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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:Dursun Syndrome
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Accession:DOID:9003802 term browser browse the term
Synonyms:exact_synonym: Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect
 primary_id: MESH:C567804
 alt_id: RDO:0015746
For additional species annotation, visit the Alliance of Genome Resources.


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Dursun Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569, PMID:20799326, PMID:25741868 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Dursun Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          leukocyte disease 498
            leukopenia 126
              agranulocytosis 64
                neutropenia 60
                  severe congenital neutropenia 11
                    Severe Congenital Neutropenia, Autosomal Recessive 4 1
                      Dursun Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.