Term Name: brachydactyly type E1
Synonyms: BDE1
Definition: 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.
Ontology: Human Disease [DOID:0110972]   ( DOID:0110972 )

Relationships
is a type of: brachydactyly