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Summary Literature (0)
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 HOXA13 on chromosome 7p15.2.

Synonyms: autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias, preaxial deficiency-postaxial polydactyly-hypospadias syndrome

In OMIM:
OMIM:176305 - PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS


Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : hoxa13

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)