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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:WHIM Syndrome 2
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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


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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 21108
    syndrome 10708
      primary immunodeficiency disease 4124
        WHIM Syndrome 10
          WHIM Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Hemic and Lymphatic Diseases 3821
        hematopoietic system disease 3312
          leukocyte disease 1288
            leukopenia 556
              agranulocytosis 489
                neutropenia 485
                  WHIM Syndrome 10
                    WHIM Syndrome 2 1
paths to the root