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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



show annotations for term's descendants           Sort by:
chromosome 5q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klf1 KLF transcription 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 CTD Direct Evidence: marker/mechanism OMIM
CTD
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 21120
    syndrome 10776
      chromosomal deletion syndrome 1453
        chromosome 5q deletion syndrome 2
Path 2
Term Annotations click to browse term
  disease 21120
    Pathological Conditions, Signs and Symptoms 13299
      Pathologic Processes 7942
        Chromosome Aberrations 2495
          Aneuploidy 1792
            Monosomy 1515
              Chromosome Deletion 1515
                chromosomal deletion syndrome 1453
                  chromosome 5q deletion syndrome 2
paths to the root