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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 chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      hematopoietic system disease 3344
        leukocyte disease 1308
          leukopenia 560
            agranulocytosis 492
              neutropenia 488
                Severe Chronic Neutropenia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          leukocyte disease 1308
            leukopenia 560
              agranulocytosis 492
                neutropenia 488
                  Severe Chronic Neutropenia 1
paths to the root