Wiskott-Aldrich Syndrome 2

Preferred Label : Wiskott-Aldrich Syndrome 2;

NCIt synonyms : Wiskott-Aldrich Syndrome Interacting Protein Deficiency; WAS2;

NCIt related terms : WIP Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the WIPF1 gene, encoding WAS/WASL-interacting protein family member 1. It is characterized by recurrent infections, eczema, thrombocytopenia, and T-cell and NK-cell dysfunction.;

Details

Origin ID

C176820;

UMLS CUI

C3281001;

Currated CISMeF NLP mapping
- Wiskott-aldrich syndrome 2 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wiskott-aldrich syndrome 2 [OMIM Phenotype]
disease_mapped_to_gene
- WIPF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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