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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

GARD:1626

MESH:C536221

OMIM:176450

ORDO:1552

SNOMEDCT_US_2023_03_01:413936007

UMLS_CUI:C1531773

Subsets

DO_rare_slim

Synonyms

Currarino triad [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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