hand-foot-genital syndrome

Summary

DOID:0060739 - hand-foot-genital syndrome

Disease Ontology Definition:A syndrome 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: hand-foot-uterus syndrome, HFGS

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hoxa13

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007698 - hand-foot-genital syndrome

MONDO:0007698 - hand-foot-genital syndrome

MIM:

MIM:140000 - HAND-FOOT-GENITAL SYNDROME; HFG

MIM:140000 - HAND-FOOT-GENITAL SYNDROME; HFG

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)