Ear Diseases Category (1164 diseases)


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

# Family MCID Name MIFTS
1 RNL026 Renal Tubular Acidosis with Deafness 28
2 DBT090 Diabetes and Deafness, Maternally Inherited 35
3 KRT058 Keratoderma, Palmoplantar, with Deafness 25
4 DFN306 Deafness, Conductive, with Malformed External Ear 17
5 c DFN036 Deafness, X-Linked 2 35
6 DFN206 Deafness, Congenital with Inner Ear Agenesis, Microtia, and Microdontia 23
7 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 31
8 SCL046 Scalp-Ear-Nipple Syndrome 32
9 DFN256 Deafness and Myopia 26
10 c DFN097 Deafness, Autosomal Recessive 1a 40
11 CRN142 Corneal Endothelial Dystrophy and Perceptive Deafness 23
12 c DFN262 Deafness, Autosomal Recessive 15 27
13 c DFN268 Deafness, Autosomal Recessive 8/10 26
14 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 10
15 c DFN196 Deafness, Autosomal Dominant 22 40
16 c DFN253 Deafness, Autosomal Recessive 84a 21
17 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 45
18 KRT011 Keratitis-Ichthyosis-Deafness Syndrome 42
19 CTR007 Cataract Ataxia Deafness 8
20 c DFN141 Deafness, Autosomal Recessive 12 42
21 c DFN250 Deafness, Autosomal Recessive 2 40
22 c DFN124 Deafness, Autosomal Recessive 6 37
23 CHL122 Cholesteatoma of Middle Ear 36
24 c DFN103 Deafness, Autosomal Recessive 1b 34
25 c DFN109 Deafness, Autosomal Recessive 36 33
26 c DFN127 Deafness, Autosomal Recessive 7 30
27 CRN048 Craniofacial-Deafness-Hand Syndrome 30
28 c DFN267 Deafness, Autosomal Dominant 4a 21
29 CRD221 Cardiospondylocarpofacial Syndrome 34
30 DFN039 Deafness-Infertility Syndrome 24
31 OCL012 Ocular Albinism with Sensorineural Deafness 22
32 MCR306 Microcephaly-Deafness Syndrome 18
33 SSM001 Sesame Syndrome 54
34 c DFN197 Deafness, Autosomal Recessive 37 41
35 c DFN202 Deafness, Autosomal Dominant 48 39
36 c DFN131 Deafness, Autosomal Dominant 1 38
37 c DFN120 Deafness, Autosomal Recessive 39 34
38 c DFN133 Deafness, Autosomal Recessive 9 34
39 c DFN244 Deafness, Autosomal Recessive 42 28
40 DFN122 Deafness, Mitochondrial, Modifier of 26
41 c DFN247 Deafness, Autosomal Recessive 18a 23
42 DFN308 Deafness, Progressive, with Stapes Fixation 16
43 P XLN110 X-Linked Charcot-Marie-Tooth Disease 40
44 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39
45 c DFN258 Deafness, Autosomal Recessive 48 28
46 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
47 ART057 Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness 12
48 c DFN107 Deafness, Autosomal Dominant 10 41
49 BRT001 Bart-Pumphrey Syndrome 40
50 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39
51 c DFN190 Deafness, Autosomal Dominant 2a 38
52 c DFN092 Deafness, Autosomal Recessive 49 37
53 c DFN143 Deafness, Autosomal Recessive 16 36
54 c DFN112 Deafness, Autosomal Recessive 63 35
55 c DFN137 Deafness, Autosomal Dominant 13 35
56 c DFN093 Deafness, Autosomal Recessive 23 34
57 c DFN189 Deafness, Autosomal Dominant 25 33
58 c DFN094 Deafness, Autosomal Dominant 28 33
59 c DFN130 Deafness, Autosomal Recessive 21 33
60 c DFN128 Deafness, Autosomal Dominant 36 33
61 c DFN139 Deafness, Autosomal Recessive 29 30
62 c DFN121 Deafness, Autosomal Recessive 28 28
63 c DFN138 Deafness, Autosomal Recessive 53 27
64 c DFN159 Deafness, Autosomal Dominant 5 26
65 c DFN170 Deafness, Autosomal Recessive 31 26
66 c DFN132 Deafness, Autosomal Recessive 22 23
67 c DFN098 Deafness, Autosomal Dominant 3a 22
68 c DFN188 Deafness, Autosomal Recessive 61 22
69 c DFN102 Deafness, Autosomal Dominant 3b 21
70 c DFN255 Deafness, Autosomal Dominant 64 21
71 c DFN193 Deafness, Autosomal Dominant 6/14/38 21
72 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 14
73 GPT001 Gupta Patton Syndrome 12
74 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 11
75 c DFN113 Deafness, Autosomal Dominant 20/26 25
76 c DFN201 Deafness, Autosomal Recessive 3 25
77 HYS001 Hystrix-Like Ichthyosis with Deafness 22
78 c DFN251 Deafness, Autosomal Dominant 11 39
79 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 17
80 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 14
81 CDL001 Caudal Appendage Deafness 8
82 c DFN249 Deafness, Autosomal Recessive 93 21
83 RTN187 Retinitis Pigmentosa-Deafness Syndrome 20
84 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 20
85 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 17
86 DFN021 Deafness with Labyrinthine Aplasia Microtia and Microdontia 13
87 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 13
88 ICH005 Ichthyosiform Erythroderma, Corneal Involvement, Deafness 6
89 DFN067 Dfnb 7/11 Nonsyndromic Hearing Loss and Deafness 6
90 MRL003 Morel's Ear 5
91 SNS001 Sensorineural Hearing Loss 54
92 c NNS007 Nonsyndromic Deafness 41
93 c DFN123 Deafness, Autosomal Recessive 79 28
94 c DFN108 Deafness, Autosomal Recessive 77 26
95 c DFN129 Deafness, Autosomal Dominant 8/12 25
96 ALB003 Albinism-Deafness Syndrome 25
97 c DFN135 Deafness, Autosomal Recessive 91 21
98 c BRT034 Bartter Syndrome, Type 2 49
99 P BRT004 Bartter Disease 46
100 c BRT042 Bartter Syndrome, Type 3 45
101 c BRT035 Bartter Syndrome, Type 4a 36
102 c BRT033 Bartter Syndrome, Type 1 35
103 c DFN269 Deafness, Autosomal Recessive 98 30
104 c DFN266 Deafness, Autosomal Dominant 4b 25
105 EPP008 Epiphyseal Dysplasia, Multiple, with Myopia and Deafness 24
106 c DFN278 Deafness, Autosomal Dominant 65 23
107 c ATS338 Autosomal Recessive Nonsyndromic Deafness 8 22
108 c DFN274 Deafness, Autosomal Dominant 56 20
109 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 20
110 c DFN329 Deafness, Autosomal Dominant 66 18
111 c DFN327 Deafness, Autosomal Dominant 70 17
112 BCH001 Beach Ear 17
113 c DFN117 Deafness, Autosomal Dominant 15 36
114 c DFN252 Deafness, Autosomal Recessive 24 36
115 c DFN095 Deafness, Autosomal Recessive 25 34
116 c DFN114 Deafness, Autosomal Recessive 67 34
117 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 33
118 c DFN330 Deafness, Autosomal Recessive 97 31
119 FNT003 Fountain Syndrome 30
120 c DFN116 Deafness, Autosomal Recessive 74 30
121 c DFN181 Deafness, Autosomal Recessive 66 27
122 c DFN155 Deafness, Autosomal Dominant 41 25
123 c DFN263 Deafness, Autosomal Recessive 68 24
124 c DFN284 Deafness, Autosomal Dominant 67 24
125 c DFN134 Deafness, Autosomal Dominant 40 23
126 c DFN265 Deafness, Autosomal Recessive 76 20
127 c DFN283 Deafness, Autosomal Recessive 104 17
128 c DFN336 Deafness, Autosomal Dominant 68 17
129 c DFN326 Deafness, Autosomal Recessive 105 17
130 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 14
131 THC001 Thickened Earlobes with Conductive Deafness from Incus-Stapes Abnormalities 4
132 c DFN203 Deafness, Autosomal Recessive 30 39
133 DNN002 Donnai-Barrow Syndrome 38
134 c DFN200 Deafness, Autosomal Dominant 17 38
135 c DFN174 Deafness, Autosomal Recessive 44 35
136 c DFN192 Deafness, Autosomal Dominant 23 34
137 c DFN136 Deafness, Autosomal Dominant 9 33
138 CHD004 Chudley-Mccullough Syndrome 32
139 c DFN260 Deafness, Autosomal Recessive 89 30
140 ARC008 Auriculo-Condylar Syndrome 30
141 c DFN118 Deafness, Autosomal Dominant 44 29
142 c DFN111 Deafness, Autosomal Recessive 35 28
143 c DFN178 Deafness, Autosomal Recessive 59 28
144 c DFN248 Deafness, Autosomal Recessive 18b 25
145 c DFN147 Deafness, X-Linked 4 22
146 c DFN099 Deafness, Autosomal Dominant 2b 22
147 c DFN275 Deafness , Autosomal Recessive 86 21
148 c DFN254 Deafness, Autosomal Recessive 84b 20
149 c DFN281 Deafness, Autosomal Recessive 103 20
150 c DFN242 Deafness, Autosomal Recessive 70 20
151 c DFN243 Deafness, Autosomal Recessive 88 19
152 c DFN273 Deafness, Autosomal Recessive 101 18
153 c DFN277 Deafness, Autosomal Recessive 102 17
154 P PRR025 Perrault Syndrome 36
155 WRD021 Waardenburg Syndrome/ocular Albinism, Digenic 32
156 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 29
157 c ATS342 Autosomal Dominant Nonsyndromic Deafness 6 28
158 MDD009 Middle Ear Carcinoma 25
159 c PRR024 Perrault Syndrome 3 21
160 c ATS345 Autosomal Dominant Nonsyndromic Deafness 69 21
161 c PRR026 Perrault Syndrome 5 20
162 c PRR021 Perrault Syndrome 4 20
163 DFN282 Deafness, Autosomal Dominant 39, with Dentinogenesis 18
164 c PRR022 Perrault Syndrome 2 18
165 c PRR033 Perrault Syndrome 6 12
166 P MRG008 Meier-Gorlin Syndrome 1 47
167 ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 27
168 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 24
169 c MRG010 Meier-Gorlin Syndrome 3 24
170 c MRG009 Meier-Gorlin Syndrome 2 22
171 c MRG011 Meier-Gorlin Syndrome 4 22
172 c MRG012 Meier-Gorlin Syndrome 5 21
173 c MRG015 Meier-Gorlin Syndrome 7 18
174 c MRG014 Meier-Gorlin Syndrome 6 18
175 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 17
176 RNL112 Renal, Genital, and Middle Ear Anomalies 16
177 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 15
178 DFN014 Deafness Nephritis Anorectal Malformation 13
179 c MRG016 Meier-Gorlin Syndrome 8 11
180 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 11
181 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6
182 c DFN240 Deafness, Autosomal Recessive 96 27
183 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 25
184 c TWN011 Townes-Brocks Syndrome 1 24
185 c DFN119 Deafness, Autosomal Dominant 50 24
186 c PRR020 Perrault Syndrome 1 23
187 c TWN010 Townes-Brocks Syndrome 2 15
188 BRT032 Bartter Syndrome, Type 4b, Digenic 34
189 SPL048 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss 33
190 c DFN151 Deafness, Autosomal Dominant 24 31
191 c DFN183 Deafness, Autosomal Recessive 83 29
192 c DFN184 Deafness, Autosomal Recessive 85 29
193 c DFN148 Deafness, Autosomal Dominant 16 29
194 c DFN029 Deafness, Autosomal Recessive 51 29
195 ATM021 Autoimmune Inner Ear Disease 28
196 c DFN246 Deafness, Autosomal Dominant 51 28
197 c DFN168 Deafness, Autosomal Recessive 26 27
198 c DFN150 Deafness, Autosomal Dominant 21 26
199 c DFN171 Deafness, Autosomal Recessive 33 26
200 c DFN160 Deafness, Autosomal Dominant 52 25
201 c DFN194 Deafness, X-Linked 1 25
202 c DFN163 Deafness, Autosomal Dominant 7 24
203 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 24
204 c DFN154 Deafness, Autosomal Dominant 31 24
205 MDD007 Middle Ear Squamous Cell Carcinoma 22
206 c DFN272 Deafness, Autosomal Dominant 54 22
207 c DFN177 Deafness, Autosomal Recessive 5 22
208 c ATS340 Autosomal Dominant Nonsyndromic Deafness 12 22
209 c DFN158 Deafness, Autosomal Dominant 49 21
210 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 20
211 c DFN167 Deafness, Autosomal Recessive 20 20
212 c DFN261 Deafness, Autosomal Recessive 46 20
213 c DFN161 Deafness, Autosomal Dominant 53 20
214 c DFN173 Deafness, Autosomal Recessive 40 20
215 c DFN166 Deafness, Autosomal Recessive 17 19
216 c DFN169 Deafness, Autosomal Recessive 27 19
217 c DFN180 Deafness, Autosomal Recessive 65 19
218 c DFN149 Deafness, Autosomal Dominant 18 18
219 c DFN241 Deafness, Autosomal Recessive 32 18
220 c DFN271 Deafness, Autosomal Dominant 58 18
221 c DFN164 Deafness, Autosomal Recessive 13 18
222 c DFN257 Deafness, Autosomal Dominant 33 18
223 P XLN004 X-Linked Nonsyndromic Deafness 18
224 c DFN153 Deafness, Autosomal Dominant 30 17
225 c DFN162 Deafness, Autosomal Dominant 59 17
226 c DFN172 Deafness, Autosomal Recessive 38 17
227 c DFN156 Deafness, Autosomal Dominant 43 17
228 c DFN152 Deafness, Autosomal Dominant 27 16
229 c DFN165 Deafness, Autosomal Recessive 14 16
230 c DFN179 Deafness, Autosomal Recessive 62 16
231 c DFN182 Deafness, Autosomal Recessive 71 16
232 c DFN030 Deafness, Autosomal Recessive 55 16
233 c DFN157 Deafness, Autosomal Dominant 47 15
234 c DFN175 Deafness, Autosomal Recessive 45 15
235 EXT023 External Ear Carcinoma 15
236 OLV003 Olivopontocerebellar Atrophy Deafness 14
237 SHR016 Short Stature Deafness Neutrophil Dysfunction 5
238 EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 30
239 BRW009 Brown-Vialetto-Van Laere Syndrome 1 26
240 LYS010 Lysyl Hydroxylase 3 Deficiency 24
241 MDD008 Middle Ear Adenoma 20
242 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 17
243 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 13
244 NTR010 Neutropenia Monocytopenia Deafness 10
245 OPT022 Optic Atrophy 1 and Deafness 10
246 DFN002 Dfnx1 Nonsyndromic Hearing Loss and Deafness 8
247 PLY016 Polyp of Middle Ear 8
248 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 7
249 EXT016 External Ear Squamous Cell Carcinoma 6
250 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 6
251 DFN068 Dfnb 8/10 Nonsyndromic Hearing Loss and Deafness 6
252 DFN220 Dfnx4 Nonsyndromic Hearing Loss and Deafness 6
253 EXT018 External Ear Basal Cell Carcinoma 6
254 SCH028 Schlegelberger Grote Syndrome 5
255 RNL032 Renal Caliceal Diverticuli Deafness 5
256 MCR041 Macrothrombocytopenia Progressive Deafness 4
257 MNT025 Mental Retardation Short Stature Deafness Genital 3
258 ENC015 Enchondromatosis Dwarfism Deafness 3
259 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 28
260 MTC026 Mitochondrial Myopathy with Lactic Acidosis 27
261 c DFN276 Deafness, X-Linked 6 23
262 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 21
263 DFN334 Deafness, Autosomal Dominant 69, Unilateral or Asymmetric 16
264 QST001 Question Mark Ears, Isolated 15
265 ADT003 Auditory System Disease 41
266 GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 35
267 c ATS005 Autosomal Dominant Nonsyndromic Deafness 31
268 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31
269 c ATS341 Autosomal Dominant Nonsyndromic Deafness 20 30
270 c JRV002 Jervell and Lange-Nielsen Syndrome 2 27
271 BRN062 Burn-Mckeown Syndrome 25
272 NTH002 Nathalie Syndrome 25
273 c ATS337 Autosomal Recessive Nonsyndromic Deafness 47 21
274 DFN313 Deafness-Hypogonadism Syndrome 17
275 MDD006 Middle Ear Cholesterol Granuloma 13
276 P DYS154 Dystonia 61
277 MDD010 Middle Ear Disease 48
278 c DYS146 Dystonia 24 46
279 c DYS169 Dystonia-12 43
280 c DYS119 Dystonia 9 35
281 c DYS059 Dystonia 16 33
282 c HRD198 Hereditary Dystonia 30
283 c DYS151 Dystonia 25 27
284 c DYS145 Dystonia 23 26
285 c DYS072 Dystonia 7 26
286 c DYS162 Dystonia, Juvenile-Onset 25
287 c DYS186 Dystonia 2 24
288 CHR506 Choroideremia, Deafness, and Mental Retardation 21
289 c DYS138 Dystonia 21 21
290 c DYS137 Dystonia 4 20
291 c DYS172 Dystonia 27 20
292 ATX037 Ataxia-Deafness-Retardation Syndrome 20
293 P FML056 Familial Deafness 19
294 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 18
295 SPS192 Spastic Paraparesis and Deafness 18
296 BRN125 Branchiogenic-Deafness Syndrome 17
297 GMG001 Gemignani Syndrome 17
298 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 16
299 ARC003 Auricular Cancer 16
300 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 16
301 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 16
302 DFN311 Deafness-Craniofacial Syndrome 16
303 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 15
304 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 15
305 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 14
306 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 14
307 c OTF001 Otof-Related Deafness 13
308 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 11
309 DFN318 Dfnb86 Nonsyndromic Hearing Loss and Deafness 9
310 DFN042 Dfna 3 Nonsyndromic Hearing Loss and Deafness 8
311 DFN046 Dfna 8/12 Nonsyndromic Hearing Loss and Deafness 8
312 DFN040 Dfna 1 Nonsyndromic Hearing Loss and Deafness 7
313 DFN063 Dfnb 1 Nonsyndromic Hearing Loss and Deafness 7
314 DFN319 Dfna69 Nonsyndromic Hearing Loss and Deafness 7
315 NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 7
316 SYN085 Syndromic Sensorineural Deafness Due to Combined Oxidative Phosphorylation Defect 7
317 DFN295 Dfnx6 Nonsyndromic Hearing Loss and Deafness 6
318 GJB001 Gjb2-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness 6
319 GJB002 Gjb2-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness 6
320 GJB005 Gjb6-Related Dfna 3 Nonsyndromic Hearing Loss and Deafness 6
321 GJB006 Gjb6-Related Dfnb 1 Nonsyndromic Hearing Loss and Deafness 6
322 DFN061 Dfna50 Nonsyndromic Hearing Loss and Deafness 6
323 DFN087 Dfnb63 Nonsyndromic Hearing Loss and Deafness 6
324 DFN088 Dfnb67 Nonsyndromic Hearing Loss and Deafness 6
325 DFN089 Dfnb77 Nonsyndromic Hearing Loss and Deafness 6
326 DFN285 Dfnb15 Nonsyndromic Hearing Loss and Deafness 6
327 DFN286 Dfnb25 Nonsyndromic Hearing Loss and Deafness 6
328 DFN315 Dfna 4b Nonsyndromic Hearing Loss and Deafness 6
329 DFN317 Dfna65 Nonsyndromic Hearing Loss and Deafness 6
330 DFN320 Dfnb48 Nonsyndromic Hearing Loss and Deafness 6
331 DFN321 Dfnb53 Nonsyndromic Hearing Loss and Deafness 6
332 DFN322 Dfnb70 Nonsyndromic Hearing Loss and Deafness 6
333 DFN323 Dfnb89 Nonsyndromic Hearing Loss and Deafness 6
334 DFN324 Dfnb93 Nonsyndromic Hearing Loss and Deafness 6
335 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 5
336 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 5
337 DFN287 Dfnb42 Nonsyndromic Hearing Loss and Deafness 5
338 DFN288 Dfnb74 Nonsyndromic Hearing Loss and Deafness 5
339 DFN290 Dfna40 Nonsyndromic Hearing Loss and Deafness 5
340 DFN291 Dfna41 Nonsyndromic Hearing Loss and Deafness 5
341 DFN292 Dfna64 Nonsyndromic Hearing Loss and Deafness 5
342 DFN293 Dfna76 Nonsyndromic Hearing Loss and Deafness 5
343 DFN294 Dfna91 Nonsyndromic Hearing Loss and Deafness 5
344 DFN316 Dfna51 Nonsyndromic Hearing Loss and Deafness 5
345 DFN338 Dfnb84a Nonsyndromic Hearing Loss and Deafness 5
346 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 5
347 HRD108 Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay 5
348 NCR006 Necrosis of Ear Ossicle 4
349 DFN086 Dfnb61 Nonsyndromic Hearing Loss and Deafness 4
350 PST097 Postlingual Non-Syndromic Genetic Deafness 4
351 DFN043 Dfna 4 Nonsyndromic Hearing Loss and Deafness 4
352 DFN044 Dfna 5 Nonsyndromic Hearing Loss and Deafness 4
353 DFN048 Dfna10 Nonsyndromic Hearing Loss and Deafness 4
354 DFN050 Dfna13 Nonsyndromic Hearing Loss and Deafness 4
355 DFN051 Dfna15 Nonsyndromic Hearing Loss and Deafness 4
356 DFN052 Dfna17 Nonsyndromic Hearing Loss and Deafness 4
357 DFN054 Dfna22 Nonsyndromic Hearing Loss and Deafness 4
358 DFN055 Dfna23 Nonsyndromic Hearing Loss and Deafness 4
359 DFN058 Dfna36 Nonsyndromic Hearing Loss and Deafness 4
360 DFN059 Dfna44 Nonsyndromic Hearing Loss and Deafness 4
361 DFN065 Dfnb 3 Nonsyndromic Hearing Loss and Deafness 4
362 DFN066 Dfnb 6 Nonsyndromic Hearing Loss and Deafness 4
363 DFN069 Dfnb12 Nonsyndromic Hearing Loss and Deafness 4
364 DFN070 Dfnb16 Nonsyndromic Hearing Loss and Deafness 4
365 DFN071 Dfnb18 Nonsyndromic Hearing Loss and Deafness 4
366 DFN072 Dfnb21 Nonsyndromic Hearing Loss and Deafness 4
367 DFN073 Dfnb22 Nonsyndromic Hearing Loss and Deafness 4
368 DFN074 Dfnb23 Nonsyndromic Hearing Loss and Deafness 4
369 DFN075 Dfnb24 Nonsyndromic Hearing Loss and Deafness 4
370 DFN076 Dfnb28 Nonsyndromic Hearing Loss and Deafness 4
371 DFN077 Dfnb29 Nonsyndromic Hearing Loss and Deafness 4
372 DFN078 Dfnb30 Nonsyndromic Hearing Loss and Deafness 4
373 DFN080 Dfnb35 Nonsyndromic Hearing Loss and Deafness 4
374 DFN081 Dfnb36 Nonsyndromic Hearing Loss and Deafness 4
375 DFN082 Dfnb37 Nonsyndromic Hearing Loss and Deafness 4
376 DFN083 Dfnb39 Nonsyndromic Hearing Loss and Deafness 4
377 DFN084 Dfnb49 Nonsyndromic Hearing Loss and Deafness 4
378 DFN085 Dfnb59 Nonsyndromic Hearing Loss and Deafness 4
379 DFN219 Dfnb79 Nonsyndromic Hearing Loss and Deafness 4
380 DWR004 Dwarfism Deafness Retinitis Pigmentosa 4
381 PRL044 Prelingual Non-Syndromic Genetic Deafness 4
382 DBT014 Diabetes Hypogonadism Deafness Mental Retardation 3
383 CRD024 Cardiomyopathy Diabetes Deafness 3
384 ART036 Arthritis Short Stature Deafness 3
385 CRN059 Corneal Anesthesia Deafness Mental Retardation 3
386 SCH026 Schizophrenia Mental Retardation Deafness Retinitis 3
387 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 2
388 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 2
389 GLS014 Glossopalatine Ankylosis Micrognathia Ear Anomalies 2
390 CCH003 Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 2
391 ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2
392 CLF016 Cleft Palate Colobomata Radial Synostosis Deafness 2
393 RTN040 Retinis Pigmentosa Deafness Hypogenitalism 2
394 SHR019 Short Stature Microcephaly Seizures Deafness 2
395 OTT002 Otitis Media 65
396 P OTT001 Otitis Externa 46
397 P DNR001 Duane Retraction Syndrome 43
398 P BRN042 Branchiootic Syndrome 41
399 OTM001 Otomycosis 37
400 c BRN108 Branchiootic Syndrome 1 35
401 P ARC016 Auriculocondylar Syndrome 1 34
402 OCL048 Oculoauricular Syndrome 31
403 c MLG042 Malignant Otitis Externa 25
404 c BRN128 Branchiootic Syndrome 3 24
405 CRT007 Cortical Deafness 23
406 c DNR003 Duane Retraction Syndrome 1 22
407 c DNR004 Duane Retraction Syndrome 2 21
408 c ARC011 Auriculocondylar Syndrome 2 21
409 c ARC017 Auriculocondylar Syndrome 3 18
410 SNT004 Sinoatrial Node Dysfunction and Deafness 17
411 c BRN073 Branchiootic Syndrome 2 17
412 c DNR005 Duane Retraction Syndrome 3 15
413 P DST002 Distal Arthrogryposis 57
414 P OTS002 Otospondylomegaepiphyseal Dysplasia 44
415 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 42
416 c ART119 Arthrogryposis, Distal, Type 5 41
417 c ART120 Arthrogryposis, Distal, Type 3 41
418 c ART117 Arthrogryposis, Distal, Type 2b 38
419 c ART061 Arthrogryposis, Distal, Type 2a 34
420 AYM001 Ayme-Gripp Syndrome 32
421 c ATS006 Autosomal Recessive Nonsyndromic Deafness 27
422 c ART104 Arthrogryposis, Distal, Type 5d 24
423 c ART112 Arthrogryposis, Distal, Type 10 22
424 c ART122 Arthrogryposis, Distal, Type 8 22
425 MCR139 Macrothrombocytopenia and Progressive Sensorineural Deafness 21
426 c ART128 Arthrogryposis, Distal, Type 6 20
427 MCR119 Microtia, Hearing Impairment, and Cleft Palate 19
428 c ART060 Arthrogryposis, Distal, Type 1b 19
429 c ART131 Arthrogryposis, Distal, Type 4 18
430 CMM024 Commad Syndrome 17
431 CHL021 Cholesteatoma of External Ear 11
432 SRS002 Serous Glue Ear 10
433 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 9
434 INN002 Inner Ear Disease 48
435 P MLT072 Multiple Synostoses Syndrome 38
436 EXT056 External Ear Disease 38
437 c DFN280 Deafness, Autosomal Recessive 32
438 NNS014 Nonsyndromic Hearing Loss and Deafness 27
439 LCH015 Lichtenstein-Knorr Syndrome 26
440 CNR037 Cone-Rod Dystrophy and Hearing Loss 23
441 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 23
442 c MLT060 Multiple Synostoses Syndrome 2 22
443 c MLT078 Multiple Synostoses Syndrome 3 21
444 DSC001 Discharging Ear 21
445 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 19
446 c HML047 Heimler Syndrome 1 18
447 P HML046 Heimler Syndrome 2 18
448 HYP489 Hypotrichosis-Deafness Syndrome 17
449 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 16
450 DBT019 Diabetes and Hearing Loss 16
451 HRN022 Hearing Loss/deafness 16
452 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 15
453 HRD199 Hereditary Hearing Loss and Deafness 15
454 MDD017 Middle Ear Neuroendocrine Tumor 13
455 CLF043 Cleft Palate, Deafness, and Oligodontia 13
456 c DFN325 Deafness, Autosomal Recessive 108 13
457 c DFN328 Deafness, Autosomal Dominant 72 13
458 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 12
459 c DFN332 Deafness Autosomal Recessive 106 12
460 c DFN333 Deafness, Autosomal Dominant 73 12
461 c DFN335 Deafness, Autosomal Dominant 71 12
462 c DFN337 Deafness, Autosomal Recessive 107 12
463 MYP122 Myopathy, Congenital, with Neuropathy and Deafness 11
464 c DFN186 Deafness, Y-Linked 1 11
465 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 11
466 INN001 Inner Ear Cancer 11
467 c DFN146 Deafness, X-Linked 3 11
468 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 11
469 NPH050 Nephropathy, Progressive, with Deafness 11
470 NNS016 Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 11
471 PND003 Pendred Syndrome/dfnb4 10
472 DFN045 Dfna 6/14/38 Nonsyndromic Hearing Loss and Deafness 8
473 DFN047 Dfna 9 Nonsyndromic Hearing Loss and Deafness 8
474 DFN053 Dfna20/26 Nonsyndromic Hearing Loss and Deafness 8
475 CTR153 Cataract-Deafness-Hypogonadism Syndrome 7
476 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 7
477 DFN056 Dfna25 Nonsyndromic Hearing Loss and Deafness 7
478 HRY009 Hairy Ears, Y-Linked 6
479 DFN041 Dfna 2b Nonsyndromic Hearing Loss and Deafness 6
480 DFN057 Dfna28 Nonsyndromic Hearing Loss and Deafness 6
481 DFN060 Dfna48 Nonsyndromic Hearing Loss and Deafness 6
482 EXT004 External Auditory Meatus Lipoma 6
483 DFN049 Dfna11 Nonsyndromic Hearing Loss and Deafness 6
484 NNS015 Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant 5
485 ISL023 Isolated Congenital Auditory Ossicle Malformation 5
486 DFN185 Deafness, Nonsyndromic, Modifier 1 5
487 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
488 11P001 11p15-P14 Deletion Syndrome 4
489 NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 4
490 DVL015 Developmental Delay-Deafness Syndrome, Hildebrand Type 4
491 MTR037 Mt-Rnr1-Related Hearing Loss and Deafness 4
492 DSL001 Dislocation of Ear Ossicle 4
493 EPT026 Epithelio-Exfoliative Colitis-Deafness Syndrome 4
494 NNS017 Nonsyndromic Hearing Loss and Deafness, X-Linked 4
495 DFN064 Dfnb 2 Nonsyndromic Hearing Loss and Deafness 3
496 DFN079 Dfnb31 Nonsyndromic Hearing Loss and Deafness 3
497 DFN091 Dfnx2 Nonsyndromic Hearing Loss and Deafness 3
498 MTC052 Mt-Co1-Related Hearing Loss and Deafness 3
499 MTT003 Mt-Ts1-Related Hearing Loss and Deafness 3
500 NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 3
501 DFN019 Deafness Progressive Cataract Autosomal Dominant 3
502 DFN008 Deafness Goiter Stippled Epiphyses 2
503 DFN011 Deafness Hypospadias Metacarpal and Metatarsal Syndrome 2
504 DFN013 Deafness Mixed with Perilymphatic Gusher, X-Linked 2
505 DFN022 Deafness X-Linked, Dfn3 2
506 DFN032 Deafness, Isolated, Due to Mitochondrial Transmission 2
507 DFN037 Deafness, X-Linked, Dfn 2
508 SCR034 Secretory Diarrhea Myopathy and Deafness 1
509 ART002 Arts Syndrome 52
510 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
511 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
512 MTN003 Motion Sickness 47
513 c USH035 Usher Syndrome Type 2 45
514 c USH032 Usher Syndrome, Type 2a 45
515 SPP008 Suppurative Otitis Media 44
516 VST004 Vestibular Disease 43
517 c USH008 Usher Syndrome, Type 1d 42
518 c USH034 Usher Syndrome, Type 2d 41
519 c USH007 Usher Syndrome, Type 1c 41
520 MDN005 Mednik Syndrome 41
521 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
522 c USH012 Usher Syndrome, Type 2c 40
523 MCR103 Microtia 39
524 c USH022 Usher Syndrome, Type 1g 38
525 PRP028 Peripheral Vertigo 38
526 P LBY004 Labyrinthitis 37
527 c USH010 Usher Syndrome, Type 1f 37
528 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
529 CHM006 Chime Syndrome 35
530 P OTS001 Otosclerosis 35
531 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
532 CCH001 Cochlear Disease 34
533 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
534 MND025 Mandibulofacial Dysostosis with Alopecia 34
535 c ATS076 Autosomal Recessive Stickler Syndrome 33
536 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
537 TYM001 Tympanosclerosis 32
538 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
539 MST019 Mastoiditis 32
540 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
541 c CNG379 Congenital Disorder of Glycosylation, Type It 31
542 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
543 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
544 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
545 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
546 c CNG188 Congenital Disorder of Glycosylation, Type if 29
547 SPC001 Space Motion Sickness 29
548 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
549 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
550 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
551 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
552 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
553 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
554 c USH030 Usher Syndrome, Type Ik 27
555 c USH031 Usher Syndrome, Type Ij 27
556 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
557 c STC012 Stickler Syndrome, Type Iv 26
558 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
559 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
560 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
561 c USH026 Usher Syndrome Type 3b 26
562 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
563 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
564 PRL001 Purulent Labyrinthitis 26
565 NNS006 Non-Suppurative Otitis Media 25
566 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
567 TYM002 Tympanic Membrane Disease 25
568 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
569 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
570 HYP674 Hyperostosis Cranialis Interna 24
571 c STC011 Stickler Syndrome, Type V 24
572 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
573 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
574 c CHR097 Chronic Purulent Otitis Media 23
575 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
576 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
577 P OTP001 Otopalatodigital Syndrome 22
578 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
579 ADH006 Adhesive Otitis Media 22
580 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
581 STP005 Stapes Ankylosis with Broad Thumb and Toes 21
582 PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 21
583 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
584 c VRL004 Viral Labyrinthitis 21
585 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
586 c OTS005 Otosclerosis 1 20
587 ACT083 Acute Serous Otitis Media 19
588 c STC007 Stickler Syndrome, Type 3 19
589 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
590 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 18
591 CMB063 Combined Oxidative Phosphorylation Deficiency 25 18
592 EST006 Eustachian Tube Disease 17
593 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 17
594 c OTS007 Otosclerosis 3 16
595 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 16
596 TYS007 Tyshchenko Syndrome 15
597 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 15
598 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 15
599 c OTP002 Otopalatodigital Spectrum Disorders 14
600 c USH016 Usher Syndrome Type 1h 13
601 c OTS006 Otosclerosis 2 13
602 c OTS008 Otosclerosis 4 13
603 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 13
604 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 13
605 SRS004 Serous Labyrinthitis 13
606 c OTS012 Otosclerosis 10 13
607 OTS003 Otosalpingitis 12
608 ACT014 Active Vestibular Meniere's Disease 11
609 FCL006 Focal Labyrinthitis 11
610 PRC015 Perichondritis of Auricle 11
611 c CL1002 Col11a2-Related Stickler Syndrome 11
612 ACT015 Active Cochlear Meniere's Disease 11
613 c CL1001 Col11a1-Related Stickler Syndrome 10
614 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 10
615 c OTS010 Otosclerosis 7 10
616 c OTS011 Otosclerosis 8 10
617 c CL2002 Col2a1-Related Stickler Syndrome 10
618 c CL9002 Col9a1-Related Stickler Syndrome 10
619 c CL9004 Col9a2-Related Stickler Syndrome 10
620 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
621 LBY002 Labyrinthine Bilateral Reactive Loss 9
622 ACT044 Acute Infection of Pinna 9
623 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 9
624 MYR001 Myringitis Bullosa Hemorrhagica 9
625 BLD055 Blue Drum Syndrome 8
626 c USH011 Usher Syndrome, Type 2b 8
627 P PRL012 Purulent Acute Otitis Media 8
628 c OTS009 Otosclerosis 5 8
629 P ACT001 Acute Tympanitis 7
630 CHR052 Chronic Fungal Otitis Externa 7
631 TXC006 Toxic Labyrinthitis 7
632 CHR042 Chronic Atticoantral Disease 7
633 CHL020 Cholesteatoma of Attic 7
634 INT027 Internal Auditory Canal Meningioma 6
635 INT036 Internal Auditory Canal Lipoma 6
636 CHR049 Chronic Tubotympanic Suppurative Otitis Media 6
637 c CHR015 Chronic Tympanitis 6
638 c OTS004 Otosclerosis, Familial 6
639 1P3003 1p35.2 Microdeletion Syndrome 6
640 ACT013 Active Cochleovestibular Meniere's Disease 5
641 UNL001 Unilateral Hyperactive Labyrinth 5
642 P ACT045 Acute Eustachian Salpingitis 5
643 c CHR007 Chronic Eustachian Salpingitis 5
644 EXT043 External Auditory Canal Aplasia/hypoplasia 5
645 BLT002 Bilateral Hyperactive Labyrinth 5
646 c CHR041 Chronic Perichondritis of Pinna 5
647 LBY001 Labyrinthine Unilateral Reactive Loss 5
648 BLT004 Bilateral Hypoactive Labyrinth 5
649 ACT082 Acute Sanguinous Otitis Media 5
650 UNL003 Unilateral Hypoactive Labyrinth 4
651 P ACT007 Acute Perichondritis of Pinna 4
652 ATR004 Atrophic Nonflaccid Tympanic Membrane 4
653 ATR006 Atrophic Flaccid Tympanic Membrane 4
654 P TWN003 Townes-Brocks Syndrome 54
655 P WLF004 Wolfram Syndrome 63
656 c WLF009 Wolfram Syndrome 2 46
657 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 26
658 c WLF010 Wolfram Syndrome-Like Disease 18
659 TTZ003 Tietz Albinism-Deafness Syndrome 41
660 P ALP004 Alport Syndrome 70
661 HYP291 Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia 46
662 VHW001 Vohwinkel Syndrome 43
663 BJR001 Bjornstad Syndrome 32
664 P JRV003 Jervell and Lange-Nielsen Syndrome 54
665 c DFN105 Deafness, X-Linked 5 25
666 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 13
667 CWC001 Cowchock Syndrome 37
668 HYP666 Hypoparathyroidism-Deafness-Renal Disease Syndrome 34
669 MCK007 Muckle-Wells Syndrome 63
670 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 41
671 c ZMM002 Zimmermann-Laband Syndrome 1 32
672 P ZMM001 Zimmermann-Laband Syndrome 26
673 c ZMM003 Zimmermann-Laband Syndrome 2 19
674 FBR088 Fibromatosis, Gingival, with Progressive Deafness 19
675 P USH001 Usher Syndrome 54
676 c USH033 Usher Syndrome, Type 3a 44
677 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 25
678 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 18
679 CHR103 Charge Syndrome 65
680 KDS001 Kid Syndrome 57
681 P PND002 Pendred Syndrome 56
682 EPS006 Epstein Syndrome 41
683 SYS006 Say Syndrome 33
684 RBF003 Riboflavin Transporter Deficiency 21
685 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 15
686 MDD004 Middle Ear Adenocarcinoma 12
687 DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 6
688 c FX1001 Foxi1-Related Pendred Syndrome 5
689 c KCN003 Kcnj10-Related Pendred Syndrome 5
690 c SLC012 Slc26a4-Related Pendred Syndrome 5
691 P CCK001 Cockayne Syndrome 62
692 c SPN294 Spinocerebellar Ataxia 1 56
693 P SPN301 Spinocerebellar Ataxia 2 55
694 c SPN293 Spinocerebellar Ataxia 12 52
695 c SPN291 Spinocerebellar Ataxia 7 51
696 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
697 c SPN314 Spinocerebellar Ataxia 10 50
698 c SPN312 Spinocerebellar Ataxia 14 49
699 c SPN296 Spinocerebellar Ataxia 17 47
700 c SPN309 Spinocerebellar Ataxia 6 47
701 c SPN311 Spinocerebellar Ataxia 13 45
702 c SPN305 Spinocerebellar Ataxia 11 44
703 c SPN290 Spinocerebellar Ataxia 15 44
704 c SPN100 Spinocerebellar Ataxia 27 44
705 c SPN308 Spinocerebellar Ataxia 28 44
706 c MCR256 Microphthalmia, Syndromic 9 43
707 c CCK005 Cockayne Syndrome, Type a 42
708 c SPN304 Spinocerebellar Ataxia 8 42
709 c SPN265 Spinocerebellar Ataxia 36 42
710 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
711 c SPN106 Spinocerebellar Ataxia 5 40
712 c CCK006 Cockayne Syndrome, Type B 40
713 c SPN103 Spinocerebellar Ataxia 31 39
714 c MCR261 Microphthalmia, Syndromic 2 38
715 c SPN097 Spinocerebellar Ataxia 23 38
716 c SPN094 Spinocerebellar Ataxia 18 37
717 c MCR263 Microphthalmia, Syndromic 1 37
718 P MCR241 Microphthalmia, Syndromic 3 34
719 c SPN099 Spinocerebellar Ataxia 26 34
720 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
721 c SPN299 Spinocerebellar Ataxia 20 34
722 c SPN096 Spinocerebellar Ataxia 21 33
723 c SPN105 Spinocerebellar Ataxia 4 33
724 c SPN095 Spinocerebellar Ataxia 19 33
725 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
726 c SPN266 Spinocerebellar Ataxia 35 32
727 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
728 c MCR251 Microphthalmia, Syndromic 6 31
729 c SPN104 Spinocerebellar Ataxia 34 30
730 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
731 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
732 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
733 c MCR252 Microphthalmia, Syndromic 5 29
734 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
735 c SPN098 Spinocerebellar Ataxia 25 28
736 c CCK003 Cockayne Syndrome Type Ii 28
737 DFN038 Dfnb1 27
738 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
739 c MCR245 Microphthalmia, Syndromic 8 27
740 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
741 c SPN286 Spinocerebellar Ataxia 40 27
742 RCH002 Richards-Rundle Syndrome 27
743 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
744 c SPN284 Spinocerebellar Ataxia 38 26
745 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
746 c CCK002 Cockayne Syndrome Type I 26
747 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
748 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
749 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
750 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
751 c MCR212 Microphthalmia, Syndromic 12 25
752 c SPN372 Spinocerebellar Ataxia 43 25
753 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
754 c SPN247 Spinocerebellar Ataxia Type 19/22 24
755 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
756 c CCK004 Cockayne Syndrome Type Iii 24
757 c SPN102 Spinocerebellar Ataxia 30 23
758 c SPN283 Spinocerebellar Ataxia 37 23
759 c SPN383 Spinocerebellar Ataxia 42 23
760 c MCR228 Microphthalmia, Syndromic 13 23
761 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
762 c MCR217 Microphthalmia, Syndromic 11 23
763 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
764 c MCR262 Microphthalmia, Syndromic 4 22
765 c SPN323 Spinocerebellar Ataxia 41 20
766 c SPN259 Spinocerebellar Ataxia 32 18
767 c SPN107 Spinocerebellar Ataxia 9 17
768 c SPN336 Spinocerebellar Ataxia Type 16 16
769 c MCR312 Microphthalmia, Syndromic 10 16
770 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
771 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
772 DFN307 Deafness-Oligodontia Syndrome 15
773 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
774 c ERC007 Ercc8-Related Cockayne Syndrome 11
775 c ERC006 Ercc6-Related Cockayne Syndrome 11
776 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
777 c USH006 Usher Syndrome, Type 1b 53
778 DNR002 Duane-Radial Ray Syndrome 49
779 c ALP073 Alport Syndrome, Autosomal Recessive 45
780 SDD008 Sudden Sensorineural Hearing Loss 30
781 ABC001 Abcd Syndrome 30
782 CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 14
783 AYZ001 Ayazi Syndrome 8
784 CNT099 Contractural Arachnodactyly, Congenital 41
785 P SPN202 Spinocerebellar Ataxia, X-Linked 1 30
786 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
787 CRN075 Crandall Syndrome 18
788 c SPN203 Spinocerebellar Ataxia, X-Linked 5 17
789 c SPN363 Spinocerebellar Ataxia, X-Linked 4 16
790 RBF002 Riboflavin Transporter Deficiency Neuronopathy 12
791 c SPN114 Spinocerebellar Ataxia X-Linked Type 2 11
792 RRD001 Reardon Wilson Cavanagh Syndrome 9
793 WLL007 Wells-Jankovic Syndrome 7
794 FTZ004 Fitzsimmons Walson Mellor Syndrome 6
795 c DLT002 Dilated Cardiomyopathy 74
796 P CRD011 Cardiomyopathy 67
797 SKN019 Skin Melanoma 61
798 c CRD093 Cardiomyopathy, Dilated, 1a 58
799 c CRD099 Cardiomyopathy, Dilated, 1e 53
800 c CRD097 Cardiomyopathy, Dilated, 1d 41
801 c CRD104 Cardiomyopathy, Dilated, 1p 41
802 c CRD105 Cardiomyopathy, Dilated, 1o 37
803 c DLT016 Dilated Cardiomyopathy 1b 35
804 c CRD187 Cardiomyopathy, Dilated, 3b 35
805 c CRD101 Cardiomyopathy, Dilated, 1x 28
806 c CRD155 Cardiomyopathy, Dilated, 1kk 28
807 c CRD102 Cardiomyopathy, Dilated, 1j 28
808 c CRD107 Cardiomyopathy, Dilated, 1r 28
809 c CRD091 Cardiomyopathy, Dilated, 1dd 27
810 c CRD063 Cardiomyopathy, Dilated, 2a 27
811 c SCN022 Scn5a-Related Dilated Cardiomyopathy 25
812 c CRD153 Cardiomyopathy, Dilated, 2b 25
813 c MYH009 Myh7-Related Dilated Cardiomyopathy 25
814 c CRD069 Cardiomyopathy, Dilated, 1h 24
815 c CRD080 Cardiomyopathy, Dilated, 1g 24
816 c CRD113 Cardiomyopathy, Dilated, 1v 23
817 c CRD112 Cardiomyopathy, Dilated, 1u 23
818 c CRD162 Cardiomyopathy, Dilated, 1ii 23
819 c CRD090 Cardiomyopathy, Dilated, 1l 23
820 c CRD159 Cardiomyopathy, Dilated, 1hh 23
821 c CRD114 Cardiomyopathy, Dilated, 1m 23
822 c CRD111 Cardiomyopathy, Dilated, 1i 23
823 c CRD149 Cardiomyopathy, Dilated, 1jj 22
824 c CRD115 Cardiomyopathy, Dilated, 1cc 22
825 c CRD108 Cardiomyopathy, Dilated, 1bb 22
826 c CRD173 Cardiomyopathy, Dilated, 1nn 22
827 c CRD092 Cardiomyopathy, Dilated, 1w 21
828 c CRD096 Cardiomyopathy, Dilated, 1ee 21
829 c DLT014 Dilated Cardiomyopathy 1c 21
830 c CRD082 Cardiomyopathy, Dilated, 1gg 21
831 c CRD064 Cardiomyopathy, Dilated, 1ff 21
832 c CRD060 Cardiomyopathy, Dilated, 1z 21
833 DFN007 Deafness Enamel Hypoplasia Nail Defects 20
834 c DLT015 Dilated Cardiomyopathy 1aa 18
835 c DMD004 Dmd-Related Dilated Cardiomyopathy 15
836 c DLT017 Dilated Cardiomyopathy 1t 15
837 c TCP001 Tcap-Related Dilated Cardiomyopathy 14
838 c LMN001 Lmna-Related Dilated Cardiomyopathy 14
839 c RBM001 Rbm20-Related Dilated Cardiomyopathy 14
840 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 14
841 c CRD070 Cardiomyopathy, Dilated, 1k 13
842 c CRD071 Cardiomyopathy, Dilated, 1q 13
843 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 13
844 c FKT001 Fktn-Related Dilated Cardiomyopathy 12
845 c ACT126 Actn2-Related Dilated Cardiomyopathy 11
846 c LDB001 Ldb3-Related Dilated Cardiomyopathy 11
847 c ABC013 Abcc9-Related Dilated Cardiomyopathy 11
848 c EY4001 Eya4-Related Dilated Cardiomyopathy 11
849 c ACT124 Actc1-Related Dilated Cardiomyopathy 11
850 c BG3001 Bag3-Related Dilated Cardiomyopathy 11
851 c CSR004 Csrp3-Related Dilated Cardiomyopathy 11
852 c DSR003 Des-Related Dilated Cardiomyopathy 11
853 c DSG002 Dsg2-Related Dilated Cardiomyopathy 11
854 c MYH007 Myh6-Related Dilated Cardiomyopathy 11
855 c NXN001 Nexn-Related Dilated Cardiomyopathy 11
856 c PLN012 Pln-Related Dilated Cardiomyopathy 11
857 c PRD038 Prdm16-Related Dilated Cardiomyopathy 11
858 c SGC001 Sgcd-Related Dilated Cardiomyopathy 11
859 c TNN010 Tnnt2-Related Dilated Cardiomyopathy 11
860 c VCL003 Vcl-Related Dilated Cardiomyopathy 11
861 c MYP109 Mypn-Related Cardiomyopathy 11
862 c SDH010 Sdha-Related Dilated Cardiomyopathy 10
863 c TNN006 Tnni3-Related Dilated Cardiomyopathy 10
864 c TPM001 Tpm1-Related Dilated Cardiomyopathy 10
865 c TTN004 Ttn-Related Dilated Cardiomyopathy 10
866 c ANK006 Ankrd1-Related Dilated Cardiomyopathy 10
867 c CRY025 Cryab-Related Dilated Cardiomyopathy 9
868 c GTD003 Gatad1-Related Dilated Cardiomyopathy 9
869 c LM4001 Lama4-Related Dilated Cardiomyopathy 9
870 c PSN002 Psen1-Related Dilated Cardiomyopathy 9
871 c PSN003 Psen2-Related Dilated Cardiomyopathy 9
872 c TZR001 Taz-Related Dilated Cardiomyopathy 9
873 c TMP007 Tmpo-Related Dilated Cardiomyopathy 9
874 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 9
875 c CRD027 Cardiomyopathy Due to Anthracyclines 8
876 c MYB002 Mybpc3-Related Dilated Cardiomyopathy 8
877 c TNN003 Tnnc1-Related Dilated Cardiomyopathy 8
878 SNT001 Santos Mateus Leal Syndrome 6
879 FCH003 Fechtner Syndrome 39
880 c MLT059 Multiple Synostoses Syndrome 1 35
881 ABR009 Abruzzo-Erickson Syndrome 32
882 c BRT024 Bartter Syndrome Type 4 18
883 INS024 Insulin-Like Growth Factor I 75
884 MRS002 Marshall Syndrome 50
885 SSC001 Susac Syndrome 32
886 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 27
887 SVR009 Seaver Cassidy Syndrome 17
888 ARC009 Auriculoosteodysplasia 16
889 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 13
890 PHV001 Phaver Syndrome 11
891 VLJ001 Viljoen Kallis Voges Syndrome 9
892 MHS001 Mehes Syndrome 5
893 P KLP003 Klippel-Feil Syndrome 44
894 P CHR102 Charcot-Marie-Tooth Neuropathy 37
895 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 34
896 EMB016 Emberger Syndrome 31
897 c CHR113 Charcot-Marie-Tooth Neuropathy Type 1 29
898 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
899 c CHR316 Charcot-Marie-Tooth Neuropathy X 26
900 c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 25
901 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 25
902 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 23
903 c KLP009 Klippel-Feil Syndrome 2 23
904 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 23
905 c INT144 Intermediate Charcot-Marie-Tooth Neuropathy 20
906 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 19
907 SMS004 Simosa Craniofacial Syndrome 18
908 MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 16
909 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 15
910 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 15
911 XLN128 X-Linked Intellectual Disability, Abidi Type 14
912 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 14
913 c CHR575 Charcot-Marie-Tooth Neuropathy X Type 6 13
914 c CHR303 Charcot-Marie-Tooth Neuropathy Type 2h/2k 13
915 HRR004 Herrmann Syndrome 13
916 c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 12
917 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 11
918 c GDP002 Gdap1-Related Intermediate Charcot-Marie-Tooth Neuropathy 11
919 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
920 c CHR304 Charcot-Marie-Tooth Neuropathy Type 2i/2j 10
921 c CHR318 Charcot-Marie-Tooth Neuropathy X Type 3 10
922 c PRP048 Prps1-Related Charcot-Marie-Tooth Neuropathy X Type 5 9
923 c CHR313 Charcot-Marie-Tooth Neuropathy Type 4f 9
924 c CHR317 Charcot-Marie-Tooth Neuropathy X Type 2 9
925 c KLP015 Klippel-Feil Syndrome 4 9
926 SGL001 Siegler Brewer Carey Syndrome 9
927 c CHR306 Charcot-Marie-Tooth Neuropathy Type 2n 8
928 c CHR302 Charcot-Marie-Tooth Neuropathy Type 2g 8
929 c CHR307 Charcot-Marie-Tooth Neuropathy Type 2o 8
930 c CHR305 Charcot-Marie-Tooth Neuropathy Type 2l 7
931 c KRS002 Kars-Related Intermediate Charcot-Marie-Tooth Neuropathy 7
932 c KLP013 Klippel-Feil Syndrome 3 7
933 MDP002 Mdp Syndrome 7
934 c CHR479 Charcot-Marie-Tooth Neuropathy Type 4b3 7
935 c KLP012 Klippel-Feil Syndrome 1 6
936 c PLK002 Plekhg5-Related Intermediate Charcot-Marie-Tooth Neuropathy C 6
937 WNK001 Winkelman Bethge Pfeiffer Syndrome 6
938 SCH020 Schaap Taylor Baraitser Syndrome 5
939 PFF002 Pfeiffer Kapferer Syndrome 5
940 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 5
941 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 4
942 c DFN025 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 4
943 MMN001 Maumenee Syndrome 4
944 BGT001 Bagatelle Cassidy Syndrome 4
945 RMS002 Ramos Arroyo Clark Syndrome 3
946 WNS001 Weinstein Kliman Scully Syndrome 3
947 DFN009 Deafness Hyperuricemia Neurologic Ataxia 3
948 c DFN026 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 3
949 IDK001 Iida Kannari Syndrome 3
950 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 2
951 DFN018 Deafness Peripheral Neuropathy Arterial Disease 2
952 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 2
953 P NRF018 Neurofibromatosis, Type 1 78
954 P ATX030 Ataxia-Telangiectasia 78
955 MLT077 Multiple Sclerosis, Disease Progression, Modifier of 73
956 c NRF019 Neurofibromatosis, Type 2 62
957 P STC001 Stickler Syndrome 56
958 P WRD001 Waardenburg's Syndrome 56
959 ALS001 Alstrom Syndrome 55
960 P TRC072 Treacher Collins Syndrome 1 54
961 HMF006 Hemifacial Microsomia 54
962 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53
963 c WRD030 Waardenburg Syndrome, Type 1 52
964 ACR013 Acrodysostosis 49
965 MNR002 Meniere's Disease 48
966 P CNG411 Congenital Disorder of Glycosylation, Type in 48
967 c ORF037 Orofaciodigital Syndrome I 48
968 P ORF001 Orofaciodigital Syndrome 45
969 c WRD020 Waardenburg Syndrome, Type 4a 43
970 c ORF034 Orofaciodigital Syndrome Vi 42
971 c OTP007 Otopalatodigital Syndrome, Type Ii 39
972 c OTP006 Otopalatodigital Syndrome, Type I 38
973 LMB010 Lambert Syndrome 38
974 c STC015 Stickler Syndrome, Type I 38
975 c WRD032 Waardenburg Syndrome, Type 2a 36
976 P ADT004 Auditory Neuropathy 35
977 c STC013 Stickler Syndrome, Type Ii 33
978 c CHR374 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 33
979 c WRD031 Waardenburg Syndrome, Type 3 30
980 VST001 Vestibular Neuronitis 30
981 MXL016 Maxillonasal Dysplasia, Binder Type 30
982 PCW002 Pcwh Syndrome 30
983 c WRD024 Waardenburg Syndrome, Type 4c 29
984 c CHR373 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 29
985 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 29
986 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 28
987 c WRD019 Waardenburg Syndrome, Type 4b 28
988 c WRD010 Waardenburg Syndrome Type 4 28
989 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 28
990 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 28
991 ADT002 Auditory System Cancer 26
992 CPS001 Capos Syndrome 25
993 VST006 Vestibulocochlear Nerve Disease 25
994 c TRC071 Treacher Collins Syndrome 3 24
995 c ORF036 Orofaciodigital Syndrome Xiv 24
996 c ORF033 Orofaciodigital Syndrome V 24
997 c TRC073 Treacher Collins Syndrome 2 24
998 SHR073 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 23
999 c WRD022 Waardenburg Syndrome, Type 2d 23
1000 c ORF041 Orofaciodigital Syndrome X 23
1001 PTR001 Petrositis 22
1002 c WRD029 Waardenburg Syndrome, Type 2b 22
1003 PTL001 Patulous Eustachian Tube 22
1004 ACR079 Acrodysostosis with Multiple Hormone Resistance 22
1005 MCR093 Microtia-Anotia 21
1006 c ORF043 Orofaciodigital Syndrome Ix 21
1007 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 21
1008 c ORF042 Orofaciodigital Syndrome Xi 19
1009 c ORF045 Orofaciodigital Syndrome Xv 19
1010 CNT017 Central Nervous System Origin Vertigo 19
1011 c WRD026 Waardenburg Syndrome, Type 2c 18
1012 ERM001 Ermine Phenotype 18
1013 PRL021 Perilymphatic Fistula 17
1014 c ORF046 Orofaciodigital Syndrome Xvi 16
1015 c ORF006 Orofaciodigital Syndrome 13 13
1016 c ORF005 Orofaciodigital Syndrome 12 12
1017 NRP028 Neuropathy with Hearing Impairment 10
1018 c ORF039 Orofaciodigital Syndrome Vii 9
1019 c PLR010 Polr1c-Related Treacher Collins Syndrome 8
1020 ACT002 Acute Allergic Serous Otitis Media 8
1021 ACT063 Acute Allergic Mucoid Otitis Media 8
1022 c PLR011 Polr1d-Related Treacher Collins Syndrome 8
1023 c TCF001 Tcof1-Related Treacher Collins Syndrome 8
1024 ACT025 Acute Allergic Sanguinous Otitis Media 5
1025 P CHR071 Charcot-Marie-Tooth Disease 67
1026 c CHR536 Charcot-Marie-Tooth Disease, Type 1a 58
1027 c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53
1028 c CHR527 Charcot-Marie-Tooth Disease, Type 1b 47
1029 c CHR537 Charcot-Marie-Tooth Disease, Type 1e 46
1030 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
1031 c CHR530 Charcot-Marie-Tooth Disease, Type 2b 42
1032 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 42
1033 c CHR535 Charcot-Marie-Tooth Disease, Type 1c 42
1034 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 41
1035 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 41
1036 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
1037 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 39
1038 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
1039 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 39
1040 c CHR534 Charcot-Marie-Tooth Disease, Type 1d 38
1041 c CHR531 Charcot-Marie-Tooth Disease, Type 2d 36
1042 c CHR533 Charcot-Marie-Tooth Disease, Type 1f 36
1043 c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 34
1044 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
1045 c CHR402 Charcot-Marie-Tooth Disease, Type 2a1 33
1046 c CHR528 Charcot-Marie-Tooth Disease, Type 2j 33
1047 c CHR407 Charcot-Marie-Tooth Disease, Type 4f 32
1048 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
1049 c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31
1050 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
1051 c CHR529 Charcot-Marie-Tooth Disease, Type 2i 30
1052 c CHR485 Charcot-Marie-Tooth Disease, Type 2r 29
1053 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
1054 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 25
1055 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25
1056 c CHR419 Charcot-Marie-Tooth Disease, Recessive Intermediate, B 25
1057 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
1058 c CHR142 Charcot-Marie-Tooth Disease Type 2f 22
1059 c CHR424 Charcot-Marie-Tooth Disease, Recessive Intermediate, a 22
1060 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
1061 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
1062 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
1063 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
1064 c CHR551 Charcot-Marie-Tooth Disease Type 2o 16
1065 c CHR577 Charcot-Marie-Tooth Disease Type 2t 15
1066 c CHR549 Charcot-Marie-Tooth Disease Type 2l 15
1067 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
1068 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
1069 c CHR571 Charcot-Marie-Tooth Disease Type 5 13
1070 c CHR550 Charcot-Marie-Tooth Disease Type 2n 13
1071 c CHR572 Charcot-Marie-Tooth Disease Type 7 13
1072 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
1073 c CHR624 Charcot-Marie-Tooth Disease Type 2b5 12
1074 c CHR553 Charcot-Marie-Tooth Disease Type 2q 11
1075 c ATS362 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w 11
1076 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
1077 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
1078 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
1079 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 8
1080 c OPT053 Optic Atrophy 1 46
1081 P PRM016 Primary Optic Atrophy 31
1082 c OPT057 Optic Atrophy 7 29
1083 c OPT023 Optic Atrophy 2 29
1084 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 29
1085 c OPT065 Optic Atrophy 9 25
1086 c OPT064 Optic Atrophy 11 25
1087 c OPT060 Optic Atrophy 8 24
1088 c OPT025 Optic Atrophy 6 23
1089 c OPT024 Optic Atrophy 5 21
1090 c OPT059 Optic Atrophy 4 17
1091 WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 46
1092 JHN004 Johnson Neuroectodermal Syndrome 28
1093 c ALP074 Alport Syndrome, Autosomal Dominant 44
1094 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 19
1095 FGN001 Feigenbaum Bergeron Richardson Syndrome 7
1096 PRG097 Paragangliomas 1, with or Without Deafness 42
1097 PTT047 Pituitary Hormone Deficiency, Combined, 3 30
1098 RNS001 Raine Syndrome 44
1099 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 57
1100 P LPR002 Leopard Syndrome 54
1101 c LPR012 Leopard Syndrome 1 33
1102 c LPR007 Leopard Syndrome 3 26
1103 c LPR011 Leopard Syndrome 2 25
1104 c PTP001 Ptpn11-Related Leopard Syndrome 11
1105 c RF1001 Raf1-Related Leopard Syndrome 11
1106 c BRF002 Braf-Related Leopard Syndrome 5
1107 c OPT055 Optic Atrophy Plus Syndrome 50
1108 WLF002 Wolf-Hirschhorn Syndrome 50
1109 JHN001 Johanson-Blizzard Syndrome 47
1110 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 33
1111 GNR008 Generalized Resistance to Thyroid Hormone 33
1112 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 24
1113 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
1114 DPL003 Diploid-Triploid Mosaicism 13
1115 KSZ001 Kasznica Carlson Coppedge Syndrome 12
1116 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
1117 OSS006 Ossicular Malformations, Familial 6
1118 DFN034 Deafness, Neurosensory, Autosomal Recessive 47 5
1119 P VLC001 Velocardiofacial Syndrome 64
1120 NRR002 Norrie Disease 62
1121 NNN026 Noonan Syndrome with Multiple Lentigines 50
1122 c ORF040 Orofaciodigital Syndrome Viii 43
1123 P BRN006 Branchiootorenal Syndrome 40
1124 P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 40
1125 MHR002 Mohr Syndrome 31
1126 BNG018 Benign Paroxysmal Positional Nystagmus 30
1127 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 27
1128 c ORF035 Orofaciodigital Syndrome Iv 26
1129 c BRN086 Branchiootorenal Syndrome 2 22
1130 c ORF038 Orofaciodigital Syndrome Iii 22
1131 INF148 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 20
1132 c BRN046 Branchiootorenal Spectrum Disorders 17
1133 MLG028 Malignant Neoplasm of Acoustic Nerve 15
1134 c VLC003 Velocardiofacial Syndrome 2 13
1135 c EY1001 Eya1-Related Branchiootorenal Spectrum Disorders 9
1136 c SX1001 Six1-Related Branchiootorenal Spectrum Disorders 8
1137 c SX5001 Six5-Related Branchiootorenal Spectrum Disorders 8
1138 MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 37
1139 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 46
1140 WDH003 Woodhouse-Sakati Syndrome 47
1141 DMN004 Dementia, Familial Danish 34
1142 P NRP042 Neuropathy, Hereditary Sensory and Autonomic, Type Ii 45
1143 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 40
1144 P NRP041 Neuropathy, Hereditary Sensory, Type Ie 38
1145 c SNS009 Sensory Neuropathy Type 1 30
1146 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 28
1147 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 26
1148 c NRP036 Neuropathy, Hereditary Sensory, Type if 26
1149 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 24
1150 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 23
1151 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 23
1152 c NRP039 Neuropathy, Hereditary Sensory, Type Id 23
1153 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 22
1154 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 17
1155 c HRD195 Hereditary Sensory and Autonomic Neuropathy Type 1e 15
1156 SCH022 Schimke X-Linked Mental Retardation Syndrome 14
1157 c HRD081 Hereditary Sensory and Autonomic Neuropathy Type Iic 12
1158 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
1159 DFN299 Deafness-Lymphedema-Leukemia Syndrome 10
1160 MRC004 Murcs Association 31
1161 MLL009 Mullerian Aplasia 19
1162 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 21
1163 TNG006 Tunglang Savage Bellman Syndrome 12
1164 NSY001 N Syndrome 44



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