brachydactyly type A2
Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger
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brachydactyly type A2
Summary
brachydactyly type A2 is a developmental defect during embryogenesis[1].
Key Facts
- brachydactyly type A2's instance of is recorded as developmental defect during embryogenesis[2].
- brachydactyly type A2's instance of is recorded as class of disease[3].
- brachydactyly type A2's subclass of is recorded as brachydactyly[4].
- brachydactyly type A2's subclass of is recorded as syndrome with brachydactyly[5].
- brachydactyly type A2's subclass of is recorded as autosomal dominant disease[6].
- brachydactyly type A2's MeSH descriptor ID is recorded as C537089[7].
- brachydactyly type A2's OMIM ID is recorded as 112600[8].
- brachydactyly type A2's Disease Ontology ID is recorded as DOID:0110965[9].
- brachydactyly type A2's Orphanet ID is recorded as 93396[10].
- brachydactyly type A2's health specialty is recorded as medical genetics[11].
- brachydactyly type A2's genetic association is recorded as BMPR1B[12].
- brachydactyly type A2's genetic association is recorded as BMP2[13].
- brachydactyly type A2's genetic association is recorded as GDF5[14].
- brachydactyly type A2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110965[15].
- brachydactyly type A2's exact match is recorded as http://identifiers.org/doid/DOID:0110965[16].
- brachydactyly type A2's exact match is recorded as http://purl.obolibrary.org/obo/HP_0009372[17].
- brachydactyly type A2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93396[18].
- brachydactyly type A2's UMLS CUI is recorded as C1832702[19].
- brachydactyly type A2's Human Phenotype Ontology ID is recorded as HP:0009372[20].
- brachydactyly type A2's ICD-10-CM is recorded as Q73.8[21].
- brachydactyly type A2's GARD rare disease ID is recorded as 979[22].
- brachydactyly type A2's GARD rare disease ID is recorded as 989[23].
- brachydactyly type A2's on focus list of Wikimedia project is recorded as WikiProject Medicine[24].
- brachydactyly type A2's Mondo ID is recorded as MONDO_0007216[25].
- brachydactyly type A2's UniProt disease ID is recorded as DI-00195[26].