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
..Sleep terror (HP:0030765)

Term ID:

30765

Name:

Sleep terror

Synonym:

Night terror; Pavor nocturnus; Sleep terrors

Definition:

Episodes of intense fear, screaming and flailing although affected individuals are still asleep.

Comments:

Reference:

HP:0030765

Genes and Diseases:

Child Nodes:

Sister Nodes:

Confusional arousal (HP:0025237)

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:0030765	HP:0030765	Sleep terror	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent	82
HP:0030765	HP:0030765	Sleep terror	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22

Genes (2) :SLC25A13 SMO

Diseases (2) :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.