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:
Abnormal cochlea morphology (HP:0000375)

Grandparent Node:
Aplasia/Hypoplasia of the inner ear (HP:0008774)

Parent Node:
Aplasia/Hypoplasia of the cochlea (HP:0011395)

..Starting node
..Hypoplasia of the cochlea (HP:0008586)

Term ID:

8586

Name:

Hypoplasia of the cochlea

Synonym:

Hypoplastic cochlea; Underdeveloped cochlea

Definition:

Developmental hypoplasia of the cochlea.

Comments:

Reference:

HP:0008586

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cochlear aplasia (HP:0011375)

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:0008586	HP:0008586	Hypoplasia of the cochlea	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	33
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	121
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0008586	HP:0008586	Hypoplasia of the cochlea	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	274

Genes (7) :DDX11 EYA1 FOXI1 KCNJ10 SIX1 SIX5 SLC26A4

Diseases (6) :OMIM:613398 ORPHA:107 OMIM:602588 OMIM:113650 OMIM:166780 ORPHA:705

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