| Term Name: | hand-foot-genital syndrome |
|---|---|
| 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 ) |