OBO ID: DOID:0090016
Term Name: chromosome 5q deletion syndrome Search Ontology:
Synonyms:
  • 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. (3)
References:
Ontology: Human Disease   ( DOID:0090016 )
OTHER chromosome 5q deletion syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic 153550
ZEBRAFISH MODELS
Fish Conditions Citations
rps14zf624/zf624 standard conditions Youn et al., 2019
PHENOTYPE No data available

CITATIONS (2)