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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 5q deletion syndrome
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Accession:DOID:0090016 term browser browse the term
Definition:A chromosome 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: MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5q DELETION;   MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED
 primary_id: MESH:C535323;   RDO:0000375
 alt_id: OMIM:153550
 xref: GARD:10840;   ICD10CM:D46.7;   ORDO:86841
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chromosome 5q deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:10769343
G Rps14 ribosomal protein S14 JBrowse link 18 56,042,532 56,047,316 RGD:7240710

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  disease 15553
    syndrome 5224
      chromosome 5q deletion syndrome 2
Path 2
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  disease 15553
    Pathological Conditions, Signs and Symptoms 8019
      Pathologic Processes 5164
        Chromosome Aberrations 751
          Aneuploidy 654
            Monosomy 559
              Chromosome Deletion 559
                chromosome 5q deletion syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.