syndactyly type 5 Disease Ontology Browser

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Disease Ontology Browser

syndactyly type 5 (DOID:0111819)
Alliance: disease page
Synonyms: SDTY5; syndactyly with associated metacarpal and metatarsal fusion
Alt IDs: OMIM:186300, MESH:C538155, ORDO:93406, UMLS_CUI:C1861348
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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