Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000598	HP:0000598	Abnormality of the ear	0	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000598	Abnormality of the ear	0	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000598	Abnormality of the ear	0	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000598	Abnormality of the ear	0	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000598	Abnormality of the ear	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000598	Abnormality of the ear	0	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000598	Abnormality of the ear	0	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000598	Abnormality of the ear	0	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000598	Abnormality of the ear	0	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000598	Abnormality of the ear	0	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000598	Abnormality of the ear	0	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000598	Abnormality of the ear	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000598	Abnormality of the ear	0	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000598	Abnormality of the ear	0	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0000598	Abnormality of the ear	0	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0000598	Abnormality of the ear	0	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0000598	Abnormality of the ear	0	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0000598	Abnormality of the ear	0	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0000598	Abnormality of the ear	0	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0000598	Abnormality of the ear	0	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0000598	Abnormality of the ear	0	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0031703	Abnormal ear morphology	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0031704	Abnormal ear physiology	1	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0031703	Abnormal ear morphology	1	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0031704	Abnormal ear physiology	1	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0031703	Abnormal ear morphology	1	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0031704	Abnormal ear physiology	1	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0031703	Abnormal ear morphology	1	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0031704	Abnormal ear physiology	1	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0031703	Abnormal ear morphology	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0031704	Abnormal ear physiology	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0031703	Abnormal ear morphology	1	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0031704	Abnormal ear physiology	1	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0031703	Abnormal ear morphology	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0031704	Abnormal ear physiology	1	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0031703	Abnormal ear morphology	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0031704	Abnormal ear physiology	1	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0031703	Abnormal ear morphology	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0031704	Abnormal ear physiology	1	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0031703	Abnormal ear morphology	1	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0031704	Abnormal ear physiology	1	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0031703	Abnormal ear morphology	1	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0031704	Abnormal ear physiology	1	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0031703	Abnormal ear morphology	1	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0031704	Abnormal ear physiology	1	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0031703	Abnormal ear morphology	1	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0031704	Abnormal ear physiology	1	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0031703	Abnormal ear morphology	1	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0031704	Abnormal ear physiology	1	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0031703	Abnormal ear morphology	1	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0031704	Abnormal ear physiology	1	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0031703	Abnormal ear morphology	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0031704	Abnormal ear physiology	1	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0031703	Abnormal ear morphology	1	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0031704	Abnormal ear physiology	1	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0031703	Abnormal ear morphology	1	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0031704	Abnormal ear physiology	1	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0031703	Abnormal ear morphology	1	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0031704	Abnormal ear physiology	1	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0031703	Abnormal ear morphology	1	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0031704	Abnormal ear physiology	1	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0031703	Abnormal ear morphology	1	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0031704	Abnormal ear physiology	1	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0012780	Neoplasm of the ear	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0030766	Ear pain	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000364	Hearing abnormality	2	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000359	Abnormality of the inner ear	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0012780	Neoplasm of the ear	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0030766	Ear pain	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000364	Hearing abnormality	2	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000359	Abnormality of the inner ear	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0012780	Neoplasm of the ear	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0030766	Ear pain	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000364	Hearing abnormality	2	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000359	Abnormality of the inner ear	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000370	Abnormality of the middle ear	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000356	Abnormality of the outer ear	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0012780	Neoplasm of the ear	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0030766	Ear pain	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000364	Hearing abnormality	2	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0012780	Neoplasm of the ear	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0030766	Ear pain	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000364	Hearing abnormality	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000359	Abnormality of the inner ear	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000370	Abnormality of the middle ear	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000356	Abnormality of the outer ear	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0012780	Neoplasm of the ear	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0030766	Ear pain	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000364	Hearing abnormality	2	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000359	Abnormality of the inner ear	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000370	Abnormality of the middle ear	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000356	Abnormality of the outer ear	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0012780	Neoplasm of the ear	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0030766	Ear pain	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000364	Hearing abnormality	2	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000359	Abnormality of the inner ear	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000370	Abnormality of the middle ear	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000356	Abnormality of the outer ear	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0012780	Neoplasm of the ear	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0030766	Ear pain	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000364	Hearing abnormality	2	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000359	Abnormality of the inner ear	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000370	Abnormality of the middle ear	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000356	Abnormality of the outer ear	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0012780	Neoplasm of the ear	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0030766	Ear pain	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000364	Hearing abnormality	2	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0012780	Neoplasm of the ear	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0030766	Ear pain	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000364	Hearing abnormality	2	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0012780	Neoplasm of the ear	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0030766	Ear pain	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000364	Hearing abnormality	2	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000359	Abnormality of the inner ear	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000370	Abnormality of the middle ear	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000356	Abnormality of the outer ear	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0012780	Neoplasm of the ear	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0030766	Ear pain	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000364	Hearing abnormality	2	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0012780	Neoplasm of the ear	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0030766	Ear pain	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000364	Hearing abnormality	2	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000359	Abnormality of the inner ear	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000370	Abnormality of the middle ear	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000356	Abnormality of the outer ear	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0012780	Neoplasm of the ear	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0030766	Ear pain	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000364	Hearing abnormality	2	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000359	Abnormality of the inner ear	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0012780	Neoplasm of the ear	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0030766	Ear pain	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0000364	Hearing abnormality	2	NECTIN1 CL E G H	5818	225060	Cleft lip/palate-ectodermal dysplasia syndrome	225060	C2931488	OMIM	1	208	9706	600644
HP:0000598	HP:0000359	Abnormality of the inner ear	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0000370	Abnormality of the middle ear	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0000356	Abnormality of the outer ear	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0012780	Neoplasm of the ear	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0030766	Ear pain	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0000364	Hearing abnormality	2	NOD2 CL E G H	64127	186580	Blau syndrome	186580	C1861303	OMIM	1	743	5331	605956
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0012780	Neoplasm of the ear	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0030766	Ear pain	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0000364	Hearing abnormality	2	PDX1 CL E G H	3651	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	145	6107	600733
HP:0000598	HP:0000359	Abnormality of the inner ear	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0000370	Abnormality of the middle ear	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0000356	Abnormality of the outer ear	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0012780	Neoplasm of the ear	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0030766	Ear pain	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0000364	Hearing abnormality	2	PLG CL E G H	5340	217090	Plasminogen deficiency, type I	217090	C1968804	OMIM	1	188	9071	173350
HP:0000598	HP:0000359	Abnormality of the inner ear	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0000370	Abnormality of the middle ear	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0000356	Abnormality of the outer ear	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0012780	Neoplasm of the ear	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0030766	Ear pain	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0000364	Hearing abnormality	2	SNAI2 CL E G H	6591	172800	Partial albinism	172800	C0080024	OMIM	1	85	11094	602150
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0012780	Neoplasm of the ear	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0030766	Ear pain	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0000364	Hearing abnormality	2	TBX1 CL E G H	6899	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	972	11592	602054
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0012780	Neoplasm of the ear	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0030766	Ear pain	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0000364	Hearing abnormality	2	TNNI2 CL E G H	7136	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	113	11946	191043
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0012780	Neoplasm of the ear	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0030766	Ear pain	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0000364	Hearing abnormality	2	TNNT3 CL E G H	7140	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	196	11950	600692
HP:0000598	HP:0000359	Abnormality of the inner ear	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0000370	Abnormality of the middle ear	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0000356	Abnormality of the outer ear	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0008771	Aplasia/Hypoplasia of the ear	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0012780	Neoplasm of the ear	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0030766	Ear pain	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0011389	Functional abnormality of the inner ear	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0000364	Hearing abnormality	2	TPM2 CL E G H	7169	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	280	12011	190990
HP:0000598	HP:0009893	Telangiectasia of the ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040099	Abnormality of the round window	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040262	Glue ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000388	Otitis media	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000357	Abnormal location of ears	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000377	Abnormality of the pinna	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040111	Bilateral external ear deformity	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008572	External ear malformation	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0400002	Extra concha fold	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0100687	Polyotia	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0008605	Unilateral external ear deformity	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0001751	Vestibular dysfunction	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0001963	Abnormal speech discrimination	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000365	Hearing impairment	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0000360	Tinnitus	3	ABCC8 CL E G H	6833	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	1569	59	600509
HP:0000598	HP:0009893	Telangiectasia of the ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040099	Abnormality of the round window	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040262	Glue ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000388	Otitis media	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000357	Abnormal location of ears	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000377	Abnormality of the pinna	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040111	Bilateral external ear deformity	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008572	External ear malformation	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0400002	Extra concha fold	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0100687	Polyotia	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0008605	Unilateral external ear deformity	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0001751	Vestibular dysfunction	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0001963	Abnormal speech discrimination	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000365	Hearing impairment	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0000360	Tinnitus	3	DGCR2 CL E G H	9993	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	409	2845	600594
HP:0000598	HP:0009893	Telangiectasia of the ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040099	Abnormality of the round window	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040262	Glue ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000388	Otitis media	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000357	Abnormal location of ears	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000377	Abnormality of the pinna	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040111	Bilateral external ear deformity	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008572	External ear malformation	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0400002	Extra concha fold	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0100687	Polyotia	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0008605	Unilateral external ear deformity	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0001751	Vestibular dysfunction	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0001963	Abnormal speech discrimination	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000365	Hearing impairment	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0000360	Tinnitus	3	DGCR6 CL E G H	8214	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	336	2846	601279
HP:0000598	HP:0009893	Telangiectasia of the ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040099	Abnormality of the round window	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040262	Glue ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000388	Otitis media	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000357	Abnormal location of ears	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000377	Abnormality of the pinna	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040111	Bilateral external ear deformity	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008572	External ear malformation	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0400002	Extra concha fold	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0100687	Polyotia	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0008605	Unilateral external ear deformity	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0001751	Vestibular dysfunction	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0001963	Abnormal speech discrimination	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000365	Hearing impairment	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0000360	Tinnitus	3	DGCR8 CL E G H	54487	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	2847	609030
HP:0000598	HP:0009893	Telangiectasia of the ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040099	Abnormality of the round window	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040262	Glue ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000388	Otitis media	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000357	Abnormal location of ears	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000377	Abnormality of the pinna	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040111	Bilateral external ear deformity	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008572	External ear malformation	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0400002	Extra concha fold	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0100687	Polyotia	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0008605	Unilateral external ear deformity	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0001751	Vestibular dysfunction	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0001963	Abnormal speech discrimination	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000365	Hearing impairment	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0000360	Tinnitus	3	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000598	HP:0009893	Telangiectasia of the ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040099	Abnormality of the round window	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040262	Glue ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000388	Otitis media	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000357	Abnormal location of ears	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000377	Abnormality of the pinna	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040111	Bilateral external ear deformity	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008572	External ear malformation	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0400002	Extra concha fold	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0100687	Polyotia	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0008605	Unilateral external ear deformity	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0001751	Vestibular dysfunction	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0001963	Abnormal speech discrimination	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000365	Hearing impairment	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0000360	Tinnitus	3	ESS2 CL E G H	8220	192430	Shprintzen syndrome	192430	C0220704	OMIM	1	398	16817	601755
HP:0000598	HP:0009893	Telangiectasia of the ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040099	Abnormality of the round window	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040262	Glue ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000388	Otitis media	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000357	Abnormal location of ears	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000377	Abnormality of the pinna	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040111	Bilateral external ear deformity	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008572	External ear malformation	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0400002	Extra concha fold	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0100687	Polyotia	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0008605	Unilateral external ear deformity	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0001751	Vestibular dysfunction	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0001963	Abnormal speech discrimination	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000365	Hearing impairment	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0000360	Tinnitus	3	GCK CL E G H	2645	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	762	4195	138079
HP:0000598	HP:0009893	Telangiectasia of the ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040099	Abnormality of the round window	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040262	Glue ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000388	Otitis media	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000357	Abnormal location of ears	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000377	Abnormality of the pinna	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040111	Bilateral external ear deformity	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008572	External ear malformation	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0400002	Extra concha fold	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0100687	Polyotia	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0008605	Unilateral external ear deformity	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0001751	Vestibular dysfunction	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0001963	Abnormal speech discrimination	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000365	Hearing impairment	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0000360	Tinnitus	3	HGD CL E G H	3081	203500	Alkaptonuria	203500	C0002066	OMIM	1	272	4892	607474
HP:0000598	HP:0009893	Telangiectasia of the ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040099	Abnormality of the round window	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040262	Glue ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000388	Otitis media	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000357	Abnormal location of ears	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000377	Abnormality of the pinna	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040111	Bilateral external ear deformity	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008572	External ear malformation	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0400002	Extra concha fold	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0100687	Polyotia	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0008605	Unilateral external ear deformity	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0001751	Vestibular dysfunction	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0001963	Abnormal speech discrimination	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000365	Hearing impairment	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0000360	Tinnitus	3	INS CL E G H	3630	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	168	6081	176730
HP:0000598	HP:0009893	Telangiectasia of the ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040099	Abnormality of the round window	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040262	Glue ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000388	Otitis media	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000357	Abnormal location of ears	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000377	Abnormality of the pinna	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040111	Bilateral external ear deformity	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008572	External ear malformation	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0400002	Extra concha fold	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0100687	Polyotia	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0008605	Unilateral external ear deformity	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0001751	Vestibular dysfunction	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0001963	Abnormal speech discrimination	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000365	Hearing impairment	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0000360	Tinnitus	3	KCNJ11 CL E G H	3767	606176	Permanent neonatal diabetes mellitus	606176	C1833104	OMIM	1	380	6257	600937
HP:0000598	HP:0009893	Telangiectasia of the ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040099	Abnormality of the round window	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040262	Glue ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000388	Otitis media	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000357	Abnormal location of ears	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000377	Abnormality of the pinna	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040111	Bilateral external ear deformity	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008572	External ear malformation	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0400002	Extra concha fold	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0100687	Polyotia	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0008605	Unilateral external ear deformity	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0001751	Vestibular dysfunction	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0001963	Abnormal speech discrimination	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000365	Hearing impairment	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0000360	Tinnitus	3	KCNQ1 CL E G H	3784	192500	Long QT syndrome 1	192500	C0035828	OMIM	1	1768	6294	607542
HP:0000598	HP:0009893	Telangiectasia of the ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040099	Abnormality of the round window	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040262	Glue ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000388	Otitis media	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000357	Abnormal location of ears	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000377	Abnormality of the pinna	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040111	Bilateral external ear deformity	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008572	External ear malformation	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0400002	Extra concha fold	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0100687	Polyotia	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0008605	Unilateral external ear deformity	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0001751	Vestibular dysfunction	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0001963	Abnormal speech discrimination	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000365	Hearing impairment	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0000360	Tinnitus	3	KIT CL E G H	3815	172800	Partial albinism	172800	C0080024	OMIM	1	2137	6342	164920
HP:0000598	HP:0009893	Telangiectasia of the ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040099	Abnormality of the round window	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040262	Glue ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000388	Otitis media	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000357	Abnormal location of ears	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000377	Abnormality of the pinna	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040111	Bilateral external ear deformity	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008572	External ear malformation	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0400002	Extra concha fold	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0100687	Polyotia	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0008605	Unilateral external ear deformity	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0001751	Vestibular dysfunction	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0001963	Abnormal speech discrimination	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000365	Hearing impairment	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0000360	Tinnitus	3	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000598	HP:0009893	Telangiectasia of the ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040099	Abnormality of the round window	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040100	Abnormality of the vestibular window	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0011390	Morphological abnormality of the inner ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008774	Aplasia/Hypoplasia of the inner ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040096	Neoplasm of the inner ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040115	Abnormality of the Eustachian tube	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040090	Abnormality of the tympanic membrane	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0011452	Functional abnormality of the middle ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040262	Glue ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008609	Morphological abnormality of the middle ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008773	Aplasia/Hypoplasia of the middle ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0100799	Neoplasm of the middle ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000388	Otitis media	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040268	Recurrent infections of the middle ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000357	Abnormal location of ears	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:3000022	Abnormality of cartilage of external ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000372	Abnormality of the auditory canal	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000377	Abnormality of the pinna	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008772	Aplasia/Hypoplasia of the external ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040111	Bilateral external ear deformity	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008572	External ear malformation	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0400002	Extra concha fold	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008608	Hypertrophic auricular cartilage	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0040095	Neoplasm of the outer ear	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0100687	Polyotia	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0008605	Unilateral external ear deformity	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0000407	Sensorineural hearing impairment	3	MYH3 CL E G H	4621	601680	Distal arthrogryposis type 2B	601680	C1834523	OMIM	1	641	7573	160720
HP:0000598	HP:0001751	Vestibular dysfunction	3	MYH3 CL