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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 16
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Accession:DOID:0111893 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL27 on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: DBA16;   RPL27-related Diamond-Blackfan anemia
 primary_id: OMIM:617408
For additional species annotation, visit the Alliance of Genome Resources.



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Diamond-Blackfan anemia 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl27 ribosomal protein L27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 16 ClinVar
OMIM
PMID:25424902 NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    physical disorder 3106
      congenital hypoplastic anemia 116
        Diamond-Blackfan anemia 66
          Diamond-Blackfan anemia 16 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      Hemic and Lymphatic Diseases 2338
        hematopoietic system disease 1914
          bone marrow disease 605
            Bone Marrow Failure Disorders 177
              aplastic anemia 165
                pure red-cell aplasia 69
                  Diamond-Blackfan anemia 66
                    Diamond-Blackfan anemia 16 1
paths to the root