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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 3
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Accession:DOID:0111887 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. (DO)
Synonyms:exact_synonym: DBA3;   RPS24-related Diamond-Blackfan anemia
 primary_id: MESH:C536355
 alt_id: OMIM:610629


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Diamond-Blackfan anemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,413,099...80,471,697 		JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 OMIM
ClinVar		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr14:80,473,867...80,480,818
Ensembl chr14:80,473,928...80,480,815 		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 3 2
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 3 2
paths to the root