Human Phenotype Ontology

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:0000372	HP:0000372	Abnormality of the auditory canal	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome		36
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome		9
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome		31
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome		50
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome		35
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant		68
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type		284
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa		263
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3		6
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome		135
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome		135
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome		135
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome		270
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome		3
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome		37
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia		21
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome		63
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome		494
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome		53
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1		53
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome		21
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome		39
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome		3
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome		25
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7		22
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome		86
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome		50
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome		50
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome		10
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome		135
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome		91
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome		6
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia		26
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia		5
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate		140
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0000372	HP:0000372	Abnormality of the auditory canal	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040284 - Very rare	7
HP:0000372	HP:0030787	Cerumen abnormality	1	CL E G H
HP:0000372	HP:0410017	Otitis externa	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0000372	HP:0410017	Otitis externa	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000372	HP:0004459	Exostosis of the external auditory canal	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.	68
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional	284
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	COL7A1 CL E G H	1294	2214	ORPHA:79409	Recessive dystrophic epidermolysis bullosa inversa	HP:0040283 - Occasional	263
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	HP:0040283 - Occasional	6
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	.	3
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000372	HP:0410017	Otitis externa	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	EYA1 CL E G H	2138	3519	OMIM:113650	Branchiootorenal syndrome 1		135
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional	135
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	GMNN CL E G H	51053	17493	OMIM:616835	Meier-Gorlin syndrome 6		3
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000372	HP:0004459	Exostosis of the external auditory canal	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked		228
HP:0000372	HP:0410017	Otitis externa	1	MRTFA CL E G H	57591	14334	OMIM:618847	IMMUNODEFICIENCY 66; IMD66
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional	3
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	RPS28 CL E G H	6234	10418	OMIM:606164	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		1
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SIX1 CL E G H	6495	10887	OMIM:113650	Branchiootorenal syndrome 1		50
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040282 - Frequent	26
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040282 - Frequent	5
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	TP63 CL E G H	8626	15979	OMIM:129400	Rapp-Hodgkin syndrome		140
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional	7
HP:0000372	HP:0000402	Stenosis of the external auditory canal	1	TWIST2 CL E G H	117581	20670	OMIM:209885	Barber-Say syndrome		7
HP:0000372	HP:0000413	Atresia of the external auditory canal	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional	7
HP:0000372	HP:0040101	Cutaneous atresia of the external auditory canal	2	CL E G H
HP:0000372	HP:0030790	Abnormal cerumen color	2	CL E G H
HP:0000372	HP:0030789	Excessive cerumen	2	CL E G H
HP:0000372	HP:0030788	Impacted cerumen	2	CL E G H
HP:0000372	HP:0040104	Osseous stenosis of the external auditory canal	2	CL E G H
HP:0000372	HP:0040103	Cutaneous stenosis of the external auditory canal	2	CL E G H
HP:0000372	HP:0040102	Osseous atresia of the external auditory canal	2	CL E G H
HP:0000372	HP:0008588	Slit-like opening of the exterior auditory meatus	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome		86