Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618482 http://purl.bioontology.org/ontology/OMIM/618482
Preferred Name	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
Synonyms	GEFSP10 GEFS+10 GEFS+, TYPE 10
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GEFSP10 GEFS+10 GEFS+, TYPE 10
prefLabel	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
Gene Symbol	HCN1 GEFSP10 DEE24 BCNG1
Scope Statement	Variable severity and expressivity [MISCELLANEOUS] Onset in first months or years of life [MISCELLANEOUS] Caused by mutation in the hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 gene (HCN1, 602780.0008) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU008495 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU062104 http://purl.bioontology.org/ontology/OMIM/MTHU004607 http://purl.bioontology.org/ontology/OMIM/MTHU021298 http://purl.bioontology.org/ontology/OMIM/MTHU055540 See more See less
tui	T047
Gene Locus	5p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618482
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5193120
OMIM Entry Type	3
OMIM MimType Value	pound

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