Hearing Loss Diseases

ID# ConceptID DiseaseMIM Disease SourceName SourceID HPO Manifestations Genes Variants ClinVar Genes 1 C3553597 NCBI 614739 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome NCBI curation 20 1 2 SERAC1 2 C0001080 NCBI 100800 Achondroplasia GeneTests 2789 51 1 5 FGFR3 3 C0001080 NCBI 100800 Achondroplasia Office of Rare Diseases 8173 51 1 5 FGFR3 4 C0001080 NCBI 100800 Achondroplasia SNOMED CT 86268005 51 1 5 FGFR3 5 CN007581 NCBI Adult onset sensorineural hearing impairment Human Phenotype Ontology HP:0008615 0 0 0 6 C2676230 NCBI 612448 AGE-RELATED HEARING IMPAIRMENT 1 OMIM 612448 0 0 0 7 C2751814 NCBI 612976 AGE-RELATED HEARING IMPAIRMENT 2 OMIM 612976 0 0 0 8 C1845068 NCBI 300700 Albinism deafness syndrome Office of Rare Diseases 589 13 0 0 9 C1845069 NCBI 300650 Albinism ocular late onset sensorineural deafness Office of Rare Diseases 592 12 0 0 10 C1863198 NCBI 103470 Albinism, ocular, with sensorineural deafness NCBI curation 14 0 0 11 C1567741 NCBI Alport syndrome ARUP 0 0 0 12 C1567741 NCBI Alport syndrome Office of Rare Diseases 5785 0 0 0 13 C1567741 NCBI Alport syndrome Genetics Home Reference alport-syndrome 0 0 0 14 C1567742 NCBI 301050 Alport syndrome, X-linked recessive NCBI curation 18 2 555 - COL4A5 15 C0268425 NCBI 203800 Alstrom syndrome Office of Rare Diseases 5787 83 1 6 ALMS1 16 C0268425 NCBI 203800 Alstrom syndrome SNOMED CT 63702009 83 1 6 ALMS1 17 CN184091 NCBI Aminoglycoside response NCBI curation 0 0 0 18 C1838854 NCBI 580000 Aminoglycoside-induced deafness NCBI curation 1 2 6 - MT-RNR1 19 CN167701 NCBI Aminoglycoside-induced hearing loss Human Phenotype Ontology HP:0011975 0 0 0 20 C1864939 NCBI 610001 Arthrogryposis multiplex with deafness, inguinal hernias, and early death Office of Rare Diseases 9946 0 0 0 21 C1862471 NCBI 108200 Arthrogryposis-like hand anomaly and sensorineural deafness Office of Rare Diseases 784 8 0 0 22 C0796028 NCBI 301835 Arts syndrome Office of Rare Diseases 8756 36 1 5 PRPS1 23 C0796028 NCBI 301835 Arts syndrome Genetics Home Reference arts-syndrome 36 1 5 PRPS1 24 CN225195 NCBI 616192 Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus NCBI curation 0 1 1 DNAJC3 25 C1859645 NCBI 208750 Ataxia, deafness and cardiomyopathy NCBI curation 6 0 0 26 C1862395 NCBI 108760 Atresia of external auditory canal and conduction deafness NCBI curation 6 0 0 27 C1837014 NCBI 607554 Atrial fibrillation, familial, 3 NCBI curation 5 1 5 KCNQ1 28 CN230735 NCBI Audiologic phenotype and hearing loss Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center 0 0 0 29 CN043167 NCBI Auditory neuropathy, autosomal recessive, 1 NCBI curation 0 0 0 30 C1275089 NCBI 242150 Autosomal recessive keratitis-ichthyosis-deafness syndrome SNOMED CT 403780007 14 0 0 31 CN029264 NCBI 180500 Axenfeld-Rieger syndrome type 1 Office of Rare Diseases 10281 34 1 6 PITX2 32 C2678503 NCBI 602482 Axenfeld-Rieger syndrome type 3 Office of Rare Diseases 9626 16 1 6 FOXC1 33 C3281235 NCBI 614583 Baraitser-Winter Syndrome 2 NCBI curation 13 1 7 ACTG1 34 C1865270 NCBI 602522 Bartter syndrome type 4 Office of Rare Diseases 10508 29 1 6 BSND 35 C0342870 NCBI 261515 Bifunctional peroxisomal enzyme deficiency SNOMED CT 238068007 56 1 5 HSD17B4 36 CN007494 NCBI Bilateral conductive hearing impairment Human Phenotype Ontology HP:0008513 0 0 0 37 CN007584 NCBI Bilateral sensorineural hearing impairment International Standards For Cytogenomic Arrays Consortium (ISCA) 0 0 0 38 CN007584 NCBI Bilateral sensorineural hearing impairment Human Phenotype Ontology HP:0008619 0 0 0 39 CN231094 NCBI Bilateral, progressive nonsyndromic sensorineural hearing loss Deafness research group, Biosystems & Integrative Sciences Institute,University of Lisbon 0 0 0 40 C0220754 NCBI 253260 Biotinidase deficiency ARUP 40 0 0 41 C0220754 NCBI 253260 Biotinidase deficiency SNOMED CT 8808004 40 0 0 42 C0220754 NCBI 253260 Biotinidase deficiency Office of Rare Diseases 894 40 0 0 43 C2676285 NCBI 612394 Bone fragility with contractures, arterial rupture, and deafness NCBI curation 30 1 1 PLOD3 44 C1865182 NCBI 602561 Brachydactyly, intraventricular septal defect, and deafness NCBI curation 0 0 0 45 C3150890 NCBI 613627 BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY, PTOSIS, HEARING LOSS, AND MENTAL RETARDATION OMIM 613627 17 0 0 46 C1836673 NCBI 609166 Branchiogenic-deafness syndrome NCBI curation 25 0 0 47 C1865143 NCBI 602588 Branchiootic syndrome Office of Rare Diseases 10148 14 1 2 EYA1 48 C1842124 NCBI 608389 Branchiootic syndrome 3 NCBI curation 4 1 4 SIX1 49 CN043574 NCBI Branchiootorenal Spectrum Disorders GeneTests 2045 0 0 0 50 C1970479 NCBI 610896 Branchiootorenal syndrome 2 NCBI curation 6 1 4 SIX5 51 C1864852 NCBI 610474 Camptodactyly, tall stature, and hearing loss syndrome Office of Rare Diseases 10012 14 1 2 FGFR3 52 CN069290 NCBI Cardiomyopathy and Deafness GeneTests 253393 0 1 1 MT-TK 53 CN036924 NCBI Cardiomyopathy and deafness due to tRNA lysine gene mutation Office of Rare Diseases 1108 0 0 0 54 C0796123 NCBI 212710 Cataract ataxia deafness Office of Rare Diseases 1141 20 0 0 55 C1861826 NCBI 116400 Cataract, nuclear total NCBI curation 3 1 1 WFS1 56 C1832812 NCBI 601088 Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation NCBI curation 10 1 7 MAF 57 CN221141 NCBI 616007 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NCBI curation 0 1 1 IARS2 58 C1859304 NCBI 212850 Cerebellar ataxia and neurosensory deafness NCBI curation 4 0 0 59 C1832466 NCBI 601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Office of Rare Diseases 1188 14 1 1 ATP1A3 60 C1858804 NCBI 604121 Cerebellar ataxia, deafness, and narcolepsy NCBI curation 15 1 3 DNMT1 61 CN035937 NCBI Charcot-Marie-Tooth disease deafness recessive type Office of Rare Diseases 1241 0 0 0 62 C1839566 NCBI 311070 Charcot-Marie-Tooth disease, X-linked recessive, type 5 NCBI curation 41 1 5 PRPS1 63 C0265354 NCBI 214800 CHARGE association Office of Rare Diseases 29 132 2 50 CHD7 SEMA3E 64 C0265354 NCBI 214800 CHARGE association SNOMED CT 47535005 132 2 50 CHD7 SEMA3E 65 CN167202 NCBI Childhood onset sensorineural hearing impairment Human Phenotype Ontology HP:0011474 0 0 0 66 C1858695 NCBI 604213 Chudley-McCullough syndrome NCBI curation 15 1 4 GPSM2 67 C1836120 NCBI 609466 Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss Office of Rare Diseases 10063 0 0 0 68 C0265252 NCBI 303600 Coffin-Lowry syndrome SNOMED CT 15182000 94 1 9 RPS6KA3 69 C0265252 NCBI 303600 Coffin-Lowry syndrome Office of Rare Diseases 6123 94 1 9 RPS6KA3 70 C0265252 NCBI 303600 Coffin-Lowry syndrome Genetics Home Reference coffin-lowry-syndrome 94 1 9 RPS6KA3 71 CN000378 NCBI Conductive hearing impairment International Standards For Cytogenomic Arrays Consortium (ISCA) 0 0 0 72 CN000378 NCBI Conductive hearing impairment Human Phenotype Ontology HP:0000405 0 0 0 73 C1849333 NCBI 268315 Cone-rod dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction NCBI curation 0 0 0 74 C3280965 NCBI 614482 Congenital cataracts, hearing loss, and neurodegeneration NCBI curation 12 1 1 SLC33A1 75 CN007559 NCBI Congenital conductive hearing impairment Human Phenotype Ontology HP:0008591 0 0 0 76 C0339789 NCBI Congenital deafness Office of Rare Diseases 6159 0 0 0 77 C0339789 NCBI Congenital deafness SNOMED CT 95828007 0 0 0 78 CN007507 NCBI Congenital sensorineural hearing impairment Human Phenotype Ontology HP:0008527 0 0 0 79 C1852556 NCBI 121450 Corneal degeneration, ribbonlike, with deafness NCBI curation 4 0 0 80 C1857572 NCBI 217400 Corneal dystrophy and perceptive deafness Office of Rare Diseases 1529 7 1 4 SLC4A11 81 C1852543 NCBI 122430 Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation NCBI curation 28 0 0 82 C1852510 NCBI 122880 Craniofacial deafness hand syndrome Office of Rare Diseases 1571 18 1 1 PAX3 83 C2677099 NCBI 612247 Crouzon syndrome with acanthosis nigricans NCBI curation 26 1 1 FGFR3 84 C1854061 NCBI 605685 Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness NCBI curation 14 0 0 85 C1857340 NCBI 221320 Deafness conductive ptosis skeletal anomalies Office of Rare Diseases 305 17 0 0 86 C1856186 NCBI 234580 Deafness enamel hypoplasia nail defects Office of Rare Diseases 1687 29 0 0 87 C1857333 NCBI 221740 Deafness oligodontia syndrome Office of Rare Diseases 1698 7 0 0 88 C1852279 NCBI 125050 Deafness with anhidrotic ectodermal dysplasia NCBI curation 3 0 0 89 C1853144 NCBI 610706 Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Office of Rare Diseases 10707 26 1 12 FGF3 90 C1852282 NCBI 124900 Deafness, autosomal dominant 1 NCBI curation 5 0 0 91 C1832476 NCBI 601316 Deafness, autosomal dominant 10 NCBI curation 2 1 1 EYA4 92 C1832475 NCBI 601317 Deafness, autosomal dominant 11 NCBI curation 3 1 3 MYO7A 93 C1832187 NCBI 601543 Deafness, autosomal dominant 12 NCBI curation 2 1 10 TECTA 94 C1866095 NCBI 601868 Deafness, autosomal dominant 13 NCBI curation 2 1 2 COL11A2 95 C1865366 NCBI 602459 Deafness, autosomal dominant 15 NCBI curation 2 1 4 POU4F3 96 C1858916 NCBI 603964 Deafness, autosomal dominant 16 NCBI curation 2 0 0 97 C1853760 NCBI 606012 Deafness, autosomal dominant 18 NCBI curation 0 0 0 98 C1858172 NCBI 604717 Deafness, autosomal dominant 20 NCBI curation 4 1 8 ACTG1 99 C1846922 NCBI 607017 Deafness, autosomal dominant 21 NCBI curation 0 0 0 100 C1853441 NCBI 606346 Deafness, autosomal dominant 22 NCBI curation 2 1 4 MYO6 101 C1854594 NCBI 605192 Deafness, autosomal dominant 23 NCBI curation 3 1 1 SIX1 102 C1853451 NCBI 606282 Deafness, autosomal dominant 24 NCBI curation 0 0 0 103 C1854158 NCBI 605583 Deafness, autosomal dominant 25 NCBI curation 2 1 1 SLC17A8 104 CN029720 NCBI 612431 Deafness, autosomal dominant 27 NCBI curation 0 0 0 105 C1837640 NCBI 608641 Deafness, autosomal dominant 28 NCBI curation 3 1 2 GRHL2 106 C2675236 NCBI 612644 Deafness, autosomal dominant 2b NCBI curation 2 1 2 GJB3 107 C1847972 NCBI 606451 Deafness, autosomal dominant 30 NCBI curation 0 0 0 108 C1837617 NCBI 608645 Deafness, autosomal dominant 31 NCBI curation 0 0 0 109 C1414002 NCBI 614211 Deafness, autosomal dominant 33 NCBI curation 4 0 0 110 C1847626 NCBI 606705 Deafness, autosomal dominant 36 NCBI curation 2 1 3 TMC1 111 C1854146 NCBI 605594 Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 NCBI curation 5 0 0 112 C2675750 NCBI 601544 Deafness, autosomal dominant 3a NCBI curation 2 1 10 GJB2 113 C2675237 NCBI 612643 Deafness, autosomal dominant 3b NCBI curation 2 1 2 GJB6 114 C1833503 NCBI 600652 Deafness, autosomal dominant 4 NCBI curation 2 1 6 MYH14 115 CN230313 NCBI 616357 DEAFNESS, AUTOSOMAL DOMINANT 40 OMIM 616357 0 1 2 CRYM 116 C1842371 NCBI 608224 Deafness, autosomal dominant 41 NCBI curation 2 1 2 P2RX2 117 C1842108 NCBI 608394 Deafness, autosomal dominant 43 NCBI curation 0 0 0 118 C1843895 NCBI 607453 Deafness, autosomal dominant 44 NCBI curation 2 0 0 119 C1837609 NCBI 608652 Deafness, autosomal dominant 47 NCBI curation 0 0 0 120 C1842939 NCBI 607841 Deafness, autosomal dominant 48 NCBI curation 2 1 5 MYO1A 121 C1842136 NCBI 608372 Deafness, autosomal dominant 49 NCBI curation 4 0 0 122 C3281297 NCBI 614614 Deafness, autosomal dominant 4b NCBI curation 1 1 1 CEACAM16 123 C1832932 NCBI 600994 Deafness, autosomal dominant 5 NCBI curation 2 1 1 DFNA5 124 CN035509 NCBI 613074 Deafness, autosomal dominant 50 NCBI curation 3 1 2 MIR96 125 C3160736 NCBI 613558 Deafness, autosomal dominant 51 NCBI curation 2 0 0 126 C1843232 NCBI 607683 Deafness, autosomal dominant 52 NCBI curation 1 0 0 127 CN184652 NCBI 615649 Deafness, autosomal dominant 54 NCBI curation 0 0 0 128 CN184361 NCBI 615629 Deafness, autosomal dominant 56 NCBI curation 0 1 2 TNC 129 CN184654 NCBI 615654 Deafness, autosomal dominant 58 NCBI curation 0 0 0 130 C2675238 NCBI 612642 Deafness, autosomal dominant 59 NCBI curation 0 0 0 131 C3279948 NCBI 614152 Deafness, autosomal dominant 64 NCBI curation 3 1 1 DIABLO 132 CN220131 NCBI 616044 Deafness, autosomal dominant 65 NCBI curation 0 1 1 TBC1D24 133 CN230132 NCBI 616340 DEAFNESS, AUTOSOMAL DOMINANT 67 OMIM 616340 0 0 0 134 C1832379 NCBI 601412 Deafness, autosomal dominant 7 NCBI curation 2 0 0 135 C1832425 NCBI 601369 Deafness, autosomal dominant 9 NCBI curation 8 1 9 - 136 C1863659 NCBI 603622 Deafness, autosomal dominant nonsyndromic sensorineural 17 Office of Rare Diseases 9726 3 1 2 MYH9 137 C2931767 NCBI Deafness, autosomal dominant nonsyndromic sensorineural 22 Office of Rare Diseases 9167 0 0 0 138 C2931768 NCBI Deafness, autosomal dominant nonsyndromic sensorineural 23 Office of Rare Diseases 1708 0 0 0 139 C2931769 NCBI Deafness, autosomal dominant nonsyndromic sensorineural 24 Office of Rare Diseases 9166 0 0 0 140 C1864957 NCBI 609965 Deafness, autosomal dominant nonsyndromic sensorineural 53 Office of Rare Diseases 9934 0 0 0 141 C3148751 NCBI Deafness, autosomal dominant, with peripheral neuropathy NCBI curation 0 1 1 GJB3 142 C1846647 NCBI 607197 Deafness, autosomal recessive NCBI curation 0 1 2 GJB3 143 CN188273 NCBI 615837 Deafness, autosomal recessive 101 NCBI curation 0 1 1 GRXCR2 144 CN219004 NCBI 615974 Deafness, autosomal recessive 102 NCBI curation 0 1 1 EPS8 145 CN221349 NCBI 616042 Deafness, autosomal recessive 103 NCBI curation 0 1 1 CLIC5 146 C1832394 NCBI 601386 Deafness, autosomal recessive 12 NCBI curation 4 2 10 - CDH23 147 C1864199 NCBI 603098 Deafness, autosomal recessive 13 NCBI curation 0 0 0 148 C1863613 NCBI 603678 Deafness, autosomal recessive 14 NCBI curation 0 0 0 149 C1866094 NCBI 601869 Deafness, autosomal recessive 15 NCBI curation 3 1 6 GIPC3 150 C1863561 NCBI 603720 Deafness, autosomal recessive 16 NCBI curation 2 1 15 STRC 151 C1864276 NCBI 603010 Deafness, autosomal recessive 17 NCBI curation 0 0 0 152 C1865870 NCBI 602092 Deafness, autosomal recessive 18 NCBI curation 2 1 2 USH1C 153 C3554163 NCBI 614945 Deafness, autosomal recessive 18b NCBI curation 1 1 2 OTOG 154 C2673759 NCBI 220290 Deafness, autosomal recessive 1A NCBI curation 4 1 67 GJB2 155 C2675235 NCBI 612645 Deafness, autosomal recessive 1b NCBI curation 2 1 1 GJB6 156 C1838701 NCBI 600060 Deafness, autosomal recessive 2 NCBI curation 5 1 3 MYO7A 157 C1858840 NCBI 604060 Deafness, autosomal recessive 20 NCBI curation 1 0 0 158 C1863655 NCBI 603629 Deafness, autosomal recessive 21 NCBI curation 2 0 0 159 C1846896 NCBI 607039 Deafness, autosomal recessive 22 NCBI curation 2 1 6 OTOA 160 C1836027 NCBI 609533 Deafness, autosomal recessive 23 NCBI curation 4 2 4 - PCDH15 161 C1970239 NCBI 611022 Deafness, autosomal recessive 24 NCBI curation 3 1 3 RDX 162 C1414017 NCBI 613285 Deafness, autosomal recessive 25 NCBI curation 2 1 4 GRXCR1 163 C1854275 NCBI 605428 Deafness, autosomal recessive 26 NCBI curation 0 0 0 164 C1853941 NCBI 605818 Deafness, autosomal recessive 27 NCBI curation 0 0 0 165 C1853276 NCBI 609823 Deafness, autosomal recessive 28 NCBI curation 3 1 8 TRIOBP 166 C3279660 NCBI 614035 Deafness, autosomal recessive 29 NCBI curation 2 1 6 CLDN14 167 C1838263 NCBI 600316 Deafness, autosomal recessive 3 NCBI curation 2 1 18 MYO15A 168 C1846784 NCBI 607101 Deafness, autosomal recessive 30 NCBI curation 2 1 1 MYO3A 169 C1846839 NCBI 607084 Deafness, autosomal recessive 31 NCBI curation 2 1 2 DFNB31 170 C1837608 NCBI 608653 Deafness, autosomal recessive 32 NCBI curation 0 0 0 171 C1846576 NCBI 607239 Deafness, autosomal recessive 33 NCBI curation 0 0 0 172 C1837857 NCBI 608565 Deafness, autosomal recessive 35 NCBI curation 2 1 6 ESRRB 173 C1837007 NCBI 609006 Deafness, autosomal recessive 36, with or without vestibular involvement NCBI curation 3 0 0 174 C3502293 NCBI Deafness, autosomal recessive 36, without vestibular involvement NCBI curation 0 0 0 175 C1843028 NCBI 607821 Deafness, autosomal recessive 37 NCBI curation 3 1 3 MYO6 176 C1842381 NCBI 608219 Deafness, autosomal recessive 38 NCBI curation 2 0 0 177 C1842342 NCBI 608265 Deafness, autosomal recessive 39 NCBI curation 2 1 1 HGF 178 C1842345 NCBI 608264 Deafness, autosomal recessive 40 NCBI curation 2 0 0 179 C1864818 NCBI 609646 Deafness, autosomal recessive 42 NCBI curation 4 1 3 ILDR1 180 C1857809 NCBI 610154 Deafness, autosomal recessive 44 NCBI curation 2 1 1 ADCY1 181 C1539278 NCBI 612433 Deafness, autosomal recessive 45 NCBI curation 0 0 0 182 C1864815 NCBI 609647 Deafness, autosomal recessive 46 NCBI curation 3 0 0 183 C1836199 NCBI 609439 Deafness, autosomal recessive 48 NCBI curation 3 1 3 CIB2 184 C1857811 NCBI 610153 Deafness, autosomal recessive 49 NCBI curation 2 1 1 MARVELD2 185 C1833319 NCBI 600792 Deafness, autosomal recessive 5 NCBI curation 2 0 0 186 C1864968 NCBI 609941 Deafness, autosomal recessive 51 Office of Rare Diseases 9918 2 0 0 187 C1864746 NCBI 609706 Deafness, autosomal recessive 53 NCBI curation 2 1 1 COL11A2 188 C1864962 NCBI 609952 Deafness, autosomal recessive 55 Office of Rare Diseases 9919 0 0 0 189 C1857744 NCBI 610220 Deafness, autosomal recessive 59 NCBI curation 2 1 3 DFNB59 190 C1832992 NCBI 600971 Deafness, autosomal recessive 6 NCBI curation 3 1 6 TMIE 191 C3151230 NCBI 613865 Deafness, autosomal recessive 61 NCBI curation 2 1 4 SLC26A5 192 C1857820 NCBI 610143 Deafness, autosomal recessive 62 NCBI curation 2 0 0 193 C1969621 NCBI 611451 Deafness, autosomal recessive 63 NCBI curation 2 1 5 LRTOMT 194 C1853248 NCBI 610248 Deafness, autosomal recessive 65 NCBI curation 3 0 0 195 C1857750 NCBI 610212 Deafness, autosomal recessive 66 NCBI curation 0 0 0 196 C1853223 NCBI 610265 Deafness, autosomal recessive 67 NCBI curation 3 1 2 LHFPL5 197 C1835854 NCBI 610419 Deafness, autosomal recessive 68 NCBI curation 3 0 0 198 C1832978 NCBI 600974 Deafness, autosomal recessive 7 NCBI curation 2 1 9 TMC1 199 CN160615 NCBI 614934 Deafness, autosomal recessive 70 NCBI curation 1 1 1 PNPT1 200 C2748554 NCBI 612789 Deafness, autosomal recessive 71 NCBI curation 0 0 0 201 C2239351 NCBI 613718 Deafness, autosomal recessive 74 NCBI curation 1 1 2 MSRB3 202 CN181763 NCBI 615540 Deafness, autosomal recessive 76 NCBI curation 0 1 1 SYNE4 203 C2746083 NCBI 613079 Deafness, autosomal recessive 77 NCBI curation 2 1 7 LOXHD1 204 C2750082 NCBI 613307 Deafness, autosomal recessive 79 NCBI curation 2 1 5 TPRN 205 C1832827 NCBI 601072 Deafness, autosomal recessive 8 NCBI curation 3 1 15 TMPRSS3 206 C1832827 NCBI 605316 Deafness, autosomal recessive 8 NCBI curation 0 1 15 TMPRSS3 207 C2681413 NCBI 614129 Deafness, autosomal recessive 81 NCBI curation 8 1 3 CLPP 208 C2829263 NCBI 613685 Deafness, autosomal recessive 83 NCBI curation 0 0 0 209 C3150654 NCBI 613391 Deafness, autosomal recessive 84 NCBI curation 5 1 2 PTPRQ 210 C3554159 NCBI 614944 Deafness, autosomal recessive 84b NCBI curation 2 1 1 OTOGL 211 C3160740 NCBI 613392 Deafness, autosomal recessive 85 NCBI curation 0 0 0 212 CN124880 NCBI 614617 Deafness, autosomal recessive 86 NCBI curation 1 1 3 TBC1D24 213 CN180160 NCBI 615429 Deafness, autosomal recessive 88 NCBI curation 0 1 1 ELMOD3 214 C3151351 NCBI 613916 Deafness, autosomal recessive 89 NCBI curation 1 1 2 KARS 215 C1832828 NCBI 601071 Deafness, autosomal recessive 9 NCBI curation 4 1 109 OTOF 216 C3150704 NCBI 613453 Deafness, autosomal recessive 91 NCBI curation 2 1 1 SERPINB6 217 CN159249 NCBI 614899 Deafness, autosomal recessive 93 NCBI curation 1 0 0 218 C3147085 NCBI 614414 Deafness, autosomal recessive 96 NCBI curation 1 0 0 219 C3553932 NCBI 614861 Deafness, autosomal recessive 98 NCBI curation 1 0 0 220 C2678011 NCBI 300719 Deafness, cataract, retinitis pigmentosa, and sperm abnormalities NCBI curation 6 0 0 221 C1857342 NCBI 221200 Deafness, cochlear, with myopia and intellectual impairment NCBI curation 7 1 3 SLITRK6 222 C1852292 NCBI 124490 Deafness, conductive stapedial, with ear malformation and facial palsy NCBI curation 10 0 0 223 C1857341 NCBI 221300 Deafness, conductive, with malformed external ear NCBI curation 13 0 0 224 C1866053 NCBI Deafness, congenital heart defects, and posterior embryotoxon NCBI curation 0 1 1 JAG1 225 C1857348 NCBI 220300 Deafness, congenital, and familial myoclonic epilepsy NCBI curation 3 0 0 226 C2675730 NCBI 124480 Deafness, congenital, and onychodystrophy, autosomal dominant NCBI curation 12 0 0 227 C1857343 NCBI 220900 Deafness, congenital, with total albinism NCBI curation 5 0 0 228 C1857339 NCBI 221350 Deafness, congenital, with vitiligo and achalasia NCBI curation 9 0 0 229 C2673761 NCBI Deafness, digenic, GJB2/GJB3 NCBI curation 0 2 3 GJB2 GJB3 230 C2673760 NCBI Deafness, digenic, GJB2/GJB6 NCBI curation 0 2 2 - GJB2 231 C1844677 NCBI 304500 Deafness, high-frequency sensorineural, X-linked NCBI curation 2 1 6 PRPS1 232 C1844677 NCBI 304590 Deafness, high-frequency sensorineural, X-linked NCBI curation 0 1 6 PRPS1 233 C1852283 NCBI 124700 Deafness, mid-tone neural NCBI curation 4 0 0 234 C1857337 NCBI 221500 Deafness, neural, congenital moderate NCBI curation 2 0 0 235 C1857334 NCBI 221700 Deafness, neural, with atypical atopic dermatitis NCBI curation 4 0 0 236 C1864964 NCBI 609946 Deafness, neurosensory, autosomal recessive 47 Office of Rare Diseases 9935 0 0 0 237 C3151897 NCBI 500008 Deafness, nonsyndromic sensorineural, mitochondrial NCBI curation 0 6 18 - MT-ND1 MT-RNR1 MT-TH MT-TI MT-TS1 238 C1854274 NCBI 605429 Deafness, nonsyndromic, modifier 1 NCBI curation 0 0 0 239 C1832354 NCBI 601449 Deafness, progressive with stapes fixation Office of Rare Diseases 5170 3 0 0 240 C1970187 NCBI 611102 Deafness, sensorineural, and male infertility NCBI curation 4 1 1 - 241 C1857332 NCBI 221745 Deafness, sensorineural, autosomal-mitochondrial type NCBI curation 4 0 0 242 C1852280 NCBI 124950 Deafness, sensorineural, with peripheral neuropathy and arterial disease NCBI curation 11 0 0 243 C2677512 NCBI 612097 Deafness, unilateral, with delayed endolymphatic hydrops NCBI curation 3 0 0 244 C1421921 NCBI Deafness, without vestibular involvement, autosomal dominant NCBI curation 0 1 3 ESPN 245 CN043651 NCBI Deafness, X-linked Office of Rare Diseases 1715 0 0 0 246 C1844678 NCBI 304400 Deafness, X-linked 2 Office of Rare Diseases 4504 5 1 16 POU3F4 247 C1848294 NCBI 300030 Deafness, X-linked 3 NCBI curation 2 0 0 248 C1848204 NCBI 300066 Deafness, X-linked 4 NCBI curation 4 1 5 SMPX 249 C1845095 NCBI 300614 Deafness, X-linked 5 NCBI curation 7 1 15 AIFM1 250 CN184127 NCBI 300914 Deafness, X-linked 6 NCBI curation 0 0 0 251 C1824927 NCBI 400043 Deafness, Y-linked 1 NCBI curation 3 0 0 252 C1852278 NCBI 125230 Deafness-craniofacial syndrome NCBI curation 17 0 0 253 C1844680 NCBI 304350 Deafness-hypogonadism syndrome NCBI curation 0 0 0 254 C1527284 NCBI 125420 Denticles SNOMED CT 57602001 4 1 1 DSPP 255 C0205730 NCBI 125490 Dentinogenesis imperfecta - Shield's type II SNOMED CT 234969005 2 1 4 DSPP 256 C0399378 NCBI 125500 Dentinogenesis imperfecta - Shield's type III SNOMED CT 234970006 4 1 1 DSPP 257 C2677637 NCBI 600101 DFNA 2 Nonsyndromic Hearing Loss GeneReviews NBK1209 4 1 15 KCNQ4 258 CN043589 NCBI DFNA 3 Nonsyndromic Hearing Loss and Deafness GeneTests 225691 0 0 0 259 CN184629 NCBI DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss GeneReviews NBK4144 0 0 0 260 CN118854 NCBI DFNB 8/10 Nonsyndromic Hearing Loss and Deafness GeneTests 318971 0 0 0 261 C0043207 NCBI 222300 Diabetes mellitus AND insipidus with optic atrophy AND deafness SNOMED CT 70694009 28 1 11 WFS1 262 C0011860 NCBI 125853 Diabetes mellitus type 2 SNOMED CT 44054006 4 21 27 ABCC8 AKT2 CAPN10 CDKAL1 ENPP1 GCGR GPD2 HNF1A HNF1B HNF4A IGF2BP2 INSR IRS1 KCNJ11 MAPK8IP1 NEUROD1 PAX4 SLC2A2 SLC2A4 SLC30A8 TCF7L2 263 C0342289 NCBI 520000 Diabetes-deafness syndrome maternally transmitted SNOMED CT 237619009 34 3 3 MT-TE MT-TK MT-TL1 264 C1854368 NCBI 605362 Dilated cardiomyopathy 1J NCBI curation C1854368 5 1 1 EYA4 265 C1864183 NCBI 603133 Dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation NCBI curation 0 0 0 266 C1623209 NCBI 607323 Duane-radial ray syndrome Office of Rare Diseases 9182 78 1 6 SALL4 267 C1623209 NCBI 607323 Duane-radial ray syndrome Genetics Home Reference duane-radial-ray-syndrome 78 1 6 SALL4 268 C1851896 NCBI 128980 Earlobes, thickened, with conductive deafness from incudostapedial abnormalities NCBI curation 5 0 0 269 C1857068 NCBI 224800 Ectodermal dysplasia and neurosensory deafness NCBI curation 15 0 0 270 C1864966 NCBI 609944 Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features Office of Rare Diseases 9939 22 0 0 271 C3281160 NCBI 614557 Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss NCBI curation 21 0 0 272 C1865180 NCBI 602564 Emphysema, congenital, with deafness, penoscrotal web, and mental retardation NCBI curation 0 0 0 273 C1863752 NCBI 600791 Enlarged vestibular aqueduct syndrome Office of Rare Diseases 8651 4 4 67 - FOXI1 KCNJ10 SLC26A4 274 C0334082 NCBI 162900 Epidermal nevus SNOMED CT 25201003 3 5 11 - FGFR3 KRAS NRAS PIK3CA 275 C1856918 NCBI 226950 Epiphyseal dysplasia of femoral head, myopia, and deafness NCBI curation 3 0 0 276 C1851536 NCBI 132450 Epiphyseal dysplasia, multiple, with myopia and conductive deafness NCBI curation 16 1 1 COL2A1 277 C0398641 NCBI 153650 Epstein syndrome SNOMED CT 234485006 13 1 3 MYH9 278 C0265961 NCBI 133200 Erythrokeratodermia variabilis SNOMED CT 70041004 32 2 11 GJB3 GJB4 279 C1865203 NCBI 602556 Facial dysmorphism, cleft palate, hearing loss, and camptodactyly NCBI curation 0 0 0 280 C0268390 NCBI 191900 Familial amyloid nephropathy with urticaria AND deafness SNOMED CT 15123008 41 1 4 NLRP3 281 C1858493 NCBI 604352 Febrile seizures, familial, 4 NCBI curation 7 1 11 ADGRV1 282 C0403445 NCBI 153640 Fechtner syndrome SNOMED CT 236422008 14 1 7 MYH9 283 C3281128 NCBI 614524 Fibrochondrogenesis 2 NCBI curation 16 0 0 284 C1850982 NCBI 136600 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness NCBI curation 5 0 0 285 C0685838 NCBI 233400 Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance SNOMED CT 93466004 23 1 5 HSD17B4 286 CN000341 NCBI Hearing impairment International Standards For Cytogenomic Arrays Consortium (ISCA) 0 3 29 DMBX1 GJB2 PTRH2 287 CN000341 NCBI Hearing impairment Human Phenotype Ontology HP:0000365 0 3 29 DMBX1 GJB2 PTRH2 288 C2750088 NCBI 613290 Hearing loss, cisplatin-induced, susceptibility to NCBI curation 0 0 0 289 C2751629 NCBI 613035 Hearing loss, noise-induced, susceptibility to NCBI curation 0 0 0 290 CN229757 NCBI Hearing Loss/Deafness CeGaT GmbH GTR000522361 0 0 0 291 C0236038 NCBI Hereditary hearing loss and deafness GeneTests 53589 0 0 0 292 C0162361 NCBI 129500 Hidrotic ectodermal dysplasia syndrome SNOMED CT 54209007 37 1 3 GJB6 293 CN004526 NCBI High-frequency hearing impairment Human Phenotype Ontology HP:0005101 0 0 0 294 CN001598 NCBI High-frequency sensorineural hearing impairment Human Phenotype Ontology HP:0001757 0 0 0 295 C1856112 NCBI 235740 Hirschsprung disease with polydactyly, renal agenesis, and deafness NCBI curation 11 0 0 296 C1864445 NCBI 602782 Histiocytosis-lymphadenopathy plus syndrome NCBI curation 28 1 11 SLC29A3 297 C1843139 NCBI 607748 Hypercholanemia, familial NCBI curation 7 2 2 BAAT TJP2 298 C1840425 NCBI 144300 HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS OMIM 144300 8 0 0 299 C3280065 NCBI 614187 Hypertelorism, preauricular sinus, punctal pits, and deafness NCBI curation 5 0 0 300 C0410529 NCBI 146000 Hypochondroplasia SNOMED CT 205468002 30 1 2 FGFR3 301 C0410529 NCBI 146000 Hypochondroplasia GeneTests 2814 30 1 2 FGFR3 302 C0410529 NCBI 146000 Hypochondroplasia Office of Rare Diseases 6724 30 1 2 FGFR3 303 C0410529 NCBI 146000 Hypochondroplasia GeneReviews NBK1477 30 1 2 FGFR3 304 C1863870 NCBI 603463 HYPOSPADIAS, HYPERTELORISM, UPPER LID COLOBOMA, AND MIXED-TYPE HEARING LOSS OMIM 603463 23 0 0 305 C1865234 NCBI 602540 Hystrix-like ichthyosis with deafness NCBI curation 14 1 1 GJB2 306 CN007576 NCBI Infantile sensorineural hearing impairment Human Phenotype Ontology HP:0008610 0 0 0 307 C0344559 NCBI 604229 Irido-corneo-trabecular dysgenesis SNOMED CT 204153003 12 3 8 CYP1B1 FOXC1 PAX6 308 C1866560 NCBI 601631 Iridogoniodysgenesis type1 Office of Rare Diseases 2978 6 1 1 FOXC1 309 C1842031 NCBI 137600 Iridogoniodysgenesis, dominant type Office of Rare Diseases 3026 6 1 2 PITX2 310 C1327918 NCBI 147750 IVIC syndrome Office of Rare Diseases 269 33 0 0 311 C1839564 NCBI 311150 Jensen syndrome Office of Rare Diseases 3046 7 1 1 TIMM8A 312 C0022387 NCBI 220400 Jervell and Lange-Nielsen syndrome SNOMED CT 373905003 6 3 10 - KCNE1 KCNQ1 313 C0022387 NCBI 220400 Jervell and Lange-Nielsen syndrome Genetics Home Reference jervell-and-lange-nielsen-syndrome 6 3 10 - KCNE1 KCNQ1 314 C2676723 NCBI 612347 Jervell and Lange-Nielsen syndrome 2 Office of Rare Diseases 10364 4 1 3 KCNE1 315 C1835678 NCBI 148210 Keratitis-ichthyosis-deafness syndrome, autosomal dominant Office of Rare Diseases 3113 23 1 5 GJB2 316 C1835672 NCBI 148350 Keratoderma palmoplantar deafness Office of Rare Diseases 3094 5 2 4 - GJB2 317 C0342680 NCBI 148820 Klein-Waardenberg's syndrome SNOMED CT 237918004 43 1 3 PAX3 318 C0266004 NCBI 149200 Knuckle pads, deafness AND leukonychia syndrome SNOMED CT 1271009 6 1 2 GJB2 319 C0265269 NCBI 149730 Levy-Hollister syndrome SNOMED CT 23817003 79 0 0 320 C1842465 NCBI 608154 Lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones NCBI curation 27 0 0 321 C0035828 NCBI 192500 Long QT syndrome 1 Office of Rare Diseases 3284 8 3 31 - CALM2 KCNQ1 322 C1867904 NCBI 613695 Long QT syndrome 5 Office of Rare Diseases 10433 6 1 2 KCNE1 323 CN007520 NCBI Low-frequency hearing loss Human Phenotype Ontology HP:0008542 0 0 0 324 C3810445 NCBI Low-frequency sensorineural hearing impairment Human Phenotype Ontology HP:0008573 0 0 0 325 C1834478 NCBI 600208 Macrothrombocytopenia and progressive sensorineural deafness NCBI curation 11 1 1 MYH9 326 C0153594 NCBI 273300 Malignant tumor of testis SNOMED CT 363449006 7 3 3 BCL10 KIT STK11 327 CN179768 NCBI 615381 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome NCBI curation 0 1 1 POLD1 328 C1845285 NCBI 300519 Martin-Probst deafness-mental retardation syndrome NCBI curation 44 1 1 RAB40AL 329 C1855345 NCBI 248910 Mastocytosis cutaneous with short stature conductive hearing loss and microtia Office of Rare Diseases 3409 36 0 0 330 C0340978 NCBI 155100 May-Hegglin anomaly NCBI curation 11 1 7 MYH9 331 C0342287 NCBI 249270 Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness SNOMED CT 237617006 34 1 5 SLC19A2 332 C0265234 NCBI 113650 Melnick-Fraser syndrome Office of Rare Diseases 10147 40 2 19 EYA1 SIX1 333 C0265234 NCBI 113650 Melnick-Fraser syndrome SNOMED CT 290006 40 2 19 EYA1 SIX1 334 C0796225 NCBI 300844 Mental retardation, X-linked 19 NCBI curation 2 1 3 RPS6KA3 335 C1855175 NCBI 250420 Metaphyseal dysostosis mental retardation conductive deafness Office of Rare Diseases 3566 46 0 0 336 C0796059 NCBI 257920 Michels syndrome Office of Rare Diseases 4049 33 1 3 MASP1 337 C0796062 NCBI 156620 Microcephaly deafness syndrome Office of Rare Diseases 230 19 0 0 338 C2751870 NCBI 612947 Microcephaly, growth retardation, cataract, hearing loss, and unusual appearance NCBI curation 22 0 0 339 CN181766 NCBI Microtia with or without hearing impairment NCBI curation 0 0 0 340 C2676772 NCBI 612290 Microtia, hearing impairment, and cleft palate NCBI curation 5 1 2 HOXA2 341 CN185904 NCBI Mid-frequency hearing loss Human Phenotype Ontology HP:0012781 0 0 0 342 CN007565 NCBI Mild conductive hearing impairment Human Phenotype Ontology HP:0008598 0 0 0 343 CN185416 NCBI Mild hearing impairment Human Phenotype Ontology HP:0012712 0 0 0 344 CN007555 NCBI Mild neurosensory hearing impairment Human Phenotype Ontology HP:0008587 0 0 0 345 CN228811 NCBI mild-moderate hearing loss Clinical Genetics Research Group, University of Calgary 0 0 0 346 C0751651 NCBI Mitochondrial diseases NCBI curation 0 2 13 - POLG 347 CN000383 NCBI Mixed hearing impairment International Standards For Cytogenomic Arrays Consortium (ISCA) 0 0 0 348 CN000383 NCBI Mixed hearing impairment Human Phenotype Ontology HP:0000410 0 0 0 349 CN185420 NCBI Moderate conductive hearing impairment Human Phenotype Ontology HP:0012716 0 0 0 350 CN185417 NCBI Moderate hearing impairment Human Phenotype Ontology HP:0012713 0 0 0 351 CN007486 NCBI Moderate sensorineural hearing impairment Human Phenotype Ontology HP:0008504 0 0 0 352 C0796074 NCBI 304700 Mohr-Tranebjaerg syndrome Office of Rare Diseases 8331 19 1 4 TIMM8A 353 C0026709 NCBI 253200 Mucopolysaccharidosis type VI Office of Rare Diseases 7095 55 1 6 ARSB 354 C1864436 NCBI 602849 Muenke syndrome SNOMED CT 440350001 32 1 1 FGFR3 355 C1864436 NCBI 602849 Muenke syndrome Genetics Home Reference muenke-syndrome 32 1 1 FGFR3 356 C0265964 NCBI 124500 Mutilating keratoderma SNOMED CT 24559001 14 1 1 GJB2 357 C0265964 NCBI 124500 Mutilating keratoderma Office of Rare Diseases 3092 14 1 1 GJB2 358 CN073381 NCBI MYH9 related disorders Office of Rare Diseases 180 0 1 12 MYH9 359 C1858478 NCBI 604363 Myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders NCBI curation 0 0 0 360 C1834579 NCBI 159800 Myoclonus, cerebellar ataxia, and deafness NCBI curation 11 0 0 361 C2751320 NCBI 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay NCBI curation 6 1 1 GFER 362 C1850553 NCBI 256120 Nephropathy deafness hyperparathyroidism Office of Rare Diseases 3940 12 0 0 363 C1836823 NCBI 609057 Nephropathy with pretibial epidermolysis bullosa and deafness NCBI curation 8 0 0 364 C1836119 NCBI 609469 Nephropathy, progressive, with deafness NCBI curation 0 0 0 365 C1850552 NCBI 256200 Nephrosis deafness urinary tract digital malformation Office of Rare Diseases 3943 16 0 0 366 C1863649 NCBI 603641 Neuroendocrine carcinoma of salivary glands, sensorineural hearing loss, and enamel hypoplasia NCBI curation 5 0 0 367 C1859206 NCBI 214370 Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers NCBI curation 19 0 0 368 C3279885 NCBI 614116 NEUROPATHY, HEREDITARY SENSORY, TYPE IE OMIM 614116 14 1 3 DNMT1 369 CN231069 NCBI NoiseNot providedinduced hearing loss, susceptibility to, association Biesecker Laboratory - ClinSeq Project, NHGRI 0 0 0 370 CN043648 NCBI Non-syndromic genetic deafness Orphanet 87884 0 1 1 MYO6 371 C3711374 NCBI Nonsyndromic Deafness Centre de Biotechnologie de Sfax,Université de Sfax 0 2 2 COL11A2 DCDC2 372 CN043649 NCBI Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GeneTests 53606 0 0 0 373 CN043650 NCBI Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive GeneTests 53608 0 0 0 374 C1842137 NCBI nonsyndromic sensorineural hearing loss Molecular Genetics and RNA Biology,University of Milan 0 0 0 375 C0033074 NCBI Old-aged sensorineural hearing impairment Human Phenotype Ontology HP:0040113 0 0 0 376 C1850270 NCBI 258650 Optic atrophy polyneuropathy deafness Office of Rare Diseases 4102 41 0 0 377 C1833831 NCBI 165199 Optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant Office of Rare Diseases 402 6 0 0 378 C1833691 NCBI 166780 Otofaciocervical syndrome Office of Rare Diseases 4169 9 0 0 379 C0432210 NCBI 215150 Otospondylomegaepiphyseal dysplasia SNOMED CT 254060000 48 1 2 COL11A2 380 C0432210 NCBI 215150 Otospondylomegaepiphyseal dysplasia Office of Rare Diseases 4130 48 1 2 COL11A2 381 CN220453 NCBI partial sensorineural deafness Samuels research lab,Centre de Recherche du CHU Ste-Justine 0 1 1 IARS2 382 C1853482 NCBI Pear-shaped nose Human Phenotype Ontology HP:0000447 0 0 0 383 C1866731 NCBI Pear-shaped vertebrae Human Phenotype Ontology HP:0004566 0 0 0 384 C0271829 NCBI 274600 Pendred's syndrome SNOMED CT 70348004 20 3 86 - FOXI1 SLC26A4 385 C3280556 NCBI 614369 Peripheral neuropathy, myopathy, hoarseness, and hearing loss NCBI curation 10 1 1 MYH14 386 C3554105 NCBI 614926 Perrault syndrome 2 NCBI curation 3 1 1 HARS2 387 CN177835 NCBI 615300 Perrault syndrome 4 NCBI curation 0 3 7 - LARS2 RET 388 C1868390 NCBI 171480 Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia Office of Rare Diseases 5032 40 0 0 389 C1970827 NCBI 300661 Phosphoribosylpyrophosphate synthetase superactivity NCBI curation 21 1 6 PRPS1 390 C1809475 NCBI 172500 Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction SNOMED CT 237612000 14 0 0 391 CN069313 NCBI Pigmentary retinopathy and sensorineural deafness NCBI curation 0 1 1 MT-TH 392 C0266006 NCBI 262000 Pili torti-deafness syndrome SNOMED CT 67817003 15 1 2 BCS1L 393 C2675204 NCBI 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract NCBI curation 23 1 7 ABHD12 394 CN007564 NCBI Postlingual sensorineural hearing impairment Human Phenotype Ontology HP:0008596 0 0 0 395 CN000372 NCBI Prelingual sensorineural hearing impairment Human Phenotype Ontology HP:0000399 0 0 0 396 CN185419 NCBI Profound hearing impairment Human Phenotype Ontology HP:0012715 0 0 0 397 CN167204 NCBI Profound sensorineural hearing impairment Human Phenotype Ontology HP:0011476 0 0 0 398 C1861325 NCBI Progressive conductive hearing impairment Human Phenotype Ontology HP:0008607 0 0 0 399 C1842138 NCBI Progressive hearing impairment International Standards For Cytogenomic Arrays Consortium (ISCA) 0 0 0 400 C1842138 NCBI Progressive hearing impairment Human Phenotype Ontology HP:0001730 0 0 0 401 C0403443 NCBI 161900 Progressive hereditary glomerulonephritis without deafness SNOMED CT 236419006 10 0 0 402 CN000381 NCBI Progressive sensorineural hearing impairment Human Phenotype Ontology HP:0000408 0 0 0 403 C0403551 NCBI 264140 Prune belly syndrome with pulmonic stenosis, mental retardation and deafness SNOMED CT 236529001 6 0 0 404 C1867406 NCBI 178651 Pulmonic stenosis and deafness NCBI curation 4 0 0 405 C0403554 NCBI 267300 Renal tubular acidosis with progressive nerve deafness SNOMED CT 236532003 4 1 1 ATP6V1B1 406 C1864499 NCBI Renal tubular acidosis, distal, autosomal recessive, with late-onset sensorineural hearing loss NCBI curation 0 1 2 ATP6V0A4 407 C3151138 NCBI 613809 Retinitis pigmentosa 39 NCBI curation 6 2 8 - USH2A 408 C3280041 NCBI 614180 Retinitis pigmentosa 61 NCBI curation 6 1 1 CLRN1 409 C1849405 NCBI 268010 Retinitis pigmentosa inversa with deafness NCBI curation 6 0 0 410 C1849401 NCBI 268020 Retinitis pigmentosa, deafness, mental retardation, and hypogonadism Office of Rare Diseases 4683 37 0 0 411 C2749137 NCBI 300455 Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness NCBI curation 8 0 0 412 C0271097 NCBI 500004 Retinitis pigmentosa-deafness syndrome Office of Rare Diseases 4684 1 1 1 MT-TS2 413 C0271097 NCBI 500004 Retinitis pigmentosa-deafness syndrome SNOMED CT 57838006 1 1 1 MT-TS2 414 C1867155 NCBI 180550 Ring dermoid of cornea Office of Rare Diseases 9696 3 1 1 PITX2 415 C1854520 NCBI 605249 Sebastian syndrome NCBI curation 9 1 4 MYH9 416 C1843757 NCBI 607540 Secretory diarrhea, myopathy, and deafness NCBI curation 0 0 0 417 C3501265 NCBI Sensorineural deafness with hypertrophic cardiomyopathy NCBI curation 0 1 1 MYO6 418 C2748440 NCBI Sensorineural deafness with mild renal dysfunction NCBI curation 0 1 2 BSND 419 CN000380 NCBI Sensorineural hearing impairment International Standards For Cytogenomic Arrays Consortium (ISCA) 0 0 0 420 CN000380 NCBI Sensorineural hearing impairment Human Phenotype Ontology HP:0000407 0 0 0 421 C0018784 NCBI Sensorineural hearing loss SNOMED CT 60700002 0 0 0 422 CN196729 NCBI sensorineural hearing loss, late onset Molecular Genetics and RNA Biology,University of Milan 0 0 0 423 C1865645 NCBI 602340 Sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth NCBI curation 0 0 0 424 C2748572 NCBI 612780 SeSAME syndrome Office of Rare Diseases 10514 27 1 9 KCNJ10 425 CN185421 NCBI Severe conductive hearing impairment Human Phenotype Ontology HP:0012717 0 0 0 426 C2080707 NCBI Severe hearing impairment Human Phenotype Ontology HP:0012714 0 0 0 427 CN228592 NCBI Severe hearing loss School of Biological Sciences,University of the Punjab 0 0 0 428 CN007590 NCBI Severe sensorineural hearing impairment Human Phenotype Ontology HP:0008625 0 0 0 429 C1865019 NCBI 609621 Short QT syndrome 2 NCBI curation 5 1 1 KCNQ1 430 C3554018 NCBI 614896 Sinoatrial node dysfunction and deafness NCBI curation 2 1 1 CACNA1D 431 C1839267 NCBI 312910 Spastic paraparesis and deafness NCBI curation 20 0 0 432 C1866853 NCBI 182690 Spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy NCBI curation 18 0 0 433 C1857344 NCBI 220600 Split-hand/foot malformation 1 with sensorineural hearing loss NCBI curation 8 1 1 DLX5 434 C1866719 NCBI 184000 Spondyloepiphyseal dysplasia, myopia, and sensorineural deafness NCBI curation 13 0 0 435 C1865022 NCBI 609616 Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness NCBI curation 26 0 0 436 C1861481 NCBI 184840 Stickler syndrome, type 3 Office of Rare Diseases 5021 22 1 1 COL11A2 437 C1868678 NCBI 187600 Thanatophoric dysplasia type 1 Office of Rare Diseases 9295 55 1 15 FGFR3 438 C1300257 NCBI 187601 Thanatophoric dysplasia, type 2 SNOMED CT 389158007 18 1 1 FGFR3 439 C1848816 NCBI 274205 Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness NCBI curation 16 0 0 440 C1848758 NCBI 275230 Tibia, absence of, with congenital deafness NCBI curation 3 0 0 441 C0265246 NCBI 107480 Townes syndrome SNOMED CT 24750000 83 1 4 SALL1 442 CN185902 NCBI Transient hearing impairment Human Phenotype Ontology HP:0012779 0 0 0 443 C0268238 NCBI 275630 Triglyceride storage disease with ichthyosis SNOMED CT 19604005 18 2 6 - ABHD5 444 C1860646 NCBI 191200 Tune deafness NCBI curation 2 0 0 445 CN221712 NCBI Unilateral conductive hearing impairment Human Phenotype Ontology HP:0040119 0 0 0 446 C2607947 NCBI 125000 Unilateral deafness SNOMED CT 162342008 2 0 0 447 CN008738 NCBI Unilateral deafness Human Phenotype Ontology HP:0009900 0 0 0 448 C0339534 NCBI Usher syndrome type 2 SNOMED CT 232058008 0 0 0 449 C3148929 NCBI Usher syndrome type 2c, GPR98/PDZD digenic NCBI curation 0 0 0 450 C1568247 NCBI 276900 Usher syndrome, type 1 Office of Rare Diseases 5435 8 1 94 MYO7A 451 C1848638 NCBI Usher syndrome, type 1B Office of Rare Diseases 5436 0 1 9 MYO7A 452 C1848604 NCBI 276904 Usher syndrome, type 1C Office of Rare Diseases 5437 4 1 6 USH1C 453 C1848604 NCBI 276904 Usher syndrome, type 1C Cincinnati Children's Hospital Medical Center GTR000500475 4 1 6 USH1C 454 C1832845 NCBI 601067 Usher syndrome, type 1D Office of Rare Diseases 5438 4 2 36 - CDH23 455 C1865865 NCBI 602097 Usher syndrome, type 1E Office of Rare Diseases 5439 4 0 0 456 C1865885 NCBI 602083 Usher syndrome, type 1F Office of Rare Diseases 10043 4 2 12 - PCDH15 457 C1847089 NCBI 606943 Usher syndrome, type 1G NCBI curation 5 3 8 - PCDH15 USH1G 458 C3553944 NCBI 614869 Usher syndrome, type 1J CGC Genetics GTR000522776 5 1 1 CIB2 459 C1848634 NCBI 276901 Usher syndrome, type 2A Office of Rare Diseases 5440 3 3 96 - PDZD7 USH2A 460 C1854237 NCBI 605472 Usher syndrome, type 2C Office of Rare Diseases 8497 3 1 21 ADGRV1 461 C1568249 NCBI 611383 Usher syndrome, type 2D NCBI curation 4 1 3 DFNB31 462 C1568248 NCBI 276902 Usher syndrome, type 3 Office of Rare Diseases 5442 7 1 11 CLRN1 463 C1847800 NCBI 193500 Waardenburg syndrome type 1 Office of Rare Diseases 5519 39 1 6 PAX3 464 C1860339 NCBI 193510 Waardenburg syndrome type 2A Office of Rare Diseases 5521 17 1 3 MITF 465 C1848519 NCBI 277580 Waardenburg syndrome type 4A NCBI curation 20 1 3 - 466 C2750457 NCBI 613265 Waardenburg syndrome type 4B NCBI curation 12 1 4 EDN3 467 C2750452 NCBI 613266 Waardenburg syndrome type 4C NCBI curation 13 1 9 - 468 C1848488 NCBI 277610 Weissenbacher-Zweymuller syndrome Office of Rare Diseases 4351 14 1 1 COL11A2 469 C1833021 NCBI 600965 WFS1-Related Disorders GeneTests 19510 3 1 11 WFS1 470 C1833021 NCBI 600965 WFS1-Related Disorders GeneReviews NBK4144 3 1 11 WFS1 471 CN184630 NCBI Wolfram syndrome Fulgent Clinical Diagnostics Lab,Fulgent Diagnostics GTR000509392 0 0 0 472 C1858028 NCBI 604928 Wolfram syndrome 2 NCBI curation 8 1 1 - 473 C1857286 NCBI 614296 Wolfram-like syndrome, autosomal dominant NCBI curation 10 1 3 WFS1 474 C1866425 NCBI 601706 Yemenite deaf-blind hypopigmentation syndrome Office of Rare Diseases 5535 27 0 0 475 Anemia, neonatal hemolytic, fatal and near-fatal NCBI curation 0 0 0 476 Arthritis short stature deafness Office of Rare Diseases 775 0 0 0 477 Cardiomyopathy diabetes deafness Office of Rare Diseases 1103 0 0 0 478 Caudal appendage deafness Office of Rare Diseases 1163 0 0 0 479 Choanal atresia deafness cardiac defects dysmorphia Office of Rare Diseases 1279 0 0 0 480 Cleft lip palate deafness sacral lipoma Office of Rare Diseases 1374 0 0 0 481 Cleft palate colobomata radial synostosis deafness Office of Rare Diseases 1388 0 0 0 482 Conductive deafness malformed external ear Office of Rare Diseases 1460 0 0 0 483 Congenital ectodermal dysplasia with hearing loss Office of Rare Diseases 9723 0 0 0 484 Corneal anesthesia deafness mental retardation Office of Rare Diseases 1524 0 0 0 485 Deafness conductive stapedial ear malformation facial palsy Office of Rare Diseases 1684 0 0 0 486 Deafness epiphyseal dysplasia short stature Office of Rare Diseases 1688 0 0 0 487 Deafness goiter stippled epiphyses Office of Rare Diseases 1689 0 0 0 488 Deafness hyperuricemia neurologic ataxia Office of Rare Diseases 1690 0 0 0 489 Deafness hypospadias metacarpal and metatarsal syndrome Office of Rare Diseases 1692 0 0 0 490 Deafness mesenteric diverticula of small bowel neuropathy Office of Rare Diseases 1693 0 0 0 491 Deafness mixed with perilymphatic Gusher, X-linked Office of Rare Diseases 1694 0 0 0 492 Deafness nephritis ano rectal malformation Office of Rare Diseases 1695 0 0 0 493 Deafness onychodystrophy dominant form Office of Rare Diseases 1699 0 0 0 494 Deafness peripheral neuropathy arterial disease Office of Rare Diseases 1701 0 0 0 495 Deafness progressive cataract autosomal dominant Office of Rare Diseases 1702 0 0 0 496 Deafness skeletal dysplasia lip granuloma Office of Rare Diseases 1703 0 0 0 497 Deafness vitiligo achalasia Office of Rare Diseases 1705 0 0 0 498 Deafness white hair contractures papillomas Office of Rare Diseases 1706 0 0 0 499 Deafness X-linked, DFN3 Office of Rare Diseases 1707 0 0 0 500 Deafness, autosomal dominant nonsyndromic sensorineural 3 Office of Rare Diseases 9933 0 0 0 501 Deafness, isolated, due to mitochondrial transmission Office of Rare Diseases 1709 0 0 0 502 Deafness, neurosensory nonsyndromic recessive, DFN Office of Rare Diseases 1710 0 0 0 503 Diabetes hypogonadism deafness mental retardation Office of Rare Diseases 1832 0 0 0 504 Dwarfism deafness retinitis pigmentosa Office of Rare Diseases 1985 0 0 0 505 Ectodermal dysplasia neurosensory deafness Office of Rare Diseases 2053 0 0 0 506 Enchondromatosis dwarfism deafness Office of Rare Diseases 294 0 0 0 507 Epiphyseal dysplasia hearing loss dysmorphism Office of Rare Diseases 2178 0 0 0 508 Familial deafness Office of Rare Diseases 6410 0 0 0 509 Hypobetalipoproteinaemia ataxia hearing loss Office of Rare Diseases 2875 0 0 0 510 Ichthyosis deafness mental retardation skeletal anomaly Office of Rare Diseases 2949 0 0 0 511 Iris dysplasia hypertelorism deafness Office of Rare Diseases 3027 0 0 0 512 Macrothrombocytopenia progressive deafness Office of Rare Diseases 179 0 0 0 513 Mental mixed retardation deafnes clubbed digits Office of Rare Diseases 3477 0 0 0 514 Mental retardation short stature deafness genital Office of Rare Diseases 3511 0 0 0 515 Microtia, meatal atresia and conductive deafness Office of Rare Diseases 3657 0 0 0 516 Mitral regurgitation deafness skeletal anomalies Office of Rare Diseases 3686 0 0 0 517 Myoclonus cerebellar ataxia deafness Office of Rare Diseases 3873 0 0 0 518 Neuropathy motor sensory type 2 deafness mental retardation Office of Rare Diseases 3977 0 0 0 519 Neutropenia monocytopenia deafness Office of Rare Diseases 3982 0 0 0 520 Nonsyndromic hereditary sensorineural hearing loss Office of Rare Diseases 7222 0 0 0 521 Olivopontocerebellar atrophy deafness Office of Rare Diseases 4070 0 0 0 522 Optic atrophy 1 and deafness Office of Rare Diseases 9897 0 0 0 523 Optic atrophy opthalmoplegia ptosis deafness myopia Office of Rare Diseases 4101 0 0 0 524 Phocomelia ectrodactyly deafness sinus arrhythmia Office of Rare Diseases 4323 0 0 0 525 Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, an Office of Rare Diseases 4479 0 0 0 526 Renal caliceal diverticuli deafness Office of Rare Diseases 4655 0 0 0 527 Renal tubular acidosis progressive nerve deafness Office of Rare Diseases 4666 0 0 0 528 Retinis pigmentosa deafness hypogenitalism Office of Rare Diseases 4682 0 0 0 529 Schizophrenia mental retardation deafness retinitis Office of Rare Diseases 163 0 0 0 530 Short stature deafness neutrophil dysfunction Office of Rare Diseases 4841 0 0 0 531 Short stature microcephaly seizures deafness Office of Rare Diseases 4849 0 0 0 532 Spastic paraparesis deafness Office of Rare Diseases 4913 0 0 0 533 Spastic paraplegia nephritis deafness Office of Rare Diseases 4920 0 0 0 534 Thickened earlobes with conductive deafness from incus-stapes abnormalities Office of Rare Diseases 2034 0 0 0