Currarino syndrome

Term ID

DOID:0111546

Synonyms

• Currarino triad

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. (2)

References

• GARD:1626
• MESH:C536221
• OMIM:176450
• ORDO:1552
• SNOMEDCT_US_2023_03_01:413936007
• UMLS_CUI:C1531773

Ontology

Human Disease   ( DOID:0111546 )