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
..High-frequency sensorineural hearing impairment (HP:0001757)

Term ID:

1757

Name:

High-frequency sensorineural hearing impairment

Synonym:

High frequency sensorineural hearing impairment; High-tone sensorineural deafness; High-tone sensorineural hearing impairment

Definition:

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

Comments:

Reference:

HP:0001757

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)

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:0001757	HP:0001757	High-frequency sensorineural hearing impairment	0	ASAH1 CL E G H	427	735	ORPHA:2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	HP:0040283 - Occasional	78
HP:0001757	HP:0001757	High-frequency sensorineural hearing impairment	0	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0001757	HP:0001757	High-frequency sensorineural hearing impairment	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0001757	HP:0001757	High-frequency sensorineural hearing impairment	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.	13
HP:0001757	HP:0001757	High-frequency sensorineural hearing impairment	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0001757	HP:0001757	High-frequency sensorineural hearing impairment	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (6) :ASAH1 CEP250 FGF3 FKBP14 LMNA ZMPSTE24

Diseases (5) :ORPHA:2590 OMIM:618358 ORPHA:2791 OMIM:614557 ORPHA:740

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