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Summary Literature (0)
DOID:0110029 - alpha thalassemia-intellectual disability syndrome type 1


Disease Ontology Definition: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: ATR 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,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007716 - alpha thalassemia-intellectual disability syndrome type 1


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): alpha thalassemia (is_a), chromosomal deletion syndrome (is_a)