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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:Diamond-Blackfan anemia 20
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Accession:DOID:0111891 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS15A on chromosome 16p12.3. (DO)
Synonyms:exact_synonym: DBA20;   RPS15A-related Diamond-Blackfan anemia
 primary_id: OMIM:618313
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps15a ribosomal protein S15a ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 20 ClinVar
OMIM
PMID:27909223 NCBI chr 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    physical disorder 3087
      congenital hypoplastic anemia 116
        Diamond-Blackfan anemia 66
          Diamond-Blackfan anemia 20 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      Hemic and Lymphatic Diseases 2326
        hematopoietic system disease 1907
          bone marrow disease 603
            Bone Marrow Failure Disorders 176
              aplastic anemia 164
                pure red-cell aplasia 69
                  Diamond-Blackfan anemia 66
                    Diamond-Blackfan anemia 20 1
paths to the root