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:
Functional abnormality of the middle ear (HP:0011452)

Grandparent Node:
Hearing impairment (HP:0000365)

Parent Node:
Conductive hearing impairment (HP:0000405)

..Starting node
..Congenital conductive hearing impairment (HP:0008591)

Term ID:

8591

Name:

Congenital conductive hearing impairment

Synonym:

Congenital conductive deafness; Congenital conductive hearing loss

Definition:

A type of conductive deafness with congenital onset.

Comments:

Reference:

HP:0008591

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral conductive hearing impairment (HP:0008513)

Mild conductive hearing impairment (HP:0008598)

Mixed hearing impairment (HP:0000410)

Moderate conductive hearing impairment (HP:0012716)

Progressive conductive hearing impairment (HP:0008607)

Severe conductive hearing impairment (HP:0012717)

Unilateral conductive hearing impairment (HP:0040119)

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:0008591	HP:0008591	Congenital conductive hearing impairment	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9

Genes (1) :ALX3

Diseases (1) :ORPHA:391474

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