Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:WHIM Syndrome 2
go back to main search page
Accession:DOID:9006180 term browser browse the term
Definition:An autosomal recessive immunologic disorder characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow. Caused by homozygous mutation in the CXCR2 gene on chromosome 2q35. (OMIM)
Synonyms:exact_synonym: WHIMS2;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2
 primary_id: OMIM:619407
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
WHIM Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cxcr2 C-X-C motif chemokine receptor 2 ISO ClinVar Annotator: match by term: WHIM syndrome 2 OMIM
ClinVar
PMID:24777453 PMID:25741868 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      primary immunodeficiency disease 3831
        WHIM Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Immune & Inflammatory Diseases 5178
        immune system disease 4487
          primary immunodeficiency disease 3831
            WHIM Syndrome 2 1
paths to the root