| Metadata | |
|---|---|
| ID | DOID:0090016 |
| Name | chromosome 5q deletion syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/18202658, https://www.ncbi.nlm.nih.gov/pubmed/19898489, https://www.ncbi.nlm.nih.gov/pubmed/25920683 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
5q- syndrome, refractory macrocytic anemia due to 5q deletion [EXACT] myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality [EXACT] |
| Parent Relationships |