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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



show annotations for term's descendants           Sort by:
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: Nonimmune chronic idiopathic neutropenia of adults
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11807637 PMID:12778173 PMID:25741868 PMID:28492532 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...29,659,561
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 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          Nonimmune Chronic Idiopathic Neutropenia, Adult 2
Path 2
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      Hemic and Lymphatic Diseases 3853
        hematopoietic system disease 3344
          leukocyte disease 1311
            leukopenia 562
              agranulocytosis 495
                neutropenia 491
                  Nonimmune Chronic Idiopathic Neutropenia, Adult 2
paths to the root