Epilepsy, familial temporal lobe, 4

Preferred Label : Epilepsy, familial temporal lobe, 4;

Symbol : ETL4;

CISMeF acronym : EPOLM; ETL4;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Epilepsy, occipitotemporal lobe, and migraine with aura; EPOLM;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see 600512.;

Inheritance : Autosomal dominant;

Prefixed ID : %611631;

Details

Origin ID

611631;

UMLS CUI

C1968847;

Broader ORDO disease(s)
- Familial temporal lobe epilepsy [ORDO Disease]
Currated CISMeF NLP mapping
- epilepsy, familial temporal lobe, 4 [MeSH concept]
- epilepsy, familial temporal lobe, 4 [MeSH Supplementary Concept]
- familial temporal lobe epilepsy 4 [DO Concept]
DO Cross reference
- familial temporal lobe epilepsy 4 [DO Concept]
HPO term(s)
- Auditory hallucinations [HPO term]
- Autosomal dominant inheritance [HPO term]
- Epilepsy [HPO term]
- Focal aware seizure [HPO term]
- Focal impaired awareness seizure [HPO term]
- Focal sensory seizure with visual features [HPO term]
- Incomplete penetrance [HPO term]
- Migraine with aura [HPO term]
- Variable age at onset [HPO term]
ORDO concept(s)
- Familial temporal lobe epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epilepsy, familial temporal lobe, 4 [MeSH Supplementary Concept]
- epilepsy, familial temporal lobe, 4 [MeSH concept]
- familial temporal lobe epilepsy 4 [DO Concept]
Validated automatic mappings to NTBT
- Familial temporal lobe epilepsy [ORDO Disease]

Keyword's position in hierarchy(ies) :

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