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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 13
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Accession:DOID:0111889 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)
Synonyms:exact_synonym: DBA13;   RPS29-RELATED CONDITION;   RPS29-related Diamond-Blackfan anemia
 primary_id: MIM:615909


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Diamond-Blackfan anemia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 | ClinVar Annotator: match by term: RPS29-related condition OMIM
ClinVar		 PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr 6:93,371,293...93,372,731
Ensembl chr13:87,816,954...87,817,267
Ensembl chr 6:87,816,954...87,817,267 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital hypoplastic anemia 304
        pure red-cell aplasia 194
          Diamond-Blackfan anemia 191
            Diamond-Blackfan anemia 13 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Hemic and Lymphatic Diseases 4332
        hematopoietic system disease 3839
          anemia 865
            normocytic anemia 756
              aplastic anemia 352
                congenital hypoplastic anemia 304
                  pure red-cell aplasia 194
                    Diamond-Blackfan anemia 191
                      Diamond-Blackfan anemia 13 1
paths to the root