Summary Literature (0)

DOID:0090016 - chromosome 5q deletion syndrome

Disease Ontology Definition:A chromosome 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.

Synonyms: 5q- syndrome, refractory macrocytic anemia due to 5q deletion, myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality,

Echinobase Genes : rps14


OMIM:

MIM:153550 - chromosome 5q deletion syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee