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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:Nonimmune Chronic Idiopathic Neutropenia, Adult
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Accession:DOID:9006946 term browser browse the term
Synonyms:exact_synonym: NI-CINA;   Nonimmune Chronic Idiopathic Neutropenia of Adults
 primary_id: MESH:C564320
 alt_id: OMIM:607847
For additional species annotation, visit the Alliance of Genome Resources.


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Nonimmune Chronic Idiopathic Neutropenia, Adult term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by OMIM:607847 OMIM
ClinVar
PMID:11807637, PMID:12778173 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          Nonimmune Chronic Idiopathic Neutropenia, Adult 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          leukocyte disease 498
            leukopenia 126
              agranulocytosis 64
                neutropenia 60
                  Nonimmune Chronic Idiopathic Neutropenia, Adult 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.