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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: HFGS, hand-foot-uterus syndrome
OMIM:140000 - HAND-FOOT-GENITAL SYNDROME; HFG |
MONDO:0007698 - hand-foot-genital syndrome |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

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