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| Term | Currarino syndrome | ID (Ontology) | DOID:0111546 (Human Disease) |
| 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. | ||
| Also Known As | "Currarino triad" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease__ disease | |__syndrome____________________| Currarino syndrome 3 rec. |
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autosomal dominant disease syndrome |
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GARD:1626 MESH:C536221 MIM:176450 ORDO:1552 SNOMEDCT_US_2023_03_01:413936007 UMLS_CUI:C1531773 |
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