| Metadata | |
|---|---|
| ID | DOID:0111931 |
| Name | syndactyly-telecanthus-anogenital and renal malformations syndrome |
| Definition | A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. https://pubmed.ncbi.nlm.nih.gov/18297069/, https://pubmed.ncbi.nlm.nih.gov/8818947/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:723581006 |
| Subsets |
DO_rare_slim |
| Synonyms |
STAR syndrome [EXACT] syndactyly with renal and anogenital malformations [EXACT] toe syndactyly, telecanthus, and anogenital and renal malformations [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |