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 )

Relationships
is a type of: chromosomal deletion syndrome