Search Ontology:
Human Disease
chromosome 5q deletion syndrome
- Term ID
- DOID:0090016
- Synonyms
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- 5q- syndrome, refractory macrocytic anemia due to 5q deletion
- myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
- Definition
- A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. (3)
- References
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- GARD:10840
- ICD10CM:D46.7
- MESH:C535323
- MIM:153550
- ORDO:86841
- Ontology
- Human Disease ( DOID:0090016 )
- is a type of
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