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Disease Ontology Browser
alpha thalassemia-X-linked intellectual disability syndrome (DOID:0110030)
Alliance: disease page
Synonyms: alpha-thalassemia/mental retardation syndrome nondeletion type; ATR, nondeletion type; ATR-X syndrome
Alt IDs: OMIM:301040, ICD10CM:D56.0, MESH:C538258, NCI:C118631, ORDO:847, UMLS_CUI:C1845055
Definition: A syndrome characterized by a variable phenotype including distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay or intellectual disability, and alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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07/08/2026
MGI 6.24 		The Jackson Laboratory