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Alpha Thalassemia-Intellectual Disability Syndrome Type 1

Disease ID: disease_node_15241

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DbxrefICD10CM:D56.0, MIM:141750, ORDO:98791
SubclassofDOID_1099, DOID_0060388
Data SourceDOID
SynonymsATR syndrome linked to chromosome 16, ATR syndrome, deletion type, ATR-16 syndrome, alpha thalassemia-intellectual disability syndrome, deletion type, alpha thalassemia-retardation syndrome, alpha-thalassemia-intellectual disability syndrome linked to chromosome 16, alpha-thalassemia/mental retardation syndrome, deletion-type, alpha-thalassemia/mental retardation syndrome, type 1
Doid Labelalpha thalassemia-intellectual disability syndrome type 1
Doid DescriptionAn 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.
Disease Node Iddisease_node_15241
Doid IdDOID_0110029
LabelAlpha Thalassemia-Intellectual Disability Syndrome Type 1