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
..Atresia of the external auditory canal (HP:0000413)

Term ID:

413

Name:

Atresia of the external auditory canal

Synonym:

Absent auditory canals; Absent ear canal; Absent external auditory canals; Atresia of the external auditory canals; Atretic auditory canal; Atretic auditory canals; Atretic external auditory canal; Atretic external auditory canals; Auditory canal atresia; External acoustic meatus atresia; External auditory canal atresia; External auditory meatal atresia; External auditory meatus atresia

Definition:

Absence or failure to form of the external auditory canal.

Comments:

Reference:

HP:0000413

Genes and Diseases:

Child Nodes:

........

Cutaneous atresia of the external auditory canal (HP:0040101)

........

Osseous atresia of the external auditory canal (HP:0040102)

Sister Nodes:

Cerumen abnormality (HP:0030787)

Exostosis of the external auditory canal (HP:0004459)

Otitis externa (HP:0410017)

Stenosis of the external auditory canal (HP:0000402)

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:0000413	HP:0000413	Atresia of the external auditory canal	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN		45
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	135
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	135
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional	135
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent	175
HP:0000413	HP:0000413	Atresia of the external 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:0000413	HP:0000413	Atresia of the external 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:0000413	HP:0000413	Atresia of the external auditory canal	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	353
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	263
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040284 - Very rare	270
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040282 - Frequent	270
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040283 - Occasional	80
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	37
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	HOXA2 CL E G H	3199	5103	ORPHA:83463	Microtia	HP:0040282 - Frequent	21
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	KIF15 CL E G H	56992	17273	OMIM:619981
HP:0000413	HP:0000413	Atresia of the external 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:0000413	HP:0000413	Atresia of the external auditory canal	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	494
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040283 - Occasional	3
HP:0000413	HP:0000413	Atresia of the external 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:0000413	HP:0000413	Atresia of the external 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:0000413	HP:0000413	Atresia of the external auditory canal	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	25
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SIX1 CL E G H	6495	10887	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	50
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SIX1 CL E G H	6495	10887	ORPHA:52429	Branchiootic syndrome	HP:0040282 - Frequent	50
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SIX5 CL E G H	147912	10891	ORPHA:107	BOR syndrome	HP:0040282 - Frequent	10
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	135
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040281 - Very frequent	91
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SMCHD1 CL E G H	23347	29090	OMIM:603457	Bosma arhinia microphthalmia syndrome		174
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040282 - Frequent	6
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	TSHZ1 CL E G H	10194	10669	OMIM:607842	Aural atresia, congenital		111
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040283 - Occasional	7
HP:0000413	HP:0000413	Atresia of the external auditory canal	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional	7
HP:0000413	HP:0040102	Osseous atresia of the external auditory canal	1	CL E G H
HP:0000413	HP:0040101	Cutaneous atresia of the external auditory canal	1	CL E G H

Genes (49) :ATP6V1B2 BRD4 CDC45 CDC6 CDT1 DCHS1 DDR2 EFTUD2 ERBB3 EYA1 FAT4 FGFR2 FKRP FKTN FRAS1 FREM2 GLI3 GMNN GRIP1 GSC HDAC8 HOXA2 KIF15 LARGE1 NIPBL NOTCH3 ORC1 ORC4 ORC6 PAX1 POMT1 POMT2 RAD21 RPL11 RPL26 RPS26 SF3B2 SF3B4 SIX1 SIX5 SMC1A SMC3 SMCHD1 SNRPB TBC1D24 TCOF1 TP63 TSHZ1 TWIST2

Diseases (37) :ORPHA:79500 ORPHA:199 ORPHA:2554 OMIM:601390 OMIM:618175 OMIM:610536 ORPHA:79113 OMIM:243180 ORPHA:107 ORPHA:52429 ORPHA:2792 OMIM:615546 OMIM:123500 ORPHA:93259 OMIM:236670 OMIM:219000 ORPHA:2052 OMIM:146510 ORPHA:672 OMIM:602471 ORPHA:83463 OMIM:619981 ORPHA:2789 OMIM:224690 OMIM:612562 OMIM:614900 OMIM:613309 OMIM:164210 OMIM:154400 ORPHA:245 OMIM:603457 ORPHA:1393 OMIM:154500 OMIM:106260 OMIM:607842 ORPHA:920 ORPHA:1231

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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