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:
Hearing impairment (HP:0000365)

Parent Node:
Conductive hearing impairment (HP:0000405)

Parent Node:
Mild hearing impairment (HP:0012712)

Parent Node:
Severe hearing impairment (HP:0012714)

..Starting node
..Severe conductive hearing impairment (HP:0012717)

Term ID:

12717

Name:

Severe conductive hearing impairment

Synonym:

Conductive hearing loss, severe

Definition:

A severe form of conductive hearing impairment.

Comments:

Reference:

HP:0012717

Genes and Diseases:

Child Nodes:

Sister Nodes:

Severe sensorineural hearing impairment (HP:0008625)

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:0012717	HP:0012717	Severe conductive hearing impairment	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional	243

Genes (1) :COL1A2

Diseases (1) :ORPHA:230851

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