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:
EEG with generalized epileptiform discharges (HP:0011198)

Parent Node:
EEG with spike-wave complexes (HP:0010850)

..Starting node
..EEG with irregular generalized spike and wave complexes (HP:0001326)

Term ID:

1326

Name:

EEG with irregular generalized spike and wave complexes

Synonym:

EEG with irregular generalised spike and wave complexes

Definition:

EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency.

Comments:

Reference:

HP:0001326

Genes and Diseases:

Child Nodes:

Sister Nodes:

EEG with polyspike wave complexes (HP:0002392)

EEG with spike-wave complexes (2.5-3.5 Hz) (HP:0010848)

EEG with spike-wave complexes (<2.5 Hz) (HP:0010847)

EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)

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:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	AP2M1 CL E G H	1173	564	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	CHD2 CL E G H	1106	1917	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	227
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	GABRG2 CL E G H	2566	4087	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	139
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	GRIN2A CL E G H	2903	4585	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	434
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	NEXMIF CL E G H	340533	29433	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	52
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	SAMD12 CL E G H	401474	31750	OMIM:601068	Epilepsy, familial adult myoclonic, 1	.	2
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	SCN1A CL E G H	6323	10585	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	1053
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	SLC2A1 CL E G H	6513	11005	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	255
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	SLC6A1 CL E G H	6529	11042	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	29
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	SRPX2 CL E G H	27286	30668	ORPHA:1945	Rolandic epilepsy	HP:0040284 - Very rare	50
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	STARD7 CL E G H	56910	18063	OMIM:607876	Epilepsy, familial adult myoclonic, 2	.
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	SYNGAP1 CL E G H	8831	11497	ORPHA:1942	Myoclonic-astatic epilepsy	HP:0040283 - Occasional	108
HP:0001326	HP:0001326	EEG with irregular generalized spike and wave complexes	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040282 - Frequent	271

Genes (13) :AP2M1 CHD2 GABRG2 GRIN2A NEXMIF SAMD12 SCN1A SLC2A1 SLC6A1 SRPX2 STARD7 SYNGAP1 TBC1D24

Diseases (5) :ORPHA:1942 ORPHA:1945 OMIM:601068 OMIM:607876 ORPHA:352596

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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