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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 20
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Accession:DOID:0111891 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. (DO)
Synonyms:exact_synonym: DBA20;   RPS15A-related Diamond-Blackfan anemia
 primary_id: OMIM:618313


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Diamond-Blackfan anemia 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS15A ribosomal protein S15a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 OMIM
ClinVar		 PMID:27909223 NCBI chr 3:26,776,661...26,783,491
Ensembl chr 3:26,776,780...26,784,124 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    physical disorder 4823
      congenital hypoplastic anemia 222
        Diamond-Blackfan anemia 140
          Diamond-Blackfan anemia 20 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Hemic and Lymphatic Diseases 3610
        hematopoietic system disease 3134
          bone marrow disease 718
            Bone Marrow Failure Disorders 290
              aplastic anemia 264
                pure red-cell aplasia 141
                  Diamond-Blackfan anemia 140
                    Diamond-Blackfan anemia 20 1
paths to the root