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:
Sensorineural hearing impairment (HP:0000407)

Parent Node:
Childhood onset sensorineural hearing impairment (HP:0011474)

..Starting node
..Prelingual sensorineural hearing impairment (HP:0000399)

Term ID:

399

Name:

Prelingual sensorineural hearing impairment

Synonym:

Deafness, sensorineural, prelingual; Prelingual sensorineural deafness

Definition:

A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.

Comments:

Reference:

HP:0000399

Genes and Diseases:

Child Nodes:

Sister Nodes:

Infantile sensorineural hearing impairment (HP:0008610)

Postlingual sensorineural hearing impairment (HP:0008596)

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:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	ADCY1 CL E G H	107	232	OMIM:610154	Deafness, autosomal recessive 44	.	2
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	ATP2B2 CL E G H	491	815	OMIM:601386	Deafness, autosomal recessive 12	.	5
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	CDH23 CL E G H	64072	13733	OMIM:601386	Deafness, autosomal recessive 12	.	636
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M		33
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	GIPC3 CL E G H	126326	18183	OMIM:601869	DEAFNESS, AUTOSOMAL RECESSIVE 15; DFNB15		40
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	HGF CL E G H	3082	4893	OMIM:608265	Deafness, congenital neurosensory, autosomal recessive 39	.	39
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040281 - Very frequent	91
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	MARVELD2 CL E G H	153562	26401	OMIM:610153	Deafness, autosomal recessive 49	.	61
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	RIPOR2 CL E G H	9750	13872	OMIM:616515	Deafness, autosomal recessive 104	.	1
HP:0000399	HP:0000399	Prelingual sensorineural hearing impairment	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent	15

Genes (13) :ADCY1 ATP2B2 CDH23 ESPN GIPC3 GJB2 GJB6 HGF IARS2 IGF1 MARVELD2 RIPOR2 TIMM8A

Diseases (11) :OMIM:610154 OMIM:601386 OMIM:618632 OMIM:601869 ORPHA:477 OMIM:608265 ORPHA:436174 ORPHA:73272 OMIM:610153 OMIM:616515 ORPHA:52368

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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