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:
Abnormality of the inner ear (HP:0000359)

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

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

..Starting node
..Aplasia/Hypoplasia of the inner ear (HP:0008774)

Term ID:

8774

Name:

Aplasia/Hypoplasia of the inner ear

Synonym:

Absent/small inner ear; Absent/underdeveloped inner ear

Definition:

Aplasia or developmental hypoplasia of the inner ear.

Comments:

Reference:

HP:0008774

Genes and Diseases:

Child Nodes:

........

Aplasia of the inner ear (HP:0011372)

........

Aplasia/Hypoplasia of the cochlea (HP:0011395)

................... HP:0008586 Hypoplasia of the cochlea
................... HP:0011375 Cochlear aplasia

Sister Nodes:

Abnormal cochlea morphology (HP:0000375)

Abnormal inner ear epithelium morphology (HP:3000002)

Abnormality of the internal auditory canal (HP:0011384)

Morphological abnormality of the nerves of the inner ear (HP:0011391)

Morphological abnormality of the vestibule of the inner ear (HP:0011376)

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:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia		18
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia		18
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0008774	HP:0008774	Aplasia/Hypoplasia of the inner ear	0	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome		13
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0008774	HP:0011372	Aplasia of the inner ear	1	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040281 - Very frequent	18
HP:0008774	HP:0011372	Aplasia of the inner ear	1	FGF3 CL E G H	2248	3681	OMIM:610706	Deafness, congenital, with inner ear agenesis, microtia, and microdontia	.	18
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome		33
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome		121
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0008774	HP:0011395	Aplasia/Hypoplasia of the cochlea	1	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome		274
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.	13
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	EYA1 CL E G H	2138	3519	OMIM:166780	Otofaciocervical syndrome		135
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	FOXI1 CL E G H	2299	3815	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	33
HP:0008774	HP:0011375	Cochlear aplasia	2	GREB1L CL E G H	80000	31042	OMIM:619274	DEAFNESS, AUTOSOMAL DOMINANT 80; DFNA80
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	KCNJ10 CL E G H	3766	6256	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	121
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0008774	HP:0008586	Hypoplasia of the cochlea	2	SLC26A4 CL E G H	5172	8818	ORPHA:705	Pendred syndrome	HP:0040281 - Very frequent	274

Genes (9) :DDX11 EYA1 FGF3 FOXI1 GREB1L KCNJ10 SIX1 SIX5 SLC26A4

Diseases (9) :OMIM:613398 ORPHA:107 OMIM:602588 OMIM:113650 OMIM:166780 ORPHA:90024 OMIM:610706 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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