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:
Sleep disturbance (HP:0002360)

Parent Node:
Parasomnia (HP:0025234)

..Starting node
..Non-rapid eye movement parasomnia (HP:0025235)

Term ID:

25235

Name:

Non-rapid eye movement parasomnia

Synonym:

NREM parasomnia

Definition:

A parasomnia that occurs in non-rapid eye movement (NREM) sleep. This refers to a disorder of arousal that occurs during slow-wave sleep (ie, NREM stage 3 sleep).

Comments:

Reference:

HP:0025235

Genes and Diseases:

Child Nodes:

........

Somnambulism (HP:0025236)

........

Confusional arousal (HP:0025237)

........

Sleep terror (HP:0030765)

Sister Nodes:

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:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	94
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	188
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	225
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	88
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	1
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	172
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040284 - Very rare	321
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome		63
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome		40
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II		82
HP:0025235	HP:0025235	Non-rapid eye movement parasomnia	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0025235	HP:0025237	Confusional arousal	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0025235	HP:0025236	Somnambulism	1	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0025235	HP:0025237	Confusional arousal	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0025235	HP:0025236	Somnambulism	1	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0025235	HP:0025236	Somnambulism	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0025235	HP:0025237	Confusional arousal	1	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0025235	HP:0025237	Confusional arousal	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0025235	HP:0025236	Somnambulism	1	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0025235	HP:0025237	Confusional arousal	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0025235	HP:0025236	Somnambulism	1	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0025235	HP:0025237	Confusional arousal	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0025235	HP:0025236	Somnambulism	1	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0025235	HP:0025237	Confusional arousal	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0025235	HP:0025236	Somnambulism	1	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0025235	HP:0025237	Confusional arousal	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0025235	HP:0025237	Confusional arousal	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0025235	HP:0030765	Sleep terror	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0025235	HP:0030765	Sleep terror	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22

Genes (11) :CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 KCNT1 MAGEL2 SIM1 SLC25A13 SMO

Diseases (5) :ORPHA:98784 ORPHA:398069 ORPHA:398079 ORPHA:247585 OMIM:241800

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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