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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 6:92,550,159...92,565,798
Ensembl chr 6:92,550,161...92,565,477
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15346
    disease of anatomical entity 15037
      hematopoietic system disease 3328
        leukocyte disease 1268
          leukopenia 516
            agranulocytosis 479
              neutropenia 476
                Severe Chronic Neutropenia 1
Path 2
Term Annotations click to browse term
  disease 15346
    disease of anatomical entity 15037
      Hemic and Lymphatic Diseases 3805
        hematopoietic system disease 3328
          leukocyte disease 1268
            leukopenia 516
              agranulocytosis 479
                neutropenia 476
                  Severe Chronic Neutropenia 1
paths to the root