Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Restless legs (HP:0012452)

Term ID:

12452

Name:

Restless legs

Synonym:

Restless legs syndrome; Willis-Ekbom disease; Wittmaack-Ekbom syndrome

Definition:

A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia).

Comments:

Reference:

HP:0012452

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal rapid eye movement sleep (HP:0002494)

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)

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:0012452	HP:0012452	Restless legs	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent	8
HP:0012452	HP:0012452	Restless legs	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0012452	HP:0012452	Restless legs	0	FTL CL E G H	2512	3999	OMIM:615604	L-ferritin deficiency, dominant and recessive		33
HP:0012452	HP:0012452	Restless legs	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0012452	HP:0012452	Restless legs	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0012452	HP:0012452	Restless legs	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040283 - Occasional	203
HP:0012452	HP:0012452	Restless legs	0	NEFL CL E G H	4747	7739	ORPHA:101085	Charcot-Marie-Tooth disease type 1F	HP:0040283 - Occasional	118
HP:0012452	HP:0012452	Restless legs	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0012452	HP:0012452	Restless legs	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0012452	HP:0012452	Restless legs	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0012452	HP:0012452	Restless legs	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0012452	HP:0012452	Restless legs	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0012452	HP:0012452	Restless legs	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0012452	HP:0012452	Restless legs	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0012452	HP:0012452	Restless legs	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8

Genes (15) :ATXN7 DNAJC6 FTL HTRA2 LRRK2 MFN2 NEFL PARK7 PINK1 PODXL PRKN SNCA SYNJ1 UCHL1 VPS13C

Diseases (5) :ORPHA:94147 ORPHA:2828 OMIM:615604 ORPHA:99947 ORPHA:101085

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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