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:
Hearing abnormality (HP:0000364)

Parent Node:
Hearing impairment (HP:0000365)

..Starting node
..High-frequency hearing impairment (HP:0005101)

Term ID:

5101

Name:

High-frequency hearing impairment

Synonym:

Hearing loss, high-frequency; High frequency hearing loss; High-frequency deafness; Progressive high frequency hearing loss; Progressive high-frequency hearing loss

Definition:

A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz).

Comments:

Reference:

HP:0005101

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aminoglycoside-induced hearing loss (HP:0011975)

Conductive hearing impairment (HP:0000405)

Low-frequency hearing loss (HP:0008542)

Mid-frequency hearing loss (HP:0012781)

Mild hearing impairment (HP:0012712)

Moderate hearing impairment (HP:0012713)

Profound hearing impairment (HP:0012715)

Progressive hearing impairment (HP:0001730)

Sensorineural hearing impairment (HP:0000407)

Severe hearing impairment (HP:0012714)

Transient hearing impairment (HP:0012779)

Unilateral deafness (HP:0009900)

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:0005101	HP:0005101	High-frequency hearing impairment	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0005101	HP:0005101	High-frequency hearing impairment	0	DSPP CL E G H	1834	3054	OMIM:605594	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	.	38
HP:0005101	HP:0005101	High-frequency hearing impairment	0	GJB3 CL E G H	2707	4285	OMIM:612644	Deafness, autosomal dominant 2B	.	74
HP:0005101	HP:0005101	High-frequency hearing impairment	0	LMX1A CL E G H	4009	6653	OMIM:601412	Deafness, autosomal dominant nonsyndromic sensorineural 7	.
HP:0005101	HP:0005101	High-frequency hearing impairment	0	MYH9 CL E G H	4627	7579	OMIM:603622	Deafness, autosomal dominant nonsyndromic sensorineural 17	.	297
HP:0005101	HP:0005101	High-frequency hearing impairment	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0005101	HP:0005101	High-frequency hearing impairment	0	RPGR CL E G H	6103	10295	OMIM:300455	RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS		200
HP:0005101	HP:0005101	High-frequency hearing impairment	0	SMPX CL E G H	23676	11122	OMIM:300066	Deafness, X-linked 4	.	12

Genes (8) :AP1S2 DSPP GJB3 LMX1A MYH9 POLRMT RPGR SMPX

Diseases (8) :OMIM:304340 OMIM:605594 OMIM:612644 OMIM:601412 OMIM:603622 OMIM:619743 OMIM:300455 OMIM:300066

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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