| Metadata | |
|---|---|
| ID | DOID:0111546 |
| Name | Currarino syndrome |
| Definition | A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. https://www.ncbi.nlm.nih.gov/pubmed/6789651, https://www.ncbi.nlm.nih.gov/pubmed/9843207 |
| Xrefs |
SNOMEDCT_US_2023_03_01:413936007 |
| Subsets |
DO_rare_slim |
| Synonyms |
Currarino triad [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |