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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 chr10:332,614...360,470
Ensembl chr10:342,097...357,364 		JBrowse link
G RPS26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr10:362,699...364,406
Ensembl chr10:362,694...364,420 		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 chr10:327,656...331,826
Ensembl chr10:327,671...331,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4879
      congenital hypoplastic anemia 231
        Diamond-Blackfan anemia 148
          Diamond-Blackfan anemia 10 3
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Hemic and Lymphatic Diseases 3680
        hematopoietic system disease 3188
          bone marrow disease 736
            Bone Marrow Failure Disorders 299
              aplastic anemia 274
                pure red-cell aplasia 151
                  Diamond-Blackfan anemia 148
                    Diamond-Blackfan anemia 10 3
paths to the root