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DOID:0111544 - Guttmacher syndrome
Disease Ontology Definition:A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2.
Synonyms: autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias, preaxial deficiency-postaxial polydactyly-hypospadias syndrome
Xenbase Genes
:
hoxa13
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)