| Metadata | |
|---|---|
| ID | DOID:0060739 |
| Name | hand-foot-genital syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/9020844, https://www.ncbi.nlm.nih.gov/pubmed/5450271 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
hand-foot-uterus syndrome [EXACT] HFGS [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |