Term Name: | hand-foot-genital syndrome |
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Synonyms: | hand-foot-uterus syndrome, HFGS |
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. |
Ontology: | Human Disease [DOID:0060739] ( DOID:0060739 ) |