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DO Term : Abruzzo-Erickson syndrome [DOID:0111826] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1.
  • synonyms:
  • MESH:C535559,
  • cleft palate-coloboma-deafness syndrome,
  • 302905,
  • OMIM:302905,
  • GARD:360,
  • CHARGE-like syndrome, X-linked,
  • UMLS_CUI:C1844862,
  • ORDO:921,
  • SNOMEDCT_US_2023_03_01:718574003
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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