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 outer ear (HP:0000356)

Parent Node:
Abnormality of the auditory canal (HP:0000372)

..Starting node
..Stenosis of the external auditory canal (HP:0000402)

Term ID:

402

Name:

Stenosis of the external auditory canal

Synonym:

External auditory canal stenosis; Narrow auditory canals; Narrow ear canal; Narrow external auditory canals; Narrow external auditory meatus; Narrowing of passageway from outer ear to middle ear; Stenotic external auditory canal

Definition:

An abnormal narrowing of the external auditory canal.

Comments:

Reference:

HP:0000402

Genes and Diseases:

Child Nodes:

........

Slit-like opening of the exterior auditory meatus (HP:0008588)

........

Cutaneous stenosis of the external auditory canal (HP:0040103)

........

Osseous stenosis of the external auditory canal (HP:0040104)

Sister Nodes:

Atresia of the external auditory canal (HP:0000413)

Cerumen abnormality (HP:0030787)

Exostosis of the external auditory canal (HP:0004459)

Otitis externa (HP:0410017)

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:0000402	HP:0000402	Stenosis of the external auditory canal	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional	6
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040282 - Frequent	26
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000402	HP:0000402	Stenosis of the external auditory canal	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000402	HP:0040104	Osseous stenosis of the external auditory canal	1	CL E G H
HP:0000402	HP:0040103	Cutaneous stenosis of the external auditory canal	1	CL E G H
HP:0000402	HP:0008588	Slit-like opening of the exterior auditory meatus	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86

Genes (33) :ANAPC7 B3GLCT CHN1 COL2A1 COL7A1 CPLX1 CTBP1 EDN1 EDNRA EYA1 FGFR2 FGFRL1 GMNN GNAI3 HMX1 HOXA2 LETM1 MAF MAFB MED12 NSD2 POR PORCN RPL26 RPS28 SALL4 SIX1 SIX5 SLC12A2 SOST TBX15 TP63 TWIST2

Diseases (29) :OMIM:619699 OMIM:261540 ORPHA:233 ORPHA:93316 ORPHA:79409 OMIM:194190 OMIM:615706 OMIM:616367 ORPHA:107 OMIM:113650 OMIM:207410 ORPHA:93260 OMIM:616835 OMIM:602483 OMIM:612109 OMIM:612290 ORPHA:1272 ORPHA:93932 OMIM:300895 ORPHA:95699 OMIM:305600 OMIM:614900 OMIM:606164 OMIM:607323 OMIM:619080 ORPHA:1513 ORPHA:93333 OMIM:129400 OMIM:209885

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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