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
..Sleep-wake inversion (HP:0031849)

Term ID:

31849

Name:

Sleep-wake inversion

Synonym:

Inverted sleep-wake cycle

Definition:

A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night.

Comments:

Reference:

HP:0031849

Genes and Diseases:

Child Nodes:

Sister Nodes:

Early chronotype (HP:0031873)

Late chronotype (HP:0031874)

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:0031849	HP:0031849	Sleep-wake inversion	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	69
HP:0031849	HP:0031849	Sleep-wake inversion	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	150

Genes (2) :GNS RAI1

Diseases (2) :OMIM:252940 OMIM:182290

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