Term Name: | chromosome 5q deletion syndrome |
---|---|
Synonyms: | 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. |
Ontology: | Human Disease [DOID:0090016] ( DOID:0090016 ) |