ONTOLOGY REPORT - ANNOTATIONS


Term:WHIM syndrome
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Accession:DOID:0060591 term browser browse the term
Definition:An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It 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
RGD:7240710
RGD:8554872
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      primary immunodeficiency disease 936
        WHIM syndrome 1
Path 2
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  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          skin disease 2270
            Skin Neoplasms 193
              skin benign neoplasm 45
                Benign Skin Neoplasms, Epithelial 11
                  skin papilloma 11
                    WHIM syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.