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syndactyly type 5
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndactyly
External Links
- Disease Ontology
- DOID:0111819
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
