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:
Behavioral abnormality (HP:0000708)

Parent Node:
Sleep disturbance (HP:0002360)

..Starting node
..Abnormal rapid eye movement sleep (HP:0002494)

Term ID:

2494

Name:

Abnormal rapid eye movement sleep

Synonym:

Abnormal REM sleep

Definition:

Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements.

Comments:

Reference:

HP:0002494

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bruxism (HP:0003763)

Excessive daytime somnolence (HP:0001262)

Hypersomnia (HP:0100786)

Insomnia (HP:0100785)

Narcolepsy (HP:0030050)

obsolete Excessive daytime sleepiness (HP:0002189)

Parasomnia (HP:0025234)

Restless legs (HP:0012452)

Sleep apnea (HP:0010535)

Sleep paralysis (HP:0025233)

Sleep-wake cycle disturbance (HP:0006979)

Snoring (HP:0025267)

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:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	COQ2 CL E G H	27235	25223	ORPHA:227510	Multiple system atrophy, cerebellar type	HP:0040282 - Frequent	54
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	COQ2 CL E G H	27235	25223	ORPHA:98933	Multiple system atrophy, parkinsonian type	HP:0040282 - Frequent	54
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent	1
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	HCRT CL E G H	3060	4847	OMIM:161400	Narcolepsy 1	.	1
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent	1
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent	2
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	462
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent	1
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent	2
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional	7
HP:0002494	HP:0002494	Abnormal rapid eye movement sleep	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent	3

Genes (14) :COQ2 CTSH HCRT HLA-DQB1 HLA-DRB1 MAGEL2 MEN1 MOG P2RY11 RFC1 SIM1 TNFSF4 YY1 ZNF365

Diseases (8) :ORPHA:227510 ORPHA:98933 ORPHA:2073 OMIM:161400 ORPHA:398069 ORPHA:97279 OMIM:614575 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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