Human Phenotype Ontology

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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:
Functional abnormality of the inner ear (HP:0011389)

Grandparent Node:
Hearing impairment (HP:0000365)

Parent Node:
Profound hearing impairment (HP:0012715)

Parent Node:
Sensorineural hearing impairment (HP:0000407)

..Starting node
..Profound sensorineural hearing impairment (HP:0011476)

Term ID:

11476

Name:

Profound sensorineural hearing impairment

Synonym:

Definition:

Complete loss of hearing related to a sensorineural defect.

Comments:

Reference:

HP:0011476

Genes and Diseases:

Child Nodes:

Sister Nodes:

Adult onset sensorineural hearing impairment (HP:0008615)

Bilateral sensorineural hearing impairment (HP:0008619)

Childhood onset sensorineural hearing impairment (HP:0011474)

Congenital sensorineural hearing impairment (HP:0008527)

High-frequency sensorineural hearing impairment (HP:0001757)

Low-frequency sensorineural hearing impairment (HP:0008573)

Mild neurosensory hearing impairment (HP:0008587)

Mixed hearing impairment (HP:0000410)

Moderate sensorineural hearing impairment (HP:0008504)

Old-aged sensorineural hearing impairment (HP:0040113)

Progressive sensorineural hearing impairment (HP:0000408)

Severe sensorineural hearing impairment (HP:0008625)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	CIB2 CL E G H	10518	24579	OMIM:609439	Deafness, autosomal recessive 48	.	HP:0003577 - Congenital onset	15
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	HP:0003577 - Congenital onset	18
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	KCNE1 CL E G H	3753	6240	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		148
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	KCNQ1 CL E G H	3784	6294	ORPHA:90647	Jervell and Lange-Nielsen syndrome	HP:0040281 - Very frequent		730
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	MYO15A CL E G H	51168	7594	OMIM:600316	Deafness, neurosensory, autosomal recessive 3	.	HP:0003577 - Congenital onset	387
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	PMP22 CL E G H	5376	9118	ORPHA:90658	Charcot-Marie-Tooth disease type 1E	HP:0040283 - Occasional		79
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040282 - Frequent		49
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	RDX CL E G H	5962	9944	OMIM:611022	Deafness, autosomal recessive, 24	.		97
HP:0011476	HP:0011476	Profound sensorineural hearing impairment	0	SLC12A2 CL E G H	6558	10911	OMIM:619081	DEAFNESS, AUTOSOMAL DOMINANT 78; DFNA78			2

Genes (10) :CIB2 FGF3 KARS1 KCNE1 KCNQ1 MYO15A PMP22 PRPS1 RDX SLC12A2

Diseases (9) :OMIM:609439 OMIM:610706 OMIM:619196 ORPHA:90647 OMIM:600316 ORPHA:90658 ORPHA:1187 OMIM:611022 OMIM:619081

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

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