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Summary Literature (0)
DOID:0110030 - alpha thalassemia-X-linked intellectual disability syndrome


Disease Ontology Definition:An alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21.

Synonyms: ATR, nondeletion type, ATR-X syndrome, alpha-thalassemia/mental retardation syndrome nondeletion type

Xenbase Genes : atrx

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010519 - alpha thalassemia-X-linked intellectual disability syndrome

OMIM:
OMIM:301040 - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

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

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