brachydactyly type B2
brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has material basis in mutations in the NOG gene on chromosome 17q22
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brachydactyly type B2
Summary
brachydactyly type B2 is a developmental defect during embryogenesis[1].
Key Facts
- brachydactyly type B2's instance of is recorded as developmental defect during embryogenesis[2].
- brachydactyly type B2's instance of is recorded as rare disease[3].
- brachydactyly type B2's instance of is recorded as class of disease[4].
- brachydactyly type B2's subclass of is recorded as brachydactyly[5].
- brachydactyly type B2's subclass of is recorded as syndrome with brachydactyly[6].
- brachydactyly type B2's OMIM ID is recorded as 611377[7].
- brachydactyly type B2's Disease Ontology ID is recorded as DOID:0110975[8].
- brachydactyly type B2's Orphanet ID is recorded as 140908[9].
- brachydactyly type B2's health specialty is recorded as medical genetics[10].
- brachydactyly type B2's genetic association is recorded as NOG[11].
- brachydactyly type B2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110975[12].
- brachydactyly type B2's exact match is recorded as http://identifiers.org/doid/DOID:0110975[13].
- brachydactyly type B2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_140908[14].
- brachydactyly type B2's UMLS CUI is recorded as C1969652[15].
- brachydactyly type B2's ICD-10-CM is recorded as Q73.8[16].
- brachydactyly type B2's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- brachydactyly type B2's Mondo ID is recorded as MONDO_0012658[18].
- brachydactyly type B2's UniProt disease ID is recorded as DI-02844[19].