DISEASES

Disease-gene associations mined from literature

Human genes for brachydactyly type B2

Brachydactyly type B2 [DOID:0110975]

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.

Synonyms:  brachydactyly type B2,  DOID:0110975,  BDB2