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ONTOLOGY REPORT - ANNOTATIONS


Term:Wiskott-Aldrich syndrome
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Accession:DOID:9169 term browser browse the term
Definition:A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Synonyms:exact_synonym: Aldrich Syndrome;   Eczema Thrombocytopenia Immunodeficiency Syndrome;   Eczema-Thrombocytopenia-Immunodeficiency Syndromes;   Imd2;   Immunodeficiency 2;   WAS;   WAS1;   Wiskott Syndrome;   Wiskott-Aldrich syndrome 1
 narrow_synonym: Wiskott-Aldrich syndrome, attenuated
 primary_id: MESH:D014923
 alt_id: OMIM:301000
 xref: ICD10CM:D82.0;   ICD9CM:279.12;   NCI:C3448
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Wiskott-Aldrich syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxp3 forkhead box P3 JBrowse link X 15,753,175 15,768,648 RGD:13592920
G Was WASP actin nucleation promoting factor JBrowse link X 15,155,246 15,164,099 RGD:1599803
RGD:7240710
RGD:8554872
RGD:11554173
G Wipf1 WAS/WASL interacting protein family, member 1 JBrowse link 3 60,150,001 60,207,125 RGD:11554173
Wiskott-Aldrich Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wipf1 WAS/WASL interacting protein family, member 1 JBrowse link 3 60,150,001 60,207,125 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      hematopoietic system disease 1469
        hemorrhagic disease 492
          Wiskott-Aldrich syndrome 3
            Wiskott-Aldrich Syndrome 2 1
            Wiskott-Aldrich Syndrome, Autosomal Dominant Form 0
Path 2
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7677
        genetic disease 7166
          monogenic disease 4811
            X-linked monogenic disease 856
              X-linked recessive disease 212
                Wiskott-Aldrich syndrome 3
                  Wiskott-Aldrich Syndrome 2 1
                  Wiskott-Aldrich Syndrome, Autosomal Dominant Form 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.