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 inner ear (HP:0011389)

Grandparent Node:
Hearing impairment (HP:0000365)

Parent Node:
Sensorineural hearing impairment (HP:0000407)

..Starting node
..Adult onset sensorineural hearing impairment (HP:0008615)

Term ID:

8615

Name:

Adult onset sensorineural hearing impairment

Synonym:

Late sensorineural hearing loss; Sensorineural deafness, late-onset

Definition:

The presence of sensorineural deafness with late onset.

Comments:

Reference:

HP:0008615

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

Profound sensorineural hearing impairment (HP:0011476)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008615	HP:0008615	Adult onset sensorineural hearing impairment	0	DGUOK CL E G H	1716	2858	ORPHA:329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	HP:0040282 - Frequent	57
HP:0008615	HP:0008615	Adult onset sensorineural hearing impairment	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0008615	HP:0008615	Adult onset sensorineural hearing impairment	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	199
HP:0008615	HP:0008615	Adult onset sensorineural hearing impairment	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040282 - Frequent	55
HP:0008615	HP:0008615	Adult onset sensorineural hearing impairment	0	GJB6 CL E G H	10804	4288	OMIM:612643	Deafness, autosomal dominant 3B	.	56

Genes (5) :DGUOK DKK1 ERCC6 ERCC8 GJB6

Diseases (4) :ORPHA:329314 ORPHA:268882 ORPHA:90324 OMIM:612643

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