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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
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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
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 15992
    syndrome 6097
      primary immunodeficiency disease 1112
        WHIM syndrome 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          skin disease 2651
            Skin Neoplasms 227
              skin benign neoplasm 47
                Benign Skin Neoplasms, Epithelial 13
                  skin papilloma 13
                    WHIM syndrome 2
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