Muscle Diseases Category (951 diseases)


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

# Family MCID Name MIFTS
1 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 52
2 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 40
3 SPN402 Spinal Muscular Atrophy, X-Linked 2 41
4 c SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 32
5 c SPN395 Spinal Muscular Atrophy, Type Ii 55
6 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 41
7 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 52
8 c SPN398 Spinal Muscular Atrophy, Type Iv 45
9 c SPN394 Spinal Muscular Atrophy, Type Iii 53
10 c SPN393 Spinal Muscular Atrophy, Type I 52
11 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 45
12 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
13 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
14 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 36
15 c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 34
16 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 38
17 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 43
18 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 37
19 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 35
20 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 26
21 P SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 26
22 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 45
23 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 35
24 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56
25 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34
26 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 27
27 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 19
28 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 49
29 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 29
30 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 24
31 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 22
32 P LMB006 Limb-Girdle Muscular Dystrophy 53
33 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 40
34 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 36
35 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
36 P RGD004 Rigid Spine Muscular Dystrophy 20
37 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
38 SCP002 Scapuloperoneal Spinal Muscular Atrophy 56
39 MSC012 Muscular Dystrophy, Duchenne and Becker Type 34
40 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 32
41 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 32
42 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30
43 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 27
44 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
45 AMY098 Amyotrophy, Monomelic 34
46 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 22
47 FKY002 Fukuyama Type Muscular Dystrophy 16
48 CST006 Costocoracoid Ligament, Congenitally Short 13
49 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 12
50 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 12
51 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 35
52 P SCP010 Scapuloperoneal Myopathy 33
53 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 26
54 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 24
55 TBL022 Tibial Muscular Dystrophy, Tardive 35
56 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
57 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 26
58 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 21
59 c LSS005 Lissencephaly 1 56
60 c LSS006 Lissencephaly 2 52
61 P LSS002 Lissencephaly 51
62 c LSS010 Lissencephaly 4 38
63 c LSS009 Lissencephaly 3 37
64 P LMN012 Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 35
65 P CLP009 Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 31
66 c LSS025 Lissencephaly 5 26
67 c LSS035 Lissencephaly 8 24
68 c LSS042 Lissencephaly 10 18
69 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57
70 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54
71 c CNG012 Congenital Generalized Lipodystrophy 52
72 P ACQ022 Acquired Generalized Lipodystrophy 47
73 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
74 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 41
75 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
76 BRW006 Brown Syndrome 26
77 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 14
78 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 13
79 c PRG001 Progressive Muscular Atrophy 42
80 TNS001 Tenosynovial Giant Cell Tumor 40
81 ADP007 Adie Pupil 39
82 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 29
83 CHL155 Childhood Spinal Muscular Atrophy 29
84 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 25
85 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
86 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
87 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 29
88 VCL008 Vacuolar Neuromyopathy 22
89 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
90 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 13
91 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
92 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 7
93 FBR011 Fibrodysplasia Ossificans Progressiva 67
94 SPN267 Spinal Muscular Atrophy, Jokela Type 27
95 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 27
96 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 24
97 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 23
98 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 30
99 c ULL003 Ullrich Congenital Muscular Dystrophy 2 25
100 c SPN444 Spinal Muscular Atrophy Type 0 17
101 TND001 Tendon Sheath Lipoma 12
102 UTR041 Uterine Ligament Cancer 8
103 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 50
104 c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 42
105 c DYS067 Dystonia 6, Torsion 37
106 WLN001 Welander Distal Myopathy 36
107 MDN008 Median Arcuate Ligament Syndrome 35
108 BRW002 Brown's Tendon Sheath Syndrome 28
109 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 27
110 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 25
111 c TRS025 Torsion Dystonia 2 24
112 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 24
113 c DYS068 Dystonia 7, Torsion 24
114 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 23
115 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
116 MSC158 Muscular Dystrophy, Scapulohumeral 18
117 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 13
118 c TRS027 Torsion Dystonia 4 13
119 c LMN013 Laminin Subunit Alpha 2-Related Muscular Dystrophy 13
120 P TRS005 Torsion Dystonia with Onset in Infancy 12
121 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 9
122 c CLP008 Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 5
123 c TRS028 Torsion Dystonia 17 5
124 LMN014 Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 4
125 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 3
126 PGM001 Pigmented Villonodular Synovitis 56
127 PST020 Postpoliomyelitis Syndrome 43
128 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 40
129 c PNT045 Pontocerebellar Hypoplasia, Type 1a 39
130 DQR001 De Quervain Disease 28
131 c CNG411 Congenital Disorder of Glycosylation, Type in 68
132 INT146 Intervertebral Disc Disease 63
133 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
134 c CNG189 Congenital Disorder of Glycosylation, Type Ib 52
135 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
136 c CNG191 Congenital Disorder of Glycosylation, Type Iia 51
137 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
138 ENT004 Enthesopathy 49
139 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
140 c CNG203 Congenital Disorder of Glycosylation, Type Iii 46
141 c CNG199 Congenital Disorder of Glycosylation, Type Im 45
142 P PRX014 Proximal Spinal Muscular Atrophy 45
143 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
144 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
145 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
146 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
147 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
148 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
149 c CNG198 Congenital Disorder of Glycosylation, Type Il 43
150 c CNG185 Congenital Disorder of Glycosylation, Type Iig 43
151 c CNG197 Congenital Disorder of Glycosylation, Type Ih 42
152 c CNG194 Congenital Disorder of Glycosylation, Type Ig 41
153 c CNG498 Congenital Disorder of Glycosylation, Type Iin 40
154 c CNG195 Congenital Disorder of Glycosylation, Type Id 40
155 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
156 c CNG187 Congenital Disorder of Glycosylation, Type Iid 38
157 c CNG196 Congenital Disorder of Glycosylation, Type Ic 38
158 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
159 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
160 c CNG379 Congenital Disorder of Glycosylation, Type It 36
161 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
162 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
163 c CNG192 Congenital Disorder of Glycosylation, Type Ik 34
164 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
165 c CNG188 Congenital Disorder of Glycosylation, Type if 32
166 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
167 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
168 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
169 c CNG388 Congenital Disorder of Glycosylation, Type Iw 27
170 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
171 ATM005 Autoimmune Disease of Musculoskeletal System 25
172 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
173 c CNG617 Congenital Disorder of Glycosylation, Type Iit 21
174 CML001 Cumulative Trauma Disorders 20
175 c ATS425 Autosomal Recessive Distal Hereditary Motor Neuronopathy 19
176 c CNG615 Congenital Disorder of Glycosylation, Type Iir 18
177 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 16
178 KCH001 Kocher-Debre-Semelaigne Syndrome 13
179 EMR021 Emery-Dreifuss Syndrome 12
180 MST003 Masters-Allen Syndrome 12
181 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 12
182 CLL037 Collagen Vi Related Muscular Dystrophy 9
183 SPN387 Spinal Muscular Atrophy, Segmental 7
184 MSC031 Muscular Phosphorylase Kinase Deficiency 6
185 P DSR041 Disorder of Multiple Glycosylation 6
186 UTR060 Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease 5
187 P SPN442 Spinal Muscular Atrophy with Lower Extremity Predominante 2b 4
188 c SPN441 Spinal Muscular Atrophy with Lower Extremity Predominance 2a 4
189 c SPN443 Spinal Muscular Atrophy with Lower Extremity Predominance 1 4
190 c GLY008 Glycogen Storage Disease Ii 70
191 P CRN015 Cornelia De Lange Syndrome 64
192 c GLY060 Glycogen Storage Disease Ia 63
193 c GLY004 Glycogen Storage Disease V 62
194 P SPN046 Spinal Muscular Atrophy 62
195 P GLY013 Glycogen Storage Disease 60
196 c GLY003 Glycogen Storage Disease Iii 59
197 c GLY007 Glycogen Storage Disease Iv 58
198 c CRN139 Cornelia De Lange Syndrome 1 57
199 c GLY005 Glycogen Storage Disease Vi 56
200 c GLY011 Glycogen Storage Disease Vii 55
201 P MYT002 Myotonic Dystrophy 49
202 END021 Endomyocardial Fibrosis 49
203 STP011 Stapes Ankylosis with Broad Thumbs and Toes 49
204 BRS064 Bursitis 48
205 c PNT034 Pontocerebellar Hypoplasia, Type 2e 48
206 P TRT019 Torticollis 48
207 c GLY098 Glycogen Storage Disease, Type Ixd 47
208 P PNT019 Pontocerebellar Hypoplasia 46
209 c PNT036 Pontocerebellar Hypoplasia, Type 6 45
210 c GLY097 Glycogen Storage Disease Ixb 44
211 c PNT018 Pontocerebellar Hypoplasia, Type 1b 44
212 c PNT039 Pontocerebellar Hypoplasia, Type 7 43
213 c PNT049 Pontocerebellar Hypoplasia, Type 2d 43
214 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
215 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
216 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
217 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
218 c GLY016 Glycogen Storage Disease Ib 40
219 c GLY009 Glycogen Storage Disease Xv 39
220 c PNT010 Pontocerebellar Hypoplasia Type 1 39
221 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
222 c GLY044 Glycogen Storage Disease Ixc 37
223 c CRN209 Cornelia De Lange Syndrome 5 37
224 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 35
225 c GLY057 Glycogen Storage Disease X 34
226 c PRG106 Progressive Muscular Dystrophy 33
227 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 32
228 c PNT030 Pontocerebellar Hypoplasia, Type 8 32
229 c GLY043 Glycogen Storage Disease Xii 31
230 ERL030 Early-Onset Generalized Limb-Onset Dystonia 31
231 c CRN134 Cornelia De Lange Syndrome 2 31
232 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 30
233 c GLY017 Glycogen Storage Disease Ic 30
234 c PNT046 Pontocerebellar Hypoplasia, Type 5 29
235 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 29
236 c PNT050 Pontocerebellar Hypoplasia, Type 11 28
237 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
238 c GLY023 Glycogen Storage Disease Type 0 27
239 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
240 c LM2001 Lama2-Related Muscular Dystrophy 26
241 c GLY093 Glycogen Storage Disease Ixa 25
242 c GLY059 Glycogen Storage Disease Xiii 25
243 c GLY001 Glycogen Storage Disease Ix 25
244 NDL002 Nodular Tenosynovitis 24
245 MSC193 Muscular Lipidosis 23
246 c GLY006 Glycogen Storage Disease Viii 23
247 c CNG129 Congenital Torticollis 23
248 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
249 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
250 c PNT053 Pontocerebellar Hypoplasia, Type 13 22
251 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
252 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
253 OVR077 Overuse Syndrome 20
254 RPT005 Repetitive Motion Disorders 18
255 MSC026 Muscular Dystrophy White Matter Spongiosis 15
256 OCL023 Ocular Muscular Dystrophy 14
257 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
258 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 13
259 MSC192 Muscular Glycogenosis 13
260 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 13
261 c ATS428 Autosomal Recessive Distal Hereditary Motor Neuropathy 12
262 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
263 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 12
264 XLN239 X-Linked Distal Hereditary Motor Neuropathy 12
265 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 12
266 TBL002 Tibial Collateral Ligament Bursitis 11
267 HYP751 Hypertrophia Musculorum Vera 11
268 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 10
269 RPT006 Repetitive Stress Injuries 10
270 MSC153 Muscular Dystrophy, Cardiac Type 9
271 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
272 MSC151 Muscular Hypertonia, Lethal 9
273 UDD002 Udd Distal Myopathy - Tibial Muscular Dystrophy 9
274 MSC194 Muscular Tumor 9
275 MSC144 Muscular Atrophy, Malignant Neurogenic 9
276 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
277 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
278 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
279 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
280 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 7
281 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 7
282 MSC197 Muscular Channelopathy 7
283 MSC145 Muscular Dystrophy, Barnes Type 7
284 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
285 MSC155 Muscular Dystrophy, Mabry Type 6
286 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
287 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
288 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
289 LTN025 Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies 4
290 FBL001 Fibular Collateral Ligament Bursitis 4
291 GNR047 Generalized Bulbospinal Muscular Atrophy 3
292 BLB006 Bulbospinal Muscular Atrophy of Adult 3
293 BLB007 Bulbospinal Muscular Atrophy of Childhood 3
294 MSC198 Musculoskeletal Disease with Cataract 3
295 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
296 GNT172 Genetic Neurological Muscular Channelopathy 3
297 c NRL028 Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect 3
298 c NRL031 Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect 3
299 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 1
300 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 1
301 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 1
302 c SPN225 Spondyloarthropathy 1 73
303 c RHB024 Rhabdomyosarcoma 2 67
304 c ART144 Arthrogryposis, Distal, Type 1a 61
305 MYP136 Myopathy, Centronuclear, X-Linked 59
306 P CNT004 Centronuclear Myopathy 59
307 FBR047 Fibromyalgia 58
308 P SCK002 Sick Sinus Syndrome 55
309 P ATR001 Atrioventricular Septal Defect 55
310 P SPN052 Spondyloarthropathy 54
311 c MYP072 Myopathy, Myofibrillar, 1 54
312 P STS003 Sitosterolemia 54
313 c MYP123 Myopathy, Centronuclear, 1 54
314 TND005 Tendinitis 54
315 GSG001 Gas Gangrene 53
316 ANK001 Ankylosis 51
317 c MYP131 Myopathy, Centronuclear, 2 51
318 c NML003 Nemaline Myopathy 2 48
319 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 46
320 c NML004 Nemaline Myopathy 3 46
321 P CNT009 Central Core Myopathy 46
322 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 45
323 c STS010 Sitosterolemia 1 44
324 P MTC004 Mitochondrial Encephalomyopathy 44
325 P MYG005 Myoglobinuria 44
326 DPH021 Diaphragm Disease 43
327 MYF002 Myofascial Pain Syndrome 42
328 SPN009 Spindle Cell Rhabdomyosarcoma 41
329 MYS001 Myositis Ossificans 41
330 PLM030 Pleomorphic Rhabdomyosarcoma 40
331 c NML005 Nemaline Myopathy 4 39
332 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 39
333 c NML006 Nemaline Myopathy 5 39
334 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 37
335 c FML272 Familial Sick Sinus Syndrome 34
336 DPH006 Diaphragmatic Eventration 33
337 c SCK017 Sick Sinus Syndrome 1 33
338 c MYG007 Myoglobinuria, Recurrent 33
339 c MYP098 Myopathy, Centronuclear, 4 33
340 c NML021 Nemaline Myopathy 9 33
341 MYP038 Myopathy, Congenital, Compton-North 32
342 c MYP118 Myopathy, Myofibrillar, 8 31
343 c MYP088 Myopathy, Tubular Aggregate, 2 31
344 c MYP148 Myopathy, Centronuclear, 5 30
345 CLC004 Calcific Tendinitis 30
346 P RDC010 Reducing Body Myopathy 30
347 c SCK014 Sick Sinus Syndrome 2 30
348 c STS011 Sitosterolemia 2 30
349 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 29
350 MYX006 Myxoid Leiomyosarcoma 28
351 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 28
352 PLM004 Pulmonary Artery Leiomyosarcoma 27
353 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 27
354 MYP150 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 26
355 CNG032 Congenital Structural Myopathy 26
356 c ATR047 Atrioventricular Septal Defect 2 26
357 c RDC017 Reducing Body Myopathy 1a 26
358 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
359 c ATR067 Atrioventricular Septal Defect 4 25
360 c ART157 Arthrogryposis, Distal, Type 2b3 25
361 c ATS432 Autosomal Dominant Distal Myopathy 23
362 c JVN047 Juvenile Spondyloarthropathy 23
363 c ATR071 Atrioventricular Septal Defect 5 23
364 OVR035 Ovary Leiomyosarcoma 23
365 c MYP116 Myopathy, Distal, 5 23
366 c SCK022 Sick Sinus Syndrome 3 23
367 GRN036 Granulomatous Myositis 22
368 c ATR064 Atrioventricular Septal Defect 3 21
369 MSC004 Muscle Tissue Disease 21
370 MYS002 Myositis Fibrosa 19
371 TBL004 Tibialis Tendinitis 19
372 c RPP007 Rippling Muscle Disease 1 18
373 c MYP158 Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 18
374 MYP039 Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 17
375 c CNG563 Congenital Myopathy with Cores 16
376 CYL003 Cylindrical Spirals Myopathy 16
377 c SPN226 Spondyloarthropathy 2 16
378 c MYG006 Myoglobinuria, Autosomal Dominant 15
379 c CV3001 Cav3-Related Distal Myopathy 15
380 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 14
381 c SPN256 Spondyloarthropathy 3 13
382 P MYP124 Myopathy, Distal, Infantile-Onset 13
383 TRC088 Trochleitis 12
384 c INT382 Intermediate Atrioventricular Septal Defect 11
385 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 11
386 GRN012 Granular Cell Leiomyosarcoma 11
387 c ATS431 Autosomal Recessive Distal Myopathy 10
388 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
389 MDS008 Mediastinum Rhabdomyosarcoma 6
390 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
391 MYP005 Myopathy of Extraocular Muscle 4
392 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 49
393 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
394 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 31
395 P SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 26
396 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 21
397 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 33
398 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 29
399 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 33
400 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 32
401 RND001 Round Ligament Malignant Neoplasm 8
402 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 28
403 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 33
404 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 30
405 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
406 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30
407 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 29
408 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
409 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 28
410 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
411 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 27
412 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
413 DSM004 Desmoid Tumor 64
414 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56
415 MSC077 Muscle Eye Brain Disease 47
416 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
417 c XLN110 X-Linked Charcot-Marie-Tooth Disease 42
418 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 34
419 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 33
420 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 30
421 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 27
422 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 26
423 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 22
424 BRD006 Broad Ligament Malignant Neoplasm 8
425 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 48
426 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 44
427 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 15
428 QZM001 Qazi Markouizos Syndrome 14
429 P CHR071 Charcot-Marie-Tooth Disease 65
430 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57
431 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50
432 P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 49
433 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 48
434 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 48
435 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 47
436 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47
437 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 46
438 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
439 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 45
440 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 43
441 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 43
442 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 41
443 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
444 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 40
445 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 38
446 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 34
447 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 34
448 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
449 c HRD138 Hereditary Motor and Sensory Neuropathy V 32
450 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 31
451 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 30
452 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
453 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
454 c CHR026 Charcot-Marie-Tooth Disease Type X 25
455 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
456 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 23
457 c CHR135 Charcot-Marie-Tooth Disease Type 2a 22
458 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 21
459 c CHR549 Charcot-Marie-Tooth Disease Type 2l 20
460 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
461 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 17
462 c CHR571 Charcot-Marie-Tooth Disease Type 5 17
463 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 13
464 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
465 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 12
466 c CHR701 Charcot-Marie-Tooth Disease Type 1g 9
467 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 8
468 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
469 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
470 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
471 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
472 CNT105 Central Core Disease of Muscle 60
473 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 45
474 SLH001 Salih Myopathy 36
475 P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 34
476 NCR015 Necrotizing Autoimmune Myopathy 26
477 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 23
478 UTR040 Uterine Ligament Adenocarcinoma 8
479 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
480 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
481 UTR012 Uterine Ligament Serous Adenocarcinoma 5
482 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
483 P MYT023 Myotonia Congenita 56
484 P ART106 Arterial Calcification, Generalized, of Infancy, 1 46
485 c MYT029 Myotonia Congenita, Autosomal Recessive 41
486 MTR007 Motor Peripheral Neuropathy 39
487 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 37
488 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 35
489 c MYT027 Myotonia Congenita, Autosomal Dominant 34
490 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 34
491 c DST106 Distal Hereditary Motor Neuronopathy Type 2 34
492 P DST101 Distal Hereditary Motor Neuropathies 32
493 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
494 c DST105 Distal Hereditary Motor Neuronopathy Type 7 25
495 PLM104 Palmoplantar Keratoderma, Nagashima Type 23
496 WRD018 Werdnig-Hoffman Disease 23
497 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 22
498 PRT108 Puerto Rican Infant Hypotonia Syndrome 20
499 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 18
500 c DST092 Distal Hereditary Motor Neuropathy Type 7 15
501 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 14
502 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
503 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
504 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
505 SPN436 Spinal Muscular Atrophy Associated with Central Nervous System Anomaly 3
506 P NRL027 Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect 3
507 c NRL029 Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect 3
508 c NRL030 Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect 3
509 P MYP004 Myopathy 70
510 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
511 P MTR014 Motor Neuron Disease 65
512 P LMY004 Leiomyosarcoma 63
513 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 62
514 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 60
515 PSD012 Pseudoachondroplasia 58
516 c ART061 Arthrogryposis, Distal, Type 2a 57
517 c ART119 Arthrogryposis, Distal, Type 5 55
518 CNG046 Congenital Fiber-Type Disproportion 54
519 MYM001 Myoma 54
520 P MYP087 Myopathy, Tubular Aggregate, 1 53
521 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 52
522 c ART120 Arthrogryposis, Distal, Type 3 51
523 P MYS079 Miyoshi Muscular Dystrophy 50
524 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 50
525 SNT005 Sinoatrial Node Disease 49
526 c NML002 Nemaline Myopathy 1 49
527 MYP100 Myopathy, X-Linked, with Excessive Autophagy 48
528 P MYF003 Myofibrillar Myopathy 48
529 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47
530 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
531 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 45
532 SPS057 Spasticity 45
533 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 45
534 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 44
535 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 43
536 P HYP265 Hypotonia 43
537 PYM001 Pyomyositis 41
538 P HRD086 Hereditary Hypophosphatemic Rickets 40
539 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 40
540 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 40
541 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 40
542 c NML010 Nemaline Myopathy 7 40
543 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
544 SMT002 Smooth Muscle Tumor 38
545 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 38
546 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 36
547 c NML022 Nemaline Myopathy 10 36
548 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 35
549 MYT003 Myotonic Disease 35
550 c ART060 Arthrogryposis, Distal, Type 1b 35
551 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
552 CHR387 Chromosome Xp21 Deletion Syndrome 35
553 SML014 Small Intestine Leiomyosarcoma 34
554 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33
555 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 33
556 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 32
557 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 32
558 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 32
559 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 31
560 c SVR040 Severe Congenital Nemaline Myopathy 31
561 c ART131 Arthrogryposis, Distal, Type 4 30
562 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 30
563 DST103 Distal Muscular Dystrophy with Anterior Tibial Onset 30
564 c INT274 Intermediate Congenital Nemaline Myopathy 30
565 EPT011 Epithelioid Leiomyosarcoma 30
566 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 29
567 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
568 c NML024 Nemaline Myopathy 11, Autosomal Recessive 29
569 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 28
570 MYB001 Myoblastoma 28
571 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 28
572 c NML007 Nemaline Myopathy 6 28
573 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 28
574 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 28
575 CNV006 Conventional Leiomyosarcoma 27
576 LNG023 Lung Leiomyosarcoma 27
577 INT013 Intramuscular Hemangioma 26
578 PTL003 Patellar Tendinitis 26
579 c INF031 Inflammatory Leiomyosarcoma 26
580 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 25
581 CLN012 Colon Leiomyosarcoma 25
582 IMG002 Imagawa-Matsumoto Syndrome 25
583 c ART156 Arthrogryposis, Distal, Type 2b2 24
584 c ART102 Arterial Calcification, Generalized, of Infancy, 2 24
585 BCP001 Bicipital Tenosynovitis 24
586 c INF065 Infantile Hypotonia 24
587 c ADL068 Adult-Onset Nemaline Myopathy 23
588 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
589 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 22
590 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 22
591 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 22
592 WND002 Wandering Spleen 22
593 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 22
594 EPD011 Epidemic Pleurodynia 22
595 PLM003 Pulmonary Vein Leiomyosarcoma 22
596 c MYS019 Miyoshi Muscular Dystrophy 2 21
597 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 19
598 c CNG579 Congenital Nemaline Myopathy 18
599 P WHS002 Whistling Face Syndrome, Recessive Form 18
600 CNT021 Central Nervous System Rhabdomyosarcoma 17
601 MYS010 Myostatin-Related Muscle Hypertrophy 17
602 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 17
603 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 16
604 FLP002 Floppy Infant Syndrome 14
605 DST013 Distal Myopathy with Vocal Cord Weakness 13
606 SPR003 Superior Vena Cava Leiomyosarcoma 13
607 CNT030 Central Nervous System Leiomyosarcoma 12
608 LRY014 Larynx Leiomyosarcoma 11
609 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 11
610 MDS017 Mediastinum Leiomyosarcoma 9
611 FLL007 Fallopian Tube Leiomyosarcoma 8
612 OVR023 Ovary Rhabdomyosarcoma 7
613 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
614 ANS008 Anus Rhabdomyosarcoma 6
615 ANS009 Anus Leiomyosarcoma 5
616 c ACQ067 Acquired Motor Neuron Disease 5
617 MXD015 Mixed Type Rhabdomyosarcoma 5
618 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
619 c RDC018 Reducing Body Myopathy 1b 4
620 TNS002 Tenosynovitis of Foot and Ankle 4
621 STR082 Striated Muscle Rhabdoid Tumor 4
622 c ATS473 Autosomal Recessive Whistling Face Syndrome 3
623 DST104 Distal Muscular Dystrophy Tateyama Type 3
624 CNN005 Connective Tissue Disease 68
625 PRN038 Prune Belly Syndrome 56
626 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
627 P DYS154 Dystonia 65
628 c DYS056 Dystonia 12 62
629 c DYS119 Dystonia 9 50
630 DYS064 Dystonia 3, Torsion, X-Linked 47
631 c DYS059 Dystonia 16 43
632 c DYS151 Dystonia 25 39
633 c DYS146 Dystonia 24 37
634 c DYS172 Dystonia 27 35
635 c DYS145 Dystonia 23 32
636 c DYS162 Dystonia, Juvenile-Onset 31
637 c HRD198 Hereditary Dystonia 30
638 c DYS138 Dystonia 21 23
639 MLN064 Melanoma of Soft Tissue 21
640 c KMT002 Kmt2b-Related Dystonia 15
641 c RRD039 Rare Dystonia 8
642 OST012 Osteoarthritis 78
643 P PRK057 Parkinson Disease, Late-Onset 78
644 MSC157 Muscular Dystrophy, Duchenne Type 72
645 c LPD015 Lipodystrophy, Familial Partial, Type 2 64
646 P RHB003 Rhabdomyosarcoma 63
647 KRN002 Kearns-Sayre Syndrome 63
648 MSC152 Muscular Dystrophy, Becker Type 63
649 P DST002 Distal Arthrogryposis 63
650 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
651 ALV005 Alveolar Soft Part Sarcoma 61
652 P EMR001 Emery-Dreifuss Muscular Dystrophy 60
653 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 59
654 P SPN309 Spinocerebellar Ataxia 6 59
655 c SPN301 Spinocerebellar Ataxia 2 58
656 BRD001 Brody Myopathy 57
657 P MYS005 Myositis 56
658 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
659 P FML012 Familial Partial Lipodystrophy 54
660 c SPN294 Spinocerebellar Ataxia 1 53
661 P EMB005 Embryonal Rhabdomyosarcoma 53
662 CYS005 Cysticercosis 53
663 OCL008 Oculopharyngeal Muscular Dystrophy 53
664 c SPN291 Spinocerebellar Ataxia 7 52
665 P MSC003 Muscular Atrophy 52
666 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 51
667 c SPN296 Spinocerebellar Ataxia 17 51
668 c ART155 Arthrogryposis, Distal, Type 2b1 50
669 c SPN311 Spinocerebellar Ataxia 13 50
670 TBL009 Tibial Muscular Dystrophy 50
671 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 49
672 P MTC133 Mitochondrial Myopathy 49
673 c SPN106 Spinocerebellar Ataxia 5 49
674 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 48
675 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
676 c PRK071 Parkinson Disease 14, Autosomal Recessive 48
677 c PRK085 Parkinson Disease 1, Autosomal Dominant 47
678 c SPN105 Spinocerebellar Ataxia 4 47
679 c SPN312 Spinocerebellar Ataxia 14 47
680 c LPD021 Lipodystrophy, Familial Partial, Type 3 47
681 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 46
682 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 46
683 P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 46
684 c SPN293 Spinocerebellar Ataxia 12 45
685 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 45
686 c SPN097 Spinocerebellar Ataxia 23 45
687 c SPN314 Spinocerebellar Ataxia 10 45
688 c LPD019 Lipodystrophy, Partial, Acquired 45
689 MSC072 Muscle Cancer 45
690 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 45
691 c SPN305 Spinocerebellar Ataxia 11 45
692 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 45
693 c ART147 Arthrogryposis, Distal, Type 7 45
694 c SPN308 Spinocerebellar Ataxia 28 45
695 c PRK065 Parkinson Disease 20, Early-Onset 44
696 P RPP006 Rippling Muscle Disease 2 44
697 TNS014 Tenosynovitis 44
698 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
699 c HRD173 Hereditary Late-Onset Parkinson Disease 44
700 c RHB023 Rhabdomyosarcoma, Embryonal, 1 43
701 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
702 DYS032 Dystrophinopathies 43
703 c PRK052 Parkinson Disease 17 43
704 c LPD030 Lipodystrophy, Familial Partial, Type 5 43
705 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 42
706 c SPN101 Spinocerebellar Ataxia 29 42
707 c MTC116 Mitochondrial Myopathy, Infantile, Transient 42
708 c SPN265 Spinocerebellar Ataxia 36 42
709 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 42
710 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
711 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41
712 c MYP080 Myopathy, Myofibrillar, 4 41
713 c SPN100 Spinocerebellar Ataxia 27 41
714 c SPN304 Spinocerebellar Ataxia 8 41
715 c ART104 Arthrogryposis, Distal, Type 5d 41
716 c SPN284 Spinocerebellar Ataxia 38 41
717 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
718 c SPN096 Spinocerebellar Ataxia 21 40
719 c SPN104 Spinocerebellar Ataxia 34 40
720 c SPN290 Spinocerebellar Ataxia 15 40
721 c PRK090 Parkinson Disease 3, Autosomal Dominant 40
722 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 40
723 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 40
724 c MYP081 Myopathy, Myofibrillar, 6 40
725 c SPN266 Spinocerebellar Ataxia 35 39
726 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 39
727 c ERL056 Early-Onset Parkinson's Disease 39
728 c PRK091 Parkinson Disease 4, Autosomal Dominant 39
729 c LPD034 Lipodystrophy, Familial Partial, Type 4 39
730 c SPN103 Spinocerebellar Ataxia 31 39
731 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 38
732 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 37
733 MSC190 Muscular Disease 37
734 c PRK070 Parkinson Disease 21 37
735 c SPN247 Spinocerebellar Ataxia Type 19/22 36
736 c SPN283 Spinocerebellar Ataxia 37 36
737 c NML025 Nemaline Myopathy 8 36
738 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
739 c LPD040 Lipodystrophy, Familial Partial, Type 1 35
740 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 35
741 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 35
742 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
743 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
744 c SPN419 Spinocerebellar Ataxia 45 35
745 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 35
746 c ART112 Arthrogryposis, Distal, Type 10 34
747 c SPN099 Spinocerebellar Ataxia 26 34
748 c SPN102 Spinocerebellar Ataxia 30 34
749 c LPD036 Lipodystrophy, Familial Partial, Type 6 34
750 c SPN299 Spinocerebellar Ataxia 20 33
751 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
752 c PRK025 Parkinson Disease 10 33
753 c SPN095 Spinocerebellar Ataxia 19 32
754 c SPN383 Spinocerebellar Ataxia 42 32
755 c SPN094 Spinocerebellar Ataxia 18 31
756 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 31
757 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
758 c ADL027 Adult Dermatomyositis 30
759 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 30
760 SKL003 Skeletal Muscle Cancer 30
761 ATR076 Atrophic Muscular Disease 30
762 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 29
763 c ART128 Arthrogryposis, Distal, Type 6 29
764 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 29
765 c SPN286 Spinocerebellar Ataxia 40 29
766 c SPN098 Spinocerebellar Ataxia 25 29
767 c PRK083 Parkinson Disease 22, Autosomal Dominant 28
768 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 28
769 c PRK098 Parkinson Disease 5, Autosomal Dominant 28
770 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
771 c PRK081 Parkinson Disease 19a, Juvenile-Onset 28
772 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
773 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
774 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 28
775 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
776 c SPN427 Spinocerebellar Ataxia 48 27
777 HYD030 Hydroxykynureninuria 27
778 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 27
779 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 26
780 c SPN418 Spinocerebellar Ataxia 44 26
781 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 26
782 c SPN420 Spinocerebellar Ataxia 46 26
783 c SPN421 Spinocerebellar Ataxia 47 25
784 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
785 SKL002 Skeletal Muscle Neoplasm 25
786 c JVN058 Juvenile-Onset Parkinson's Disease 25
787 c PRK096 Parkinson Disease 13, Autosomal Dominant 25
788 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
789 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
790 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
791 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
792 c RHB021 Rhabdomyosarcoma, Embryonal, 2 24
793 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 24
794 c SPN372 Spinocerebellar Ataxia 43 23
795 c SPN323 Spinocerebellar Ataxia 41 23
796 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 23
797 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
798 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 22
799 GLL016 Gallbladder Leiomyosarcoma 22
800 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
801 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 21
802 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 21
803 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 21
804 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 20
805 c PRK022 Parkinson Disease 12 20
806 BNL001 Bone Leiomyosarcoma 19
807 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 19
808 c SPN259 Spinocerebellar Ataxia 32 19
809 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 17
810 c PRK058 Parkinson Disease 16 17
811 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 17
812 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17
813 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
814 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 16
815 c VRL025 Viral Myositis 15
816 c SPN107 Spinocerebellar Ataxia 9 15
817 c ART054 Arthrogryposis, Distal, Type 2e 14
818 c BCT018 Bacterial Myositis 14
819 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 11
820 GLL014 Gallbladder Rhabdomyosarcoma 10
821 c VPS003 Vps35-Related Parkinson Disease 10
822 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
823 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 9
824 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
825 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
826 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
827 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
828 CRP001 Carpal Tunnel Syndrome 67
829 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 61
830 c CRB193 Cerebral Amyloid Angiopathy, App-Related 55
831 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 44
832 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
833 P HRD084 Hereditary Cerebral Amyloid Angiopathy 32
834 P MLG056 Malignant Hyperthermia 67
835 P CTS001 Cutis Laxa 65
836 c DPH024 Diaphragmatic Hernia, Congenital 63
837 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 62
838 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 60
839 INC002 Inclusion Body Myositis 58
840 CRT033 Corticobasal Degeneration 57
841 P INF049 Infantile Myofibromatosis 56
842 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 55
843 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 55
844 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54
845 c CTS045 Cutis Laxa, Autosomal Dominant 1 53
846 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 51
847 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49
848 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 49
849 c MYP125 Myopathy, Distal, 1 49
850 P NML001 Nemaline Myopathy 49
851 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
852 LYM009 Lymphocytic Choriomeningitis 47
853 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 46
854 c MYP079 Myopathy, Myofibrillar, 5 46
855 TXC011 Toxocariasis 46
856 c CHR095 Chronic Progressive External Ophthalmoplegia 46
857 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
858 c ATS393 Autosomal Recessive Cutis Laxa Type I 44
859 c MLG147 Malignant Hyperthermia 1 43
860 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 43
861 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 43
862 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 43
863 c MYF007 Myofibromatosis, Infantile, 1 43
864 MYP094 Myopathy, Spheroid Body 42
865 c MYS014 Miyoshi Muscular Dystrophy 3 41
866 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 41
867 HYL005 Hyaline Body Myopathy 40
868 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 40
869 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 38
870 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
871 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 38
872 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
873 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 37
874 c MYP095 Myopathy, Distal, 4 35
875 MTC037 Mitochondrial Phosphate Carrier Deficiency 34
876 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 33
877 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 32
878 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 32
879 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 31
880 c MYP119 Myopathy, Myofibrillar, 7 30
881 c SNG011 Singleton-Merten Syndrome 1 30
882 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
883 P SNG014 Singleton-Merten Syndrome 30
884 c MLG151 Malignant Hyperthermia 5 28
885 c MYP112 Myopathy, Distal, 3 28
886 c ACQ027 Acquired Cutis Laxa 25
887 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
888 c MLG148 Malignant Hyperthermia 2 24
889 c LTB003 Ltbp4-Related Cutis Laxa 24
890 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
891 c EFM001 Efemp2-Related Cutis Laxa 23
892 c MYF010 Myofibromatosis, Infantile, 2 22
893 c DPH016 Diaphragmatic Hernia 3 22
894 c MLG149 Malignant Hyperthermia 3 22
895 BLD037 Bile Duct Rhabdomyosarcoma 22
896 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 22
897 c MLG150 Malignant Hyperthermia 4 21
898 c SNG012 Singleton-Merten Syndrome 2 21
899 c ATP003 Atp6v0a2-Related Cutis Laxa 20
900 c MLG152 Malignant Hyperthermia 6 19
901 c FBL003 Fbln5-Related Cutis Laxa 19
902 c DPH025 Diaphragmatic Hernia 2 18
903 P HRN027 Hernia, Anterior Diaphragmatic 9
904 P TTL001 Total Internal Ophthalmoplegia 7
905 c RRD027 Rare Disease with Malignant Hyperthermia 4
906 c MYT021 Myotonic Dystrophy 1 69
907 ODN023 Odontochondrodysplasia 68
908 P PTT014 Pitt-Hopkins Syndrome 63
909 P BTH005 Bethlem Myopathy 1 61
910 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57
911 c MYT020 Myotonic Dystrophy 2 57
912 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55
913 c MYP132 Myopathy, Congenital 55
914 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 54
915 CNT099 Contractural Arachnodactyly, Congenital 53
916 c PTT029 Pitt-Hopkins-Like Syndrome 1 49
917 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 48
918 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
919 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44
920 c MYP082 Myopathy, Myofibrillar, 2 41
921 c PTT030 Pitt-Hopkins-Like Syndrome 2 40
922 MYP086 Myopathy with Extrapyramidal Signs 37
923 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 36
924 c PTT042 Pitt-Hopkins-Like Syndrome 35
925 c BTH006 Bethlem Myopathy 2 34
926 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 28
927 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 10
928 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
929 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
930 c BNG038 Benign Autosomal Dominant Myopathy 6
931 P TMP003 Temporal Arteritis 68
932 P MSC005 Muscular Dystrophy 66
933 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64
934 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
935 P ULL002 Ullrich Congenital Muscular Dystrophy 1 57
936 c RGD003 Rigid Spine Muscular Dystrophy 1 56
937 c MYP078 Myopathy, Myofibrillar, 3 50
938 VRT007 Vertical Talus, Congenital 48
939 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 45
940 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 40
941 P BTR001 Botryoid Rhabdomyosarcoma 35
942 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
943 c JVN019 Juvenile Temporal Arteritis 27
944 c MYS033 Miyoshi Muscular Dystrophy 1 56
945 c MSC050 Muscular Dystrophy, Congenital, 1b 38
946 WLK001 Walker-Warburg Syndrome 63
947 P DRM010 Dermatomyositis 61
948 CHL028 Childhood Type Dermatomyositis 58
949 P CNT056 Cantu Syndrome 48
950 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 46
951 c CNT094 Cantú Syndrome and Related Disorders 19



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