Term Name: | brachydactyly type C |
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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 ) |