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:
Hearing abnormality (HP:0000364)

Parent Node:
Hearing impairment (HP:0000365)

..Starting node
..Moderate hearing impairment (HP:0012713)

Term ID:

12713

Name:

Moderate hearing impairment

Synonym:

Moderate hearing impairment

Definition:

The presence of a moderate form of hearing impairment.

Comments:

Reference:

HP:0012713

Genes and Diseases:

Child Nodes:

........

Moderate sensorineural hearing impairment (HP:0008504)

........

Moderate conductive hearing impairment (HP:0012716)

Sister Nodes:

Aminoglycoside-induced hearing loss (HP:0011975)

Conductive hearing impairment (HP:0000405)

High-frequency hearing impairment (HP:0005101)

Low-frequency hearing loss (HP:0008542)

Mid-frequency hearing loss (HP:0012781)

Mild hearing impairment (HP:0012712)

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:0012713	HP:0012713	Moderate hearing impairment	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0012713	HP:0012716	Moderate conductive hearing impairment	1	CL E G H
HP:0012713	HP:0008504	Moderate sensorineural hearing impairment	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3

Genes (1) :PNPLA8

Diseases (1) :OMIM:251950

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