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 abnormality (HP:0002353)

Parent Node:
Interictal EEG abnormality (HP:0025373)

..Starting node
..Continuous spike and waves during slow sleep (HP:0031491)

Term ID:

31491

Name:

Continuous spike and waves during slow sleep

Synonym:

CSWS; Electrical status epilepticus during slow-wave sleep

Definition:

Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep.

Comments:

Reference:

HP:0031491

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent posterior alpha rhythm (HP:0031518)

Increased theta frequency activity in EEG (HP:0031535)

Normal interictal EEG (HP:0002372)

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:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	CNKSR2 CL E G H	22866	19701	OMIM:301008	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG		18
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	FRRS1L CL E G H	23732	1362	ORPHA:725	Continuous spikes and waves during sleep	HP:0040281 - Very frequent	4
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	GRIN2A CL E G H	2903	4585	ORPHA:725	Continuous spikes and waves during sleep	HP:0040281 - Very frequent	434
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	GRIN2A CL E G H	2903	4585	OMIM:245570	EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD		434
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	GRIN2A CL E G H	2903	4585	ORPHA:98818	Landau-Kleffner syndrome	HP:0040281 - Very frequent	434
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	GRIN2A CL E G H	2903	4585	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	434
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	KCNC2 CL E G H	3747	6234	OMIM:619913
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	SRPX2 CL E G H	27286	30668	ORPHA:163721	Rolandic epilepsy-speech dyspraxia syndrome	HP:0040282 - Frequent	50
HP:0031491	HP:0031491	Continuous spike and waves during slow sleep	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1

Genes (6) :CNKSR2 FRRS1L GRIN2A KCNC2 SRPX2 TRIM8

Diseases (7) :OMIM:301008 ORPHA:725 OMIM:245570 ORPHA:98818 ORPHA:163721 OMIM:619913 OMIM:619428

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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