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chromosome 5q deletion syndrome
Summary
- Synonym
-
- 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.
- Super Class
- chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0090016
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75330 | Hyaluronan mediated motility receptor | |
| P04233 | HLA class II histocompatibility antigen gamma chain | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P08758 | Annexin A5 |
