Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616172 http://purl.bioontology.org/ontology/OMIM/616172
Preferred Name	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Synonyms	GEFS+, TYPE 9 GEFSP9 GEFS+9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GEFS+, TYPE 9 GEFSP9 GEFS+9
prefLabel	GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
Gene Symbol	STX1B GEFSP9
Scope Statement	Seizures tend to remit later in childhood [MISCELLANEOUS] Onset in early childhood [MISCELLANEOUS] Usually favorable response to treatment [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Caused by mutation in the syntaxin 1B gene (STX1B, 601485.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU018842 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU040723 http://purl.bioontology.org/ontology/OMIM/MTHU021299 http://purl.bioontology.org/ontology/OMIM/MTHU047988 http://purl.bioontology.org/ontology/OMIM/MTHU000393 http://purl.bioontology.org/ontology/OMIM/MTHU000392 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU047989 See more See less
tui	T047
Gene Locus	16p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616172
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C4015395
OMIM Entry Type	3
OMIM MimType Value	pound

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