Ear Diseases Category (945 diseases)


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

# Family MCID Name MIFTS
1 KRT058 Keratoderma, Palmoplantar, with Deafness 27
2 c DFN036 Deafness, X-Linked 2 36
3 DFN358 Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 28
4 DFN306 Deafness, Conductive, with Malformed External Ear 19
5 SCL046 Scalp-Ear-Nipple Syndrome 36
6 DFN256 Deafness and Myopia 26
7 CRN045 Corneal Dystrophy and Perceptive Deafness 27
8 P ATS254 Autosomal Dominant Deafness-Onychodystrophy Syndrome 15
9 DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 50
10 c ALB025 Albinism, Ocular, with Late-Onset Sensorineural Deafness 37
11 CHL122 Cholesteatoma of Middle Ear 55
12 KRT028 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 36
13 DFN039 Deafness-Infertility Syndrome 24
14 DFN356 Deafness, Autosomal Recessive 36, with or Without Vestibular Involvement 18
15 CTR007 Cataract Ataxia Deafness 8
16 CRN048 Craniofacial-Deafness-Hand Syndrome 29
17 CRD221 Cardiospondylocarpofacial Syndrome 44
18 MCR306 Microcephaly-Deafness Syndrome 19
19 DFN350 Deafness, Aminoglycoside-Induced 27
20 YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 57
21 DFN021 Deafness with Labyrinthine Aplasia Microtia and Microdontia 13
22 DFN308 Deafness, Progressive, with Stapes Fixation 17
23 P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 29
24 MCR337 Microtia with Meatal Atresia and Conductive Deafness 18
25 ART057 Arthrogryposis-Like Hand Anomaly and Sensorineural Deafness 9
26 KNC004 Knuckle Pads, Leukonychia, and Sensorineural Deafness 40
27 WLL032 Woolly Hair, Hypotrichosis, Everted Lower Lip, and Outstanding Ears 18
28 ICH075 Ichthyosiform Erythroderma, Corneal Involvement, and Deafness 17
29 DFN310 Deafness, Conductive Stapedial, with Ear Malformation and Facial Palsy 15
30 KNC001 Knuckle Pads, Leuconychia and Sensorineural Deafness 12
31 CHD004 Chudley-Mccullough Syndrome 38
32 P ALB003 Albinism-Deafness Syndrome 29
33 ICH035 Ichthyosis, Hystrix-Like, with Deafness 19
34 MCK007 Muckle-Wells Syndrome 62
35 P ALB023 Albinism, Ocular, with Sensorineural Deafness 32
36 NPH023 Nephropathy, Deafness, and Hyperparathyroidism 20
37 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 18
38 DF1001 Deaf1-Associated Disorders 11
39 CDL001 Caudal Appendage Deafness 10
40 MRL003 Morel's Ear 5
41 RTN187 Retinitis Pigmentosa-Deafness Syndrome 45
42 c DFN105 Deafness, X-Linked 5 25
43 PHC009 Phocomelia Ectrodactyly Deafness Sinus Arrhythmia 6
44 P SNS001 Sensorineural Hearing Loss 58
45 c NNS013 Nonsyndromic Hereditary Sensorineural Hearing Loss 3
46 P PRR025 Perrault Syndrome 36
47 EPP022 Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 26
48 RTN215 Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome 17
49 BCH001 Beach Ear 8
50 P MRG008 Meier-Gorlin Syndrome 1 54
51 c MRG015 Meier-Gorlin Syndrome 7 26
52 c MRG010 Meier-Gorlin Syndrome 3 25
53 c MRG009 Meier-Gorlin Syndrome 2 21
54 c MRG011 Meier-Gorlin Syndrome 4 21
55 c MRG014 Meier-Gorlin Syndrome 6 21
56 c MRG012 Meier-Gorlin Syndrome 5 20
57 NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 19
58 c MRG016 Meier-Gorlin Syndrome 8 17
59 MYC074 Myoclonus, Cerebellar Ataxia, and Deafness 17
60 DFN014 Deafness Nephritis Anorectal Malformation 14
61 THC001 Thickened Earlobes with Conductive Deafness from Incus-Stapes Abnormalities 5
62 DNN002 Donnai-Barrow Syndrome 55
63 MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 54
64 c PRR020 Perrault Syndrome 1 33
65 ARC008 Auriculo-Condylar Syndrome 33
66 CHR103 Charge Syndrome 64
67 SPL068 Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive 34
68 c BRT056 Bartter Syndrome, Type 4b, Neonatal, with Sensorineural Deafness 34
69 MDD009 Middle Ear Carcinoma 29
70 RTN104 Retinitis Pigmentosa, X-Linked, and Sinorespiratory Infections, with or Without Deafness 17
71 DFN355 Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1 17
72 DFN363 Deafness, Autosomal Recessive 26, Modifier of 11
73 ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 29
74 RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 21
75 CTR155 Cataract-Ataxia-Deafness-Retardation Syndrome 19
76 ECT088 Ectodermal Dysplasia and Neurosensory Deafness 18
77 RNL112 Renal, Genital, and Middle Ear Anomalies 17
78 MTC106 Mitochondrial Non-Syndromic Sensorineural Deafness 16
79 XLN174 X-Linked Non-Syndromic Sensorineural Deafness Type Dfn 12
80 CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 6
81 MCR041 Macrothrombocytopenia Progressive Deafness 5
82 c TWN011 Townes-Brocks Syndrome 1 28
83 c DFN331 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 24
84 CNZ008 Coenzyme Q10 Deficiency, Primary, 6 21
85 c DFN276 Deafness, X-Linked 6 20
86 QST001 Question Mark Ears, Isolated 19
87 c ATM021 Autoimmune Inner Ear Disease 41
88 MDD008 Middle Ear Adenoma 29
89 P SPN202 Spinocerebellar Ataxia, X-Linked 1 28
90 MDD007 Middle Ear Squamous Cell Carcinoma 25
91 c SPN364 Spinocerebellar Ataxia, X-Linked 3 23
92 c SPN363 Spinocerebellar Ataxia, X-Linked 4 19
93 c SPN203 Spinocerebellar Ataxia, X-Linked 5 19
94 EXT023 External Ear Carcinoma 19
95 CRN075 Crandall Syndrome 18
96 c SPN403 Spinocerebellar Ataxia, X-Linked 2 15
97 OLV003 Olivopontocerebellar Atrophy Deafness 14
98 EXT016 External Ear Squamous Cell Carcinoma 10
99 SHR016 Short Stature Deafness Neutrophil Dysfunction 6
100 P INN002 Inner Ear Disease 51
101 MDD010 Middle Ear Disease 50
102 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 41
103 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 29
104 c BRW009 Brown-Vialetto-Van Laere Syndrome 1 28
105 BNF003 Bone Fragility with Contractures, Arterial Rupture, and Deafness 22
106 PHC016 Phocomelia-Ectrodactyly, Ear Malformation, Deafness, and Sinus Arrhythmia 20
107 MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 19
108 ERP001 Ear Pits, Posterior Helical 13
109 ARC003 Auricular Cancer 11
110 RNL032 Renal Caliceal Diverticuli Deafness 11
111 NTR010 Neutropenia Monocytopenia Deafness 11
112 EXT018 External Ear Basal Cell Carcinoma 11
113 PLY016 Polyp of Middle Ear 10
114 GPT001 Gupta Patton Syndrome 9
115 CNG490 Congenital Hereditary Facial Paralysis-Variable Hearing Loss Syndrome 8
116 SCH028 Schlegelberger Grote Syndrome 7
117 XLN075 X-Linked Hereditary Sensory and Autonomic Neuropathy with Deafness 5
118 ENC015 Enchondromatosis Dwarfism Deafness 3
119 MTC026 Mitochondrial Myopathy with Lactic Acidosis 29
120 P DFN349 Deafness, Nonsyndromic Sensorineural, Mitochondrial 27
121 CMB084 Combined Oxidative Phosphorylation Deficiency 34 23
122 SNT004 Sinoatrial Node Dysfunction and Deafness 19
123 ADT003 Auditory System Disease 46
124 AYM001 Ayme-Gripp Syndrome 40
125 ABR009 Abruzzo-Erickson Syndrome 36
126 BRN062 Burn-Mckeown Syndrome 30
127 BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 26
128 c JRV002 Jervell and Lange-Nielsen Syndrome 2 26
129 DFN313 Deafness-Hypogonadism Syndrome 24
130 c PRR024 Perrault Syndrome 3 22
131 TND007 Tune Deafness 20
132 DFN366 Deafness, Autosomal Recessive 32, with or Without Immotile Sperm 17
133 MDD006 Middle Ear Cholesterol Granuloma 13
134 MTP027 Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome 4
135 OTT002 Otitis Media 68
136 P DYS154 Dystonia 65
137 c DYS056 Dystonia 12 54
138 c DYS119 Dystonia 9 45
139 ERM002 Ear Malformation 38
140 OCL048 Oculoauricular Syndrome 33
141 EXT056 External Ear Disease 32
142 CHR506 Choroideremia, Deafness, and Mental Retardation 24
143 DFN341 Deafness, Unilateral 24
144 APC009 Apocrine Gland Secretion, Variation in 23
145 NNS044 Non-Syndromic Genetic Deafness 23
146 c DYS151 Dystonia 25 23
147 ATX037 Ataxia-Deafness-Retardation Syndrome 23
148 HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 22
149 CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 21
150 BRN125 Branchiogenic-Deafness Syndrome 20
151 ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 19
152 SPS192 Spastic Paraparesis and Deafness 19
153 PHT013 Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, and Cerebral Dysfunction 19
154 HRS039 Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 18
155 GRW034 Growth Retardation, Deafness, Femoral Epiphyseal Dysplasia, and Lacrimal Duct Obstruction 18
156 DFN311 Deafness-Craniofacial Syndrome 17
157 THM020 Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 16
158 SPN345 Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 16
159 ERL045 Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities 14
160 ERX001 Ear Exostoses 11
161 CRN284 Corneal Degeneration, Ribbonlike, with Deafness 9
162 c DFN028 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 7
163 ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 7
164 OST145 Osteochondrodysplatic Nanism-Deafness-Retinitis Pigmentosa Syndrome 6
165 APH013 Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome 6
166 SCR042 Secretory Diarrhea, Myopathy, and Deafness 5
167 LTR010 Lateral Semicircular Canal Malformation, Familial, with External and Middle Ear Abnormalities 5
168 HRD108 Hereditary Sensory and Autonomic Neuropathy with Deafness and Global Delay 5
169 NCR006 Necrosis of Ear Ossicle 5
170 PRL044 Prelingual Non-Syndromic Genetic Deafness 4
171 PST097 Postlingual Non-Syndromic Genetic Deafness 4
172 OPT022 Optic Atrophy 1 and Deafness 3
173 OPT027 Optic Atrophy Opthalmoplegia Ptosis Deafness Myopia 3
174 CCH003 Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 3
175 DWR004 Dwarfism Deafness Retinitis Pigmentosa 3
176 CRD024 Cardiomyopathy Diabetes Deafness 3
177 GLS014 Glossopalatine Ankylosis Micrognathia Ear Anomalies 2
178 CLF016 Cleft Palate Colobomata Radial Synostosis Deafness 2
179 RTN040 Retinis Pigmentosa Deafness Hypogenitalism 2
180 SHR019 Short Stature Microcephaly Seizures Deafness 2
181 P OTT001 Otitis Externa 51
182 c BRN108 Branchiootic Syndrome 1 45
183 P ARC016 Auriculocondylar Syndrome 1 41
184 OTM001 Otomycosis 40
185 c MLG042 Malignant Otitis Externa 29
186 ADH006 Adhesive Otitis Media 26
187 CRT007 Cortical Deafness 20
188 DFN362 Deafness, Autosomal Dominant 34, with or Without Inflammation 19
189 DNR006 Duane Retraction Syndrome 3 with or Without Deafness 15
190 LBR032 Leber Congenital Amaurosis with Early-Onset Deafness 13
191 SRS002 Serous Glue Ear 6
192 AGR019 Age-Related Hearing Loss 38
193 ATM008 Autoimmune Disease of Eyes, Ear, Nose and Throat 35
194 CLB033 Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 23
195 MCR119 Microtia, Hearing Impairment, and Cleft Palate 21
196 DFN191 Deafness, Congenital Heart Defects, and Posterior Embryotoxon 13
197 CHL021 Cholesteatoma of External Ear 12
198 RYN005 Raynaud Phenomenon 51
199 c USH039 Usher Syndrome, Type Ic 46
200 P MLT072 Multiple Synostoses Syndrome 46
201 VST004 Vestibular Disease 43
202 c USH040 Usher Syndrome, Type Id 42
203 c USH020 Usher Syndrome, Type Iic 41
204 P NNN028 Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 35
205 CNR037 Cone-Rod Dystrophy and Hearing Loss 25
206 c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 23
207 SHR112 Short Stature, Hearing Loss, Retinitis Pigmentosa, and Distinctive Facies 22
208 INF164 Infantile Bartter Syndrome with Sensorineural Deafness 21
209 LCH015 Lichtenstein-Knorr Syndrome 21
210 SPC024 Speech Development, Delayed, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 20
211 c HML047 Heimler Syndrome 1 19
212 HYP489 Hypotrichosis-Deafness Syndrome 19
213 AXN011 Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities 19
214 VTR017 Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 18
215 P HML046 Heimler Syndrome 2 18
216 DSC001 Discharging Ear 18
217 DFN300 Deafness-Genital Anomalies-Metacarpal and Metatarsal Synostosis Syndrome 17
218 c MLT166 Multiple Synostoses Syndrome 4 17
219 PRR015 Preauricular Fistulae, Congenital 17
220 HYP494 Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome 17
221 WLF014 Wolfram Syndrome, Mitochondrial Form 16
222 HMZ004 Homozygous 11p15-P14 Deletion Syndrome 15
223 EHL082 Ehlers-Danlos Syndrome, Beasley-Cohen Type 15
224 CLF043 Cleft Palate, Deafness, and Oligodontia 14
225 SHR090 Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome 13
226 SPN413 Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 13
227 c DFN345 Deafness, Congenital, with Total Albinism 12
228 DFN340 Deafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease 12
229 DFN145 Deafness, Cataract, Retinitis Pigmentosa, and Sperm Abnormalities 12
230 INT036 Internal Auditory Canal Lipoma 12
231 CLF038 Cleft Lip/palate-Deafness-Sacral Lipoma Syndrome 12
232 HYP738 Hyperlipoproteinemia, Type Ii, and Deafness 11
233 ATX044 Ataxia, Deafness, and Cardiomyopathy 11
234 PRN067 Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 11
235 MDD017 Middle Ear Neuroendocrine Tumor 11
236 DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 11
237 CRB178 Cerebellar Ataxia and Neurosensory Deafness 11
238 FRD011 Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 10
239 HRD199 Hereditary Hearing Loss and Deafness 10
240 OSS016 Ossified Ear Cartilages 10
241 DFN347 Deafness, Neural, with Atypical Atopic Dermatitis 10
242 EPP023 Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 9
243 OST161 Osteoma of Middle Ear 9
244 CTR153 Cataract-Deafness-Hypogonadism Syndrome 9
245 RTN205 Retinitis Pigmentosa Inversa with Deafness 9
246 PLM166 Pulmonic Stenosis and Deafness 8
247 ATR086 Atresia of External Auditory Canal and Conductive Deafness 8
248 NPH050 Nephropathy, Progressive, with Deafness 8
249 TBB007 Tibia, Absence of, with Congenital Deafness 8
250 DFN359 Deafness, Unilateral, with Delayed Endolymphatic Hydrops 8
251 HRY009 Hairy Ears, Y-Linked 8
252 c DFN348 Deafness, Sensorineural, Autosomal-Mitochondrial Type 8
253 EXC005 Exchondrosis of Pinna, Posterior 8
254 DFN339 Deafness, Mid-Tone Neural 7
255 FLS002 Flushing of Ears and Somnolence 7
256 ERF003 Ear Folding 7
257 DFN342 Deafness with Anhidrotic Ectodermal Dysplasia 7
258 ERR001 Earring Holes, Natural 7
259 DSL004 Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 7
260 ERS003 Ears, Ability to Move 7
261 DFN346 Deafness, Neural, Congenital Moderate 7
262 ERW002 Ear Without Helix 6
263 ERN001 Ear Antitragus, Tag at Base of 6
264 EXT004 External Auditory Meatus Lipoma 6
265 ERF002 Ear Flare 6
266 MYC082 Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 6
267 DYS177 Dysmorphism-Short Stature-Deafness-Disorder of Sex Development Syndrome 6
268 RDC015 Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 5
269 ISL023 Isolated Congenital Auditory Ossicle Malformation 5
270 INN001 Inner Ear Cancer 5
271 CNT103 Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome 5
272 EMP013 Emphysema, Congenital, with Deafness, Penoscrotal Web, and Mental Retardation 5
273 DVL015 Developmental Delay-Deafness Syndrome, Hildebrand Type 5
274 NNS009 Nonsyndromic Hearing Loss and Deafness, Dfnb1 4
275 BRC117 Brachydactyly, Intraventricular Septal Defect, and Deafness 4
276 DSL001 Dislocation of Ear Ossicle 4
277 DFN002 Dfnx1 Nonsyndromic Hearing Loss and Deafness 3
278 NNS010 Nonsyndromic Hearing Loss and Deafness, Mitochondrial 3
279 NNS008 Nonsyndromic Hearing Loss and Deafness, Dfna3 3
280 DFN013 Deafness Mixed with Perilymphatic Gusher, X-Linked 2
281 DFN032 Deafness, Isolated, Due to Mitochondrial Transmission 2
282 DFN008 Deafness Goiter Stippled Epiphyses 2
283 DFN022 Deafness X-Linked, Dfn3 2
284 DFN019 Deafness Progressive Cataract Autosomal Dominant 2
285 DFN011 Deafness Hypospadias Metacarpal and Metatarsal Syndrome 2
286 DFN037 Deafness, X-Linked, Dfn 2
287 P ATX030 Ataxia-Telangiectasia 84
288 P NRF023 Neurofibromatosis, Type Ii 75
289 P CCK001 Cockayne Syndrome 65
290 NRR002 Norrie Disease 62
291 P WLF004 Wolfram Syndrome 61
292 c NNN010 Noonan Syndrome 3 59
293 NTH001 Netherton Syndrome 59
294 c WLF013 Wolfram Syndrome 1 56
295 MTN003 Motion Sickness 55
296 c WRD033 Waardenburg Syndrome, Type 2e 54
297 ART002 Arts Syndrome 54
298 P OTS001 Otosclerosis 53
299 SPP008 Suppurative Otitis Media 51
300 SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 51
301 c CCK007 Cockayne Syndrome B 51
302 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
303 c NNN012 Noonan Syndrome 5 48
304 c WRD020 Waardenburg Syndrome, Type 4a 48
305 c USH021 Usher Syndrome, Type Iid 47
306 c WRD019 Waardenburg Syndrome, Type 4b 46
307 c WRD031 Waardenburg Syndrome, Type 3 46
308 c USH035 Usher Syndrome Type 2 46
309 DBT090 Diabetes and Deafness, Maternally Inherited 45
310 c ATX040 Ataxia-Telangiectasia-Like Disorder 1 45
311 c OTP007 Otopalatodigital Syndrome, Type Ii 45
312 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
313 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
314 MNT317 Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, and Keratoderma 43
315 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 43
316 c DYS146 Dystonia 24 43
317 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
318 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
319 TYM001 Tympanosclerosis 41
320 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
321 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 41
322 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
323 c USH041 Usher Syndrome, Type if 40
324 c NNN011 Noonan Syndrome 4 40
325 MCR103 Microtia 39
326 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
327 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
328 c NNN013 Noonan Syndrome 6 39
329 PRP028 Peripheral Vertigo 39
330 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
331 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
332 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
333 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
334 c USH042 Usher Syndrome, Type Ig 37
335 MND025 Mandibulofacial Dysostosis with Alopecia 37
336 WRS002 Warsaw Breakage Syndrome 37
337 c WRD024 Waardenburg Syndrome, Type 4c 37
338 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
339 c CNG188 Congenital Disorder of Glycosylation, Type if 36
340 c NNN021 Noonan Syndrome 8 36
341 c ATS076 Autosomal Recessive Stickler Syndrome 36
342 c NNN024 Noonan Syndrome 9 36
343 CRB142 Cerebellar Ataxia, Deafness, and Narcolepsy, Autosomal Dominant 36
344 c CNG379 Congenital Disorder of Glycosylation, Type It 35
345 P LBY004 Labyrinthitis 35
346 SPR006 Sparganosis 35
347 MST019 Mastoiditis 34
348 PRL001 Purulent Labyrinthitis 34
349 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
350 SPC001 Space Motion Sickness 33
351 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
352 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
353 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
354 CLB017 Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome 32
355 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
356 ARL004 Aural Atresia, Congenital 32
357 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
358 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
359 c NNN025 Noonan Syndrome 10 31
360 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
361 DRG025 Drug-Induced Hearing Loss 31
362 c OTS005 Otosclerosis 1 30
363 c USH031 Usher Syndrome, Type Ij 30
364 MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 30
365 c ART104 Arthrogryposis, Distal, Type 5d 29
366 c USH030 Usher Syndrome, Type Ik 29
367 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
368 c NNN020 Noonan Syndrome 7 29
369 CCH001 Cochlear Disease 29
370 c CHR097 Chronic Purulent Otitis Media 29
371 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
372 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
373 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
374 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
375 EXT059 External Auditory Canal, Bilateral Atresia of, with Congenital Vertical Talus 27
376 c ART122 Arthrogryposis, Distal, Type 8 27
377 NNS006 Non-Suppurative Otitis Media 27
378 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
379 c PRR026 Perrault Syndrome 5 26
380 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
381 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 25
382 c OTF003 Otofaciocervical Syndrome 2 24
383 c DYS145 Dystonia 23 24
384 FNT003 Fountain Syndrome 24
385 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 24
386 c ART131 Arthrogryposis, Distal, Type 4 24
387 c BRW008 Brown-Vialetto-Van Laere Syndrome 2 24
388 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 23
389 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 23
390 c WRD022 Waardenburg Syndrome, Type 2d 23
391 c DYS138 Dystonia 21 23
392 c DYS172 Dystonia 27 22
393 c TRC073 Treacher Collins Syndrome 2 22
394 MND027 Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 22
395 TYM002 Tympanic Membrane Disease 22
396 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 21
397 c PRR021 Perrault Syndrome 4 21
398 c STC012 Stickler Syndrome, Type Iv 21
399 SWN003 Sweeney-Cox Syndrome 21
400 c STC011 Stickler Syndrome, Type V 20
401 NTH002 Nathalie Syndrome 20
402 c ARC011 Auriculocondylar Syndrome 2 20
403 c ART060 Arthrogryposis, Distal, Type 1b 20
404 c TWN010 Townes-Brocks Syndrome 2 20
405 LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 20
406 c USH043 Usher Syndrome, Type Ih 20
407 c BRN128 Branchiootic Syndrome 3 19
408 CMB063 Combined Oxidative Phosphorylation Deficiency 25 19
409 c MLT078 Multiple Synostoses Syndrome 3 19
410 c PRR022 Perrault Syndrome 2 18
411 c WRD026 Waardenburg Syndrome, Type 2c 18
412 c ARC017 Auriculocondylar Syndrome 3 18
413 c PRR033 Perrault Syndrome 6 18
414 SPL059 Split-Foot Malformation with Mesoaxial Polydactyly 18
415 EST006 Eustachian Tube Disease 17
416 SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 17
417 c OTS007 Otosclerosis 3 17
418 TYS007 Tyshchenko Syndrome 17
419 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 16
420 c BRN073 Branchiootic Syndrome 2 16
421 c OTS012 Otosclerosis 10 16
422 c OTS010 Otosclerosis 7 16
423 P OTP002 Otopalatodigital Spectrum Disorders 15
424 c OTS011 Otosclerosis 8 15
425 c OTS008 Otosclerosis 4 14
426 ATS292 Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 14
427 CCH006 Cochleosaccular Degeneration with Progressive Cataracts 14
428 c OTS006 Otosclerosis 2 14
429 MYR001 Myringitis Bullosa Hemorrhagica 13
430 SRS004 Serous Labyrinthitis 13
431 INT027 Internal Auditory Canal Meningioma 13
432 OTS003 Otosalpingitis 13
433 ACT083 Acute Serous Otitis Media 12
434 c USH045 Usher Syndrome, Type Iv 12
435 P PRL012 Purulent Acute Otitis Media 12
436 c OTS009 Otosclerosis 5 11
437 DNT049 Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome 11
438 c USH011 Usher Syndrome, Type 2b 11
439 SNS024 Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome 10
440 PRC015 Perichondritis of Auricle 10
441 c KMT002 Kmt2b-Related Dystonia 10
442 FCL006 Focal Labyrinthitis 10
443 CLF055 Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome 10
444 P ACT001 Acute Tympanitis 9
445 TXC006 Toxic Labyrinthitis 8
446 CHR042 Chronic Atticoantral Disease 7
447 c CHR015 Chronic Tympanitis 6
448 CHL020 Cholesteatoma of Attic 6
449 1P3003 1p35.2 Microdeletion Syndrome 6
450 BLD055 Blue Drum Syndrome 6
451 CCH007 Cochleovestibular Dysplasia 6
452 P ACT045 Acute Eustachian Salpingitis 6
453 CHR049 Chronic Tubotympanic Suppurative Otitis Media 6
454 EXT043 External Auditory Canal Aplasia/hypoplasia 6
455 ACT015 Active Cochlear Meniere's Disease 6
456 ACT013 Active Cochleovestibular Meniere's Disease 6
457 ACT014 Active Vestibular Meniere's Disease 6
458 c CHR007 Chronic Eustachian Salpingitis 6
459 UNL001 Unilateral Hyperactive Labyrinth 5
460 c CHR041 Chronic Perichondritis of Pinna 5
461 c BRN138 Branchiootorenal Spectrum Disorder 5
462 LBY002 Labyrinthine Bilateral Reactive Loss 5
463 BLT004 Bilateral Hypoactive Labyrinth 5
464 LBY001 Labyrinthine Unilateral Reactive Loss 5
465 ACT082 Acute Sanguinous Otitis Media 5
466 BLT002 Bilateral Hyperactive Labyrinth 5
467 c OTS004 Otosclerosis, Familial 5
468 CHR052 Chronic Fungal Otitis Externa 5
469 P ACT007 Acute Perichondritis of Pinna 4
470 UNL003 Unilateral Hypoactive Labyrinth 4
471 ACT044 Acute Infection of Pinna 4
472 XLN226 X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome 4
473 ATR006 Atrophic Flaccid Tympanic Membrane 4
474 ATR004 Atrophic Nonflaccid Tympanic Membrane 4
475 HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 55
476 P TWN003 Townes-Brocks Syndrome 55
477 CWC001 Cowchock Syndrome 37
478 TTZ003 Tietz Albinism-Deafness Syndrome 50
479 ALP046 Alport Syndrome, X-Linked 74
480 MCR359 Macrothrombocytopenia and Granulocyte Inclusions with or Without Nephritis or Sensorineural Hearing Loss 41
481 P JRV004 Jervell and Lange-Nielsen Syndrome 1 55
482 NPH082 Nephrosis with Deafness and Urinary Tract and Digital Malformations 16
483 KDS001 Kid Syndrome 44
484 BJR001 Bjornstad Syndrome 36
485 THM002 Thiamine-Responsive Megaloblastic Anemia Syndrome 51
486 ABC001 Abcd Syndrome 32
487 RCH002 Richards-Rundle Syndrome 30
488 FBR088 Fibromatosis, Gingival, with Progressive Deafness 26
489 INS024 Insulin-Like Growth Factor I 76
490 P USH001 Usher Syndrome 59
491 DFN309 Deafness, Conductive, with Ptosis and Skeletal Anomalies 19
492 SYS006 Say Syndrome 31
493 RBF003 Riboflavin Transporter Deficiency 29
494 DFN305 Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy 20
495 NRD051 Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 16
496 MDD004 Middle Ear Adenocarcinoma 16
497 DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 7
498 c USH036 Usher Syndrome, Type I 57
499 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
500 DFN038 Dfnb1 29
501 DFN307 Deafness-Oligodontia Syndrome 16
502 P DFN023 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 17 12
503 c ALP073 Alport Syndrome, Autosomal Recessive 49
504 SDD008 Sudden Sensorineural Hearing Loss 46
505 DNR002 Duane-Radial Ray Syndrome 46
506 CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 19
507 AYZ001 Ayazi Syndrome 9
508 RBF002 Riboflavin Transporter Deficiency Neuronopathy 18
509 RRD001 Reardon Wilson Cavanagh Syndrome 12
510 WLL007 Wells-Jankovic Syndrome 10
511 RMS002 Ramos Arroyo Clark Syndrome 9
512 FTZ004 Fitzsimmons Walson Mellor Syndrome 8
513 SKN019 Skin Melanoma 63
514 DFN007 Deafness Enamel Hypoplasia Nail Defects 33
515 GMG001 Gemignani Syndrome 18
516 SYN025 Syndactyly-Polydactyly-Earlobe Syndrome 16
517 c DFN027 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 12
518 SNT001 Santos Mateus Leal Syndrome 9
519 MNR012 Meniere Disease 55
520 BRN003 Branchiooculofacial Syndrome 49
521 c MLT059 Multiple Synostoses Syndrome 1 28
522 CNG495 Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay 20
523 c USH037 Usher Syndrome, Type Iia 47
524 P OTS002 Otospondylomegaepiphyseal Dysplasia 46
525 MRS002 Marshall Syndrome 42
526 SSC001 Susac Syndrome 36
527 TTR024 Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, and Other Abnormalities 26
528 MCR093 Microtia-Anotia 25
529 CNZ007 Coenzyme Q10 Deficiency, Primary, 2 21
530 SVR009 Seaver Cassidy Syndrome 20
531 PHV001 Phaver Syndrome 19
532 ARC009 Auriculoosteodysplasia 17
533 VLJ001 Viljoen Kallis Voges Syndrome 11
534 MDP002 Mdp Syndrome 10
535 MHS001 Mehes Syndrome 8
536 HMF006 Hemifacial Microsomia 58
537 P WRD001 Waardenburg's Syndrome 58
538 CGN006 Cogan Syndrome 49
539 SPR126 Superior Semicircular Canal Dehiscence 41
540 c SPL034 Split-Hand/foot Malformation 4 40
541 c BRN131 Branchiootorenal Syndrome 1 39
542 c SPL024 Split-Hand/foot Malformation 3 39
543 c SPL033 Split-Hand/foot Malformation 6 35
544 P OTF004 Otofaciocervical Syndrome 1 34
545 PTL001 Patulous Eustachian Tube 32
546 RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 30
547 MLL021 Mullerian Duct Aplasia, Unilateral Renal Agenesis, and Cervicothoracic Somite Anomalies 28
548 EVN003 Even-Plus Syndrome 25
549 CNG382 Congenital Cataracts, Hearing Loss, and Neurodegeneration 22
550 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 22
551 SMS004 Simosa Craniofacial Syndrome 20
552 c BRN086 Branchiootorenal Syndrome 2 19
553 MTR049 Maternally-Inherited Cardiomyopathy and Hearing Loss 17
554 XLN128 X-Linked Intellectual Disability, Abidi Type 16
555 EPD075 Epidermolysis Bullosa Dystrophica Neurotrophica 15
556 SGL001 Siegler Brewer Carey Syndrome 10
557 PFF002 Pfeiffer Kapferer Syndrome 8
558 BGT001 Bagatelle Cassidy Syndrome 7
559 WNK001 Winkelman Bethge Pfeiffer Syndrome 7
560 SCH020 Schaap Taylor Baraitser Syndrome 7
561 c DFN024 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 22 5
562 WNS001 Weinstein Kliman Scully Syndrome 5
563 DFN009 Deafness Hyperuricemia Neurologic Ataxia 4
564 IDK001 Iida Kannari Syndrome 4
565 MMN001 Maumenee Syndrome 4
566 c DFN026 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 24 3
567 c DFN025 Deafness, Autosomal Dominant Nonsyndromic Sensorineural 23 3
568 DFN033 Deafness, Neurosensory Nonsyndromic Recessive, Dfn 3
569 DFN012 Deafness Mesenteric Diverticula of Small Bowel Neuropathy 3
570 DFN018 Deafness Peripheral Neuropathy Arterial Disease 3
571 P CNG411 Congenital Disorder of Glycosylation, Type in 66
572 P STC001 Stickler Syndrome 56
573 TRM010 Traumatic Brain Injury 56
574 ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56
575 c ART120 Arthrogryposis, Distal, Type 3 50
576 P PRX021 Proximal Symphalangism 49
577 HYP351 Hypertrichosis Universalis Congenita, Ambras Type 49
578 c ART144 Arthrogryposis, Distal, Type 1a 49
579 STP011 Stapes Ankylosis with Broad Thumbs and Toes 48
580 PRP066 Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 48
581 KRT010 Kartagener Syndrome 48
582 P MRD002 Marden-Walker Syndrome 47
583 c WRD032 Waardenburg Syndrome, Type 2a 47
584 c NNS007 Nonsyndromic Deafness 46
585 c DFN200 Deafness, Autosomal Dominant 17 43
586 PLY052 Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract 42
587 P PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 41
588 c DFN174 Deafness, Autosomal Recessive 44 41
589 c DFN203 Deafness, Autosomal Recessive 30 40
590 c DFN360 Deafness, Autosomal Dominant 69 39
591 MXL016 Maxillonasal Dysplasia, Binder Type 39
592 c DFN117 Deafness, Autosomal Dominant 15 38
593 c LPR012 Leopard Syndrome 1 38
594 EMN001 Emanuel Syndrome 37
595 P BRN042 Branchiootic Syndrome 37
596 c DFN136 Deafness, Autosomal Dominant 9 37
597 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
598 c DFN168 Deafness, Autosomal Recessive 26 36
599 SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 36
600 VST001 Vestibular Neuronitis 36
601 c DFN330 Deafness, Autosomal Recessive 97 35
602 c DFN192 Deafness, Autosomal Dominant 23 34
603 c DFN252 Deafness, Autosomal Recessive 24 34
604 c DFN353 Deafness, Autosomal Dominant 12 33
605 LMB010 Lambert Syndrome 33
606 c DFN095 Deafness, Autosomal Recessive 25 32
607 c DFN114 Deafness, Autosomal Recessive 67 32
608 c DFN151 Deafness, Autosomal Dominant 24 32
609 c DFN184 Deafness, Autosomal Recessive 85 32
610 c DFN183 Deafness, Autosomal Recessive 83 32
611 c DFN148 Deafness, Autosomal Dominant 16 31
612 c DFN260 Deafness, Autosomal Recessive 89 31
613 c CCK002 Cockayne Syndrome Type I 31
614 c DFN171 Deafness, Autosomal Recessive 33 31
615 SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 31
616 c DFN269 Deafness, Autosomal Recessive 98 30
617 HYP674 Hyperostosis Cranialis Interna 30
618 c DFN118 Deafness, Autosomal Dominant 44 30
619 c STC013 Stickler Syndrome, Type Ii 30
620 c HRD198 Hereditary Dystonia 30
621 c ATS006 Autosomal Recessive Nonsyndromic Deafness 30
622 c DFN240 Deafness, Autosomal Recessive 96 30
623 c THY114 Thyroid Hormone Resistance, Generalized, Autosomal Recessive 29
624 NBL001 Nablus Mask-Like Facial Syndrome 29
625 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 29
626 c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 29
627 c DFN116 Deafness, Autosomal Recessive 74 29
628 CRB189 Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, and Sensorineural Hearing Loss 29
629 c ATS005 Autosomal Dominant Nonsyndromic Deafness 29
630 c VHW003 Vohwinkel Syndrome, Variant Form 29
631 c DFN119 Deafness, Autosomal Dominant 50 28
632 c WLF011 Wolfram-Like Syndrome, Autosomal Dominant 28
633 c DFN160 Deafness, Autosomal Dominant 52 28
634 CNT017 Central Nervous System Origin Vertigo 28
635 c SYM022 Symphalangism, Proximal, 1a 28
636 c DFN246 Deafness, Autosomal Dominant 51 28
637 c DYS059 Dystonia 16 28
638 c FRN049 Frontometaphyseal Dysplasia 1 27
639 c DFN181 Deafness, Autosomal Recessive 66 27
640 c DFN150 Deafness, Autosomal Dominant 21 27
641 c DFN111 Deafness, Autosomal Recessive 35 27
642 49X001 49, Xxxxx 26
643 c ATS380 Autosomal Recessive Nonsyndromic Deafness 36 26
644 c DFN248 Deafness, Autosomal Recessive 18b 26
645 c CCK004 Cockayne Syndrome Type Iii 26
646 c DFN284 Deafness, Autosomal Dominant 67 26
647 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
648 c DFN154 Deafness, Autosomal Dominant 31 25
649 c ART112 Arthrogryposis, Distal, Type 10 25
650 VST006 Vestibulocochlear Nerve Disease 25
651 c DFN272 Deafness, Autosomal Dominant 54 25
652 ADT002 Auditory System Cancer 24
653 c DFN263 Deafness, Autosomal Recessive 68 24
654 c DFN155 Deafness, Autosomal Dominant 41 24
655 ACR079 Acrodysostosis with Multiple Hormone Resistance 24
656 PTR001 Petrositis 23
657 c DFN266 Deafness, Autosomal Dominant 4b 23
658 c DFN163 Deafness, Autosomal Dominant 7 23
659 PRL021 Perilymphatic Fistula 23
660 c NRP039 Neuropathy, Hereditary Sensory, Type Id 23
661 c TRC071 Treacher Collins Syndrome 3 22
662 c DFN156 Deafness, Autosomal Dominant 43 22
663 c DFN243 Deafness, Autosomal Recessive 88 22
664 c DFN173 Deafness, Autosomal Recessive 40 22
665 c DFN161 Deafness, Autosomal Dominant 53 22
666 c DFN167 Deafness, Autosomal Recessive 20 22
667 c DFN158 Deafness, Autosomal Dominant 49 22
668 c CLR068 Ciliary Dyskinesia, Primary, 5 22
669 c DFN278 Deafness, Autosomal Dominant 65 22
670 c ATX041 Ataxia-Telangiectasia-Like Disorder 2 22
671 c DFN166 Deafness, Autosomal Recessive 17 22
672 c DFN261 Deafness, Autosomal Recessive 46 21
673 BLP009 Blepharonasofacial Malformation Syndrome 21
674 c DFN180 Deafness, Autosomal Recessive 65 21
675 c DFN271 Deafness, Autosomal Dominant 58 21
676 c DFN257 Deafness, Autosomal Dominant 33 21
677 c ART128 Arthrogryposis, Distal, Type 6 21
678 c DFN281 Deafness, Autosomal Recessive 103 21
679 c DFN099 Deafness, Autosomal Dominant 2b 21
680 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 21
681 c DFN254 Deafness, Autosomal Recessive 84b 21
682 c DFN147 Deafness, X-Linked 4 20
683 c DFN169 Deafness, Autosomal Recessive 27 20
684 c DFN164 Deafness, Autosomal Recessive 13 20
685 c DFN172 Deafness, Autosomal Recessive 38 20
686 c DFN149 Deafness, Autosomal Dominant 18 20
687 c DFN162 Deafness, Autosomal Dominant 59 20
688 ERM001 Ermine Phenotype 20
689 ENC059 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Spasticity 20
690 c DFN265 Deafness, Autosomal Recessive 76 20
691 c DFN329 Deafness, Autosomal Dominant 66 20
692 c DFN273 Deafness, Autosomal Recessive 101 20
693 c DFN277 Deafness, Autosomal Recessive 102 19
694 c DFN153 Deafness, Autosomal Dominant 30 19
695 c DFN157 Deafness, Autosomal Dominant 47 19
696 c DFN182 Deafness, Autosomal Recessive 71 19
697 c DFN179 Deafness, Autosomal Recessive 62 19
698 c DFN283 Deafness, Autosomal Recessive 104 19
699 c DFN134 Deafness, Autosomal Dominant 40 19
700 c DFN242 Deafness, Autosomal Recessive 70 19
701 RNS005 Rnase T2-Deficient Leukoencephalopathy 19
702 P XLN004 X-Linked Nonsyndromic Deafness 19
703 c DFN274 Deafness, Autosomal Dominant 56 19
704 c DFN165 Deafness, Autosomal Recessive 14 19
705 c DFN175 Deafness, Autosomal Recessive 45 19
706 c MLT060 Multiple Synostoses Syndrome 2 19
707 c DFN327 Deafness, Autosomal Dominant 70 19
708 c ATS381 Autosomal Recessive Nonsyndromic Deafness 86 19
709 ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 18
710 c ART054 Arthrogryposis, Distal, Type 2e 18
711 c DFN152 Deafness, Autosomal Dominant 27 18
712 c DFN194 Deafness, X-Linked 1 18
713 c ATS409 Autosomal Recessive Nonsyndromic Deafness 32 18
714 c DFN336 Deafness, Autosomal Dominant 68 17
715 c SYM019 Symphalangism, Proximal, 1b 17
716 c DFN146 Deafness, X-Linked 3 16
717 CCH008 Cochlear Nerve Deficiency 15
718 c DFN186 Deafness, Y-Linked 1 15
719 c MRD001 Marden Walker Like Syndrome 15
720 c ATS335 Autosomal Recessive Nonsyndromic Deafness 105 14
721 c ATS400 Autosomal Dominant Nonsyndromic Deafness 72 9
722 c ATS398 Autosomal Recessive Nonsyndromic Deafness 108 9
723 c ATS401 Autosomal Dominant Nonsyndromic Deafness 73 9
724 c ATS397 Autosomal Recessive Nonsyndromic Deafness 107 9
725 c ATS396 Autosomal Recessive Nonsyndromic Deafness 106 9
726 c ATS402 Autosomal Dominant Nonsyndromic Deafness 34 9
727 c ATS399 Autosomal Dominant Nonsyndromic Deafness 71 9
728 NRP028 Neuropathy with Hearing Impairment 5
729 ACT025 Acute Allergic Sanguinous Otitis Media 5
730 ACT002 Acute Allergic Serous Otitis Media 5
731 ACT063 Acute Allergic Mucoid Otitis Media 5
732 CHR629 Charcot-Marie-Tooth Disease and Deafness 47
733 P VHW001 Vohwinkel Syndrome 41
734 c OPT053 Optic Atrophy 1 51
735 c OPT068 Optic Atrophy 3, Autosomal Dominant 33
736 c ATS069 Autosomal Dominant Optic Atrophy Plus Syndrome 26
737 c OPT064 Optic Atrophy 11 24
738 PTT047 Pituitary Hormone Deficiency, Combined, 3 24
739 c OPT023 Optic Atrophy 2 22
740 PND002 Pendred Syndrome 59
741 JHN004 Johnson Neuroectodermal Syndrome 32
742 P ALP074 Alport Syndrome, Autosomal Dominant 47
743 NPH014 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 19
744 FGN001 Feigenbaum Bergeron Richardson Syndrome 8
745 P PRG013 Paraganglioma 58
746 c PRG018 Paragangliomas 1 55
747 IFP001 Ifap Syndrome with or Without Bresheck Syndrome 42
748 c NNS018 Nonsyndromic Paraganglioma 28
749 RNS001 Raine Syndrome 45
750 MYR002 Mayer-Rokitansky-Kuster-Hauser Syndrome 61
751 c WRD030 Waardenburg Syndrome, Type 1 56
752 P LPR002 Leopard Syndrome 51
753 c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 45
754 c USH038 Usher Syndrome, Type Iiia 43
755 P MMP001 Mumps 59
756 P PRM011 Primary Ciliary Dyskinesia 56
757 WLF002 Wolf-Hirschhorn Syndrome 53
758 RSD004 Rosai-Dorfman Disease 52
759 P RNL015 Renal Hypertension 50
760 c THY112 Thyroid Hormone Resistance, Generalized, Autosomal Dominant 49
761 P KLP003 Klippel-Feil Syndrome 44
762 MLN014 Melnick-Needles Syndrome 41
763 c OTP006 Otopalatodigital Syndrome, Type I 40
764 KTL001 Keutel Syndrome 40
765 GNC003 Geniculate Herpes Zoster 38
766 P GNR008 Generalized Resistance to Thyroid Hormone 36
767 LYM094 Lymphedema, Primary, with Myelodysplasia 31
768 c RNL113 Renal Failure, Progressive, with Hypertension 31
769 c KLP007 Klippel-Feil Syndrome 1, Autosomal Dominant 28
770 MLL009 Mullerian Aplasia 26
771 c KLP008 Klippel-Feil Syndrome 2, Autosomal Recessive 26
772 EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 24
773 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
774 c KLP006 Klippel-Feil Syndrome 3, Autosomal Dominant 16
775 DPL003 Diploid-Triploid Mosaicism 15
776 KSZ001 Kasznica Carlson Coppedge Syndrome 15
777 OSS006 Ossicular Malformations, Familial 11
778 DNM002 Dnmt1-Related Dementia, Deafness, and Sensory Neuropathy 9
779 c CNG110 Congenital Mumps 7
780 c NRF024 Neurofibromatosis, Type I 68
781 ACS001 Acoustic Neuroma 62
782 DGR001 Digeorge Syndrome 62
783 c ORF040 Orofaciodigital Syndrome Viii 60
784 P DST002 Distal Arthrogryposis 59
785 P EPS003 Episodic Ataxia 57
786 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
787 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
788 c ART119 Arthrogryposis, Distal, Type 5 54
789 c EPS042 Episodic Ataxia, Type 1 52
790 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 50
791 NNN026 Noonan Syndrome with Multiple Lentigines 49
792 P BRN006 Branchiootorenal Syndrome 47
793 ACR013 Acrodysostosis 46
794 c ART061 Arthrogryposis, Distal, Type 2a 46
795 c ORF034 Orofaciodigital Syndrome Vi 46
796 P FRN012 Frontometaphyseal Dysplasia 45
797 NRF008 Neurofibromatosis-Noonan Syndrome 44
798 c DFN107 Deafness, Autosomal Dominant 10 44
799 c DFN190 Deafness, Autosomal Dominant 2a 42
800 c DFN354 Deafness, Autosomal Dominant 20 41
801 BNT003 Bent Bone Dysplasia Syndrome 41
802 c DFN351 Deafness, Autosomal Dominant 6 41
803 c DFN250 Deafness, Autosomal Recessive 2 40
804 c DFN197 Deafness, Autosomal Recessive 37 40
805 c DFN251 Deafness, Autosomal Dominant 11 40
806 c DFN202 Deafness, Autosomal Dominant 48 40
807 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
808 BNG018 Benign Paroxysmal Positional Nystagmus 39
809 c DFN097 Deafness, Autosomal Recessive 1a 39
810 P ADT009 Auditory Neuropathy Spectrum Disorder 38
811 c DFN141 Deafness, Autosomal Recessive 12 38
812 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
813 c DFN143 Deafness, Autosomal Recessive 16 37
814 HYD001 Hydranencephaly 37
815 c DFN092 Deafness, Autosomal Recessive 49 37
816 c DFN120 Deafness, Autosomal Recessive 39 36
817 c WLF009 Wolfram Syndrome 2 36
818 c DFN124 Deafness, Autosomal Recessive 6 36
819 c DFN137 Deafness, Autosomal Dominant 13 35
820 c ORF035 Orofaciodigital Syndrome Iv 35
821 c DFN094 Deafness, Autosomal Dominant 28 34
822 c STC015 Stickler Syndrome, Type I 34
823 c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 34
824 c DFN189 Deafness, Autosomal Dominant 25 34
825 c DFN093 Deafness, Autosomal Recessive 23 34
826 c DFN249 Deafness, Autosomal Recessive 93 33
827 c DFN130 Deafness, Autosomal Recessive 21 33
828 GLS004 Glossopharyngeal Neuralgia 33
829 c DFN133 Deafness, Autosomal Recessive 9 33
830 c DFN121 Deafness, Autosomal Recessive 28 33
831 c ART147 Arthrogryposis, Distal, Type 7 33
832 c DFN128 Deafness, Autosomal Dominant 36 32
833 MHR002 Mohr Syndrome 32
834 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
835 c DFN123 Deafness, Autosomal Recessive 79 31
836 c DFN352 Deafness, Autosomal Recessive 8 31
837 c DFN029 Deafness, Autosomal Recessive 51 31
838 c CCK003 Cockayne Syndrome Type Ii 30
839 c DFN139 Deafness, Autosomal Recessive 29 30
840 c DFN258 Deafness, Autosomal Recessive 48 29
841 c DFN244 Deafness, Autosomal Recessive 42 29
842 c DFN127 Deafness, Autosomal Recessive 7 29
843 c SNS009 Sensory Neuropathy Type 1 29
844 c DFN098 Deafness, Autosomal Dominant 3a 29
845 c DFN159 Deafness, Autosomal Dominant 5 29
846 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
847 c DFN262 Deafness, Autosomal Recessive 15 28
848 c DYS162 Dystonia, Juvenile-Onset 28
849 ATH001 Athabaskan Brainstem Dysgenesis Syndrome 28
850 c DFN178 Deafness, Autosomal Recessive 59 27
851 c DFN253 Deafness, Autosomal Recessive 84a 27
852 c DFN108 Deafness, Autosomal Recessive 77 26
853 c DFN112 Deafness, Autosomal Recessive 63 26
854 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
855 c ORF038 Orofaciodigital Syndrome Iii 26
856 c DFN280 Deafness, Autosomal Recessive 26
857 c DFN170 Deafness, Autosomal Recessive 31 26
858 c NRP036 Neuropathy, Hereditary Sensory, Type if 25
859 c DFN138 Deafness, Autosomal Recessive 53 25
860 c DFN103 Deafness, Autosomal Recessive 1b 24
861 c DFN247 Deafness, Autosomal Recessive 18a 24
862 c DFN177 Deafness, Autosomal Recessive 5 23
863 c VRL004 Viral Labyrinthitis 22
864 c DFN259 Deafness, Autosomal Recessive 86 22
865 NRL023 Neurologic, Endocrine, and Pancreatic Disease, Multisystem, Infantile-Onset 22
866 c DFN267 Deafness, Autosomal Dominant 4a 21
867 c DFN255 Deafness, Autosomal Dominant 64 21
868 c DFN132 Deafness, Autosomal Recessive 22 20
869 c DFN188 Deafness, Autosomal Recessive 61 20
870 INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 20
871 c DFN328 Deafness, Autosomal Dominant 72 20
872 c DFN364 Deafness, Autosomal Recessive 57 20
873 c DFN030 Deafness, Autosomal Recessive 55 19
874 c DFN325 Deafness, Autosomal Recessive 108 19
875 c DFN135 Deafness, Autosomal Recessive 91 19
876 c DFN333 Deafness, Autosomal Dominant 73 19
877 c DFN361 Deafness, Autosomal Recessive 106 19
878 c DFN102 Deafness, Autosomal Dominant 3b 18
879 c DFN365 Deafness, Autosomal Recessive 109 18
880 c DFN335 Deafness, Autosomal Dominant 71 18
881 MND005 Mondini Dysplasia 17
882 c DFN337 Deafness, Autosomal Recessive 107 17
883 c DFN367 Deafness, Autosomal Recessive 110 16
884 c OTF001 Otof-Related Deafness 15
885 c DFN368 Deafness, Autosomal Dominant 74 13
886 c DFN369 Deafness, Autosomal Recessive 111 13
887 MLG028 Malignant Neoplasm of Acoustic Nerve 8
888 OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 37
889 TMT002 Temtamy Preaxial Brachydactyly Syndrome 30
890 DFN299 Deafness-Lymphedema-Leukemia Syndrome 26
891 MRC004 Murcs Association 32
892 P TRC072 Treacher Collins Syndrome 1 63
893 P PGT001 Paget's Disease of Bone 61
894 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
895 ALS001 Alstrom Syndrome 55
896 c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 52
897 PRL032 Perlman Syndrome 51
898 c TRC091 Trichorhinophalangeal Syndrome, Type Ii 50
899 P HRD021 Hereditary Sensory Neuropathy 49
900 c TRC092 Trichorhinophalangeal Syndrome, Type I 48
901 c PGT008 Paget Disease of Bone 5, Juvenile-Onset 46
902 c ART146 Arthrogryposis, Distal, Type 9 42
903 c DFN196 Deafness, Autosomal Dominant 22 40
904 FRN039 Frank-Ter Haar Syndrome 38
905 c PGT007 Paget Disease of Bone 3 36
906 LTR009 Lateral Meningocele Syndrome 36
907 c DFN131 Deafness, Autosomal Dominant 1 35
908 P TRC031 Trichorhinophalangeal Syndrome 28
909 c DFN357 Deafness, Autosomal Recessive 47 26
910 c TRC093 Trichorhinophalangeal Syndrome, Type Iii 26
911 c PGT009 Paget Disease of Bone 2, Early-Onset 26
912 CTR140 Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, and Skeletal Dysplasia 26
913 LWR016 Lowry-Maclean Syndrome 22
914 c PGT011 Paget Disease of Bone 6 21
915 c PGT006 Paget Disease of Bone 4 18
916 c TRC104 Trichorhinophalangeal Syndrome Type 1 and 3 17
917 TNG006 Tunglang Savage Bellman Syndrome 13
918 KRN002 Kearns-Sayre Syndrome 61
919 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
920 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
921 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 41
922 c DFN201 Deafness, Autosomal Recessive 3 36
923 c WRD010 Waardenburg Syndrome Type 4 34
924 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
925 c ORF046 Orofaciodigital Syndrome Xvi 28
926 c USH044 Usher Syndrome, Type Iiib 26
927 c ORF051 Orofaciodigital Syndrome Xvii 25
928 c ORF045 Orofaciodigital Syndrome Xv 24
929 c ORF052 Orofaciodigital Syndrome Xviii 24
930 c WRD029 Waardenburg Syndrome, Type 2b 23
931 c STC007 Stickler Syndrome, Type 3 17
932 c ORF039 Orofaciodigital Syndrome Vii 16
933 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
934 P FML056 Familial Deafness 17
935 c CCK008 Cockayne Syndrome a 53
936 P ORF001 Orofaciodigital Syndrome 48
937 c ORF043 Orofaciodigital Syndrome Ix 29
938 c ORF033 Orofaciodigital Syndrome V 28
939 c ORF036 Orofaciodigital Syndrome Xiv 25
940 c ORF041 Orofaciodigital Syndrome X 24
941 c ORF006 Orofaciodigital Syndrome 13 15
942 c ORF005 Orofaciodigital Syndrome 12 15
943 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
944 c ORF037 Orofaciodigital Syndrome I 53
945 c ORF042 Orofaciodigital Syndrome Xi 25



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