481 Sporadic Breast Tumor Mutation nci:Tandem_Repeat_Variation An inherited polymorphism in eukaryotic DNA that results from variations in the number of tandem repeat nucleotide sequences, which are end-to-end adjacent copies of a short (2 to 60 nucleotides) DNA sequence located between two restriction endonuclease recognition sites. These are referred to as variable number of tandem repeats (VNTR), and the number of alleles at these loci can vary from 2 to more than 20. VNTRs provide important genetic information that is used to identify an individual via the DNA fingerprinting technique. C1710347 Tandem Repeat Variation nci:Targeted_Mutation A mutation created in a gene at a specific location. Targeted mutations are frequently generated in the laboratory to investigate the influence of inactivation of a particular gene product. Targeted Mutation nci:Thymidine_to_Adenosine_Transversion_Abnormality A point mutation involving the substitution of Adenosine (a purine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1710404 Thymidine to Adenosine Transversion Abnormality nci:Thymidine_to_Cytosine_Transition_Abnormality A point mutation involving the substitution of Cytosine (a pyrimidine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1710405 Thymidine to Cytosine Transition Abnormality nci:Thymidine_to_Guanosine_Transversion_Abnormality A point mutation involving the substitution of Guanosine (a purine base) for Thymidine (a pyrimidine base) in a DNA sequence from eukaryotic or prokaryotic organisms. This abnormality can be either heritable or occur somatically. C1710406 Thymidine to Guanosine Transversion Abnormality nci:Transition_Mutation A relatively common point mutation in which a purine is exchanged for a nonidentical purine or a pyrimidine is exchanged for a nonidentical pyrimidine. Base mispairing and mutagenic chemicals including nitrous acid and 5-bromo-2-deoxyuridine can result in transitions. C0599156 Transition Mutation nci:Transversion_Mutation A relatively less common point mutation in which a purine is exchanged for a pyrimidine or a pyrimidine is exchanged for a purine. C0599157 Transversion Mutation nci:UV_Mutation_Abnormality A UV Mutation Abnormality is an altered heritable state of the genetic DNA nucleotide sequence caused by exposure to ultraviolet light (UV) that results mostly in the formation of cyclobutane pyrimidine dimers and (6-4) photoproducts. UV-damaged DNA interferes with DNA replication and transcription, and can lead to cell killing or mutagenesis if the damage is not properly repaired. C1710523 UV Mutation Abnormality nci:_3_Flank_Mutation Any gene mutation that occurs in the sequences downstream from a coding region of interest. C1883632 3' Flank Mutation nci:_3_Untranslated_Region_Mutation Any mutation in a gene occuring in the 3' end which contains sequences which may regulate the transcription or translation of the message. 3' UTR mutations are found only outside of open reading frames. C1883634 3' Untranslated Region Mutation nci:_5_Flank_Mutation Any gene mutation that occurs in the sequences upstream from a coding region of interest. C1883643 5' Flank Mutation nci:_5_Untranslated_Region_Mutation Any mutation in a gene occuring in the 5' end which contains sequences which may regulate the transcription or translation of the message. 5' UTR mutations are found only outside of open-reading frames. C1883645 5' Untranslated Region Mutation nci:de_novo_Mutation An alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents, or a mutation that arises in the fertilized egg itself during early embryogenesis. de novo Mutation obo2:OGMS_0000023 Phenotype A (combination of) quality(ies) of an organism determined by the interaction of its genetic make-up and environment that differentiates specific instances of a species from other instances of the same species. obo2:OGMS_0000045 Disorder A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease. obo2:OGMS_0000047 Genetic disorder A disorder whose etiology involves an abnormality in the nucleotide sequence of an organism's genome. hpo:HP_0000001 All hpo:HP_0000003 Multicystic kidney dysplasia hpo:HP_0000005 C0242538 C0439064 C0728826 C1708726 Mode of inheritance Inheritance hpo:HP_0000006 C0443147 Autosomal dominant inheritance Autosomal dominant hpo:HP_0000007 C0012655 C0220898 C0441748 Autosomal recessive inheritance Autosomal recessive hpo:HP_0000010 Recurrent urinary tract infections hpo:HP_0000011 Neurogenic bladder hpo:HP_0000013 Hypoplasia of the uterus hpo:HP_0000015 Bladder diverticula hpo:HP_0000020 Urinary incontinence hpo:HP_0000023 Inguinal hernia hpo:HP_0000028 Cryptorchidism hpo:HP_0000039 Epispadias hpo:HP_0000040 Enlarged penis hpo:HP_0000041 Chordee hpo:HP_0000042 Absent external genitalia hpo:HP_0000046 Scrotal hypoplasia hpo:HP_0000047 Hypospadias hpo:HP_0000048 Bifid scrotum hpo:HP_0000049 Shawl scrotum hpo:HP_0000053 Macroorchidism hpo:HP_0000054 Micropenis hpo:HP_0000057 Clitoromegaly hpo:HP_0000059 Hypoplastic labia majora hpo:HP_0000060 Clitoral hypoplasia hpo:HP_0000062 C0005615 C0235797 C0266362 C1550722 Ambiguous genitalia Ambiguous external genitalia hpo:HP_0000064 Hypoplastic labia minora hpo:HP_0000066 Labial hypoplasia hpo:HP_0000068 Urethral atresia hpo:HP_0000070 Ureterocele hpo:HP_0000071 Ureteral stenosis hpo:HP_0000072 Hydroureter hpo:HP_0000074 Ureteropelvic junction obstruction hpo:HP_0000075 Renal duplication hpo:HP_0000076 Vesicoureteral reflux hpo:HP_0000077 Abnormality of the kidney hpo:HP_0000081 Duplicated collecting system hpo:HP_0000082 hpo:HP_0000083 Renal failure hpo:HP_0000084 Renal failure in adulthood hpo:HP_0000085 Horseshoe kidney hpo:HP_0000086 Ectopic kidney hpo:HP_0000089 Renal hypoplasia hpo:HP_0000090 Nephronophthisis hpo:HP_0000093 Proteinuria hpo:HP_0000094 Urinary tract infections hpo:HP_0000096 Glomerulosclerosis hpo:HP_0000097 Focal segmental glomerulosclerosis hpo:HP_0000098 Tall stature hpo:HP_0000099 Glomerulonephritis hpo:HP_0000100 Nephrotic syndrome hpo:HP_0000101 Chronic renal failure hpo:HP_0000103 Polyuria hpo:HP_0000104 Renal agenesis hpo:HP_0000105 Enlarged kidneys hpo:HP_0000106 Progressive renal insufficiency hpo:HP_0000107 Renal cysts hpo:HP_0000110 Renal dysplasia hpo:HP_0000112 Nephropathy hpo:HP_0000113 Polycystic kidney dysplasia hpo:HP_0000114 Proximal renal tubule defect hpo:HP_0000117 Decreased renal tubular phosphate reabsorption hpo:HP_0000118 C0000768 C0178784 C0398368 C1704258 Phenotypic abnormality Organ abnormality hpo:HP_0000121 Nephrocalcinosis hpo:HP_0000122 Unilateral renal agenesis hpo:HP_0000123 Nephritis hpo:HP_0000126 Hydronephrosis hpo:HP_0000130 Abnormality of the uterus hpo:HP_0000135 Hypogonadism hpo:HP_0000136 Bifid uterus hpo:HP_0000141 Amenorrhea hpo:HP_0000143 Rectovaginal fistula hpo:HP_0000145 Transverse vaginal septum hpo:HP_0000147 Polycystic ovaries hpo:HP_0000148 Vaginal atresia hpo:HP_0000151 Aplasia of the uterus hpo:HP_0000154 Wide mouth hpo:HP_0000156 High-arched palate hpo:HP_0000158 Macroglossia hpo:HP_0000160 Small mouth hpo:HP_0000161 Median cleft lip hpo:HP_0000162 Glossoptosis hpo:HP_0000164 Abnormality of the teeth hpo:HP_0000169 Gingival fibromatosis hpo:HP_0000170 Full lips hpo:HP_0000171 Microglossia hpo:HP_0000175 C0008925 C2240378 Cleft palate hpo:HP_0000180 Lobulated tongue hpo:HP_0000184 Prominent lips hpo:HP_0000185 Cleft soft palate hpo:HP_0000187 Broad alveolar ridges hpo:HP_0000189 Narrow palate hpo:HP_0000193 Bifid uvula hpo:HP_0000198 Absence of Stensen duct hpo:HP_0000199 Tongue nodules hpo:HP_0000201 Pierre-Robin sequence hpo:HP_0000202 Cleft lip/palate hpo:HP_0000204 Cleft lip hpo:HP_0000205 Pursed lips hpo:HP_0000207 Triangular mouth hpo:HP_0000211 Trismus hpo:HP_0000212 Gingival overgrowth hpo:HP_0000213 Thin lips hpo:HP_0000215 hpo:HP_0000216 Broad secondary alveolar ridge hpo:HP_0000217 Xerostomia hpo:HP_0000218 High palate hpo:HP_0000219 Thin upper lip vermilion hpo:HP_0000220 Velopharyngeal insufficiency hpo:HP_0000232 Everted lower lip vermilion hpo:HP_0000237 Small anterior fontanelle hpo:HP_0000238 C0020255 C1963137 Hydrocephalus Hydrocephaly Nonsyndromal hydrocephalus hpo:HP_0000239 Large fontanelles hpo:HP_0000242 Parietal bossing hpo:HP_0000244 Brachyturricephaly hpo:HP_0000246 Sinusitis hpo:HP_0000248 Brachycephaly hpo:HP_0000250 Dense calvaria hpo:HP_0000252 Microcephaly hpo:HP_0000256 Macrocephaly hpo:HP_0000260 Wide anterior fontanel hpo:HP_0000262 Turricephaly hpo:HP_0000268 Dolichocephaly hpo:HP_0000269 Prominent occiput hpo:HP_0000270 Delayed closure of fontanelles hpo:HP_0000272 Malar hypoplasia hpo:HP_0000274 Small face hpo:HP_0000275 Narrow face hpo:HP_0000276 Long face hpo:HP_0000278 Retrognathia hpo:HP_0000280 Coarse facial features hpo:HP_0000282 Facial edema hpo:HP_0000283 Broad face hpo:HP_0000284 hpo:HP_0000286 Epicanthus hpo:HP_0000287 Normal or increased facial adipose tissue hpo:HP_0000292 Loss of facial adipose tissue hpo:HP_0000293 Full cheeks hpo:HP_0000294 Low anterior hairline hpo:HP_0000299 Long, smooth philtrum hpo:HP_0000300 Oval face hpo:HP_0000303 Mandibular prognathia hpo:HP_0000304 Round, full face hpo:HP_0000305 Prominent philtrum hpo:HP_0000307 Pointed chin hpo:HP_0000308 Microretrognathia hpo:HP_0000311 Round face hpo:HP_0000316 Hypertelorism hpo:HP_0000318 Long, narrow facies hpo:HP_0000319 Flat philtrum hpo:HP_0000320 Bird-like facies hpo:HP_0000321 Square face hpo:HP_0000322 Short philtrum hpo:HP_0000324 Facial asymmetry hpo:HP_0000325 Triangular facies hpo:HP_0000327 Hypoplasia of the maxilla hpo:HP_0000331 Small chin hpo:HP_0000336 Prominent supraorbital ridges hpo:HP_0000337 Broad forehead hpo:HP_0000339 'Pugilistic facies' hpo:HP_0000340 Sloping forehead hpo:HP_0000341 Narrow forehead hpo:HP_0000343 Long philtrum hpo:HP_0000345 Severe micrognathia hpo:HP_0000347 Micrognathia hpo:HP_0000348 High forehead hpo:HP_0000349 Widow's peak hpo:HP_0000354 High, broad forehead hpo:HP_0000356 Abnormality of the outer ear hpo:HP_0000358 Posteriorly rotated ears hpo:HP_0000363 Abnormality of ear lobes hpo:HP_0000365 Hearing impairment hpo:HP_0000367 Conductive deafness hpo:HP_0000368 Low-set, posteriorly rotated ears hpo:HP_0000369 Low-set ears hpo:HP_0000376 Mondini malformation hpo:HP_0000377 Abnormality of the pinna hpo:HP_0000378 Cup-shaped ears hpo:HP_0000381 Stapes ankylosis hpo:HP_0000382 Large, prominent ears hpo:HP_0000384 Preauricular skin tag hpo:HP_0000385 Hypoplastic ear lobes hpo:HP_0000386 Large, floppy ears hpo:HP_0000387 Lobeless ears hpo:HP_0000388 Otitis media hpo:HP_0000389 Chronic otitis media hpo:HP_0000391 Thickened helices hpo:HP_0000395 Prominent antihelix hpo:HP_0000396 Overfolded helix hpo:HP_0000400 Large ears hpo:HP_0000403 Recurrent otitis media hpo:HP_0000404 Deafness hpo:HP_0000405 Conductive hearing impairment hpo:HP_0000407 Sensorineural hearing impairment hpo:HP_0000410 Mixed hearing loss hpo:HP_0000411 Protruding ears hpo:HP_0000412 Prominent ears hpo:HP_0000413 External auditory canal atresia hpo:HP_0000414 Bulbous nose hpo:HP_0000416 Choanal atresia or stenosis hpo:HP_0000417 Slender nose hpo:HP_0000418 Pinched nose hpo:HP_0000420 Short nasal septum hpo:HP_0000421 Epistaxis hpo:HP_0000424 Broad nasal root hpo:HP_0000425 Flattened nasal bridge hpo:HP_0000426 Prominent nasal bridge hpo:HP_0000427 Upturned nose hpo:HP_0000428 Low nasal bridge hpo:HP_0000430 Hypoplastic nasal alae hpo:HP_0000431 Broad nasal bridge hpo:HP_0000432 Prominent nasal root hpo:HP_0000437 Flat nasal tip hpo:HP_0000441 Short, upturned nose hpo:HP_0000442 High nasal bridge hpo:HP_0000443 Bulbous nasal tip hpo:HP_0000444 Beaked nose hpo:HP_0000445 Broad nose hpo:HP_0000446 Narrow nasal bridge hpo:HP_0000447 Pear-shaped nose hpo:HP_0000448 Prominent nose hpo:HP_0000450 Small, pointed nose hpo:HP_0000452 Choanal stenosis hpo:HP_0000453 Choanal atresia hpo:HP_0000455 Broad nasal tip hpo:HP_0000456 Bifid nasal tip hpo:HP_0000457 Flat nose hpo:HP_0000458 Anosmia hpo:HP_0000460 Narrow nose hpo:HP_0000461 Large nose hpo:HP_0000463 Nares, anteverted hpo:HP_0000465 Webbed neck hpo:HP_0000468 Normal or increased adipose tissue around the neck hpo:HP_0000470 Short neck hpo:HP_0000472 Long neck hpo:HP_0000475 Broad neck hpo:HP_0000476 Cystic hygroma hpo:HP_0000480 Retinal coloboma hpo:HP_0000482 Microcornea hpo:HP_0000483 Astigmatism hpo:HP_0000484 Hyperopic astigmatism hpo:HP_0000486 Strabismus hpo:HP_0000487 Congenital strabismus hpo:HP_0000488 Retinopathy hpo:HP_0000490 Deeply set eye hpo:HP_0000491 Keratitis hpo:HP_0000494 Downward slanting palpebral fissures hpo:HP_0000495 Recurrent corneal erosions hpo:HP_0000498 Blepharitis hpo:HP_0000500 Long, curly eyelashes hpo:HP_0000501 Glaucoma hpo:HP_0000503 Tortuosity of conjunctival vessels hpo:HP_0000505 Impaired vision hpo:HP_0000506 Telecanthus hpo:HP_0000508 Ptosis hpo:HP_0000509 Conjunctivitis hpo:HP_0000510 Retinitis pigmentosa hpo:HP_0000515 Corneal opacity hpo:HP_0000518 Cataract hpo:HP_0000519 Congenital cataract hpo:HP_0000520 Proptosis hpo:HP_0000522 Alacrima hpo:HP_0000523 Subcapsular cataract hpo:HP_0000524 Conjunctival telangiectasia hpo:HP_0000527 Long eyelashes hpo:HP_0000528 Anophthalmia hpo:HP_0000529 Progressive visual loss hpo:HP_0000535 Sparse eyebrows hpo:HP_0000540 Hypermetropia hpo:HP_0000541 Retinal detachment hpo:HP_0000542 Impaired ocular adduction hpo:HP_0000543 Pale optic disks hpo:HP_0000545 Myopia hpo:HP_0000546 Retinal degeneration hpo:HP_0000548 Cone-rod dystrophy hpo:HP_0000556 Retinal dystrophy hpo:HP_0000557 Buphthalmos hpo:HP_0000561 Absent eyelashes hpo:HP_0000563 Keratoconus hpo:HP_0000564 Lacrimal duct atresia hpo:HP_0000565 Esotropia hpo:HP_0000567 Chorioretinal coloboma hpo:HP_0000568 Microphthalmos hpo:HP_0000572 Visual loss hpo:HP_0000574 Thick eyebrows hpo:HP_0000577 Exotropia hpo:HP_0000579 Nasolacrimal duct obstruction hpo:HP_0000580 Pigmentary retinopathy hpo:HP_0000581 Blepharophimosis hpo:HP_0000582 Upslanting palpebral fissures hpo:HP_0000586 Shallow orbits hpo:HP_0000588 Optic nerve coloboma hpo:HP_0000589 Coloboma hpo:HP_0000592 Blue sclerae hpo:HP_0000594 Shallow anterior chamber hpo:HP_0000597 Ophthalmoparesis hpo:HP_0000598 Abnormality of the ear hpo:HP_0000601 Hypotelorism hpo:HP_0000611 Choroid coloboma hpo:HP_0000612 Iris coloboma hpo:HP_0000613 Photophobia hpo:HP_0000617 Abnormality of ocular smooth pursuit hpo:HP_0000618 Blindness hpo:HP_0000619 Impaired convergence hpo:HP_0000620 Dacrocystitis hpo:HP_0000625 Eyelid coloboma hpo:HP_0000634 Impaired ocular abduction hpo:HP_0000635 Blue irides hpo:HP_0000636 Upper eyelid coloboma hpo:HP_0000637 Long palpebral fissures hpo:HP_0000639 Nystagmus hpo:HP_0000647 Sclerocornea hpo:HP_0000648 Optic atrophy hpo:HP_0000651 Diplopia hpo:HP_0000652 Lower eyelid coloboma hpo:HP_0000653 Sparse eyelashes hpo:HP_0000655 Vitreoretinal degeneration hpo:HP_0000656 Ectropion hpo:HP_0000661 Palpebral fissure narrowing on adduction hpo:HP_0000663 Enophthalmos hpo:HP_0000664 Synophrys hpo:HP_0000665 Lens dislocation hpo:HP_0000667 Phthisis bulbi hpo:HP_0000668 Hypodontia hpo:HP_0000670 Carious teeth hpo:HP_0000674 Anodontia hpo:HP_0000675 Macrodontia of permanent maxillary central incisor hpo:HP_0000676 hpo:HP_0000677 Oligodontia hpo:HP_0000678 Dental crowding hpo:HP_0000679 Taurodontia hpo:HP_0000680 Delayed eruption of primary teeth hpo:HP_0000682 Abnormality of dental enamel hpo:HP_0000683 Grayish enamel hpo:HP_0000684 Delayed eruption of teeth hpo:HP_0000685 Hypoplasia of teeth hpo:HP_0000687 Widely spaced teeth hpo:HP_0000689 Dental malocclusion hpo:HP_0000691 Microdontia hpo:HP_0000692 hpo:HP_0000695 Natal tooth hpo:HP_0000696 Delayed eruption of permanent teeth hpo:HP_0000698 Conical teeth hpo:HP_0000699 Diastema hpo:HP_0000703 Dentinogenesis imperfecta hpo:HP_0000705 Amelogenesis imperfecta hpo:HP_0000706 Unerupted tooth hpo:HP_0000708 Behavioural/Psychiatric Abnormality hpo:HP_0000716 Depression hpo:HP_0000718 Aggressive behavior hpo:HP_0000719 Inappropriate behavior hpo:HP_0000726 Dementia hpo:HP_0000727 Frontal lobe dementia hpo:HP_0000729 Pervasive developmental disorder hpo:HP_0000734 Disinhibition hpo:HP_0000736 Short attention span hpo:HP_0000737 Irritability hpo:HP_0000750 Impaired language development hpo:HP_0000751 Personality changes hpo:HP_0000752 Hyperactivity hpo:HP_0000757 Lack of insight hpo:HP_0000766 Abnormality of the sternum hpo:HP_0000767 Pectus excavatum hpo:HP_0000768 Pectus carinatum hpo:HP_0000772 Abnormality of the ribs hpo:HP_0000773 Short ribs hpo:HP_0000774 Narrow chest hpo:HP_0000775 Abnormality of the diaphragm hpo:HP_0000776 Diaphragmatic hernia hpo:HP_0000786 Primary amenorrhea hpo:HP_0000787 Kidney stones hpo:HP_0000789 Infertility hpo:HP_0000790 Hematuria hpo:HP_0000792 Kidney malformation hpo:HP_0000800 Cystic renal dysplasia hpo:HP_0000813 Bicornuate uterus hpo:HP_0000815 Hypergonadotropic hypogonadism hpo:HP_0000819 Diabetes mellitus hpo:HP_0000821 Hypothyroidism hpo:HP_0000822 Hypertension hpo:HP_0000823 Delayed puberty hpo:HP_0000824 Growth hormone deficiency hpo:HP_0000826 Precocious puberty hpo:HP_0000829 Hypoparathyroidism hpo:HP_0000831 Insulin-resistant diabetes mellitus hpo:HP_0000833 Glucose intolerance hpo:HP_0000835 Adrenal hypoplasia hpo:HP_0000836 Hyperthyroidism hpo:HP_0000842 Hyperinsulinemia hpo:HP_0000843 Hyperparathyroidism hpo:HP_0000845 Acromegaly hpo:HP_0000850 Cushing syndrome hpo:HP_0000852 Pseudohypoparathyroidism hpo:HP_0000863 Central diabetes insipidus hpo:HP_0000870 Hyperprolactinemia hpo:HP_0000871 Panhypopituitarism hpo:HP_0000873 Diabetes insipidus hpo:HP_0000878 11 pairs of ribs hpo:HP_0000879 Short sternum hpo:HP_0000882 Hypoplastic scapulae hpo:HP_0000883 Thin ribs hpo:HP_0000884 Prominent sternum hpo:HP_0000885 Broad ribs hpo:HP_0000887 Cupped ribs hpo:HP_0000888 Short, horizontal ribs hpo:HP_0000890 Long clavicles hpo:HP_0000891 Cervical ribs hpo:HP_0000894 Short clavicles hpo:HP_0000895 Hooked clavicles hpo:HP_0000896 Rib exostoses hpo:HP_0000897 Rachitic rosary hpo:HP_0000898 Hypoplastic clavicles hpo:HP_0000899 Short, thin ribs hpo:HP_0000900 Thickened ribs hpo:HP_0000902 Rib fusion hpo:HP_0000904 Flaring of rib cage hpo:HP_0000905 Progressive acroosteolysis of the clavicle hpo:HP_0000906 Short scapulae hpo:HP_0000907 Anterior rib cupping hpo:HP_0000908 Hypoplastic ribs hpo:HP_0000910 Wide-cupped costochondral junctions hpo:HP_0000911 Flat glenoid fossa hpo:HP_0000912 Sprengel anomaly hpo:HP_0000914 Shield chest hpo:HP_0000916 Broad clavicles hpo:HP_0000918 Scapular exostoses hpo:HP_0000920 Enlargement of the costochondral junction hpo:HP_0000921 Missing ribs hpo:HP_0000922 Posterior rib cupping hpo:HP_0000923 Beaded ribs hpo:HP_0000924 Abnormality of the musculoskeletal system hpo:HP_0000925 Abnormality of the vertebral column hpo:HP_0000926 Platyspondyly hpo:HP_0000934 Chondrocalcinosis hpo:HP_0000935 Thickened cortex of long bones hpo:HP_0000938 Osteopenia hpo:HP_0000939 Osteoporosis hpo:HP_0000943 Dysostosis multiplex hpo:HP_0000945 Flared irregular metaphyses hpo:HP_0000946 Hypoplastic ilia hpo:HP_0000952 Jaundice hpo:HP_0000954 Transverse palmar creases hpo:HP_0000957 Cafe-au-lait spots hpo:HP_0000958 Dry skin hpo:HP_0000960 Sacral dimple hpo:HP_0000962 Hyperkeratosis hpo:HP_0000963 Thin skin hpo:HP_0000964 Eczema hpo:HP_0000965 Cutis marmorata hpo:HP_0000967 Petechiae hpo:HP_0000969 Edema hpo:HP_0000970 Anhidrosis hpo:HP_0000972 Palmoplantar hyperkeratosis hpo:HP_0000973 Cutis laxa hpo:HP_0000974 Hyperextensible skin hpo:HP_0000975 Hyperhidrosis hpo:HP_0000978 Ecchymoses hpo:HP_0000979 Purpura hpo:HP_0000980 Pallor hpo:HP_0000982 Palmoplantar keratoderma hpo:HP_0000992 Photosensitivity hpo:HP_0000995 Pigmented nevi hpo:HP_0000996 Facial capillary hemangioma hpo:HP_0000997 Axillary freckling hpo:HP_0000998 Hypertrichosis hpo:HP_0001000 Abnormality of skin pigmentation hpo:HP_0001002 Decreased subcutaneous fat hpo:HP_0001006 Hypotrichosis hpo:HP_0001007 Hirsutism hpo:HP_0001009 Telangiectasia hpo:HP_0001010 Hypopigmentation of the skin hpo:HP_0001012 Lipomas hpo:HP_0001014 Angiokeratoma hpo:HP_0001016 Excessive wrinkled skin (palms and soles) hpo:HP_0001017 Anemic pallor hpo:HP_0001019 Erythroderma hpo:HP_0001024 Skin dimple over apex of long bone angulation hpo:HP_0001025 Urticaria hpo:HP_0001027 Soft, doughy skin hpo:HP_0001028 Hemangiomas hpo:HP_0001030 Fragile skin hpo:HP_0001034 Hyperpigmented macules hpo:HP_0001043 Prominent scalp veins hpo:HP_0001048 Cavernous hemangioma hpo:HP_0001051 Seborrheic dermatitis hpo:HP_0001052 Nevus flammeus hpo:HP_0001056 Milia hpo:HP_0001057 Aplasia cutis congenita hpo:HP_0001059 Pterygia hpo:HP_0001060 Axillary pterygia hpo:HP_0001061 Acne hpo:HP_0001065 Striae distensae hpo:HP_0001067 Neurofibromas hpo:HP_0001070 Mottled pigmentation hpo:HP_0001071 Angiokeratoma corporis diffusum hpo:HP_0001072 Thickened skin hpo:HP_0001073 Cigarette-paper scars hpo:HP_0001075 Atrophic scars hpo:HP_0001076 Glabellar hemangioma hpo:HP_0001083 Ectopia lentis hpo:HP_0001085 Papilledema hpo:HP_0001089 Iris atrophy hpo:HP_0001090 Large eyes hpo:HP_0001102 Angioid streaks hpo:HP_0001109 Globe retraction and deviation on adduction hpo:HP_0001113 Early cataracts hpo:HP_0001133 Constricted visual fields hpo:HP_0001138 Optic neuropathy hpo:HP_0001140 Epibulbar dermoids hpo:HP_0001153 Septate vagina hpo:HP_0001155 Abnormality of the hand hpo:HP_0001156 Brachydactyly hpo:HP_0001159 Syndactyly hpo:HP_0001161 Polydactyly (hands) hpo:HP_0001162 Postaxial polydactyly (hands) hpo:HP_0001166 Arachnodactyly hpo:HP_0001167 Abnormality of the fingers hpo:HP_0001169 Broad hands hpo:HP_0001171 Ectrodactyly (hands) hpo:HP_0001172 Abnormality of the thumb hpo:HP_0001174 Short broad hands hpo:HP_0001176 Large hands hpo:HP_0001177 Preaxial polydactyly (hands) hpo:HP_0001181 Adducted thumbs hpo:HP_0001182 Tapered fingers hpo:HP_0001187 Hyperextensibility of the finger joints hpo:HP_0001191 Abnormality of the carpal bones hpo:HP_0001193 Ulnar deviation of the hand or of fingers of the hand hpo:HP_0001195 Single umbilical artery hpo:HP_0001196 Short umbilical cord hpo:HP_0001199 Triphalangeal thumb hpo:HP_0001201 Severe brachydactyly hpo:HP_0001204 Distal symphalangism (hands) hpo:HP_0001212 Prominent fingertip pads hpo:HP_0001216 Delayed maturation/delayed ossification of carpal bones hpo:HP_0001217 Clubbing hpo:HP_0001222 Spatulate thumbs hpo:HP_0001223 Pointed proximal second through fifth metacarpals hpo:HP_0001225 Wrist swelling hpo:HP_0001230 Broad metacarpals hpo:HP_0001233 2-3 finger syndactyly hpo:HP_0001234 C1857269 Hitchhiker thumb hpo:HP_0001238 Slender fingers hpo:HP_0001239 Wrist contractures hpo:HP_0001240 Short, broad thumbs hpo:HP_0001241 Capitate-hamate fusion hpo:HP_0001245 Thenar hypoplasia hpo:HP_0001249 Intellectual disability hpo:HP_0001250 Seizures hpo:HP_0001251 Ataxia hpo:HP_0001252 Muscular hypotonia hpo:HP_0001256 Intellectual disability, mild hpo:HP_0001257 Spasticity hpo:HP_0001260 Dysarthria hpo:HP_0001263 Developmental delay hpo:HP_0001265 Hyporeflexia hpo:HP_0001266 Choreoathetosis hpo:HP_0001268 Mental deterioration hpo:HP_0001270 Motor delay hpo:HP_0001272 Cerebellar atrophy hpo:HP_0001274 Agenesis of corpus callosum hpo:HP_0001276 Hypertonia hpo:HP_0001281 Tetany hpo:HP_0001285 Spastic tetraparesis hpo:HP_0001288 Gait disturbance hpo:HP_0001293 Cranial nerve compression hpo:HP_0001302 Pachygyria hpo:HP_0001305 Dandy-Walker malformation hpo:HP_0001310 Dysmetria hpo:HP_0001317 Abnormality of the cerebellum hpo:HP_0001319 Neonatal hypotonia hpo:HP_0001320 Cerebellar vermis hypoplasia hpo:HP_0001321 Cerebellar hypoplasia hpo:HP_0001324 Muscle weakness hpo:HP_0001328 Learning disability hpo:HP_0001331 Absent septum pellucidum hpo:HP_0001332 Dystonia hpo:HP_0001336 Myoclonus hpo:HP_0001338 Partial agenesis of the corpus callosum hpo:HP_0001339 Lissencephaly hpo:HP_0001341 Olfactory lobe agenesis hpo:HP_0001347 Hyperreflexia hpo:HP_0001349 Facial diplegia hpo:HP_0001350 Slurred speech hpo:HP_0001355 Megalencephaly hpo:HP_0001357 Plagiocephaly hpo:HP_0001360 Holoprosencephaly hpo:HP_0001362 Skull defect hpo:HP_0001363 Craniosynostosis hpo:HP_0001369 Arthritis hpo:HP_0001370 Rheumatoid arthritis hpo:HP_0001371 Contractures hpo:HP_0001373 Joint dislocation hpo:HP_0001374 Congenital hip dislocation hpo:HP_0001376 Decreased mobility of joints hpo:HP_0001377 Limited elbow extension hpo:HP_0001380 Ligamentous laxity hpo:HP_0001382 Joint hypermobility hpo:HP_0001385 Hip dysplasia hpo:HP_0001386 Joint swelling hpo:HP_0001387 Joint stiffness hpo:HP_0001388 Joint laxity hpo:HP_0001395 Hepatic fibrosis hpo:HP_0001396 Cholestasis hpo:HP_0001399 Hepatic failure hpo:HP_0001407 Hepatic cysts hpo:HP_0001408 Bile duct proliferation hpo:HP_0001411 Abnormal liver function tests hpo:HP_0001417 C0241764 X-linked inheritance X-linked hpo:HP_0001419 C0241764 X-linked recessive inheritance hpo:HP_0001420 Isolated cases hpo:HP_0001423 C0241764 C0242538 C0728826 C1527180 C1847879 X-linked dominant inheritance hpo:HP_0001425 Heterogeneous hpo:HP_0001427 Mitochondrial inheritance hpo:HP_0001428 Somatic mutation hpo:HP_0001432 Early death hpo:HP_0001433 Hepatosplenomegaly hpo:HP_0001440 Synostosis involving metatarsal bones hpo:HP_0001442 Somatic mosaicism hpo:HP_0001451 Autosomal dominant with reduced penetrance hpo:HP_0001466 Contiguous gene syndrome hpo:HP_0001473 Osteolysis involving metatarsal bones hpo:HP_0001474 Sclerotic scapulae hpo:HP_0001476 Delayed closure of the anterior fontanelle hpo:HP_0001480 Freckling hpo:HP_0001492 Axenfeld anomaly hpo:HP_0001495 Carpal osteolysis hpo:HP_0001497 Short, broad fingers hpo:HP_0001498 Carpal bone hypoplasia hpo:HP_0001500 Broad fingers hpo:HP_0001501 6 metacarpals hpo:HP_0001504 Metacarpal osteolysis hpo:HP_0001508 Failure to thrive hpo:HP_0001510 Growth delay hpo:HP_0001511 Intrauterine growth restriction hpo:HP_0001513 Obesity hpo:HP_0001515 Prenatal growth deficiency hpo:HP_0001516 Dwarfism hpo:HP_0001517 Growth failure hpo:HP_0001518 Low birth weight hpo:HP_0001519 Dolichostenomelia hpo:HP_0001521 Severe growth retardation hpo:HP_0001522 Death in infancy hpo:HP_0001524 Short trunk hpo:HP_0001525 Severe failure to thrive hpo:HP_0001528 Hemihypertrophy hpo:HP_0001530 Growth retardation, mild hpo:HP_0001533 Asthenic habitus hpo:HP_0001534 Genitourinary atresia hpo:HP_0001537 Umbilical hernia hpo:HP_0001538 Protuberant abdomen hpo:HP_0001539 Omphalocele hpo:HP_0001540 Diastasis recti hpo:HP_0001541 Ascites hpo:HP_0001543 Gastroschisis hpo:HP_0001545 Anteriorly placed anus hpo:HP_0001548 Overgrowth hpo:HP_0001551 Abnormality of the umbilicus hpo:HP_0001552 Barrel-shaped chest hpo:HP_0001556 Sloping shoulders hpo:HP_0001558 Decreased fetal movement hpo:HP_0001561 Polyhydramnios hpo:HP_0001562 Oligohydramnios hpo:HP_0001571 Multiple impacted teeth hpo:HP_0001582 Loose, redundant skin hpo:HP_0001586 Vesicovaginal fistula hpo:HP_0001588 Clinodactyly (4th and 5th fingers) hpo:HP_0001591 Bell-shaped chest hpo:HP_0001592 Selective tooth agenesis hpo:HP_0001596 Alopecia hpo:HP_0001598 Koilonychia hpo:HP_0001601 Laryngomalacia hpo:HP_0001602 Laryngeal stenosis hpo:HP_0001605 Vocal cord paralysis hpo:HP_0001607 Subglottic stenosis hpo:HP_0001609 Hoarse voice hpo:HP_0001611 Nasal speech hpo:HP_0001614 Hypernasal speech hpo:HP_0001620 High pitched voice hpo:HP_0001622 Premature birth hpo:HP_0001623 Breech presentation hpo:HP_0001624 Stillbirth hpo:HP_0001625 Stillborn or death shortly after birth hpo:HP_0001627 Abnormality of the heart hpo:HP_0001629 Ventricular septal defect hpo:HP_0001631 Atrial septal defect hpo:HP_0001634 Mitral valve prolapse hpo:HP_0001635 Congestive heart failure hpo:HP_0001636 Tetralogy of Fallot hpo:HP_0001638 Cardiomyopathy hpo:HP_0001639 Hypertrophic cardiomyopathy hpo:HP_0001640 Cardiomegaly hpo:HP_0001642 Pulmonic stenosis hpo:HP_0001643 Patent ductus arteriosus hpo:HP_0001644 Dilated cardiomyopathy hpo:HP_0001647 Bicuspid aortic valve hpo:HP_0001648 Cor pulmonale hpo:HP_0001650 Aortic stenosis hpo:HP_0001651 Dextrocardia hpo:HP_0001653 Mitral regurgitation hpo:HP_0001654 Abnormality of the heart valves hpo:HP_0001655 Patent foramen ovale hpo:HP_0001659 Aortic insufficiency hpo:HP_0001665 Abnormality of cardiac conduction hpo:HP_0001669 Transposition of the great arteries hpo:HP_0001670 Asymmetric septal hypertrophy hpo:HP_0001671 Abnormality of the cardiac septa hpo:HP_0001680 Coarctation of aorta hpo:HP_0001682 Subaortic stenosis hpo:HP_0001699 Sudden death hpo:HP_0001700 Myocardial necrosis hpo:HP_0001704 Tricuspid valve prolapse hpo:HP_0001705 Right ventricular outlet obstruction hpo:HP_0001718 Mitral stenosis hpo:HP_0001724 Aortic dilatation hpo:HP_0001733 Pancreatitis hpo:HP_0001734 Annular pancreas hpo:HP_0001737 Pancreatic cysts hpo:HP_0001738 Exocrine pancreatic insufficiency hpo:HP_0001742 Nasal obstruction leading to mouth breathing hpo:HP_0001744 Splenomegaly hpo:HP_0001746 Asplenia hpo:HP_0001747 Accessory spleen hpo:HP_0001748 Polysplenia hpo:HP_0001750 Single ventricle hpo:HP_0001755 Large, protruding ears hpo:HP_0001760 Abnormality of the feet hpo:HP_0001761 Pes cavus hpo:HP_0001762 Talipes equinovarus hpo:HP_0001763 Pes planus hpo:HP_0001764 Small feet hpo:HP_0001765 Hammer toes hpo:HP_0001769 Broad feet hpo:HP_0001770 Toe syndactyly hpo:HP_0001772 Talipes equinovalgus hpo:HP_0001773 Short, broad feet hpo:HP_0001776 Bilateral club feet hpo:HP_0001780 Abnormality of the toes hpo:HP_0001781 Short, broad toes hpo:HP_0001782 'Tree-frog' feet hpo:HP_0001783 Broad metatarsals hpo:HP_0001785 Ankle swelling hpo:HP_0001789 Hydrops fetalis hpo:HP_0001792 Nail hypoplasia hpo:HP_0001795 Hyperconvex nails hpo:HP_0001798 Anonychia hpo:HP_0001799 Short nails hpo:HP_0001800 Hypoplastic toenails hpo:HP_0001802 Absent toenails hpo:HP_0001803 Nail pitting hpo:HP_0001804 Hypoplastic fingernails hpo:HP_0001806 Onycholysis hpo:HP_0001808 Fragile nails hpo:HP_0001809 Longitudinal splitting hpo:HP_0001811 Grooved nails hpo:HP_0001814 Thin, deep-set nails hpo:HP_0001816 Thin nails hpo:HP_0001820 Leukonychia hpo:HP_0001821 Broad nails hpo:HP_0001822 Hallux valgus hpo:HP_0001833 Large feet hpo:HP_0001837 Broad toes hpo:HP_0001839 Ectrodactyly (feet) hpo:HP_0001840 Metatarsus varus hpo:HP_0001845 Overriding toes hpo:HP_0001847 Long hallux hpo:HP_0001848 Calcaneovalgus deformities hpo:HP_0001849 Oligodactyly (feet) hpo:HP_0001852 Gap between first and second toes hpo:HP_0001861 Short, broad hallux hpo:HP_0001864 Fifth toe clinodactyly hpo:HP_0001865 Short, broad metatarsals hpo:HP_0001873 Thrombocytopenia hpo:HP_0001875 Neutropenia hpo:HP_0001876 Pancytopenia hpo:HP_0001880 Eosinophilia hpo:HP_0001882 Leukopenia hpo:HP_0001883 Talipes hpo:HP_0001885 Brachydactyly (2nd-5th toes) hpo:HP_0001888 Lymphopenia hpo:HP_0001892 Bleeding diathesis hpo:HP_0001896 Reticulocytopenia hpo:HP_0001903 Anemia hpo:HP_0001905 hpo:HP_0001908 Hypoplastic anemia hpo:HP_0001909 Leukemia hpo:HP_0001915 Aplastic anemia hpo:HP_0001920 Renal artery stenosis hpo:HP_0001922 Vacuolated lymphocytes hpo:HP_0001941 Acidosis hpo:HP_0001945 Fever hpo:HP_0001947 Renal tubular acidosis hpo:HP_0001954 Fever, episodic hpo:HP_0001956 Truncal obesity hpo:HP_0001959 Polydipsia hpo:HP_0001964 Aplasia/Hypoplasia of metatarsal bones hpo:HP_0001970 Tubulointerstitial nephritis hpo:HP_0001972 Macrocytic anemia hpo:HP_0001974 Leukocytosis hpo:HP_0001978 Extramedullary hematopoiesis hpo:HP_0001979 Large vacuolated foam cells ('NP cells') on bone marrow biopsy hpo:HP_0001999 Facial dysmorphism hpo:HP_0002002 Deep philtrum hpo:HP_0002003 Large forehead hpo:HP_0002007 Frontal bossing hpo:HP_0002013 Vomiting hpo:HP_0002014 Diarrhea hpo:HP_0002015 Dysphagia hpo:HP_0002019 Constipation hpo:HP_0002020 Gastroesophageal reflux hpo:HP_0002021 Pyloric stenosis hpo:HP_0002022 Feeding difficulties hpo:HP_0002023 Anal atresia hpo:HP_0002024 Malabsorption hpo:HP_0002025 Anal stenosis hpo:HP_0002032 Esophageal atresia hpo:HP_0002036 Hiatus hernia hpo:HP_0002039 Anorexia hpo:HP_0002047 Malignant hyperthermia hpo:HP_0002059 Cerebral atrophy hpo:HP_0002066 Gait ataxia hpo:HP_0002069 Generalized tonic-clonic seizures hpo:HP_0002070 Limb ataxia hpo:HP_0002079 Hypoplasia of the corpus callosum hpo:HP_0002081 Memory loss hpo:HP_0002084 Encephalocele hpo:HP_0002085 Occipital encephalocele hpo:HP_0002089 Pulmonary hypoplasia hpo:HP_0002090 Pneumonia hpo:HP_0002091 Restrictive lung disease hpo:HP_0002092 Pulmonary hypertension hpo:HP_0002093 Respiratory insufficiency hpo:HP_0002094 Dyspnea hpo:HP_0002097 Emphysema hpo:HP_0002098 Respiratory distress hpo:HP_0002099 Asthma hpo:HP_0002100 Aspiration pneumonia hpo:HP_0002101 Abnormal lung lobation hpo:HP_0002104 Apnea hpo:HP_0002107 Pneumothorax hpo:HP_0002117 Speech delay hpo:HP_0002119 Ventriculomegaly hpo:HP_0002120 Cerebral cortical atrophy hpo:HP_0002126 Polymicrogyria hpo:HP_0002127 Upper motor neuron abnormality hpo:HP_0002132 Porencephaly hpo:HP_0002135 Basal ganglia calcification hpo:HP_0002144 Tethered cord hpo:HP_0002148 Hypophosphatemia hpo:HP_0002149 Hyperuricemia hpo:HP_0002150 Hypercalciuria hpo:HP_0002159 Heparan sulfate excretion in urine hpo:HP_0002162 Low posterior hairline hpo:HP_0002164 Nail dysplasia hpo:HP_0002167 Neurological speech impairment hpo:HP_0002170 Intracranial hemorrhage hpo:HP_0002171 Gliosis hpo:HP_0002176 Spinal cord compression hpo:HP_0002180 Neurodegeneration hpo:HP_0002186 Apraxia hpo:HP_0002187 Intellectual disability, profound hpo:HP_0002188 Delayed myelination hpo:HP_0002196 Myelopathy hpo:HP_0002205 Recurrent respiratory infections hpo:HP_0002208 Coarse hair hpo:HP_0002209 Sparse scalp hair hpo:HP_0002213 Fine hair hpo:HP_0002215 Sparse axillary hair hpo:HP_0002217 Slow-growing hair hpo:HP_0002219 Facial hypertrichosis hpo:HP_0002222 Sparse eyebrows and eyelashes hpo:HP_0002225 Sparse pubic hair hpo:HP_0002230 Generalized hirsutism hpo:HP_0002231 Sparse body hair hpo:HP_0002232 Patchy alopecia hpo:HP_0002237 Thin hair hpo:HP_0002240 Hepatomegaly hpo:HP_0002245 Meckel diverticulum hpo:HP_0002247 Duodenal atresia hpo:HP_0002251 Congenital megacolon hpo:HP_0002257 Chronic rhinitis hpo:HP_0002273 Tetraparesis hpo:HP_0002280 Enlarged cisterna magna hpo:HP_0002281 Gray matter heterotopias hpo:HP_0002282 Heterotopia hpo:HP_0002284 Sparse to absent eyelashes hpo:HP_0002286 Light colored hair hpo:HP_0002294 Fair hair hpo:HP_0002307 Drooling hpo:HP_0002308 Arnold-Chiari malformation hpo:HP_0002309 Weakness hpo:HP_0002315 Headache hpo:HP_0002318 Cervical myelopathy hpo:HP_0002319 Thin corpus callosum hpo:HP_0002323 Anencephaly hpo:HP_0002324 Hydranencephaly hpo:HP_0002326 Transient ischemic attack hpo:HP_0002335 Agenesis of cerebellar vermis hpo:HP_0002340 Caudate atrophy hpo:HP_0002341 Cervical cord compression hpo:HP_0002342 Intellectual disability, moderate hpo:HP_0002344 Progressive neurologic deterioration hpo:HP_0002352 Leukoencephalopathy hpo:HP_0002353 EEG abnormalities hpo:HP_0002360 Sleep disturbances hpo:HP_0002370 Poor coordination hpo:HP_0002371 Loss of speech hpo:HP_0002376 Developmental regression hpo:HP_0002385 Paraparesis hpo:HP_0002389 Cavum septum pellucidum hpo:HP_0002410 Aqueductal stenosis hpo:HP_0002414 Spina bifida hpo:HP_0002435 Meningocele hpo:HP_0002436 Occipital meningocele hpo:HP_0002444 Hypothalamic hamartoma hpo:HP_0002459 Dysautonomia hpo:HP_0002474 Expressive language delay hpo:HP_0002476 Primitive reflexes (palmomental, snout, glabellar) hpo:HP_0002478 Progressive spastic quadriplegia hpo:HP_0002486 Myotonia hpo:HP_0002500 Abnormality of the cerebral white matter hpo:HP_0002507 Semilobar holoprosencephaly hpo:HP_0002510 Spastic tetraplegia hpo:HP_0002512 Brain stem compression hpo:HP_0002515 Waddling gait hpo:HP_0002516 Increased intracranial pressure hpo:HP_0002539 Cortical dysplasia hpo:HP_0002553 Arched eyebrows hpo:HP_0002554 Thin eyebrows hpo:HP_0002557 Hypoplastic nipples hpo:HP_0002558 Supernumerary nipples hpo:HP_0002561 Absent nipples hpo:HP_0002564 Cardiac malformation hpo:HP_0002566 Intestinal malrotation hpo:HP_0002570 Steatorrhea hpo:HP_0002575 Tracheoesophageal fistula hpo:HP_0002576 Intussusception hpo:HP_0002581 Pancreatic insufficiency hpo:HP_0002588 Duodenal ulcer hpo:HP_0002589 Gastrointestinal atresia hpo:HP_0002592 Gastric ulcer hpo:HP_0002616 Aortic root dilatation hpo:HP_0002617 Aneurysm hpo:HP_0002623 Overriding aorta hpo:HP_0002631 Ascending aortic aneurysm hpo:HP_0002634 Arteriosclerosis hpo:HP_0002643 Neonatal respiratory distress hpo:HP_0002645 Wormian bones hpo:HP_0002647 Aortic dissection hpo:HP_0002650 Scoliosis hpo:HP_0002651 Spondyloepimetaphyseal dysplasia hpo:HP_0002652 Skeletal dysplasia hpo:HP_0002653 Bone pain hpo:HP_0002654 Multiple epiphyseal dysplasia hpo:HP_0002655 Spondyloepiphyseal dysplasia hpo:HP_0002656 Epiphyseal dysplasia hpo:HP_0002657 Spondylometaphyseal dysplasia hpo:HP_0002659 Increased susceptibility to fractures hpo:HP_0002663 Late ossifying epiphyses hpo:HP_0002665 Lymphoma hpo:HP_0002666 Pheochromocytoma hpo:HP_0002667 Nephroblastoma (Wilms tumor) hpo:HP_0002673 Coxa valga hpo:HP_0002676 Cloverleaf skull hpo:HP_0002677 Small foramen magnum hpo:HP_0002680 J-shaped sella turcica hpo:HP_0002681 Deformed sella turcica hpo:HP_0002682 Broad skull hpo:HP_0002684 Thickened calvaria hpo:HP_0002685 Craniosynostosis (coronal, sagittal, lambdoid sutures) hpo:HP_0002688 Absent frontal sinuses hpo:HP_0002689 Absent paranasal sinuses hpo:HP_0002690 Large sella turcica hpo:HP_0002691 Platybasia hpo:HP_0002692 Hypoplastic facial bones hpo:HP_0002694 Sclerotic skull base hpo:HP_0002695 Symmetrical, oval parietal bone defects hpo:HP_0002697 Parietal foramina hpo:HP_0002700 Large foramen magnum hpo:HP_0002706 Small shallow orbits hpo:HP_0002714 Downturned corners of mouth hpo:HP_0002718 Recurrent bacterial infections hpo:HP_0002719 Recurrent infections hpo:HP_0002721 Immunodeficiency hpo:HP_0002737 Thick skull base hpo:HP_0002738 Hypoplastic frontal sinuses hpo:HP_0002748 Rickets hpo:HP_0002749 Osteomalacia hpo:HP_0002750 Delayed skeletal maturation hpo:HP_0002751 Kyphoscoliosis hpo:HP_0002752 Sparse bone trabeculae hpo:HP_0002753 Thin bony cortex hpo:HP_0002754 Osteomyelitis hpo:HP_0002756 Pathologic fracture hpo:HP_0002757 Recurrent fractures hpo:HP_0002758 Osteoarthritis hpo:HP_0002761 Generalized joint laxity hpo:HP_0002762 Multiple exostoses hpo:HP_0002766 Relatively short spine hpo:HP_0002773 Small vertebral bodies hpo:HP_0002777 Tracheal stenosis hpo:HP_0002779 Tracheomalacia hpo:HP_0002780 Bronchomalacia hpo:HP_0002781 Upper airway obstruction hpo:HP_0002786 Tracheobronchomalacia hpo:HP_0002787 Tracheal calcifications hpo:HP_0002788 Recurrent upper respiratory tract infections hpo:HP_0002789 Tachypnea hpo:HP_0002797 Osteolysis hpo:HP_0002799 Mild osteopenia hpo:HP_0002803 Congenital contractures hpo:HP_0002804 hpo:HP_0002805 Accelerated bone age after puberty hpo:HP_0002808 Kyphosis hpo:HP_0002810 Dumbbell-shaped metaphyses hpo:HP_0002812 Coxa vara hpo:HP_0002814 Abnormality of the lower limb hpo:HP_0002816 Genu recurvatum hpo:HP_0002822 Hyperplasia of the femoral trochanters hpo:HP_0002825 Caudal appendage hpo:HP_0002826 Halberd-shaped pelvis hpo:HP_0002827 Dislocated hips hpo:HP_0002829 Arthralgia hpo:HP_0002831 Long coccyx hpo:HP_0002832 Calcific stippling hpo:HP_0002834 Flared femurs and humeri hpo:HP_0002835 Aspiration hpo:HP_0002837 Bronchitis hpo:HP_0002843 Abnormality of T cells hpo:HP_0002857 Genu valgum hpo:HP_0002858 Meningioma hpo:HP_0002859 Rhabdomyosarcoma hpo:HP_0002863 Myelodysplasia hpo:HP_0002866 Hypoplastic iliac wings hpo:HP_0002868 Narrow iliac wings hpo:HP_0002869 Flared iliac wings hpo:HP_0002870 Obstructive sleep apnea hpo:HP_0002879 Anisospondyly hpo:HP_0002893 Pituitary adenoma hpo:HP_0002897 Parathyroid adenoma hpo:HP_0002901 Hypocalcemia hpo:HP_0002904 Hyperbilirubinemia hpo:HP_0002905 Hyperphosphatemia hpo:HP_0002908 Conjugated hyperbilirubinemia hpo:HP_0002918 Hypermagnesemia hpo:HP_0002925 Increased serum thyroid-stimulating hormone (TSH) hpo:HP_0002937 Hemivertebrae hpo:HP_0002938 C1840339 C1854768 Lumbar hyperlordosis Exaggerated lumbar lordosis Increased lumbar lordosis Lumbar lordosis Marked lumbar lordosis Prominent lumbar lordosis hpo:HP_0002939 Lordosis hpo:HP_0002942 Thoracic kyphosis hpo:HP_0002943 Thoracic scoliosis hpo:HP_0002944 Thoracolumbar scoliosis hpo:HP_0002945 Intervertebral space narrowing hpo:HP_0002946 Supernumerary vertebrae hpo:HP_0002947 Cervical kyphosis hpo:HP_0002948 Vertebral fusion hpo:HP_0002949 Fused cervical vertebrae hpo:HP_0002953 Vertebral compression fractures hpo:HP_0002964 Susceptibility to infection hpo:HP_0002967 Cubitus valgus hpo:HP_0002968 Rhizomelic shortening hpo:HP_0002970 Genu varum hpo:HP_0002974 Radioulnar synostosis hpo:HP_0002976 Curvatures of the femur, tibia, fibula hpo:HP_0002978 Knee contractures hpo:HP_0002979 C0023216 C0152432 C0544755 C1140621 Bowing of the legs Bowed legs Bowed lower limbs hpo:HP_0002980 C1837080 Femoral bowing hpo:HP_0002982 Tibial bowing hpo:HP_0002983 Micromelia hpo:HP_0002984 Hypoplasia of the radius hpo:HP_0002986 Radial bowing hpo:HP_0002987 Elbow contractures hpo:HP_0002990 Fibular aplasia hpo:HP_0002996 Limited elbow movement hpo:HP_0002999 Dislocation of patella hpo:HP_0003013 'Bulging' epiphyses hpo:HP_0003014 Short humeri hpo:HP_0003015 Flared metaphyses hpo:HP_0003016 Metaphyseal widening hpo:HP_0003017 Frayed, irregular metaphyses hpo:HP_0003020 Enlargement of the wrists hpo:HP_0003021 Metaphyseal cupping hpo:HP_0003022 Hypoplasia of the ulna hpo:HP_0003025 Irregular metaphyses hpo:HP_0003026 Short long bones hpo:HP_0003027 Mesomelia hpo:HP_0003029 Enlargement of the ankles hpo:HP_0003031 Ulnar bowing hpo:HP_0003032 Short femoral neck hpo:HP_0003033 Mild joint stiffness hpo:HP_0003034 Diaphyseal sclerosis hpo:HP_0003037 Enlarged joints hpo:HP_0003038 Fibular hypoplasia hpo:HP_0003039 Small, irregular epiphyses hpo:HP_0003040 Arthropathy hpo:HP_0003041 Humoradial synostosis hpo:HP_0003042 Elbow dislocation hpo:HP_0003044 Shoulder contractures hpo:HP_0003048 Radial head subluxation hpo:HP_0003049 Ulnar deviation of the wrist hpo:HP_0003051 Enlarged metaphyses hpo:HP_0003053 Epiphyseal deformities of tubular bones hpo:HP_0003054 Short, bowed limbs hpo:HP_0003057 Tetraamelia hpo:HP_0003060 Thin, gracile long bones hpo:HP_0003065 Patellar hypoplasia hpo:HP_0003066 Limited knee extension hpo:HP_0003067 Madelung deformity hpo:HP_0003068 Madelung-like forearm deformities hpo:HP_0003071 Flattened epiphyses hpo:HP_0003072 Hypercalcemia hpo:HP_0003074 Hyperglycemia hpo:HP_0003077 Hyperlipidemia hpo:HP_0003080 Hydroxyprolinuria hpo:HP_0003083 Dislocated radial head hpo:HP_0003084 Fractures of the long bones hpo:HP_0003085 Disproportionately long fibulae hpo:HP_0003086 Acromesomelia hpo:HP_0003088 Premature osteoarthritis hpo:HP_0003090 Hypoplasia of the capital femoral epiphysis hpo:HP_0003093 Limited elbow and hip extension hpo:HP_0003097 Short femur hpo:HP_0003099 Fibular overgrowth hpo:HP_0003100 Thin long bones hpo:HP_0003102 Increased carrying angle hpo:HP_0003105 Protuberances at ends of long bones hpo:HP_0003109 Hyperphosphaturia hpo:HP_0003121 Limb contractures hpo:HP_0003126 Low-molecular-weight proteinuria hpo:HP_0003127 Hypocalciuria hpo:HP_0003148 Elevated serum acid phosphatase hpo:HP_0003152 Increased serum 1,25-dihydroxyvitamin D3 hpo:HP_0003155 Elevated alkaline phosphatase hpo:HP_0003160 Abnormal isoelectric focusing of serum transferrin hpo:HP_0003165 Elevated serum parathyroid hormone (PTH) level hpo:HP_0003171 Horizontal acetabular roof hpo:HP_0003173 Hypoplastic pubic bones hpo:HP_0003175 Hypoplastic ischia hpo:HP_0003177 Square iliac bones hpo:HP_0003178 Short and small iliac bones hpo:HP_0003179 Protrusio acetabuli hpo:HP_0003180 Flat acetabular roofs hpo:HP_0003181 Small, flared iliac wings hpo:HP_0003182 Shallow acetabular fossae hpo:HP_0003183 Wide pubic symphysis hpo:HP_0003184 Decreased hip abduction hpo:HP_0003185 Small sacroiliac notches hpo:HP_0003186 Inverted nipples hpo:HP_0003187 Breast hypoplasia hpo:HP_0003195 Small, upturned nose hpo:HP_0003196 Nasal hypoplasia hpo:HP_0003199 Decreased muscle mass hpo:HP_0003202 Amyotrophy hpo:HP_0003213 Deficient excision of UV-induced pyrimidine dimers in DNA hpo:HP_0003214 Prolonged G2 phase of cell cycle hpo:HP_0003220 hpo:HP_0003221 Chromosomal breakage induced by crosslinking agents hpo:HP_0003239 Phosphoethanolaminuria hpo:HP_0003241 Genital hypoplasia hpo:HP_0003246 Prominent scrotal raphe hpo:HP_0003252 Anteriorly displaced genitalia hpo:HP_0003260 Hydroxyprolinemia hpo:HP_0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase hpo:HP_0003270 Abdominal distention hpo:HP_0003273 Hip contractures hpo:HP_0003274 Hypoplastic acetabulae hpo:HP_0003275 Narrow pelvis hpo:HP_0003276 Pelvic exostoses hpo:HP_0003277 Constricted iliac wings hpo:HP_0003279 Coxa magna hpo:HP_0003282 Low alkaline phosphatase hpo:HP_0003298 Spina bifida occulta hpo:HP_0003300 Ovoid vertebral bodies hpo:HP_0003301 Irregular vertebral endplates hpo:HP_0003302 Spondylolisthesis hpo:HP_0003304 Spondylolysis hpo:HP_0003305 Block vertebrae hpo:HP_0003307 Hyperlordosis hpo:HP_0003308 Cervical subluxation hpo:HP_0003309 Ovoid thoracolumbar vertebrae hpo:HP_0003310 Abnormality of the odontoid process hpo:HP_0003311 Hypoplasia of the odontoid process hpo:HP_0003312 Abnormal form of the vertebral bodies hpo:HP_0003319 Abnormality of the cervical spine hpo:HP_0003320 C1-C2 subluxation hpo:HP_0003324 Generalized muscle weakness hpo:HP_0003331 A thin seal of bone at the chondroosseous junction hpo:HP_0003332 Absent primary metaphyseal spongiosa hpo:HP_0003333 Increased serum beta-hexosaminidase hpo:HP_0003336 Arrest of endochondral ring structures with persistence of circumferential growth hpo:HP_0003355 Aminoaciduria hpo:HP_0003365 Arthralgia of the hip hpo:HP_0003370 Flat capital femoral epiphysis hpo:HP_0003371 Enlargement of the proximal femoral epiphysis hpo:HP_0003375 Narrow greater sacrosciatic notches hpo:HP_0003381 Demyelination hpo:HP_0003393 Thenar muscle atrophy hpo:HP_0003396 Syringomyelia hpo:HP_0003406 Peripheral nerve compression hpo:HP_0003411 Irregular proximal femoral metaphyses hpo:HP_0003414 Atlantoaxial dislocation hpo:HP_0003416 Spinal canal stenosis hpo:HP_0003417 Coronal cleft vertebrae hpo:HP_0003418 Back pain hpo:HP_0003419 Low back pain hpo:HP_0003421 Platyspondyly (childhood) hpo:HP_0003422 Vertebral segmentation defects hpo:HP_0003423 Thoracolumbar kyphoscoliosis hpo:HP_0003440 Horizontal sacrum hpo:HP_0003447 Axonal loss hpo:HP_0003456 Low urinary cyclic AMP response to PTH administration hpo:HP_0003462 Elevated 8-dehydrocholesterol hpo:HP_0003465 Elevated 8(9)-cholestenol hpo:HP_0003467 Atlantoaxial instability hpo:HP_0003470 Paralysis hpo:HP_0003472 Hypocalcemic tetany hpo:HP_0003487 Babinski sign hpo:HP_0003491 Elevated plasma and urine inorganic pyrophosphate (PPI) hpo:HP_0003498 Short stature, disproportionate hpo:HP_0003499 Short stature, proportionate hpo:HP_0003500 Short-trunked dwarfism hpo:HP_0003502 Mild short stature hpo:HP_0003505 C0013336 C0239399 C1843097 C1855821 Short limb dwarfism Dwarfism, short-limbed Short-limb dwarfism Short-limbed dwarfism hpo:HP_0003508 Proportionate short stature hpo:HP_0003510 Short stature, severe hpo:HP_0003512 Adult female height 130-157 cm hpo:HP_0003515 Increased linear growth hpo:HP_0003518 Adult male height 142-169 cm hpo:HP_0003520 Rhizomelic dwarfism hpo:HP_0003521 Short stature, disproportionate (short trunk) hpo:HP_0003523 Short-limb dwarfism identifiable during childhood hpo:HP_0003538 Increased serum iduronate sulfatase activity hpo:HP_0003541 Dermatan and heparan sulfate excretion in urine hpo:HP_0003561 Birth length 3rd percentile hpo:HP_0003562 Abnormal metaphyseal vascular invasion hpo:HP_0003567 Mucopolysacchariduria hpo:HP_0003577 Congenital onset hpo:HP_0003581 Adult onset hpo:HP_0003590 hpo:HP_0003593 Infantile onset hpo:HP_0003616 premature separation of centromeric heterochromatin hpo:HP_0003621 hpo:HP_0003635 Loss of subcutaneous adipose tissue in limbs hpo:HP_0003653 Metachromasia of white blood cells and fibroblasts hpo:HP_0003674 Onset hpo:HP_0003676 Progressive disorder hpo:HP_0003691 Scapular winging hpo:HP_0003701 Proximal muscle weakness hpo:HP_0003712 Muscle hypertrophy hpo:HP_0003717 Minimal subcutaneous fat hpo:HP_0003745 C0205422 Sporadic hpo:HP_0003761 Calcinosis hpo:HP_0003764 Abnormal or excess nevi hpo:HP_0003769 All cases sporadic hpo:HP_0003778 Short mandibular rami hpo:HP_0003779 Antegonial notching of mandible hpo:HP_0003811 Neonatal death hpo:HP_0003812 Phenotypic variability hpo:HP_0003819 Death in childhood hpo:HP_0003823 Stillborn or death in infancy hpo:HP_0003824 Death in majority of infants soon after birth hpo:HP_0003826 Stillborn or neonatal death hpo:HP_0003828 Variable expressivity hpo:HP_0003829 Incomplete penetrance hpo:HP_0003952 Sclerotic foci of metaphyses of the elbow hpo:HP_0003974 Absent ossification/absence of radius hpo:HP_0003977 Deformed radius hpo:HP_0004050 Absent hands hpo:HP_0004058 Monodactyly hpo:HP_0004060 Trident abnormality hpo:HP_0004097 Deviated fingers hpo:HP_0004122 Midline defect of the nose hpo:HP_0004209 Clinodactyly of the 5th finger hpo:HP_0004220 Hypoplastic/small middle phalanx of the 5th finger hpo:HP_0004232 Accessory carpal bones hpo:HP_0004233 Advanced maturation/advanced ossification of carpal bones hpo:HP_0004236 Irregular carpal bones hpo:HP_0004241 Stippled calcification in carpal bones hpo:HP_0004279 Hypoplastic hand hpo:HP_0004313 Hypogammaglobulinemia hpo:HP_0004315 Decreased IgG level hpo:HP_0004322 Short stature hpo:HP_0004325 hpo:HP_0004331 Decreased skull ossification hpo:HP_0004334 Dermal atrophy hpo:HP_0004370 Abnormality of temperature regulation hpo:HP_0004380 Aortic valve calcification hpo:HP_0004382 Mitral valve calcification hpo:HP_0004383 Hypoplastic left heart hpo:HP_0004389 Intestinal pseudo-obstruction hpo:HP_0004397 Ectopic anus hpo:HP_0004407 Bony paranasal bossing hpo:HP_0004411 Deviated nasal septum hpo:HP_0004415 Pulmonary artery stenosis hpo:HP_0004423 Cranium bifidum occultum hpo:HP_0004425 Flattened forehead hpo:HP_0004437 Cranial hyperostosis hpo:HP_0004440 Coronal craniosynostosis hpo:HP_0004442 Sagittal craniosynostosis hpo:HP_0004450 Preauricular skin furrow hpo:HP_0004453 Overfolding of the superior helices hpo:HP_0004467 Preauricular pit hpo:HP_0004468 Anomalous tracheal cartilage hpo:HP_0004472 Hyperostoses of calvaria, facial bones, and mandible hpo:HP_0004474 Persistent open anterior fontanelle hpo:HP_0004475 Anterior fontanelle open in adults hpo:HP_0004476 Aplasia cutis congenita over parietal area hpo:HP_0004477 occasional clover-leaf skull hpo:HP_0004479 Occasional brachycephaly hpo:HP_0004482 Relative macrocephaly hpo:HP_0004487 Acrobrachycephaly hpo:HP_0004489 Frontal and occipital prominence hpo:HP_0004490 Calvarial hyperostosis hpo:HP_0004491 Large posterior fontanelle hpo:HP_0004493 Craniofacial hyperostosis hpo:HP_0004495 Thin anteverted nares hpo:HP_0004499 chronic rhinitis due to narrow nasal airway hpo:HP_0004501 Broad upturned nasal tip hpo:HP_0004506 small nose with low nasal bridge hpo:HP_0004531 sparse eyebrows, eyelashes, and beard hpo:HP_0004538 fine, sparse, light-colored hair hpo:HP_0004558 cervical platyspondyly hpo:HP_0004559 flat oval-shaped vertebral bodies hpo:HP_0004562 beaking of vertebral bodies t12-l3 hpo:HP_0004565 severe platyspondyly hpo:HP_0004568 Beaking of vertebral bodies hpo:HP_0004569 flattening and anterior beaking of vertebral bodies hpo:HP_0004570 Increased vertebral height hpo:HP_0004576 Sclerotic vertebral endplates hpo:HP_0004583 mild irregularity of vertebral endplates hpo:HP_0004586 Biconcave vertebral bodies hpo:HP_0004590 Hypoplastic sacrum hpo:HP_0004592 thoracic platyspondyly hpo:HP_0004594 hump-shaped mound of bone in central and posterior portions of vertebral endplate hpo:HP_0004595 platyspondyly with anterior wedging hpo:HP_0004598 platyspondyly with multiple extra ossification centers hpo:HP_0004599 Absent or minimally ossified vertebral bodies hpo:HP_0004601 spina bifida occulta at l5 or s1 hpo:HP_0004603 Hyperconvex vertebral body endplates hpo:HP_0004605 Absent vertebral body mineralization hpo:HP_0004606 Unossified vertebral bodies hpo:HP_0004607 anterior beaking of lower thoracic and lumbar vertebrae hpo:HP_0004608 Anteriorly placed odontoid process hpo:HP_0004611 Anterior concavity of thoracic vertebrae hpo:HP_0004612 cervical spine segmentation defects hpo:HP_0004616 Cleft vertebral arches hpo:HP_0004618 Sandwich appearance of vertebral bodies hpo:HP_0004619 lumbar kyphoscoliosis hpo:HP_0004625 Biconvex vertebral bodies hpo:HP_0004629 small cervical vertebral bodies hpo:HP_0004630 anterior beaking of thoracic and lumbar vertebrae hpo:HP_0004633 lower thoracic kyphosis hpo:HP_0004635 cervical vertebrae fusion, usually at c5 to c6 hpo:HP_0004637 decreased cervical spine mobility hpo:HP_0004648 Prominent chin with central dimple hpo:HP_0004654 prominent, long philtrum hpo:HP_0004660 hypoplasia of facial musculature hpo:HP_0004674 high, narrow forehead hpo:HP_0004675 Minor facial dysmorphism hpo:HP_0004676 prominent supraorbital arches in adult hpo:HP_0004679 Large tarsal bones hpo:HP_0004686 short third, fourth, fifth metatarsals hpo:HP_0004688 Irregular tarsal bones hpo:HP_0004689 short fourth metatarsals hpo:HP_0004691 2-3 toe syndactyly hpo:HP_0004692 4-5 toe syndactyly hpo:HP_0004695 calcaneal epiphyseal stippling hpo:HP_0004698 postaxial polydactyly fingers/toes hpo:HP_0004700 short, broad laterally deviated halluces hpo:HP_0004701 Hypoplasia of the toes hpo:HP_0004703 2-3 or 4-5 toe syndactyly hpo:HP_0004712 Malrotation of the kidney hpo:HP_0004735 Structural anomalies of the renal tract hpo:HP_0004736 Ectopic kidney with fusion hpo:HP_0004742 Abnormality of the renal collecting system hpo:HP_0004746 membranoproliferative glomerulonephritis type ii hpo:HP_0004770 sparse, slow-growing hair hpo:HP_0004775 sparse-absent scalp hair hpo:HP_0004792 Rectoperineal fistula hpo:HP_0004796 Gastrointestinal obstruction hpo:HP_0004804 Congenital hemolytic anemia hpo:HP_0004808 Acute myeloid leukemia hpo:HP_0004810 Congenital hypoplastic anemia hpo:HP_0004847 extramedullary erythropoiesis hpo:HP_0004871 Perineal fistula hpo:HP_0004872 Recurrent or incisional hernia hpo:HP_0004912 hypophosphatemic rickets hpo:HP_0004921 hpo:HP_0004927 pulmonary artery dilatation hpo:HP_0004933 ascending aortic dissection hpo:HP_0004937 pulmonary artery aneurysm hpo:HP_0004939 hypertrophy of the pulmonary artery wall hpo:HP_0004944 Cerebral aneurysm hpo:HP_0004954 Descending aortic aneurysm hpo:HP_0004955 Arterial tortuosity, generalized hpo:HP_0004957 peripheral pulmonary stenosis hpo:HP_0004962 Thoracic aorta calcification hpo:HP_0004971 pulmonary artery hypoplasia hpo:HP_0004975 hpo:HP_0004976 Dislocations of the knees hpo:HP_0004977 bilateral absence of radius hpo:HP_0004978 Splayed epiphyses and metaphyses hpo:HP_0004979 Sclerotic, widened metaphyses hpo:HP_0004980 Rarefaction of the metaphyses hpo:HP_0004982 Flat, irregular epiphyses hpo:HP_0004983 short, broad tubular bones hpo:HP_0004985 Knee and ankle contractures hpo:HP_0004986 Rudimentary to absent fibulae hpo:HP_0004988 shortened long tubular bones hpo:HP_0004989 absent or hypoplastic radii hpo:HP_0004991 rhizomelic arm shortening hpo:HP_0004992 Dislocations of the wrists hpo:HP_0004994 long, flared metaphyses hpo:HP_0004997 Multicentric ossification of proximal humeral epiphyses hpo:HP_0004999 genu valgum or genu varum hpo:HP_0005000 short tubular bones with mild metaphyseal flare hpo:HP_0005003 Aplasia/Hypoplasia of the capital femoral epiphysis hpo:HP_0005004 Flattened proximal radial epiphyses hpo:HP_0005008 Large joint dislocations hpo:HP_0005009 short, dumbbell-shaped humeri hpo:HP_0005013 Dysplastic distal radial epiphyses hpo:HP_0005017 polyarticular chondrocalcinosis hpo:HP_0005018 enlarged, poorly modeled metaphyses hpo:HP_0005019 Diaphyseal thickening hpo:HP_0005022 mild, lateral femoral bowing hpo:HP_0005023 small, flattened irregular epiphyses hpo:HP_0005025 hypoplastic distal humerii hpo:HP_0005028 Widened proximal tibial metaphyses hpo:HP_0005029 short, thickened tubular bones hpo:HP_0005030 diminished joint mobility at elbows, knees, and hips hpo:HP_0005032 Irregular mushroomed metaphyses hpo:HP_0005035 short phalanges both hands and feet hpo:HP_0005037 Proximal radio-ulnar synostosis hpo:HP_0005038 Widened, irregular metaphyses hpo:HP_0005039 multiple exostoses of long tubular bones hpo:HP_0005041 Small, irregular capital femoral epiphyses hpo:HP_0005042 Irregular, rachitic-like metaphyses hpo:HP_0005044 very short, broad tubular bones hpo:HP_0005045 diaphyseal cortical sclerosis hpo:HP_0005046 hypoplastic/absent/deformed radius hpo:HP_0005047 camptodactyly with ulnar deviation hpo:HP_0005048 Synostosis of carpal bones hpo:HP_0005050 anterior/lateral radial head dislocation hpo:HP_0005051 Small, flattened epiphyses hpo:HP_0005054 Wide metaphyses with lateral spurs hpo:HP_0005056 absent carpals, metacarpals, and phalanges hpo:HP_0005060 limited elbow flexion/extension hpo:HP_0005061 short, dumbbell appearance of long bones hpo:HP_0005062 Sclerotic, irregular metaphyses hpo:HP_0005063 Fragmented, irregular epiphyses hpo:HP_0005064 short, slender long bones hpo:HP_0005065 Mild metaphyseal irregularities hpo:HP_0005067 Proximal fibular overgrowth hpo:HP_0005068 absent styloid processes hpo:HP_0005075 Dumbbell-shaped short long bones hpo:HP_0005077 slightly short long bones hpo:HP_0005079 short, broad dumbbell-shaped tubular bones with irregular metaphyses hpo:HP_0005082 flattened, enlarged epiphyses hpo:HP_0005084 anterior dislocation of radial head hpo:HP_0005085 limited knee flexion/extension hpo:HP_0005086 Knee osteoarthritis hpo:HP_0005089 Abnormal metaphyseal trabeculation hpo:HP_0005090 lateral femoral bowing hpo:HP_0005092 irregular, flared metaphyses with streaky sclerosis hpo:HP_0005103 Cartilaginous ossification of pinnae hpo:HP_0005104 Hypoplastic nasal septum hpo:HP_0005116 Arterial tortuosity hpo:HP_0005121 Posterior scalloping of vertebral bodies hpo:HP_0005136 Premature calcification of mitral annulus hpo:HP_0005148 Pulmonary valve defects hpo:HP_0005151 Proximal aortic coarctation hpo:HP_0005160 Total anomalous pulmonary venous return hpo:HP_0005182 Bicuspid pulmonary valve hpo:HP_0005198 Stiff interphalangeal joints hpo:HP_0005209 Intrahepatic bile duct cysts hpo:HP_0005211 Midgut malrotation hpo:HP_0005255 Absence of pectoralis minor muscle hpo:HP_0005256 Unilateral hypoplasia or absence of pectoralis major muscle hpo:HP_0005257 Thoracic hypoplasia hpo:HP_0005258 Pectoral muscle hypoplasia/aplasia hpo:HP_0005259 Abnormal facility in opposing the shoulders hpo:HP_0005268 Increased risk of spontaneous abortion hpo:HP_0005269 Broad, square nasal tip hpo:HP_0005275 Cartilaginous ossification of nose hpo:HP_0005278 Hypoplastic nasal tip hpo:HP_0005279 Flattened nasal tip hpo:HP_0005280 Depressed nasal bridge hpo:HP_0005281 Hypoplastic nasal bridge hpo:HP_0005282 Broad notched nasal tip hpo:HP_0005283 Thin, long, pointed nose hpo:HP_0005284 Broad, flat nasal root hpo:HP_0005292 Intimal thickening in the coronary arteries hpo:HP_0005303 Aortic arch calcification hpo:HP_0005306 Capillary hemangiomas hpo:HP_0005316 Peripheral pulmonary vessel aplasia hpo:HP_0005330 Small pointed chin hpo:HP_0005343 Hypoplasia of the bladder hpo:HP_0005347 Cartilaginous trachea hpo:HP_0005349 Hypoplasia of the epiglottis hpo:HP_0005360 Susceptibility to chickenpox hpo:HP_0005374 Cellular immunodeficiency hpo:HP_0005442 Widely patent coronal suture hpo:HP_0005446 Small mandible with obtuse angle hpo:HP_0005450 Calvarial osteosclerosis hpo:HP_0005452 Obliteration of frontal sinuses hpo:HP_0005453 Absent/hypoplastic paranasal sinuses hpo:HP_0005457 Craniosynostosis of coronal, lambdoid, and/or metopic sutures hpo:HP_0005459 Severe cloverleaf skull hpo:HP_0005462 Calcification of falx cerebri hpo:HP_0005463 Elongated sella turcica hpo:HP_0005464 Craniofacial hyperostosis and sclerosis hpo:HP_0005465 Hyperostosis of facial bones hpo:HP_0005468 Foramen magnum stenosis hpo:HP_0005469 Flat occiput hpo:HP_0005472 Orbital craniosynostosis hpo:HP_0005474 Poorly ossified calvaria hpo:HP_0005476 Widely patent sagittal suture hpo:HP_0005477 Progressive sclerosis of skull base hpo:HP_0005528 Bone marrow hypoplasia hpo:HP_0005548 Megakaryocytopenia hpo:HP_0005565 Absent/poor corticomedullary differentiation hpo:HP_0005613 Aplasia/hypoplasia of the femur hpo:HP_0005616 Accelerated skeletal maturation hpo:HP_0005619 Thoracolumbar kyphosis hpo:HP_0005624 Short second and third or third and fourth metacarpals hpo:HP_0005632 Absent forearm hpo:HP_0005647 Shortened bowed long bones hpo:HP_0005652 Cortical sclerosis hpo:HP_0005680 Tongue-like lumbar vertebral deformities hpo:HP_0005681 Rheumatoid arthritis, juvenile hpo:HP_0005688 Dysplastic distal thumb phalanges with a central hole hpo:HP_0005694 Partial fusion of proximal row of carpal bones hpo:HP_0005701 Multiple enchondromatosis hpo:HP_0005707 Bilateral digitalized thumbs hpo:HP_0005717 Short stubby metacarpals and phalanges hpo:HP_0005718 Radial aplasia/hypoplasia hpo:HP_0005719 Mild vertebral anomalies hpo:HP_0005731 Cortical irregularity hpo:HP_0005733 hpo:HP_0005736 Hypoplastic tibia hpo:HP_0005743 hpo:HP_0005748 Absent distal phalanges of index fingers and second toes hpo:HP_0005756 Epiphyseal stippling in neonates hpo:HP_0005765 Sacral meningocele hpo:HP_0005766 Disproportionate shortening of the tibia hpo:HP_0005768 Soft tissue syndactyly of toes 2, 3, and 4 hpo:HP_0005769 Fifth finger distal phalanx clinodactyly hpo:HP_0005789 Osteosclerosis, diffuse symmetrical hpo:HP_0005792 Humeral hypoplasia hpo:HP_0005793 Absent/hypoplastic distal phalanges of hands and feet hpo:HP_0005795 Short tapering fingers hpo:HP_0005807 Absent distal phalanges hpo:HP_0005817 Hallucal and postaxial polysyndactyly of the feet hpo:HP_0005827 Incipient distal thumb phalanx duplication hpo:HP_0005841 Calcific stippling of infantile cartilaginous skeleton hpo:HP_0005846 Thumb replaced by one or two triphalangeal digits hpo:HP_0005864 Pseudoarthrosis hpo:HP_0005866 Opposable triphalangeal thumbs hpo:HP_0005871 Metaphyseal chondrodysplasia hpo:HP_0005891 Progressive forearm curvature hpo:HP_0005895 Radial deviation of thumb terminal phalanx hpo:HP_0005898 Short first metacarpals and first metatarsals hpo:HP_0005900 Fifth metacarpal notched on ulnar side hpo:HP_0005902 Straight and short clavicles hpo:HP_0005908 Diaphyseal bowing of long bones hpo:HP_0005910 Rhomboid or triangular shaped 5th finger middle phalanx hpo:HP_0005914 Aplasia/Hypoplasia involving the metacarpal bones hpo:HP_0005985 Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele hpo:HP_0005995 Decreased adipose tissue around neck hpo:HP_0006004 Short third, fourth, fifth metacarpals hpo:HP_0006008 Unilateral brachydactyly hpo:HP_0006016 Severe delay in phalangeal epiphyseal bone maturation hpo:HP_0006017 Disproportionate shortening of 2nd and 3rd fingers hpo:HP_0006022 Ulnar deviation of 2nd, 3rd finger hpo:HP_0006028 Metaphyseal cupping of metacarpals hpo:HP_0006029 Small, irregular carpal bones hpo:HP_0006030 Short, wide phalanges hpo:HP_0006035 Cone-shaped epiphyses of phalanges 2 to 5 hpo:HP_0006040 Long second metacarpal hpo:HP_0006042 Y-shaped metacarpals hpo:HP_0006046 Pre- or postaxial polydactyly hpo:HP_0006047 Mild shortening of metacarpals hpo:HP_0006048 Distal widening of metacarpals hpo:HP_0006058 Cone-shaped epiphyses of middle and proximal phalanges hpo:HP_0006060 Tombstone-shaped proximal phalanges hpo:HP_0006062 5th finger clino-camptodactyly hpo:HP_0006065 Short, broad metacarpals hpo:HP_0006067 Multiple carpal ossification centers hpo:HP_0006069 Severe carpal ossification delay hpo:HP_0006072 Small, irregular carpals hpo:HP_0006073 Short, broad proximal phalanx of thumb hpo:HP_0006077 Absent proximal finger flexion creases hpo:HP_0006081 Short/broad middle phalanges hpo:HP_0006082 Absent distal and middle phalanges hpo:HP_0006083 Variable fifth finger clinodactyly hpo:HP_0006084 Aplastic carpal bone hpo:HP_0006088 1-5 finger complete cutaneous syndactyly hpo:HP_0006092 Malaligned carpal bone hpo:HP_0006093 Progressive brachydactyly of middle and distal phalanges hpo:HP_0006095 Wide tufts of distal phalanges hpo:HP_0006097 3-4 finger syndactyly hpo:HP_0006101 Finger syndactyly hpo:HP_0006105 Eburnated epiphyses of distal phalanges hpo:HP_0006110 Disproportionately short middle phalanges hpo:HP_0006112 Expanded phalanges with widened medullary cavities hpo:HP_0006115 Brachydactyly e-like changes hpo:HP_0006118 Hypoplastic distal and middle phalanges hpo:HP_0006119 Proximal tapering of metacarpals hpo:HP_0006127 Long, slender middle and proximal phalanges hpo:HP_0006128 Brachydactyly, complex hpo:HP_0006135 Decreased finger mobility hpo:HP_0006137 Finger and wrist contractures hpo:HP_0006140 Premature fusion of phalangeal epiphyses hpo:HP_0006141 Short 1st, 4th, 5th metacarpals hpo:HP_0006144 Short proximal and middle phalanges hpo:HP_0006146 Thin metacarpals with broad epiphyses hpo:HP_0006155 Wide and elongated phalanges hpo:HP_0006159 Central polydactyly (hands) hpo:HP_0006160 Hypoplastic, irregular metacarpals hpo:HP_0006161 Short metacarpals with rounded proximal ends hpo:HP_0006162 Soft tissue swelling of interphalangeal joints hpo:HP_0006163 Enlarged metacarpophalangeal joints hpo:HP_0006165 Proportionate shortening of all digits hpo:HP_0006172 Flattened, squared-off epiphyses of tubular bones hpo:HP_0006179 Pseudoepiphyses of second metacarpal hpo:HP_0006180 Crowded carpal bones hpo:HP_0006181 Clinodactyly, 3,5 finger hpo:HP_0006185 Enlarged proximal interphalangeal joints hpo:HP_0006187 Fusion of midphalangeal joints hpo:HP_0006190 Radially deviated wrists hpo:HP_0006193 Broad, thimble-like middle phalanges hpo:HP_0006194 Separate triphalangeal thumb hpo:HP_0006196 Bifid terminal phalanges digits 2 and 3 hpo:HP_0006199 Short, broad distal phalanges hpo:HP_0006200 Widened distal phalanges hpo:HP_0006204 Disharmonic maturation of phalanges and carpal bones hpo:HP_0006205 Short, irregular phalanges hpo:HP_0006206 Hypersegmentation of proximal and middle 2nd, 3rd phalanges hpo:HP_0006207 Partial fusion of carpals hpo:HP_0006208 Metaphyseal cupping of proximal phalanges hpo:HP_0006212 Short 2nd, 3rd middle phalanges hpo:HP_0006213 Thin proximal phalanges with broad epiphyses hpo:HP_0006227 Small, irregular carpal centers hpo:HP_0006228 Valgus hand deformity hpo:HP_0006230 Unilateral oligodactyly hpo:HP_0006232 Expanded metacarpals with widened medullary cavities hpo:HP_0006234 Osteolysis involving tarsal bones hpo:HP_0006237 Prominent interphalangeal joints hpo:HP_0006239 Brachymesophalangy of hands and feet hpo:HP_0006241 Broad, square ends of distal phalanges hpo:HP_0006243 Phalangeal dislocations hpo:HP_0006247 Enlarged interphalangeal joints hpo:HP_0006253 Swelling of proximal interphalangeal joints hpo:HP_0006267 Placental enlargement hpo:HP_0006274 Reduced pancreatic beta cells hpo:HP_0006285 Hypomineralization of enamel hpo:HP_0006288 Advanced eruption of teeth hpo:HP_0006297 Hypoplasia of dental enamel hpo:HP_0006307 Small, widely spaced teeth hpo:HP_0006315 hpo:HP_0006323 Premature loss of primary teeth hpo:HP_0006335 Persistence of primary teeth hpo:HP_0006349 Agenesis of permanent teeth hpo:HP_0006353 Hypoplasia of the tooth germ hpo:HP_0006357 Premature loss of permanent teeth hpo:HP_0006360 Radiolucent metaphyses have abnormal trabecular pattern hpo:HP_0006361 Irregular femoral epiphyses hpo:HP_0006362 Varus deformity of humeral neck hpo:HP_0006365 Proximal radial shortening hpo:HP_0006375 Short, dumbbell femur hpo:HP_0006376 Limited elbow flexion hpo:HP_0006377 Metaphyseal chondrodysplasia of long bones hpo:HP_0006380 Knee flexion deformities hpo:HP_0006381 Rudimentary fibula hpo:HP_0006382 Short, bent long bones hpo:HP_0006383 Progressive bowing of long bones hpo:HP_0006384 Club-shaped distal femur hpo:HP_0006385 Short lower limbs hpo:HP_0006386 Hypoplastic distal radial epiphyses hpo:HP_0006388 Hypoplastic/absent/deformed ulna hpo:HP_0006389 Limited knee flexion hpo:HP_0006390 Anterior bowing of tibia hpo:HP_0006394 Limited pronation/supination of forearm hpo:HP_0006397 Lateral displacement of patellae hpo:HP_0006400 Absent knee epiphyses hpo:HP_0006402 Distal shortening of limbs hpo:HP_0006406 Club-shaped proximal femurs hpo:HP_0006407 Small, irregular distal femoral epiphyses hpo:HP_0006408 Short femora with proximal clubbing and distal tapering hpo:HP_0006409 Progressive leg bowing hpo:HP_0006413 Broad tibial metaphyses hpo:HP_0006414 Bowing of the distal tibia hpo:HP_0006415 Cortically dense long tubular bones hpo:HP_0006418 Progressive shortening of radius in first year hpo:HP_0006419 Variable humeri hypoplasia hpo:HP_0006424 Elongated radius with hypoplasia of radial head hpo:HP_0006427 Severe metaphyseal changes of long bones hpo:HP_0006428 Bowed, short lower extremities hpo:HP_0006429 Broad femoral neck hpo:HP_0006431 Metaphyseal abnormalities of distal and proximal femurs hpo:HP_0006432 Trapezoidal distal femoral condyles hpo:HP_0006436 Shortening of the tibia hpo:HP_0006437 Disproportionate prominence of the femoral medial condyle hpo:HP_0006438 Enlargement of the distal femoral epiphysis hpo:HP_0006439 Radioulnar dislocation hpo:HP_0006440 Increased density of long bone diaphyses hpo:HP_0006443 Patellar aplasia hpo:HP_0006450 Multicentric ossification of proximal femoral epiphyses hpo:HP_0006451 Congenital bowing of the long bones hpo:HP_0006452 Marked shortness and bowing of long bones hpo:HP_0006453 Lateral displacement of the femoral he hpo:HP_0006454 Severely delayed patellae ossification hpo:HP_0006456 Small, irregular proximal tibial epiphyses hpo:HP_0006459 Dorsal subluxation of ulna hpo:HP_0006461 Proximal femoral epiphysiolysis hpo:HP_0006464 Mild humeral shortening hpo:HP_0006466 Contractures of the ankles hpo:HP_0006467 Limited shoulder movement hpo:HP_0006472 Short, broad, bowed long bones hpo:HP_0006473 Anterior bowing of long bones hpo:HP_0006477 Abnormality of the alveolar ridges hpo:HP_0006480 Premature loss of teeth hpo:HP_0006482 hpo:HP_0006487 Bowing of the long bones hpo:HP_0006492 Aplasia/Hypoplasia of the fibula hpo:HP_0006495 hpo:HP_0006498 Aplasia/Hypoplasia of the patella hpo:HP_0006499 hpo:HP_0006532 Pneumonia, recurrent episodes hpo:HP_0006557 Polycystic liver disease hpo:HP_0006563 Malformation of the hepatic ductal plate hpo:HP_0006584 Small abnormally formed scapulae hpo:HP_0006587 Long, straight clavicles hpo:HP_0006589 Flaring of lower rib cage hpo:HP_0006591 Flat or absent glenoid fossae hpo:HP_0006593 Anomalous rib insertion to vertebrae hpo:HP_0006598 Irregular ossification at anterior rib ends hpo:HP_0006600 Progressive calcification of costochondral cartilage hpo:HP_0006601 Anteriorly splayed ribs hpo:HP_0006606 Irregular chondrocostal junctions hpo:HP_0006607 Precocious costochondral ossification hpo:HP_0006610 Wide intermamillary distance hpo:HP_0006611 Decreased number of sternal ossification centers hpo:HP_0006612 Clavicle pseudoarthrosis hpo:HP_0006615 Absent in utero rib ossification hpo:HP_0006619 Anterior rib punctate calcifications hpo:HP_0006622 Anterior and posterior rib cupping hpo:HP_0006628 Absent sternal ossification hpo:HP_0006633 Glenoid hypoplasia hpo:HP_0006635 Anterior and posterior rib flaring hpo:HP_0006637 Sternal punctate calcifications hpo:HP_0006642 Large sternal ossification centers hpo:HP_0006645 Thin, long clavicles hpo:HP_0006650 Thickening of the lateral border of the scapula hpo:HP_0006654 Absent sternal mineralization hpo:HP_0006657 Hypoplasia of first ribs hpo:HP_0006660 Aplastic clavicles hpo:HP_0006662 Cartilaginous ossification of rib hpo:HP_0006726 Increased risk of leukemia hpo:HP_0006765 Chondrosarcoma hpo:HP_0006784 Paranasal sinus hypoplasia hpo:HP_0006801 Hyperactive deep tendon reflexes hpo:HP_0006824 Cranial nerve paralysis hpo:HP_0006844 Absent patellar reflexes hpo:HP_0006854 Mental deterioration in childhood hpo:HP_0006863 Severe expressive language delay hpo:HP_0006872 Cerebral hypoplasia hpo:HP_0006931 Lipoma of corpus callosum hpo:HP_0006956 hpo:HP_0006960 Choroid plexus calcification hpo:HP_0006970 Periventricular leukomalacia hpo:HP_0006992 Anterior basal encephalocele hpo:HP_0007099 Arnold-Chiari type I malformation hpo:HP_0007108 Demyelinating peripheral neuropathy hpo:HP_0007145 Cervical cord compression myelopathy hpo:HP_0007150 Dementia, presenile, progressive, beginning around age 30 years hpo:HP_0007163 Corticospinal tract disease in lower limbs hpo:HP_0007165 Periventricular gray matter heterotopias hpo:HP_0007187 Focal lissencephaly hpo:HP_0007205 Demyelinating peripheral neuropathy, progressive hpo:HP_0007209 Facial paralysis due to cranial nerve VII compression hpo:HP_0007232 Spinocerebellar tract disease in lower limbs hpo:HP_0007285 Facial palsy, secondary to cranial hyperostosis hpo:HP_0007293 Anterior sacral meningocele hpo:HP_0007300 Severe delay in myelination hpo:HP_0007313 Cerebral degeneration hpo:HP_0007328 Decreased pain sensation hpo:HP_0007330 Frontal encephalocele hpo:HP_0007333 Hypoplasia of the frontal lobes hpo:HP_0007343 Limbic malformations hpo:HP_0007370 Aplasia/Hypoplasia of the corpus callosum hpo:HP_0007385 Aplasia cutis congenita of scalp hpo:HP_0007391 Redundant skin folds hpo:HP_0007397 Axillary apocrine gland hypoplasia hpo:HP_0007403 Hypertrophy of skin of soles hpo:HP_0007414 Neonatal wrinkled skin of hands and feet hpo:HP_0007431 Congenital ichthyosiform erythroderma hpo:HP_0007452 Midface capillary hemangioma hpo:HP_0007469 Cutis gyrata of palms and soles hpo:HP_0007485 Absence of subcutaneous fat hpo:HP_0007493 Mild skin hyperextensibility hpo:HP_0007513 hpo:HP_0007516 Loose, redundant skin on fingers hpo:HP_0007541 Frontal cutaneous lipoma hpo:HP_0007567 Thin, atrophic scars hpo:HP_0007589 Aplasia cutis congenita on trunk or limbs hpo:HP_0007590 Aplasia cutis congenita over posterior parietal area hpo:HP_0007595 Redundant skin in infancy hpo:HP_0007601 Midline facial capillary hemangioma hpo:HP_0007610 Blotching pigmentation of the skin hpo:HP_0007626 Mandibular osteomyelitis hpo:HP_0007660 Increased corneal diameter hpo:HP_0007665 Curly eyelashes hpo:HP_0007676 Hypoplasia of the iris hpo:HP_0007678 Nasolacrimal duct stenosis hpo:HP_0007740 Long eyelashes in irregular rows hpo:HP_0007752 Decreased retinal pigmentation hpo:HP_0007754 Macular dystrophy hpo:HP_0007766 Hypoplastic optic disks hpo:HP_0007772 Impaired smooth pursuit hpo:HP_0007773 Vitreoretinal abnormalities hpo:HP_0007776 Partial absence of lower eyelashes hpo:HP_0007785 Partial-total absence of lower eyelashes hpo:HP_0007800 Increased axial globe length hpo:HP_0007807 Optic nerve compression hpo:HP_0007844 Anterior corneal lens opacities hpo:HP_0007862 Retinal calcification hpo:HP_0007892 Aplastic/hypoplastic lacrimal puncta hpo:HP_0007896 Corneal opacities on slit-lamp exam hpo:HP_0007930 Prominent epicanthal folds hpo:HP_0007957 Variable degree of corneal opacities hpo:HP_0007958 Optic atrophy from cranial nerve compression hpo:HP_0007961 Rarefaction of retinal pigmentation hpo:HP_0008002 Macular pigmentary changes hpo:HP_0008034 Abnormal iris pigmentation hpo:HP_0008037 Absent anterior eye chamber hpo:HP_0008038 Aplastic/hypoplastic lacrimal glands hpo:HP_0008064 hpo:HP_0008070 Sparse hair hpo:HP_0008072 Maternal virilization hpo:HP_0008073 Low maternal serum estriol hpo:HP_0008080 Hallux varus hpo:HP_0008081 Valgus foot deformity hpo:HP_0008082 Medial deviation of the foot hpo:HP_0008083 2nd-5th toe middle phalangeal hypoplasia hpo:HP_0008087 Nonossified fifth metatarsal hpo:HP_0008088 Short, tapering toes hpo:HP_0008089 Anomalous fifth metatarsal hpo:HP_0008093 Short fourth and fifth toes hpo:HP_0008096 Medially deviated second toe hpo:HP_0008097 Partial fusion of tarsals hpo:HP_0008102 Expanded metatarsals with widened medullary cavities hpo:HP_0008103 Delayed tarsal ossification hpo:HP_0008107 Plantar crease between first and second toes hpo:HP_0008108 Advanced tarsal ossification hpo:HP_0008110 Equinovarus deformity hpo:HP_0008111 Broad distal hallux hpo:HP_0008117 Shortening of the talar neck hpo:HP_0008119 Deformed tarsal bones hpo:HP_0008127 Bipartite calcaneus hpo:HP_0008128 Flexion contractures of the toes hpo:HP_0008131 Punctate calcifications of tarsals hpo:HP_0008132 Medial rotation of the medial malleolus hpo:HP_0008134 Defective, irregular tarsal ossification hpo:HP_0008135 Hypoplastic feet hpo:HP_0008142 Absent talus and calcaneal ossification in infancy hpo:HP_0008144 Flattening of the talar dome hpo:HP_0008153 Periodic hypokalemic paresis hpo:HP_0008166 hpo:HP_0008180 Mildly elevated creatine phosphokinase hpo:HP_0008188 Thyroid dysplasia/aplasia hpo:HP_0008199 Neonatal hypoparathyroidism hpo:HP_0008200 Primary hyperparathyroidism hpo:HP_0008254 Neonatal primary hyperparathyroidism hpo:HP_0008271 Abnormal cartilage collagen on EM hpo:HP_0008285 Transient hypophosphatemia hpo:HP_0008301 Dermatan sulfate excretion in urine hpo:HP_0008341 Renal tubular acidosis, type i hpo:HP_0008362 Aplasia/Hypoplasia of the hallux hpo:HP_0008363 Aplasia/Hypoplasia of the tarsal bones hpo:HP_0008368 Synostosis involving tarsal bones hpo:HP_0008374 hpo:HP_0008384 Aplastic/hypoplastic fingernails hpo:HP_0008386 Aplasia/Hypoplasia of the nails hpo:HP_0008398 Hypoplastic to absent fifth finger- and toenails hpo:HP_0008414 Lumbar kyphosis in infancy hpo:HP_0008417 Vertebral hypoplasia hpo:HP_0008418 Squared-off platyspondyly hpo:HP_0008420 Punctate vertebral calcifications hpo:HP_0008421 Tall lumbar vertebral bodies hpo:HP_0008422 Wedge-shaped vertebrae hpo:HP_0008428 Vertebral clefts hpo:HP_0008432 Anterior wedging of l1 and l2 hpo:HP_0008434 Hypoplastic cervical vertebrae hpo:HP_0008435 Absent in utero ossification of vertebral bodies hpo:HP_0008436 Absent/hypoplastic coccyx hpo:HP_0008440 C1-C2 vertebral abnormality hpo:HP_0008441 Herniation of intervertebral nuclei hpo:HP_0008442 Vertebral hyperostosis hpo:HP_0008449 Progressive cervical vertebral spine fusion hpo:HP_0008450 Narrow vertebral interpedicular distance hpo:HP_0008451 Posterior vertebral hypoplasia hpo:HP_0008453 Congenital kyphoscoliosis hpo:HP_0008454 Lumbar kyphosis hpo:HP_0008455 Dysplastic sacrum hpo:HP_0008456 C2-C3 subluxation hpo:HP_0008457 Caudal narrowing of interpedicular distances hpo:HP_0008460 Hypoplastic spinal processes hpo:HP_0008462 Cervical instability hpo:HP_0008465 Absent vertebrae hpo:HP_0008467 Thoracic hemivertebrae hpo:HP_0008470 Narrowness of interpediculate distances in lower thoracic regions hpo:HP_0008472 Prominent protruding coccyx hpo:HP_0008477 Hypoplastic, poorly ossified cervical vertebrae hpo:HP_0008479 Hypoplastic vertebral bodies hpo:HP_0008481 Mild odontoid hypoplasia hpo:HP_0008484 Narrow thoracolumbar interpediculate distance hpo:HP_0008486 Decreasing lumbar vertebrae interpediculate distance hpo:HP_0008488 Anterior rounding of vertebral bodies hpo:HP_0008495 Visual impairment from optic nerve compression hpo:HP_0008501 Median cleft lip/palate hpo:HP_0008530 Bilateral sensorineural deafness hpo:HP_0008549 Progressive cartilaginous ossification of pinnae hpo:HP_0008551 Hypoplasia of the external ear hpo:HP_0008557 Neonatal cystic lesions of the pinnae hpo:HP_0008559 hpo:HP_0008562 Poorly formed pinnae hpo:HP_0008588 Slit-like openings of the exterior auditory meatus hpo:HP_0008605 Unilateral external ear deformity hpo:HP_0008607 Progressive conductive deafness hpo:HP_0008608 Hypertrophic auricular cartilage hpo:HP_0008622 Recurrent otitis media in infancy and childhood hpo:HP_0008624 Recurrent otitis media in infancy hpo:HP_0008643 Nephroblastomatosis hpo:HP_0008665 Clitoral hypertrophy hpo:HP_0008683 Enlarged labia minora hpo:HP_0008694 Hypertrophic labia minora hpo:HP_0008702 Absent internal genitalia hpo:HP_0008721 Hypoplastic male genitalia hpo:HP_0008734 Decreased testicular size hpo:HP_0008740 Longitudinal vaginal septum hpo:HP_0008743 Coronal hypospadias hpo:HP_0008746 Bifid or hypoplastic epiglottis hpo:HP_0008747 Cartilaginous ossification of larynx hpo:HP_0008749 Laryngeal hypoplasia hpo:HP_0008751 Laryngeal cleft hpo:HP_0008754 Laryngeal calcifications hpo:HP_0008755 Laryngotracheomalacia hpo:HP_0008781 Short, wide femoral neck hpo:HP_0008786 Irregular, lacy iliac crests hpo:HP_0008788 Delayed pubic bone ossification hpo:HP_0008790 Widened proximal femoral metaphyses hpo:HP_0008792 Small flat capital femoral epiphyses hpo:HP_0008794 Dysplastic iliac wings hpo:HP_0008795 Delayed mineralization of pubic bone hpo:HP_0008797 Early ossification of capital femoral epiphyses hpo:HP_0008798 Widened, small sacrosciatic notches hpo:HP_0008800 Limited hip movement hpo:HP_0008801 Hypoplasia of the lesser trochanter hpo:HP_0008802 Hypoplasia of the femoral head hpo:HP_0008803 Narrow sacroiliac notch hpo:HP_0008807 Acetabular dysplasia hpo:HP_0008814 Broad, hypoplastic ischia hpo:HP_0008816 Hypoplastic pelvic bones hpo:HP_0008817 Aplastic pubic bones hpo:HP_0008818 Large, flared iliac wings hpo:HP_0008819 Narrow, short femoral neck hpo:HP_0008821 Hypoplastic inferior ilia hpo:HP_0008823 Hypoplastic inferior pubic rami hpo:HP_0008824 Hypoplastic iliac body hpo:HP_0008827 Absent pubic ossification in infancy hpo:HP_0008832 Flat, irregular acetabula hpo:HP_0008833 Irregular acetabular roof hpo:HP_0008837 Small iliac wings with concave inferior and medial margin hpo:HP_0008838 Stippled calcification proximal humeral epiphyses hpo:HP_0008839 hpo:HP_0008843 Hip osteoarthritis hpo:HP_0008845 Short stature, mesomelic hpo:HP_0008846 Severe intrauterine growth retardation hpo:HP_0008848 Moderately short stature hpo:HP_0008853 Progressive failure to thrive hpo:HP_0008855 Moderate growth deficiency hpo:HP_0008860 Mild growth deficiency hpo:HP_0008865 hpo:HP_0008867 Dwarfism, short-trunk, short-limbed hpo:HP_0008871 Height less than 3rd percentile hpo:HP_0008872 Feeding problems in infancy hpo:HP_0008873 Short stature, disproportionate short-limbed hpo:HP_0008876 Severe postnatal failure to thrive hpo:HP_0008878 Failure to thrive in survivors hpo:HP_0008883 Mild intrauterine growth retardation hpo:HP_0008887 Adipose tissue loss hpo:HP_0008892 Variable prenatal growth deficiency hpo:HP_0008893 Growth retardation, prenatal and postnatal hpo:HP_0008896 Mesomelic dwarfism hpo:HP_0008898 Lethal dwarfism identifiable at birth hpo:HP_0008902 Dwarfism, neonatal short-limbed hpo:HP_0008908 Variable mild short stature hpo:HP_0008916 Postnatal failure to thrive hpo:HP_0008917 Postnatal onset of mild growth retardation hpo:HP_0008921 Neonatal short-limbed dwarfism hpo:HP_0008930 Dwarfism recognizable at birth hpo:HP_0008947 Infantile muscular hypotonia hpo:HP_0008952 Shoulder muscle hypoplasia hpo:HP_0008962 Hypoplastic calf muscles hpo:HP_0008998 Pectoralis hypoplasia hpo:HP_0009002 Loss of subcutaneous truncal adipose tissue hpo:HP_0009004 Muscle hypoplasia hpo:HP_0009011 Hypoplasia of serratus anterior muscle hpo:HP_0009016 Upper limb muscle hypoplasia hpo:HP_0009026 Hypoplasia of latissimus dorsi muscle hpo:HP_0009034 Poorly developed skeletal musculature hpo:HP_0009044 Hypoplasia of deltoid muscle hpo:HP_0009064 Generalized lipodystrophy hpo:HP_0009080 Narrow, high-arched palate hpo:HP_0009085 Alveolar ridge overgrowth hpo:HP_0009092 Progressive alveolar ridge hypertropy hpo:HP_0009099 Median cleft palate hpo:HP_0009125 Lipodystrophy hpo:HP_0009126 Increased adipose tissue hpo:HP_0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger hpo:HP_0009164 Abnormal calcification of the carpal bones hpo:HP_0009177 Symphalangism of the middle and proximal phalanges of the 5th finger hpo:HP_0009183 Joint contractures of the 5th finger hpo:HP_0009193 Pseudoepiphyses of the metacarpals hpo:HP_0009237 Hypoplastic/small 5th finger hpo:HP_0009464 Ulnar deviation of the 2nd finger hpo:HP_0009465 Ulnar deviation of fingers hpo:HP_0009466 Radial deviation of fingers hpo:HP_0009467 Radial deviation of the 2nd finger hpo:HP_0009468 Deviation of the 2nd finger hpo:HP_0009486 Radial deviation of the hand hpo:HP_0009495 Pseudoepiphyses of the 2nd finger hpo:HP_0009536 Hypoplastic/small 2nd finger hpo:HP_0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger hpo:HP_0009592 Astrocytoma hpo:HP_0009601 Aplasia/Hypoplasia of the thumb hpo:HP_0009606 duplicated distal phalanx of the thumb hpo:HP_0009611 bifid distal phalanx of the thumb hpo:HP_0009623 Proximally placed thumb hpo:HP_0009651 Broad phalanges of the thumb hpo:HP_0009698 Contractures of the proximal interphalangeal joints of the fingers hpo:HP_0009701 Synostosis involving the metacarpal bones hpo:HP_0009702 Synostosis involving the carpal bones hpo:HP_0009732 Plexiform neurofibroma hpo:HP_0009733 Glioma hpo:HP_0009734 Optic glioma hpo:HP_0009737 Lisch nodules hpo:HP_0009741 Nephrosclerosis hpo:HP_0009747 Lumbosacral hirsutism hpo:HP_0009748 hpo:HP_0009749 Short, curved femora hpo:HP_0009750 Short, flared ribs hpo:HP_0009755 Ankyloblepharon hpo:HP_0009767 Aplasia/Hypoplasia of the phalanges of the hand hpo:HP_0009768 Broad phalanges of the hand hpo:HP_0009769 Bullet-shaped phalanges of the hand hpo:HP_0009771 Osteolytic defects of the phalanges of the hand hpo:HP_0009772 Patchy sclerosis of the phalanges of the hand hpo:HP_0009774 Triangular shaped phalanges of the hand hpo:HP_0009777 Aplasia of the thumb hpo:HP_0009778 Hypoplastic/small thumb hpo:HP_0009779 3-4 toe syndactyly hpo:HP_0009780 Iliac horns hpo:HP_0009783 Biceps aplasia hpo:HP_0009785 Triceps aplasia hpo:HP_0009788 Quadriceps aplasia hpo:HP_0009790 Hemisacrum (S2-S5) hpo:HP_0009791 Bifid sacrum hpo:HP_0009792 Teratoma hpo:HP_0009793 Presacral teratoma hpo:HP_0009800 Maternal diabetes hpo:HP_0009803 Hypoplastic/small phalanges of the hand hpo:HP_0009815 Aplasia/Hypoplasia of the extremities hpo:HP_0009816 Hypoplasia involving bones of the lower limbs hpo:HP_0009821 Hypoplasia involving forearm bones hpo:HP_0009826 Hypoplasia involving bones of the extremities hpo:HP_0009827 Amelia hpo:HP_0009829 Phocomelia hpo:HP_0009830 Peripheral neuropathy hpo:HP_0009835 Aplasia/Hypoplasia of the distal phalanges of the hand hpo:HP_0009836 Broad distal phalanges of the hand hpo:HP_0009839 Osteolytic defects of the distal phalanges of the hand hpo:HP_0009843 Aplasia/Hypoplasia of the middle phalanges of the hand hpo:HP_0009875 Triangular shaped distal phalanges of the hand hpo:HP_0009882 Hypoplasia of the distal phalanges of the hand hpo:HP_0009883 Partial/complete duplication of the distal phalanges of the hand hpo:HP_0009892 Anotia hpo:HP_0009901 Crumpled ear helices hpo:HP_0009921 Duane anomaly hpo:HP_0009933 Naris, narrow hpo:HP_0009937 Facial hirsutism hpo:HP_0009943 Complete duplication of the phalanges of the thumb hpo:HP_0009944 Partial duplication of the phalanges of the thumb hpo:HP_0010034 Hypoplastic/short 1st metacarpal hpo:HP_0010044 Hypoplastic/short 4th metacarpal hpo:HP_0010047 Hypoplastic/short 5th metacarpal hpo:HP_0010048 Aplasia of metacarpal bones hpo:HP_0010049 Hypoplastic/short metacarpal bones hpo:HP_0010055 Broad hallux hpo:HP_0010064 Symphalangism affecting the phalanges of the hallux hpo:HP_0010066 Partial/complete duplication of the phalanges of the hallux hpo:HP_0010068 Broad 1st metatarsal hpo:HP_0010104 Aplasia of the 1st metatarsal hpo:HP_0010105 hpo:HP_0010107 Hypoplastic/small proximal phalanx of the hallux hpo:HP_0010109 Hypoplastic/small hallux hpo:HP_0010218 Congenital vertical talus hpo:HP_0010230 Cone-shaped epiphyses of the phalanges of the hand hpo:HP_0010239 Aplasia of the middle phalanges of the hand hpo:HP_0010240 Hypoplasia of the middle phalanges of the hand hpo:HP_0010242 Aplasia of the proximal phalanges of the hand hpo:HP_0010292 Absent uvula hpo:HP_0010297 Bifid tongue hpo:HP_0010298 Smooth tongue hpo:HP_0010301 Spinal dysraphism hpo:HP_0010307 Stridor hpo:HP_0010331 Aplasia/Hypoplasia of the 3rd toe hpo:HP_0010442 Polydactyly hpo:HP_0010444 Pulmonary insufficiency hpo:HP_0010446 Tricuspid stenosis hpo:HP_0010447 Anal fistula hpo:HP_0010454 Acetabular spurs hpo:HP_0010499 Patellar subluxation hpo:HP_0010503 Fibular duplication hpo:HP_0010524 Agnosia hpo:HP_0010535 Sleep apnea hpo:HP_0010537 Wide cranial sutures hpo:HP_0010539 Thin calvarium hpo:HP_0010541 Cutis gyrata of scalp hpo:HP_0010550 Paraplegia hpo:HP_0010552 Quadriplegia hpo:HP_0010554 Cutaneous syndactyly of the fingers hpo:HP_0010557 Overlapping fingers hpo:HP_0010559 Vertical clivus hpo:HP_0010560 Undulate clavicles hpo:HP_0010561 Undulate ribs hpo:HP_0010566 Hamartoma hpo:HP_0010579 Cone-shaped epiphyses hpo:HP_0010580 Enlarged epiphyses hpo:HP_0010582 Irregular epiphyses hpo:HP_0010583 Ivory epiphyses hpo:HP_0010584 Pseudoepiphyses hpo:HP_0010585 Small epiphyses hpo:HP_0010621 Cutaneous syndactyly of the toes hpo:HP_0010624 Aplastic/hypoplastic toenails hpo:HP_0010628 Facial nerve palsy hpo:HP_0010655 Stippling of the epiphyses hpo:HP_0010713 1-5 toe syndactyly hpo:HP_0010714 2-4 toe syndactyly hpo:HP_0010719 Abnormality of hair texture hpo:HP_0010723 Cystic lesions of the pinnae hpo:HP_0010743 Hypoplasia of the metatarsal bones hpo:HP_0010769 Pilonidal sinus hpo:HP_0010783 Erythema hpo:HP_0010808 Protruding tongue hpo:HP_0010864 Intellectual disability, severe hpo:HP_0010885 Aseptic necrosis hpo:HP_0010886 Osteochondrosis dissecans hpo:HP_0011001 hpo:HP_0011003 hpo:HP_0011065 hpo:HP_0011069 hpo:HP_0011096 hpo:HP_0011265 hpo:HP_0100015 Stahl ear hpo:HP_0100250 Meningeal calcification hpo:HP_0100252 Diaphyseal dysplasia hpo:HP_0100255 Metaphyseal dysplasia hpo:HP_0100257 Ectrodactyly hpo:HP_0100258 Preaxial polydactyly hpo:HP_0100259 Postaxial polydactyly hpo:HP_0100264 Proximal symphalangism hpo:HP_0100266 Synostosis of carpals/tarsals hpo:HP_0100295 Muscle fiber atrophy hpo:HP_0100490 Camptodactyly (hands) hpo:HP_0100539 Periorbital edema hpo:HP_0100540 Palpebral edema hpo:HP_0100543 Cognitive impairment hpo:HP_0100549 Bone marrow failure hpo:HP_0100570 Carcinoid hpo:HP_0100583 Corneal perforation hpo:HP_0100678 Premature skin wrinkling hpo:HP_0200000 Dysharmonic bone age hpo:HP_0200002 Splayed metaphyses hpo:HP_0200003 Splayed epiphyses hpo:HP_0200027 contractures of the toes hpo:HP_0200031 macules hpo:HP_0200044 Porokeratosis hpo:HP_0200051 hpo:HP_0200053 pato:PATO_0000001 quality trait pato:PATO_0000068 pato:PATO_0000406 pato:PATO_0000574 pato:PATO_0000947 pato:PATO_0001241 pato:PATO_0001354 pato:PATO_0001481 uo:UO_0000000 Unit AC_0000001 Proximal femur The proximal area of the femur Acampomelic_campomelic_dysplasia Acampomelic campomelic dysplasia ACD Acheiropodia C536014 200500 Acheiropodia Achondrogenesis_type_1A C536015 200600 Achondrogenesis type 1A ACG1A Achondroplasia D000130 100800 Achondroplasia Acro-pectoral_syndrome C535664 605967 Acro-pectoral syndrome Acro-pectoro-vertebral_dysplasia 102510 Acro-pectoro-vertebral dysplasia F-syndrome Acrocallosal_syndrome D055673 200990 Acrocallosal syndrome Acrocapitofemoral_dysplasia 607778 Acrocapitofemoral dysplasia Acrodysostosis C538179 101800 Acrodysostosis Acrofacial_dysostosis_Nager_type C538184 154400 Acrofacial dysostosis Nager type Acrofacial_dysostosis_Rodriguez_type C538183 201170 Acrofacial dysostosis Rodriguez type Acrolaryngeal_dysplasia Acrolaryngeal dysplasia Fantasy Island dysplasia Tattoo dysplasia Acromesomelic_dysplasia_Hunter-Thompson_type Acromesomelic dysplasia Hunter-Thompson type Acromesomelic_dysplasia_Osebold-Remondini_type C537092 112910 Acromesomelic dysplasia Osebold-Remondini type Acromesomelic_dysplasia_type_Maroteaux C535661 602875 Acromesomelic dysplasia type Maroteaux AMDM Acromesomelic_dysplasia_with_genital_anomalies 609441 Acromesomelic dysplasia with genital anomalies Acromicric_dysplasia C535662 102370 Acromicric dysplasia Adams-Oliver_Syndrome C538225 100300 Adams-Oliver Syndrome Adducted_Thumb-Clubfoot_syndrome Adducted Thumb-Clubfoot syndrome Aggrecan_Group Aggrecan Group Al-Awadi_Raas-Rothschild_limb-pelvis_hypoplasia-aplasia C535612 276820 Al-Awadi Raas-Rothschild limb-pelvis hypoplasia-aplasia Anatomical_composite Anatomical composite Continuant entity that describes a partonomical relationship between one or more anatomical entities or their anatomical coordinates. Example: Metaphysis of femur. Anauxetic_dysplasia Anauxetic dysplasia Ankyloblepharon-Ectodermal_dysplasia-cleft_lip_palate C535847 106260 Ankyloblepharon-Ectodermal dysplasia-cleft lip/palate AEC Antley-Bixler_syndrome C537780 201750 Antley-Bixler syndrome Antley-Bixler_variants_caused_by_FGFR2_mutations Antley-Bixler variants caused by FGFR2 mutations Apert_syndrome D000168 101200 Apert syndrome Aspartylglucosaminuria D054880 208400 Aspartylglucosaminuria Asphyxiating_thoracic_dysplasia C537571 208500 Asphyxiating thoracic dysplasia ATD Jeune dysplasia Atelosteogenesis_type_1 C535396 108720 Atelosteogenesis type 1 AO1 Atelosteogenesis_type_2 C535395 256050 Atelosteogenesis type 2 AO2 Baller-Gerold_syndrome C536788 218600 Baller-Gerold syndrome Bent_bones_dysplasias Bent bones dysplasias Bone_Dysplasia Bone Dysplasia Skeletal Dysplasia A genetic disorder that involves abnormal development of bones and connective tissues. Boomerang_dysplasia Boomerang dysplasia Brachydactyly-Mental_retardation_syndrome C536802 600430 Brachydactyly-Mental retardation syndrome Brachydactyly-hypertension_syndrome C537095 112410 Brachydactyly-hypertension syndrome Bilginturian syndrome Brachydactyly_Temtamy_type C537097 605282 Brachydactyly Temtamy type Brachydactyly_type_A1 C537088 112500 Brachydactyly type A1 Brachydactyly_type_A2 C537089 112600 Brachydactyly type A2 Brachydactyly_type_A3 C537090 112700 Brachydactyly type A3 Brachydactyly_type_B2 611377 Brachydactyly type B2 Brachydactyly_type_D 113200 Brachydactyly type D Brachydactyly_type_E C537094 113300 Brachydactyly type E Brachydactyly_with_anonychia 106995 Brachydactyly with anonychia Cooks syndrome Brachydactyly_with_elbow_dysplasia 186550 Brachydactyly with elbow dysplasia Liebenberg syndrome Brachyolmia_Hobaek_type C537099 271530 Brachyolmia Hobaek type Brachyolmia_Toledo_type C537099 271630 Brachyolmia Toledo type Bruck_syndrome_type_1 C537406 259450 Bruck syndrome type 1 BS1 Bruck_syndrome_type_2 C537407 609220 Bruck syndrome type 2 Osteogenesis Imperfecta with pterygia Burton_dysplasia Burton dysplasia Buschke-Ollendorff_syndrome 166700 Buschke-Ollendorff syndrome Caffey_disease_severe_variants_with_prenatal_onset 114000 Caffey disease severe variants with prenatal onset Calvarial_doughnut_lesions_with_bone_fragility 126550 Calvarial doughnut lesions with bone fragility Campomelic_dysplasia D055036 114290 Campomelic dysplasia CD Camptodactyly_tall_stature_and_hearing_loss_syndrome C537975 Camptodactyly tall stature and hearing loss syndrome CATSHL Carpenter_syndrome C535963 201000 Carpenter syndrome Carpotarsal_osteochondromatosis 127820 Carpotarsal osteochondromatosis Cartilage-Hair-Hypoplasia C535916 250250 Cartilage-Hair-Hypoplasia CHH Metaphyseal dysplasia McKusick type Catel-Manzke_syndrome C535347 302380 Catel-Manzke syndrome Cenani-Lenz_like_syndactyly Cenani-Lenz like syndactyly Cenani-Lenz_syndactyly C538150 212780 Cenani-Lenz syndactyly Cerebro-costo-mandibular-like_syndrome_with_vertebral_defects 611209 Cerebro-costo-mandibular-like syndrome with vertebral defects Cherubism D002636 118400 Cherubism Cherubism_with_gingival_fibromatosis C535285 266270 Cherubism with gingival fibromatosis Ramon syndrome Chondroectodermal_dysplasia D004613 225500 Chondroectodermal dysplasia Ellis-van Creveld dysplasia Christian_type_brachydactyly 112450 Christian type brachydactyly Chronic_infantile_neurologic_cutaneous_articular_syndrome D056587 607115 Chronic infantile neurologic cutaneous articular syndrome CINCA Chronic_recurrent_multifocal_osteomyelitis_with_congenital_dyserythropoietic_anemia C537839 609628 Chronic recurrent multifocal osteomyelitis with congenital dyserythropoietic anemia CRMO with CDA Majeed syndrome Cleidocranial_dysplasia_and_isolated_cranial_ossification_defects_group Cleidocranial dysplasia and isolated cranial ossification defects group Coffin-Siris_syndrome C536436 135900 Coffin-Siris syndrome Congenital_contractural_arachnofactyly 121050 Congenital contractural arachnofactyly Costo-vertebral_segmentation_defect_with_mesomelia Costo-vertebral segmentation defect with mesomelia COVESDEM Cousin_syndrome 260660 Cousin syndrome Cranio-osteoarthropathy Cranio-osteoarthropathy Craniodiaphyseal_dysplasia C536627 122860 Craniodiaphyseal dysplasia Cranioectodermal_dysplasia_type_1 218330 Cranioectodermal dysplasia type 1 Levin-Sensenbrenner dysplasia type 1 Cranioectodermal_dysplasia_type_2 613610 Cranioectodermal dysplasia type 2 Levin-Sensenbrenner dysplasia type 2 Craniofacial_conodysplasia Craniofacial conodysplasia Craniometadiaphyseal_dysplasia_Wormian_bone_type Craniometadiaphyseal dysplasia Wormian bone type Craniometaphyseal_dysplasia_autosomal_recessive_type C536570 218400 Craniometaphyseal dysplasia autosomal recessive type Craniosynostosis_Boston_type 604757 Craniosynostosis Boston type Craniosynostosis_Muenke_type C537369 602849 Craniosynostosis Muenke type Craniosynostosis_with_cutis_gyrata 123790 Craniosynostosis with cutis gyrata Beare-Stevenson syndrome Crouzon-like_craniosynostosis_with_acanthosis_nigricans 612247 Crouzon-like craniosynostosis with acanthosis nigricans Crouzonodermoskeletal syndrome Crouzon_syndrome D003394 123500 Crouzon syndrome Currarino_triad C536221 176450 Currarino triad Cutis_laxa_autosomal_recessive_form_type_2A C536225 219200 278250 Cutis laxa autosomal recessive form type 2A ARCL2A Wrinkly skin syndrome Cutis_laxa_autosomal_recessive_form_type_2B C536225 612940 Cutis laxa autosomal recessive form type 2B ARCL2B Dappled_diaphyseal_dysplasia Dappled diaphyseal dysplasia De_Lange_Syndrome D003635 122470 De Lange Syndrome Desbuquois_dysplasia_other_variants_with_or_without_accessory_ossification_center C535943 Desbuquois dysplasia other variants with or without accessory ossification center Desbuquois_dysplasia_with_accessory_ossification_center_in_digit_2 C535943 251450 Desbuquois dysplasia with accessory ossification center in digit 2 Desbuquois_dysplasia_with_short_metacarpals_and_elongated_phalanges C535943 251450 Desbuquois dysplasia with short metacarpals and elongated phalanges Desbuquois dysplasia Kim type Desmosterolosis 602398 Desmosterolosis Diaphanospondylodysostosis 608022 Diaphanospondylodysostosis Diaphyseal_dysplasia_Camurati-Engelmann D003966 131300 Diaphyseal dysplasia Camurati-Engelmann Diaphyseal_medullary_stenosis_with_bone_malignancy C536169 112250 Diaphyseal medullary stenosis with bone malignancy Diastrophic_dysplasia C536170 222600 Diastrophic dysplasia DTD Dolichospondylic_dysplasia Dolichospondylic dysplasia Dyggve-Melchior-Clausen_dysplasia C535726 223800 Dyggve-Melchior-Clausen dysplasia DMC Dyschondrosteosis C537119 127300 Dyschondrosteosis Leri-Weill dysplasia Dysosteosclerosis 224300 Dysosteosclerosis Dysplasia_epiphysealis_hemimelica C537997 127800 Dysplasia epiphysealis hemimelica Trevor syndrome Dyssegmental_dysplasia_Rolland-Desbuquois_type C537999 224400 Dyssegmental dysplasia Rolland-Desbuquois type Dyssegmental_dysplasia_Silverman_Handmaker_type C537998 224410 Dyssegmental dysplasia Silverman-Handmaker type Dysspondyloenchondromatosis Dysspondyloenchondromatosis Ear-patella-short_stature_syndrome C538012 224690 Ear-patella-short stature syndrome Meier-Gorlin syndrome Ectrodactyly-ectodermal_dysplasia-macular_dystrophy_syndrome C536190 225280 Ectrodactyly-ectodermal dysplasia-macular dystrophy syndrome EEM Ectrodactyly-ectodermal_dysplasia_cleft-palate_syndrome_Type_1 C536189 129900 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome Type 1 EEC1 Ectrodactyly-ectodermal_dysplasia_cleft-palate_syndrome_Type_3 604292 Ectrodactyly-ectodermal dysplasia cleft-palate syndrome Type 3 EEC3 Ehlers-Danlos_syndrome_CHST14_type 601776 Ehlers-Danlos syndrome CHST14 type Ehlers-Danlos_syndrome_progeroid_form C536201 130070 Ehlers-Danlos syndrome progeroid form Enchondromatosis D004687 166000 Enchondromatosis Ollier syndrome Enchondromatosis_with_hemangiomata C538536 166000 Enchondromatosis with hemangiomata Maffucci syndrome Endocrine-cerebro-osteodysplasia 612651 Endocrine-cerebro-osteodysplasia ECO Endosteal_hyperostosis_van_Buchem_type 239100 Endosteal hyperostosis van Buchem type Endosteal_sclerosis_with_cerebellar_hypoplasia C535353 213002 Endosteal sclerosis with cerebellar hypoplasia Expansile_skeletal_hyperphosphatasia 602080 Expansile skeletal hyperphosphatasia Familial_digital_arthropathy_with_brachydactyly 606835 Familial digital arthropathy with brachydactyly Familial_hip_dysplasia 142669 Familial hip dysplasia Beukes dysplasia Familial_hypocalciuric_hypercalcemia_with_transient_neonatal_hyperparathyroidism 145980 Familial hypocalciuric hypercalcemia with transient neonatal hyperparathyroidism Fanconi_anemia D005199 227650 Fanconi anemia Femoral_hypoplasia-unusual_face_syndrome C537916 134780 Femoral hypoplasia-unusual face syndrome FHUFS Femur-Fibula-Ulna_Syndrome C537918 228200 Femur-Fibula-Ulna Syndrome FFU Fibrodysplasia_ossificans_progressiva D009221 135100 Fibrodysplasia ossificans progressiva FOP Fibulin1-associated_complex_synpolydactyly 608180 Fibulin1-associated complex synpolydactyly Franck-ter_Haar_syndrome C537274 249420 Franck-ter Haar syndrome Frontometaphyseal_dysplasia C538064 305620 Frontometaphyseal dysplasia Frontonasal_dysplasia_type_2 C538065 613451 Frontonasal dysplasia type 2 Frontonasal_dysplasia_type_3 C538065 613456 Frontonasal dysplasia type 3 Fucosidosis D005645 230000 Fucosidosis Fuhrmann_Syndrome C538189 228930 Fuhrmann Syndrome G0000004 U32169 6p21.3 1302 C499319 120290 NM_080679 C1413571 P13942 COL11A2 G0000005 U14528 5q32-q33.1 1836 C089651 606718 NM_000112 C1420162 P50443 DTDST SLC26A2 G0000006 AB017915 10q22.1 9469 C118929 603799 NM_004273 C1413416 Q7LGC8 CHST3 G0000007 AF091242 10q22-q24 9060 C022322 603005 NM_004670 C1418268 O95340 PAPSS2 G0000008 M85289 1p36.1 3339 C071927 142461 NM_005529 C1415793 P98160 HSPG2 PLC G0000009 X70082 Xq28 2316 C013533 300017 NM_001456 C1414635 P21333 FLNA G0000010 AF043045 3p14.3 2317 C013533 603381 NM_001457 C1414636 O75369 FLNB G0000011 AF216184 4p16 2121 C406058 604831 NM_153717 C1414479 P57679 EVC1 G0000012 AB083067 4p16 132884 C473310 607261 NM_147127 C1426383 Q86UK5 EVC2 G0000013 L32137 19p13.1 1311 C003779 600310 NM_000095 C1456376 P49747 COMP G0000014 M95610 1p33-p32.2 1298 C120282 120260 NM_001852 C1413596 Q14055 COL9A2 G0000015 AK075240 20q13.3 1299 C120768 120270 NM_001853 C1413597 Q14050 COL9A3 G0000016 AJ001047 2p24-p23 4148 C108561 602109 NM_002381 C1417043 O15232 MATN3 G0000017 6q13 C439970 120210 NM_001851 C1413595 P20849 COL9A1 G0000018 6q21-q22.3 1300 120110 NM_000493 C1413569 Q03692 COL10A1 G0000019 M29916 9p21-p12 6023 C544035 157660 NR_003051 C1419396 RMRP G0000020 3p22-p21.1 5745 C473449 168468 NM_000316 C1419073 Q03431 PTHR1 G0000021 AF151855 7q11 51119 C470521 607444 NM_016038 C1426244 Q9Y3A5 SBDS G0000022 X75308 11q22.3 4322 C507079 600108 NM_002427 C1417202 P45452 MMP13 G0000023 AF054176 1q44 114548 C453881 606416 NM_004895 C1424250 Q96P20 CIAS1 NLRP3 G0000024 18q12-q21.1 C477370 607461 Q7RTS9 DYM G0000025 AF210833 2q34-q36 50485 C412482 606622 NM_014140 C1420250 Q9NZC9 SMARCAL1 G0000026 AF100781 6q22-q23 8838 C400081 603400 NM_003880 C1421509 O95389 WISP3 G0000027 M55172 15q26.1 176 C508319 155760 NM_001135 C1412277 P16112 AGC1 G0000028 AF110146 2p12 9451 C460640 604032 NM_004836 C1414326 Q9NZJ5 EIF2AK3 G0000029 AF157061 Xp22.2-p22.1 6399 C120759 300202 NM_014563 C1427889 O14582 SEDL TRAPPC2 G0000030 AF326736 17q12-q21 50964 C422903 605740 NM_025237 C1422190 Q9BQB4 SOST G0000031 Z74615 17q21.31-q22 1277 C416402 120150 NM_000088 C1332772 P02452 COL1A1 G0000032 7q22.1 C118885 120160 NM_000089 C1332773 P08123 COL1A2 G0000033 U20760 3q13.3-q21 846 C095550 601199 NM_000388 C1413136 P41180 CASR G0000034 AJ006470 3p22 10491 C108053 605497 XM_001131352 C1413720 O75718 CRTAP G0000035 X80915 20q11.2 8200 C525893 601146 NM_000557 C1333666 P43026 GDF5 G0000036 BC026329 6q21-q23.2 2697 C500216 121014 NM_000165 C1415068 P17302 GJA1 G0000037 7p13 2737 C065683 165240 NM_000168 C0812382 P10071 GLI3 G0000038 M21142 20q13.2 2778 C406732 139320 NM_000516 C1366550 P63092 GNAS1 G0000039 12q23.3 C511050 607840 NM_024312 C1722538 Q3T906 GNPTAB GNPTA G0000040 12q14 2799 607664 NM_002076 C1415172 P15586 GNS G0000041 M34185 8p11.2-p11.1 2260 C496348 136350 NM_000604 C0919509 P11362 FGFR1 G0000042 AK026508 10q26 2263 C496353 176943 NM_022976 C1333542 P21802 FGFR2 G0000043 BC017338 1p34 2517 612280 NM_000147 C1414857 P04066 FUCA FUCA1 G0000044 D17629 16q24.3 2588 C102295 612222 NM_000512 C1414950 P34059 GALNS G0000045 M22590 3p21.33 2720 C061901 611458 NM_000404 C1415090 P15590 GLB1 G0000046 M15182 7q21.11 2990 611499 NM_000181 C1439345 P08236 GUSB G0000047 AF107457 7q36 3110 C490003 142994 NM_005515 C1415596 P50219 MNX1 HLXB9 G0000048 7p15-p14.2 3207 C484298 142958 NM_005523 C1415654 P31270 HOXA11 G0000049 7p15-p14.2 3209 C099959 142959 NM_000522 C1415655 P31271 HOXA13 G0000050 AF005219 2q31-q32 3239 C513184 142989 NM_000523 C1415687 P35453 HOXD13 HOX4I G0000051 2q23-q24 90 C425423 102576 NM_001105 C1332012 Q04771 ACVR1 G0000052 X55330 4q32-q33 175 613228 NM_000027 C1412276 P20933 AGA G0000053 Y09443 2q31 8540 603051 NM_003659 C1412284 O00116 AGPS G0000054 BC021289 1p36.1-p34 249 C548267 171760 NM_000478 C1412364 P05186 ALPL G0000055 AF294629 11p11.2 60529 C416676 605420 NM_021926 C1412373 Q9H161 ALX4 G0000056 AF274753 5p15.2-p14.1 56172 C498770 605145 NM_054027 C1423529 Q9HCJ1 ANKH G0000057 M32373 5q11-q13 411 611542 NM_000046 C1412554 P15848 ARSB G0000058 X83573 Xp22.3 415 C110155 300180 NM_000047 C1412558 P51690 ARSE G0000059 D89675 4q23-q24 658 C498214 603248 NM_001203 C1412807 BMPR1B BMPR1B G0000060 AF111178 13q32 10082 C120300 604404 NM_005708 C1415198 Q9Y625 GPC6 G0000061 X63629 16q22.1 1001 C512197 114021 NM_001793 C1337110 P22223 CDH3 G0000062 Z67743 16p13 1186 C097540 602727 NM_001287 C1413456 P51798 CLCN7 G0000063 AF018253 18q22.1 8792 C505686 603499 NM_003839 C1420805 Q9Y6Q6 RANK TNFRSF11A G0000064 U85962 16p13.3 1387 C494363 600140 NM_004380 C1337090 Q92793 CREBBP G0000065 BC016058 1q21 1513 C534130 601105 NM_000396 C1413815 P43235 CTSK G0000066 BC033647 5p15.2-p14.1 9820 C506299 609577 NM_014780 C1427252 Q14999 CUL7 G0000068 Y15164 Xp22.3-p22.2 8481 C115130 300170 NM_003611 C1413833 O75665 CXORF5 OFD1 G0000071 AF261758 1p33-p31.1 1718 C499055 606418 NM_014762 C1414039 Q15392 DHCR24 G0000072 AF043937 8443 C020051 602744 NM_014236 C1415166 O15228 GNPAT DHAPAT G0000073 AF241373 19q13 10683 C496666 602768 NM_016941 C1414071 Q9NYJ7 DLL3 G0000074 17q21.3-q22 1747 C088334 600525 NM_005220 C1414077 O60479 DLX3 G0000075 Z37986 Xp11.23-p11.22 10682 C090445 300205 NM_006579 C1414236 Q15125 EBP G0000076 U09303 Xq12 1947 C484288 300035 NM_004429 C1414305 P98172 EFNB1 G0000077 8p21.1 C500785 609353 NM_001017420 Q56NI9 ESCO2 G0000078 S79639 8q24.11-q24.13 2131 C105200 608177 NM_000127 C0694878 Q16394 EXT1 G0000079 11p12-p11 2132 C101411 608210 NM_207122 C0694879 Q93063 EXT2 G0000080 22q13.3 2192 C060820 135820 NM_006485 C1414539 P23142 FBLN1 G0000081 X63556 15q21.1 2200 C045556 134797 NM_000138 C1414542 P35555 FBN1 G0000082 5p13-p12 2255 C496463 602115 NM_004465 C1333535 O15520 FGF10 G0000083 AF263537 12p13.3 8074 C416507 605380 NM_020638 C1414605 Q9GZV9 FGF23 G0000084 BC047318 6q21-q23.2 6448 C022708 605270 NM_000199 C1420015 P51688 HSS SGSH G0000086 M58342 Xq28 3423 C018322 300823 NM_000202 C1415882 P22304 IDS G0000087 L38517 2q33-q35 3549 C509246 600726 NM_002181 C1416377 Q14623 IHH G0000088 AF074382 Xq28 8517 C491731 300301 NM_003639 C1416380 Q9Y6K9 IKBKG NEMO G0000089 L25931 1q42.1 3930 C063301 600024 NM_002296 C1416802 Q14739 LBR G0000090 12q14 C405329 607844 NM_014319 C1438822 Q9Y2U8 LEMD3 MAN1 G0000091 BC014851 7p22 3955 C498393 602576 NM_002304 C1416828 Q8NES3 LFNG G0000092 X61615 5p13.1 3977 C507840 151443 NM_002310 C1334339 P42702 LIFR G0000093 7q36 C485955 605522 NM_022458 Q8WVP7 LMBR1 G0000094 BC014507 1q21.2 4000 C494847 150330 NM_170707 C1416877 P02545 LMNA G0000095 U77457 9q34.1 4010 C112149 602575 NM_002316 C1416890 O60663 LMX1B G0000096 AF064548 11q13.4 4041 C114550 603506 NM_002335 C1416917 O75197 LRP5 G0000097 AF044414 15q11-q13 4123 C511245 609458 NM_006715 C1416998 O00754 MANA MAN2C1 G0000098 19cen-q12 4125 609489 NM_000528 C1416997 O00462 MANB MAN2B1 G0000099 15q26.1 605195 Q0VG99 MESP2 G0000100 M58549 12p13.1-p12.3 4256 C047255 154870 NM_000900 C1334506 P08493 MGP G0000101 16q13 4313 C522361 120360 NM_004530 C1334522 P08253 MMP2 G0000102 D26145 5q34-q35 4488 C084119 123101 NM_002449 C1417388 P35548 MSX2 G0000103 2p24.1 C459801 164840 NM_005378 C0812287 P04198 MYCN G0000104 17q21 4669 609701 NM_000263 C1417593 P54802 NAGLU G0000105 AF040958 6p21.3 4758 C486385 608272 NM_000434 C1417680 Q99519 NEU1 G0000106 5p13.1 C487465 608667 NM_015384 C1538063 Q6KC79 NIPBL G0000107 U31202 17q22 9241 C076547 602991 NM_005450 C1417753 Q13253 NOG G0000108 AJ005282 9p21-p12 4882 C101677 108961 NM_003995 C1334895 Q8WTW4 NPR2 G0000109 Xq28 C478776 300275 NM_015922 Q15738 NSDHL G0000110 U94332 8q24 4982 C505688 602643 NM_033012 C1336645 O00300 OPG TNFSF11 G0000111 AK027648 1p34 64175 C485657 610339 NM_022356 C1426160 Q32P28 P3H1 LEPRE1 G0000112 AB010153 3q27 8626 C115051 603273 NM_003722 C1422009 Q9H3D4 P63 TP63 G0000113 AF180814 6q22-q24 5191 C095382 601757 NM_000288 C1418479 O00628 PEX7 G0000114 U82970 Xp22.2-p22.1 5251 C506231 300550 NM_000444 C1418526 P78562 PHEX G0000115 U84573 3q23-q24 5352 C479138 601865 NM_000935 C1418652 O00469 PLOD2 G0000116 AF258341 7q11.2 5447 124015 NM_000941 C1335232 P53365 POR G0000117 20q13.1 C468629 613111 NM_000308 P10619 PPGB CTSA G0000118 AB006532 8q24.3 9401 C506731 603780 NM_004260 C1335607 O94761 RECQL4 G0000119 M97639 9q22 4920 C078717 602337 NM_004560 C1366544 Q01974 ROR2 G0000120 AF001450 6p21 860 C493709 600211 NM_004348 C1419771 Q13950 RUNX2 G0000121 X98833 16q12.1 6299 C104146 602218 NM_002968 C1419808 Q9NSC2 SALL1 G0000122 AK001666 20q13.13-q13.2 57167 C472575 607343 NM_020436 C1423836 Q9UJQ4 SALL4 G0000123 BC022996 4p16.3 6452 C109073 602104 NM_003023 C1420022 P78314 SH3BP2 G0000124 7q36 6469 C509239 600725 NM_000193 C1335824 Q15465 SHH G0000125 U82668 Xpter-p22.32 6473 C106071 312865 NM_000451 C1420041 O15266 SHOX G0000126 AJ387747 6q14-q15 26503 C421224 604322 NM_012434 C1420113 Q9NRA2 SLC17A5 G0000127 AB055000 9q34 142680 C493562 609826 NM_080877 C1426845 Q8N130 SLC34A3 G0000128 S74506 17q24.3-q25.1 6662 C527932 211970 NM_000346 C1420331 P48436 SOX9 G0000129 3p26 C480483 607939 NM_182760 Q8NBK3 SUMF1 G0000130 U61232 1q42-q43 6905 C469270 604934 NM_003193 C1420597 Q15813 TBCE G0000132 BC025258 12q24.1 6926 C106884 601621 NM_016569 C1420613 O15119 TBX3 G0000133 AF188703 17q21-q22 9496 C491193 601719 NM_018488 C1420614 P57082 TBX4 G0000134 U89353 12q24.1 6910 C103172 601620 NM_080717 C1420615 Q99593 TBX5 G0000135 AF025374 11q13.4-q13.5 10312 C472421 604592 NM_006019 C1420649 Q13488 TCIRG1 G0000136 5q32-q33.1 6949 C105442 606847 NM_001008656 C1420654 Q13428 TCOF1 G0000137 X02812 19q13.1 7040 C508960 190180 NM_000660 C1366557 P01137 TGFbeta1 TGFB1 G0000138 AL833271 11p14.3 203859 608662 NM_213599 C1428652 Q75V66 TMEM16E G0000139 AF018253 18q22.1 8792 C505686 603499 NM_003839 C1420805 Q9Y6Q6 TNFRSF11A G0000140 AF183810 8q24.12 7227 C108387 604386 NM_014112 C1421175 Q9UHF7 TRPS1 G0000141 U80998 7p21 7291 C103173 601622 NM_000474 C1421244 Q15672 TWIST1 G0000142 AY009397 17q21 7473 C064568 165330 NM_030753 C1337001 P56703 WNT3 G0000143 D83175 3p25 7476 C092778 601570 NM_004625 C1337005 O00755 WNT7a G0000144 Y13834 1p34 10269 C120130 606480 NM_005857 C1421586 O75844 ZMPSTE24 G0000145 AF401222 15q14 113189 C438013 608429 NM_130468 C1428376 Q8NCH0 CHST14 D4ST-1 HD4ST G0000146 5q35.1 C547814 613293 NM_001017995 A1X283 SH3PXD2B TKS4 G0000147 AF263523 12q24.1 59341 C416986 605427 NM_021625 C1425291 Q9HBA0 TRPV4 G0000148 11q13.5 C099883 603297 XM_370652 Q8NCM8 DYNC2H1 G0000149 3q24-q26 C530863 611177 NM_020800 Q9P2H3 IFT80 G0000150 AB067488 4q33 4750 C071420 604588 NM_012224 C1417671 Q96PY6 NEK1 G0000151 20q11.2-q13.1 4318 D020780 120361 NM_004994 C1334523 P14780 MMP9 G0000152 X14618 19p13.3-p13.1 54 C093479 171640 NM_001611 C1412133 P13686 ACP5 G0000153 AK095975 1q12-qter 4921 191311 NM_006182 C1333207 Q16832 DDR2 G0000154 AF009801 4p16.1 579 C491536 602183 NM_001189 C1412734 P78367 NKX3-2 BAPX1 G0000155 11p11.2 91252 C521172 608735 NM_152264 C1427166 Q96H72 SLC39A13 G0000156 L40380 14q31-q32 9321 C109331 604505 NM_004239 C1421146 Q15643 TRIP11 G0000157 AB044343 1p32-p31 23169 C425807 610804 NM_015139 C1427133 Q9NTN3 SLC35D1 G0000158 3q21 C422843 606045 NM_018262 Q9HBG6 IFT122 WDR10 G0000159 AB037757 2p24.1 57539 C558596 613602 NM_020779 C1428820 Q9P2L0 WDR35 G0000160 9q34.2 612277 Q86TH1 ADAMTSL2 G0000162 AB029000 8q13.3 23213 C470791 610012 NM_015170 C1426908 Q8IWU6 SULF1 G0000163 AF205075 81796 C551029 613543 NM_030958 C1425976 Q9H2Y9 SLCO5A1 G0000164 2q35 C522000 610991 NM_015311 O75147 OBSL1 G0000165 21q22.3 C086178 605925 O95613 PCNT2 G0000166 17q25.3 124583 C551404 613165 Q8WVQ1 CANT1 G0000167 BC040074 7p22 56975 C524449 611061 NM_020223 C1427755 Q8IXL6 FAM20C G0000168 AF533891 6q21 28962 C489946 607649 NM_014028 C1427674 Q86WC4 OSTM1 G0000169 AF013171 13q14 8600 C505688 602642 NM_033012 C1367028 O14788 RANKL TNFSF11 G0000170 X85792 17q21.3 9842 C476215 611466 NM_014798 C1428775 Q9Y4G2 PLEKHM1 G0000171 J03037 8q22 760 611492 NM_000067 C1413043 P00918 CA2 G0000172 11q12 C477322 607901 Q86UX7 FERMT3 KIND3 MIG2B G0000173 Xq11.1 C517118 300647 NM_152424 C1825263 Q5JTC6 WTX FAM123B G0000174 U78170 11q13 10235 C415483 605577 NM_153819 C1419284 Q7LDG7 RASGRP2 CalDAG-GEF1 G0000175 L36085 7q34 6916 274180 NM_030984 C1420620 P24557 TBXAS1 CYP5 CYP5A1 G0000176 4q34-q35 3248 601688 NM_000860 C1415699 P15428 HPGD G0000177 15q21-q22 5479 C081786 123841 NM_000942 C1418795 P23284 PPIB G0000178 AB045981 17q21.2 60681 C110054 607063 NM_021939 C1425359 Q96AY3 FKBP10 G0000179 X61598 11q13.5 871 C494660 600943 NM_004353 C1413153 P50454 SERPINH1 G0000180 AF477981 12q13.13 121340 C478163 606633 NM_152860 C1424900 Q8TDD2 SP7 G0000181 AB028600 5q35.2-q35.3 11285 C063053 604327 NM_007255 C1412725 Q9UBV7 B4GALT7 XGALT-1 XGPT1 G0000182 AF112972 12q24.3 23545 C525845 611716 NM_012463 C1425544 Q9Y487 ATP6V0A2 G0000183 AK021814 C533680 C2605795 Q5T7V8 GORAB SCYL1BP1 G0000184 17q25.3 5831 C100304 179035 NM_153824 C1419152 P32322 PYCR1 G0000185 U34037 4q21 1758 C513309 600980 NM_004407 C1414084 Q13316 DMP1 G0000186 M57736 6q22-q23 5167 C065962 173335 NM_006208 C1414407 P22413 ENPP1 G0000187 X91906 Xp11.22 1184 C097503 300008 NM_000084 C1413454 P51795 CLCN5 G0000188 8p11.1 C514442 610453 XM_372038 C1744219 Q68CP4 HGSNAT TMEM76 G0000189 BC014592 16p 84572 C504791 607838 NM_032520 C1427860 Q9UJJ9 GNPTG G0000190 AF213457 6p21.2 54209 C498715 605086 NM_018965 C1425067 Q9NZC2 TREM2 G0000191 AF019563 19q13.1 7305 C110546 604142 NM_003332 C1336692 O43914 TYROBP G0000192 D13540 12q24.1 5781 C516724 176876 NM_002834 C1335280 Q06124 PTPN11 G0000193 17q11.2 4763 613113 NM_000267 C0085113 P21359 NF1 G0000194 AK026066 5q35 64324 C113272 606681 NM_172349 C1422496 Q96L73 NSD1 G0000195 U18761 19p13.3 4784 164005 NM_002501 C1417707 Q14938 NFIX G0000196 5q23-q31 C045556 612570 NM_001999 C1414543 P35556 FBN2 G0000197 9q22 7046 C091280 190181 NM_004612 C1336624 P36897 TGFBR1 G0000198 3p22 7048 C080500 190182 NM_001024847 C0919538 P37173 TGFBR2 G0000199 2q24-qter 4880 C033523 600296 NM_024409 C1417809 P23582 NPPC G0000200 M55646 2q14.2 3557 C507763 147679 NM_173841 C1416402 P18510 IL1RN G0000201 D87436 18p 9663 C502575 605519 NM_014646 C1422658 Q92539 LPIN2 G0000202 2q24-q31 2591 C023218 601756 NM_004482 C1414953 Q14435 GALNT3 G0000203 AY040326 4q21 118429 C447150 608041 NM_058172 C1427727 P58335 ANTXR2 G0000204 AB034244 6p11 51715 C486614 606144 NM_183227 C1422524 Q9ULC3 RAB23 G0000205 AF077044 BC018528 13q12.2 51082 613715 NM_152705 C1426930 Q9Y2S0 POLR1D RPA16 RPAC2 G0000206 6p22.3 610060 C1426766 O15160 POLR1C RPA39 RPA40 RPA5 RPAC1 G0000207 AB023153 6p12.3 22858 C097276 612325 NM_016513 C1427425 Q9UPZ9 ICK G0000208 AF008203 1p21-p13 257 C485163 606014 NM_006492 C1412372 O95076 ALX3 G0000209 U31986 12q21.3-q22 8092 C489985 601527 NM_006982 C1413127 Q15699 ALX1 G0000210 16q22 1723 126064 C1333217 Q02127 DHODH G0000211 AB049064 17p13.2 84667 C486601 608059 NM_032580 C1423880 Q9BYE0 HES7 G0000212 8q22.1 392255 C525906 601147 NM_001001557 C1415036 Q6KF10 GDF6 G0000213 17q25.1 9382 C486489 606973 NM_018714 C1416821 Q8WTW3 COG1 G0000214 C476724 608699 NM_133468 C1311128 Q8N8U9 BMPER G0000215 5q31 5307 C101485 602149 NM_002653 C1418595 P78337 PITX1 G0000216 20p12 650 C525718 112261 NM_001200 C1332424 P12643 BMP2 G0000217 12p12.1-p11.2 5744 C470121 168470 NM_198965 C1335272 P12272 PTHLH G0000218 AB006626 2q37.2 9759 C400300 605314 NM_006037 C1333893 P56524 HDAC4 G0000219 BC013568 1p36.11 C553105 610274 Q9NUD9 PIGV G0000220 U01877 22q13 2033 C494360 610274 NM_001429 C1333336 Q09472 EP300 G0000221 3q26.3-q27 7066 600044 NM_000460 C0812443 P40225 THPO G0000222 AK127536 1p13 6913 C523795 604127 NM_152380 C1420605 Q96SF7 TBX15 G0000223 10q24 C120449 608071 NM_022039 C1539501 P57775 FBXW4 G0000224 AB011540 11p12-p11.2 4038 C551781 604270 NM_002334 C1416916 O75096 LRP4 G0000225 15q13-q15 C486399 603054 NM_013372 C1438932 O60565 GREM1 G0000226 15q13-q14 C072316 136535 C1539521 Q68DA7 FMN1 G0000227 Xq28 C527705 300708 NM_152274 C2352535 Q8N1B3 FAM58A G0000228 DQ185029 17q23 54903 C509165 609883 NM_017777 C1417186 Q9NXB0 MKS1 G0000229 8q21.13-q22.1 C468846 609884 NM_153704 C1172500 Q5HYA8 TMEM67 G0000230 AF317887 12q21.3 C493903 610142 NM_025114 C1529880 O15078 CEP290 G0000231 AB023222 16q12.2 C532826 610937 C2607352 Q68CZ1 RPGRIP1L G0000232 4p15.3 C528701 612013 NM_001080522 C2353583 Q9P2K1 CC2D2A G0000233 D14838 13q11-q12 2254 C496459 600921 NM_002010 C1333540 P31371 FGF9 G0000234 M74715 4p16.3 3425 252800 NM_000203 C1442485 P35475 IDUA G0000235 6q21-22 Unknown G0000236 9p21-p22 Unknown G0000237 19p Unknown G0000238 22q12-q13 Unknown G0000239 5q31 Unknown G0000240 12p12.2-11.2 Unknown G0000241 1q42.2-q43 Unknown G0000242 6q14.1 Unknown G0000243 17p13.1 Unknown G0000244 7q11.2-12.3 Unknown G0000245 7q21.3-22.1 Unknown G0000246 Xq26 Unknown G0000247 2q31 Unknown G0000248 7p13 Unknown G0000249 7q36 Unknown G0000250 2q36 Unknown G0000251 17p13.3 Unknown G0000252 2q34-36 Unknown G0000253 2q35-36.3 Unknown G0000254 11q Unknown GM000001 1 GLY380ARG, 1138G-A A 1138 G GM000002 GM000003 GM000004 GM000005 GM000006 GM000007 GM000008 GM000009 GM000010 GM000011 GM000012 GM000013 GM000014 GM000015 GM000016 GM000017 GM000018 GM000019 GM000020 GM000021 GM000022 GM000023 GM000024 1 1751 DEL A 1751 A GM000025 GM000026 GM000027 GM000028 GM000029 GM000030 GM000031 GM000032 GM000033 GM000034 GM000035 GM000036 GM000037 GM000038 GM000039 GM000040 GM000041 GM000042 GM000043 GM000044 GM000045 GM000046 GM000047 GM000048 GM000049 GM000050 GM000051 GM000052 GM000053 GM000054 GM000055 GM000056 GM000057 GM000058 GM000059 GM000060 GM000061 GM000062 GM000063 GM000064 GM000065 GM000066 GM000067 GM000068 GM000069 GM000070 GM000071 GM000072 GM000073 GM000074 GM000075 GM000076 GM000077 GM000078 GM000079 GM000080 GM000081 GM000082 GM000083 GM000084 GM000085 GM000086 GM000087 GM000088 GM000089 GM000090 GM000091 GM000092 GM000093 GM000094 GM000095 GM000096 GM000097 GM000098 GM000099 GM000100 1 g.18158C>G C 18158 G GM000101 GM000102 GM000103 GM000104 GM000105 GM000106 GM000107 GM000108 GM000109 GM000110 GM000111 GM000112 GM000113 GM000114 GM000115 GM000116 GM000117 GM000118 GM000119 GM000120 GM000121 GM000122 GM000123 GM000124 GM000125 GM000126 GM000127 GM000128 GM000129 GM000130 GM000131 GM000132 GM000133 GM000134 GM000135 GM000136 GM000137 GM000138 GM000139 GM000140 GM000141 GM000142 GM000143 GM000144 GM000145 GM000146 GM000147 GM000148 GM000149 GM000150 GM000151 GM000152 GM000153 GM000154 GM000155 GM000156 GM000157 GM000158 GM000159 GM000160 GM000161 GM000162 GM000163 GM000164 GM000165 GM000166 GM000167 GM000168 GM000169 GM000170 GM000171 GM000172 GM000173 GM000174 GM000175 GM000176 GM000177 GM000178 GM000179 GM000180 GM000181 GM000182 GM000183 GM000184 GM000185 GM000186 GM000187 GM000188 GM000189 GM000190 GM000191 GM000192 GM000193 GM000194 GM000195 GM000196 GM000197 GM000198 GM000199 GM000200 GM000201 GM000202 GM000203 GM000204 GM000205 GM000206 GM000207 GM000208 GM000209 GM000210 GM000211 GM000212 GM000213 GM000214 GM000215 GM000216 GM000217 GM000218 GM000219 GM000220 GM000221 GM000222 GM000223 GM000224 GM000225 GM000226 GM000227 GM000228 GM000229 GM000230 GM000231 GM000232 GM000233 GM000234 GM000235 GM000236 GM000237 GM000238 GM000239 GM000240 GM000241 GM000242 GM000243 GM000244 GM000245 GM000246 GM000247 GM000248 GM000249 GM000250 GM000251 GM000252 GM000253 GM000254 GM000255 GM000256 GM000257 GM000258 GM000259 GM000260 GM000261 GM000262 GM000263 GM000264 GM000265 GM000266 GM000267 GM000268 GM000269 GM000270 GM000271 GM000272 GM000273 GM000274 GM000275 GM000276 GM000277 GM000278 GM000279 GM000280 GM000281 GM000282 GM000283 GM000284 GM000285 GM000286 GM000287 GM000288 GM000289 GM000290 GM000291 GM000292 GM000293 GM000294 GM000295 GM000296 GM000297 GM000298 GM000299 GM000300 GM000301 GM000302 GM000303 GM000304 GM000305 GM000306 GM000307 GM000308 GM000309 GM000310 GM000311 GM000312 GM000313 GM000314 GM000315 GM000316 GM000317 GM000318 GM000319 GM000320 GM000321 GM000322 GM000323 GM000324 GM000325 GM000326 GM000327 GM000328 GM000329 GM000330 GM000331 GM000332 GM000333 GM000334 GM000335 GM000336 GM000337 GM000338 GM000339 GM000340 GM000341 GM000342 GM000343 GM000344 GM000345 GM000346 GM000347 GM000348 GM000349 GM000350 GM000351 GM000352 GM000353 GM000354 GM000355 GM000356 GM000357 GM000358 GM000359 GM000360 GM000361 1 GLY380ARG, 1138G-C C 1138 G GMI_Gangliosidosis_several_forms D016537 230500 GMI Gangliosidosis several forms Galactosialidosis_several_forms C536411 256540 Galactosialidosis several forms Geleophysic_dysplasia C537677 231050 Geleophysic dysplasia Geleophysic_dysplasia_other_types Geleophysic dysplasia other types Gene Gene A functional unit of heredity which occupies a specific position on a particular chromosome and serves as the template for a product that contributes to a phenotype or a biological function. Gene_Mutation Gene Mutation A change or alteration in a gene. Genetic_inflammatory_rheumatoid-like_osteoarthropathies Genetic inflammatory rheumatoid-like osteoarthropathies Genitopatellar_syndrome 606170 Genitopatellar syndrome Genochondromatosis 137360 Genochondromatosis Geroderma_osteodysplasticum C537799 231070 Geroderma osteodysplasticum Gnathodiaphyseal_dysplasia 166260 Gnathodiaphyseal dysplasia Goldenhar_syndrome Goldenhar syndrome Grebe_dysplasia C537915 200700 Grebe dysplasia Greenberg_dysplasia C537299 215140 Greenberg dysplasia Greig_Cephalopolysyndactyly_Syndrome C537300 175700 Greig Cephalopolysyndactyly Syndrome Hajdu-Cheney_syndrome D031845 102500 Hajdu-Cheney syndrome Hallermann-Streiff_syndrome D006210 234100 Hallermann-Streiff syndrome Hand-Foot-Genital_syndrome C535627 140000 Hand-Foot-Genital syndrome Hanhart_Syndrome C535629 103300 Hanhart Syndrome Hypoglossia-hypodactylia Hematodyaphyseal_dysplasia_Ghosal 231095 Hematodyaphyseal dysplasia Ghosal Hemifacial_microsomia D005146 164210 Hemifacial microsomia Holt-Oram_syndrome C535326 142900 Holt-Oram syndrome Homozygous_dyschondrosteosis C537267 249700 Homozygous dyschondrosteosis Mesomelic dysplasia Langer type Humero-spinal_dysostosis Humero-spinal dysostosis Hydrops-ectopic_calcification-moth-eaten_appearance_dysplasia Hydrops-ectopic calcification-moth-eaten appearance dysplasia HEM Hyperostosis_hyperphosphatemia_syndrome C538381 610233 Hyperostosis hyperphosphatemia syndrome Hyperphosphatasia_with_mental_retardation_brachytelephalangy_and_distinct_face Hyperphosphatasia with mental retardation brachytelephalangy and distinct face Hypertrophic_osteoarthropathy 259100 Hypertrophic osteoarthropathy Hypochondrogenesis 200610 Hypochondrogenesis Hypochondroplasia 146000 Hypochondroplasia Hypophosphatasia_adult_form 146300 Hypophosphatasia adult form Hypophosphatasia_perinatal_lethal_and_infantile_forms D007014 241500 Hypophosphatasia perinatal lethal and infantile forms Hypophosphatemic_rickets_X-linked_dominant D053098 307800 Hypophosphatemic rickets X-linked dominant Hypophosphatemic_rickets_autosomal_dominant 193100 Hypophosphatemic rickets autosomal dominant Hypophosphatemic_rickets_autosomal_recessive_type_1 241520 Hypophosphatemic rickets autosomal recessive type 1 Hypophosphatemic_rickets_autosomal_recessive_type_2 613312 Hypophosphatemic rickets autosomal recessive type 2 Hypophosphatemic_rickets_with_hypercalciuria_X-linked_recessive 300554 Hypophosphatemic rickets with hypercalciuria X-linked recessive Hypophosphatemic_rickets_with_hypercalciuria_autosomal_recessive 241539 Hypophosphatemic rickets with hypercalciuria autosomal recessive IMAGE_syndrome 300290 IMAGE syndrome Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia and Genital Anomalies Idiopathic_juvenile_osteoporosis C537700 259750 Idiopathic juvenile osteoporosis Immuno-osseous_dysplasia C536629 242900 Immuno-osseous dysplasia Schimke dysplasia Increased_bone_density_group_with_metaphyseal_and_or_diaphyseal_involvement Increased bone density group with metaphyseal and or diaphyseal involvement Increased_bone_density_group_without_modification_of_bone_shape Increased bone density group (without modification of bone shape) Infantile_systemic_hyalinosis D057770 236490 Infantile systemic hyalinosis ISH Ischiopatellar_dysplasia C535540 147891 Ischiopatellar dysplasia Small patella syndrome Jackson-Weiss_syndrome 123150 Jackson-Weiss syndrome Juveline_hyaline_fibromatosis 228600 Juveline hyaline fibromatosis JHF Kenny-Caffey_dysplasia_type_1 C537021 244460 Kenny-Caffey dysplasia type 1 Kenny-Caffey_dysplasia_type_2 C537020 127000 Kenny-Caffey dysplasia type 2 Keutel_Syndrome C536167 245150 Keutel Syndrome Klippel-Feil_anomaly_with_laryngeal_malformation C537538 148900 Klippel-Feil anomaly with laryngeal malformation Kniest_dysplasia C537207 156550 Kniest dysplasia Kyphomelic_dysplasia_several_forms C538128 211350 Kyphomelic dysplasia several forms Late_onset_Spondyloepiphyseal_dysplasia_autosomal_recessive_type 609223 Late onset Spondyloepiphyseal dysplasia autosomal recessive type Lenz-Majewski_hyperostotic_dysplasia C537115 151050 Lenz-Majewski hyperostotic dysplasia Limb-mammary_syndrome C535903 603273 Limb-mammary syndrome ADULT syndrome Lipomembraneous_osteodystrophy_with_leukoencephalopathy C536329 221770 Lipomembraneous osteodystrophy with leukoencephalopathy Presenile dementia with bone cysts Nasu-Hakola Loeys-Dietz_syndromes_type_1A D055947 609192 Loeys-Dietz syndromes type 1A Loeys-Dietz_syndromes_type_1B D055947 608967 Loeys-Dietz syndromes type 1B Loeys-Dietz_syndromes_type_2A D055947 610168 Loeys-Dietz syndromes type 2A Loeys-Dietz_syndromes_type_2B D055947 610380 Loeys-Dietz syndromes type 2B Lysosomal_Storage_Diseases_with_Skeletal_Involvement Lysosomal Storage Diseases with Skeletal Involvement Dysostosis Multiplex Group Mandibulo-facial_dysostosis D008342 154500 Mandibulo-facial dysostosis Treacher-Collins, Franceschetti-Klein Mandibuloacral_dysplasia_type_A C535705 248370 Mandibuloacral dysplasia type A Mandibuloacral_dysplasia_type_B C535706 608612 Mandibuloacral dysplasia type B Marfan_syndrome D008382 154700 Marfan syndrome Marshall_syndrome C536025 154780 Marshall syndrome McAlister_dysplasia McAlister dysplasia McCune-Albright_syndrome McCune-Albright syndrome Meckel_syndrome_type_1 C536133 249000 Meckel syndrome type 1 Meckel_syndrome_type_2 C536131 603194 Meckel syndrome type 2 Meckel_syndrome_type_3 C536132 607361 Meckel syndrome type 3 Meckel_syndrome_type_4 611134 Meckel syndrome type 4 Meckel_syndrome_type_5 611561 Meckel syndrome type 5 Meckel_syndrome_type_6 612284 Meckel syndrome type 6 Melorheostosis D008557 Melorheostosis Melorheostosis_with_osteopoikilosis 155950 Melorheostosis with osteopoikilosis Mesomelic_dysplasia_Kantaputra_type C535547 156232 Mesomelic dysplasia Kantaputra type Mesomelic_dysplasia_Korean_type Mesomelic dysplasia Korean type Mesomelic_dysplasia_Kozlowski-Reardon_type 249710 Mesomelic dysplasia Kozlowski-Reardon type Mesomelic_dysplasia_Nievergelt_type C536120 163400 Mesomelic dysplasia Nievergelt type Mesomelic_dysplasia_Savarirayan_type 605274 Mesomelic dysplasia Savarirayan type Triangular Tibia-Fibular Aplasia Metachondromatosis 156250 Metachondromatosis Metaphyseal_Acroscyphodysplasia C537350 250215 Metaphyseal Acroscyphodysplasia Metaphyseal_anadysplasia_type_1 C537351 309645 Metaphyseal anadysplasia type 1 Metaphyseal_anadysplasia_type_2 C537351 Metaphyseal anadysplasia type 2 Metaphyseal_chondromatosis_with_D-2-hydroxyglutaric_aciduria Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphyseal_dysplasia_Braun-Tinschert_type 605946 Metaphyseal dysplasia Braun-Tinschert type Metaphyseal_dysplasia_Schmid_type C537352 156500 Metaphyseal dysplasia Schmid type MCS Metaphyseal_dysplasia_Spahr_type C537353 250400 Metaphyseal dysplasia Spahr type Metaphyseal_dysplasia_with_pancreatic_insufficiency_and_cyclic_neutropenia C537330 260400 Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia SBDS Shwachman-Bodian-Diamond syndrome Microcephalic_osteodysplastic_primordial_dwarfism_type_1_3 C537320 C537577 210710 Microcephalic osteodysplastic primordial dwarfism type 1/3 MOPD1 Microcephalic_osteodysplastic_primordial_dwarfism_type_2 C537578 210720 Microcephalic osteodysplastic primordial dwarfism type 2 MOPD2 Majewski type Microcephaly-oculo-digito-esophageal-duodenal_syndrome C537734 164280 Microcephaly-oculo-digito-esophageal-duodenal syndrome Feingold syndrome Mild_campomelic_dysplasia 602196 Mild campomelic dysplasia Mild_spondyloepiphyseal_dysplasia_with_premature_onset_arthrosis Mild Spondyloepiphyseal dysplasia with premature onset arthrosis Mild SED with premature onset arthrosis Miller_syndrome C537680 263750 Miller syndrome Postaxial acrofacial dysostosis Mirror-image_polydactyly_of_hands_and_feet C535689 135750 Mirror-image polydactyly of hands and feet Laurin-Sandrow syndrome Mixed_sclerosing_bone_dysplasia Mixed sclerosing bone dysplasia Mononen_type_brachydactyly 301940 Mononen type brachydactyly Mucolipidosis_III_alpha_beta_type D009081 252600 Mucolipidosis III alpha/beta type Pseudo-Hurler polydystrophy alpha/beta type Mucolipidosis_III_gamma_type D009081 252605 Mucolipidosis III gamma type Pseudo-Hurler polydystrophy gamma type Mucolipidosis_II_alpha_beta_type D009081 252500 Mucolipidosis II alpha/beta type I-cell disease Mucopolysaccharidosis_type_1H_1S D008059 607014 Mucopolysaccharidosis type 1H/1S Mucopolysaccharidosis_type_2 D016532 309900 Mucopolysaccharidosis type 2 Mucopolysaccharidosis_type_3A C536994 252900 Mucopolysaccharidosis type 3A Mucopolysaccharidosis_type_3B C536995 252920 Mucopolysaccharidosis type 3B Mucopolysaccharidosis_type_3C C536996 252930 Mucopolysaccharidosis type 3C Mucopolysaccharidosis_type_3D C537120 252940 Mucopolysaccharidosis type 3D Mucopolysaccharidosis_type_4A D009085 253000 Mucopolysaccharidosis type 4A Morquio Syndrome A Mucopolysaccharidosis_type_4B D009085 253010 Mucopolysaccharidosis type 4B Mucopolysaccharidosis_type_6 D009087 253200 Mucopolysaccharidosis type 6 Mucopolysaccharidosis_type_7 D016538 253220 Mucopolysaccharidosis type 7 Multicentric_carpal-tarsal_osteolysis_with_and_without_nephropathy 166300 Multicentric carpal-tarsal osteolysis with and without nephropathy Multiple_cartilaginous_exostoses_1 D005097 133700 Multiple cartilaginous exostoses 1 Multiple_cartilaginous_exostoses_2 D005097 133701 Multiple cartilaginous exostoses 2 Multiple_cartilaginous_exostoses_3 D005097 600209 Multiple cartilaginous exostoses 3 Multiple_epiphyseal_dysplasia_other_types Multiple epiphyseal dysplasia other types MED other types Multiple_epiphyseal_dysplasia_type_1 C535501 132400 Multiple epiphyseal dysplasia type 1 EDM1 MED type 1 Multiple_epiphyseal_dysplasia_type_2 C535502 600204 Multiple epiphyseal dysplasia type 2 EDM2 MED type 2 Multiple_epiphyseal_dysplasia_type_3 C535503 600969 Multiple epiphyseal dysplasia type 3 EDM3 MED type 3 Multiple_epiphyseal_dysplasia_type_5 C535505 607078 Multiple epiphyseal dysplasia type 5 EDM5 MED type 5 Multiple_epiphyseal_dysplasia_type_6 Multiple epiphyseal dysplasia type 6 EDM6 MED type 6 Multiple_epiphyseal_dysplasia_with_microcephaly_and_nystagmus C537038 226960 Multiple epiphyseal dysplasia with microcephaly and nystagmus Lowry-Wood syndrome Multiple_sulfatase_deficiency D052517 272200 Multiple sulfatase deficiency Multiple_synostoses_syndrome_type_1 C537379 186500 Multiple synostoses syndrome type 1 Multiple_synostoses_syndrome_type_2 C537380 186500 Multiple synostoses syndrome type 2 Multiple_synostoses_syndrome_type_3 612961 Multiple synostoses syndrome type 3 Nail-patella_syndrome D009261 161200 Nail-patella syndrome Neonatal_Schwartz-Jampel_syndrome Neonatal Schwartz-Jampel syndrome SJS type 2 Neonatal_hyperparathyroidism_severe_form 239200 Neonatal hyperparathyroidism severe form Neonatal_onset_multisystem_inflammatory_disease D056587 Neonatal onset multisystem inflammatory disease NOMID Neonatal_osseous_dysplasia Neonatal osseous dysplasia Neurofibromatosis_type_1 D009456 162200 Neurofibromatosis type 1 NF1 Nodulosis-Arthropathy-Osteolysis_syndrome 605156 Nodulosis-Arthropathy-Osteolysis syndrome Oculo-Auriculo-Vertebral_spectrum Oculo-Auriculo-Vertebral spectrum Oculodentoosseous_dysplasia_mild_type 164200 Oculodentoosseous dysplasia mild type ODOD mild type Oculodentoosseous_dysplasia_severe_type C537733 257850 Oculodentoosseous dysplasia severe type ODOD severe type Odontochondrodysplasia 184260 Odontochondrodysplasia ODCD Odontohypophosphatasia Odontohypophosphatasia Okihiro_syndrome D004370 607323 Okihiro syndrome Duane – Radial Ray anomaly Oligosyndactyly_radio-ulnar_syntosis_hearing_loss_and_renal_defects_syndrome Oligosyndactyly radio-ulnar syntosis hearing loss and renal defects syndrome Omodysplasia C537746 258315 Omodysplasia Omodysplasia_dominant_type 164745 Omodysplasia dominant type Oral-facial-digital_syndrome_type_I C537134 311200 Oral-facial-digital syndrome type I OFD1 Osteocraniostenosis C537291 602361 Osteocraniostenosis Osteodysplasty_Melnick_Needles D010009 309350 Osteodysplasty Melnick-Needles Osteoectasia_with_hyperphosphatasia C537701 239000 Osteoectasia with hyperphosphatasia Juvenile Paget disease Osteogenesis_imperfecta_and_decreased_bone_density_group Osteogenesis imperfecta and decreased bone density group Osteogenesis_imperfecta_other_types Osteogenesis imperfecta other types Osteogenesis_imperfecta_with_calcification_of_the_interosseous_membranes_and_or_hypertrophic_callus C536046 610967 Osteogenesis imperfecta with calcification of the interosseous membranes and or hypertrophic callus OI type 5 Osteomesopyknosis C537792 166450 Osteomesopyknosis Osteopathia_striata_with_cranial_sclerosis C536053 300373 Osteopathia striata with cranial sclerosis OSCS Osteopenia_with_radiolucent_lesions_of_the_mandible Osteopenia with radiolucent lesions of the mandible Osteopetrosis_infantile_form_with_nervous_system_involvement 259720 Osteopetrosis infantile form with nervous system involvement OPTB5 Osteopetrosis_intermediate_form_OPTA2 Osteopetrosis intermediate form OPTA2 Osteopetrosis_intermediate_form_OPTB6 611497 Osteopetrosis intermediate form OPTB6 Osteopetrosis_intermediate_form_osteoclast-poor 259710 Osteopetrosis intermediate form osteoclast-poor OPTB2 Osteopetrosis_late-onset_form_type_1 C536056 607634 Osteopetrosis late-onset form type 1 OPTA1 Osteopetrosis_late-onset_form_type_2 C537041 166600 Osteopetrosis late-onset form type 2 OPTA2 Osteopetrosis_moderate_form_with_defective_leucocyte_adhesion 612840 Osteopetrosis moderate form with defective leucocyte adhesion LAD3 Osteopetrosis_severe_neonatal_or_infantile_forms_OPTB1 259700 Osteopetrosis severe neonatal or infantile forms OPTB1 Osteopetrosis_severe_neonatal_or_infantile_forms_OPTB4 611490 Osteopetrosis severe neonatal or infantile forms OPTB4 Osteopetrosis_with_ectodermal_dysplasia_and_immune_defect 300301 Osteopetrosis with ectodermal dysplasia and immune defect OLEDAID Osteopetrosis_with_infantile_neuroaxonal_dysplasia C536055 600329 Osteopetrosis with infantile neuroaxonal dysplasia Osteopetrosis_with_renal_tubular_acidosis C536058 259730 Osteopetrosis with renal tubular acidosis OPTB3 Osteopoikilosis D010023 155950 Osteopoikilosis Osteoporosis-pseudoglioma_syndrome C536063 259770 Osteoporosis-pseudoglioma syndrome Otopalatodigital_syndrome_type_1 C536065 311300 Otopalatodigital syndrome type 1 OPD1 Otopalatodigital_syndrome_type_2 C538089 304120 Otopalatodigital syndrome type 2 OPD2 Otospondylomegaepiphyseal_dysplasia_recessive_type C537141 215150 Otospondylomegaepiphyseal dysplasia recessive type OSMED recessive type Overgrowth_syndrome_with_2q37_translocations Overgrowth syndrome with 2q37 translocations Overgrowth_syndrome_with_skeletal_dysplasia Overgrowth syndrome with skeletal dysplasia Nishimura-Schmidt endochondral gigantism P000002 15-alphahydroxyprostaglandin dehydrogenase P000003 3-beta-hydroxysterol delta-24-reductase P000004 ATPase, H+ transporting, lysosomal, V0 subunit A2 P000005 Ac-CoA: alpha-glucosaminide N-acetyltransferase P000006 Activin A (BMP type 1) receptor P000007 Aggrecan P000008 Alkaline phosphatase, tissue non-specific P000009 Alkylglycerone-phosphate synthase AGPS P000010 Alpha-1-Iduronidase P000011 Anthrax toxin receptor 2 P000012 Aristaless-like 3 P000013 Aristaless-like 1 P000014 Aristaless-like 4 P000015 Arylsulfatase B P000016 Arylsulfatase E P000017 Aspartyl-glucosaminidase P000018 Bone morphogenetic protein-binding endothelial cell precursor-derived regulator P000019 Bone morphogenetic protein receptor 1B P000020 Bone morphogenetic protein type 2 P000021 COMP P000022 CREB-binding protein P000023 Cadherin 3 P000024 Calcium-sensing receptor P000025 Carbohydrate sulfotransferase 14 Dermatan 4-sulfotransferase P000026 Carbohydrate sulfotransferase 3 Chondroitin 6-sulfotransferase P000027 Carbonic anhydrase 2 P000028 Cathepsin K P000029 Chloride channel 5 P000030 Chloride channel 7 P000031 Chloride channel pump P000032 Collagen 10 alpha-1 chain P000033 Collagen 1 alpha-1 chain P000034 Collagen 9 alpha-1 chain P000035 Collagen 9 alpha-2 chain P000036 Collagen 9 alpha-3 chain P000037 Component of oligomeric Golgi complex 1 P000038 Cryopyrin P000039 Cullin 7 P000040 Cytochrome P450 oxidoreductase P000041 Dactylin P000042 Delta-like 3 P000043 Dentin matrix acidic phosphoprotein 1 P000044 Dihydroorotate dehydrogenase P000045 Dihydroxyacetonephosphate acyltransferase DHAPAT P000046 Discoidin domain receptor family, member 2 P000047 Distal-less homeobox 3 P000048 Duplication in HOXD gene cluster P000049 Dymeclin P000050 Dynein, cytoplasmic 2, heavy chain 1 P000051 E1A-binding protein, 300-kDa P000052 Ectonucleotide pyrophosphatase/phosphodiesterase 1 P000053 Ellis–van Creveld 1 protein P000054 Emopamil-binding protein P000055 Ephrin B1 P000057 EvC gene 2 P000058 Exostosin 2 P000059 Exostosin 1 P000060 FAM123B P000061 FK506 binding protein 10 P000062 Inhibitor of kappa light polypeptide gene enhancer Kindlin 3 P000063 Fibrillin 1 P000064 Fibrillin 2 P000065 Fibroblast growth factor 10 P000066 Fibroblast growth factor 23 P000067 Fibroblast growth factor receptor 1 P000068 Fibroblast growth factor receptor 2 P000069 Fibulin 1 P000070 Filamin A P000071 Filamin B P000072 Formin 1 P000073 Galactosamine-6-sulfate sulfatase P000074 Gap junction protein alpha-1 P000075 Gli-Kruppel family member 3 P000076 Glypican 6 P000077 Golgi-microtubule-associated protein, 210-kDa GMAP210 P000078 Gray lethal/osteopetrosis associated transmembrane protein P000079 Gremlin 1 P000080 Growth and differentiation factor 5 P000081 Growth and differentiation factor 6 P000082 Guanine nucleotide-binding protein, alpha-stimulating activity subunit 1 P000083 Guanine nucleotide binding protein of adenylate cyclase-subunit P000084 Hairy-and-enhancer of-split-7 P000085 Heparan sulfate 6-O-endosulfatase 1 P000086 Heparan sulfate sulfatase P000087 Histone deacetylase 4 P000088 Homeobox A11 P000089 Homeobox A13 P000090 Homeobox D13 P000091 Homeobox gene HB9 P000092 Homolog of establishment of cohesion-2 P000093 Homolog of mouse ANK (ankylosis) gene P000094 Iduronate-2-sulfatase P000095 Indian Hedgehog P000096 Inhibitor of kappa light polypeptide gene enhancer P000097 Interleukin 1 receptor antagonist P000098 Intestinal cell kinase P000099 Intraflagellar transport 122 P000100 Intraflagellar transport 80 P000102 LEM domain-containing 3 P000103 LIM homeobox transcription factor 1 P000104 Lamin A/C P000105 Lamin B receptor, 3-beta-hydroxysterol delta (14)-reductase P000106 Leucine proline-enriched proteoglycan 1 P000107 Leukemia inhibitory factor receptor P000108 Lipin 2 P000109 Low density lipoprotein receptor-related protein 4 P000110 Low density lipoprotein receptor-related protein 5 LDL-receptor related protein 5 P000111 Lunatic fringe P000113 Matrilin 3 P000114 Matrix Gla protein P000115 Matrix metalloproteinase 13 P000116 Matrix metalloproteinase 2 P000117 Matrix metalloproteinase 9 P000118 Mesoderm posterior 2 P000119 Muscle segment homeobox 2 MSX2 P000120 N-Ac-beta-D-glucosaminidase P000121 N-Acetylglucosamine 1-phosphotransferase, alpha/beta subunits P000122 N-Acetylglucosamine 1-phosphotransferase, gamma subunit P000123 N-Acetylglucosamine 6-sulfatase P000124 NAD(P)H steroid dehydrogenase-like protein P000125 NK3 Homeobox 2 P000126 Natriuretic peptide precursor C P000127 Natriuretic peptide receptor 2 P000128 Neuraminidase P000129 Neurofibromin P000130 Nima related kinase 1 P000131 Nipped-B-like P000132 Noggin P000133 Nuclear factor I/X P000134 Nuclear receptor-binding su-var, enhancer of zeste, and trithorax domain protein 1 P000135 Obscurin-like 1 P000136 Osteoprotegerin P000137 PAPS-Synthetase 2 P000138 PTH/PTHrP receptor 1 P000139 Paired-like homeodomain transcription factor 1 Pituitary homeobox 1 P000140 Parathyroid hormone-like hormone Parathyroid hormone related peptide, PTHRP P000141 Pericentrin 2 P000142 Tubulin-specific chaperone E P000143 Pleckstrin homology domain-containing protein, family M, member 1 P000144 Sodium-phosphate cotransporter P000145 Polymerase (RNA) I polypeptide C P000146 Wingless-type MMTV integration site family, member 7A P000147 WD repeat-containing protein 35 P000148 Sonic Hedgehog P000149 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 P000150 Thromboxane A synthase 1 P000151 SCYL1-binding protein 1 P000152 Tyro protein tyrosine kinase-binding protein P000153 Type 2 collagen P000154 Type 11 collagen alpha-2 chain P000155 Receptor activator of NF-kappa-B P000156 Phosphatidylinositol-glycan biosynthesis class V protein GPI mannosyltransferase 2 P000157 T-box gene 3 P000158 Tumor protein p63 P000159 Zinc finger transcription factor P000160 Triggering receptor expressed on myeloid cells 2 P000161 Xylosylprotein 4-betagalactosyltransferase deficiency P000162 X-linked hypophosphatemia membrane protease P000163 Wingless-type MMTV integration site family, member 3 P000164 SAL-like 1 P000165 WNT1-inducible signaling pathway protein 3 P000166 Translation initiation factor 2-alpha kinase-3 P000167 Transient receptor potential cation channel, subfamily V, member 4 P000168 Transforming growth factor beta 1 P000169 Thrombopoietin P000170 Tartrate-resistant acid phosphatase TRAP P000171 TWIST P000172 SAL-like 4 P000173 TKS4 P000174 TGFbeta receptor subunit 2 P000175 TGFbeta receptor subunit 1 P000176 T-box gene 5 P000177 SBDS protein P000178 T-box gene 4 P000179 T-box gene 15 P000180 Sialin P000181 Subunit of ATPase proton pump P000182 Solute carrier organic anion transporter family member 5A1 P000183 Solute carrier family 35 member D1 UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter P000184 Procollagen lysyl hydroxylase 2 P000185 Sclerostin P000186 SWI/SNF-related regulator of chromatin subfamily A-like protein 1 P000187 SRY-box 9 P000188 SP7 transcription factor P000189 SLC26A2 sulfate transporter P000190 SH3 domain-binding protein 2 P000191 Runt related transcription factor 2 P000192 Receptor tyrosine kinase-like orphan receptor 2 P000193 Receptor activator of NF-kappa-B ligand Tumor necrosis factor ligand superfamily, member 11 P000194 Ras guanyl nucleotidereleasing protein 2 P000195 RNA component of RNAse H P000196 RECQ protein-like 4 P000197 Pyrroline-5-carboxylate reductase 1 P000198 Putative receptor protein P000199 Protein-tyrosine phosphatase nonreceptor-type 11 P000200 Polymerase (RNA) I polypeptide D P000201 Peroxisomal PTS2 receptor P000202 Perlecan P000203 Treacher Collins-Franceschetti syndrome 1 P000204 Transmembrane protein 16E P000205 Short stature-homeobox gene P000206 Type 11 collagen alpha-1 chain P000207 Sedlin P000208 Zinc transporter ZIP13 P000209 Zinc metalloproteinase P000210 alpha-Fucosidase P000211 beta-Glucuronidase P000212 beta-Galactosidase protective protein P000213 beta-Galactosidase P000214 alpha-Mannosidase P000215 beta-Mannosidase P000216 Cartilage-associated protein P000217 chr. X open reading frame 5 P000218 Collagen 1 alpha-2 chain P000220 nMYC oncogene P000221 Peptidylprolyl isomerase B P000222 Serpin peptidase inhibitor clade H 1 P000223 ADAMTS-like protein 2 P000224 Sulfatase-modifying factor-1 PC_0000001 Bowed long bone PC_0000002 Short bowed long bone PC_0000003 Sloping metaphysis PC_0000004 Translucency of proximal femur Translucent proximal area of femur PC_0000005 Oval translucency of proximal femur Oval-shaped translucent area of the proximal femur Pachydermoperiostosis D010004 167100 Pachydermoperiostosis Hypertrophic osteoarthropathy primary autosomal dominant Pallister-Hall_syndrome D054975 146510 Pallister-Hall syndrome Perlecan_Group Perlecan Group Pfeiffer_syndrome_FGFR1-related D000168 101600 Pfeiffer syndrome FGFR1-related Pfeiffer_syndrome_FGFR2-related D000168 101600 Pfeiffer syndrome FGFR2-related Phenotypic_Composite Phenotypic Composite A continuant describing the conjunction between a quality and an anatomical part or an anatomical composite. Piepkorn_dysplasia Piepkorn dysplasia Platyspondyly_with_amelogenesis_imperfecta C536538 601216 Platyspondyly with amelogenesis imperfecta Brachyolmia with amelogenesis imperfecta Poland_anomaly D011045 173800 Poland anomaly Polydactyly_Syndactyly_Triphalangism_Group Polydactyly-Syndactyly-Triphalangism Group Preaxial_Polydactyly_type_1 C536332 174400 Preaxial Polydactyly type 1 PPD1 Preaxial_Polydactyly_type_2 C536563 174500 Preaxial Polydactyly type 2 PPD2 TPT Triphalangeal Thumb Preaxial_Polydactyly_type_3 174600 Preaxial Polydactyly type 3 PPD3 Preaxial_Polydactyly_type_4 C536333 174700 Preaxial Polydactyly type 4 PPD4 Progeria_Hutchinson-Gilford_type C536073 176670 Progeria Hutchinson-Gilford type Protein Protein A physical entity consisting of a sequence of amino acids. Proximal_symphalangism_type_1 185800 Proximal symphalangism type 1 Proximal_symphalangism_type_2 185800 Proximal symphalangism type 2 Pseudoachondroplasia C535819 177170 Pseudoachondroplasia PSACH Pseudodiastrophic_dysplasia C535826 264180 Pseudodiastrophic dysplasia Puretic_syndrome Puretic syndrome Pyknodysostosis D058631 265800 Pyknodysostosis Pyle_disease C536252 265900 Pyle disease QC_0000001 Oval translucency Oval-shaped area of translucency Quality_Composite Quality composite A continuant describing the conjunction between a quality and possible qualifiers associated with the quality RAPADILINO_syndrome C535288 266280 RAPADILINO syndrome Radio-ulnar_synostosis_with_amegakaryocytic_thrombocytopenia 605432 Radio-ulnar synostosis with amegakaryocytic thrombocytopenia Raine_dysplasia C535282 259775 Raine dysplasia Recessive_Larsen_syndrome Recessive Larsen syndrome Reinhardt-Pfeiffer_dysplasia 191400 Reinhardt-Pfeiffer dysplasia Rhizomelic_chondrodysplasia_punctata_type_1 215100 Rhizomelic chondrodysplasia punctata type 1 Rhizomelic CDP type 1 Rhizomelic_chondrodysplasia_punctata_type_2 C537607 222765 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic CDP type 2 Rhizomelic_chondrodysplasia_punctata_type_3 C537608 600121 Rhizomelic chondrodysplasia punctata type 3 Rhizomelic CDP type 3 Roberts_Syndrome C535687 268300 Roberts Syndrome Rubinstein-Taybi_syndrome D012415 180849 Rubinstein-Taybi syndrome SPONASTRIME_dysplasia C535786 271510 SPONASTRIME dysplasia STAR_syndrome 300707 STAR syndrome Saethre-Chotzen_syndrome D000168 101400 Saethre-Chotzen syndrome Saldino-Mainzer_dysplasia C535463 266920 Saldino-Mainzer dysplasia Scapulo-iliac_dysplasia 169550 Scapulo-iliac dysplasia Kosenow syndrome Schneckenbecken_dysplasia C536637 269250 Schneckenbecken dysplasia Schwartz_Jampel_syndrome D010009 255800 Schwartz-Jampel syndrome Myotonic chondrodystrophy Sclerosteosis C537525 269500 Sclerosteosis Serpentine_fibula-polycystic_kidney_syndrome C537586 600330 Serpentine fibula-polycystic kidney syndrome Severe_achondroplasia_developmental_delay_acanthosis_nigricans 187600 Severe achondroplasia-developmental delay-acanthosis nigricans SADDAN Severe_spondylometaphyseal_dysplasia Severe spondylometaphyseal dysplasia SMD Sedaghatian-like Severe SMD Short-rib_polydactyly_syndrome_type_1_3 D012779 263510 Short-rib polydactyly syndrome type 1/3 SRPS type 1/3 Saldino-Noonan/Verma-Naumoff dysplasia Short-rib_polydactyly_syndrome_type_2 D012779 263520 Short-rib polydactyly syndrome type 2 Majewski dysplasia SRPS type 2 Short-rib_polydactyly_syndrome_type_4 C537599 269860 Short-rib polydactyly syndrome type 4 Beemer dysplasia SRPS type 4 Sialic_acid_storage_disease D029461 269920 Sialic acid storage disease SIASD Sialidosis_several_forms D009081 256550 Sialidosis several forms Singleton-Merten_dysplasia C537343 182250 Singleton-Merten dysplasia Slender_bone_dysplasia_Group Slender bone dysplasia Group Small_patella-like_syndrome_with_clubfoot Small patella-like syndrome with clubfoot Smith-McCort_dysplasia Smith-McCort dysplasia Split_Hand-Foot_malformation_isolated_form_type_1 C535777 183600 Split Hand-Foot malformation isolated form type 1 SHFM1 Split_Hand-Foot_malformation_isolated_form_type_2 313350 Split Hand-Foot malformation isolated form type 2 SHFM2 Split_Hand-Foot_malformation_isolated_form_type_3 600095 Split Hand-Foot malformation isolated form type 3 SHFM3 Split_Hand-Foot_malformation_isolated_form_type_4 605289 Split Hand-Foot malformation isolated form type 4 SHFM4 Split_Hand-Foot_malformation_isolated_form_type_5 606708 Split Hand-Foot malformation isolated form type 5 SHFM5 Split_Hand-Foot_malformation_with_long_bone_deficiency_type_1 C536425 119100 Split Hand-Foot malformation with long bone deficiency type 1 SHFLD1 Split_Hand-Foot_malformation_with_long_bone_deficiency_type_2 610685 Split Hand-Foot malformation with long bone deficiency type 2 SHFLD2 Split_Hand-Foot_malformation_with_long_bone_deficiency_type_3 612576 Split Hand-Foot malformation with long bone deficiency type 3 SHFLD3 Spondylo-ocular_dysplasia 605822 Spondylo-ocular dysplasia Spondylocostal_dysostosis_type_1 C535781 277300 Spondylocostal dysostosis type 1 SCD1 Spondylocostal_dysostosis_type_2 C535781 608681 Spondylocostal dysostosis type 2 SCD2 Spondylocostal_dysostosis_type_3 C535781 609813 Spondylocostal dysostosis type 3 SCD3 Spondylocostal_dysostosis_type_4 C535781 Spondylocostal dysostosis type 3 Spondylocostal_thoracic_dysostosis_other_forms Spondylocostal/thoracic dysostosis other forms Spondylodysplastic_Ehlers-Danlos_syndrome 612350 Spondylodysplastic Ehlers-Danlos syndrome Spondyloenchondrodysplasia C535782 271550 Spondyloenchondrodysplasia SPENCD Spondyloepimetaphyseal_dysplasia C537501 184250 Spondyloepimetaphyseal dysplasia SEMD Strudwick type Spondyloepimetaphyseal_dysplasia_Aggrecan_type 612813 Spondyloepimetaphyseal dysplasia Aggrecan type SEMD Aggrecan type Spondyloepimetaphyseal_dysplasia_Maroteaux_type 184095 Spondyloepimetaphyseal dysplasia Maroteaux type Pseudo-Morquio syndrome type 2 Spondyloepimetaphyseal_dysplasia_Matrilin_type 608728 Spondyloepimetaphyseal dysplasia Matrilin type SEMD Matrilin type Spondyloepimetaphyseal_dysplasia_Missouri_type Spondyloepimetaphyseal dysplasia Missouri type SEMD Missouri type Spondyloepimetaphyseal_dysplasia_PAPSS2_type 603005 Spondyloepimetaphyseal dysplasia PAPSS2 type SEMD PAPSS2 type SEMD Pakistani type Spondyloepiphyseal_dysplasia_Kimberley_type 608361 Spondyloepiphyseal dysplasia Kimberley_type SED Kimberley type Spondyloepiphyseal_dysplasia_Omani_type Spondyloepiphyseal dysplasia Omani type Spondyloepiphyseal_dysplasia_Wolcott-Rallison_type C536739 226980 Spondyloepiphyseal dysplasia Wolcott-Rallison type SED Wolcott-Rallison type Spondyloepiphyseal_dysplasia_congenital C535788 183900 Spondyloepiphyseal dysplasia congenital SEDC Spondyloepiphyseal_dysplasia_tarda_X-linked C536671 313400 Spondyloepiphyseal dysplasia tarda X-linked SED tarda X-linked SED-XL Spondyloepiphyseal_dysplasia_with_metatarsal_shortening C535766 609162 Spondyloepiphyseal dysplasia with metatarsal shortening Czech dysplasia SED with metatarsal shortening Spondylohumerofemoral_dysplasia Spondylohumerofemoral dysplasia Giant cell dysplasia Spondylometaphyseal_dysplasia 607944 Spondylometaphyseal dysplasia Spondylometaphyseal_dysplasia_Algerian_type Spondylometaphyseal dysplasia Algerian type SMD Algerian type Spondylometaphyseal_dysplasia_Schmidt_type Spondylometaphyseal dysplasia Schmidt type SMD Schmidt type Spondylometaphyseal_dysplasia_Sedaghatian_type C535798 250220 Spondylometaphyseal dysplasia Sedaghatian type SMD Sedaghatian type Spondylometaphyseal_dysplasia_Sutcliffe_type C535793 184255 Spondylometaphyseal dysplasia Sutcliffe type Spondylometaphyseal dysplasia corner fracture type Spondylometaphyseal_dysplasia_with_cone-rod_dystrophy 608940 Spondylometaphyseal dysplasia with cone-rod dystrophy SMD with cone-rod dystrophy Spondylometaphyseal_dysplasia_with_retinal_degeneration_axial_type C535795 602271 Spondylometaphyseal dysplasia with retinal degeneration axial type SMD with retinal degeneration axial type Spondylometaphyseal_dysplasia_with_severe_genu_valgum 184253 Spondylometaphyseal dysplasia with severe genu valgum SMD with severe genu valgum Spondyloperipheral_dysplasia C535799 271700 Spondyloperipheral dysplasia Spondylothoracic_dysostosis Spondylothoracic dysostosis Sterile_multifocal_osteomyelitis_periostitis_and_pustulosis 147679 Sterile multifocal osteomyelitis periostitis and pustulosis CINCA/NOMID-like Stickler_like_syndrome Stickler-like syndrome Stickler_syndrome_reccesive_type Stickler syndrome reccesive type Stickler_syndrome_type_2 C537493 604841 Stickler syndrome type 2 Stueve-Wiedemann_dysplasia 601559 Stueve-Wiedemann dysplasia Syndactyly_Malik-Percin_type 609432 Syndactyly Malik-Percin type Syndactyly_type_1 C536313 185900 Syndactyly type 1 Syndactyly_type_3 C538154 185900 Syndactyly type 3 Syndactyly_type_4_Haas_type 186200 Syndactyly type 4 Haas type Syndactyly_type_5 C538155 186300 Syndactyly type 5 Syndactyly with metacarpaland metatarsal fusion Syndactyly_with_craniosynostosis 601222 Syndactyly with craniosynostosis Syndactyly Philadelphia type Syndactyly_with_microcephaly_and_mental_retardation C538152 272440 Syndactyly with microcephaly and mental retardation Filippi syndrome Synpolydactyly C538153 186000 Synpolydactyly TRPV4_Group TRPV4 Group Taybi-Linder_cephaloskeletal_dysplasia Taybi-Linder cephaloskeletal dysplasia Terminal_osseous_dysplasia_with_pigmentary_defects 300244 Terminal osseous dysplasia with pigmentary defects TODPD Tetra-amelia C536498 273395 301090 Tetra-amelia Thanatophoric_dysplasia_San_Diego_type Thanatophoric dysplasia San Diego type Thoracolaryngopelvic_dysplasia C536517 187760 Thoracolaryngopelvic dysplasia Barnes dysplasia Thrombocytopenia-Absent_Radius C536940 274000 Thrombocytopenia-Absent Radius TAR Thrombocytopenia_with_distal_limb_defects Thrombocytopenia with distal limb defects Tibial_hemimelia C535563 275220 Tibial hemimelia Tibial_hemimelia-polysyndactyly-triphalangeal_thumb 188770 Tibial hemimelia-polysyndactyly-triphalangeal thumb Torg-Winchester_syndrome C536051 277950 Torg-Winchester syndrome Townes-Brocks_syndrome C536974 107480 Townes-Brocks syndrome Renal-Ear-Anal-Radial syndrome Trichodentoosseous_dysplasia 190320 Trichodentoosseous dysplasia Trichorhinophalangeal_dysplasia_type_1_3 C536820 190350 Trichorhinophalangeal dysplasia types 1/3 Trichorhinophalangeal_dysplasia_type_2 150230 Trichorhinophalangeal dysplasia type 2 Langer-Giedion dysplasia Microdeletion syndrome Type_11_collagen_Group Type 11 collagen Group Type_2_collagen_Group_and_similar_disorders Type 2 collagen Group and similar disorders Ulnar-mammary_syndrome C536937 181450 Ulnar-mammary syndrome Weill-Marchesani_syndrome_dominant_type D056846 608328 Weill-Marchesani syndrome dominant type Weill-Marchesani_syndrome_recessive_type D056846 277600 Weill-Marchesani syndrome recessive type Weyer_acrofacial_acrodental_dysostosis C536695 193530 Weyer acrofacial acrodental dysostosis Worth_type_osteosclerosis 144750 Worth type osteosclerosis Yakut_short_stature_syndrome Yakut short stature syndrome Yunis-Varon_dysplasia C536719 216340 Yunis-Varon dysplasia alpha-Mannosidosis D008363 248500 alpha-Mannosidosis beta-Mannosidosis D044905 248510 beta-Mannosidosis de_la_Chapelle_dysplasia de la Chapelle dysplasia bonedysplasia:M_syndrome_3M1 C535314 273750 3-M syndrome 3M1 bonedysplasia:M_syndrome_3M2 C535314 612921 3-M syndrome 3M2 fma:Anatomical_entity Anatomical entity Organismal continuant entity which is enclosed by the bona fide boundary of an organism or is an attribute of its structural organization. Examples: cell, heart, head, peritoneal cavity, apex of lung, anatomical term, sagittal plane. fma:Anatomical_structure Anatomical structure Material anatomical entity which is generated by coordinated expression of the organism's own genes that guide its morphogenesis; has inherent 3D shape; its parts are connected and spatially related to one another in patterns determined by coordinated gene expression. Examples: heart, right ventricle, mitral valve, myocardium, endothelium, lymphocyte, fibroblast, thorax, cardiovascular system, hemoglobin, T cell receptor. fma:Attribute_entity Attribute entity fma:Bone_organ Bone organ Organ with cavitated organ parts, which primarily consists of compact (cortical) and cancellous bone, which surround bone marrow cavities; together with other bones, cartilages and joints, it constitutes the skeletal system. Examples: femur, sternum, maxilla, vertebra, talus. fma:Cardinal_free_limb_segment Cardinal free limb segment fma:Cardinal_organ_part Cardinal organ part Anatomical structure which has as its direct parts two or more types of tissue and is continuous with one or more anatomical structures likewise constituted by two or more portions of tissues distinct from those of their complement. Examples: osteon, cortical bone, neck of femur, bronchopulmonary segment, left lobe of liver, anterior right side of heart, interventricular branch of left coronary artery, right atrium, mitral valve, head of pancreas. fma:Cavitated_organ Cavitated organ Organ the unshared parts of which surround one or more macroscopic anatomical spaces. Examples: neuraxis, tooth, esophagus, heart, long bone, corpus spongiosum of penis. fma:Femur Femur fma:Free_limb_segment Free limb segment fma:Leg Leg fma:Limb_segment Limb segment fma:Long_bone Long bone fma:Material_anatomical_entity Material anatomical entity Physical anatomical entity which has mass. Examples: hemoglobin molecule, mitochondrion, hepatocyte, erythrocyte, heart, head, blood, urine. fma:Metaphysis Metaphysis fma:Middle_free_limb_segment Middle free limb segment fma:Organ Organ Anatomical structure which has as its direct parts portions of two or more types of tissue or two or more types of cardinal organ part which constitute a maximally connected anatomical structure demarcated predominantly by a bona fide anatomical surface. Examples: femur, biceps, liver, heart, skin, tracheobronchial tree, ovary. fma:Organ_region Organ region Cardinal organ part which is a fiat subdivision of an organ. Examples: lingula of left lung, tail of pancreas, artery, trochanter, nodulus of semilunar valve, right side of heart, duodenum, fundus of stomach. fma:Organ_with_cavitated_organ_parts Organ with cavitated organ parts Cavitated organ in which its unshared parts surround two or more macroscopic anatomical spaces. Examples: heart, long bone, corpus spongiosum of penis, bulb of vestibule. fma:Organ_zone Organ zone Organ region with one or more floating fiat boundaries. Examples: apical zone of lung, superior pole of kidney, gingiva, apex of prostate, ascending colon proper. fma:Physical_anatomical_entity Physical anatomical entity Anatomical entity which has three or fewer spatial dimensions. Examples: hemoglobin molecule, mitochondrion, hepatocyte, erythrocyte, heart, head, blood, urine, peritoneal cavity, diaphragmatic surface of heart, inferior margin of liver, apex of lung. fma:Primary_anatomical_coordinate Primary anatomical coordinate fma:Proximal Proximal fma:Secondary_anatomical_coordinate Secondary anatomical coordinate fma:Short_bone Short bone fma:Structural_relationship_value Structural relationship value fma:Subdivision_of_cardinal_body_part Subdivision of cardinal body part Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum. fma:Zone_of_bone_organ Zone of bone organ fma:Zone_of_long_bone Zone of long bone bfo:Entity Entity snap:Continuant Examples: a heart, a person, the color of a tomato, the mass of a cloud, a symphony orchestra, the disposition of blood to coagulate, the lawn and atmosphere in front of our building Synonyms: endurant Definition: An entity [bfo:Entity] that exists in full at any time in which it exists at all, persists through time while maintaining its identity and has no temporal parts. Continuant snap:DependentContinuant Definition: A continuant [snap:Continuant] that is either dependent on one or other independent continuant [snap:IndependentContinuant] bearers or inheres in or is borne by other entities. Dependent Continuant snap:IndependentContinuant Definition: A continuant [snap:Continuant] that is a bearer of quality [snap:Quality] and realizable entity [snap:RealizableEntity] entities, in which other entities inhere and which itself cannot inhere in anything. Synonyms: substantial entity Examples: an organism, a heart, a leg, a person, a symphony orchestra, a chair, the bottom right portion of a human torso, the lawn and atmosphere in front of our building Independent Continuant snap:MaterialEntity Definition: An independent continuant [snap:IndependentContinuant] that is spatially extended whose identity is independent of that of other entities and can be maintained through time. Note: Material entity [snap:MaterialEntity] subsumes object [snap:Object], fiat object part [snap:FiatObjectPart], and object aggregate [snap:ObjectAggregate], which assume a three level theory of granularity, which is inadequate for some domains, such as biology. Examples: collection of random bacteria, a chair, dorsal surface of the body Material Entity snap:Quality Examples: the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee Definition: A specifically dependent continuant [snap:SpecificallyDependentContinuant] that is exhibited if it inheres in an entity or entities at all (a categorical property). Quality snap:SpecificallyDependentContinuant Synonyms: property, trope, mode Definition: A continuant [snap:Continuant] that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. Examples: the mass of a cloud, the smell of mozzarella, the liquidity of blood, the color of a tomato, the disposition of fish to decay, the role of being a doctor, the function of the heart in the body: to pump blood, to receive de-oxygenated and oxygenated blood, etc. Specifically Dependent Continuant owl:Thing Andreas Zankl Jane Hunter Tudor Groza Yuan-Fang Li January 12, 2011 Tudor Groza rdf/xml en eResearch Lab, School of ITEE, The University of Queensland Bone Dysplasia Ontology Bone Dysplasia Ontology Abnormal_mineralization_group Abnormal mineralization group Achondrogenesis_type_1B C536016 600972 Achondrogenesis type 1B ACG1B Fraccaro type achondrogenesis Achondrogenesis_type_2 C536017 200610 Achondrogenesis type 2 ACG2 Langer-Saldino Acromelic_dysplasias Acromelic dysplasias Acromesomelic_dysplasias Acromesomelic dysplasias Albright_Hereditary_Osteodystrophy C537045 103580 Albright Hereditary Osteodystrophy AHO Angel-shaped_phalangoepiphyseal_dysplasia C536361 105835 Angel-shaped phalangoepiphyseal dysplasia ASPED Astley-Kendall_dysplasia C535392 Astley-Kendall dysplasia Atelosteogenesis_type_3 108721 Atelosteogenesis type 3 AO3 Blomstrand_dysplasia C537914 215045 Blomstrand dysplasia Brachydactylies_with_or_without_extraskeletal_manifestations Brachydactylies (with or without extraskeletal manifestations) Brachydactyly_type_B C537094 113000 Brachydactyly type B Brachydactyly_type_C C537093 113100 Brachydactyly type C Brachyolmia_autosomal_dominant_type C537098 113500 Brachyolmia autosomal dominant type CDAGS_syndrome C536789 603116 CDAGS syndrome Caffey_disease_including_infantile_and_attenuated_forms C537958 114000 Caffey disease including infantile and attenuated forms Calcium_pyrophosphate_deposition_disease_type_2 118600 Calcium pyrophosphate deposition disease type 2 Familial chondrocalcinosis type 2 Cerebro-costo-mandibular_syndrome 117650 Cerebro-costo-mandibular syndrome Rib gap syndrome Cheiro-spondyloenchondromatosis C535782 Cheiro-spondyloenchondromatosis Chondrodysplasia_punctata_Conradi-Huenermann_type D002806 302960 Chondrodysplasia punctata Conradi-Huenermann type CDP Conradi-Huenermann type CDPX2 Chondrodysplasia_punctata_Group Chondrodysplasia punctata Group CDP Group Chondrodysplasia_punctata_X-linked_recessive_brachytelephalangic_type C535941 302950 Chondrodysplasia punctata X-linked recessive brachytelephalangic type CDP X-linked recessive brachytelephalangic type CDPX1 Chondrodysplasia_punctata_tibial-metacarpal_type 118651 Chondrodysplasia punctata tibial-metacarpal type CDP tibial-metacarpal type Chondrodysplasia_with_congenital_joint_dislocations_CHST3_type C537874 608637 Chondrodysplasia with congenital joint dislocations CHST3 type Larsen syndrome, recessive type Cleidocranial_dysplasia D002973 119600 Cleidocranial dysplasia Cole-Carpenter_dysplasia C535963 112240 Cole-Carpenter dysplasia Cole-Carpenter dysplasia bone fragility with craniosynostosis Congenital_hemidysplasia_icthyosis_limb_defects 308050 Congenital hemidysplasia icthyosis limb defects CHILD Craniofrontonasal_syndrome C536456 304110 Craniofrontonasal syndrome Craniometaphyseal_dysplasia_autosomal_dominant_type C536569 123000 Craniometaphyseal dysplasia autosomal dominant type Craniosynostosis_syndromes Craniosynostosis syndromes Defects_in_joint_formation_and_synostoses Defects in joint formation and synostoses Disorganized_development_of_skeletal_components_group Disorganized development of skeletal components group Dysostoses_with_predominant_craniofacial_involvement Dysostoses with predominant craniofacial involvement Dysostoses_with_predominant_vertebral_and_costal_involvement Dysostoses with predominant vertebral and costal involvement Dysplasias_with_multiple_joint_dislocations Dysplasias with multiple joint dislocations Eiken_dysplasia 600002 Eiken dysplasia FGFR3_Chondrodysplasia_Group FGFR3 Chondrodysplasia Group Familial_expansile_osteolysis C536335 174810 Familial expansile osteolysis Familial_osteochondritis_dissecans D010008 165800 Familial osteochondritis dissecans Fibrochondrogenesis 228520 Fibrochondrogenesis Fibrous_dysplasia_polyostotic_form D005359 174800 Fibrous dysplasia polyostotic form Fibular_hypoplasia_and_complex_brachydactyly C537931 228900 Fibular hypoplasia and complex brachydactyly Du Pan dysplasia Filamin_Group_and_related_disorders Filamin Group Frontonasal_dysplasia_type_1 C538065 136760 Frontonasal dysplasia type 1 G0000001 M64347 4p16.3 2261 D051498 134934 NM_000142 C1333543 P22607 FGFR3 G0000002 X16468 12q13.11-q13.2 1280 C499177 120140 NM_001844 C1413580 P02458 COL2A1 G0000003 J04177 1p21 1301 120280 NM_001854 C1413570 P12107 COL11A1 Hypochondroplasia_like_dysplasia Hypochondroplasia-like dysplasia Lacrimo-Auriculo-Dento-Digital_syndrome C538132 149730 Lacrimo-Auriculo-Dento-Digital syndrome LADD Larsen_syndrome_dominant C537873 150250 Larsen syndrome dominant Limb_hypoplasia_reduction_defects_Group Limb hypoplasia – reduction defects Group Marshall-Smith_syndrome C536026 602535 Marshall-Smith syndrome Mesomelic_and_rhizo_mesomelic_dysplasias Mesomelic and rhizo-mesomelic dysplasias Mesomelic_dysplasia_with_acral_synostoses C537348 600383 Mesomelic dysplasia with acral synostoses Mesomelic dysplasia Verloes-David-Pfeiffer type Metaphyseal_dysplasia_Jansen_type C537564 156400 Metaphyseal dysplasia Jansen type Metaphyseal_dysplasias Metaphyseal dysplasias Metatropic_dysplasia C537356 156530 Metatropic dysplasia Multiple_epiphyseal_dysplasia_and_pseudoachondroplasia_Group Multiple epiphyseal dysplasia and pseudoachondroplasia Group Multiple_epiphyseal_dysplasia_autosomal_recessive_type C535504 226900 Multiple epiphyseal dysplasia autosomal recessive type EDM4 MED autosomal recessive type rMED Neonatal_osteosclerotic_dysplasias Neonatal osteosclerotic dysplasias Opsismodysplasia C537122 258480 Opsismodysplasia Oral-Facial-Digital_syndrome_type_4 258860 Oral-Facial-Digital syndrome type 4 Mohr-Majewski syndrome Osteogenesis_imperfecta_moderate_form C536045 Osteogenesis imperfecta moderate form OI type 4 Osteogenesis_imperfecta_non-deforming_form C536040 Osteogenesis imperfecta non-deforming form OI type 1 Osteogenesis_imperfecta_perinatal_lethal_form C536043 Osteogenesis imperfecta perinatal lethal form OI type 2 Osteogenesis_imperfecta_progressively_deforming_type C536044 Osteogenesis imperfecta progressively deforming type OI type 3 Osteoglophonic_dysplasia C536050 166250 Osteoglophonic dysplasia Osteolysis_Group Osteolysis Group Osteopetrosis_infantile_form_osteoclast-poor_with_immunoglobulin_deficiency 612302 Osteopetrosis infantile form osteoclast-poor with immunoglobulin deficiency OPTB7 Otospondylomegaepiphyseal_dysplasia_dominant_type C535776 C537494 215150 Otospondylomegaepiphyseal dysplasia dominant type OSMED dominant type Stickler syndrome type 3 Weissenbacher-Zweymueller syndrome Overgrowth_syndromes_with_skeletal_involvement Overgrowth syndromes with skeletal involvement P000001 C0117718 Fibroblast growth factor receptor 3 Parietal_foramina_isolated 168500 Parietal foramina isolated Patellar_dysostoses Patellar dysostoses Platyspondylic_dysplasia_Torrance_type 151200 Platyspondylic dysplasia, Torrance type Leri pleonosteosis Progressive_osseous_heteroplasia 166350 Progressive osseous heteroplasia Progressive_pseudorheumatoid_dysplasia C535387 208230 Progressive pseudorheumatoid dysplasia PPRD SED with progressive arthropathy Spondyloepiphyseal dysplasia with progressive arthropathy Proteus_syndrome D016715 176920 Proteus syndrome Robinow_syndrome_dominant_type C537183 180700 Robinow syndrome dominant type Robinow_syndrome_recessive_type C535863 268310 Robinow syndrome recessive type Severe_spondylodysplastic_dysplasias Severe spondylodysplastic dysplasias Short-rib_dysplasia_with_or_without_polydactyly_Group Short-rib dysplasia (with or without polydactyly) Group Shprintzen-Goldberg_syndrome C537279 182212 Shprintzen-Goldberg syndrome Sotos_syndrome D058495 117550 Sotos syndrome Spondylo-megaepiphyseal-metaphyseal_dysplasia 613330 Spondylo-megaepiphyseal-metaphyseal dysplasia SMMD Spondylo_carpal_tarsal_dysplasia 272460 Spondylo-carpal-tarsal dysplasia Spondylo_epi_meta_physeal_dysplasias Spondylo-epi(-meta)physeal dysplasias SE(M)D Spondyloepimetaphyseal_dysplasia_short_limb_abnormal_calcification_type 271665 Spondyloepimetaphyseal dysplasia short limb - abnormal calcification type SEMD short limb - abnormal calcification type Spondyloepimetaphyseal_dysplasia_with_joint_laxity_Beighton_type 271640 Spondyloepimetaphyseal dysplasia with joint laxity Beighton type SEMD with joint laxity Beighton type SEMD-JL Beighton type Spondyloepimetaphyseal_dysplasia_with_joint_laxity_Hall_type C535784 603546 Spondyloepimetaphyseal dysplasia with joint laxity Hall type SEMD with joint laxity Hall type SEMD with joint laxity leptodactylic type SEMD-JL Hall type SEMD-JL leptodactylic type Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type Spondylometaphyseal_dysplasia_Kozlowski_type C535797 184252 Spondylometaphyseal dysplasia Kozlowski type Spondylometaphyseal_dysplasias Spondylometaphyseal dysplasias SMD Stickler_syndrome_type_1 C537492 108300 Stickler syndrome type 1 Sulphation_Disorders_Group Sulphation Disorders Group Thanatophoric_dysplasia_type_1 C536507 187600 Thanatophoric dysplasia type 1 TD1 Thanatophoric_dysplasia_type_2 C536508 187601 Thanatophoric dysplasia type 2 TD2 Weaver_syndrome C536687 277590 Weaver syndrome count encoding mutated content offset original content has_part