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Last uploaded: January 31, 2024
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Preferred Name

Wiskott-Aldrich syndrome
Synonyms
Definitions

A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3448" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3448" NCI Thesaurus)
ID

http://purl.bioontology.org/ontology/PDQ/CDR0000586518
cui

C0043194
DATE FIRST PUBLISHED

2008-01-29
Date last modified

2017-03-30
definition

A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. Check for "https://www.cancer.gov/about-cancer/treatment/clinical-trials/intervention/C3448" active clinical trials using this agent. ("http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C3448" NCI Thesaurus)
NCI ID

C3448
notation

CDR0000586518
ORIG STY

Genetic condition
prefLabel

Wiskott-Aldrich syndrome
tui

T047
subClassOf

http://purl.bioontology.org/ontology/PDQ/CDR0000586517
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http://purl.bioontology.org/ontology/MDRGER/10047992 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10001659 MDRGER CUI
http://purl.bioontology.org/ontology/CSP/1849-0285 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10001659 MDRFRE CUI
http://purl.bioontology.org/ontology/OMIM/301000 OMIM CUI
http://purl.bioontology.org/ontology/MSHFRE/D014923 MSHFRE CUI
http://purl.bioontology.org/ontology/MESH/D014923 MESH CUI
http://purl.bioontology.org/ontology/ICD10/D82.0 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10047992 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/C3912 RCD CUI
http://purl.bioontology.org/ontology/ICD10CM/D82.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/DC-51210 SNMI CUI
http://purl.bioontology.org/ontology/ICD9CM/279.12 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10047992 MDRFRE CUI
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http://purl.bioontology.org/ontology/OMIM/300392 OMIM CUI
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urn:agi-folder:wiskott-aldrich_syndrome BPT LOOM