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 impairment (HP:0000365)

Parent Node:
Sensorineural hearing impairment (HP:0000407)

Parent Node:
Severe hearing impairment (HP:0012714)

..Starting node
..Severe sensorineural hearing impairment (HP:0008625)

Term ID:

8625

Name:

Severe sensorineural hearing impairment

Synonym:

Severe sensorineural deafness; Severe sensorineural hearing loss

Definition:

A severe form of sensorineural hearing impairment.

Comments:

Reference:

HP:0008625

Genes and Diseases:

Child Nodes:

Sister Nodes:

Severe conductive hearing impairment (HP:0012717)

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:0008625	HP:0008625	Severe sensorineural hearing impairment	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	ATP6V1B2 CL E G H	526	854	ORPHA:79499	Autosomal dominant deafness-onychodystrophy syndrome	HP:0040281 - Very frequent	5
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	276
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040282 - Frequent	16
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	291
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent	212
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	TRIOBP CL E G H	11078	17009	OMIM:609823	Deafness, autosomal recessive 28	.	154
HP:0008625	HP:0008625	Severe sensorineural hearing impairment	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47

Genes (12) :ALMS1 ATP6V1B2 BRAF CHSY1 GJB2 GJB6 GPSM2 PTPN11 RAF1 TK2 TRIOBP VSX1

Diseases (9) :ORPHA:64 ORPHA:79499 ORPHA:500 ORPHA:363417 ORPHA:477 OMIM:604213 ORPHA:254875 OMIM:609823 OMIM:614195

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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