Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal respiratory system physiology (HP:0002795)

Grandparent Node:
Sleep disturbance (HP:0002360)

Parent Node:
Snoring (HP:0025267)

..Starting node
..Loud snoring (HP:0025372)

Term ID:

25372

Name:

Loud snoring

Synonym:

Has loud snoring; Have loud snoring; Heavy snoring; Snores loudly

Definition:

Particularly loud snoring, snoring at high volume.

Comments:

Reference:

HP:0025372

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0025372	HP:0025372	Loud snoring	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	54

Genes (1) :GUSB

Diseases (1) :OMIM:253220

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