Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Seizure (HP:0001250)

Parent Node:
Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)

..Starting node
..Complex febrile seizure (HP:0011172)

Term ID:

11172

Name:

Complex febrile seizure

Synonym:

Complex febrile convulsion; Complex febrile seizures; Complex fever fit

Definition:

A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period.

Comments:

Reference:

HP:0011172

Genes and Diseases:

Child Nodes:

Sister Nodes:

Simple febrile seizure (HP:0011171)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011172	HP:0011172	Complex febrile seizure	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040282 - Frequent	1
HP:0011172	HP:0011172	Complex febrile seizure	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0011172	HP:0011172	Complex febrile seizure	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0011172	HP:0011172	Complex febrile seizure	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0011172	HP:0011172	Complex febrile seizure	0	FAR1 CL E G H	84188	26222	OMIM:619338	CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD		7
HP:0011172	HP:0011172	Complex febrile seizure	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0011172	HP:0011172	Complex febrile seizure	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0011172	HP:0011172	Complex febrile seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0011172	HP:0011172	Complex febrile seizure	0	PCDH19 CL E G H	57526	14270	ORPHA:101039	Female restricted epilepsy with intellectual disability	HP:0040283 - Occasional	225
HP:0011172	HP:0011172	Complex febrile seizure	0	PDE2A CL E G H	5138	8777	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040283 - Occasional
HP:0011172	HP:0011172	Complex febrile seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0011172	HP:0011172	Complex febrile seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040283 - Occasional	94
HP:0011172	HP:0011172	Complex febrile seizure	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0011172	HP:0011172	Complex febrile seizure	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0011172	HP:0011172	Complex febrile seizure	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0011172	HP:0011172	Complex febrile seizure	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0011172	HP:0011172	Complex febrile seizure	0	SCN8A CL E G H	6334	10596	ORPHA:31709	Infantile convulsions and choreoathetosis	HP:0040283 - Occasional	357
HP:0011172	HP:0011172	Complex febrile seizure	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318
HP:0011172	HP:0011172	Complex febrile seizure	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0011172	HP:0032656	Febrile status epilepticus	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44

Genes (16) :ADORA2A ATP1A2 CACNA1A COG4 FAR1 GABRA1 GABRG2 PCDH19 PDE2A PRRT2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC25A12

Diseases (8) :ORPHA:363549 ORPHA:569 ORPHA:263501 OMIM:619338 ORPHA:33069 ORPHA:101039 ORPHA:31709 OMIM:612949

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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