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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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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 chrNW_004955452:14,409,484...14,425,818
Ensembl chrNW_004955452:14,411,708...14,422,187
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13978
      hematopoietic system disease 3120
        leukocyte disease 1176
          leukopenia 474
            agranulocytosis 438
              neutropenia 435
                Severe Chronic Neutropenia 1
Path 2
Term Annotations click to browse term
  disease 14274
    disease of anatomical entity 13978
      Hemic and Lymphatic Diseases 3570
        hematopoietic system disease 3120
          leukocyte disease 1176
            leukopenia 474
              agranulocytosis 438
                neutropenia 435
                  Severe Chronic Neutropenia 1
paths to the root