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 abnormality (HP:0000364)

Parent Node:
Hearing impairment (HP:0000365)

..Starting node
..Unilateral deafness (HP:0009900)

Term ID:

9900

Name:

Unilateral deafness

Synonym:

Deafness in one ear; Deafness, unilateral

Definition:

A unilateral absence of sensory perception of sound.

Comments:

Reference:

HP:0009900

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aminoglycoside-induced hearing loss (HP:0011975)

Conductive hearing impairment (HP:0000405)

High-frequency hearing impairment (HP:0005101)

Low-frequency hearing loss (HP:0008542)

Mid-frequency hearing loss (HP:0012781)

Mild hearing impairment (HP:0012712)

Moderate hearing impairment (HP:0012713)

Profound hearing impairment (HP:0012715)

Progressive hearing impairment (HP:0001730)

Sensorineural hearing impairment (HP:0000407)

Severe hearing impairment (HP:0012714)

Transient hearing impairment (HP:0012779)

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:0009900	HP:0009900	Unilateral deafness	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	68
HP:0009900	HP:0009900	Unilateral deafness	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC	1

Genes (2) :GJA1 PRR12

Diseases (2) :ORPHA:1010 OMIM:619539

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