Term Name: | syndactyly type 5 |
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Synonyms: | SDTY5, syndactyly with associated metacarpal and metatarsal fusion |
Definition: | A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. |
Ontology: | Human Disease [DOID:0111819] ( DOID:0111819 ) |