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 mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000598Abnormality of the ear0DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000598Abnormality of the ear0DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000598Abnormality of the ear0DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000598Abnormality of the ear0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000598Abnormality of the ear0ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000598Abnormality of the ear0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000598Abnormality of the ear0HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000598Abnormality of the ear0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000598Abnormality of the ear0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000598Abnormality of the ear0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000598Abnormality of the ear0KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000598Abnormality of the ear0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000598Abnormality of the ear0MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000598Abnormality of the ear0NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0000598Abnormality of the ear0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0000598Abnormality of the ear0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0000598Abnormality of the ear0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0000598Abnormality of the ear0SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0000598Abnormality of the ear0TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0000598Abnormality of the ear0TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0000598Abnormality of the ear0TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0000598Abnormality of the ear0TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0031703Abnormal ear morphology1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0031704Abnormal ear physiology1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0031703Abnormal ear morphology1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0031704Abnormal ear physiology1DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0031703Abnormal ear morphology1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0031704Abnormal ear physiology1DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0031703Abnormal ear morphology1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0031704Abnormal ear physiology1DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0031703Abnormal ear morphology1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0031704Abnormal ear physiology1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0031703Abnormal ear morphology1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0031704Abnormal ear physiology1ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0031703Abnormal ear morphology1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0031704Abnormal ear physiology1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0031703Abnormal ear morphology1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0031704Abnormal ear physiology1HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0031703Abnormal ear morphology1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0031704Abnormal ear physiology1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0031703Abnormal ear morphology1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0031704Abnormal ear physiology1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0031703Abnormal ear morphology1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0031704Abnormal ear physiology1KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0031703Abnormal ear morphology1KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0031704Abnormal ear physiology1KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0031703Abnormal ear morphology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0031704Abnormal ear physiology1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0031703Abnormal ear morphology1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0031704Abnormal ear physiology1MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0031703Abnormal ear morphology1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0031704Abnormal ear physiology1NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0031703Abnormal ear morphology1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0031704Abnormal ear physiology1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0031703Abnormal ear morphology1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0031704Abnormal ear physiology1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0031703Abnormal ear morphology1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0031704Abnormal ear physiology1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0031703Abnormal ear morphology1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0031704Abnormal ear physiology1SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0031703Abnormal ear morphology1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0031704Abnormal ear physiology1TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0031703Abnormal ear morphology1TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0031704Abnormal ear physiology1TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0031703Abnormal ear morphology1TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0031704Abnormal ear physiology1TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0031703Abnormal ear morphology1TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0031704Abnormal ear physiology1TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0000359Abnormality of the inner ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000370Abnormality of the middle ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000356Abnormality of the outer ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0012780Neoplasm of the ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0030766Ear pain2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0011389Functional abnormality of the inner ear2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000364Hearing abnormality2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000359Abnormality of the inner ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000370Abnormality of the middle ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000356Abnormality of the outer ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0012780Neoplasm of the ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0030766Ear pain2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000364Hearing abnormality2DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000359Abnormality of the inner ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000370Abnormality of the middle ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000356Abnormality of the outer ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0012780Neoplasm of the ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0030766Ear pain2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000364Hearing abnormality2DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000359Abnormality of the inner ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000370Abnormality of the middle ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000356Abnormality of the outer ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0012780Neoplasm of the ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0030766Ear pain2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0011389Functional abnormality of the inner ear2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000364Hearing abnormality2DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000359Abnormality of the inner ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000370Abnormality of the middle ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000356Abnormality of the outer ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0012780Neoplasm of the ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0030766Ear pain2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0011389Functional abnormality of the inner ear2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000364Hearing abnormality2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000359Abnormality of the inner ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000370Abnormality of the middle ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000356Abnormality of the outer ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0012780Neoplasm of the ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0030766Ear pain2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0011389Functional abnormality of the inner ear2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000364Hearing abnormality2ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000359Abnormality of the inner ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000370Abnormality of the middle ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000356Abnormality of the outer ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0012780Neoplasm of the ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0030766Ear pain2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0011389Functional abnormality of the inner ear2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000364Hearing abnormality2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000359Abnormality of the inner ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000370Abnormality of the middle ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000356Abnormality of the outer ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0012780Neoplasm of the ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0030766Ear pain2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0011389Functional abnormality of the inner ear2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000364Hearing abnormality2HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000359Abnormality of the inner ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000370Abnormality of the middle ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000356Abnormality of the outer ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0012780Neoplasm of the ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0030766Ear pain2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0011389Functional abnormality of the inner ear2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000364Hearing abnormality2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000359Abnormality of the inner ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000370Abnormality of the middle ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000356Abnormality of the outer ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0012780Neoplasm of the ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0030766Ear pain2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0011389Functional abnormality of the inner ear2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000364Hearing abnormality2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000359Abnormality of the inner ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000370Abnormality of the middle ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000356Abnormality of the outer ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0012780Neoplasm of the ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0030766Ear pain2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0011389Functional abnormality of the inner ear2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000364Hearing abnormality2KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000359Abnormality of the inner ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000370Abnormality of the middle ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000356Abnormality of the outer ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0012780Neoplasm of the ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0030766Ear pain2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0011389Functional abnormality of the inner ear2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000364Hearing abnormality2KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000359Abnormality of the inner ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000370Abnormality of the middle ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000356Abnormality of the outer ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0012780Neoplasm of the ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0030766Ear pain2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0011389Functional abnormality of the inner ear2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000364Hearing abnormality2MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000359Abnormality of the inner ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000370Abnormality of the middle ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000356Abnormality of the outer ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0012780Neoplasm of the ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0030766Ear pain2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0011389Functional abnormality of the inner ear2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000364Hearing abnormality2MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000359Abnormality of the inner ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0000370Abnormality of the middle ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0000356Abnormality of the outer ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0012780Neoplasm of the ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0030766Ear pain2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0011389Functional abnormality of the inner ear2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0000364Hearing abnormality2NECTIN1 CL E G H5818225060Cleft lip/palate-ectodermal dysplasia syndrome225060C2931488OMIM12089706600644
HP:0000598HP:0000359Abnormality of the inner ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0000370Abnormality of the middle ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0000356Abnormality of the outer ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0012780Neoplasm of the ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0030766Ear pain2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0011389Functional abnormality of the inner ear2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0000364Hearing abnormality2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM17435331605956
HP:0000598HP:0000359Abnormality of the inner ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0000370Abnormality of the middle ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0000356Abnormality of the outer ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0012780Neoplasm of the ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0030766Ear pain2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0011389Functional abnormality of the inner ear2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0000364Hearing abnormality2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11456107600733
HP:0000598HP:0000359Abnormality of the inner ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0000370Abnormality of the middle ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0000356Abnormality of the outer ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0012780Neoplasm of the ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0030766Ear pain2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0011389Functional abnormality of the inner ear2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0000364Hearing abnormality2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11889071173350
HP:0000598HP:0000359Abnormality of the inner ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0000370Abnormality of the middle ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0000356Abnormality of the outer ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0012780Neoplasm of the ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0030766Ear pain2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0011389Functional abnormality of the inner ear2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0000364Hearing abnormality2SNAI2 CL E G H6591172800Partial albinism172800C0080024OMIM18511094602150
HP:0000598HP:0000359Abnormality of the inner ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0000370Abnormality of the middle ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0000356Abnormality of the outer ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0012780Neoplasm of the ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0030766Ear pain2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0011389Functional abnormality of the inner ear2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0000364Hearing abnormality2TBX1 CL E G H6899192430Shprintzen syndrome192430C0220704OMIM197211592602054
HP:0000598HP:0000359Abnormality of the inner ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0000370Abnormality of the middle ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0000356Abnormality of the outer ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0012780Neoplasm of the ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0030766Ear pain2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0011389Functional abnormality of the inner ear2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0000364Hearing abnormality2TNNI2 CL E G H7136601680Distal arthrogryposis type 2B601680C1834523OMIM111311946191043
HP:0000598HP:0000359Abnormality of the inner ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0000370Abnormality of the middle ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0000356Abnormality of the outer ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0012780Neoplasm of the ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0030766Ear pain2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0011389Functional abnormality of the inner ear2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0000364Hearing abnormality2TNNT3 CL E G H7140601680Distal arthrogryposis type 2B601680C1834523OMIM119611950600692
HP:0000598HP:0000359Abnormality of the inner ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0000370Abnormality of the middle ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0000356Abnormality of the outer ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0008771Aplasia/Hypoplasia of the ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0012780Neoplasm of the ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0030766Ear pain2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0011389Functional abnormality of the inner ear2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0000364Hearing abnormality2TPM2 CL E G H7169601680Distal arthrogryposis type 2B601680C1834523OMIM128012011190990
HP:0000598HP:0009893Telangiectasia of the ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040099Abnormality of the round window3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040100Abnormality of the vestibular window3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0011390Morphological abnormality of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040096Neoplasm of the inner ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040115Abnormality of the Eustachian tube3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040090Abnormality of the tympanic membrane3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0011452Functional abnormality of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040262Glue ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008609Morphological abnormality of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0100799Neoplasm of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000388Otitis media3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040268Recurrent infections of the middle ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000357Abnormal location of ears3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:3000022Abnormality of cartilage of external ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000372Abnormality of the auditory canal3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000377Abnormality of the pinna3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040111Bilateral external ear deformity3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008572External ear malformation3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0400002Extra concha fold3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008608Hypertrophic auricular cartilage3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0040095Neoplasm of the outer ear3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0100687Polyotia3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0008605Unilateral external ear deformity3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000407Sensorineural hearing impairment3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0001751Vestibular dysfunction3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0001963Abnormal speech discrimination3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000365Hearing impairment3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0000360Tinnitus3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1156959600509
HP:0000598HP:0009893Telangiectasia of the ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040099Abnormality of the round window3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040262Glue ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000388Otitis media3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000357Abnormal location of ears3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000377Abnormality of the pinna3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040111Bilateral external ear deformity3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008572External ear malformation3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0400002Extra concha fold3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0100687Polyotia3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0008605Unilateral external ear deformity3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0001751Vestibular dysfunction3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0001963Abnormal speech discrimination3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000365Hearing impairment3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0000360Tinnitus3DGCR2 CL E G H9993192430Shprintzen syndrome192430C0220704OMIM14092845600594
HP:0000598HP:0009893Telangiectasia of the ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040099Abnormality of the round window3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040262Glue ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000388Otitis media3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000357Abnormal location of ears3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000377Abnormality of the pinna3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040111Bilateral external ear deformity3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008572External ear malformation3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0400002Extra concha fold3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0100687Polyotia3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0008605Unilateral external ear deformity3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0001751Vestibular dysfunction3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0001963Abnormal speech discrimination3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000365Hearing impairment3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0000360Tinnitus3DGCR6 CL E G H8214192430Shprintzen syndrome192430C0220704OMIM13362846601279
HP:0000598HP:0009893Telangiectasia of the ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040099Abnormality of the round window3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040100Abnormality of the vestibular window3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0011390Morphological abnormality of the inner ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040096Neoplasm of the inner ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040115Abnormality of the Eustachian tube3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040090Abnormality of the tympanic membrane3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0011452Functional abnormality of the middle ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040262Glue ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008609Morphological abnormality of the middle ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0100799Neoplasm of the middle ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000388Otitis media3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040268Recurrent infections of the middle ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000357Abnormal location of ears3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:3000022Abnormality of cartilage of external ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000372Abnormality of the auditory canal3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000377Abnormality of the pinna3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040111Bilateral external ear deformity3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008572External ear malformation3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0400002Extra concha fold3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008608Hypertrophic auricular cartilage3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0040095Neoplasm of the outer ear3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0100687Polyotia3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0008605Unilateral external ear deformity3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000407Sensorineural hearing impairment3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0001751Vestibular dysfunction3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0001963Abnormal speech discrimination3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000365Hearing impairment3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0000360Tinnitus3DGCR8 CL E G H54487192430Shprintzen syndrome192430C0220704OMIM13982847609030
HP:0000598HP:0009893Telangiectasia of the ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040099Abnormality of the round window3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040100Abnormality of the vestibular window3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0011390Morphological abnormality of the inner ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040096Neoplasm of the inner ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040115Abnormality of the Eustachian tube3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040090Abnormality of the tympanic membrane3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0011452Functional abnormality of the middle ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040262Glue ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008609Morphological abnormality of the middle ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0100799Neoplasm of the middle ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000388Otitis media3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040268Recurrent infections of the middle ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000357Abnormal location of ears3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:3000022Abnormality of cartilage of external ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000372Abnormality of the auditory canal3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000377Abnormality of the pinna3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040111Bilateral external ear deformity3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008572External ear malformation3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0400002Extra concha fold3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008608Hypertrophic auricular cartilage3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0040095Neoplasm of the outer ear3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0100687Polyotia3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0008605Unilateral external ear deformity3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000407Sensorineural hearing impairment3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0001751Vestibular dysfunction3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0001963Abnormal speech discrimination3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000365Hearing impairment3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0000360Tinnitus3ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000598HP:0009893Telangiectasia of the ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040099Abnormality of the round window3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040100Abnormality of the vestibular window3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0011390Morphological abnormality of the inner ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040096Neoplasm of the inner ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040115Abnormality of the Eustachian tube3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040090Abnormality of the tympanic membrane3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0011452Functional abnormality of the middle ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040262Glue ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008609Morphological abnormality of the middle ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0100799Neoplasm of the middle ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000388Otitis media3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040268Recurrent infections of the middle ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000357Abnormal location of ears3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:3000022Abnormality of cartilage of external ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000372Abnormality of the auditory canal3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000377Abnormality of the pinna3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040111Bilateral external ear deformity3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008572External ear malformation3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0400002Extra concha fold3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008608Hypertrophic auricular cartilage3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0040095Neoplasm of the outer ear3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0100687Polyotia3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0008605Unilateral external ear deformity3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000407Sensorineural hearing impairment3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0001751Vestibular dysfunction3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0001963Abnormal speech discrimination3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000365Hearing impairment3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0000360Tinnitus3ESS2 CL E G H8220192430Shprintzen syndrome192430C0220704OMIM139816817601755
HP:0000598HP:0009893Telangiectasia of the ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040099Abnormality of the round window3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040100Abnormality of the vestibular window3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0011390Morphological abnormality of the inner ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040096Neoplasm of the inner ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040115Abnormality of the Eustachian tube3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040090Abnormality of the tympanic membrane3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0011452Functional abnormality of the middle ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040262Glue ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008609Morphological abnormality of the middle ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0100799Neoplasm of the middle ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000388Otitis media3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040268Recurrent infections of the middle ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000357Abnormal location of ears3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:3000022Abnormality of cartilage of external ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000372Abnormality of the auditory canal3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000377Abnormality of the pinna3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040111Bilateral external ear deformity3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008572External ear malformation3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0400002Extra concha fold3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008608Hypertrophic auricular cartilage3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0040095Neoplasm of the outer ear3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0100687Polyotia3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0008605Unilateral external ear deformity3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000407Sensorineural hearing impairment3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0001751Vestibular dysfunction3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0001963Abnormal speech discrimination3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000365Hearing impairment3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0000360Tinnitus3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM17624195138079
HP:0000598HP:0009893Telangiectasia of the ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040099Abnormality of the round window3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040100Abnormality of the vestibular window3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0011390Morphological abnormality of the inner ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040096Neoplasm of the inner ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040115Abnormality of the Eustachian tube3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040090Abnormality of the tympanic membrane3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0011452Functional abnormality of the middle ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040262Glue ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008609Morphological abnormality of the middle ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0100799Neoplasm of the middle ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000388Otitis media3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040268Recurrent infections of the middle ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000357Abnormal location of ears3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:3000022Abnormality of cartilage of external ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000372Abnormality of the auditory canal3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000377Abnormality of the pinna3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040111Bilateral external ear deformity3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008572External ear malformation3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0400002Extra concha fold3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008608Hypertrophic auricular cartilage3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0040095Neoplasm of the outer ear3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0100687Polyotia3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0008605Unilateral external ear deformity3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000407Sensorineural hearing impairment3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0001751Vestibular dysfunction3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0001963Abnormal speech discrimination3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000365Hearing impairment3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0000360Tinnitus3HGD CL E G H3081203500Alkaptonuria203500C0002066OMIM12724892607474
HP:0000598HP:0009893Telangiectasia of the ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040099Abnormality of the round window3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040100Abnormality of the vestibular window3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0011390Morphological abnormality of the inner ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040096Neoplasm of the inner ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040115Abnormality of the Eustachian tube3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040090Abnormality of the tympanic membrane3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0011452Functional abnormality of the middle ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040262Glue ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008609Morphological abnormality of the middle ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0100799Neoplasm of the middle ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000388Otitis media3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040268Recurrent infections of the middle ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000357Abnormal location of ears3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:3000022Abnormality of cartilage of external ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000372Abnormality of the auditory canal3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000377Abnormality of the pinna3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040111Bilateral external ear deformity3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008572External ear malformation3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0400002Extra concha fold3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008608Hypertrophic auricular cartilage3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0040095Neoplasm of the outer ear3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0100687Polyotia3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0008605Unilateral external ear deformity3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000407Sensorineural hearing impairment3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0001751Vestibular dysfunction3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0001963Abnormal speech discrimination3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000365Hearing impairment3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0000360Tinnitus3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11686081176730
HP:0000598HP:0009893Telangiectasia of the ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040099Abnormality of the round window3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040100Abnormality of the vestibular window3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0011390Morphological abnormality of the inner ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040096Neoplasm of the inner ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040115Abnormality of the Eustachian tube3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040090Abnormality of the tympanic membrane3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0011452Functional abnormality of the middle ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040262Glue ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008609Morphological abnormality of the middle ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0100799Neoplasm of the middle ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000388Otitis media3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040268Recurrent infections of the middle ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000357Abnormal location of ears3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:3000022Abnormality of cartilage of external ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000372Abnormality of the auditory canal3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000377Abnormality of the pinna3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040111Bilateral external ear deformity3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008572External ear malformation3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0400002Extra concha fold3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008608Hypertrophic auricular cartilage3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0040095Neoplasm of the outer ear3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0100687Polyotia3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0008605Unilateral external ear deformity3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000407Sensorineural hearing impairment3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0001751Vestibular dysfunction3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0001963Abnormal speech discrimination3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000365Hearing impairment3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0000360Tinnitus3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM13806257600937
HP:0000598HP:0009893Telangiectasia of the ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040099Abnormality of the round window3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040100Abnormality of the vestibular window3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0011390Morphological abnormality of the inner ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040096Neoplasm of the inner ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040115Abnormality of the Eustachian tube3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040090Abnormality of the tympanic membrane3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0011452Functional abnormality of the middle ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040262Glue ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008609Morphological abnormality of the middle ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0100799Neoplasm of the middle ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000388Otitis media3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040268Recurrent infections of the middle ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000357Abnormal location of ears3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:3000022Abnormality of cartilage of external ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000372Abnormality of the auditory canal3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000377Abnormality of the pinna3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040111Bilateral external ear deformity3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008572External ear malformation3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0400002Extra concha fold3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008608Hypertrophic auricular cartilage3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0040095Neoplasm of the outer ear3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0100687Polyotia3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0008605Unilateral external ear deformity3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000407Sensorineural hearing impairment3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0001751Vestibular dysfunction3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0001963Abnormal speech discrimination3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000365Hearing impairment3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0000360Tinnitus3KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM117686294607542
HP:0000598HP:0009893Telangiectasia of the ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040099Abnormality of the round window3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040100Abnormality of the vestibular window3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0011390Morphological abnormality of the inner ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040096Neoplasm of the inner ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040115Abnormality of the Eustachian tube3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040090Abnormality of the tympanic membrane3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0011452Functional abnormality of the middle ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040262Glue ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008609Morphological abnormality of the middle ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0100799Neoplasm of the middle ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000388Otitis media3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040268Recurrent infections of the middle ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000357Abnormal location of ears3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:3000022Abnormality of cartilage of external ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000372Abnormality of the auditory canal3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000377Abnormality of the pinna3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040111Bilateral external ear deformity3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008572External ear malformation3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0400002Extra concha fold3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008608Hypertrophic auricular cartilage3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0040095Neoplasm of the outer ear3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0100687Polyotia3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0008605Unilateral external ear deformity3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000407Sensorineural hearing impairment3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0001751Vestibular dysfunction3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0001963Abnormal speech discrimination3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000365Hearing impairment3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0000360Tinnitus3KIT CL E G H3815172800Partial albinism172800C0080024OMIM121376342164920
HP:0000598HP:0009893Telangiectasia of the ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040099Abnormality of the round window3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040100Abnormality of the vestibular window3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0011390Morphological abnormality of the inner ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040096Neoplasm of the inner ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040115Abnormality of the Eustachian tube3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040090Abnormality of the tympanic membrane3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0011452Functional abnormality of the middle ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040262Glue ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008609Morphological abnormality of the middle ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0100799Neoplasm of the middle ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000388Otitis media3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040268Recurrent infections of the middle ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000357Abnormal location of ears3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:3000022Abnormality of cartilage of external ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000372Abnormality of the auditory canal3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000377Abnormality of the pinna3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040111Bilateral external ear deformity3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008572External ear malformation3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0400002Extra concha fold3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008608Hypertrophic auricular cartilage3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0040095Neoplasm of the outer ear3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0100687Polyotia3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0008605Unilateral external ear deformity3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000407Sensorineural hearing impairment3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0001751Vestibular dysfunction3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0001963Abnormal speech discrimination3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000365Hearing impairment3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0000360Tinnitus3MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000598HP:0009893Telangiectasia of the ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040099Abnormality of the round window3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040100Abnormality of the vestibular window3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0011390Morphological abnormality of the inner ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008774Aplasia/Hypoplasia of the inner ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040096Neoplasm of the inner ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040115Abnormality of the Eustachian tube3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040090Abnormality of the tympanic membrane3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0011452Functional abnormality of the middle ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040262Glue ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008609Morphological abnormality of the middle ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008773Aplasia/Hypoplasia of the middle ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0100799Neoplasm of the middle ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000388Otitis media3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040268Recurrent infections of the middle ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000357Abnormal location of ears3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:3000022Abnormality of cartilage of external ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000372Abnormality of the auditory canal3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000377Abnormality of the pinna3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008772Aplasia/Hypoplasia of the external ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040111Bilateral external ear deformity3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008572External ear malformation3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0400002Extra concha fold3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008608Hypertrophic auricular cartilage3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0040095Neoplasm of the outer ear3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0100687Polyotia3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0008605Unilateral external ear deformity3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0000407Sensorineural hearing impairment3MYH3 CL E G H4621601680Distal arthrogryposis type 2B601680C1834523OMIM16417573160720
HP:0000598HP:0001751Vestibular dysfunction3MYH3 CL