brachydactyly type B2 Disease Ontology Browser

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Disease Ontology Browser

brachydactyly type B2 (DOID:0110975)
Alliance: disease page
Synonyms: BDB2
Alt IDs: OMIM:611377, ICD10CM:Q73.8, ORDO:140908
Definition: A 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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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