Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6

Preferred Label : Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6;

Symbol : IIAE6;

CISMeF acronym : IIAE6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Herpes simplex encephalitis, susceptibility to, 4;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the TIR domain-containing adaptor molecule 1 gene (TICAM1, 607601.0001);

Prefixed ID : #614850;

Détails

Origin ID

614850;

UMLS CUI

C3553869;

Automatic exact mappings (from CISMeF team)
- TICAM1 wt Allele [NCIt concept]
Genes related to phenotype
- Tir domain-containing adaptor molecule 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Herpes simplex encephalitis [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Herpes simplex virus encephalitis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Herpes simplex virus encephalitis [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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