Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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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 |