alpha thalassemia-X-linked intellectual disability syndrome

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: atrx

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010519 - alpha thalassemia-X-linked intellectual disability syndrome

MONDO:0010519 - alpha thalassemia-X-linked intellectual disability syndrome

MIM:

MIM:301040 - ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED; ATRX

MIM:301040 - ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED; ATRX

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), X-linked dominant disease (is_a)