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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 RPS10 on chromosome 6p21.31. (DO)
Synonyms:exact_synonym: DBA9;   RPS10-related Diamond-Blackfan anemia
 primary_id: MESH:C567650
 alt_id: OMIM:613308
For additional species annotation, visit the Alliance of Genome Resources.



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Diamond-Blackfan anemia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100361240 ribosomal protein S10-like 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
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by OMIM:613308
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
OMIM
ClinVar
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    physical disorder 3130
      congenital hypoplastic anemia 128
        Diamond-Blackfan anemia 32
          Diamond-Blackfan anemia 9 2
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Hemic and Lymphatic Diseases 2394
        hematopoietic system disease 1969
          bone marrow disease 617
            Bone Marrow Failure Disorders 188
              aplastic anemia 177
                pure red-cell aplasia 35
                  Diamond-Blackfan anemia 32
                    Diamond-Blackfan anemia 9 2
paths to the root