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:
Morphological abnormality of the inner ear (HP:0011390)

Parent Node:
Abnormal cochlea morphology (HP:0000375)

..Starting node
..Cochlear degeneration (HP:0005102)

Term ID:

5102

Name:

Cochlear degeneration

Synonym:

Progressive cochlear degeneration

Definition:

Deterioration or loss of the tissues of the cochlea.

Comments:

Reference:

HP:0005102

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the cochlea (HP:0011395)

Cochlear malformation (HP:0008554)

Enlarged cochlear aqueduct (HP:0011388)

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:0005102	HP:0005102	Cochlear degeneration	0	COCH CL E G H	1690	2180	OMIM:601369	Deafness, autosomal dominant 9	.	46
HP:0005102	HP:0005102	Cochlear degeneration	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent	98

Genes (2) :COCH PEX6

Diseases (2) :OMIM:601369 ORPHA:95433

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