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Alpha Thalassemia-X-Linked Intellectual Disability Syndrome

Disease ID: disease_node_17084

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DbxrefGARD:5864, ICD10CM:D56.0, MIM:301040, ORDO:847
SubclassofDOID_0080009, DOID_1099
Data SourceDOID
SynonymsATR, nondeletion type, ATR-X syndrome, alpha-thalassemia/mental retardation syndrome nondeletion type
Doid Labelalpha thalassemia-X-linked intellectual disability syndrome
Doid DescriptionAn alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
Has Material Basis InGENO_0000146
Disease Node Iddisease_node_17084
Doid IdDOID_0110030
LabelAlpha Thalassemia-X-Linked Intellectual Disability Syndrome