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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 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    physical disorder 3094
      congenital hypoplastic anemia 116
        Diamond-Blackfan anemia 66
          Diamond-Blackfan anemia 17 1
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          bone marrow disease 605
            Bone Marrow Failure Disorders 177
              aplastic anemia 165
                pure red-cell aplasia 69
                  Diamond-Blackfan anemia 66
                    Diamond-Blackfan anemia 17 1
paths to the root