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Metadata
ID DOID:0110030
Name alpha thalassemia-X-linked intellectual disability syndrome
Definition An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21.
https://www.ncbi.nlm.nih.gov/pubmed/1415255, https://www.ncbi.nlm.nih.gov/pubmed/7697714
Xrefs

ICD10CM:D56.0

OMIM:301040

ORDO:847

Synonyms

alpha-thalassemia/mental retardation syndrome nondeletion type [EXACT]

ATR, nondeletion type [EXACT]

ATR-X syndrome [EXACT]

Parent Relationships

is_a alpha thalassemia

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