Ear Diseases Category (1001 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 DFN306 Deafness, Conductive, with Malformed External Ear 19
5 c DFN036 Deafness, X-Linked 2 36
6 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 27
7 c DFN352 Deafness, Autosomal Recessive 8 33
8 c DFN351 Deafness, Autosomal Dominant 6 39
9 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 33
10 SCL046 Scalp-Ear-Nipple Syndrome 34
11 c DFN262 Deafness, Autosomal Recessive 15 27
12 DFN256 Deafness and Myopia 25
13 c DFN097 Deafness, Autosomal Recessive 1a 38
14 c DFN253 Deafness, Autosomal Recessive 84a 28
15 CRN045 Corneal Dystrophy and Perceptive Deafness 27
16 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 14
17 c DFN196 Deafness, Autosomal Dominant 22 41
18 c DFN353 Deafness, Autosomal Dominant 12 33
19 c DFN127 Deafness, Autosomal Recessive 7 28
20 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 26
21 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 48
22 c DFN250 Deafness, Autosomal Recessive 2 42
23 c DFN124 Deafness, Autosomal Recessive 6 38
24 c DFN103 Deafness, Autosomal Recessive 1b 34
25 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 32
26 c DFN267 Deafness, Autosomal Dominant 4a 24
27 DFN039 Deafness-Infertility Syndrome 24
28 CTR007 Cataract Ataxia Deafness 8
29 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45
30 c DFN141 Deafness, Autosomal Recessive 12 44
31 c DFN354 Deafness, Autosomal Dominant 20 40
32 c DFN131 Deafness, Autosomal Dominant 1 36
33 CHL122 Cholesteatoma of Middle Ear 35
34 c DFN133 Deafness, Autosomal Recessive 9 35
35 CRN048 Craniofacial-Deafness-Hand Syndrome 29
36 c DFN247 Deafness, Autosomal Recessive 18a 26
37 CRD221 Cardiospondylocarpofacial Syndrome 39
38 MCR306 Microcephaly-Deafness Syndrome 20
39 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 45
40 c DFN202 Deafness, Autosomal Dominant 48 41
41 c DFN197 Deafness, Autosomal Recessive 37 41
42 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
43 c DFN120 Deafness, Autosomal Recessive 39 36
44 c DFN360 Deafness, Autosomal Dominant 69 30
45 c DFN244 Deafness, Autosomal Recessive 42 29
46 DFN350 Deafness, Aminoglycoside-Induced 26
47 DFN021 Deafness with Labyrinthine Aplasia Microtia and Microdontia 12
48 c DFN201 Deafness, Autosomal Recessive 3 36
49 c DFN147 Deafness, X-Linked 4 22
50 DFN308 Deafness, Progressive, with Stapes Fixation 17
51 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45
52 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
53 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 38
54 P XLN110 X-Linked Charcot-Marie-Tooth Disease 34
55 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 32
56 c DFN258 Deafness, Autosomal Recessive 48 31
57 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
58 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
59 MCR337 Microtia with Meatal Atresia and Conductive Deafness 19
60 ART057 Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness 12
61 c DFN107 Deafness, Autosomal Dominant 10 43
62 c DFN190 Deafness, Autosomal Dominant 2a 42
63 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 40
64 c DFN092 Deafness, Autosomal Recessive 49 39
65 c DFN143 Deafness, Autosomal Recessive 16 38
66 c DFN112 Deafness, Autosomal Recessive 63 37
67 c DFN137 Deafness, Autosomal Dominant 13 36
68 c DFN094 Deafness, Autosomal Dominant 28 35
69 c DFN128 Deafness, Autosomal Dominant 36 35
70 c DFN093 Deafness, Autosomal Recessive 23 35
71 c DFN189 Deafness, Autosomal Dominant 25 34
72 c DFN130 Deafness, Autosomal Recessive 21 34
73 c DFN121 Deafness, Autosomal Recessive 28 32
74 c DFN139 Deafness, Autosomal Recessive 29 30
75 c DFN159 Deafness, Autosomal Dominant 5 28
76 c DFN138 Deafness, Autosomal Recessive 53 27
77 c DFN170 Deafness, Autosomal Recessive 31 26
78 c DFN132 Deafness, Autosomal Recessive 22 22
79 c DFN255 Deafness, Autosomal Dominant 64 21
80 c DFN188 Deafness, Autosomal Recessive 61 20
81 c DFN098 Deafness, Autosomal Dominant 3a 19
82 c DFN102 Deafness, Autosomal Dominant 3b 18
83 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 18
84 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 18
85 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 15
86 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 15
87 CHD004 Chudley-Mccullough Syndrome 30
88 P ALB003 Albinism-Deafness Syndrome 28
89 ICH035 Ichthyosis, Hystrix-Like, with Deafness 19
90 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 18
91 MCK007 Muckle-Wells Syndrome 64
92 c DFN251 Deafness, Autosomal Dominant 11 41
93 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 18
94 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 18
95 CDL001 Caudal Appendage Deafness 9
96 c DFN249 Deafness, Autosomal Recessive 93 32
97 RTN187 Retinitis Pigmentosa-Deafness Syndrome 30
98 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 14
99 MRL003 Morel's Ear 4
100 SNS001 Sensorineural Hearing Loss 59
101 c DFN200 Deafness, Autosomal Dominant 17 42
102 c DFN123 Deafness, Autosomal Recessive 79 28
103 c DFN108 Deafness, Autosomal Recessive 77 26
104 c DFN135 Deafness, Autosomal Recessive 91 19
105 P PRR025 Perrault Syndrome 34
106 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
107 c DFN269 Deafness, Autosomal Recessive 98 32
108 c DFN160 Deafness, Autosomal Dominant 52 30
109 c DFN266 Deafness, Autosomal Dominant 4b 25
110 c DFN278 Deafness, Autosomal Dominant 65 23
111 c DFN177 Deafness, Autosomal Recessive 5 23
112 c DFN329 Deafness, Autosomal Dominant 66 20
113 c DFN274 Deafness, Autosomal Dominant 56 20
114 c DFN194 Deafness, X-Linked 1 20
115 c PRR026 Perrault Syndrome 5 20
116 c DFN327 Deafness, Autosomal Dominant 70 19
117 c PRR021 Perrault Syndrome 4 18
118 RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 18
119 c PRR022 Perrault Syndrome 2 16
120 c PRR033 Perrault Syndrome 6 15
121 BCH001 Beach Ear 9
122 P MRG008 Meier-Gorlin Syndrome 1 42
123 c DFN117 Deafness, Autosomal Dominant 15 40
124 c DFN252 Deafness, Autosomal Recessive 24 37
125 c DFN330 Deafness, Autosomal Recessive 97 35
126 c DFN114 Deafness, Autosomal Recessive 67 35
127 c DFN095 Deafness, Autosomal Recessive 25 34
128 c DFN116 Deafness, Autosomal Recessive 74 31
129 c DFN181 Deafness, Autosomal Recessive 66 31
130 c DFN284 Deafness, Autosomal Dominant 67 27
131 c DFN155 Deafness, Autosomal Dominant 41 26
132 c DFN263 Deafness, Autosomal Recessive 68 25
133 c MRG010 Meier-Gorlin Syndrome 3 23
134 c MRG015 Meier-Gorlin Syndrome 7 22
135 c MRG014 Meier-Gorlin Syndrome 6 21
136 c DFN265 Deafness, Autosomal Recessive 76 20
137 c DFN134 Deafness, Autosomal Dominant 40 20
138 c DFN283 Deafness, Autosomal Recessive 104 20
139 c MRG012 Meier-Gorlin Syndrome 5 20
140 c MRG009 Meier-Gorlin Syndrome 2 20
141 c MRG011 Meier-Gorlin Syndrome 4 20
142 c DFN326 Deafness, Autosomal Recessive 105 19
143 c DFN336 Deafness, Autosomal Dominant 68 19
144 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 18
145 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 15
146 c MRG016 Meier-Gorlin Syndrome 8 15
147 DFN014 Deafness Nephritis Anorectal Malformation 14
148 THC001 Thickened Earlobes with Conductive Deafness from Incus-Stapes Abnormalities 5
149 c DFN203 Deafness, Autosomal Recessive 30 40
150 DNN002 Donnai-Barrow Syndrome 40
151 c DFN174 Deafness, Autosomal Recessive 44 40
152 c DFN136 Deafness, Autosomal Dominant 9 36
153 ARC008 Auriculo-Condylar Syndrome 34
154 c DFN192 Deafness, Autosomal Dominant 23 34
155 c DFN260 Deafness, Autosomal Recessive 89 32
156 c DFN118 Deafness, Autosomal Dominant 44 30
157 c DFN178 Deafness, Autosomal Recessive 59 29
158 c DFN111 Deafness, Autosomal Recessive 35 29
159 c DFN248 Deafness, Autosomal Recessive 18b 25
160 c PRR020 Perrault Syndrome 1 24
161 c DFN243 Deafness, Autosomal Recessive 88 22
162 c DFN281 Deafness, Autosomal Recessive 103 20
163 c DFN254 Deafness, Autosomal Recessive 84b 20
164 c DFN273 Deafness, Autosomal Recessive 101 19
165 c DFN277 Deafness, Autosomal Recessive 102 19
166 c DFN242 Deafness, Autosomal Recessive 70 19
167 c DFN099 Deafness, Autosomal Dominant 2b 19
168 c NNS007 Nonsyndromic Deafness 44
169 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 37
170 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 35
171 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
172 c DFN357 Deafness, Autosomal Recessive 47 27
173 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
174 MDD009 Middle Ear Carcinoma 25
175 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 21
176 c WLF013 Wolfram Syndrome 1 52
177 c WLF009 Wolfram Syndrome 2 33
178 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 29
179 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 26
180 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 25
181 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
182 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
183 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 18
184 RNL112 Renal, Genital, and Middle Ear Anomalies 17
185 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 17
186 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
187 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6
188 MCR041 Macrothrombocytopenia Progressive Deafness 5
189 c TWN011 Townes-Brocks Syndrome 1 31
190 c DFN240 Deafness, Autosomal Recessive 96 31
191 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 27
192 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
193 c DFN119 Deafness, Autosomal Dominant 50 24
194 c TWN010 Townes-Brocks Syndrome 2 22
195 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 19
196 c DFN361 Deafness, Autosomal Recessive 106 18
197 QST001 Question Mark Ears, Isolated 18
198 ADT003 Auditory System Disease 44
199 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 38
200 ATM021 Autoimmune Inner Ear Disease 34
201 c DFN151 Deafness, Autosomal Dominant 24 33
202 c DFN148 Deafness, Autosomal Dominant 16 33
203 c DFN184 Deafness, Autosomal Recessive 85 32
204 c DFN183 Deafness, Autosomal Recessive 83 32
205 c DFN029 Deafness, Autosomal Recessive 51 32
206 c DFN168 Deafness, Autosomal Recessive 26 32
207 c DFN171 Deafness, Autosomal Recessive 33 30
208 c DFN150 Deafness, Autosomal Dominant 21 29
209 c DFN246 Deafness, Autosomal Dominant 51 29
210 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 28
211 c DFN163 Deafness, Autosomal Dominant 7 27
212 c ATS005 Autosomal Dominant Nonsyndromic Deafness 27
213 P SPN202 Spinocerebellar Ataxia, X-Linked 1 27
214 c DFN154 Deafness, Autosomal Dominant 31 26
215 c DFN272 Deafness, Autosomal Dominant 54 26
216 c DFN158 Deafness, Autosomal Dominant 49 25
217 c DFN166 Deafness, Autosomal Recessive 17 25
218 MDD007 Middle Ear Squamous Cell Carcinoma 24
219 c DFN164 Deafness, Autosomal Recessive 13 23
220 c DFN161 Deafness, Autosomal Dominant 53 23
221 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
222 c DFN173 Deafness, Autosomal Recessive 40 23
223 c DFN167 Deafness, Autosomal Recessive 20 23
224 c DFN156 Deafness, Autosomal Dominant 43 22
225 c DFN261 Deafness, Autosomal Recessive 46 22
226 c DFN271 Deafness, Autosomal Dominant 58 22
227 c DFN241 Deafness, Autosomal Recessive 32 22
228 c DFN259 Deafness, Autosomal Recessive 86 22
229 c DFN180 Deafness, Autosomal Recessive 65 21
230 c DFN149 Deafness, Autosomal Dominant 18 21
231 c DFN162 Deafness, Autosomal Dominant 59 21
232 c DFN169 Deafness, Autosomal Recessive 27 21
233 c DFN257 Deafness, Autosomal Dominant 33 20
234 c DFN172 Deafness, Autosomal Recessive 38 20
235 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 20
236 c DFN165 Deafness, Autosomal Recessive 14 20
237 c DFN157 Deafness, Autosomal Dominant 47 20
238 c DFN153 Deafness, Autosomal Dominant 30 20
239 c DFN152 Deafness, Autosomal Dominant 27 20
240 c DFN182 Deafness, Autosomal Recessive 71 19
241 c DFN179 Deafness, Autosomal Recessive 62 19
242 c DFN030 Deafness, Autosomal Recessive 55 19
243 c DFN175 Deafness, Autosomal Recessive 45 19
244 CRN075 Crandall Syndrome 18
245 c SPN363 Spinocerebellar Ataxia, X-Linked 4 18
246 P XLN004 X-Linked Nonsyndromic Deafness 18
247 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
248 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
249 DFN355 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 17
250 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
251 OLV003 Olivopontocerebellar Atrophy Deafness 15
252 EXT023 External Ear Carcinoma 12
253 SHR016 Short Stature Deafness Neutrophil Dysfunction 6
254 MDD010 Middle Ear Disease 50
255 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
256 BRW009 Brown-Vialetto-Van Laere Syndrome 1 31
257 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
258 MDD008 Middle Ear Adenoma 23
259 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 23
260 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 23
261 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 20
262 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 19
263 c DFN146 Deafness, X-Linked 3 16
264 RNL032 Renal Caliceal Diverticuli Deafness 12
265 NTR010 Neutropenia Monocytopenia Deafness 11
266 ARC003 Auricular Cancer 11
267 ERP001 Ear Pits, Posterior Helical 10
268 c EHL035 Ehlers-Danlos Syndrome, Kyphoscoliotic Form 9
269 GPT001 Gupta Patton Syndrome 9
270 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 8
271 SCH028 Schlegelberger Grote Syndrome 8
272 PLY016 Polyp of Middle Ear 7
273 EXT016 External Ear Squamous Cell Carcinoma 7
274 EXT018 External Ear Basal Cell Carcinoma 7
275 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 6
276 ENC015 Enchondromatosis Dwarfism Deafness 3
277 MTC026 Mitochondrial Myopathy with Lactic Acidosis 26
278 c DFN276 Deafness, X-Linked 6 20
279 c DFN325 Deafness, Autosomal Recessive 108 19
280 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 18
281 P FML056 Familial Deafness 18
282 c DFN328 Deafness, Autosomal Dominant 72 17
283 c DFN337 Deafness, Autosomal Recessive 107 17
284 c DFN335 Deafness, Autosomal Dominant 71 17
285 P DST002 Distal Arthrogryposis 57
286 c ART119 Arthrogryposis, Distal, Type 5 49
287 c ART120 Arthrogryposis, Distal, Type 3 47
288 c ART144 Arthrogryposis, Distal, Type 1a 46
289 c ART061 Arthrogryposis, Distal, Type 2a 45
290 c ART147 Arthrogryposis, Distal, Type 7 35
291 BRN062 Burn-Mckeown Syndrome 28
292 c ART104 Arthrogryposis, Distal, Type 5d 28
293 DFN313 Deafness-Hypogonadism Syndrome 27
294 c ART112 Arthrogryposis, Distal, Type 10 26
295 c ART122 Arthrogryposis, Distal, Type 8 24
296 c ART128 Arthrogryposis, Distal, Type 6 23
297 c ART131 Arthrogryposis, Distal, Type 4 22
298 c JRV002 Jervell and Lange-Nielsen Syndrome 2 22
299 c PRR024 Perrault Syndrome 3 22
300 c ART060 Arthrogryposis, Distal, Type 1b 20
301 TND007 Tune Deafness 17
302 c DFN333 Deafness, Autosomal Dominant 73 17
303 c ART054 Arthrogryposis, Distal, Type 2e 16
304 MDD006 Middle Ear Cholesterol Granuloma 15
305 MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 4
306 P DYS154 Dystonia 61
307 INN002 Inner Ear Disease 52
308 c DYS056 Dystonia 12 51
309 ERM002 Ear Malformation 41
310 c DYS146 Dystonia 24 40
311 OCL048 Oculoauricular Syndrome 33
312 c DYS119 Dystonia 9 32
313 EXT056 External Ear Disease 31
314 APC009 Apocrine Gland Secretion, Variation in 29
315 c HRD198 Hereditary Dystonia 28
316 c DYS162 Dystonia, Juvenile-Onset 27
317 c DYS059 Dystonia 16 25
318 CHR506 Choroideremia, Deafness, and Mental Retardation 24
319 ATX037 Ataxia-Deafness-Retardation Syndrome 23
320 NNS044 Non-Syndromic Genetic Deafness 22
321 c DYS145 Dystonia 23 22
322 c DYS151 Dystonia 25 21
323 c DYS172 Dystonia 27 21
324 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 20
325 c DYS138 Dystonia 21 20
326 BRN125 Branchiogenic-Deafness Syndrome 20
327 SPS192 Spastic Paraparesis and Deafness 20
328 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 20
329 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 19
330 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 18
331 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 18
332 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 18
333 DFN311 Deafness-Craniofacial Syndrome 17
334 GMG001 Gemignani Syndrome 17
335 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 16
336 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 16
337 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 13
338 CRN284 Corneal Degeneration, Ribbonlike, with Deafness 9
339 ERX001 Ear Exostoses 9
340 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 8
341 SYN085 Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 7
342 OTF001 Otof-Related Deafness 7
343 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 6
344 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
345 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
346 ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 6
347 SCR042 Secretory Diarrhea, Myopathy, and Deafness 5
348 HRD108 Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay 5
349 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
350 NCR006 Necrosis of Ear Ossicle 5
351 PST097 Postlingual Non-Syndromic Genetic Deafness 4
352 PRL044 Prelingual Non-Syndromic Genetic Deafness 4
353 DWR004 Dwarfism Deafness Retinitis Pigmentosa 3
354 CCH003 Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 3
355 CRD024 Cardiomyopathy Diabetes Deafness 3
356 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
357 OPT022 Optic Atrophy 1 and Deafness 3
358 SHR019 Short Stature Microcephaly Seizures Deafness 2
359 RTN040 Retinis Pigmentosa Deafness Hypogenitalism 2
360 CLF016 Cleft Palate Colobomata Radial Synostosis Deafness 2
361 ART036 Arthritis Short Stature Deafness 2
362 GLS014 Glossopalatine Ankylosis Micrognathia Ear Anomalies 2
363 OTT002 Otitis Media 67
364 P OTT001 Otitis Externa 51
365 c BRN108 Branchiootic Syndrome 1 47
366 OTM001 Otomycosis 39
367 P BRN042 Branchiootic Syndrome 39
368 P ARC016 Auriculocondylar Syndrome 1 35
369 c MLG042 Malignant Otitis Externa 28
370 c BRN073 Branchiootic Syndrome 2 22
371 c BRN128 Branchiootic Syndrome 3 21
372 CRT007 Cortical Deafness 21
373 c ARC011 Auriculocondylar Syndrome 2 20
374 c ARC017 Auriculocondylar Syndrome 3 17
375 SNT004 Sinoatrial Node Dysfunction and Deafness 16
376 DNR006 Duane Retraction Syndrome 3 with or Without Deafness 15
377 SRS002 Serous Glue Ear 7
378 P OTS002 Otospondylomegaepiphyseal Dysplasia 45
379 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 44
380 AYM001 Ayme-Gripp Syndrome 40
381 AGR019 Age-Related Hearing Loss 33
382 c ATS006 Autosomal Recessive Nonsyndromic Deafness 29
383 ADH006 Adhesive Otitis Media 25
384 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 22
385 MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 20
386 MCR119 Microtia, Hearing Impairment, and Cleft Palate 19
387 CHL021 Cholesteatoma of External Ear 11
388 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 5
389 P MLT072 Multiple Synostoses Syndrome 46
390 VST004 Vestibular Disease 45
391 LCH015 Lichtenstein-Knorr Syndrome 28
392 c DFN280 Deafness, Autosomal Recessive 25
393 CNR037 Cone-Rod Dystrophy and Hearing Loss 23
394 c MLT060 Multiple Synostoses Syndrome 2 23
395 DSC001 Discharging Ear 22
396 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 22
397 c MLT078 Multiple Synostoses Syndrome 3 20
398 HYP489 Hypotrichosis-Deafness Syndrome 19
399 P HML047 Heimler Syndrome 1 19
400 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 19
401 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 18
402 c HML046 Heimler Syndrome 2 18
403 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 18
404 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 17
405 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 17
406 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
407 WLF014 Wolfram Syndrome, Mitochondrial Form 15
408 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
409 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
410 CLF043 Cleft Palate, Deafness, and Oligodontia 14
411 DFN341 Deafness, Unilateral 14
412 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 13
413 SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 13
414 c DFN186 Deafness, Y-Linked 1 13
415 PRR015 Preauricular Fistulae, Congenital 13
416 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 12
417 CRB178 Cerebellar Ataxia and Neurosensory Deafness 12
418 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 12
419 HRD199 Hereditary Hearing Loss and Deafness 12
420 c DFN345 Deafness, Congenital, with Total Albinism 12
421 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 12
422 HYP738 Hyperlipoproteinemia, Type Ii, and Deafness 11
423 ATX044 Ataxia, Deafness, and Cardiomyopathy 11
424 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
425 MDD017 Middle Ear Neuroendocrine Tumor 11
426 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10
427 DFN362 Deafness, Autosomal Dominant 34, with or Without Inflammation 10
428 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 9
429 OSS016 Ossified Ear Cartilages 9
430 RTN205 Retinitis Pigmentosa Inversa with Deafness 9
431 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 9
432 EPP023 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 9
433 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 9
434 FLS002 Flushing of Ears and Somnolence 9
435 PLM166 Pulmonic Stenosis and Deafness 9
436 ATR086 Atresia of External Auditory Canal and Conductive Deafness 8
437 NPH050 Nephropathy, Progressive, with Deafness 8
438 INT036 Internal Auditory Canal Lipoma 8
439 OST161 Osteoma of Middle Ear 8
440 DFN359 Deafness, Unilateral, with Delayed Endolymphatic Hydrops 8
441 CTR153 Cataract-Deafness-Hypogonadism Syndrome 8
442 HRY009 Hairy Ears, Y-Linked 8
443 TBB007 Tibia, Absence of, with Congenital Deafness 8
444 DFN185 Deafness, Nonsyndromic, Modifier 1 8
445 EXC005 Exchondrosis of Pinna, Posterior 8
446 DFN339 Deafness, Mid-Tone Neural 8
447 DFN342 Deafness with Anhidrotic Ectodermal Dysplasia 7
448 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 7
449 ERS003 Ears, Ability to Move 7
450 ERR001 Earring Holes, Natural 7
451 DFN346 Deafness, Neural, Congenital Moderate 7
452 MYC082 Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 7
453 ERW002 Ear Without Helix 7
454 ERN001 Ear Antitragus, Tag at Base of 7
455 ERF003 Ear Folding 7
456 EXT004 External Auditory Meatus Lipoma 6
457 ERF002 Ear Flare 6
458 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 6
459 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
460 ISL023 Isolated Congenital Auditory Ossicle Malformation 5
461 INN001 Inner Ear Cancer 5
462 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
463 DFN002 Dfnx1 Nonsyndromic Hearing Loss and Deafness 5
464 NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 5
465 DVL015 Developmental Delay-Deafness Syndrome, Hildebrand Type 5
466 BRC117 Brachydactyly, Intraventricular Septal Defect, and Deafness 4
467 EPT026 Epithelio-Exfoliative Colitis-Deafness Syndrome 4
468 NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 4
469 DSL001 Dislocation of Ear Ossicle 4
470 NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 3
471 DFN037 Deafness, X-Linked, Dfn 2
472 DFN032 Deafness, Isolated, Due to Mitochondrial Transmission 2
473 DFN022 Deafness X-Linked, Dfn3 2
474 DFN019 Deafness Progressive Cataract Autosomal Dominant 2
475 DFN013 Deafness Mixed with Perilymphatic Gusher, X-Linked 2
476 DFN011 Deafness Hypospadias Metacarpal and Metatarsal Syndrome 2
477 DFN008 Deafness Goiter Stippled Epiphyses 2
478 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
479 P OTS001 Otosclerosis 53
480 MTN003 Motion Sickness 52
481 SPP008 Suppurative Otitis Media 50
482 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
483 c USH021 Usher Syndrome, Type Iid 46
484 c USH037 Usher Syndrome, Type Iia 45
485 c USH035 Usher Syndrome Type 2 45
486 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 42
487 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
488 ART002 Arts Syndrome 41
489 c USH039 Usher Syndrome, Type Ic 41
490 P LBY004 Labyrinthitis 41
491 c USH020 Usher Syndrome, Type Iic 41
492 c USH040 Usher Syndrome, Type Id 41
493 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
494 MCR103 Microtia 39
495 PRP028 Peripheral Vertigo 37
496 TYM001 Tympanosclerosis 37
497 MND025 Mandibulofacial Dysostosis with Alopecia 37
498 c USH042 Usher Syndrome, Type Ig 36
499 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
500 c ATS076 Autosomal Recessive Stickler Syndrome 36
501 c USH041 Usher Syndrome, Type if 36
502 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
503 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
504 c CNG379 Congenital Disorder of Glycosylation, Type It 34
505 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
506 MST019 Mastoiditis 33
507 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
508 LGH019 Light Fixation Seizure Syndrome 32
509 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
510 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
511 PRL001 Purulent Labyrinthitis 30
512 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
513 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
514 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 30
515 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
516 c USH031 Usher Syndrome, Type Ij 30
517 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
518 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
519 c CNG188 Congenital Disorder of Glycosylation, Type if 29
520 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
521 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
522 c USH030 Usher Syndrome, Type Ik 28
523 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
524 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
525 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
526 NNS006 Non-Suppurative Otitis Media 28
527 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
528 HYP674 Hyperostosis Cranialis Interna 27
529 CCH001 Cochlear Disease 27
530 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
531 c USH044 Usher Syndrome, Type Iiib 26
532 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
533 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
534 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
535 c CHR097 Chronic Purulent Otitis Media 26
536 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
537 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
538 c OTS005 Otosclerosis 1 25
539 TYM002 Tympanic Membrane Disease 25
540 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
541 FNT003 Fountain Syndrome 25
542 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
543 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
544 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
545 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
546 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
547 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
548 SPC001 Space Motion Sickness 23
549 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
550 c STC012 Stickler Syndrome, Type Iv 23
551 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
552 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 22
553 c STC011 Stickler Syndrome, Type V 22
554 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
555 P OTP001 Otopalatodigital Syndrome 21
556 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 21
557 STP011 Stapes Ankylosis with Broad Thumbs and Toes 20
558 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
559 c USH043 Usher Syndrome, Type Ih 19
560 c VRL004 Viral Labyrinthitis 19
561 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
562 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
563 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 17
564 TYS007 Tyshchenko Syndrome 17
565 c OTS010 Otosclerosis 7 15
566 c OTP002 Otopalatodigital Spectrum Disorders 15
567 c OTS012 Otosclerosis 10 15
568 c OTS007 Otosclerosis 3 14
569 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
570 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
571 SRS004 Serous Labyrinthitis 14
572 c STC007 Stickler Syndrome, Type 3 14
573 c OTS011 Otosclerosis 8 14
574 c OTS008 Otosclerosis 4 13
575 OTS003 Otosalpingitis 13
576 ACT083 Acute Serous Otitis Media 13
577 PRC015 Perichondritis of Auricle 12
578 P PRL012 Purulent Acute Otitis Media 12
579 EST006 Eustachian Tube Disease 12
580 c OTS009 Otosclerosis 5 12
581 c USH011 Usher Syndrome, Type 2b 12
582 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
583 MYR001 Myringitis Bullosa Hemorrhagica 11
584 FCL006 Focal Labyrinthitis 11
585 c OTS006 Otosclerosis 2 10
586 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
587 CHL020 Cholesteatoma of Attic 8
588 TXC006 Toxic Labyrinthitis 8
589 P ACT001 Acute Tympanitis 8
590 c OTS004 Otosclerosis, Familial 8
591 INT027 Internal Auditory Canal Meningioma 7
592 ACT014 Active Vestibular Meniere's Disease 7
593 CHR042 Chronic Atticoantral Disease 7
594 c CHR015 Chronic Tympanitis 7
595 CHR052 Chronic Fungal Otitis Externa 6
596 1P3003 1p35.2 Microdeletion Syndrome 6
597 BLD055 Blue Drum Syndrome 6
598 ACT013 Active Cochleovestibular Meniere's Disease 6
599 ACT015 Active Cochlear Meniere's Disease 6
600 UNL001 Unilateral Hyperactive Labyrinth 6
601 P ACT045 Acute Eustachian Salpingitis 6
602 c CHR007 Chronic Eustachian Salpingitis 6
603 CHR049 Chronic Tubotympanic Suppurative Otitis Media 6
604 EXT043 External Auditory Canal Aplasia/hypoplasia 6
605 BLT002 Bilateral Hyperactive Labyrinth 5
606 c CHR041 Chronic Perichondritis of Pinna 5
607 LBY002 Labyrinthine Bilateral Reactive Loss 5
608 LBY001 Labyrinthine Unilateral Reactive Loss 5
609 BLT004 Bilateral Hypoactive Labyrinth 5
610 ACT082 Acute Sanguinous Otitis Media 5
611 UNL003 Unilateral Hypoactive Labyrinth 5
612 ACT044 Acute Infection of Pinna 4
613 P ACT007 Acute Perichondritis of Pinna 4
614 ATR004 Atrophic Nonflaccid Tympanic Membrane 4
615 ATR006 Atrophic Flaccid Tympanic Membrane 4
616 P TWN003 Townes-Brocks Syndrome 57
617 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 51
618 CWC001 Cowchock Syndrome 36
619 TTZ003 Tietz Albinism-Deafness Syndrome 44
620 P WLF004 Wolfram Syndrome 61
621 ALP046 Alport Syndrome, X-Linked 74
622 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
623 c SPN294 Spinocerebellar Ataxia 1 58
624 P SPN301 Spinocerebellar Ataxia 2 56
625 P JRV004 Jervell and Lange-Nielsen Syndrome 1 54
626 c SPN291 Spinocerebellar Ataxia 7 52
627 c SPN309 Spinocerebellar Ataxia 6 48
628 c SPN293 Spinocerebellar Ataxia 12 47
629 c SPN296 Spinocerebellar Ataxia 17 46
630 c SPN314 Spinocerebellar Ataxia 10 46
631 c SPN100 Spinocerebellar Ataxia 27 44
632 c SPN305 Spinocerebellar Ataxia 11 43
633 c SPN312 Spinocerebellar Ataxia 14 43
634 c SPN311 Spinocerebellar Ataxia 13 42
635 c SPN265 Spinocerebellar Ataxia 36 41
636 c SPN103 Spinocerebellar Ataxia 31 40
637 c SPN290 Spinocerebellar Ataxia 15 40
638 c SPN106 Spinocerebellar Ataxia 5 40
639 c SPN308 Spinocerebellar Ataxia 28 38
640 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
641 c SPN304 Spinocerebellar Ataxia 8 36
642 c SPN094 Spinocerebellar Ataxia 18 36
643 c SPN097 Spinocerebellar Ataxia 23 36
644 c SPN299 Spinocerebellar Ataxia 20 35
645 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
646 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
647 c SPN104 Spinocerebellar Ataxia 34 32
648 c SPN101 Spinocerebellar Ataxia 29 31
649 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
650 c SPN266 Spinocerebellar Ataxia 35 31
651 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
652 c SPN099 Spinocerebellar Ataxia 26 30
653 c SPN105 Spinocerebellar Ataxia 4 30
654 c SPN095 Spinocerebellar Ataxia 19 30
655 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
656 c SPN096 Spinocerebellar Ataxia 21 30
657 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
658 c SPN283 Spinocerebellar Ataxia 37 29
659 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
660 c SPN284 Spinocerebellar Ataxia 38 27
661 c SPN372 Spinocerebellar Ataxia 43 27
662 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
663 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
664 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
665 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
666 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
667 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
668 c SPN247 Spinocerebellar Ataxia Type 19/22 26
669 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
670 c SPN098 Spinocerebellar Ataxia 25 26
671 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
672 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
673 c SPN383 Spinocerebellar Ataxia 42 25
674 c DFN105 Deafness, X-Linked 5 25
675 c SPN286 Spinocerebellar Ataxia 40 24
676 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
677 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
678 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
679 c SPN323 Spinocerebellar Ataxia 41 22
680 c SPN259 Spinocerebellar Ataxia 32 21
681 c SPN102 Spinocerebellar Ataxia 30 21
682 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
683 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
684 c SPN418 Spinocerebellar Ataxia 44 20
685 c SPN107 Spinocerebellar Ataxia 9 20
686 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
687 c SPN336 Spinocerebellar Ataxia Type 16 17
688 c SPN420 Spinocerebellar Ataxia 46 16
689 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 16
690 c SPN419 Spinocerebellar Ataxia 45 15
691 KDS001 Kid Syndrome 44
692 P WRD001 Waardenburg's Syndrome 57
693 c WRD030 Waardenburg Syndrome, Type 1 52
694 c WRD033 Waardenburg Syndrome, Type 2e 52
695 c WRD020 Waardenburg Syndrome, Type 4a 46
696 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
697 c ZMM002 Zimmermann-Laband Syndrome 1 38
698 c WRD032 Waardenburg Syndrome, Type 2a 37
699 c WRD031 Waardenburg Syndrome, Type 3 34
700 c WRD010 Waardenburg Syndrome Type 4 33
701 c WRD024 Waardenburg Syndrome, Type 4c 32
702 BJR001 Bjornstad Syndrome 32
703 RCH002 Richards-Rundle Syndrome 30
704 c WRD019 Waardenburg Syndrome, Type 4b 29
705 P ZMM001 Zimmermann-Laband Syndrome 28
706 FBR088 Fibromatosis, Gingival, with Progressive Deafness 25
707 c WRD029 Waardenburg Syndrome, Type 2b 23
708 c WRD022 Waardenburg Syndrome, Type 2d 21
709 c ZMM003 Zimmermann-Laband Syndrome 2 18
710 c WRD026 Waardenburg Syndrome, Type 2c 18
711 INS024 Insulin-Like Growth Factor I 83
712 CHR103 Charge Syndrome 59
713 ABC001 Abcd Syndrome 25
714 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 20
715 P USH001 Usher Syndrome 59
716 c USH038 Usher Syndrome, Type Iiia 45
717 EPS006 Epstein Syndrome 33
718 SYS006 Say Syndrome 31
719 RBF003 Riboflavin Transporter Deficiency 25
720 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
721 MDD004 Middle Ear Adenocarcinoma 10
722 DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 7
723 c USH036 Usher Syndrome, Type I 61
724 PND002 Pendred Syndrome 55
725 c MCR256 Microphthalmia, Syndromic 9 48
726 c MCR263 Microphthalmia, Syndromic 1 41
727 c MCR261 Microphthalmia, Syndromic 2 40
728 c MCR241 Microphthalmia, Syndromic 3 39
729 c MCR245 Microphthalmia, Syndromic 8 31
730 P MCR251 Microphthalmia, Syndromic 6 30
731 DFN038 Dfnb1 29
732 c MCR252 Microphthalmia, Syndromic 5 27
733 c MCR212 Microphthalmia, Syndromic 12 25
734 c MCR228 Microphthalmia, Syndromic 13 24
735 c MCR262 Microphthalmia, Syndromic 4 23
736 c MCR217 Microphthalmia, Syndromic 11 22
737 c MCR312 Microphthalmia, Syndromic 10 19
738 DFN307 Deafness-Oligodontia Syndrome 17
739 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 12
740 c ALP073 Alport Syndrome, Autosomal Recessive 50
741 SDD008 Sudden Sensorineural Hearing Loss 46
742 DNR002 Duane-Radial Ray Syndrome 44
743 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 26
744 CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 19
745 c ART146 Arthrogryposis, Distal, Type 9 41
746 RBF002 Riboflavin Transporter Deficiency Neuronopathy 15
747 WLL007 Wells-Jankovic Syndrome 11
748 AYZ001 Ayazi Syndrome 11
749 RRD001 Reardon Wilson Cavanagh Syndrome 10
750 RMS002 Ramos Arroyo Clark Syndrome 9
751 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
752 P DLT002 Dilated Cardiomyopathy 76
753 SKN019 Skin Melanoma 63
754 c CRD093 Cardiomyopathy, Dilated, 1a 58
755 c CRD099 Cardiomyopathy, Dilated, 1e 53
756 c CRD233 Cardiomyopathy, Dilated, 1b 51
757 c CRD187 Cardiomyopathy, Dilated, 3b 46
758 c CRD097 Cardiomyopathy, Dilated, 1d 40
759 c CRD104 Cardiomyopathy, Dilated, 1p 38
760 c CRD105 Cardiomyopathy, Dilated, 1o 36
761 DFN007 Deafness Enamel Hypoplasia Nail Defects 32
762 c CRD069 Cardiomyopathy, Dilated, 1h 27
763 c CRD102 Cardiomyopathy, Dilated, 1j 26
764 c CRD091 Cardiomyopathy, Dilated, 1dd 24
765 c CRD155 Cardiomyopathy, Dilated, 1kk 23
766 c CRD107 Cardiomyopathy, Dilated, 1r 21
767 c CRD101 Cardiomyopathy, Dilated, 1x 21
768 c CRD113 Cardiomyopathy, Dilated, 1v 20
769 c CRD153 Cardiomyopathy, Dilated, 2b 20
770 c CRD112 Cardiomyopathy, Dilated, 1u 19
771 c CRD173 Cardiomyopathy, Dilated, 1nn 19
772 c CRD149 Cardiomyopathy, Dilated, 1jj 19
773 c CRD162 Cardiomyopathy, Dilated, 1ii 19
774 c CRD063 Cardiomyopathy, Dilated, 2a 19
775 c CRD114 Cardiomyopathy, Dilated, 1m 19
776 c CRD159 Cardiomyopathy, Dilated, 1hh 19
777 c CRD115 Cardiomyopathy, Dilated, 1cc 18
778 c CRD108 Cardiomyopathy, Dilated, 1bb 18
779 c CRD090 Cardiomyopathy, Dilated, 1l 18
780 c CRD111 Cardiomyopathy, Dilated, 1i 18
781 c CRD080 Cardiomyopathy, Dilated, 1g 17
782 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 17
783 c CRD082 Cardiomyopathy, Dilated, 1gg 17
784 c CRD060 Cardiomyopathy, Dilated, 1z 17
785 c CRD092 Cardiomyopathy, Dilated, 1w 17
786 c CRD064 Cardiomyopathy, Dilated, 1ff 17
787 c CRD096 Cardiomyopathy, Dilated, 1ee 17
788 c CRD071 Cardiomyopathy, Dilated, 1q 14
789 c CRD070 Cardiomyopathy, Dilated, 1k 14
790 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 13
791 c DLT017 Dilated Cardiomyopathy 1t 13
792 SNT001 Santos Mateus Leal Syndrome 9
793 c CRD027 Cardiomyopathy Due to Anthracyclines 8
794 P BRT004 Bartter Disease 52
795 c BRT042 Bartter Syndrome, Type 3 41
796 FCH003 Fechtner Syndrome 38
797 c MLT059 Multiple Synostoses Syndrome 1 34
798 ABR009 Abruzzo-Erickson Syndrome 33
799 c BRT024 Bartter Syndrome Type 4 18
800 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 16
801 MRS002 Marshall Syndrome 45
802 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 44
803 SSC001 Susac Syndrome 36
804 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
805 MCR093 Microtia-Anotia 24
806 PHV001 Phaver Syndrome 19
807 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 19
808 SVR009 Seaver Cassidy Syndrome 18
809 ARC009 Auriculoosteodysplasia 17
810 MYP122 Myopathy, Congenital, with Neuropathy and Deafness 13
811 VLJ001 Viljoen Kallis Voges Syndrome 10
812 MHS001 Mehes Syndrome 7
813 P CCK001 Cockayne Syndrome 64
814 c CCK007 Cockayne Syndrome B 52
815 c SPL024 Split-Hand/foot Malformation 3 49
816 c CCK008 Cockayne Syndrome a 48
817 P KLP003 Klippel-Feil Syndrome 46
818 c SPL034 Split-Hand/foot Malformation 4 41
819 P SPL061 Split Hand-Foot Malformation 41
820 c SPL067 Split-Hand/foot Malformation 1 40
821 c SPL070 Split-Hand/foot Malformation 2 37
822 c SPL033 Split-Hand/foot Malformation 6 35
823 c SPL025 Split-Hand/foot Malformation 5 32
824 c CCK003 Cockayne Syndrome Type Ii 30
825 c CCK002 Cockayne Syndrome Type I 28
826 LYM094 Lymphedema, Primary, with Myelodysplasia 27
827 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 26
828 c CCK004 Cockayne Syndrome Type Iii 26
829 EVN003 Even-Plus Syndrome 25
830 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 25
831 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 23
832 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 21
833 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 21
834 SMS004 Simosa Craniofacial Syndrome 20
835 MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 17
836 XLN128 X-Linked Intellectual Disability, Abidi Type 16
837 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 14
838 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 14
839 SGL001 Siegler Brewer Carey Syndrome 10
840 SCH020 Schaap Taylor Baraitser Syndrome 8
841 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
842 MDP002 Mdp Syndrome 7
843 PFF002 Pfeiffer Kapferer Syndrome 6
844 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 5
845 BGT001 Bagatelle Cassidy Syndrome 5
846 WNS001 Weinstein Kliman Scully Syndrome 5
847 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
848 MMN001 Maumenee Syndrome 4
849 IDK001 Iida Kannari Syndrome 4
850 c DFN026 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 3
851 c DFN025 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 3
852 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
853 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
854 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
855 P ATX030 Ataxia-Telangiectasia 80
856 P NRF023 Neurofibromatosis, Type Ii 69
857 c NRF024 Neurofibromatosis, Type I 63
858 P TRC072 Treacher Collins Syndrome 1 61
859 HMF006 Hemifacial Microsomia 58
860 P STC001 Stickler Syndrome 56
861 ALS001 Alstrom Syndrome 55
862 P CNG411 Congenital Disorder of Glycosylation, Type in 55
863 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55
864 ACR013 Acrodysostosis 53
865 c ORF037 Orofaciodigital Syndrome I 51
866 MNR012 Meniere Disease 50
867 P ORF001 Orofaciodigital Syndrome 46
868 c ORF034 Orofaciodigital Syndrome Vi 43
869 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 41
870 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40
871 MXL016 Maxillonasal Dysplasia, Binder Type 39
872 c OTP007 Otopalatodigital Syndrome, Type Ii 38
873 c OTP006 Otopalatodigital Syndrome, Type I 38
874 c STC015 Stickler Syndrome, Type I 36
875 LMB010 Lambert Syndrome 33
876 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 32
877 SPR126 Superior Semicircular Canal Dehiscence 32
878 VST001 Vestibular Neuronitis 32
879 P ADT009 Auditory Neuropathy Spectrum Disorder 32
880 c STC013 Stickler Syndrome, Type Ii 31
881 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 30
882 CNT017 Central Nervous System Origin Vertigo 30
883 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29
884 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 27
885 VST006 Vestibulocochlear Nerve Disease 27
886 c ORF033 Orofaciodigital Syndrome V 27
887 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 26
888 PTR001 Petrositis 25
889 PTL001 Patulous Eustachian Tube 24
890 c ORF036 Orofaciodigital Syndrome Xiv 24
891 c ORF043 Orofaciodigital Syndrome Ix 24
892 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
893 c ORF041 Orofaciodigital Syndrome X 23
894 c ORF045 Orofaciodigital Syndrome Xv 22
895 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
896 c ORF042 Orofaciodigital Syndrome Xi 21
897 ADT002 Auditory System Cancer 21
898 c ORF046 Orofaciodigital Syndrome Xvi 21
899 ERM001 Ermine Phenotype 20
900 PRL021 Perilymphatic Fistula 20
901 c TRC071 Treacher Collins Syndrome 3 19
902 c TRC073 Treacher Collins Syndrome 2 18
903 c ORF006 Orofaciodigital Syndrome 13 14
904 c ORF005 Orofaciodigital Syndrome 12 14
905 c ORF039 Orofaciodigital Syndrome Vii 13
906 NRP028 Neuropathy with Hearing Impairment 5
907 ACT002 Acute Allergic Serous Otitis Media 5
908 ACT025 Acute Allergic Sanguinous Otitis Media 5
909 ACT063 Acute Allergic Mucoid Otitis Media 5
910 CHR629 Charcot-Marie-Tooth Disease and Deafness 43
911 P VHW001 Vohwinkel Syndrome 41
912 c VHW003 Vohwinkel Syndrome, Variant Form 29
913 c OPT053 Optic Atrophy 1 45
914 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 38
915 c OPT068 Optic Atrophy 3, Autosomal Dominant 35
916 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 24
917 c OPT064 Optic Atrophy 11 24
918 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
919 P PRM016 Primary Optic Atrophy 23
920 c OPT023 Optic Atrophy 2 23
921 c OPT060 Optic Atrophy 8 21
922 c OPT065 Optic Atrophy 9 18
923 c OPT025 Optic Atrophy 6 18
924 c OPT024 Optic Atrophy 5 16
925 c OPT059 Optic Atrophy 4 12
926 JHN004 Johnson Neuroectodermal Syndrome 30
927 P ALP074 Alport Syndrome, Autosomal Dominant 47
928 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 18
929 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
930 P PRG013 Paraganglioma 57
931 c PRG018 Paragangliomas 1 57
932 JHN001 Johanson-Blizzard Syndrome 48
933 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40
934 c PRG021 Paragangliomas 4 25
935 c PRG020 Paragangliomas 3 23
936 c PRG019 Paragangliomas 2 22
937 c NNS018 Nonsyndromic Paraganglioma 20
938 c PRG094 Paragangliomas 5 18
939 RNS001 Raine Syndrome 45
940 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 59
941 P LPR002 Leopard Syndrome 56
942 c LPR012 Leopard Syndrome 1 33
943 c LPR007 Leopard Syndrome 3 20
944 c LPR011 Leopard Syndrome 2 18
945 WLF002 Wolf-Hirschhorn Syndrome 54
946 RSD004 Rosai-Dorfman Disease 48
947 P RNL015 Renal Hypertension 46
948 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 38
949 P GNR008 Generalized Resistance to Thyroid Hormone 36
950 c RNL113 Renal Failure, Progressive, with Hypertension 29
951 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 28
952 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 23
953 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
954 KSZ001 Kasznica Carlson Coppedge Syndrome 16
955 DPL003 Diploid-Triploid Mosaicism 15
956 OSS006 Ossicular Malformations, Familial 11
957 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 10
958 VLC001 Velocardiofacial Syndrome 64
959 NRR002 Norrie Disease 61
960 c ORF040 Orofaciodigital Syndrome Viii 53
961 NNN026 Noonan Syndrome with Multiple Lentigines 49
962 P BRN006 Branchiootorenal Syndrome 44
963 c BRN131 Branchiootorenal Syndrome 1 41
964 c ORF035 Orofaciodigital Syndrome Iv 34
965 MHR002 Mohr Syndrome 33
966 BNG018 Benign Paroxysmal Positional Nystagmus 32
967 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 31
968 c ORF038 Orofaciodigital Syndrome Iii 25
969 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 23
970 c BRN086 Branchiootorenal Syndrome 2 18
971 MLG028 Malignant Neoplasm of Acoustic Nerve 9
972 c BRN046 Branchiootorenal Spectrum Disorders 8
973 MNT309 Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 38
974 WDH003 Woodhouse-Sakati Syndrome 47
975 P CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 36
976 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 35
977 P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57
978 P HRD021 Hereditary Sensory Neuropathy 47
979 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 45
980 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
981 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 40
982 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37
983 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 30
984 c SNS009 Sensory Neuropathy Type 1 27
985 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
986 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
987 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 24
988 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 23
989 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 22
990 c NRP039 Neuropathy, Hereditary Sensory, Type Id 21
991 c NRP036 Neuropathy, Hereditary Sensory, Type if 21
992 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 19
993 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 17
994 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
995 DFN299 Deafness-Lymphedema-Leukemia Syndrome 25
996 MRC004 Murcs Association 31
997 MLL009 Mullerian Aplasia 21
998 KRN002 Kearns-Sayre Syndrome 59
999 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 23
1000 TNG006 Tunglang Savage Bellman Syndrome 13
1001 NTH001 Netherton Syndrome 60



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