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:
Sleep-wake cycle disturbance (HP:0006979)

..Starting node
..Early chronotype (HP:0031873)

Term ID:

31873

Name:

Early chronotype

Synonym:

Early sleep onset

Definition:

A tendency towards rising very early in the morning and going to bed early in the evening.

Comments:

Reference:

HP:0031873

Genes and Diseases:

Child Nodes:

Sister Nodes:

Late chronotype (HP:0031874)

Sleep-wake inversion (HP:0031849)

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:0031873	HP:0031873	Early chronotype	0	CSNK1D CL E G H	1453	2452	OMIM:615224	Advanced sleep phase syndrome, familial, 2	.	2
HP:0031873	HP:0031873	Early chronotype	0	PER2 CL E G H	8864	8846	OMIM:604348	Advanced sleep phase syndrome, familial, 1	.	2
HP:0031873	HP:0031873	Early chronotype	0	PER3 CL E G H	8863	8847	OMIM:616882	Advanced sleep phase syndrome, familial, 3	.	3
HP:0031873	HP:0031873	Early chronotype	0	TIMELESS CL E G H	8914	11813	OMIM:620015

Genes (4) :CSNK1D PER2 PER3 TIMELESS

Diseases (4) :OMIM:615224 OMIM:604348 OMIM:616882 OMIM:620015

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