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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 11
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Accession:DOID:0111892 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL26 on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: DBA11;   RPL26-related Diamond-Blackfan anemia
 primary_id: OMIM:614900
For additional species annotation, visit the Alliance of Genome Resources.



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Diamond-Blackfan anemia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by OMIM:614900 OMIM
ClinVar
PMID:22431104 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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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 11 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 11 1
paths to the root