You are using an outdated browser. Please upgrade your browser to improve your experience.

Wiskott-Aldrich syndrome

Disease Summary
Associated Targets (3)
Tbio

3


GARD Rare
Mondo Description Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disease characterized by microthrombocytopenia, eczema, infections and an increased risk for autoimmune manifestations and malignancies.
Uniprot Description An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.
Disease Ontology Description A X-linked recessive disease that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia).
Mondo Term and Equivalent IDs
MONDO:0010518:  Wiskott-Aldrich syndrome
COHD:440982: 
GARD:0007895: 
ICD10:D82.0: 
MESH:D014923: 
NCIT:C3448: 
Orphanet:906: 
SCTID:36070007: 
UMLS:C0043194: