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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 1
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Accession:DOID:0111895 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: DBA1;   RPS19-related Diamond-Blackfan anemia
 primary_id: MESH:C567302
 alt_id: OMIM:105650


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Diamond-Blackfan anemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 OMIM
ClinVar		 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital hypoplastic anemia 237
        Diamond-Blackfan anemia 152
          Diamond-Blackfan anemia 1 4
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          bone marrow disease 776
            Bone Marrow Failure Disorders 311
              aplastic anemia 285
                pure red-cell aplasia 155
                  Diamond-Blackfan anemia 152
                    Diamond-Blackfan anemia 1 4
paths to the root