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
..Infantile sensorineural hearing impairment (HP:0008610)

Term ID:

8610

Name:

Infantile sensorineural hearing impairment

Synonym:

Infantile sensorineural hearing loss

Definition:

A form of sensorineural hearing impairment with infantile onset.

Comments:

Reference:

HP:0008610

Genes and Diseases:

Child Nodes:

Sister Nodes:

Postlingual sensorineural hearing impairment (HP:0008596)

Prelingual sensorineural hearing impairment (HP:0000399)

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:0008610	HP:0008610	Infantile sensorineural hearing impairment	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent	96
HP:0008610	HP:0008610	Infantile sensorineural hearing impairment	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0008610	HP:0008610	Infantile sensorineural hearing impairment	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0008610	HP:0008610	Infantile sensorineural hearing impairment	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0008610	HP:0008610	Infantile sensorineural hearing impairment	0	TK2 CL E G H	7084	11831	ORPHA:254875	Mitochondrial DNA depletion syndrome, myopathic form	HP:0040283 - Occasional	103

Genes (5) :NDE1 PRG4 SARDH SETBP1 TK2

Diseases (5) :ORPHA:2177 ORPHA:2848 ORPHA:3129 ORPHA:798 ORPHA:254875

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