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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


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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 IMP RGD PMID:9639496 RGD:10450484 NCBI chr 4:125,917,241...125,938,233
Ensembl chr 4:125,918,343...125,938,233 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16180
    disease of anatomical entity 15794
      hematopoietic system disease 3467
        leukocyte disease 1323
          leukopenia 548
            agranulocytosis 508
              neutropenia 504
                Severe Chronic Neutropenia 1
Path 2
Term Annotations click to browse term
  disease 16180
    disease of anatomical entity 15794
      Hemic and Lymphatic Diseases 3974
        hematopoietic system disease 3467
          leukocyte disease 1323
            leukopenia 548
              agranulocytosis 508
                neutropenia 504
                  Severe Chronic Neutropenia 1
paths to the root