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
..Simple febrile seizure (HP:0011171)

Term ID:

11171

Name:

Simple febrile seizure

Synonym:

Simple febrile convulsion; Simple febrile seizures; Simple fever fit

Definition:

A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.

Comments:

Reference:

HP:0011171

Genes and Diseases:

Child Nodes:

Sister Nodes:

Complex febrile seizure (HP:0011172)

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:0011171	HP:0011171	Simple febrile seizure	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0011171	HP:0011171	Simple febrile seizure	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0011171	HP:0011171	Simple febrile seizure	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0011171	HP:0011171	Simple febrile seizure	0	CPLX1 CL E G H	10815	2309	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	1
HP:0011171	HP:0011171	Simple febrile seizure	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	172
HP:0011171	HP:0011171	Simple febrile seizure	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional	134
HP:0011171	HP:0011171	Simple febrile seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:306	Benign familial infantile epilepsy	HP:0040284 - Very rare	528
HP:0011171	HP:0011171	Simple febrile seizure	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	528
HP:0011171	HP:0011171	Simple febrile seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:306	Benign familial infantile epilepsy	HP:0040284 - Very rare	302
HP:0011171	HP:0011171	Simple febrile seizure	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	302
HP:0011171	HP:0011171	Simple febrile seizure	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0011171	HP:0011171	Simple febrile seizure	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	4
HP:0011171	HP:0011171	Simple febrile seizure	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040284 - Very rare	7
HP:0011171	HP:0011171	Simple febrile seizure	0	PRRT2 CL E G H	112476	30500	ORPHA:306	Benign familial infantile epilepsy	HP:0040284 - Very rare	94
HP:0011171	HP:0011171	Simple febrile seizure	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0011171	HP:0011171	Simple febrile seizure	0	SCN2A CL E G H	6326	10588	ORPHA:306	Benign familial infantile epilepsy	HP:0040284 - Very rare	427
HP:0011171	HP:0011171	Simple febrile seizure	0	SCN3A CL E G H	6328	10590	OMIM:617935	Epilepsy, familial focal, with variable foci 4		70
HP:0011171	HP:0011171	Simple febrile seizure	0	SCN8A CL E G H	6334	10596	ORPHA:306	Benign familial infantile epilepsy	HP:0040284 - Very rare	357
HP:0011171	HP:0011171	Simple febrile seizure	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0011171	HP:0011171	Simple febrile seizure	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0011171	HP:0011171	Simple febrile seizure	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0011171	HP:0011171	Simple febrile seizure	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	108
HP:0011171	HP:0011171	Simple febrile seizure	0	TBC1D24 CL E G H	57465	29203	ORPHA:352582	Familial infantile myoclonic epilepsy	HP:0040282 - Frequent	271
HP:0011171	HP:0011171	Simple febrile seizure	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0011171	HP:0011171	Simple febrile seizure	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0011171	HP:0011171	Simple febrile seizure	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0011171	HP:0011171	Simple febrile seizure	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0011171	HP:0011171	Simple febrile seizure	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20

Genes (26) :AASS AP2M1 CHD2 CPLX1 DEPDC5 DYRK1A KCNQ2 KCNQ3 NEXMIF NPRL2 NPRL3 PRRT2 SCN1A SCN2A SCN3A SCN8A SEPSECS SLC2A1 SLC6A1 SYNGAP1 TBC1D24 TSEN15 TSEN2 TSEN34 TSEN54 WAC

Diseases (10) :ORPHA:2203 ORPHA:1942 ORPHA:352582 ORPHA:98820 ORPHA:464311 ORPHA:306 ORPHA:1949 OMIM:617935 ORPHA:2524 ORPHA:466950

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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