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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 9
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Accession:DOID:0111884 term browser browse the term
Definition:A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. (DO)
Synonyms:exact_synonym: DBA9;   RPS10-related Diamond-Blackfan anemia
 primary_id: MESH:C567650
 alt_id: OMIM:613308



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Diamond-Blackfan anemia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044
JBrowse link
G Rps10l6 ribosomal protein S10-like 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr15:18,308,287...18,309,139 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    physical disorder 4937
      congenital hypoplastic anemia 237
        Diamond-Blackfan anemia 152
          Diamond-Blackfan anemia 9 2
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          bone marrow disease 774
            Bone Marrow Failure Disorders 311
              aplastic anemia 285
                pure red-cell aplasia 155
                  Diamond-Blackfan anemia 152
                    Diamond-Blackfan anemia 9 2
paths to the root