Term Name: brachydactyly type D
Synonyms: BDD
Definition: A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.
Ontology: Human Disease [DOID:0110971]   ( DOID:0110971 )

Relationships
is a type of: autosomal dominant disease brachydactyly