Term Name: brachydactyly type C
Synonyms: BDC
Definition: A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.
Ontology: Human Disease [DOID:0110970]   ( DOID:0110970 )

Relationships
is a type of: autosomal dominant disease brachydactyly