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:
Insomnia (HP:0100785)

..Starting node
..Sleep onset insomnia (HP:0031354)

Term ID:

31354

Name:

Sleep onset insomnia

Synonym:

Difficulty falling asleep

Definition:

Difficulty initiating sleep, that is, increased sleep onset latency.

Comments:

Reference:

HP:0031354

Genes and Diseases:

Child Nodes:

Sister Nodes:

Maintenance insomnia (HP:0031355)

Terminal insomnia (HP:0031356)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031354	HP:0031354	Sleep onset insomnia	0	CRY1 CL E G H	1407	2384	OMIM:614163	Delayed sleep phase disorder, susceptibility to	1
HP:0031354	HP:0031354	Sleep onset insomnia	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	69
HP:0031354	HP:0031354	Sleep onset insomnia	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51	2
HP:0031354	HP:0031354	Sleep onset insomnia	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC	1

Genes (4) :CRY1 GNS KMT5B PRR12

Diseases (4) :OMIM:614163 OMIM:252940 OMIM:617788 OMIM:619539

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.