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:
Aplasia/Hypoplasia of the ear (HP:0008771)

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

Parent Node:
Abnormal cochlea morphology (HP:0000375)

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

..Starting node
..Aplasia/Hypoplasia of the cochlea (HP:0011395)

Term ID:

11395

Name:

Aplasia/Hypoplasia of the cochlea

Synonym:

Absent/small cochlea; Absent/underdeveloped cochlea

Definition:

Absence or underdevelopment of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect.

Comments:

Reference:

HP:0011395

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the cochlea (HP:0008586)

........

Cochlear aplasia (HP:0011375)

Sister Nodes:

Aplasia of the inner ear (HP:0011372)

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:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0011395	HP:0011395	Aplasia/Hypoplasia of the cochlea	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	33
HP:0011395	HP:0011375	Cochlear aplasia	1	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	121
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0011395	HP:0008586	Hypoplasia of the cochlea	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	274

Genes (8) :DDX11 EYA1 FOXI1 GREB1L KCNJ10 SIX1 SIX5 SLC26A4

Diseases (7) :OMIM:613398 ORPHA:107 OMIM:602588 OMIM:113650 OMIM:166780 ORPHA:705 OMIM:619274

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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