Epilepsy, familial temporal lobe, 7

Preferred Label : Epilepsy, familial temporal lobe, 7;

Symbol : ETL7;

CISMeF acronym : ETL7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the reelin gene (RELN, 600514.0003);

Prefixed ID : #616436;

Détails

Origin ID

616436;

UMLS CUI

C4225327;

CISMeF manual mappings
- familial temporal lobe epilepsy 7 [DO Concept]
DO Cross reference
- familial temporal lobe epilepsy 7 [DO Concept]
Genes related to phenotype
- Reelin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Focal sensory seizure with auditory features [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Autosomal dominant epilepsy with auditory features [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial temporal lobe epilepsy 7 [DO Concept]

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

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