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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 7
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Accession:DOID:0111878 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in RPL11 on chromosome 1p36.11. (DO)
Synonyms:exact_synonym: DBA7;   RPL11-related Diamond-Blackfan anemia
 primary_id: MESH:C567254
 alt_id: OMIM:612562
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl11 ribosomal protein L11 ISO DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:mutations:multiple (human)
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM
ClinVar
PMID:16199547 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 More... RGD:11535122, RGD:11535132, RGD:11535130, RGD:11535967, RGD:11535969, RGD:11535971 NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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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 7 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 7 1
paths to the root