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DOID:0111819 - syndactyly type 5
Disease Ontology 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.
Synonyms: SDTY5, syndactyly with associated metacarpal and metatarsal fusion,
Xenbase Genes
:
hoxd13
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndactyly (is_a)