FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 5q deletion syndrome ID (Ontology) DOID:0090016 (Human Disease)
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.
Also Known As "5q- syndrome, refractory macrocytic anemia due to 5q deletion" ; "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"
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 Genes
 chromosome 5q deletion syndrome       2
 for disease ribbon | chromosome 5q deletion syndrome       2
 model of | chromosome 5q deletion syndrome       2
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 5q deletion syndrome  2 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT
    "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT
Secondary IDs
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GARD:10840
ICD10CM:D46.7
MESH:C535323
MIM:153550
ORDO:86841