Human Phenotype Ontology 
Grandparent Node:
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All (HP:0000001)help
Parent Node:
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Phenotypic abnormality (HP:0000118)help
..Starting node
..expand
Abnormality of the ear (HP:0000598)help
Term ID: 598
Name: Abnormality of the ear
Synonym: Abnormality of the ear; Ear anomaly
Definition: An abnormality of the ear.
Comments:
Reference: HP:0000598
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal ear morphology (HP:0031703) help
................... HP:0000356 Abnormality of the outer ear
................... HP:0000359 Abnormality of the inner ear
................... HP:0000370 Abnormality of the middle ear
................... HP:0008771 Aplasia/Hypoplasia of the ear
................... HP:0012780 Neoplasm of the ear
........expandAbnormal ear physiology (HP:0031704) help
................... HP:0000364 Hearing abnormality
................... HP:0030766 Ear pain

 Sister Nodes: 
..expandAbnormal cellular phenotype (HP:0025354) help
..expandAbnormality of blood and blood-forming tissues (HP:0001871) help
..expandAbnormality of connective tissue (HP:0003549) help
..expandAbnormality of head or neck (HP:0000152) help
..expandAbnormality of limbs (HP:0040064) help
..expandAbnormality of metabolism/homeostasis (HP:0001939) help
..expandAbnormality of prenatal development or birth (HP:0001197) help
..expandAbnormality of the breast (HP:0000769) help
..expandAbnormality of the cardiovascular system (HP:0001626) help
..expandAbnormality of the digestive system (HP:0025031) help
..expandAbnormality of the endocrine system (HP:0000818) help
..expandAbnormality of the eye (HP:0000478) help
..expandAbnormality of the genitourinary system (HP:0000119) help
..expandAbnormality of the immune system (HP:0002715) help
..expandAbnormality of the integument (HP:0001574) help
..expandAbnormality of the musculature (HP:0003011) help
..expandAbnormality of the nervous system (HP:0000707) help
..expandAbnormality of the respiratory system (HP:0002086) help
..expandAbnormality of the skeletal system (HP:0000924) help
..expandAbnormality of the thoracic cavity (HP:0045027) help
..expandAbnormality of the voice (HP:0001608) help
..expandConstitutional symptom (HP:0025142) help
..expandGrowth abnormality (HP:0001507) help
..expandNeoplasm (HP:0002664) help
..expandobsolete Abnormal test result (HP:0500014) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000598HP:0000598Abnormality of the ear0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000598Abnormality of the ear0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000598Abnormality of the ear0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000598Abnormality of the ear0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000598Abnormality of the ear0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000598Abnormality of the ear0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000598Abnormality of the ear0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0000598Abnormality of the ear0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0000598Abnormality of the ear0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0000598Abnormality of the ear0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0000598Abnormality of the ear0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0000598Abnormality of the ear0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0000598Abnormality of the ear0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0000598Abnormality of the ear0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0000598Abnormality of the ear0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0000598Abnormality of the ear0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0000598Abnormality of the ear0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0000598Abnormality of the ear0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0000598Abnormality of the ear0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0000598Abnormality of the ear0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0000598Abnormality of the ear0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0000598Abnormality of the ear0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0000598Abnormality of the ear0KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0000598Abnormality of the ear0KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0000598Abnormality of the ear0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0000598Abnormality of the ear0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0000598Abnormality of the ear0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0000598Abnormality of the ear0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0000598Abnormality of the ear0NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0000598Abnormality of the ear0NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0000598Abnormality of the ear0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0000598Abnormality of the ear0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0000598Abnormality of the ear0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0000598Abnormality of the ear0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0000598Abnormality of the ear0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0000598Abnormality of the ear0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0000598Abnormality of the ear0SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0000598Abnormality of the ear0SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0000598Abnormality of the ear0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0000598Abnormality of the ear0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0000598Abnormality of the ear0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0000598Abnormality of the ear0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0000598Abnormality of the ear0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0000598Abnormality of the ear0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0000598Abnormality of the ear0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0000598Abnormality of the ear0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0031703Abnormal ear morphology1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0031703Abnormal ear morphology1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0031704Abnormal ear physiology1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0031704Abnormal ear physiology1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0031703Abnormal ear morphology1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0031703Abnormal ear morphology1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0031704Abnormal ear physiology1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0031704Abnormal ear physiology1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0031703Abnormal ear morphology1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0031703Abnormal ear morphology1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0031704Abnormal ear physiology1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0031704Abnormal ear physiology1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0031703Abnormal ear morphology1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0031703Abnormal ear morphology1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0031704Abnormal ear physiology1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0031704Abnormal ear physiology1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0031703Abnormal ear morphology1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0031703Abnormal ear morphology1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0031704Abnormal ear physiology1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0031704Abnormal ear physiology1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0031703Abnormal ear morphology1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0031703Abnormal ear morphology1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0031704Abnormal ear physiology1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0031704Abnormal ear physiology1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0031703Abnormal ear morphology1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0031703Abnormal ear morphology1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0031704Abnormal ear physiology1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0031704Abnormal ear physiology1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0031703Abnormal ear morphology1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0031703Abnormal ear morphology1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0031704Abnormal ear physiology1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0031704Abnormal ear physiology1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0031703Abnormal ear morphology1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0031703Abnormal ear morphology1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0031704Abnormal ear physiology1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0031704Abnormal ear physiology1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0031703Abnormal ear morphology1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0031703Abnormal ear morphology1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0031704Abnormal ear physiology1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0031704Abnormal ear physiology1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0031703Abnormal ear morphology1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0031703Abnormal ear morphology1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0031704Abnormal ear physiology1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0031704Abnormal ear physiology1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0031703Abnormal ear morphology1KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0031703Abnormal ear morphology1KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0031704Abnormal ear physiology1KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0031704Abnormal ear physiology1KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0031703Abnormal ear morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0031703Abnormal ear morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0031704Abnormal ear physiology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0031704Abnormal ear physiology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0031703Abnormal ear morphology1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0031703Abnormal ear morphology1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0031704Abnormal ear physiology1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0031704Abnormal ear physiology1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0031703Abnormal ear morphology1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0031703Abnormal ear morphology1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0031704Abnormal ear physiology1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0031704Abnormal ear physiology1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0031703Abnormal ear morphology1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0031703Abnormal ear morphology1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0031704Abnormal ear physiology1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0031704Abnormal ear physiology1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0031703Abnormal ear morphology1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0031703Abnormal ear morphology1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0031704Abnormal ear physiology1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0031704Abnormal ear physiology1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0031703Abnormal ear morphology1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0031703Abnormal ear morphology1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0031704Abnormal ear physiology1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0031704Abnormal ear physiology1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0031703Abnormal ear morphology1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0031703Abnormal ear morphology1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0031704Abnormal ear physiology1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0031704Abnormal ear physiology1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0031703Abnormal ear morphology1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0031703Abnormal ear morphology1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0031704Abnormal ear physiology1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0031704Abnormal ear physiology1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0031703Abnormal ear morphology1TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0031703Abnormal ear morphology1TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0031704Abnormal ear physiology1TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0031704Abnormal ear physiology1TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0031703Abnormal ear morphology1TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0031703Abnormal ear morphology1TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0031704Abnormal ear physiology1TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0031704Abnormal ear physiology1TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0031703Abnormal ear morphology1TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0031703Abnormal ear morphology1TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0031704Abnormal ear physiology1TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0031704Abnormal ear physiology1TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0000359Abnormality of the inner ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000359Abnormality of the inner ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000370Abnormality of the middle ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000370Abnormality of the middle ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000356Abnormality of the outer ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000356Abnormality of the outer ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0012780Neoplasm of the ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0012780Neoplasm of the ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0030766Ear pain2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0030766Ear pain2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0011389Functional abnormality of the inner ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0011389Functional abnormality of the inner ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000364Hearing abnormality2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000364Hearing abnormality2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000359Abnormality of the inner ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000359Abnormality of the inner ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000370Abnormality of the middle ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000370Abnormality of the middle ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000356Abnormality of the outer ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000356Abnormality of the outer ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0012780Neoplasm of the ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0012780Neoplasm of the ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0030766Ear pain2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0030766Ear pain2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000364Hearing abnormality2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000364Hearing abnormality2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000359Abnormality of the inner ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000359Abnormality of the inner ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000370Abnormality of the middle ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000370Abnormality of the middle ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000356Abnormality of the outer ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000356Abnormality of the outer ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0012780Neoplasm of the ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0012780Neoplasm of the ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0030766Ear pain2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0030766Ear pain2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000364Hearing abnormality2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000364Hearing abnormality2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000359Abnormality of the inner ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0000359Abnormality of the inner ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0000370Abnormality of the middle ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0000370Abnormality of the middle ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0000356Abnormality of the outer ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0000356Abnormality of the outer ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0012780Neoplasm of the ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0012780Neoplasm of the ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0030766Ear pain2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0030766Ear pain2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0000364Hearing abnormality2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14022847609030
HP:0000598HP:0000364Hearing abnormality2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM14052847609030
HP:0000598HP:0000359Abnormality of the inner ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0000359Abnormality of the inner ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0000370Abnormality of the middle ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0000370Abnormality of the middle ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0000356Abnormality of the outer ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0000356Abnormality of the outer ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0012780Neoplasm of the ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0012780Neoplasm of the ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0030766Ear pain2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0030766Ear pain2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0011389Functional abnormality of the inner ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0011389Functional abnormality of the inner ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0000364Hearing abnormality2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000598HP:0000364Hearing abnormality2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000598HP:0000359Abnormality of the inner ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0000359Abnormality of the inner ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0000370Abnormality of the middle ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0000370Abnormality of the middle ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0000356Abnormality of the outer ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0000356Abnormality of the outer ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0012780Neoplasm of the ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0012780Neoplasm of the ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0030766Ear pain2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0030766Ear pain2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0011389Functional abnormality of the inner ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0011389Functional abnormality of the inner ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0000364Hearing abnormality2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140216817601755
HP:0000598HP:0000364Hearing abnormality2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM140716817601755
HP:0000598HP:0000359Abnormality of the inner ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0000359Abnormality of the inner ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0000370Abnormality of the middle ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0000370Abnormality of the middle ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0000356Abnormality of the outer ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0000356Abnormality of the outer ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0012780Neoplasm of the ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0012780Neoplasm of the ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0030766Ear pain2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0030766Ear pain2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0011389Functional abnormality of the inner ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0011389Functional abnormality of the inner ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0000364Hearing abnormality2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM15644195138079
HP:0000598HP:0000364Hearing abnormality2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM16244195138079
HP:0000598HP:0000359Abnormality of the inner ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0000359Abnormality of the inner ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0000370Abnormality of the middle ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0000370Abnormality of the middle ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0000356Abnormality of the outer ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0000356Abnormality of the outer ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0012780Neoplasm of the ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0012780Neoplasm of the ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0030766Ear pain2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0030766Ear pain2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0011389Functional abnormality of the inner ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0011389Functional abnormality of the inner ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0000364Hearing abnormality2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12094892607474
HP:0000598HP:0000364Hearing abnormality2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12314892607474
HP:0000598HP:0000359Abnormality of the inner ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0000359Abnormality of the inner ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0000370Abnormality of the middle ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0000370Abnormality of the middle ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0000356Abnormality of the outer ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0000356Abnormality of the outer ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0012780Neoplasm of the ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0012780Neoplasm of the ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0030766Ear pain2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0030766Ear pain2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0011389Functional abnormality of the inner ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0011389Functional abnormality of the inner ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0000364Hearing abnormality2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11296081176730
HP:0000598HP:0000364Hearing abnormality2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11546081176730
HP:0000598HP:0000359Abnormality of the inner ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0000359Abnormality of the inner ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0000370Abnormality of the middle ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0000370Abnormality of the middle ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0000356Abnormality of the outer ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0000356Abnormality of the outer ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0012780Neoplasm of the ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0012780Neoplasm of the ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0030766Ear pain2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0030766Ear pain2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0011389Functional abnormality of the inner ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0011389Functional abnormality of the inner ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0000364Hearing abnormality2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13016257600937
HP:0000598HP:0000364Hearing abnormality2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13226257600937
HP:0000598HP:0000359Abnormality of the inner ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0000359Abnormality of the inner ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0000370Abnormality of the middle ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0000370Abnormality of the middle ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0000356Abnormality of the outer ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0000356Abnormality of the outer ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0012780Neoplasm of the ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0012780Neoplasm of the ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0030766Ear pain2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0030766Ear pain2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0011389Functional abnormality of the inner ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0011389Functional abnormality of the inner ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0000364Hearing abnormality2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM114356294607542
HP:0000598HP:0000364Hearing abnormality2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM115356294607542
HP:0000598HP:0000359Abnormality of the inner ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0000359Abnormality of the inner ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0000370Abnormality of the middle ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0000370Abnormality of the middle ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0000356Abnormality of the outer ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0000356Abnormality of the outer ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0012780Neoplasm of the ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0012780Neoplasm of the ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0030766Ear pain2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0030766Ear pain2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0011389Functional abnormality of the inner ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0011389Functional abnormality of the inner ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0000364Hearing abnormality2KIT CL E G H3815172800Partial albinism172800C0080024OMIM114906342164920
HP:0000598HP:0000364Hearing abnormality2KIT CL E G H3815172800Partial albinism172800C0080024OMIM117356342164920
HP:0000598HP:0000359Abnormality of the inner ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0000359Abnormality of the inner ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0000370Abnormality of the middle ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0000370Abnormality of the middle ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0000356Abnormality of the outer ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0000356Abnormality of the outer ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0012780Neoplasm of the ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0012780Neoplasm of the ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0030766Ear pain2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0030766Ear pain2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0011389Functional abnormality of the inner ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0011389Functional abnormality of the inner ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0000364Hearing abnormality2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000598HP:0000364Hearing abnormality2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000598HP:0000359Abnormality of the inner ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0000359Abnormality of the inner ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0000370Abnormality of the middle ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0000370Abnormality of the middle ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0000356Abnormality of the outer ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0000356Abnormality of the outer ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0012780Neoplasm of the ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0012780Neoplasm of the ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0030766Ear pain2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0030766Ear pain2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0011389Functional abnormality of the inner ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0011389Functional abnormality of the inner ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0000364Hearing abnormality2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM14447573160720
HP:0000598HP:0000364Hearing abnormality2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM15337573160720
HP:0000598HP:0000359Abnormality of the inner ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0000359Abnormality of the inner ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0000370Abnormality of the middle ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0000370Abnormality of the middle ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0000356Abnormality of the outer ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0000356Abnormality of the outer ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0012780Neoplasm of the ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0012780Neoplasm of the ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0030766Ear pain2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0030766Ear pain2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0011389Functional abnormality of the inner ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0011389Functional abnormality of the inner ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0000364Hearing abnormality2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM11999706600644
HP:0000598HP:0000364Hearing abnormality2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12079706600644
HP:0000598HP:0000359Abnormality of the inner ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0000359Abnormality of the inner ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0000370Abnormality of the middle ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0000370Abnormality of the middle ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0000356Abnormality of the outer ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0000356Abnormality of the outer ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0012780Neoplasm of the ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0012780Neoplasm of the ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0030766Ear pain2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0030766Ear pain2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0011389Functional abnormality of the inner ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0011389Functional abnormality of the inner ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0000364Hearing abnormality2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000598HP:0000364Hearing abnormality2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000598HP:0000359Abnormality of the inner ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0000359Abnormality of the inner ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0000370Abnormality of the middle ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0000370Abnormality of the middle ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0000356Abnormality of the outer ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0000356Abnormality of the outer ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0012780Neoplasm of the ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0012780Neoplasm of the ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0030766Ear pain2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0030766Ear pain2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0011389Functional abnormality of the inner ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0011389Functional abnormality of the inner ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0000364Hearing abnormality2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11026107600733
HP:0000598HP:0000364Hearing abnormality2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11186107600733
HP:0000598HP:0000359Abnormality of the inner ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0000359Abnormality of the inner ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0000370Abnormality of the middle ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0000370Abnormality of the middle ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0000356Abnormality of the outer ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0000356Abnormality of the outer ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0012780Neoplasm of the ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0012780Neoplasm of the ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0030766Ear pain2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0030766Ear pain2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0011389Functional abnormality of the inner ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0011389Functional abnormality of the inner ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0000364Hearing abnormality2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000598HP:0000364Hearing abnormality2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000598HP:0000359Abnormality of the inner ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0000359Abnormality of the inner ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0000370Abnormality of the middle ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0000370Abnormality of the middle ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0000356Abnormality of the outer ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0000356Abnormality of the outer ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0012780Neoplasm of the ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0012780Neoplasm of the ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0030766Ear pain2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0030766Ear pain2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0011389Functional abnormality of the inner ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0011389Functional abnormality of the inner ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0000364Hearing abnormality2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17111094602150
HP:0000598HP:0000364Hearing abnormality2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM17611094602150
HP:0000598HP:0000359Abnormality of the inner ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0000359Abnormality of the inner ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0000370Abnormality of the middle ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0000370Abnormality of the middle ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0000356Abnormality of the outer ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0000356Abnormality of the outer ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0012780Neoplasm of the ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0012780Neoplasm of the ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0030766Ear pain2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0030766Ear pain2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0011389Functional abnormality of the inner ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0011389Functional abnormality of the inner ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0000364Hearing abnormality2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM172111592602054
HP:0000598HP:0000364Hearing abnormality2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM180411592602054
HP:0000598HP:0000359Abnormality of the inner ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0000359Abnormality of the inner ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0000370Abnormality of the middle ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0000370Abnormality of the middle ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0000356Abnormality of the outer ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0000356Abnormality of the outer ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0012780Neoplasm of the ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0012780Neoplasm of the ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0030766Ear pain2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0030766Ear pain2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0011389Functional abnormality of the inner ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0011389Functional abnormality of the inner ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0000364Hearing abnormality2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110411946191043
HP:0000598HP:0000364Hearing abnormality2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM110711946191043
HP:0000598HP:0000359Abnormality of the inner ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0000359Abnormality of the inner ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0000370Abnormality of the middle ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0000370Abnormality of the middle ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0000356Abnormality of the outer ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0000356Abnormality of the outer ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0012780Neoplasm of the ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0012780Neoplasm of the ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0030766Ear pain2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0030766Ear pain2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0011389Functional abnormality of the inner ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0011389Functional abnormality of the inner ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0000364Hearing abnormality2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM114111950600692
HP:0000598HP:0000364Hearing abnormality2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM116711950600692
HP:0000598HP:0000359Abnormality of the inner ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0000359Abnormality of the inner ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0000370Abnormality of the middle ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0000370Abnormality of the middle ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0000356Abnormality of the outer ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0000356Abnormality of the outer ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0012780Neoplasm of the ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0012780Neoplasm of the ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0030766Ear pain2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0030766Ear pain2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0011389Functional abnormality of the inner ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0011389Functional abnormality of the inner ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0000364Hearing abnormality2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM123412011190990
HP:0000598HP:0000364Hearing abnormality2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM124212011190990
HP:0000598HP:0009893Telangiectasia of the ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0009893Telangiectasia of the ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040099Abnormality of the round window3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040099Abnormality of the round window3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040100Abnormality of the vestibular window3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040100Abnormality of the vestibular window3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0011390Morphological abnormality of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0011390Morphological abnormality of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040096Neoplasm of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040096Neoplasm of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040115Abnormality of the Eustachian tube3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040115Abnormality of the Eustachian tube3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040090Abnormality of the tympanic membrane3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040090Abnormality of the tympanic membrane3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0011452Functional abnormality of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0011452Functional abnormality of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040262Glue ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040262Glue ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008609Morphological abnormality of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008609Morphological abnormality of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0100799Neoplasm of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0100799Neoplasm of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000388Otitis media3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000388Otitis media3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040268Recurrent infections of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040268Recurrent infections of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000357Abnormal location of ears3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000357Abnormal location of ears3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:3000022Abnormality of cartilage of external ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:3000022Abnormality of cartilage of external ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000372Abnormality of the auditory canal3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000372Abnormality of the auditory canal3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000377Abnormality of the pinna3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000377Abnormality of the pinna3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040111Bilateral external ear deformity3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040111Bilateral external ear deformity3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008572External ear malformation3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008572External ear malformation3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0400002Extra concha fold3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0400002Extra concha fold3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008608Hypertrophic auricular cartilage3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008608Hypertrophic auricular cartilage3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0040095Neoplasm of the outer ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0040095Neoplasm of the outer ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0100687Polyotia3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0100687Polyotia3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0008605Unilateral external ear deformity3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0008605Unilateral external ear deformity3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000407Sensorineural hearing impairment3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000407Sensorineural hearing impairment3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0001751Vestibular dysfunction3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0001751Vestibular dysfunction3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0001963Abnormal speech discrimination3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0001963Abnormal speech discrimination3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000365Hearing impairment3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000365Hearing impairment3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0000360Tinnitus3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1112559600509
HP:0000598HP:0000360Tinnitus3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1125359600509
HP:0000598HP:0009893Telangiectasia of the ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0009893Telangiectasia of the ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040099Abnormality of the round window3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040099Abnormality of the round window3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040262Glue ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040262Glue ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000388Otitis media3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000388Otitis media3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000357Abnormal location of ears3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000357Abnormal location of ears3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000377Abnormality of the pinna3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000377Abnormality of the pinna3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040111Bilateral external ear deformity3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040111Bilateral external ear deformity3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008572External ear malformation3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008572External ear malformation3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0400002Extra concha fold3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0400002Extra concha fold3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0100687Polyotia3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0100687Polyotia3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0008605Unilateral external ear deformity3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0008605Unilateral external ear deformity3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0001751Vestibular dysfunction3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0001751Vestibular dysfunction3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0001963Abnormal speech discrimination3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0001963Abnormal speech discrimination3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000365Hearing impairment3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000365Hearing impairment3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0000360Tinnitus3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14112845600594
HP:0000598HP:0000360Tinnitus3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14172845600594
HP:0000598HP:0009893Telangiectasia of the ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0009893Telangiectasia of the ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040099Abnormality of the round window3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040099Abnormality of the round window3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040262Glue ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040262Glue ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000388Otitis media3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000388Otitis media3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000357Abnormal location of ears3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000357Abnormal location of ears3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000377Abnormality of the pinna3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000377Abnormality of the pinna3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040111Bilateral external ear deformity3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040111Bilateral external ear deformity3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008572External ear malformation3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008572External ear malformation3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0400002Extra concha fold3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0400002Extra concha fold3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0100687Polyotia3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0100687Polyotia3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0008605Unilateral external ear deformity3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0008605Unilateral external ear deformity3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0001751Vestibular dysfunction3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0001751Vestibular dysfunction3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0001963Abnormal speech discrimination3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0001963Abnormal speech discrimination3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000365Hearing impairment3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000365Hearing impairment3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13412846601279
HP:0000598HP:0000360Tinnitus3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13382846601279
HP:0000598HP:0000360Tinnitus3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM1