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| Term | hand-foot-genital syndrome | ID (Ontology) | DOID:0060739 (Human Disease) |
| 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. | ||
| Also Known As | "hand-foot-uterus syndrome" ; "HFGS" | ||
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| hand-foot-genital syndrome |
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autosomal dominant disease syndrome |
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GARD:2594 ICD10CM:Q51.2 MIM:140000 ORDO:2438 |
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