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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 10
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Accession:DOID:0111888 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. (DO)
Synonyms:exact_synonym: DBA10;   RPS26-related Diamond-Blackfan anemia
 primary_id: MESH:C567649
 alt_id: OMIM:613309


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Diamond-Blackfan anemia 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341 		JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr 7:1,057,332...1,058,882 JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hypoplastic anemia 240
        pure red-cell aplasia 155
          Diamond-Blackfan anemia 152
            Diamond-Blackfan anemia 10 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          anemia 786
            normocytic anemia 679
              aplastic anemia 288
                congenital hypoplastic anemia 240
                  pure red-cell aplasia 155
                    Diamond-Blackfan anemia 152
                      Diamond-Blackfan anemia 10 3
paths to the root