Preferred Name |
Wiskott-Aldrich Syndrome |
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Synonyms |
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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. |
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ID |
http://purl.obolibrary.org/obo/NCIT_C3448 |
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ALT_DEFINITION |
A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common. An inherited immune disorder that occurs in young boys. It causes eczema (a type of skin inflammation), a decrease in the number of platelets (blood cells that help prevent bleeding), and frequent bacterial infections. People with Wiskott-Aldrich syndrome are at increased risk of developing leukemia and lymphoma. |
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code |
C3448 |
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Contributing_Source |
Cellosaurus CTRP NICHD |
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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. |
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Display_Name |
Wiskott-Aldrich Syndrome |
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in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C132009 |
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label |
Wiskott-Aldrich Syndrome |
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Legacy Concept Name |
Wiskott-Aldrich_Syndrome |
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Preferred_Name |
Wiskott-Aldrich Syndrome |
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prefixIRI |
NCIT:C3448 |
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prefLabel |
Wiskott-Aldrich Syndrome |
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Semantic_Type |
Disease or Syndrome |
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UMLS_CUI |
C0043194 |
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subClassOf |