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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chromosome 5q deletion syndrome
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Accession:DOID:0090016 term browser browse the term
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. (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: MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED;   refractory macrocytic anemia due to 5q deletion
 primary_id: MESH:C535323
 alt_id: OMIM:153550
 xref: GARD:10840;   ICD10CM:D46.7;   ORDO:86841
For additional species annotation, visit the Alliance of Genome Resources.



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chromosome 5q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Rps14 ribosomal protein S14 ISO OMIM NCBI chr18:54,227,854...54,232,638
Ensembl chr18:54,227,854...54,233,166
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      chromosomal deletion syndrome 1034
        chromosome 5q deletion syndrome 2
Path 2
Term Annotations click to browse term
  disease 18030
    Pathological Conditions, Signs and Symptoms 11166
      Pathologic Processes 7534
        Chromosome Aberrations 2124
          Aneuploidy 1374
            Monosomy 1102
              Chromosome Deletion 1102
                chromosomal deletion syndrome 1034
                  chromosome 5q deletion syndrome 2
paths to the root