Wiskott-aldrich syndrome 2

Preferred Label : Wiskott-aldrich syndrome 2;

Symbol : WAS2;

CISMeF acronym : WAS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Wipf1 deficiency; Wip deficiency;

Prefixed ID : #614493;

Details

Origin ID

614493;

UMLS CUI

C3281001;

Automatic exact mappings (from CISMeF team)
- WIPF1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Wiskott-Aldrich Syndrome 2 [NCIt concept]
Genes related to phenotype
- Was/wasl-interacting protein family, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased proportion of CD8-positive T cells [HPO term]
- Defective T cell proliferation [HPO term]
- Eczema [HPO term]
- Recurrent infections [HPO term]
- Reduced natural killer cell activity [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Wiskott-Aldrich syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Wiskott-Aldrich Syndrome 2 [NCIt concept]

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