Immunodeficiency 132a

Preferred Label : Immunodeficiency 132a;

Symbol : IMD132A;

CISMeF acronym : IIAE5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Herpes simplex encephalitis, susceptibility to, 3; IIAE5; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5;

Prefixed ID : #614849;

Details

Origin ID

614849;

UMLS CUI

C3553868;

Currated CISMeF NLP mapping
- immunodeficiency 132A [DO Concept]
DO Cross reference
- immunodeficiency 132A [DO Concept]
Genes related to phenotype
- Tnf receptor-associated factor 3 [OMIM gene]
HPO term(s)
- Acute encephalopathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Herpes simplex encephalitis [HPO term]
ORDO concept(s)
- Herpes simplex virus encephalitis [ORDO Disease]
See also inter- (CISMeF)
- TRAF3 wt Allele [NCIt concept]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Herpes simplex virus encephalitis [ORDO Disease]

Keyword's position in hierarchy(ies) :

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