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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:Severe Chronic Neutropenia
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Accession:DOID:9001473 term browser browse the term
Synonyms:exact_synonym: benign familial leukopenia;   chronic familial neutropenia
 primary_id: MESH:C535815



show annotations for term's descendants           Sort by:
Severe Chronic Neutropenia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CSF3R colony stimulating factor 3 receptor ISO RGD PMID:9639496 RGD:10450484 NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15674
    disease of anatomical entity 15315
      hematopoietic system disease 3383
        leukocyte disease 1282
          leukopenia 515
            agranulocytosis 476
              neutropenia 473
                Severe Chronic Neutropenia 1
Path 2
Term Annotations click to browse term
  disease 15674
    disease of anatomical entity 15315
      Hemic and Lymphatic Diseases 3879
        hematopoietic system disease 3383
          leukocyte disease 1282
            leukopenia 515
              agranulocytosis 476
                neutropenia 473
                  Severe Chronic Neutropenia 1
paths to the root