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DO Term : Currarino syndrome [DOID:0111546] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ORDO:1552,
  • GARD:1626,
  • OMIM:176450,
  • 176450,
  • MESH:C536221,
  • Currarino triad,
  • UMLS_CUI:C1531773,
  • SNOMEDCT_US_2023_03_01:413936007
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents