Muscle Diseases Category (1736 diseases)


Including: Muscles, tendons, ligaments, Myocytes
See other categories (disease lists)

# Family MCID Name MIFTS
1 c SPN395 Spinal Muscular Atrophy, Type Ii 55
2 c SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 31
3 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 51
4 P SPN046 Spinal Muscular Atrophy 63
5 c SPN394 Spinal Muscular Atrophy, Type Iii 52
6 c SPN398 Spinal Muscular Atrophy, Type Iv 44
7 c SPN393 Spinal Muscular Atrophy, Type I 51
8 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 38
9 c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 34
10 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 42
11 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 32
12 P SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 26
13 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
14 GLY061 Glycogen Storage Disease 0, Muscle 32
15 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56
16 TKL001 Tukel Syndrome 52
17 c GLY098 Glycogen Storage Disease, Type Ixd 45
18 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 29
19 c GLY004 Glycogen Storage Disease V 62
20 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 46
21 c GLY059 Glycogen Storage Disease Xiii 25
22 SCP002 Scapuloperoneal Spinal Muscular Atrophy 55
23 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 48
24 MSC077 Muscle Eye Brain Disease 52
25 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 39
26 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 33
27 AMY098 Amyotrophy, Monomelic 33
28 MSC012 Muscular Dystrophy, Duchenne and Becker Type 33
29 c HRD010 Hereditary Spastic Paraplegia 66
30 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 62
31 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58
32 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56
33 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 49
34 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 49
35 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
36 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 48
37 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 44
38 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 44
39 c SPS126 Spastic Paraplegia 49, Autosomal Recessive 44
40 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
41 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
42 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 42
43 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 42
44 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 41
45 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 41
46 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 41
47 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
48 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 41
49 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 40
50 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 40
51 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 40
52 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 40
53 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 39
54 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 39
55 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 39
56 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 39
57 c SPS101 Spastic Paraplegia 56, Autosomal Recessive 39
58 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 38
59 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 38
60 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 38
61 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 37
62 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 37
63 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 37
64 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 37
65 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 37
66 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 36
67 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 35
68 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 35
69 c SPS092 Spastic Paraplegia 11 33
70 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 33
71 P SPS012 Spastic Paraplegia 3a 32
72 c HRD220 Hereditary Spastic Paraplegia 30 32
73 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 31
74 c SPS025 Spastic Paraplegia 15 30
75 c SPS036 Spastic Paraplegia 3 30
76 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 29
77 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
78 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
79 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 29
80 c HRD186 Hereditary Spastic Paraplegia 51 29
81 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 28
82 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 28
83 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 28
84 c HRD188 Hereditary Spastic Paraplegia 72 28
85 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 28
86 c SPS021 Spastic Paraplegia 10 27
87 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 27
88 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 27
89 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 27
90 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 27
91 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 26
92 c SPS041 Spastic Paraplegia 6 26
93 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 25
94 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 25
95 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 24
96 c SPS027 Spastic Paraplegia 17 23
97 c HRD210 Hereditary Spastic Paraplegia 23 22
98 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 21
99 c SPS038 Spastic Paraplegia 39 21
100 c SPS042 Spastic Paraplegia 9 21
101 c SPS023 Spastic Paraplegia 13 21
102 c SPS022 Spastic Paraplegia 12 18
103 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 17
104 c SPS028 Spastic Paraplegia 18 16
105 c SPS034 Spastic Paraplegia 26 16
106 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 15
107 c SPS032 Spastic Paraplegia 24 14
108 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
109 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
110 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 14
111 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 13
112 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 13
113 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 13
114 c SPS029 Spastic Paraplegia 19 13
115 c SPS035 Spastic Paraplegia 29 13
116 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 12
117 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 12
118 c SPS024 Spastic Paraplegia 14 12
119 c SPS165 Spastic Paraplegia 47 12
120 c SPS161 Spastic Paraplegia 32 11
121 c SPS026 Spastic Paraplegia 16 11
122 c SPS033 Spastic Paraplegia 25 11
123 c SPS230 Spastic Paraplegia Type 49 10
124 c SPS040 Spastic Paraplegia 5b 7
125 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 22
126 CST006 Costocoracoid Ligament, Congenitally Short 13
127 CNT105 Central Core Disease of Muscle 59
128 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 52
129 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 43
130 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 36
131 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
132 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59
133 TBL022 Tibial Muscular Dystrophy, Tardive 36
134 FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 28
135 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 19
136 FBR011 Fibrodysplasia Ossificans Progressiva 67
137 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 28
138 BRW006 Brown Syndrome 26
139 GLT037 Gluteal Muscles, Absence of 15
140 MSC007 Muscle Hypertrophy 64
141 P LMN012 Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 35
142 P CLP009 Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 30
143 c LSS025 Lissencephaly 5 27
144 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 16
145 c CNG012 Congenital Generalized Lipodystrophy 65
146 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 51
147 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 51
148 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47
149 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 45
150 P ACQ022 Acquired Generalized Lipodystrophy 45
151 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 37
152 c TRS025 Torsion Dystonia 2 27
153 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 24
154 c DYS068 Dystonia 7, Torsion 23
155 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 22
156 MYP154 Myopathy, Congenital, with Fast-Twitch Fiber Atrophy 21
157 c TRS027 Torsion Dystonia 4 19
158 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
159 P TRS005 Torsion Dystonia with Onset in Infancy 12
160 c TRS028 Torsion Dystonia 17 5
161 c GLY008 Glycogen Storage Disease Ii 72
162 c GLY060 Glycogen Storage Disease Ia 63
163 c GLY003 Glycogen Storage Disease Iii 60
164 c GLY005 Glycogen Storage Disease Vi 58
165 c GLY007 Glycogen Storage Disease Iv 58
166 c GLY011 Glycogen Storage Disease Vii 54
167 ADP007 Adie Pupil 40
168 c GLY016 Glycogen Storage Disease Ib 40
169 c GLY044 Glycogen Storage Disease Ixc 37
170 WLN001 Welander Distal Myopathy 35
171 c GLY006 Glycogen Storage Disease Viii 33
172 c GLY057 Glycogen Storage Disease X 33
173 c GLY043 Glycogen Storage Disease Xii 30
174 c GLY017 Glycogen Storage Disease Ic 30
175 SPN267 Spinal Muscular Atrophy, Jokela Type 30
176 CHL155 Childhood Spinal Muscular Atrophy 30
177 c GLY023 Glycogen Storage Disease Type 0 27
178 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 26
179 c GLY093 Glycogen Storage Disease Ixa 26
180 c GLY001 Glycogen Storage Disease Ix 25
181 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 23
182 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
183 TNS001 Tenosynovial Giant Cell Tumor 40
184 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 36
185 VCL008 Vacuolar Neuromyopathy 20
186 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
187 APL029 Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy 15
188 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 13
189 DWR023 Dwarfism, Familial, with Muscle Spasms 12
190 RPP004 Rippling Muscle Disease with Myasthenia Gravis 11
191 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
192 c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 53
193 PST020 Postpoliomyelitis Syndrome 43
194 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 28
195 c SPN444 Spinal Muscular Atrophy Type 0 22
196 P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 18
197 MYT030 Myotonia, Potassium-Aggravated 46
198 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 19
199 VNT025 Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness 19
200 c FBR078 Fibrosis of Extraocular Muscles, Congenital, 5 17
201 SKL034 Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus 13
202 TND001 Tendon Sheath Lipoma 11
203 UTR041 Uterine Ligament Cancer 8
204 c SPN441 Spinal Muscular Atrophy with Lower Extremity Predominance 2a 4
205 PRM057 Paramyotonia Congenita of Von Eulenburg 59
206 P DYS193 Dystonia 11, Myoclonic 55
207 c PNT045 Pontocerebellar Hypoplasia, Type 1a 41
208 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 36
209 BRW002 Brown's Tendon Sheath Syndrome 27
210 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 24
211 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 23
212 c DYS175 Dystonia 26, Myoclonic 22
213 c DYS058 Dystonia 15, Myoclonic 19
214 MST022 Masticatory Muscles, Hypertrophy of 19
215 MSC158 Muscular Dystrophy, Scapulohumeral 18
216 c LMN013 Laminin Subunit Alpha 2-Related Muscular Dystrophy 12
217 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 9
218 c CLP008 Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 5
219 c SPN443 Spinal Muscular Atrophy with Lower Extremity Predominance 1 5
220 LMN014 Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 4
221 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 3
222 P CTS001 Cutis Laxa 65
223 P INF049 Infantile Myofibromatosis 55
224 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
225 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 53
226 BRS064 Bursitis 51
227 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
228 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 48
229 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
230 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
231 c CTS041 Cutis Laxa, Autosomal Dominant 3 45
232 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
233 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 44
234 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
235 P PRX014 Proximal Spinal Muscular Atrophy 42
236 c CTS031 Cutis Laxa, Autosomal Dominant 2 40
237 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
238 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
239 c MYF007 Myofibromatosis, Infantile, 1 37
240 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 35
241 c ATP003 Atp6v0a2-Related Cutis Laxa 32
242 DQR001 De Quervain Disease 25
243 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 24
244 c ACQ027 Acquired Cutis Laxa 24
245 c LTB003 Ltbp4-Related Cutis Laxa 23
246 c FBL003 Fbln5-Related Cutis Laxa 23
247 c ATS451 Autosomal Recessive Cutis Laxa Type 2 23
248 c EFM001 Efemp2-Related Cutis Laxa 21
249 SPN447 Spinal Muscular Atrophy, Infantile, James Type 20
250 CML001 Cumulative Trauma Disorders 18
251 EMR021 Emery-Dreifuss Syndrome 11
252 CLL037 Collagen Vi Related Muscular Dystrophy 8
253 SPN387 Spinal Muscular Atrophy, Segmental 7
254 HMN015 Hamanishi Ueba Tsuji Syndrome 7
255 MSC031 Muscular Phosphorylase Kinase Deficiency 5
256 P DYS154 Dystonia 64
257 PGM001 Pigmented Villonodular Synovitis 55
258 ENT004 Enthesopathy 51
259 c EHL078 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 51
260 DYS032 Dystrophinopathies 47
261 CRY032 Carey-Fineman-Ziter Syndrome 46
262 CRV043 Cervical Dystonia 46
263 c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 44
264 SPS057 Spasticity 42
265 c MYS070 Myasthenic Syndrome, Congenital, 19 41
266 c PNT010 Pontocerebellar Hypoplasia Type 1 40
267 P CLD003 Cold-Induced Sweating Syndrome 40
268 P KYP005 Kyphoscoliotic Ehlers-Danlos Syndrome 39
269 DYS030 Dysferlinopathy 38
270 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 37
271 P SNG014 Singleton-Merten Syndrome 36
272 P SLW003 Slow-Channel Congenital Myasthenic Syndrome 35
273 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 34
274 CYC001 Cycloplegia 34
275 c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 34
276 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 31
277 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 31
278 c MYS065 Myasthenic Syndrome, Congenital, 18 30
279 c SNG011 Singleton-Merten Syndrome 1 30
280 CYL001 Cayler Cardiofacial Syndrome 28
281 ATM005 Autoimmune Disease of Musculoskeletal System 27
282 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 26
283 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 23
284 MYS050 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 21
285 DST013 Distal Myopathy with Vocal Cord Weakness 20
286 c ATS425 Autosomal Recessive Distal Hereditary Motor Neuronopathy 20
287 c PLD003 Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome 20
288 MYS063 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 19
289 MYP161 Myopathy, Congenital Proximal, with Minicore Lesions 17
290 RPT005 Repetitive Motion Disorders 16
291 CNG248 Congenital Smooth Muscle Hamartoma 14
292 KCH001 Kocher-Debre-Semelaigne Syndrome 13
293 c CLD017 Cold-Induced Sweating Syndrome 3 12
294 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 12
295 MST003 Masters-Allen Syndrome 11
296 RPT006 Repetitive Stress Injuries 9
297 PLV002 Pelvic Muscle Wasting 8
298 UTR060 Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease 5
299 P SPN442 Spinal Muscular Atrophy with Lower Extremity Predominante 2b 4
300 P CRN015 Cornelia De Lange Syndrome 67
301 INT146 Intervertebral Disc Disease 63
302 P EPL198 Epilepsy, Myoclonic Juvenile 61
303 c CRN139 Cornelia De Lange Syndrome 1 61
304 CHK001 Chikungunya 60
305 P GLY013 Glycogen Storage Disease 60
306 P MYC008 Myocarditis 59
307 END021 Endomyocardial Fibrosis 56
308 FDB001 Foodborne Botulism 55
309 c MYS051 Myasthenic Syndrome, Congenital, 5 53
310 c DYS119 Dystonia 9 52
311 c DYS059 Dystonia 16 48
312 P TRT019 Torticollis 47
313 c ACT076 Acute Myocarditis 47
314 c FML363 Familial Adult Myoclonic Epilepsy 45
315 CPM001 Cap Myopathy 44
316 c MYC083 Myoclonic Epilepsy, Familial Infantile 41
317 RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 40
318 c MYS076 Myasthenic Syndrome, Congenital, 8 40
319 c MYS078 Myasthenic Syndrome, Congenital, 14 40
320 MYT011 Myotonia 39
321 ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 39
322 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 38
323 c CRN209 Cornelia De Lange Syndrome 5 37
324 MNC011 Minicore Myopathy with External Ophthalmoplegia 37
325 c DYS146 Dystonia 24 37
326 c MTC078 Mitochondrial Dna Depletion Syndrome 11 37
327 c DYS172 Dystonia 27 36
328 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 34
329 c MYC068 Myoclonic Epilepsy of Infancy 34
330 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 33
331 c DYS145 Dystonia 23 33
332 c EPL188 Epilepsy, Progressive Myoclonic, 10 32
333 ERL030 Early-Onset Generalized Limb-Onset Dystonia 32
334 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 32
335 DYS198 Dystonia, Focal, Task-Specific 31
336 NDL002 Nodular Tenosynovitis 31
337 c SPS013 Spastic Paraplegia 8 31
338 MYP097 Myopathy with Lactic Acidosis, Hereditary 31
339 c CRN134 Cornelia De Lange Syndrome 2 30
340 c HRD198 Hereditary Dystonia 30
341 c EPL155 Epilepsy, Progressive Myoclonic, 8 29
342 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 29
343 c EPL154 Epilepsy, Progressive Myoclonic, 9 29
344 c EPL207 Epilepsy, Progressive Myoclonic, 1b 29
345 c EPL134 Epilepsy, Progressive Myoclonic 7 29
346 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 28
347 c EPL210 Epilepsy, Progressive Myoclonic, 6 28
348 MYP067 Myopathy, Distal, Tateyama Type 28
349 c MYS077 Myasthenic Syndrome, Congenital, 15 28
350 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 28
351 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 27
352 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 25
353 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 25
354 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 25
355 MYP114 Myopathy, Scapulohumeroperoneal 24
356 c CNG129 Congenital Torticollis 23
357 c MYC085 Myoclonic Epilepsy, Juvenile 3 22
358 c DYS138 Dystonia 21 22
359 c DST092 Distal Hereditary Motor Neuropathy Type 7 22
360 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
361 MYP155 Myopathy, Congenital, with Tremor 22
362 MSC193 Muscular Lipidosis 22
363 c MYF010 Myofibromatosis, Infantile, 2 21
364 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
365 c KMT002 Kmt2b-Related Dystonia 20
366 c EPL254 Epilepsy, Progressive Myoclonic, 11 20
367 c MYC086 Myoclonic Epilepsy, Juvenile 4 19
368 c EPL009 Epilepsy Progressive Myoclonic Type 3 18
369 c INF055 Infectious Myocarditis 17
370 P FBR081 Fibrosis of Extraocular Muscles, Congenital, 3c 15
371 c EPL186 Epilepsy, Juvenile Myoclonic 9 15
372 HMF003 Hemifacial Myohyperplasia 14
373 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 14
374 MSC026 Muscular Dystrophy White Matter Spongiosis 13
375 FBR096 Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence 13
376 MSC192 Muscular Glycogenosis 12
377 OCL023 Ocular Muscular Dystrophy 12
378 c EPL257 Epilepsy, Progressive Myoclonic, 12 12
379 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 12
380 TRC088 Trochleitis 12
381 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 12
382 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 12
383 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 11
384 LM2002 Lama2 Muscular Dystrophy 11
385 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
386 HYP751 Hypertrophia Musculorum Vera 11
387 UDD002 Udd Distal Myopathy - Tibial Muscular Dystrophy 10
388 AN5002 Ano5 Muscle Disease 9
389 EPS012 Episodic Muscle Weakness, X-Linked 9
390 MSC153 Muscular Dystrophy, Cardiac Type 9
391 MSC144 Muscular Atrophy, Malignant Neurogenic 9
392 HRD222 Hereditary Continuous Muscle Fiber Activity 9
393 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
394 MSC151 Muscular Hypertonia, Lethal 9
395 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
396 c RRD039 Rare Dystonia 9
397 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
398 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
399 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
400 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
401 MSC054 Muscle Strength Quantitative Trait Locus 1 8
402 TBL002 Tibial Collateral Ligament Bursitis 8
403 MSC194 Muscular Tumor 7
404 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 7
405 MSC145 Muscular Dystrophy, Barnes Type 7
406 PLM161 Palmaris Longus Muscle, Absence of 7
407 PRN065 Peroneus Tertius Muscle, Absence of 7
408 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
409 MSC197 Muscular Channelopathy 7
410 MSC155 Muscular Dystrophy, Mabry Type 6
411 GNT125 Genetic Skeletal Muscle Disease 6
412 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
413 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
414 LTN025 Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies 4
415 FBL001 Fibular Collateral Ligament Bursitis 4
416 CNG050 Congenital Absence of the Sternocleidomastoid Muscle 4
417 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 4
418 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 3
419 GNR047 Generalized Bulbospinal Muscular Atrophy 3
420 BLB006 Bulbospinal Muscular Atrophy of Adult 3
421 BLB007 Bulbospinal Muscular Atrophy of Childhood 3
422 CHL130 Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome 3
423 HYP853 Hypercontractile Muscle Stiffness Syndrome 3
424 MSC198 Musculoskeletal Disease with Cataract 3
425 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
426 P NRL027 Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect 3
427 c NRL029 Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect 3
428 c NRL030 Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect 3
429 LMN007 Laminopathy with Striated Muscle Involvement 2
430 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 1
431 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 1
432 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 1
433 P MYP004 Myopathy 67
434 FBR047 Fibromyalgia 58
435 P CNT004 Centronuclear Myopathy 57
436 EBL001 Ebola Hemorrhagic Fever 56
437 c MYP072 Myopathy, Myofibrillar, 1 55
438 P SCK002 Sick Sinus Syndrome 55
439 P ATR001 Atrioventricular Septal Defect 55
440 FRZ001 Frozen Shoulder 55
441 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 53
442 SPS003 Spastic Diplegia 53
443 GSG001 Gas Gangrene 52
444 ANK001 Ankylosis 51
445 P MTC133 Mitochondrial Myopathy 50
446 P CMP008 Compartment Syndrome 50
447 47X002 47,xyy 48
448 SNT005 Sinoatrial Node Disease 47
449 BCK006 Back Pain 47
450 MYF002 Myofascial Pain Syndrome 46
451 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45
452 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 44
453 CHR667 Chromosome 3pter-P25 Deletion Syndrome 42
454 MTC004 Mitochondrial Encephalomyopathy 42
455 c MYP081 Myopathy, Myofibrillar, 6 41
456 P MYG005 Myoglobinuria 40
457 49X006 49, Xxxxy Syndrome 40
458 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 38
459 c SVR040 Severe Congenital Nemaline Myopathy 37
460 CHR387 Chromosome Xp21 Deletion Syndrome 37
461 WHP002 Whiplash 36
462 c INT274 Intermediate Congenital Nemaline Myopathy 36
463 DPH006 Diaphragmatic Eventration 34
464 MYP038 Myopathy, Congenital, Compton-North 33
465 CLC004 Calcific Tendinitis 33
466 MYS016 Myosclerosis, Autosomal Recessive 33
467 MYP120 Myopathy, Distal, with Rimmed Vacuoles 32
468 c CNG112 Congenital Muscular Dystrophy Type 1a 32
469 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 31
470 INT013 Intramuscular Hemangioma 31
471 FCL049 Focal Hand Dystonia 31
472 DFF004 Diffuse Peritoneal Leiomyomatosis 30
473 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 29
474 ANS018 Anismus 29
475 MYB001 Myoblastoma 28
476 CNV006 Conventional Leiomyosarcoma 27
477 DMT001 Dimethylglycine Dehydrogenase Deficiency 27
478 MCR067 Microcoria, Congenital 27
479 LPN001 Louping Ill 27
480 c ATR047 Atrioventricular Septal Defect 2 26
481 P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 26
482 c ATR067 Atrioventricular Septal Defect 4 26
483 BCP001 Bicipital Tenosynovitis 26
484 CNG032 Congenital Structural Myopathy 25
485 c INF031 Inflammatory Leiomyosarcoma 25
486 ART136 Arthrogryposis, Distal, with Impaired Proprioception and Touch 25
487 MYX006 Myxoid Leiomyosarcoma 24
488 PLY114 Polyglucosan Body Myopathy 2 24
489 MTC025 Mitochondrial Myopathy with Diabetes 24
490 IMG002 Imagawa-Matsumoto Syndrome 24
491 c ATR071 Atrioventricular Septal Defect 5 23
492 GRN036 Granulomatous Myositis 23
493 MYP157 Myopathy, Congenital, with Structured Cores and Z-Line Abnormalities 23
494 BLP009 Blepharonasofacial Malformation Syndrome 23
495 c ATR064 Atrioventricular Septal Defect 3 22
496 c ANT010 Anterior Compartment Syndrome 22
497 MYP156 Myopathy, Congenital, Progressive, with Scoliosis 21
498 EPD011 Epidemic Pleurodynia 21
499 MYS002 Myositis Fibrosa 20
500 LVT001 Levator Syndrome 19
501 TBL004 Tibialis Tendinitis 19
502 MYP026 Myopathy - Thyrotoxic 18
503 c CNG579 Congenital Nemaline Myopathy 18
504 MYP039 Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 17
505 c CNG563 Congenital Myopathy with Cores 16
506 c MYG006 Myoglobinuria, Autosomal Dominant 15
507 LCT008 Lactate Dehydrogenase Deficiency 14
508 SPR003 Superior Vena Cava Leiomyosarcoma 12
509 c QLT007 Qualitative or Quantitative Defects of Delta-Sarcoglycan 11
510 c QLT013 Qualitative or Quantitative Defects of Beta-Sarcoglycan 10
511 c INT382 Intermediate Atrioventricular Septal Defect 10
512 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 10
513 ANS008 Anus Rhabdomyosarcoma 6
514 MDS008 Mediastinum Rhabdomyosarcoma 5
515 TNS002 Tenosynovitis of Foot and Ankle 3
516 c QLT006 Qualitative or Quantitative Defects of Gamma-Sarcoglycan 2
517 c QLT012 Qualitative or Quantitative Defects of Alpha-Sarcoglycan 2
518 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 49
519 c GLY097 Glycogen Storage Disease Ixb 44
520 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 33
521 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 37
522 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 21
523 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 33
524 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 33
525 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 29
526 P CRP001 Carpal Tunnel Syndrome 66
527 RND001 Round Ligament Malignant Neoplasm 9
528 DSM004 Desmoid Tumor 66
529 P CHR071 Charcot-Marie-Tooth Disease 64
530 STY001 Satoyoshi Syndrome 30
531 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 29
532 c EPS035 Episodic Ataxia, Type 2 63
533 P EPS003 Episodic Ataxia 59
534 c EPS042 Episodic Ataxia, Type 1 58
535 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 51
536 c EPS017 Episodic Ataxia, Type 6 44
537 ABD002 Abducens Nerve Disease 38
538 c EPS034 Episodic Ataxia, Type 5 38
539 c EPS037 Episodic Ataxia, Type 4 28
540 c EPS015 Episodic Ataxia, Type 7 28
541 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 27
542 c EPS014 Episodic Ataxia, Type 3 27
543 c HRD212 Hereditary Episodic Ataxia 26
544 c EPS048 Episodic Ataxia, Type 9 26
545 c EPS033 Episodic Ataxia, Type 8 19
546 QZM001 Qazi Markouizos Syndrome 19
547 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 50
548 PLN006 Poland Syndrome 44
549 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
550 c NRN050 Neuronopathy, Distal Hereditary Motor, Type Vc 23
551 BRD006 Broad Ligament Malignant Neoplasm 8
552 c DLT002 Dilated Cardiomyopathy 78
553 c DYS056 Dystonia 12 63
554 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57
555 P NRC002 Narcolepsy 56
556 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55
557 c CRD093 Cardiomyopathy, Dilated, 1a 53
558 c CRD099 Cardiomyopathy, Dilated, 1e 53
559 P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 48
560 c CRD233 Cardiomyopathy, Dilated, 1b 46
561 AMY086 Amyotrophy, Hereditary Neuralgic 45
562 c CRD097 Cardiomyopathy, Dilated, 1d 45
563 c CRD069 Cardiomyopathy, Dilated, 1h 42
564 c CRD105 Cardiomyopathy, Dilated, 1o 41
565 c CRD102 Cardiomyopathy, Dilated, 1j 41
566 c CRD091 Cardiomyopathy, Dilated, 1dd 40
567 c CRD090 Cardiomyopathy, Dilated, 1l 40
568 c CRD080 Cardiomyopathy, Dilated, 1g 39
569 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39
570 SLH001 Salih Myopathy 38
571 MDN008 Median Arcuate Ligament Syndrome 37
572 c CRD082 Cardiomyopathy, Dilated, 1gg 37
573 c CRD114 Cardiomyopathy, Dilated, 1m 36
574 c CRD104 Cardiomyopathy, Dilated, 1p 35
575 c LMN001 Lmna-Related Dilated Cardiomyopathy 34
576 c HRD138 Hereditary Motor and Sensory Neuropathy V 32
577 c CRD101 Cardiomyopathy, Dilated, 1x 31
578 c CRD096 Cardiomyopathy, Dilated, 1ee 31
579 c CRD155 Cardiomyopathy, Dilated, 1kk 30
580 c ATM102 Autoimmune Cardiomyopathy 29
581 c CRD107 Cardiomyopathy, Dilated, 1r 28
582 MYP163 Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay 27
583 c CRD111 Cardiomyopathy, Dilated, 1i 25
584 PRF003 Piriformis Syndrome 25
585 c CRD159 Cardiomyopathy, Dilated, 1hh 25
586 c CRD149 Cardiomyopathy, Dilated, 1jj 24
587 c CRD092 Cardiomyopathy, Dilated, 1w 24
588 c CRD113 Cardiomyopathy, Dilated, 1v 24
589 c CRD112 Cardiomyopathy, Dilated, 1u 24
590 c CRD063 Cardiomyopathy, Dilated, 2a 23
591 c CRD162 Cardiomyopathy, Dilated, 1ii 23
592 c CRD064 Cardiomyopathy, Dilated, 1ff 23
593 c CRD153 Cardiomyopathy, Dilated, 2b 23
594 c CRD115 Cardiomyopathy, Dilated, 1cc 23
595 c CRD108 Cardiomyopathy, Dilated, 1bb 22
596 c DLT017 Dilated Cardiomyopathy 1t 22
597 c CRD060 Cardiomyopathy, Dilated, 1z 21
598 c CRD173 Cardiomyopathy, Dilated, 1nn 21
599 c CRD244 Cardiomyopathy, Dilated, 2c 20
600 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 17
601 P RRC004 Rare Cardiomyopathy 16
602 c CRD070 Cardiomyopathy, Dilated, 1k 13
603 c CRD071 Cardiomyopathy, Dilated, 1q 13
604 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 12
605 c CRD027 Cardiomyopathy Due to Anthracyclines 9
606 P HYP370 Hypokalemic Periodic Paralysis, Type 1 64
607 LMY014 Leiomyoma, Uterine 56
608 RSS026 Roussy-Levy Hereditary Areflexic Dystasia 46
609 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 45
610 c HYP606 Hypokalemic Periodic Paralysis, Type 2 37
611 NCR015 Necrotizing Autoimmune Myopathy 27
612 P SKL032 Skeletal Muscle Disease 25
613 CNN005 Connective Tissue Disease 67
614 P MTR014 Motor Neuron Disease 65
615 NRM005 Neuromuscular Disease 63
616 CNV004 Canavan Disease 62
617 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
618 P LTR001 Lateral Sclerosis 58
619 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56
620 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 56
621 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 51
622 CRT033 Corticobasal Degeneration 47
623 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 47
624 P HYP265 Hypotonia 42
625 ALC010 Alcoholic Cardiomyopathy 42
626 c DST106 Distal Hereditary Motor Neuronopathy Type 2 41
627 c PRM092 Primary Lateral Sclerosis, Adult, 1 38
628 P PRS124 Presynaptic Congenital Myasthenic Syndromes 36
629 c PRM195 Primary Lateral Sclerosis, Juvenile 35
630 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 35
631 P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 33
632 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 32
633 P TRC015 Trochlear Nerve Disease 27
634 MGB001 Megabladder, Congenital 23
635 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 23
636 P DST101 Distal Hereditary Motor Neuropathies 23
637 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 22
638 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 21
639 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
640 FLP002 Floppy Infant Syndrome 13
641 UTR040 Uterine Ligament Adenocarcinoma 8
642 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
643 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
644 UTR012 Uterine Ligament Serous Adenocarcinoma 5
645 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
646 c ACQ067 Acquired Motor Neuron Disease 5
647 c RRT018 Rare Trochlear Nerve Disorder 4
648 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70
649 c HMP004 Hemophilia B 68
650 P CNG001 Congenital Myasthenic Syndrome 68
651 c HMP029 Hemophilia a 68
652 P EPL164 Epilepsy 68
653 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63
654 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
655 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 58
656 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 58
657 c BNG023 Benign Familial Infantile Epilepsy 57
658 CRB150 Cerebral Creatine Deficiency Syndrome 2 54
659 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
660 STF002 Stiff Skin Syndrome 53
661 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
662 c LKD019 Leukodystrophy, Hypomyelinating, 6 52
663 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
664 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
665 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 51
666 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 50
667 c MTC060 Mitochondrial Dna Depletion Syndrome 9 50
668 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 50
669 c CRD187 Cardiomyopathy, Dilated, 3b 48
670 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 48
671 c LKD010 Leukodystrophy, Hypomyelinating, 2 48
672 c MTC059 Mitochondrial Dna Depletion Syndrome 5 48
673 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 48
674 c MTC061 Mitochondrial Dna Depletion Syndrome 1 47
675 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 47
676 c MTC058 Mitochondrial Dna Depletion Syndrome 6 47
677 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47
678 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 47
679 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 46
680 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 45
681 MLT075 Multifocal Motor Neuropathy 45
682 c ACQ014 Acquired Hemophilia 45
683 c MYS074 Myasthenic Syndrome, Congenital, 12 45
684 c LKD009 Leukodystrophy, Hypomyelinating, 5 45
685 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 45
686 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 45
687 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 44
688 ADN022 Adenylosuccinase Deficiency 44
689 c MYS052 Myasthenic Syndrome, Congenital, 10 43
690 c MTC062 Mitochondrial Dna Depletion Syndrome 2 43
691 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 43
692 MLT028 Multiminicore Disease 43
693 c LKD020 Leukodystrophy, Hypomyelinating, 10 43
694 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
695 c LKD015 Leukodystrophy, Hypomyelinating, 3 42
696 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 42
697 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 41
698 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 41
699 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 41
700 MTR007 Motor Peripheral Neuropathy 40
701 P CRB045 Cerebellar Hypoplasia 40
702 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 39
703 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 39
704 CRB148 Cerebral Creatine Deficiency Syndrome 3 39
705 c MYS075 Myasthenic Syndrome, Congenital, 13 39
706 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39
707 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 38
708 c LKD023 Leukodystrophy, Hypomyelinating, 12 38
709 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 38
710 c GLY009 Glycogen Storage Disease Xv 37
711 c ACQ042 Acquired Hemophilia a 37
712 DYS140 Dyskinesia, Familial, with Facial Myokymia 37
713 P SPN448 Spondyloepimetaphyseal Dysplasia with Joint Laxity 37
714 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 37
715 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 36
716 FCL041 Focal Myositis 36
717 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 36
718 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 36
719 c LKD008 Leukodystrophy, Hypomyelinating, 4 36
720 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 35
721 c MYS067 Myasthenic Syndrome, Congenital, 22 35
722 ART163 Arthrogryposis Multiplex Congenita 2, Neurogenic Type 35
723 c LKD021 Leukodystrophy, Hypomyelinating, 11 35
724 FTD001 Foot Drop 35
725 c LKD016 Leukodystrophy, Hypomyelinating, 9 34
726 P HYP700 Hypomyelinating Leukodystrophy 34
727 BRC010 Brachial Plexus Lesion 34
728 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 34
729 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 33
730 P OCL076 Oculopharyngodistal Myopathy 1 32
731 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 32
732 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 32
733 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
734 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 30
735 c MYS044 Myasthenic Syndrome, Congenital, 7, Presynaptic 29
736 c INF185 Infantile Epilepsy Syndrome 29
737 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 27
738 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 27
739 c LKD031 Leukodystrophy, Hypomyelinating, 18 25
740 HRD141 Hereditary Proximal Myopathy with Early Respiratory Failure 25
741 c DST105 Distal Hereditary Motor Neuronopathy Type 7 24
742 MLN064 Melanoma of Soft Tissue 24
743 c LKD027 Leukodystrophy, Hypomyelinating, 14 24
744 PLM104 Palmoplantar Keratoderma, Nagashima Type 24
745 c MTC182 Mitochondrial Dna Depletion Syndrome 16 23
746 c LKD028 Leukodystrophy, Hypomyelinating, 15 23
747 48X002 48,xxxy Syndrome 23
748 c LKD030 Leukodystrophy, Hypomyelinating, 17 23
749 c CRB209 Cerebellar Malformation 23
750 c LKD022 Leukodystrophy, Hypomyelinating, 13 22
751 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 22
752 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
753 c INF065 Infantile Hypotonia 21
754 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
755 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
756 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 20
757 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 20
758 c LKD029 Leukodystrophy, Hypomyelinating, 16 20
759 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 20
760 c LKD033 Leukodystrophy, Hypomyelinating, 20 20
761 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
762 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
763 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 19
764 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 17
765 c RRP028 Rare Epilepsy 17
766 c MTC014 Mitochondrial Dna Deletion Syndromes 16
767 c KCN020 Kcnt1-Related Epilepsy 13
768 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 13
769 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 13
770 c DPD002 Depdc5-Related Epilepsy 13
771 XLN239 X-Linked Distal Hereditary Motor Neuropathy 12
772 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
773 c ATS428 Autosomal Recessive Distal Hereditary Motor Neuropathy 12
774 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
775 INV014 Inverse Klippel-Trenaunay Syndrome 11
776 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
777 MSC143 Muscle Cramps, Familial 8
778 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 7
779 ACR045 Acro-Pectoro-Renal Field Defect 5
780 c ACQ057 Acquired Skeletal Muscle Disease 4
781 c INF176 Infectious Disease with Epilepsy 4
782 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 4
783 DSR016 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement 4
784 SPN436 Spinal Muscular Atrophy Associated with Central Nervous System Anomaly 3
785 GNT172 Genetic Neurological Muscular Channelopathy 3
786 c NRL028 Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect 3
787 c NRL031 Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect 3
788 c AMY091 Amyotrophic Lateral Sclerosis 1 88
789 P CRN300 Coronary Heart Disease 1 73
790 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68
791 c LNG044 Long Qt Syndrome 1 66
792 HLT001 Holt-Oram Syndrome 66
793 P MLG056 Malignant Hyperthermia 66
794 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 65
795 P LNG028 Long Qt Syndrome 64
796 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64
797 SPN186 Spinal Cord Injury 61
798 P DRM010 Dermatomyositis 61
799 YLL002 Yellow Fever 61
800 c LNG047 Long Qt Syndrome 2 59
801 PSD012 Pseudoachondroplasia 59
802 c ART061 Arthrogryposis, Distal, Type 2a 58
803 c MYT020 Myotonic Dystrophy 2 57
804 c FML191 Familial Long Qt Syndrome 55
805 HYP706 Hypermobile Ehlers-Danlos Syndrome 55
806 CHR073 Choreatic Disease 54
807 TND005 Tendinitis 54
808 c LNG048 Long Qt Syndrome 3 53
809 P THY054 Thyrotoxic Periodic Paralysis 50
810 c MYP078 Myopathy, Myofibrillar, 3 50
811 TBL009 Tibial Muscular Dystrophy 50
812 P MYF003 Myofibrillar Myopathy 49
813 c CHR095 Chronic Progressive External Ophthalmoplegia 49
814 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 49
815 P ART106 Arterial Calcification, Generalized, of Infancy, 1 48
816 c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 48
817 P MTC010 Mitochondrial Dna Depletion Syndrome 47
818 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 46
819 GRW007 Growth Hormone Deficiency 46
820 SPS007 Spastic Cerebral Palsy 46
821 c LNG050 Long Qt Syndrome 5 46
822 c LNG051 Long Qt Syndrome 6 45
823 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 45
824 QBC001 Quebec Platelet Disorder 44
825 MYS001 Myositis Ossificans 44
826 c AMY090 Amyotrophic Lateral Sclerosis 8 43
827 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 43
828 TRC026 Tracheal Disease 43
829 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 42
830 BRK012 Broken Heart Syndrome 42
831 DPH021 Diaphragm Disease 42
832 PYM001 Pyomyositis 42
833 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 42
834 ORB013 Orbital Disease 42
835 c LNG098 Long Qt Syndrome 14 42
836 CHR659 Chromosome 22q11.2 Duplication Syndrome 42
837 c LNG053 Long Qt Syndrome 9 42
838 FCL022 Focal Dystonia 42
839 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 41
840 c LNG096 Long Qt Syndrome 15 41
841 c LNG045 Long Qt Syndrome 10 41
842 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 41
843 c LNG056 Long Qt Syndrome 12 41
844 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 41
845 URT031 Ureteral Disease 41
846 P MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 40
847 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 40
848 c LNG057 Long Qt Syndrome 13 40
849 SPN009 Spindle Cell Rhabdomyosarcoma 39
850 MLT016 Multicentric Reticulohistiocytosis 39
851 c AMY069 Amyotrophic Lateral Sclerosis 21 39
852 c LNG046 Long Qt Syndrome 11 39
853 c AMY083 Amyotrophic Lateral Sclerosis 11 39
854 PHS018 Phosphorylase Kinase Deficiency 39
855 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 38
856 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 38
857 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 38
858 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 37
859 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 37
860 c AMY085 Amyotrophic Lateral Sclerosis 9 36
861 HYP264 Hypertonia 36
862 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 36
863 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 35
864 SHL001 Shoulder Impingement Syndrome 35
865 c MYP095 Myopathy, Distal, 4 34
866 PLY021 Polyradiculopathy 34
867 c TRM024 Tremor, Hereditary Essential, 1 34
868 c THY084 Thyrotoxic Periodic Paralysis 1 34
869 c AMY059 Amyotrophic Lateral Sclerosis 19 34
870 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 34
871 c AMY067 Amyotrophic Lateral Sclerosis 18 34
872 c AMY023 Amyotrophic Lateral Sclerosis Type 6 34
873 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33
874 7Q1002 7q11.23 Duplication Syndrome 33
875 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 33
876 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 33
877 c MYS064 Myasthenic Syndrome, Congenital, 16 33
878 c AMY022 Amyotrophic Lateral Sclerosis Type 5 33
879 c ADL027 Adult Dermatomyositis 32
880 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
881 ADR023 Adrenomyodystrophy 32
882 CLL038 Collagen Vi-Related Myopathy 31
883 SPS016 Spasmodic Dysphonia 31
884 DYS001 Dyskinetic Cerebral Palsy 31
885 c AMY088 Amyotrophic Lateral Sclerosis 3 31
886 c AMY063 Amyotrophic Lateral Sclerosis 20 31
887 c CRN214 Coronary Heart Disease 5 31
888 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 31
889 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 30
890 LNG023 Lung Leiomyosarcoma 30
891 EPT011 Epithelioid Leiomyosarcoma 29
892 DST103 Distal Muscular Dystrophy with Anterior Tibial Onset 29
893 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
894 c MYP088 Myopathy, Tubular Aggregate, 2 29
895 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 29
896 PTL003 Patellar Tendinitis 29
897 c AMY081 Amyotrophic Lateral Sclerosis Type 12 28
898 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
899 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 28
900 c AMY089 Amyotrophic Lateral Sclerosis 7 28
901 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 28
902 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 27
903 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
904 MD1003 Med13l Haploinsufficiency Syndrome 27
905 c THY083 Thyrotoxic Periodic Paralysis 2 27
906 c ULL003 Ullrich Congenital Muscular Dystrophy 2 26
907 c AMY079 Amyotrophic Lateral Sclerosis Type 15 26
908 TRS001 Tarsal Tunnel Syndrome 26
909 CLN012 Colon Leiomyosarcoma 26
910 STC018 Stac3 Disorder 26
911 c CHR026 Charcot-Marie-Tooth Disease Type X 25
912 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
913 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 25
914 c LNG052 Long Qt Syndrome 8 24
915 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 24
916 OVR035 Ovary Leiomyosarcoma 24
917 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
918 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 24
919 c SCK022 Sick Sinus Syndrome 3 23
920 MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 23
921 c CHR135 Charcot-Marie-Tooth Disease Type 2a 23
922 GLL016 Gallbladder Leiomyosarcoma 23
923 c CHR571 Charcot-Marie-Tooth Disease Type 5 23
924 c AMY110 Amyotrophic Lateral Sclerosis 24 22
925 c MTC129 Mitochondrial Dna Depletion Syndrome 15 22
926 c SNG012 Singleton-Merten Syndrome 2 22
927 c LNG114 Long Qt Syndrome 16 22
928 WND002 Wandering Spleen 22
929 MSC004 Muscle Tissue Disease 22
930 c AMY108 Amyotrophic Lateral Sclerosis 23 21
931 SRB001 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy 21
932 c AMY074 Amyotrophic Lateral Sclerosis Type 14 21
933 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 21
934 c CRP037 Carpal Tunnel Syndrome 2 21
935 c CHR549 Charcot-Marie-Tooth Disease Type 2l 21
936 c MYS019 Miyoshi Muscular Dystrophy 2 20
937 c MYF011 Myofibrillar Myopathy 10 20
938 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 20
939 c AMY109 Amyotrophic Lateral Sclerosis Type 22 20
940 c AMY112 Amyotrophic Lateral Sclerosis 25 19
941 c CRN174 Coronary Heart Disease 2 19
942 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
943 BNL001 Bone Leiomyosarcoma 19
944 c CRN178 Coronary Heart Disease 6 18
945 PRX013 Proximal Chromosome 18q Deletion Syndrome 18
946 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 18
947 P WHS002 Whistling Face Syndrome, Recessive Form 18
948 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 17
949 c CRN177 Coronary Heart Disease 7 17
950 c TRD001 Tardbp-Related Amyotrophic Lateral Sclerosis 17
951 CRM010 Cramp-Fasciculation Syndrome 17
952 CNT021 Central Nervous System Rhabdomyosarcoma 17
953 c CRN172 Coronary Heart Disease 3 15
954 FBR090 Fibro-Adipose Vascular Anomaly 15
955 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 15
956 c CHR701 Charcot-Marie-Tooth Disease Type 1g 15
957 c VRL025 Viral Myositis 14
958 c CRN175 Coronary Heart Disease 4 14
959 c CRN176 Coronary Heart Disease 9 13
960 c CRN173 Coronary Heart Disease 8 13
961 P MYP124 Myopathy, Distal, Infantile-Onset 13
962 c BCT018 Bacterial Myositis 13
963 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
964 c THY119 Thyrotoxic Periodic Paralysis 3 12
965 LRY014 Larynx Leiomyosarcoma 11
966 c ATS431 Autosomal Recessive Distal Myopathy 10
967 GRN012 Granular Cell Leiomyosarcoma 10
968 BLD037 Bile Duct Rhabdomyosarcoma 10
969 P HRN027 Hernia, Anterior Diaphragmatic 9
970 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 9
971 MDS017 Mediastinum Leiomyosarcoma 9
972 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 8
973 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
974 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
975 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
976 FLL007 Fallopian Tube Leiomyosarcoma 7
977 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
978 OVR023 Ovary Rhabdomyosarcoma 7
979 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
980 ANS009 Anus Leiomyosarcoma 5
981 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
982 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
983 MYP005 Myopathy of Extraocular Muscle 5
984 c RDC017 Reducing Body Myopathy 1a 4
985 DST104 Distal Muscular Dystrophy Tateyama Type 3
986 GTL001 Gitelman Syndrome 65
987 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 54
988 SCH068 Schwartz-Jampel Syndrome, Type 1 52
989 MNT303 Mental Retardation, X-Linked, Syndromic, Cabezas Type 37
990 ENC047 Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum 29
991 CMP074 Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye 19
992 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 18
993 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
994 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 67
995 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
996 MSS001 Masa Syndrome 60
997 P MTC069 Mitochondrial Disorders 57
998 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57
999 c ESS001 Essential Tremor 57
1000 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 55
1001 P TRM003 Tremor 48
1002 c EHL085 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 46
1003 LYM009 Lymphocytic Choriomeningitis 46
1004 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 44
1005 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 43
1006 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43
1007 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 41
1008 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 39
1009 MTC037 Mitochondrial Phosphate Carrier Deficiency 35
1010 c TRM017 Tremor, Hereditary Essential, 4 33
1011 c TRM022 Tremor, Hereditary Essential, 5 28
1012 c TRM020 Tremor, Hereditary Essential, 2 26
1013 c TRM016 Tremor, Hereditary Essential, 3 21
1014 c TRM029 Tremor, Hereditary Essential, 6 19
1015 c RRM002 Rrm2b-Related Mitochondrial Disease 15
1016 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 13
1017 CMR005 Camera-Marugo-Cohen Syndrome 12
1018 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
1019 c ISC017 Isca2-Related Mitochondrial Disorder 9
1020 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
1021 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
1022 c RRT014 Rare Tremor Disorder 4
1023 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 3
1024 P PRK057 Parkinson Disease, Late-Onset 80
1025 MSC157 Muscular Dystrophy, Duchenne Type 79
1026 OST012 Osteoarthritis 77
1027 MSC152 Muscular Dystrophy, Becker Type 69
1028 c RHB024 Rhabdomyosarcoma 2 67
1029 PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 64
1030 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62
1031 P EMR001 Emery-Dreifuss Muscular Dystrophy 62
1032 P BTH005 Bethlem Myopathy 1 62
1033 ALV005 Alveolar Soft Part Sarcoma 61
1034 AVN001 Avian Influenza 61
1035 P ERL057 Early Infantile Epileptic Encephalopathy 60
1036 c ART144 Arthrogryposis, Distal, Type 1a 60
1037 NNK001 Nonaka Myopathy 58
1038 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 58
1039 ARG007 Argininemia 58
1040 GLT035 Glutaric Acidemia I 57
1041 P ALT001 Alternating Hemiplegia of Childhood 57
1042 HNT002 Hantavirus Pulmonary Syndrome 55
1043 P EPS030 Episodic Kinesigenic Dyskinesia 1 55
1044 BRD001 Brody Myopathy 55
1045 ACH005 Achalasia 55
1046 P PRN026 Porencephaly 55
1047 c EXS019 Exostoses, Multiple, Type I 54
1048 MYM001 Myoma 54
1049 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 54
1050 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
1051 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
1052 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
1053 UNV001 Unverricht-Lundborg Syndrome 53
1054 P EMB005 Embryonal Rhabdomyosarcoma 53
1055 OCL008 Oculopharyngeal Muscular Dystrophy 53
1056 CNG046 Congenital Fiber-Type Disproportion 53
1057 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 53
1058 P MSC003 Muscular Atrophy 52
1059 c PNT034 Pontocerebellar Hypoplasia, Type 2e 52
1060 P LMB006 Limb-Girdle Muscular Dystrophy 52
1061 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 51
1062 c ART119 Arthrogryposis, Distal, Type 5 51
1063 c MYP131 Myopathy, Centronuclear, 2 51
1064 LMY002 Leiomyoma 51
1065 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 50
1066 c PRK093 Parkinson Disease 8, Autosomal Dominant 49
1067 c PRK085 Parkinson Disease 1, Autosomal Dominant 49
1068 c ART120 Arthrogryposis, Distal, Type 3 49
1069 c HRD173 Hereditary Late-Onset Parkinson Disease 49
1070 P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 49
1071 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 49
1072 P MYP087 Myopathy, Tubular Aggregate, 1 49
1073 P HRD001 Hereditary Multiple Exostoses 48
1074 c MYP079 Myopathy, Myofibrillar, 5 48
1075 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 48
1076 c EHL083 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 47
1077 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 47
1078 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 47
1079 MYP100 Myopathy, X-Linked, with Excessive Autophagy 47
1080 P MYC033 Myoclonus 47
1081 TXC011 Toxocariasis 46
1082 c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 46
1083 c PNT036 Pontocerebellar Hypoplasia, Type 6 46
1084 P PNT019 Pontocerebellar Hypoplasia 46
1085 TNS014 Tenosynovitis 46
1086 P BLP003 Blepharospasm 46
1087 BRL010 Buruli Ulcer 45
1088 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
1089 EPL131 Epilepsy, Pyridoxine-Dependent 45
1090 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 45
1091 P RPP006 Rippling Muscle Disease 2 44
1092 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 44
1093 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
1094 c PRK065 Parkinson Disease 20, Early-Onset 44
1095 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
1096 P CNT009 Central Core Myopathy 43
1097 c PRK052 Parkinson Disease 17 43
1098 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
1099 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 43
1100 c MTC116 Mitochondrial Myopathy, Infantile, Transient 42
1101 c PRK071 Parkinson Disease 14, Autosomal Recessive 42
1102 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 42
1103 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42
1104 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
1105 c PNT043 Pontocerebellar Hypoplasia, Type 4 41
1106 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
1107 c ART104 Arthrogryposis, Distal, Type 5d 41
1108 c PNT032 Pontocerebellar Hypoplasia, Type 9 40
1109 PLM030 Pleomorphic Rhabdomyosarcoma 40
1110 c DYS151 Dystonia 25 40
1111 P HRD086 Hereditary Hypophosphatemic Rickets 40
1112 c MYP080 Myopathy, Myofibrillar, 4 40
1113 c MYS014 Miyoshi Muscular Dystrophy 3 40
1114 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 40
1115 c ERL056 Early-Onset Parkinson's Disease 40
1116 c NML010 Nemaline Myopathy 7 39
1117 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 39
1118 c PNT037 Pontocerebellar Hypoplasia, Type 3 39
1119 P SPN370 Spondylodysplastic Ehlers-Danlos Syndrome 39
1120 c ALT008 Alternating Hemiplegia of Childhood 1 39
1121 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 39
1122 SMT002 Smooth Muscle Tumor 39
1123 c NML005 Nemaline Myopathy 4 38
1124 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
1125 c EXS020 Exostoses, Multiple, Type Ii 38
1126 c FML084 Familial Porencephaly 38
1127 c FML272 Familial Sick Sinus Syndrome 37
1128 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 37
1129 c PRK091 Parkinson Disease 4, Autosomal Dominant 37
1130 c BLP048 Blepharospasm, Benign Essential 37
1131 MSC190 Muscular Disease 37
1132 MYT003 Myotonic Disease 36
1133 c PRK070 Parkinson Disease 21 36
1134 c DYS067 Dystonia 6, Torsion 36
1135 c ATM022 Autoimmune Myocarditis 36
1136 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 36
1137 c PNT033 Pontocerebellar Hypoplasia, Type 10 35
1138 c MYS056 Myasthenic Syndrome, Congenital, 17 35
1139 c B4G002 B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome 35
1140 RCK002 Rocky Mountain Spotted Fever 34
1141 TLS001 Tolosa-Hunt Syndrome 34
1142 c SCK017 Sick Sinus Syndrome 1 34
1143 c BTH006 Bethlem Myopathy 2 33
1144 c ART060 Arthrogryposis, Distal, Type 1b 33
1145 c HMF011 Hemifacial Spasm, Familial 33
1146 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 33
1147 c PRK025 Parkinson Disease 10 33
1148 RMN001 Rumination Disorder 33
1149 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
1150 c EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 33
1151 ADN075 Adenomyoma 32
1152 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 32
1153 c PRG106 Progressive Muscular Dystrophy 32
1154 c PNT030 Pontocerebellar Hypoplasia, Type 8 32
1155 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 31
1156 c XLN110 X-Linked Charcot-Marie-Tooth Disease 31
1157 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 31
1158 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
1159 PRL013 Paralytic Poliomyelitis 30
1160 ATR076 Atrophic Muscular Disease 30
1161 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1162 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 30
1163 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 29
1164 c ALT007 Alternating Hemiplegia of Childhood 2 29
1165 c PNT050 Pontocerebellar Hypoplasia, Type 11 28
1166 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 28
1167 c ART131 Arthrogryposis, Distal, Type 4 28
1168 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 28
1169 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
1170 PLM004 Pulmonary Artery Leiomyosarcoma 28
1171 c ART128 Arthrogryposis, Distal, Type 6 28
1172 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
1173 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
1174 c ACQ029 Acquired Porencephaly 27
1175 c EPS013 Episodic Kinesigenic Dyskinesia 2 27
1176 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
1177 49X001 49, Xxxxx 27
1178 HYD030 Hydroxykynureninuria 27
1179 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
1180 CMP017 Camptocormism 26
1181 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 26
1182 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 26
1183 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
1184 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
1185 c PNT053 Pontocerebellar Hypoplasia, Type 13 26
1186 P PRR032 Pura-Related Neurodevelopmental Disorders 25
1187 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
1188 c MYC089 Myoclonus, Familial, 1 25
1189 c PRK083 Parkinson Disease 22, Autosomal Dominant 25
1190 c JVN058 Juvenile-Onset Parkinson's Disease 25
1191 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
1192 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 25
1193 c ART102 Arterial Calcification, Generalized, of Infancy, 2 25
1194 c ART156 Arthrogryposis, Distal, Type 2b2 25
1195 ART164 Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect 24
1196 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
1197 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
1198 c MYP116 Myopathy, Distal, 5 24
1199 MYC001 Myoclonic Cerebellar Dyssynergia 24
1200 OGL001 Ogilvie Syndrome 24
1201 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
1202 c ADL068 Adult-Onset Nemaline Myopathy 23
1203 WCK004 Wieacker-Wolff Syndrome, Female-Restricted 22
1204 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
1205 c PRK096 Parkinson Disease 13, Autosomal Dominant 22
1206 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
1207 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
1208 MYP150 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 22
1209 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
1210 PLM003 Pulmonary Vein Leiomyosarcoma 21
1211 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
1212 c MYP158 Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 20
1213 c EXS021 Exostoses, Multiple, Type Iii 20
1214 c MLG149 Malignant Hyperthermia 3 20
1215 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 19
1216 c ART168 Arthrogryposis, Distal, Type 1c 19
1217 c GRN052 Grin2b-Related Neurodevelopmental Disorder 18
1218 c CHD006 Chd2-Related Neurodevelopmental Disorders 18
1219 c PRK058 Parkinson Disease 16 18
1220 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 18
1221 c CV3001 Cav3-Related Distal Myopathy 17
1222 MYS010 Myostatin-Related Muscle Hypertrophy 17
1223 CNM001 Canomad Syndrome 17
1224 c PRK022 Parkinson Disease 12 17
1225 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 16
1226 CYL003 Cylindrical Spirals Myopathy 16
1227 c MYC090 Myoclonus, Familial, 2 16
1228 c MYF012 Myofibrillar Myopathy 11 15
1229 c ART054 Arthrogryposis, Distal, Type 2e 14
1230 c GRN056 Grin1-Related Neurodevelopmental Disorder 13
1231 c VPS003 Vps35-Related Parkinson Disease 12
1232 c DDX004 Ddx3x-Related Neurodevelopmental Disorder 10
1233 GLL014 Gallbladder Rhabdomyosarcoma 10
1234 c PPP002 Ppp2r5d-Related Neurodevelopmental Disorder 8
1235 c PRM322 Primary Myoclonus 7
1236 P TTL001 Total Internal Ophthalmoplegia 6
1237 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
1238 MXD015 Mixed Type Rhabdomyosarcoma 5
1239 c BNG038 Benign Autosomal Dominant Myopathy 5
1240 c RRM008 Rare Myoclonus 5
1241 c RRD027 Rare Disease with Malignant Hyperthermia 4
1242 STR082 Striated Muscle Rhabdoid Tumor 4
1243 c ARX003 Arx-Related Epileptic Encephalopathy 4
1244 c ATS473 Autosomal Recessive Whistling Face Syndrome 3
1245 RMS003 Ramsay Hunt Syndrome I 3
1246 OSS012 Osseous Heteroplasia, Progressive 61
1247 c PRD013 Periodic Fever, Familial, Autosomal Dominant 68
1248 P HRD214 Hereditary Periodic Fever Syndrome 30
1249 P AMY004 Amyloidosis 70
1250 P RHB003 Rhabdomyosarcoma 66
1251 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 66
1252 c DPH024 Diaphragmatic Hernia, Congenital 64
1253 P HYP097 Hyperekplexia 62
1254 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
1255 LNN001 Lennox-Gastaut Syndrome 61
1256 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 61
1257 DNT005 Dentatorubral-Pallidoluysian Atrophy 60
1258 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
1259 P PLY041 Polymyositis 59
1260 c PSR021 Psoriasis 14, Pustular 58
1261 P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 57
1262 c LSS005 Lissencephaly 1 57
1263 P URF003 Urofacial Syndrome 1 56
1264 P MYS005 Myositis 56
1265 c LSS006 Lissencephaly 2 55
1266 P MYT023 Myotonia Congenita 55
1267 MYP159 Myopathy, Proximal, with Ophthalmoplegia 55
1268 c ALM001 Al Amyloidosis 54
1269 CNT099 Contractural Arachnodactyly, Congenital 54
1270 P FML012 Familial Partial Lipodystrophy 54
1271 P MYS079 Miyoshi Muscular Dystrophy 54
1272 BTT016 Batten-Turner Congenital Myopathy 53
1273 c MYS033 Miyoshi Muscular Dystrophy 1 52
1274 P D2H002 D-2-Hydroxyglutaric Aciduria 1 52
1275 RDC002 Radiculopathy 52
1276 P LSS002 Lissencephaly 50
1277 c L2H001 L-2-Hydroxyglutaric Aciduria 49
1278 MSC072 Muscle Cancer 48
1279 P HRD021 Hereditary Sensory Neuropathy 48
1280 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 48
1281 c AMY009 Amyloidosis Aa 47
1282 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 47
1283 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 47
1284 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
1285 c LPD021 Lipodystrophy, Familial Partial, Type 3 46
1286 c HRD039 Hereditary Amyloidosis 45
1287 LSS001 Loiasis 45
1288 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 45
1289 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 45
1290 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 44
1291 c HYP699 Hyperekplexia 1 44
1292 c NRC009 Narcolepsy 1 44
1293 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44
1294 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 43
1295 c LPD019 Lipodystrophy, Partial, Acquired 42
1296 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 42
1297 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 42
1298 c PRG001 Progressive Muscular Atrophy 41
1299 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
1300 MNK002 Monkeypox 41
1301 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41
1302 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 41
1303 HYL005 Hyaline Body Myopathy 41
1304 c MYT029 Myotonia Congenita, Autosomal Recessive 40
1305 c LPD030 Lipodystrophy, Familial Partial, Type 5 40
1306 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 39
1307 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 39
1308 c NRP039 Neuropathy, Hereditary Sensory, Type Id 39
1309 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 38
1310 c 2HY001 2-Hydroxyglutaric Aciduria 38
1311 P HMF004 Hemifacial Spasm 38
1312 c LSS010 Lissencephaly 4 38
1313 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 38
1314 P PST059 Pustular Psoriasis 38
1315 c LSS009 Lissencephaly 3 38
1316 P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 37
1317 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 37
1318 EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36
1319 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 36
1320 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 35
1321 c NRC010 Narcolepsy 2 35
1322 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35
1323 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 35
1324 c D2H003 D-2-Hydroxyglutaric Aciduria 2 35
1325 c MYT027 Myotonia Congenita, Autosomal Dominant 34
1326 GLY099 Glycogen Storage Disease Ixa1 34
1327 MYP035 Myopathy, Distal, with Anterior Tibial Onset 33
1328 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 33
1329 PRG007 Progressive Bulbar Palsy 33
1330 c HYP519 Hyperekplexia 3 33
1331 P RDC010 Reducing Body Myopathy 33
1332 c INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 33
1333 c MYP098 Myopathy, Centronuclear, 4 33
1334 c LPD036 Lipodystrophy, Familial Partial, Type 6 33
1335 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 33
1336 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 32
1337 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 32
1338 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32
1339 P SCP010 Scapuloperoneal Myopathy 32
1340 c LPD040 Lipodystrophy, Familial Partial, Type 1 32
1341 MLT177 Multisystem Proteinopathy 31
1342 c INC031 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 31
1343 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 30
1344 c MYP118 Myopathy, Myofibrillar, 8 30
1345 c NRP036 Neuropathy, Hereditary Sensory, Type if 30
1346 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 29
1347 SPR108 Suprabulbar Paresis, Congenital 28
1348 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
1349 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 28
1350 SKL003 Skeletal Muscle Cancer 28
1351 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 28
1352 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 28
1353 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 28
1354 NRD058 Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures 27
1355 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 27
1356 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
1357 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 27
1358 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 27
1359 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 27
1360 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 27
1361 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 26
1362 c ART157 Arthrogryposis, Distal, Type 2b3 25
1363 c HYP510 Hyperekplexia 2 25
1364 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
1365 SKL002 Skeletal Muscle Neoplasm 25
1366 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 24
1367 c LSS035 Lissencephaly 8 24
1368 c ATS432 Autosomal Dominant Distal Myopathy 24
1369 c HYP825 Hyperekplexia 4 23
1370 c DPH016 Diaphragmatic Hernia 3 23
1371 c LSS042 Lissencephaly 10 23
1372 c MLG148 Malignant Hyperthermia 2 23
1373 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 23
1374 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
1375 c NRC017 Narcolepsy 7 22
1376 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 21
1377 c URF002 Urofacial Syndrome 2 21
1378 ERY030 Erythrocyte Lactate Transporter Defect 20
1379 c PSR022 Psoriasis 15, Pustular 19
1380 c PRM150 Primary Localized Amyloidosis 19
1381 c NRC011 Narcolepsy 3 17
1382 c JVN046 Juvenile Polymyositis 17
1383 c DPH025 Diaphragmatic Hernia 2 17
1384 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
1385 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 15
1386 c NRC012 Narcolepsy 4 14
1387 c AHM002 Ah Amyloidosis 14
1388 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 14
1389 c NRC018 Narcolepsy 6 14
1390 ABR010 Abri Amyloidosis 14
1391 c NRC013 Narcolepsy 5 13
1392 c SPR097 Sporadic Hyperekplexia 12
1393 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 11
1394 CNT030 Central Nervous System Leiomyosarcoma 11
1395 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1396 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1397 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
1398 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
1399 c RDC018 Reducing Body Myopathy 1b 4
1400 P HNT016 Huntington Disease 73
1401 c SPN225 Spondyloarthropathy 1 70
1402 ODN023 Odontochondrodysplasia 67
1403 P HRS035 Hirschsprung Disease 1 66
1404 P PTT014 Pitt-Hopkins Syndrome 64
1405 WLK001 Walker-Warburg Syndrome 62
1406 CYS005 Cysticercosis 60
1407 CHL028 Childhood Type Dermatomyositis 59
1408 P LFT003 Left Ventricular Noncompaction 57
1409 P JRV004 Jervell and Lange-Nielsen Syndrome 1 56
1410 c RGD003 Rigid Spine Muscular Dystrophy 1 56
1411 PTS001 Patau Syndrome 56
1412 DYS192 Dystonia, Dopa-Responsive 55
1413 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55
1414 P SPN052 Spondyloarthropathy 55
1415 c HNT010 Huntington Disease-Like 1 55
1416 c MYP123 Myopathy, Centronuclear, 1 52
1417 GST037 Gastroparesis 52
1418 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 52
1419 OST011 Osteomalacia 52
1420 c HNT004 Huntington Disease-Like 2 52
1421 c NML003 Nemaline Myopathy 2 51
1422 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 50
1423 c PTT029 Pitt-Hopkins-Like Syndrome 1 50
1424 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 48
1425 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 48
1426 P NML001 Nemaline Myopathy 48
1427 PLY024 Polymicrogyria 47
1428 c NML004 Nemaline Myopathy 3 47
1429 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 46
1430 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
1431 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 46
1432 c ART155 Arthrogryposis, Distal, Type 2b1 45
1433 c RHB023 Rhabdomyosarcoma, Embryonal, 1 45
1434 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 45
1435 c ART147 Arthrogryposis, Distal, Type 7 45
1436 c LFT021 Left Ventricular Noncompaction 1 44
1437 LRW001 Leri-Weill Dyschondrosteosis 43
1438 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 43
1439 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 42
1440 MYP094 Myopathy, Spheroid Body 42
1441 P NRP066 Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy 42
1442 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 42
1443 TRP009 Triple X Syndrome 41
1444 CMB017 Combined Oxidative Phosphorylation Deficiency 6 41
1445 c PTT030 Pitt-Hopkins-Like Syndrome 2 41
1446 MBD001 Mbd5 Haploinsufficiency 41
1447 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 41
1448 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 40
1449 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 40
1450 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 40
1451 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39
1452 c PTT042 Pitt-Hopkins-Like Syndrome 38
1453 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 38
1454 GLM012 Glomuvenous Malformations 37
1455 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 36
1456 c HRS036 Hirschsprung Disease 2 36
1457 c NML025 Nemaline Myopathy 8 36
1458 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 34
1459 c HNT011 Huntington Disease-Like 3 34
1460 c NML021 Nemaline Myopathy 9 33
1461 P SPS225 Spastic Paralysis, Infantile-Onset Ascending 33
1462 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 32
1463 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 32
1464 MLR023 Melorheostosis, Isolated 32
1465 c DYS162 Dystonia, Juvenile-Onset 31
1466 c MYP119 Myopathy, Myofibrillar, 7 31
1467 c JRV002 Jervell and Lange-Nielsen Syndrome 2 31
1468 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 31
1469 c NML007 Nemaline Myopathy 6 30
1470 MTC208 Mitochondrial Complex Iv Deficiency, Nuclear Type 2 30
1471 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 30
1472 c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 30
1473 c SCK014 Sick Sinus Syndrome 2 29
1474 CMB064 Combined Oxidative Phosphorylation Deficiency 24 29
1475 c SPS039 Spastic Paraplegia 5a 29
1476 c LFT018 Left Ventricular Noncompaction 10 28
1477 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 28
1478 c NRP067 Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy 28
1479 c MYP112 Myopathy, Distal, 3 28
1480 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
1481 c SPS091 Spastic Paraplegia 4 27
1482 c LFT017 Left Ventricular Noncompaction 8 27
1483 c CRT082 Cortical Dysplasia, Complex, with Other Brain Malformations 8 27
1484 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
1485 LBN004 Liebenberg Syndrome 25
1486 c HRS029 Hirschsprung Disease 4 25
1487 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 25
1488 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 24
1489 c JVN015 Juvenile Huntington Disease 24
1490 c HRS034 Hirschsprung Disease 3 24
1491 c JVN047 Juvenile Spondyloarthropathy 24
1492 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
1493 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 23
1494 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 23
1495 P RGD004 Rigid Spine Muscular Dystrophy 22
1496 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 21
1497 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 21
1498 c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 20
1499 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 20
1500 c RPP007 Rippling Muscle Disease 1 19
1501 c LFT020 Left Ventricular Noncompaction 7 19
1502 c OCL080 Oculopharyngodistal Myopathy 2 19
1503 c MLG150 Malignant Hyperthermia 4 19
1504 c HNT013 Huntington Disease-Like Syndrome 18
1505 c MLG152 Malignant Hyperthermia 6 18
1506 c LFT011 Left Ventricular Noncompaction 2 17
1507 c HRS027 Hirschsprung Disease 5 17
1508 c SPN226 Spondyloarthropathy 2 15
1509 c HNT014 Huntington Disease-Like Syndrome Due to C9orf72 Expansions 14
1510 c HRS024 Hirschsprung Disease 9 13
1511 c HRS028 Hirschsprung Disease 6 13
1512 c HRS026 Hirschsprung Disease 7 13
1513 c HRS025 Hirschsprung Disease 8 12
1514 c SPN256 Spondyloarthropathy 3 11
1515 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 11
1516 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1517 P DST002 Distal Arthrogryposis 65
1518 LRN002 Laron Syndrome 63
1519 P LMY004 Leiomyosarcoma 62
1520 P SPN301 Spinocerebellar Ataxia 2 59
1521 MYP136 Myopathy, Centronuclear, X-Linked 59
1522 c SPN309 Spinocerebellar Ataxia 6 58
1523 INC002 Inclusion Body Myositis 57
1524 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 55
1525 PRP009 Peripartum Cardiomyopathy 55
1526 c SPN101 Spinocerebellar Ataxia 29 54
1527 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 54
1528 c SPN291 Spinocerebellar Ataxia 7 53
1529 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 53
1530 c SPN294 Spinocerebellar Ataxia 1 53
1531 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 52
1532 VRT007 Vertical Talus, Congenital 51
1533 c NML002 Nemaline Myopathy 1 49
1534 c SPN106 Spinocerebellar Ataxia 5 49
1535 c SPN311 Spinocerebellar Ataxia 13 48
1536 c MYP125 Myopathy, Distal, 1 48
1537 c SPN308 Spinocerebellar Ataxia 28 48
1538 c GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 48
1539 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 48
1540 c SPN304 Spinocerebellar Ataxia 8 47
1541 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47
1542 c SPN314 Spinocerebellar Ataxia 10 47
1543 c SPN296 Spinocerebellar Ataxia 17 47
1544 P GNT009 Giant Axonal Neuropathy 46
1545 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 46
1546 c SPN312 Spinocerebellar Ataxia 14 46
1547 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 45
1548 c SPN293 Spinocerebellar Ataxia 12 45
1549 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 45
1550 PRT052 Partington X-Linked Mental Retardation Syndrome 45
1551 c SPN305 Spinocerebellar Ataxia 11 45
1552 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 44
1553 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
1554 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
1555 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 42
1556 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 42
1557 c SPN265 Spinocerebellar Ataxia 36 42
1558 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
1559 c SPN100 Spinocerebellar Ataxia 27 41
1560 c NML006 Nemaline Myopathy 5 41
1561 P FRS004 Free Sialic Acid Storage Disorders 41
1562 c SPN290 Spinocerebellar Ataxia 15 41
1563 c SPN104 Spinocerebellar Ataxia 34 40
1564 c SPN097 Spinocerebellar Ataxia 23 40
1565 c SPN096 Spinocerebellar Ataxia 21 40
1566 c SPN284 Spinocerebellar Ataxia 38 40
1567 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
1568 c MYP082 Myopathy, Myofibrillar, 2 40
1569 c SPN266 Spinocerebellar Ataxia 35 40
1570 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 39
1571 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
1572 c SPN103 Spinocerebellar Ataxia 31 38
1573 c SPN105 Spinocerebellar Ataxia 4 38
1574 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
1575 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 38
1576 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 37
1577 c NML022 Nemaline Myopathy 10 37
1578 c SPN247 Spinocerebellar Ataxia Type 19/22 37
1579 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 36
1580 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 36
1581 c SPN419 Spinocerebellar Ataxia 45 36
1582 P BTR001 Botryoid Rhabdomyosarcoma 36
1583 c SPN283 Spinocerebellar Ataxia 37 36
1584 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 35
1585 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 34
1586 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34
1587 c SPN102 Spinocerebellar Ataxia 30 33
1588 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
1589 c SPN299 Spinocerebellar Ataxia 20 33
1590 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 33
1591 c MYP148 Myopathy, Centronuclear, 5 33
1592 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 33
1593 c NML024 Nemaline Myopathy 11, Autosomal Recessive 33
1594 c SPN095 Spinocerebellar Ataxia 19 33
1595 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 33
1596 c SPN383 Spinocerebellar Ataxia 42 33
1597 c SPN099 Spinocerebellar Ataxia 26 32
1598 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 32
1599 c SPN094 Spinocerebellar Ataxia 18 32
1600 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
1601 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
1602 SML014 Small Intestine Leiomyosarcoma 31
1603 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 30
1604 c SPN427 Spinocerebellar Ataxia 48 30
1605 c SPN286 Spinocerebellar Ataxia 40 29
1606 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 29
1607 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
1608 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 29
1609 c SPN098 Spinocerebellar Ataxia 25 28
1610 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
1611 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
1612 c MLG151 Malignant Hyperthermia 5 27
1613 c SPN421 Spinocerebellar Ataxia 47 27
1614 c SPN420 Spinocerebellar Ataxia 46 27
1615 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 27
1616 c SPN418 Spinocerebellar Ataxia 44 26
1617 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 26
1618 c SPN372 Spinocerebellar Ataxia 43 26
1619 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 25
1620 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 24
1621 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
1622 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
1623 c GNT045 Giant Axonal Neuropathy 2 24
1624 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1625 c SPN323 Spinocerebellar Ataxia 41 23
1626 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
1627 CMB072 Combined Oxidative Phosphorylation Deficiency 28 23
1628 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 22
1629 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
1630 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 21
1631 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 21
1632 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 20
1633 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 20
1634 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 19
1635 c SPN259 Spinocerebellar Ataxia 32 19
1636 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 16
1637 c INF047 Infantile Free Sialic Acid Storage Disease 16
1638 c SPN107 Spinocerebellar Ataxia 9 15
1639 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
1640 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
1641 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1642 P SYS005 Systemic Scleroderma 74
1643 c CNG411 Congenital Disorder of Glycosylation, Type in 67
1644 P MSC005 Muscular Dystrophy 67
1645 P PLZ001 Pelizaeus-Merzbacher Disease 65
1646 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
1647 c LCL006 Localized Scleroderma 65
1648 KRN002 Kearns-Sayre Syndrome 63
1649 c SCL052 Scleroderma, Familial Progressive 61
1650 P PRM030 Permanent Neonatal Diabetes Mellitus 59
1651 c CNG415 Congenital Disorder of Glycosylation, Type Ia 59
1652 P ULL002 Ullrich Congenital Muscular Dystrophy 1 57
1653 c CRB193 Cerebral Amyloid Angiopathy, App-Related 55
1654 STR081 Stormorken Syndrome 55
1655 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 55
1656 P HMP007 Hemophilia 52
1657 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
1658 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
1659 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
1660 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
1661 c CNG194 Congenital Disorder of Glycosylation, Type Ig 47
1662 CMB026 Combined Oxidative Phosphorylation Deficiency 12 47
1663 c CNG208 Congenital Disorder of Glycosylation, Type Iic 47
1664 c PNT018 Pontocerebellar Hypoplasia, Type 1b 46
1665 c MLG147 Malignant Hyperthermia 1 45
1666 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45
1667 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 45
1668 c CNG193 Congenital Disorder of Glycosylation, Type Ip 45
1669 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
1670 SGW002 Segawa Syndrome, Autosomal Recessive 44
1671 c CNG190 Congenital Disorder of Glycosylation, Type Iib 44
1672 c CNG199 Congenital Disorder of Glycosylation, Type Im 44
1673 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
1674 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
1675 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 43
1676 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
1677 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
1678 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
1679 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
1680 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
1681 c CNG198 Congenital Disorder of Glycosylation, Type Il 40
1682 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
1683 DSM002 Desmosterolosis 39
1684 c CNG379 Congenital Disorder of Glycosylation, Type It 39
1685 c CNG189 Congenital Disorder of Glycosylation, Type Ib 39
1686 c CNG497 Congenital Disorder of Glycosylation, Type Iio 38
1687 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
1688 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
1689 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
1690 c CNG504 Congenital Disorder of Glycosylation, Type Iip 37
1691 MYP086 Myopathy with Extrapyramidal Signs 37
1692 c PLZ002 Pelizaeus-Merzbacher-Like Disease 37
1693 c CNG200 Congenital Disorder of Glycosylation, Type Iq 36
1694 c CNG188 Congenital Disorder of Glycosylation, Type if 35
1695 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
1696 c MSC050 Muscular Dystrophy, Congenital, 1b 35
1697 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
1698 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
1699 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 34
1700 c ART112 Arthrogryposis, Distal, Type 10 34
1701 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
1702 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
1703 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 32
1704 c MYG007 Myoglobinuria, Recurrent 31
1705 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
1706 c CNG416 Congenital Disorder of Glycosylation, Type Iy 31
1707 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 30
1708 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30
1709 P HRD084 Hereditary Cerebral Amyloid Angiopathy 30
1710 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
1711 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
1712 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 27
1713 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
1714 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
1715 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
1716 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
1717 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
1718 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 25
1719 c CNG617 Congenital Disorder of Glycosylation, Type Iit 25
1720 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 24
1721 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
1722 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 21
1723 c MSC200 Muscular Dystrophy-Dystroglycanopathy , Type B, 15 18
1724 P DSR041 Disorder of Multiple Glycosylation 6
1725 c MYT021 Myotonic Dystrophy 1 68
1726 c SPS153 Spastic Paraplegia 35, Autosomal Recessive 50
1727 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 47
1728 MTC026 Mitochondrial Myopathy with Lactic Acidosis 31
1729 SCH018 Schizencephaly 52
1730 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 47
1731 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29
1732 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 17
1733 P MYT002 Myotonic Dystrophy 51
1734 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1735 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1736 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 21



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