Epilepsy, nocturnal frontal lobe, 3

Preferred Label : Epilepsy, nocturnal frontal lobe, 3;

Symbol : ENFL3;

CISMeF acronym : ENFL3;

Type : Phenotype, molecular basis known;

Prefixed ID : #605375;

Details

Origin ID

605375;

UMLS CUI

C1854335;

Broader ORDO disease(s)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
CISMeF manual mappings
- autosomal dominant nocturnal frontal lobe epilepsy 3 [DO Concept]
Currated CISMeF NLP mapping
- epilepsy, nocturnal frontal lobe, type 3 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 3 [MeSH concept]
DO Cross reference
- autosomal dominant nocturnal frontal lobe epilepsy 3 [DO Concept]
Genes related to phenotype
- Cholinergic receptor, neuronal nicotinic, beta polypeptide 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant nocturnal frontal lobe epilepsy 3 [DO Concept]
- epilepsy, nocturnal frontal lobe, type 3 [MeSH Supplementary Concept]
- epilepsy, nocturnal frontal lobe, type 3 [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant nocturnal frontal lobe epilepsy [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients