chromosome 5q deletion syndrome

Summary

DOID:0090016 - chromosome 5q deletion syndrome

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: irf1, rps14

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007925 - myelodysplastic syndrome associated with isolated del(5q)

MONDO:0007925 - myelodysplastic syndrome associated with isolated del(5q)

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

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

Parent(s): chromosomal deletion syndrome (is_a), macrocytic anemia (is_a)