chromosome 5q deletion syndrome (DOID:0090016)
Alliance: disease page
Synonyms: 5q- syndrome, refractory macrocytic anemia due to 5q deletion; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Alt IDs: OMIM:153550, ICD10CM:D46.7, MESH:C535323, ORDO:86841
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.