RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
5q deletion syndrome; 5q- syndrome; 5q- syndrome, refractory macrocytic anemia due to 5q deletion; myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
narrow_synonym:
MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED; refractory macrocytic anemia due to 5q deletion