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:
Parasomnia (HP:0025234)

Parent Node:
Non-rapid eye movement parasomnia (HP:0025235)

..Starting node
..Confusional arousal (HP:0025237)

Term ID:

25237

Name:

Confusional arousal

Synonym:

Definition:

A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours.

Comments:

Reference:

HP:0025237

Genes and Diseases:

Child Nodes:

Sister Nodes:

Sleep terror (HP:0030765)

Somnambulism (HP:0025236)

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:0025237	HP:0025237	Confusional arousal	0	CABP4 CL E G H	57010	1386	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	94
HP:0025237	HP:0025237	Confusional arousal	0	CHRNA2 CL E G H	1135	1956	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	188
HP:0025237	HP:0025237	Confusional arousal	0	CHRNA4 CL E G H	1137	1958	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	225
HP:0025237	HP:0025237	Confusional arousal	0	CHRNB2 CL E G H	1141	1962	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	88
HP:0025237	HP:0025237	Confusional arousal	0	CRH CL E G H	1392	2355	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	1
HP:0025237	HP:0025237	Confusional arousal	0	DEPDC5 CL E G H	9681	18423	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	172
HP:0025237	HP:0025237	Confusional arousal	0	KCNT1 CL E G H	57582	18865	ORPHA:98784	Autosomal dominant nocturnal frontal lobe epilepsy	HP:0040283 - Occasional	321
HP:0025237	HP:0025237	Confusional arousal	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0025237	HP:0025237	Confusional arousal	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40

Genes (9) :CABP4 CHRNA2 CHRNA4 CHRNB2 CRH DEPDC5 KCNT1 MAGEL2 SIM1

Diseases (3) :ORPHA:98784 ORPHA:398069 ORPHA:398079

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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