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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:hereditary neutrophilia
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Accession:DOID:0090120 term browser browse the term
Definition:A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. (DO)
Synonyms:xref: MESH:C563010;   MIM:162830;   MONDO:0008092;   ORDO:279943



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hereditary neutrophilia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:162830
ClinVar Annotator: match by term: Hereditary neutrophilia
OMIM
CTD
MouseDO
ClinVar
PMID:12203110 PMID:19620628 PMID:24753537 PMID:25741868 PMID:26324699 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      hematopoietic system disease 3839
        leukocyte disease 1346
          hereditary neutrophilia 1
Path 2
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            autosomal genetic disease 10425
              autosomal dominant disease 6779
                hereditary neutrophilia 1
paths to the root