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:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Hypersomnia (HP:0100786)

Parent Node:
Reduced consciousness/confusion (HP:0004372)

..Starting node
..Episodic hypersomnia (HP:0007200)

Term ID:

7200

Name:

Episodic hypersomnia

Synonym:

Definition:

Comments:

Reference:

HP:0007200

Genes and Diseases:

Child Nodes:

Sister Nodes:

Coma (HP:0001259)

Confusion (HP:0001289)

Drowsiness (HP:0002329)

Excessive daytime somnolence (HP:0001262)

Fluctuations in consciousness (HP:0007159)

Lethargy (HP:0001254)

Loss of consciousness (HP:0007185)

obsolete Excessive daytime sleepiness (HP:0002189)

Vegetative state (HP:0031358)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007200	HP:0007200	Episodic hypersomnia	0	CL E G H

Genes (0) :

Diseases (0) :

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