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alpha-thalassemia myelodysplasia syndrome
Summary
- Synonym
-
- ATMDS
- acquired HbH disease
- acquired hemoglobin H disease
- alpha-thalassemia-myelodysplastic 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.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0112125
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P46100 | Transcriptional regulator ATRX |
