Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/604352 http://purl.bioontology.org/ontology/OMIM/604352
Preferred Name	FEBRILE SEIZURES, FAMILIAL, 4
Synonyms	CONVULSIONS, FAMILIAL FEBRILE, 4 FEB4
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CONVULSIONS, FAMILIAL FEBRILE, 4 FEB4
prefLabel	FEBRILE SEIZURES, FAMILIAL, 4
Gene Symbol	ADGRV1 GPR98 USH2C KIAA0686 FEB4 VLGR1 MASS1 See more See less
Scope Statement	Onset 3 months of age up to 5 years [MISCELLANEOUS] Seizures remit by age 5 years [MISCELLANEOUS] Mutation in the MASS1 gene has been identified in 1 of 48 families with familial febrile seizures linked to 5q14 [MISCELLANEOUS] Genetic heterogeneity (see FEB1 121210) [MISCELLANEOUS] Caused by mutation in the homolog of the mouse monogenic, audiogenic seizure susceptibility 1 gene (MASS1, 602851.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001026 http://purl.bioontology.org/ontology/OMIM/MTHU000463 http://purl.bioontology.org/ontology/OMIM/MTHU001033 http://purl.bioontology.org/ontology/OMIM/MTHU000392 http://purl.bioontology.org/ontology/OMIM/MTHU001024 http://purl.bioontology.org/ontology/OMIM/MTHU000466 http://purl.bioontology.org/ontology/OMIM/MTHU001028 http://purl.bioontology.org/ontology/OMIM/MTHU001025 http://purl.bioontology.org/ontology/OMIM/MTHU000462 See more See less
tui	T047
Gene Locus	5q14.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	604352
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1858493
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display