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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 49,250,436 49,264,932 RGD:13592920
G WAS WASP actin nucleation promoting factor JBrowse link X 48,683,753 48,691,427 RGD:1599803
RGD:8554872
RGD:7240710
RGD:11554173
G WIPF1 WAS/WASL interacting protein family member 1 JBrowse link 2 174,559,574 174,682,913 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 2 174,559,574 174,682,913 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16645
    disease of anatomical entity 15627
      hematopoietic system disease 1559
        hemorrhagic disease 585
          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 16645
    Developmental Diseases 10500
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8670
        genetic disease 8150
          monogenic disease 5651
            X-linked monogenic disease 1037
              X-linked recessive disease 231
                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.