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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 17
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Accession:DOID:0111880 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPS27 on chromosome 1q21.3. (DO)
Synonyms:exact_synonym: DBA17;   RPS27-related Diamond-Blackfan anemia
 primary_id: OMIM:617409
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 17 ClinVar
OMIM
PMID:25424902 NCBI chr 2:189,572,175...189,573,280
Ensembl chr 2:189,572,176...189,573,280
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        anemia 405
          pure red-cell aplasia 65
            Diamond-Blackfan anemia 62
              Diamond-Blackfan anemia 17 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          bone marrow disease 473
            Bone Marrow Failure Disorders 162
              aplastic anemia 150
                congenital hypoplastic anemia 107
                  Diamond-Blackfan anemia 62
                    Diamond-Blackfan anemia 17 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.