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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 ISO RGD PMID:9639496 RGD:10450484 NCBI chr 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      hematopoietic system disease 3134
        leukocyte disease 1230
          leukopenia 510
            agranulocytosis 473
              neutropenia 470
                Severe Chronic Neutropenia 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      Hemic and Lymphatic Diseases 3611
        hematopoietic system disease 3134
          leukocyte disease 1230
            leukopenia 510
              agranulocytosis 473
                neutropenia 470
                  Severe Chronic Neutropenia 1
paths to the root