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:
Mild hearing impairment (HP:0012712)

Parent Node:
Sensorineural hearing impairment (HP:0000407)

..Starting node
..Mild neurosensory hearing impairment (HP:0008587)

Term ID:

8587

Name:

Mild neurosensory hearing impairment

Synonym:

Mild neurosensory hearing loss

Definition:

The presence of a mild form of sensorineural hearing impairment.

Comments:

Reference:

HP:0008587

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)

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:0008587	HP:0008587	Mild neurosensory hearing impairment	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	HP:0040283 - Occasional	203
HP:0008587	HP:0008587	Mild neurosensory hearing impairment	0	PGM3 CL E G H	5238	8907	ORPHA:443811	PGM3-CDG	HP:0040283 - Occasional	15

Genes (2) :MFN2 PGM3

Diseases (2) :OMIM:601152 ORPHA:443811

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