DISEASES

Disease-gene associations mined from literature

Human genes for brachydactyly type E1

Brachydactyly type E1 [DOID:0110972]

A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

Synonyms:  brachydactyly type E1,  DOID:0110972,  BDE1