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DO Term : alpha thalassemia-intellectual disability syndrome type 1 [DOID:0110029] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
  • synonyms:
  • alpha thalassemia-intellectual disability syndrome, deletion type,
  • ICD10CM:D56.0,
  • alpha-thalassemia/mental retardation syndrome, type 1,
  • 141750,
  • ATR syndrome, deletion type,
  • alpha thalassemia-retardation syndrome,
  • OMIM:141750,
  • ATR syndrome linked to chromosome 16,
  • alpha-thalassemia-intellectual disability syndrome linked to chromosome 16,
  • ATR-16 syndrome,
  • ORDO:98791,
  • alpha-thalassemia/mental retardation syndrome, deletion-type
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Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents