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

..Starting node
..Abnormality of the internal auditory canal (HP:0011384)

Term ID:

11384

Name:

Abnormality of the internal auditory canal

Synonym:

Abnormality of the internal acoustic meatus

Definition:

An abnormality of the Internal acoustic meatus, i.e., of the canal in the petrous part of the temporal bone through which the cranial nerve VII and cranial nerve VIII traverse.

Comments:

Reference:

HP:0011384

Genes and Diseases:

Child Nodes:

........

Dilatated internal auditory canal (HP:0004458)

........

Absent internal auditory canal (HP:0011385)

........

Narrow internal auditory canal (HP:0011386)

Sister Nodes:

Abnormal cochlea morphology (HP:0000375)

Abnormal inner ear epithelium morphology (HP:3000002)

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

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:0011384	HP:0011384	Abnormality of the internal auditory canal	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1		135
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome		175
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome		145
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		41
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome		40
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome		4
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0011384	HP:0011384	Abnormality of the internal auditory canal	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome		18
HP:0011384	HP:0011385	Absent internal auditory canal	1	CL E G H
HP:0011384	HP:0011386	Narrow internal auditory canal	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0011384	HP:0011386	Narrow internal auditory canal	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0011384	HP:0011386	Narrow internal auditory canal	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	EYA1 CL E G H	2138	3519	OMIM:602588	Branchiootic syndrome 1	.	135
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1	.	135
HP:0011384	HP:0011386	Narrow internal auditory canal	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0011384	HP:0011386	Narrow internal auditory canal	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0011384	HP:0011386	Narrow internal auditory canal	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	GJB2 CL E G H	2706	4284	OMIM:304400	Deafness, X-linked 2		199
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	GJB6 CL E G H	10804	4288	OMIM:304400	Deafness, X-linked 2		56
HP:0011384	HP:0011386	Narrow internal auditory canal	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0011384	HP:0011386	Narrow internal auditory canal	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	41
HP:0011384	HP:0011386	Narrow internal auditory canal	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011384	HP:0011386	Narrow internal auditory canal	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0011384	HP:0011386	Narrow internal auditory canal	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	POU3F4 CL E G H	5456	9217	OMIM:304400	Deafness, X-linked 2		40
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0011384	HP:0011386	Narrow internal auditory canal	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent	4
HP:0011384	HP:0011386	Narrow internal auditory canal	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0011384	HP:0011386	Narrow internal auditory canal	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0011384	HP:0004458	Dilatated internal auditory canal	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1	.	50
HP:0011384	HP:0011386	Narrow internal auditory canal	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0011384	HP:0011386	Narrow internal auditory canal	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18

Genes (20) :AKT1 CHN1 ERF EYA1 FGFR2 FGFR3 GJB2 GJB6 MAFB OTX2 POLR1B POLR1C POLR1D POU3F4 PRRX1 PTEN SALL4 SIX1 TCOF1 TWIST1

Diseases (10) :ORPHA:744 ORPHA:233 ORPHA:207 OMIM:602588 OMIM:113650 ORPHA:794 OMIM:304400 ORPHA:990 ORPHA:861 ORPHA:1435

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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