Term Name: | brachydactyly type B2 |
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Synonyms: | BDB2 |
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. |
Ontology: | Human Disease [DOID:0110975] ( DOID:0110975 ) |