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DOID:0060739 - hand-foot-genital syndrome
Disease Ontology Definition:A autosomal dominant disease characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.
Synonyms: HFGS, hand-foot-uterus syndrome,
Echinobase Genes :
MIM:140000 - hand-foot-genital syndrome; hfg |
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)