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Metadata
ID DOID:0112125
Name alpha-thalassemia myelodysplasia syndrome
Definition A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1.
https://pubmed.ncbi.nlm.nih.gov/12858175/
Xrefs

MESH:C563023

OMIM:300448

ORDO:231401

SNOMEDCT_US_2023_03_01:307343001

UMLS_CUI:C0585216

Subsets

DO_rare_slim

Synonyms

acquired HbH disease [EXACT]

acquired hemoglobin H disease [EXACT]

alpha-thalassemia-myelodysplastic syndrome [EXACT]

ATMDS [EXACT]

Parent Relationships

is_a syndrome

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