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 |
disease has location some (thumb and big toe) has material basis in some autosomal dominant inheritance |