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

Human Phenotype Ontology

Grandparent Node:
Functional abnormality of the inner ear (HP:0011389)

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Grandparent Node:
Hearing impairment (HP:0000365)

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Parent Node:
Sensorineural hearing impairment (HP:0000407)

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..Starting node
..Old-aged sensorineural hearing impairment (HP:0040113)

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Term ID:

40113

Name:

Old-aged sensorineural hearing impairment

Synonym:

Presbycusis

Definition:

Comments:

Reference:

Genes and Diseases:

Child Nodes:

Sister Nodes:

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Adult onset sensorineural hearing impairment (HP:0008615)

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Bilateral sensorineural hearing impairment (HP:0008619)

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Childhood onset sensorineural hearing impairment (HP:0011474)

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Congenital sensorineural hearing impairment (HP:0008527)

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High-frequency sensorineural hearing impairment (HP:0001757)

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Low-frequency sensorineural hearing impairment (HP:0008573)

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Mild neurosensory hearing impairment (HP:0008587)

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Mixed hearing impairment (HP:0000410)

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Moderate sensorineural hearing impairment (HP:0008504)

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Profound sensorineural hearing impairment (HP:0011476)

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Progressive sensorineural hearing impairment (HP:0000408)

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Severe sensorineural hearing impairment (HP:0008625)

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Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	HGMD variants	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040113	HP:0040113	Old-aged sensorineural hearing impairment	0	CAT CL E G H	847	1516	ORPHA:926	Acatalasemia	HP:0040283 - Occasional			5

Genes (1) :CAT

Diseases (1) :ORPHA:926

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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