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
..Low-frequency sensorineural hearing impairment (HP:0008573)

Term ID:

8573

Name:

Low-frequency sensorineural hearing impairment

Synonym:

Low-frequency sensorineural hearing loss

Definition:

A form of sensorineural hearing impairment that affects primarily the lower frequencies.

Comments:

Reference:

HP:0008573

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)

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:0008573	HP:0008573	Low-frequency sensorineural hearing impairment	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0008573	HP:0008573	Low-frequency sensorineural hearing impairment	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0008573	HP:0008573	Low-frequency sensorineural hearing impairment	0	WFS1 CL E G H	7466	12762	OMIM:600965	Deafness, autosomal dominant 6	.	389
HP:0008573	HP:0008573	Low-frequency sensorineural hearing impairment	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (4) :LMNA STXBP2 WFS1 ZMPSTE24

Diseases (3) :ORPHA:740 OMIM:613101 OMIM:600965

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