Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615005 http://purl.bioontology.org/ontology/OMIM/615005
Preferred Name	EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
Synonyms	ENFL5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	ENFL5
prefLabel	EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
Gene Symbol	KCNT1 ENFL5 DEE14 KIAA1422
Scope Statement	Onset in childhood (mean 6 years) [MISCELLANEOUS] Caused by mutation in the potassium channel, subfamily T, member 1 gene (KCNT1, 608167.0005) [MOLECULAR BASIS] Seizures may be refractory [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU040801 http://purl.bioontology.org/ontology/OMIM/MTHU000302 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU002810 http://purl.bioontology.org/ontology/OMIM/MTHU038594 http://purl.bioontology.org/ontology/OMIM/MTHU037509 http://purl.bioontology.org/ontology/OMIM/MTHU002913 http://purl.bioontology.org/ontology/OMIM/MTHU038589 http://purl.bioontology.org/ontology/OMIM/MTHU008026 http://purl.bioontology.org/ontology/OMIM/MTHU069509 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU038595 http://purl.bioontology.org/ontology/OMIM/MTHU003629 http://purl.bioontology.org/ontology/OMIM/MTHU000940 See more See less
tui	T047
Gene Locus	9q34.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615005
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3554306
OMIM Entry Type	3
OMIM MimType Value	pound

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