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ONTOLOGY REPORT - ANNOTATIONS


Term:WHIM syndrome
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Accession:DOID:0060591 term browser browse the term
Definition:An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)
Synonyms:exact_synonym: WHIMS;   warts, hypogammaglobulinemia, infections, and myelokathexis;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome;   warts-hypogammaglobulinemia-infections-myelokathexis syndrome
 primary_id: MESH:C536697
 alt_id: OMIM:193670;   RDO:0002350
 xref: GARD:9297
For additional species annotation, visit the Alliance of Genome Resources.


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WHIM syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cxcr4 C-X-C motif chemokine receptor 4 JBrowse link 13 45,314,952 45,318,856 RGD:734860
RGD:7240710
RGD:8554872
RGD:11554173
G Dars aspartyl-tRNA synthetase JBrowse link 13 45,074,067 45,127,815 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      primary immunodeficiency disease 951
        WHIM syndrome 2
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          skin disease 2445
            Skin Neoplasms 197
              skin benign neoplasm 46
                Benign Skin Neoplasms, Epithelial 12
                  skin papilloma 12
                    WHIM syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.