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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 term: Neutropenia, nonimmune chronic idiopathic, of adults
ClinVar Annotator: match by OMIM:607847
OMIM
ClinVar
PMID:11807637 PMID:12778173 PMID:25741868 NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:22133767 RGD:11038657 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Nonimmune Chronic Idiopathic Neutropenia, Adult 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          leukocyte disease 518
            leukopenia 127
              agranulocytosis 63
                neutropenia 59
                  Nonimmune Chronic Idiopathic Neutropenia, Adult 2
paths to the root