Ear Diseases Category (1023 diseases)


Including: Ear, Hearing, Deafness, Cochlear, Auditory
See other categories (disease lists)

# Family MCID Name MIFTS
1 RNL118 Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 22
2 DBT090 Diabetes and Deafness, Maternally Inherited 40
3 KRT058 Keratoderma, Palmoplantar, with Deafness 27
4 c DFN036 Deafness, X-Linked 2 35
5 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 26
6 DFN306 Deafness, Conductive, with Malformed External Ear 18
7 c DFN352 Deafness, Autosomal Recessive 8 30
8 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 36
9 c DFN351 Deafness, Autosomal Dominant 6 35
10 c DFN262 Deafness, Autosomal Recessive 15 26
11 SCL046 Scalp-Ear-Nipple Syndrome 34
12 DFN256 Deafness and Myopia 25
13 c DFN097 Deafness, Autosomal Recessive 1a 37
14 c DFN253 Deafness, Autosomal Recessive 84a 25
15 CRN045 Corneal Dystrophy and Perceptive Deafness 25
16 c DFN196 Deafness, Autosomal Dominant 22 38
17 c DFN353 Deafness, Autosomal Dominant 12 36
18 c DFN127 Deafness, Autosomal Recessive 7 27
19 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 49
20 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 13
21 c DFN250 Deafness, Autosomal Recessive 2 38
22 c DFN124 Deafness, Autosomal Recessive 6 35
23 c DFN103 Deafness, Autosomal Recessive 1b 24
24 c DFN267 Deafness, Autosomal Dominant 4a 20
25 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 24
26 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 55
27 c DFN354 Deafness, Autosomal Dominant 20 38
28 c DFN141 Deafness, Autosomal Recessive 12 36
29 c DFN133 Deafness, Autosomal Recessive 9 32
30 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 32
31 c DFN247 Deafness, Autosomal Recessive 18a 23
32 CHL122 Cholesteatoma of Middle Ear 41
33 DFN039 Deafness-Infertility Syndrome 24
34 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 18
35 CTR007 Cataract Ataxia Deafness 8
36 c DFN197 Deafness, Autosomal Recessive 37 40
37 c DFN202 Deafness, Autosomal Dominant 48 39
38 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
39 c DFN131 Deafness, Autosomal Dominant 1 34
40 c DFN120 Deafness, Autosomal Recessive 39 34
41 CRN048 Craniofacial-Deafness-Hand Syndrome 29
42 c DFN244 Deafness, Autosomal Recessive 42 27
43 CRD221 Cardiospondylocarpofacial Syndrome 39
44 c DFN201 Deafness, Autosomal Recessive 3 32
45 c DFN147 Deafness, X-Linked 4 20
46 MCR306 Microcephaly-Deafness Syndrome 19
47 c DFN258 Deafness, Autosomal Recessive 48 28
48 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47
49 c DFN190 Deafness, Autosomal Dominant 2a 41
50 c DFN107 Deafness, Autosomal Dominant 10 39
51 c DFN092 Deafness, Autosomal Recessive 49 36
52 c DFN130 Deafness, Autosomal Recessive 21 35
53 c DFN143 Deafness, Autosomal Recessive 16 35
54 c DFN093 Deafness, Autosomal Recessive 23 34
55 c DFN094 Deafness, Autosomal Dominant 28 33
56 c DFN137 Deafness, Autosomal Dominant 13 33
57 c DFN189 Deafness, Autosomal Dominant 25 33
58 c DFN128 Deafness, Autosomal Dominant 36 31
59 c DFN121 Deafness, Autosomal Recessive 28 31
60 c DFN360 Deafness, Autosomal Dominant 69 30
61 c DFN098 Deafness, Autosomal Dominant 3a 28
62 c DFN139 Deafness, Autosomal Recessive 29 28
63 DFN350 Deafness, Aminoglycoside-Induced 26
64 c DFN138 Deafness, Autosomal Recessive 53 25
65 c DFN112 Deafness, Autosomal Recessive 63 24
66 c DFN159 Deafness, Autosomal Dominant 5 23
67 c DFN170 Deafness, Autosomal Recessive 31 23
68 c DFN255 Deafness, Autosomal Dominant 64 20
69 c DFN132 Deafness, Autosomal Recessive 22 20
70 c DFN188 Deafness, Autosomal Recessive 61 20
71 c DFN102 Deafness, Autosomal Dominant 3b 18
72 DFN021 Deafness with Labyrinthine Aplasia Microtia and Microdontia 13
73 DFN308 Deafness, Progressive, with Stapes Fixation 17
74 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 44
75 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 38
76 c DFN251 Deafness, Autosomal Dominant 11 38
77 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
78 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 35
79 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 28
80 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
81 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
82 MCR337 Microtia with Meatal Atresia and Conductive Deafness 18
83 ART057 Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness 12
84 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 39
85 c DFN249 Deafness, Autosomal Recessive 93 32
86 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 18
87 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 17
88 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 15
89 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 14
90 c DFN200 Deafness, Autosomal Dominant 17 40
91 CHD004 Chudley-Mccullough Syndrome 30
92 P ALB003 Albinism-Deafness Syndrome 28
93 c DFN108 Deafness, Autosomal Recessive 77 26
94 c DFN123 Deafness, Autosomal Recessive 79 26
95 ICH035 Ichthyosis, Hystrix-Like, with Deafness 19
96 c DFN135 Deafness, Autosomal Recessive 91 19
97 MCK007 Muckle-Wells Syndrome 64
98 c DFN269 Deafness, Autosomal Recessive 98 31
99 P ALB023 Albinism, Ocular, with Sensorineural Deafness 30
100 c DFN266 Deafness, Autosomal Dominant 4b 25
101 c DFN278 Deafness, Autosomal Dominant 65 23
102 c DFN274 Deafness, Autosomal Dominant 56 20
103 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 20
104 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 18
105 c DFN194 Deafness, X-Linked 1 18
106 DF1001 Deaf1-Associated Disorders 11
107 CDL001 Caudal Appendage Deafness 10
108 MRL003 Morel's Ear 5
109 RTN187 Retinitis Pigmentosa-Deafness Syndrome 43
110 c DFN117 Deafness, Autosomal Dominant 15 37
111 c DFN252 Deafness, Autosomal Recessive 24 35
112 c DFN330 Deafness, Autosomal Recessive 97 34
113 c DFN114 Deafness, Autosomal Recessive 67 33
114 c DFN095 Deafness, Autosomal Recessive 25 33
115 c DFN116 Deafness, Autosomal Recessive 74 29
116 c DFN181 Deafness, Autosomal Recessive 66 28
117 c DFN284 Deafness, Autosomal Dominant 67 26
118 c DFN105 Deafness, X-Linked 5 25
119 c DFN263 Deafness, Autosomal Recessive 68 24
120 c DFN155 Deafness, Autosomal Dominant 41 23
121 c DFN134 Deafness, Autosomal Dominant 40 21
122 c DFN265 Deafness, Autosomal Recessive 76 20
123 c DFN283 Deafness, Autosomal Recessive 104 20
124 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 14
125 SNS001 Sensorineural Hearing Loss 56
126 c NNS007 Nonsyndromic Deafness 44
127 c DFN174 Deafness, Autosomal Recessive 44 39
128 c DFN203 Deafness, Autosomal Recessive 30 38
129 c DFN192 Deafness, Autosomal Dominant 23 33
130 c DFN136 Deafness, Autosomal Dominant 9 33
131 c DFN260 Deafness, Autosomal Recessive 89 31
132 c DFN118 Deafness, Autosomal Dominant 44 28
133 c DFN178 Deafness, Autosomal Recessive 59 27
134 c DFN111 Deafness, Autosomal Recessive 35 26
135 c DFN248 Deafness, Autosomal Recessive 18b 25
136 c DFN243 Deafness, Autosomal Recessive 88 22
137 c DFN281 Deafness, Autosomal Recessive 103 20
138 c DFN254 Deafness, Autosomal Recessive 84b 20
139 c DFN099 Deafness, Autosomal Dominant 2b 20
140 c DFN273 Deafness, Autosomal Recessive 101 19
141 c DFN277 Deafness, Autosomal Recessive 102 19
142 c DFN242 Deafness, Autosomal Recessive 70 19
143 P PRR025 Perrault Syndrome 33
144 c DFN160 Deafness, Autosomal Dominant 52 28
145 c PRR026 Perrault Syndrome 5 25
146 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 25
147 c DFN177 Deafness, Autosomal Recessive 5 24
148 c PRR021 Perrault Syndrome 4 21
149 c DFN329 Deafness, Autosomal Dominant 66 20
150 c DFN327 Deafness, Autosomal Dominant 70 20
151 c PRR022 Perrault Syndrome 2 18
152 RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 17
153 c PRR033 Perrault Syndrome 6 16
154 BCH001 Beach Ear 14
155 P MRG008 Meier-Gorlin Syndrome 1 52
156 c MRG010 Meier-Gorlin Syndrome 3 24
157 c MRG015 Meier-Gorlin Syndrome 7 23
158 c MRG014 Meier-Gorlin Syndrome 6 20
159 c MRG009 Meier-Gorlin Syndrome 2 20
160 c MRG012 Meier-Gorlin Syndrome 5 20
161 c MRG011 Meier-Gorlin Syndrome 4 20
162 c DFN326 Deafness, Autosomal Recessive 105 19
163 c DFN336 Deafness, Autosomal Dominant 68 18
164 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 18
165 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 17
166 c MRG016 Meier-Gorlin Syndrome 8 15
167 DFN014 Deafness Nephritis Anorectal Malformation 14
168 THC001 Thickened Earlobes with Conductive Deafness from Incus-Stapes Abnormalities 5
169 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 44
170 DNN002 Donnai-Barrow Syndrome 43
171 ARC008 Auriculo-Condylar Syndrome 33
172 c PRR020 Perrault Syndrome 1 25
173 c DFN119 Deafness, Autosomal Dominant 50 25
174 CHR103 Charge Syndrome 60
175 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
176 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 33
177 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
178 c DFN246 Deafness, Autosomal Dominant 51 28
179 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
180 MDD009 Middle Ear Carcinoma 26
181 c DFN357 Deafness, Autosomal Recessive 47 25
182 c DFN241 Deafness, Autosomal Recessive 32 21
183 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 18
184 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
185 DFN355 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 17
186 DFN363 Deafness, Autosomal Recessive 26, Modifier of 9
187 c WLF013 Wolfram Syndrome 1 51
188 c WLF009 Wolfram Syndrome 2 34
189 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29
190 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
191 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 26
192 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
193 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
194 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 17
195 RNL112 Renal, Genital, and Middle Ear Anomalies 17
196 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
197 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
198 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6
199 MCR041 Macrothrombocytopenia Progressive Deafness 5
200 c TWN011 Townes-Brocks Syndrome 1 32
201 c DFN240 Deafness, Autosomal Recessive 96 29
202 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 23
203 c TWN010 Townes-Brocks Syndrome 2 22
204 c DFN276 Deafness, X-Linked 6 20
205 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 20
206 c DFN361 Deafness, Autosomal Recessive 106 18
207 QST001 Question Mark Ears, Isolated 18
208 INN002 Inner Ear Disease 54
209 ATM021 Autoimmune Inner Ear Disease 37
210 c DFN168 Deafness, Autosomal Recessive 26 36
211 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
212 c DFN183 Deafness, Autosomal Recessive 83 32
213 c DFN184 Deafness, Autosomal Recessive 85 32
214 c DFN151 Deafness, Autosomal Dominant 24 31
215 c DFN148 Deafness, Autosomal Dominant 16 31
216 c DFN029 Deafness, Autosomal Recessive 51 30
217 c DFN171 Deafness, Autosomal Recessive 33 29
218 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
219 c DFN150 Deafness, Autosomal Dominant 21 27
220 c ATS005 Autosomal Dominant Nonsyndromic Deafness 26
221 c DFN163 Deafness, Autosomal Dominant 7 25
222 c DFN154 Deafness, Autosomal Dominant 31 25
223 c DFN272 Deafness, Autosomal Dominant 54 24
224 MDD007 Middle Ear Squamous Cell Carcinoma 23
225 c DFN158 Deafness, Autosomal Dominant 49 23
226 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
227 c DFN161 Deafness, Autosomal Dominant 53 23
228 c DFN156 Deafness, Autosomal Dominant 43 22
229 c DFN173 Deafness, Autosomal Recessive 40 22
230 c DFN167 Deafness, Autosomal Recessive 20 22
231 c DFN166 Deafness, Autosomal Recessive 17 21
232 c DFN261 Deafness, Autosomal Recessive 46 21
233 c DFN180 Deafness, Autosomal Recessive 65 20
234 c DFN271 Deafness, Autosomal Dominant 58 20
235 c DFN257 Deafness, Autosomal Dominant 33 20
236 c DFN259 Deafness, Autosomal Recessive 86 20
237 c DFN162 Deafness, Autosomal Dominant 59 20
238 c DFN164 Deafness, Autosomal Recessive 13 20
239 c DFN169 Deafness, Autosomal Recessive 27 19
240 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
241 c DFN149 Deafness, Autosomal Dominant 18 19
242 c DFN172 Deafness, Autosomal Recessive 38 19
243 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
244 c DFN152 Deafness, Autosomal Dominant 27 19
245 c DFN153 Deafness, Autosomal Dominant 30 19
246 c DFN157 Deafness, Autosomal Dominant 47 19
247 c DFN333 Deafness, Autosomal Dominant 73 18
248 c DFN179 Deafness, Autosomal Recessive 62 18
249 c DFN182 Deafness, Autosomal Recessive 71 18
250 c DFN030 Deafness, Autosomal Recessive 55 18
251 CRN075 Crandall Syndrome 18
252 P XLN004 X-Linked Nonsyndromic Deafness 18
253 c DFN165 Deafness, Autosomal Recessive 14 18
254 c DFN175 Deafness, Autosomal Recessive 45 18
255 c SPN403 Spinocerebellar Ataxia, X-Linked 2 14
256 OLV003 Olivopontocerebellar Atrophy Deafness 14
257 EXT023 External Ear Carcinoma 12
258 SHR016 Short Stature Deafness Neutrophil Dysfunction 6
259 MDD010 Middle Ear Disease 50
260 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 44
261 BRW009 Brown-Vialetto-Van Laere Syndrome 1 31
262 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
263 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 25
264 MDD008 Middle Ear Adenoma 24
265 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
266 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 19
267 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
268 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 16
269 c DFN146 Deafness, X-Linked 3 16
270 ARC003 Auricular Cancer 14
271 RNL032 Renal Caliceal Diverticuli Deafness 11
272 NTR010 Neutropenia Monocytopenia Deafness 11
273 ERP001 Ear Pits, Posterior Helical 10
274 GPT001 Gupta Patton Syndrome 9
275 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 8
276 PLY016 Polyp of Middle Ear 7
277 EXT016 External Ear Squamous Cell Carcinoma 7
278 SCH028 Schlegelberger Grote Syndrome 7
279 EXT018 External Ear Basal Cell Carcinoma 7
280 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 5
281 ENC015 Enchondromatosis Dwarfism Deafness 3
282 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 26
283 MTC026 Mitochondrial Myopathy with Lactic Acidosis 26
284 CMB084 Combined Oxidative Phosphorylation Deficiency 34 20
285 c DFN325 Deafness, Autosomal Recessive 108 19
286 c DFN328 Deafness, Autosomal Dominant 72 18
287 c DFN335 Deafness, Autosomal Dominant 71 17
288 c DFN337 Deafness, Autosomal Recessive 107 17
289 P FML056 Familial Deafness 17
290 SNT004 Sinoatrial Node Dysfunction and Deafness 16
291 P DST002 Distal Arthrogryposis 56
292 c ART119 Arthrogryposis, Distal, Type 5 49
293 c ART120 Arthrogryposis, Distal, Type 3 48
294 ADT003 Auditory System Disease 45
295 c ART061 Arthrogryposis, Distal, Type 2a 45
296 c ART144 Arthrogryposis, Distal, Type 1a 44
297 AYM001 Ayme-Gripp Syndrome 37
298 c ART147 Arthrogryposis, Distal, Type 7 34
299 ABR009 Abruzzo-Erickson Syndrome 33
300 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
301 BRN062 Burn-Mckeown Syndrome 29
302 c ART112 Arthrogryposis, Distal, Type 10 27
303 c ART104 Arthrogryposis, Distal, Type 5d 26
304 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
305 c ART122 Arthrogryposis, Distal, Type 8 24
306 c ART128 Arthrogryposis, Distal, Type 6 23
307 c PRR024 Perrault Syndrome 3 22
308 c ART131 Arthrogryposis, Distal, Type 4 22
309 c JRV002 Jervell and Lange-Nielsen Syndrome 2 21
310 DFN313 Deafness-Hypogonadism Syndrome 21
311 c ART060 Arthrogryposis, Distal, Type 1b 20
312 TND007 Tune Deafness 17
313 c ART054 Arthrogryposis, Distal, Type 2e 16
314 MDD006 Middle Ear Cholesterol Granuloma 14
315 MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 4
316 P DYS154 Dystonia 64
317 c DYS056 Dystonia 12 51
318 ERM002 Ear Malformation 40
319 c DYS146 Dystonia 24 40
320 c DYS119 Dystonia 9 33
321 OCL048 Oculoauricular Syndrome 33
322 EXT056 External Ear Disease 32
323 c HRD198 Hereditary Dystonia 29
324 c DYS162 Dystonia, Juvenile-Onset 27
325 c DYS059 Dystonia 16 26
326 CHR506 Choroideremia, Deafness, and Mental Retardation 24
327 c DYS145 Dystonia 23 22
328 ATX037 Ataxia-Deafness-Retardation Syndrome 22
329 c DYS151 Dystonia 25 22
330 APC009 Apocrine Gland Secretion, Variation in 21
331 NNS044 Non-Syndromic Genetic Deafness 21
332 c DYS138 Dystonia 21 21
333 c DYS172 Dystonia 27 20
334 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 20
335 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 19
336 SPS192 Spastic Paraparesis and Deafness 19
337 BRN125 Branchiogenic-Deafness Syndrome 19
338 DFN341 Deafness, Unilateral 18
339 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 18
340 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 18
341 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 18
342 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 18
343 DFN311 Deafness-Craniofacial Syndrome 17
344 GMG001 Gemignani Syndrome 16
345 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 16
346 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 15
347 c OTF001 Otof-Related Deafness 14
348 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 13
349 CRN284 Corneal Degeneration, Ribbonlike, with Deafness 9
350 ERX001 Ear Exostoses 9
351 c KMT002 Kmt2b-Related Dystonia 8
352 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 7
353 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 6
354 ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 6
355 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
356 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
357 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
358 HRD108 Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay 5
359 SCR042 Secretory Diarrhea, Myopathy, and Deafness 5
360 NCR006 Necrosis of Ear Ossicle 5
361 PRL044 Prelingual Non-Syndromic Genetic Deafness 4
362 PST097 Postlingual Non-Syndromic Genetic Deafness 4
363 CCH003 Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 3
364 DWR004 Dwarfism Deafness Retinitis Pigmentosa 3
365 CRD024 Cardiomyopathy Diabetes Deafness 3
366 OPT022 Optic Atrophy 1 and Deafness 3
367 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
368 GLS014 Glossopalatine Ankylosis Micrognathia Ear Anomalies 2
369 CLF016 Cleft Palate Colobomata Radial Synostosis Deafness 2
370 RTN040 Retinis Pigmentosa Deafness Hypogenitalism 2
371 SHR019 Short Stature Microcephaly Seizures Deafness 2
372 OTT002 Otitis Media 66
373 P OTT001 Otitis Externa 50
374 OTM001 Otomycosis 40
375 P BRN042 Branchiootic Syndrome 38
376 c BRN108 Branchiootic Syndrome 1 37
377 P ARC016 Auriculocondylar Syndrome 1 35
378 c MLG042 Malignant Otitis Externa 27
379 c BRN128 Branchiootic Syndrome 3 23
380 c BRN073 Branchiootic Syndrome 2 21
381 c ARC011 Auriculocondylar Syndrome 2 20
382 CRT007 Cortical Deafness 20
383 c ARC017 Auriculocondylar Syndrome 3 18
384 DNR006 Duane Retraction Syndrome 3 with or Without Deafness 14
385 DFN362 Deafness, Autosomal Dominant 34, with or Without Inflammation 14
386 LBR032 Leber Congenital Amaurosis with Early-Onset Deafness 12
387 SRS002 Serous Glue Ear 7
388 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
389 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 43
390 AGR019 Age-Related Hearing Loss 33
391 ADH006 Adhesive Otitis Media 24
392 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 22
393 MCR119 Microtia, Hearing Impairment, and Cleft Palate 20
394 c DFN364 Deafness, Autosomal Recessive 57 14
395 c DFN186 Deafness, Y-Linked 1 14
396 CHL021 Cholesteatoma of External Ear 10
397 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 5
398 P MLT072 Multiple Synostoses Syndrome 45
399 VST004 Vestibular Disease 45
400 LCH015 Lichtenstein-Knorr Syndrome 26
401 c DFN280 Deafness, Autosomal Recessive 25
402 DSC001 Discharging Ear 24
403 CNR037 Cone-Rod Dystrophy and Hearing Loss 23
404 c MLT060 Multiple Synostoses Syndrome 2 22
405 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 22
406 c MLT078 Multiple Synostoses Syndrome 3 21
407 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 19
408 c HML047 Heimler Syndrome 1 19
409 HYP489 Hypotrichosis-Deafness Syndrome 19
410 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 18
411 P HML046 Heimler Syndrome 2 18
412 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
413 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
414 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 17
415 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
416 WLF014 Wolfram Syndrome, Mitochondrial Form 15
417 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
418 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
419 CLF043 Cleft Palate, Deafness, and Oligodontia 14
420 c DFN365 Deafness, Autosomal Recessive 109 14
421 PRR015 Preauricular Fistulae, Congenital 14
422 c MLT166 Multiple Synostoses Syndrome 4 13
423 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 13
424 SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 13
425 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 12
426 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 12
427 c DFN345 Deafness, Congenital, with Total Albinism 12
428 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 12
429 HRD199 Hereditary Hearing Loss and Deafness 12
430 CRB178 Cerebellar Ataxia and Neurosensory Deafness 11
431 HYP738 Hyperlipoproteinemia, Type Ii, and Deafness 11
432 ATX044 Ataxia, Deafness, and Cardiomyopathy 11
433 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
434 MDD017 Middle Ear Neuroendocrine Tumor 11
435 INT036 Internal Auditory Canal Lipoma 10
436 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
437 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 10
438 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
439 OSS016 Ossified Ear Cartilages 9
440 EPP023 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 9
441 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
442 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 9
443 FLS002 Flushing of Ears and Somnolence 9
444 PLM166 Pulmonic Stenosis and Deafness 8
445 ATR086 Atresia of External Auditory Canal and Conductive Deafness 8
446 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 8
447 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 8
448 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 8
449 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 8
450 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 8
451 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 8
452 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 8
453 OST161 Osteoma of Middle Ear 8
454 NPH050 Nephropathy, Progressive, with Deafness 8
455 RTN205 Retinitis Pigmentosa Inversa with Deafness 8
456 TBB007 Tibia, Absence of, with Congenital Deafness 8
457 CTR153 Cataract-Deafness-Hypogonadism Syndrome 8
458 DFN359 Deafness, Unilateral, with Delayed Endolymphatic Hydrops 8
459 HRY009 Hairy Ears, Y-Linked 8
460 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 8
461 EXC005 Exchondrosis of Pinna, Posterior 8
462 DFN339 Deafness, Mid-Tone Neural 7
463 ERF003 Ear Folding 7
464 DFN342 Deafness with Anhidrotic Ectodermal Dysplasia 7
465 ERR001 Earring Holes, Natural 7
466 ERS003 Ears, Ability to Move 7
467 DFN346 Deafness, Neural, Congenital Moderate 7
468 ERN001 Ear Antitragus, Tag at Base of 6
469 ERW002 Ear Without Helix 6
470 EXT004 External Auditory Meatus Lipoma 6
471 MYC082 Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 6
472 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
473 ERF002 Ear Flare 5
474 ISL023 Isolated Congenital Auditory Ossicle Malformation 5
475 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
476 INN001 Inner Ear Cancer 5
477 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
478 DVL015 Developmental Delay-Deafness Syndrome, Hildebrand Type 5
479 BRC117 Brachydactyly, Intraventricular Septal Defect, and Deafness 4
480 NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 4
481 DSL001 Dislocation of Ear Ossicle 4
482 DFN002 Dfnx1 Nonsyndromic Hearing Loss and Deafness 3
483 NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 3
484 NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 3
485 DFN008 Deafness Goiter Stippled Epiphyses 2
486 DFN011 Deafness Hypospadias Metacarpal and Metatarsal Syndrome 2
487 DFN013 Deafness Mixed with Perilymphatic Gusher, X-Linked 2
488 DFN019 Deafness Progressive Cataract Autosomal Dominant 2
489 DFN022 Deafness X-Linked, Dfn3 2
490 DFN032 Deafness, Isolated, Due to Mitochondrial Transmission 2
491 DFN037 Deafness, X-Linked, Dfn 2
492 MTN003 Motion Sickness 54
493 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
494 P OTS001 Otosclerosis 52
495 SPP008 Suppurative Otitis Media 50
496 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
497 c USH021 Usher Syndrome, Type Iid 46
498 c USH035 Usher Syndrome Type 2 45
499 c USH037 Usher Syndrome, Type Iia 44
500 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
501 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
502 c USH040 Usher Syndrome, Type Id 41
503 P LBY004 Labyrinthitis 41
504 c USH039 Usher Syndrome, Type Ic 41
505 ART002 Arts Syndrome 41
506 MCR103 Microtia 40
507 c USH020 Usher Syndrome, Type Iic 40
508 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
509 PRP028 Peripheral Vertigo 37
510 TYM001 Tympanosclerosis 37
511 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
512 MND025 Mandibulofacial Dysostosis with Alopecia 36
513 c USH042 Usher Syndrome, Type Ig 36
514 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
515 c USH041 Usher Syndrome, Type if 36
516 c ATS076 Autosomal Recessive Stickler Syndrome 35
517 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
518 c CNG379 Congenital Disorder of Glycosylation, Type It 34
519 LGH019 Light Fixation Seizure Syndrome 33
520 MST019 Mastoiditis 33
521 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
522 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 31
523 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
524 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
525 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
526 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
527 PRL001 Purulent Labyrinthitis 30
528 c CNG188 Congenital Disorder of Glycosylation, Type if 30
529 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
530 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
531 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
532 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
533 c USH031 Usher Syndrome, Type Ij 28
534 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
535 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
536 HYP674 Hyperostosis Cranialis Interna 28
537 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
538 c USH030 Usher Syndrome, Type Ik 28
539 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
540 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
541 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
542 NNS006 Non-Suppurative Otitis Media 26
543 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
544 CCH001 Cochlear Disease 26
545 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
546 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
547 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
548 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
549 c USH044 Usher Syndrome, Type Iiib 26
550 c OTS005 Otosclerosis 1 26
551 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
552 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
553 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
554 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
555 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
556 c CHR097 Chronic Purulent Otitis Media 24
557 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
558 FNT003 Fountain Syndrome 24
559 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
560 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
561 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
562 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 23
563 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
564 SPC001 Space Motion Sickness 22
565 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
566 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 21
567 STP011 Stapes Ankylosis with Broad Thumbs and Toes 20
568 c STC012 Stickler Syndrome, Type Iv 20
569 TYM002 Tympanic Membrane Disease 20
570 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 19
571 c STC011 Stickler Syndrome, Type V 19
572 c VRL004 Viral Labyrinthitis 19
573 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
574 c USH043 Usher Syndrome, Type Ih 18
575 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
576 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
577 TYS007 Tyshchenko Syndrome 17
578 c STC007 Stickler Syndrome, Type 3 16
579 EST006 Eustachian Tube Disease 15
580 c OTS007 Otosclerosis 3 15
581 c OTS012 Otosclerosis 10 14
582 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
583 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
584 SRS004 Serous Labyrinthitis 13
585 c OTS010 Otosclerosis 7 13
586 OTS003 Otosalpingitis 13
587 c OTS011 Otosclerosis 8 13
588 ACT083 Acute Serous Otitis Media 12
589 c OTS008 Otosclerosis 4 12
590 P PRL012 Purulent Acute Otitis Media 12
591 PRC015 Perichondritis of Auricle 11
592 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
593 MYR001 Myringitis Bullosa Hemorrhagica 11
594 FCL006 Focal Labyrinthitis 10
595 c OTS006 Otosclerosis 2 10
596 c OTS009 Otosclerosis 5 10
597 c USH011 Usher Syndrome, Type 2b 10
598 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
599 P ACT001 Acute Tympanitis 8
600 TXC006 Toxic Labyrinthitis 8
601 INT027 Internal Auditory Canal Meningioma 7
602 ACT014 Active Vestibular Meniere's Disease 7
603 CHR042 Chronic Atticoantral Disease 7
604 CHL020 Cholesteatoma of Attic 6
605 c CHR015 Chronic Tympanitis 6
606 c OTS004 Otosclerosis, Familial 6
607 1P3003 1p35.2 Microdeletion Syndrome 6
608 BLD055 Blue Drum Syndrome 6
609 ACT013 Active Cochleovestibular Meniere's Disease 6
610 ACT015 Active Cochlear Meniere's Disease 6
611 UNL001 Unilateral Hyperactive Labyrinth 6
612 P ACT045 Acute Eustachian Salpingitis 6
613 c CHR007 Chronic Eustachian Salpingitis 6
614 CHR049 Chronic Tubotympanic Suppurative Otitis Media 6
615 CCH007 Cochleovestibular Dysplasia 6
616 EXT043 External Auditory Canal Aplasia/hypoplasia 6
617 CHR052 Chronic Fungal Otitis Externa 5
618 BLT002 Bilateral Hyperactive Labyrinth 5
619 c CHR041 Chronic Perichondritis of Pinna 5
620 LBY002 Labyrinthine Bilateral Reactive Loss 5
621 LBY001 Labyrinthine Unilateral Reactive Loss 5
622 BLT004 Bilateral Hypoactive Labyrinth 5
623 ACT082 Acute Sanguinous Otitis Media 5
624 UNL003 Unilateral Hypoactive Labyrinth 5
625 ACT044 Acute Infection of Pinna 4
626 P ACT007 Acute Perichondritis of Pinna 4
627 XLN226 X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 4
628 ATR004 Atrophic Nonflaccid Tympanic Membrane 4
629 ATR006 Atrophic Flaccid Tympanic Membrane 4
630 P TWN003 Townes-Brocks Syndrome 58
631 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 50
632 CWC001 Cowchock Syndrome 37
633 P WLF004 Wolfram Syndrome 61
634 TTZ003 Tietz Albinism-Deafness Syndrome 44
635 ALP046 Alport Syndrome, X-Linked 75
636 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
637 c SPN294 Spinocerebellar Ataxia 1 58
638 P SPN301 Spinocerebellar Ataxia 2 56
639 c SPN291 Spinocerebellar Ataxia 7 53
640 P JRV004 Jervell and Lange-Nielsen Syndrome 1 53
641 c SPN309 Spinocerebellar Ataxia 6 49
642 c SPN293 Spinocerebellar Ataxia 12 48
643 c SPN314 Spinocerebellar Ataxia 10 47
644 c SPN312 Spinocerebellar Ataxia 14 46
645 c SPN296 Spinocerebellar Ataxia 17 46
646 c SPN100 Spinocerebellar Ataxia 27 45
647 c SPN311 Spinocerebellar Ataxia 13 44
648 c SPN305 Spinocerebellar Ataxia 11 43
649 c SPN265 Spinocerebellar Ataxia 36 42
650 c SPN290 Spinocerebellar Ataxia 15 40
651 c SPN103 Spinocerebellar Ataxia 31 40
652 c SPN106 Spinocerebellar Ataxia 5 40
653 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
654 c SPN308 Spinocerebellar Ataxia 28 39
655 c SPN304 Spinocerebellar Ataxia 8 38
656 c SPN097 Spinocerebellar Ataxia 23 37
657 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
658 c SPN299 Spinocerebellar Ataxia 20 36
659 c SPN094 Spinocerebellar Ataxia 18 36
660 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
661 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
662 c SPN266 Spinocerebellar Ataxia 35 32
663 c SPN101 Spinocerebellar Ataxia 29 32
664 c SPN105 Spinocerebellar Ataxia 4 31
665 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
666 c SPN095 Spinocerebellar Ataxia 19 31
667 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
668 c SPN099 Spinocerebellar Ataxia 26 31
669 c SPN096 Spinocerebellar Ataxia 21 30
670 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
671 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
672 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
673 c SPN104 Spinocerebellar Ataxia 34 29
674 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
675 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
676 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
677 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
678 c SPN383 Spinocerebellar Ataxia 42 27
679 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
680 c SPN098 Spinocerebellar Ataxia 25 27
681 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
682 c SPN247 Spinocerebellar Ataxia Type 19/22 27
683 c SPN283 Spinocerebellar Ataxia 37 27
684 c SPN284 Spinocerebellar Ataxia 38 27
685 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
686 c SPN372 Spinocerebellar Ataxia 43 26
687 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
688 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
689 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
690 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
691 c SPN286 Spinocerebellar Ataxia 40 24
692 c SPN323 Spinocerebellar Ataxia 41 23
693 c SPN259 Spinocerebellar Ataxia 32 21
694 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
695 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
696 c SPN420 Spinocerebellar Ataxia 46 21
697 c SPN419 Spinocerebellar Ataxia 45 20
698 c SPN418 Spinocerebellar Ataxia 44 20
699 c SPN102 Spinocerebellar Ataxia 30 20
700 c SPN107 Spinocerebellar Ataxia 9 19
701 c SPN421 Spinocerebellar Ataxia 47 17
702 c SPN336 Spinocerebellar Ataxia Type 16 17
703 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 16
704 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
705 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
706 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
707 KDS001 Kid Syndrome 43
708 BJR001 Bjornstad Syndrome 32
709 P WRD001 Waardenburg's Syndrome 58
710 c WRD030 Waardenburg Syndrome, Type 1 51
711 c WRD033 Waardenburg Syndrome, Type 2e 51
712 c WRD020 Waardenburg Syndrome, Type 4a 45
713 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
714 c WRD032 Waardenburg Syndrome, Type 2a 39
715 c ZMM002 Zimmermann-Laband Syndrome 1 37
716 c WRD024 Waardenburg Syndrome, Type 4c 35
717 c WRD031 Waardenburg Syndrome, Type 3 34
718 c WRD010 Waardenburg Syndrome Type 4 32
719 c WRD019 Waardenburg Syndrome, Type 4b 29
720 RCH002 Richards-Rundle Syndrome 29
721 P ZMM001 Zimmermann-Laband Syndrome 28
722 ABC001 Abcd Syndrome 26
723 FBR088 Fibromatosis, Gingival, with Progressive Deafness 26
724 c WRD029 Waardenburg Syndrome, Type 2b 22
725 c WRD022 Waardenburg Syndrome, Type 2d 21
726 c ZMM003 Zimmermann-Laband Syndrome 2 19
727 c WRD026 Waardenburg Syndrome, Type 2c 17
728 INS024 Insulin-Like Growth Factor I 82
729 P USH001 Usher Syndrome 58
730 c USH038 Usher Syndrome, Type Iiia 43
731 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
732 SYS006 Say Syndrome 31
733 RBF003 Riboflavin Transporter Deficiency 28
734 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
735 MDD004 Middle Ear Adenocarcinoma 11
736 DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 7
737 c USH036 Usher Syndrome, Type I 60
738 c MCR256 Microphthalmia, Syndromic 9 46
739 c MCR263 Microphthalmia, Syndromic 1 40
740 c MCR261 Microphthalmia, Syndromic 2 39
741 P MCR241 Microphthalmia, Syndromic 3 38
742 c MCR251 Microphthalmia, Syndromic 6 30
743 DFN038 Dfnb1 28
744 c MCR245 Microphthalmia, Syndromic 8 27
745 c MCR252 Microphthalmia, Syndromic 5 26
746 c MCR212 Microphthalmia, Syndromic 12 25
747 c MCR228 Microphthalmia, Syndromic 13 23
748 c MCR262 Microphthalmia, Syndromic 4 23
749 c MCR217 Microphthalmia, Syndromic 11 22
750 c MCR312 Microphthalmia, Syndromic 10 20
751 DFN307 Deafness-Oligodontia Syndrome 16
752 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 11
753 c ALP073 Alport Syndrome, Autosomal Recessive 48
754 SDD008 Sudden Sensorineural Hearing Loss 45
755 DNR002 Duane-Radial Ray Syndrome 43
756 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 28
757 CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 17
758 AYZ001 Ayazi Syndrome 9
759 c ART146 Arthrogryposis, Distal, Type 9 41
760 RBF002 Riboflavin Transporter Deficiency Neuronopathy 14
761 RRD001 Reardon Wilson Cavanagh Syndrome 10
762 RMS002 Ramos Arroyo Clark Syndrome 9
763 WLL007 Wells-Jankovic Syndrome 9
764 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
765 P DLT002 Dilated Cardiomyopathy 76
766 SKN019 Skin Melanoma 69
767 c CRD093 Cardiomyopathy, Dilated, 1a 57
768 c CRD099 Cardiomyopathy, Dilated, 1e 52
769 c CRD233 Cardiomyopathy, Dilated, 1b 50
770 c CRD187 Cardiomyopathy, Dilated, 3b 46
771 c CRD097 Cardiomyopathy, Dilated, 1d 40
772 c CRD104 Cardiomyopathy, Dilated, 1p 38
773 c CRD105 Cardiomyopathy, Dilated, 1o 35
774 DFN007 Deafness Enamel Hypoplasia Nail Defects 32
775 c CRD069 Cardiomyopathy, Dilated, 1h 27
776 c CRD102 Cardiomyopathy, Dilated, 1j 26
777 c CRD155 Cardiomyopathy, Dilated, 1kk 23
778 c CRD107 Cardiomyopathy, Dilated, 1r 21
779 c CRD101 Cardiomyopathy, Dilated, 1x 21
780 c CRD113 Cardiomyopathy, Dilated, 1v 20
781 c CRD091 Cardiomyopathy, Dilated, 1dd 20
782 c CRD153 Cardiomyopathy, Dilated, 2b 20
783 c CRD173 Cardiomyopathy, Dilated, 1nn 19
784 c CRD112 Cardiomyopathy, Dilated, 1u 19
785 c CRD149 Cardiomyopathy, Dilated, 1jj 19
786 c CRD162 Cardiomyopathy, Dilated, 1ii 19
787 c CRD114 Cardiomyopathy, Dilated, 1m 19
788 c CRD063 Cardiomyopathy, Dilated, 2a 19
789 c CRD159 Cardiomyopathy, Dilated, 1hh 19
790 c CRD115 Cardiomyopathy, Dilated, 1cc 18
791 c CRD090 Cardiomyopathy, Dilated, 1l 18
792 c CRD108 Cardiomyopathy, Dilated, 1bb 18
793 c CRD111 Cardiomyopathy, Dilated, 1i 18
794 c CRD080 Cardiomyopathy, Dilated, 1g 17
795 c CRD092 Cardiomyopathy, Dilated, 1w 17
796 c CRD060 Cardiomyopathy, Dilated, 1z 17
797 c CRD082 Cardiomyopathy, Dilated, 1gg 17
798 c CRD096 Cardiomyopathy, Dilated, 1ee 17
799 c CRD064 Cardiomyopathy, Dilated, 1ff 17
800 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 16
801 c CRD070 Cardiomyopathy, Dilated, 1k 14
802 c CRD071 Cardiomyopathy, Dilated, 1q 14
803 c DLT017 Dilated Cardiomyopathy 1t 13
804 c DMD004 Dmd-Related Dilated Cardiomyopathy 13
805 c LMN001 Lmna-Related Dilated Cardiomyopathy 11
806 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 10
807 SNT001 Santos Mateus Leal Syndrome 9
808 c CRD027 Cardiomyopathy Due to Anthracyclines 8
809 P BRT004 Bartter Disease 51
810 c BRT042 Bartter Syndrome, Type 3 41
811 c MLT059 Multiple Synostoses Syndrome 1 28
812 c BRT024 Bartter Syndrome Type 4 19
813 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 16
814 MRS002 Marshall Syndrome 44
815 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 41
816 SSC001 Susac Syndrome 36
817 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 25
818 MCR093 Microtia-Anotia 24
819 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 20
820 PHV001 Phaver Syndrome 19
821 SVR009 Seaver Cassidy Syndrome 18
822 ARC009 Auriculoosteodysplasia 17
823 MYP122 Myopathy, Congenital, with Neuropathy and Deafness 13
824 VLJ001 Viljoen Kallis Voges Syndrome 10
825 MDP002 Mdp Syndrome 9
826 MHS001 Mehes Syndrome 6
827 P CCK001 Cockayne Syndrome 63
828 c CCK007 Cockayne Syndrome B 51
829 c CCK008 Cockayne Syndrome a 48
830 P KLP003 Klippel-Feil Syndrome 46
831 c SPL024 Split-Hand/foot Malformation 3 45
832 c SPL034 Split-Hand/foot Malformation 4 40
833 c SPL067 Split-Hand/foot Malformation 1 38
834 P SPL061 Split Hand-Foot Malformation 37
835 c SPL070 Split-Hand/foot Malformation 2 36
836 c SPL033 Split-Hand/foot Malformation 6 35
837 c SPL025 Split-Hand/foot Malformation 5 32
838 c CCK002 Cockayne Syndrome Type I 30
839 c CCK003 Cockayne Syndrome Type Ii 29
840 LYM094 Lymphedema, Primary, with Myelodysplasia 29
841 EVN003 Even-Plus Syndrome 26
842 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 26
843 c CCK004 Cockayne Syndrome Type Iii 25
844 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 25
845 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 24
846 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 22
847 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 22
848 SMS004 Simosa Craniofacial Syndrome 20
849 MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 17
850 XLN128 X-Linked Intellectual Disability, Abidi Type 16
851 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 14
852 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 14
853 SGL001 Siegler Brewer Carey Syndrome 10
854 SCH020 Schaap Taylor Baraitser Syndrome 7
855 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
856 PFF002 Pfeiffer Kapferer Syndrome 6
857 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 5
858 BGT001 Bagatelle Cassidy Syndrome 5
859 WNS001 Weinstein Kliman Scully Syndrome 5
860 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
861 IDK001 Iida Kannari Syndrome 4
862 MMN001 Maumenee Syndrome 4
863 c DFN025 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 3
864 c DFN026 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 3
865 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
866 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
867 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
868 P ATX030 Ataxia-Telangiectasia 79
869 P NRF023 Neurofibromatosis, Type Ii 68
870 c NRF024 Neurofibromatosis, Type I 66
871 P CNG411 Congenital Disorder of Glycosylation, Type in 62
872 P TRC072 Treacher Collins Syndrome 1 61
873 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
874 HMF006 Hemifacial Microsomia 58
875 P STC001 Stickler Syndrome 56
876 ALS001 Alstrom Syndrome 54
877 MNR012 Meniere Disease 49
878 ACR013 Acrodysostosis 45
879 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 45
880 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 44
881 MXL016 Maxillonasal Dysplasia, Binder Type 38
882 c OTP007 Otopalatodigital Syndrome, Type Ii 38
883 c OTP006 Otopalatodigital Syndrome, Type I 36
884 c STC015 Stickler Syndrome, Type I 36
885 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 35
886 VST001 Vestibular Neuronitis 34
887 P ADT009 Auditory Neuropathy Spectrum Disorder 34
888 LMB010 Lambert Syndrome 33
889 SPR126 Superior Semicircular Canal Dehiscence 31
890 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 30
891 c STC013 Stickler Syndrome, Type Ii 29
892 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 28
893 VST006 Vestibulocochlear Nerve Disease 28
894 PTL001 Patulous Eustachian Tube 27
895 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27
896 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
897 PTR001 Petrositis 25
898 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
899 CNT017 Central Nervous System Origin Vertigo 22
900 PRL021 Perilymphatic Fistula 22
901 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
902 ADT002 Auditory System Cancer 21
903 c TRC071 Treacher Collins Syndrome 3 21
904 ERM001 Ermine Phenotype 20
905 c TRC073 Treacher Collins Syndrome 2 20
906 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 17
907 CCH008 Cochlear Nerve Deficiency 15
908 P OTP002 Otopalatodigital Spectrum Disorders 14
909 NRP028 Neuropathy with Hearing Impairment 5
910 ACT002 Acute Allergic Serous Otitis Media 5
911 ACT025 Acute Allergic Sanguinous Otitis Media 5
912 ACT063 Acute Allergic Mucoid Otitis Media 5
913 CHR629 Charcot-Marie-Tooth Disease and Deafness 42
914 P VHW001 Vohwinkel Syndrome 41
915 c VHW003 Vohwinkel Syndrome, Variant Form 28
916 c OPT053 Optic Atrophy 1 52
917 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 40
918 c OPT068 Optic Atrophy 3, Autosomal Dominant 32
919 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 25
920 c OPT064 Optic Atrophy 11 24
921 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
922 P PRM016 Primary Optic Atrophy 23
923 c OPT023 Optic Atrophy 2 22
924 c OPT025 Optic Atrophy 6 21
925 c OPT060 Optic Atrophy 8 21
926 c OPT065 Optic Atrophy 9 20
927 c OPT024 Optic Atrophy 5 17
928 c OPT059 Optic Atrophy 4 12
929 PND002 Pendred Syndrome 55
930 JHN004 Johnson Neuroectodermal Syndrome 30
931 P ALP074 Alport Syndrome, Autosomal Dominant 45
932 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
933 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
934 c PRG018 Paragangliomas 1 58
935 P PRG013 Paraganglioma 56
936 JHN001 Johanson-Blizzard Syndrome 47
937 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 37
938 c NNS018 Nonsyndromic Paraganglioma 27
939 c PRG020 Paragangliomas 3 24
940 c PRG019 Paragangliomas 2 22
941 c PRG094 Paragangliomas 5 20
942 RNS001 Raine Syndrome 45
943 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
944 P LPR002 Leopard Syndrome 54
945 c LPR012 Leopard Syndrome 1 33
946 c LPR007 Leopard Syndrome 3 20
947 c LPR011 Leopard Syndrome 2 19
948 RSD004 Rosai-Dorfman Disease 52
949 WLF002 Wolf-Hirschhorn Syndrome 52
950 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 50
951 P RNL015 Renal Hypertension 46
952 P GNR008 Generalized Resistance to Thyroid Hormone 36
953 c RNL113 Renal Failure, Progressive, with Hypertension 30
954 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 28
955 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
956 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
957 DPL003 Diploid-Triploid Mosaicism 15
958 KSZ001 Kasznica Carlson Coppedge Syndrome 15
959 OSS006 Ossicular Malformations, Familial 11
960 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
961 VLC001 Velocardiofacial Syndrome 63
962 NRR002 Norrie Disease 61
963 c ORF040 Orofaciodigital Syndrome Viii 58
964 c ORF037 Orofaciodigital Syndrome I 48
965 P ORF001 Orofaciodigital Syndrome 48
966 P BRN006 Branchiootorenal Syndrome 47
967 NNN026 Noonan Syndrome with Multiple Lentigines 46
968 c ORF034 Orofaciodigital Syndrome Vi 42
969 c BRN131 Branchiootorenal Syndrome 1 40
970 PLY030 Polydactyly Cleft Lip Palate Psychomotor Retardation 35
971 BNG018 Benign Paroxysmal Positional Nystagmus 34
972 c ORF035 Orofaciodigital Syndrome Iv 34
973 MHR002 Mohr Syndrome 32
974 c ORF033 Orofaciodigital Syndrome V 27
975 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 26
976 c ORF038 Orofaciodigital Syndrome Iii 25
977 c ORF041 Orofaciodigital Syndrome X 25
978 c ORF043 Orofaciodigital Syndrome Ix 24
979 c ORF036 Orofaciodigital Syndrome Xiv 24
980 c ORF042 Orofaciodigital Syndrome Xi 23
981 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23
982 c ORF046 Orofaciodigital Syndrome Xvi 23
983 c ORF045 Orofaciodigital Syndrome Xv 22
984 c BRN046 Branchiootorenal Spectrum Disorders 19
985 c ORF052 Orofaciodigital Syndrome Xviii 18
986 c ORF051 Orofaciodigital Syndrome Xvii 18
987 c BRN086 Branchiootorenal Syndrome 2 18
988 c ORF039 Orofaciodigital Syndrome Vii 15
989 c ORF006 Orofaciodigital Syndrome 13 13
990 c ORF005 Orofaciodigital Syndrome 12 13
991 MLG028 Malignant Neoplasm of Acoustic Nerve 8
992 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 37
993 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 63
994 c CRB193 Cerebral Amyloid Angiopathy, App-Related 37
995 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 36
996 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 35
997 WDH003 Woodhouse-Sakati Syndrome 34
998 P HRD084 Hereditary Cerebral Amyloid Angiopathy 26
999 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 59
1000 P HRD021 Hereditary Sensory Neuropathy 48
1001 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 48
1002 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 46
1003 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 37
1004 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 31
1005 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 31
1006 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 28
1007 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 27
1008 c SNS009 Sensory Neuropathy Type 1 27
1009 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 27
1010 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
1011 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
1012 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
1013 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
1014 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
1015 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 20
1016 TMT002 Temtamy Preaxial Brachydactyly Syndrome 29
1017 DFN299 Deafness-Lymphedema-Leukemia Syndrome 24
1018 MRC004 Murcs Association 32
1019 MLL009 Mullerian Aplasia 24
1020 KRN002 Kearns-Sayre Syndrome 60
1021 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 22
1022 TNG006 Tunglang Savage Bellman Syndrome 13
1023 NTH001 Netherton Syndrome 60



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