Muscle Diseases Category (881 diseases)


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

# Family MCID Name MIFTS
1 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 50
2 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 51
3 SPN402 Spinal Muscular Atrophy, X-Linked 2 41
4 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39
5 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 34
6 c SPN393 Spinal Muscular Atrophy, Type I 53
7 c SPN394 Spinal Muscular Atrophy, Type Iii 49
8 c SPN395 Spinal Muscular Atrophy, Type Ii 47
9 c SPN398 Spinal Muscular Atrophy, Type Iv 40
10 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 41
11 SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 18
12 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 42
13 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 31
14 c CNG112 Congenital Muscular Dystrophy Type 1a 38
15 P LMB006 Limb-Girdle Muscular Dystrophy 55
16 LM2001 Lama2-Related Muscular Dystrophy 21
17 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
18 P RGD004 Rigid Spine Muscular Dystrophy 19
19 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
20 MSC012 Muscular Dystrophy, Duchenne and Becker Type 34
21 FKY002 Fukuyama Type Muscular Dystrophy 16
22 c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 28
23 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 12
24 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 27
25 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 34
26 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 31
27 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 47
28 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 19
29 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 35
30 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 35
31 CST006 Costocoracoid Ligament, Congenitally Short 13
32 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56
33 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 26
34 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 21
35 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 27
36 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 23
37 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 21
38 c EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 38
39 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 34
40 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 29
41 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 20
42 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
43 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 32
44 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 32
45 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31
46 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 28
47 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26
48 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 26
49 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
50 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 18
51 AMY098 Amyotrophy, Monomelic 34
52 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 34
53 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 12
54 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 3
55 SCP012 Scapuloperoneal Myopathy, Myh7-Related 37
56 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 25
57 c PRG001 Progressive Muscular Atrophy 41
58 TBL022 Tibial Muscular Dystrophy, Tardive 35
59 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
60 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 25
61 c LSS005 Lissencephaly 1 54
62 P LSS002 Lissencephaly 51
63 c LSS006 Lissencephaly 2 43
64 c LSS010 Lissencephaly 4 33
65 c LSS009 Lissencephaly 3 28
66 c LSS025 Lissencephaly 5 26
67 c LSS035 Lissencephaly 8 23
68 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 19
69 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 55
70 c CNG012 Congenital Generalized Lipodystrophy 53
71 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 48
72 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 47
73 P ACQ022 Acquired Generalized Lipodystrophy 46
74 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 43
75 BRW006 Brown Syndrome 27
76 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 24
77 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
78 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 7
79 P PRX014 Proximal Spinal Muscular Atrophy 44
80 ADP007 Adie Pupil 40
81 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
82 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 19
83 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 56
84 VCL008 Vacuolar Neuromyopathy 21
85 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
86 OCL023 Ocular Muscular Dystrophy 15
87 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 11
88 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
89 OPH005 Ophthalmoplegic Muscular Dystrophy 2
90 FBR011 Fibrodysplasia Ossificans Progressiva 65
91 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 39
92 SPN267 Spinal Muscular Atrophy, Jokela Type 30
93 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
94 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 22
95 TNS001 Tenosynovial Giant Cell Tumor 36
96 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 29
97 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 25
98 c ULL003 Ullrich Congenital Muscular Dystrophy 2 24
99 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 19
100 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 12
101 TND001 Tendon Sheath Lipoma 11
102 CLL037 Collagen Vi Related Muscular Dystrophy 9
103 UTR041 Uterine Ligament Cancer 9
104 P SPN046 Spinal Muscular Atrophy 65
105 P DST002 Distal Arthrogryposis 61
106 c ART144 Arthrogryposis, Distal, Type 1a 53
107 c ART155 Arthrogryposis, Distal, Type 2b1 47
108 c ART061 Arthrogryposis, Distal, Type 2a 47
109 c ART120 Arthrogryposis, Distal, Type 3 47
110 c DYS067 Dystonia 6, Torsion 38
111 c ART119 Arthrogryposis, Distal, Type 5 36
112 c ART147 Arthrogryposis, Distal, Type 7 35
113 MDN008 Median Arcuate Ligament Syndrome 33
114 WLN001 Welander Distal Myopathy 33
115 c ART104 Arthrogryposis, Distal, Type 5d 30
116 BRW002 Brown's Tendon Sheath Syndrome 30
117 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 28
118 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 26
119 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 24
120 c DYS068 Dystonia 7, Torsion 23
121 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 23
122 c ART156 Arthrogryposis, Distal, Type 2b2 22
123 c ART157 Arthrogryposis, Distal, Type 2b3 21
124 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 21
125 c ART131 Arthrogryposis, Distal, Type 4 20
126 c ART060 Arthrogryposis, Distal, Type 1b 19
127 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
128 c ART128 Arthrogryposis, Distal, Type 6 18
129 MSC158 Muscular Dystrophy, Scapulohumeral 17
130 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 14
131 c ART054 Arthrogryposis, Distal, Type 2e 12
132 P TRS005 Torsion Dystonia with Onset in Infancy 12
133 c TRS025 Torsion Dystonia 2 9
134 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 8
135 c TRS027 Torsion Dystonia 4 7
136 c TRS028 Torsion Dystonia 17 5
137 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
138 OBS369 Obsolete: Congenital Muscular Dystrophy-Muscle Hypertrophy-Severe Intellectual Disability Syndrome 3
139 ART053 Arthrogryposis Spinal Muscular Atrophy 2
140 PGM001 Pigmented Villonodular Synovitis 52
141 PST020 Postpoliomyelitis Syndrome 41
142 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
143 DQR001 De Quervain Disease 31
144 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 24
145 INT146 Intervertebral Disc Disease 64
146 CNT105 Central Core Disease of Muscle 61
147 ENT004 Enthesopathy 46
148 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 37
149 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 25
150 ATM005 Autoimmune Disease of Musculoskeletal System 24
151 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 24
152 CML001 Cumulative Trauma Disorders 20
153 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 17
154 KCH001 Kocher-Debre-Semelaigne Syndrome 13
155 EMR021 Emery-Dreifuss Syndrome 12
156 MST003 Masters-Allen Syndrome 12
157 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 12
158 DPM009 Dpm2-Cdg 12
159 c ATS425 Autosomal Recessive Distal Hereditary Motor Neuronopathy 11
160 SPN387 Spinal Muscular Atrophy, Segmental 8
161 MSC031 Muscular Phosphorylase Kinase Deficiency 6
162 UTR013 Uterine Ligament Papillary Cystadenoma 5
163 c GLY008 Glycogen Storage Disease Ii 68
164 c CNG411 Congenital Disorder of Glycosylation, Type in 66
165 c GLY060 Glycogen Storage Disease Ia 63
166 c GLY003 Glycogen Storage Disease Iii 62
167 P CRN015 Cornelia De Lange Syndrome 60
168 c GLY004 Glycogen Storage Disease V 60
169 P GLY013 Glycogen Storage Disease 59
170 c CNG208 Congenital Disorder of Glycosylation, Type Iic 55
171 c GLY011 Glycogen Storage Disease Vii 55
172 c GLY007 Glycogen Storage Disease Iv 54
173 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
174 c CRN139 Cornelia De Lange Syndrome 1 54
175 c CNG412 Congenital Disorder of Glycosylation, Type Ii 52
176 c GLY005 Glycogen Storage Disease Vi 52
177 STP011 Stapes Ankylosis with Broad Thumbs and Toes 50
178 P ART106 Arterial Calcification, Generalized, of Infancy, 1 49
179 c CNG389 Congenital Disorder of Glycosylation, Type Iim 48
180 P TRT019 Torticollis 48
181 c CNG206 Congenital Disorder of Glycosylation, Type Ie 48
182 c PNT034 Pontocerebellar Hypoplasia, Type 2e 47
183 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
184 DYS064 Dystonia 3, Torsion, X-Linked 45
185 c PNT049 Pontocerebellar Hypoplasia, Type 2d 44
186 BRS064 Bursitis 42
187 c CNG189 Congenital Disorder of Glycosylation, Type Ib 42
188 c PNT037 Pontocerebellar Hypoplasia, Type 3 42
189 c GLY098 Glycogen Storage Disease, Type Ixd 42
190 c PNT010 Pontocerebellar Hypoplasia Type 1 42
191 c CNG190 Congenital Disorder of Glycosylation, Type Iib 41
192 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
193 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
194 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
195 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
196 c CNG197 Congenital Disorder of Glycosylation, Type Ih 40
197 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
198 P PNT019 Pontocerebellar Hypoplasia 39
199 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
200 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
201 c GLY044 Glycogen Storage Disease Ixc 38
202 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
203 c GLY016 Glycogen Storage Disease Ib 38
204 c CNG194 Congenital Disorder of Glycosylation, Type Ig 38
205 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
206 c CNG187 Congenital Disorder of Glycosylation, Type Iid 36
207 c CNG379 Congenital Disorder of Glycosylation, Type It 36
208 c PNT043 Pontocerebellar Hypoplasia, Type 4 35
209 c CNG195 Congenital Disorder of Glycosylation, Type Id 35
210 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
211 c PRG106 Progressive Muscular Dystrophy 34
212 c CNG498 Congenital Disorder of Glycosylation, Type Iin 34
213 c CNG205 Congenital Disorder of Glycosylation, Type Ij 34
214 c GLY097 Glycogen Storage Disease Ixb 33
215 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
216 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
217 c CNG192 Congenital Disorder of Glycosylation, Type Ik 33
218 c CNG200 Congenital Disorder of Glycosylation, Type Iq 33
219 c PNT032 Pontocerebellar Hypoplasia, Type 9 32
220 ERL030 Early-Onset Generalized Limb-Onset Dystonia 32
221 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 32
222 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
223 c CNG386 Congenital Disorder of Glycosylation, Type Iu 31
224 c GLY057 Glycogen Storage Disease X 31
225 c GLY043 Glycogen Storage Disease Xii 30
226 c PNT039 Pontocerebellar Hypoplasia, Type 7 30
227 NDL002 Nodular Tenosynovitis 30
228 c CNG188 Congenital Disorder of Glycosylation, Type if 30
229 c CNG403 Congenital Disorder of Glycosylation, Type Ix 30
230 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
231 c CNG193 Congenital Disorder of Glycosylation, Type Ip 30
232 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 30
233 c CRN209 Cornelia De Lange Syndrome 5 30
234 c CRN134 Cornelia De Lange Syndrome 2 29
235 c GLY009 Glycogen Storage Disease Xv 29
236 c CNG414 Congenital Disorder of Glycosylation, Type Iil 29
237 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 29
238 c GLY017 Glycogen Storage Disease Ic 29
239 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
240 c CRN215 Cornelia De Lange Syndrome 4 28
241 c CNG185 Congenital Disorder of Glycosylation, Type Iig 28
242 c PNT033 Pontocerebellar Hypoplasia, Type 10 28
243 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
244 c GLY023 Glycogen Storage Disease Type 0 27
245 c CRN135 Cornelia De Lange Syndrome 3 27
246 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
247 c PNT047 Pontocerebellar Hypoplasia, Type 2b 26
248 c GLY001 Glycogen Storage Disease Ix 26
249 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
250 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 26
251 c GLY059 Glycogen Storage Disease Xiii 25
252 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
253 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
254 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
255 MSC193 Muscular Lipidosis 24
256 c CNG129 Congenital Torticollis 24
257 c ART112 Arthrogryposis, Distal, Type 10 23
258 c GLY006 Glycogen Storage Disease Viii 23
259 c PNT030 Pontocerebellar Hypoplasia, Type 8 23
260 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
261 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22
262 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 21
263 c GLY093 Glycogen Storage Disease Ixa 21
264 OVR077 Overuse Syndrome 20
265 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
266 RPT005 Repetitive Motion Disorders 18
267 MSC026 Muscular Dystrophy White Matter Spongiosis 16
268 JNK001 Jankovic Rivera Syndrome 15
269 MSC192 Muscular Glycogenosis 14
270 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 14
271 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 13
272 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 12
273 DYT007 Dyt-Tubb4a 12
274 XLN239 X-Linked Distal Hereditary Motor Neuropathy 12
275 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 11
276 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 11
277 HYP751 Hypertrophia Musculorum Vera 11
278 RPT006 Repetitive Stress Injuries 9
279 MSC194 Muscular Tumor 9
280 BSS002 Bassoe Syndrome 8
281 MSC144 Muscular Atrophy, Malignant Neurogenic 8
282 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 8
283 MSC153 Muscular Dystrophy, Cardiac Type 8
284 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 8
285 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 8
286 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
287 TBL002 Tibial Collateral Ligament Bursitis 8
288 MSC197 Muscular Channelopathy 7
289 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 7
290 MSC151 Muscular Hypertonia, Lethal 7
291 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 7
292 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 7
293 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
294 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 7
295 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 7
296 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 6
297 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 6
298 P DSR041 Disorder of Multiple Glycosylation 6
299 MSC155 Muscular Dystrophy, Mabry Type 6
300 MSC145 Muscular Dystrophy, Barnes Type 6
301 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
302 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
303 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
304 LTN025 Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies 4
305 FBL001 Fibular Collateral Ligament Bursitis 4
306 GNR047 Generalized Bulbospinal Muscular Atrophy 3
307 BLB006 Bulbospinal Muscular Atrophy of Adult 3
308 BLB007 Bulbospinal Muscular Atrophy of Childhood 3
309 MSC198 Musculoskeletal Disease with Cataract 3
310 OBS377 Obsolete: Gmppb-Related Congenital Muscular Dystrophy 3
311 OBS382 Obsolete: Autosomal Recessive Limb-Girdle Muscular Dystrophy with Cerebellar Involvement 3
312 P NRL027 Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect 3
313 c NRL029 Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect 3
314 c NRL031 Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect 3
315 OBS094 Obsolete: Arthrogryposis Due to Muscular Dystrophy 2
316 OBS233 Obsolete: Distal Spinal Muscular Atrophy 2
317 OBS238 Obsolete: Chronic Muscular Fatigue and/or Chronic Muscle Pain 2
318 OBS256 Obsolete: Multifocal Muscular Fibrosis-Obstructed Vessels Syndrome 2
319 OBS381 Obsolete: Genetic Muscular Channelopathy 2
320 P OBS797 Obsolete: Congenital Muscular Dystrophy Due to Extracellular Matrix Protein Anomaly 2
321 c OBS798 Obsolete: Congenital Muscular Dystrophy Due to Glycosyltransferase Anomaly 2
322 c OBS799 Obsolete: Congenital Muscular Dystrophy Due to Proteins of the Endoplasmic Reticulum Anomaly 2
323 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 1
324 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 1
325 INC002 Inclusion Body Myositis 66
326 P MYP004 Myopathy 63
327 FBR047 Fibromyalgia 60
328 P SCK002 Sick Sinus Syndrome 56
329 P ATR001 Atrioventricular Septal Defect 55
330 P CNT004 Centronuclear Myopathy 53
331 P MTC133 Mitochondrial Myopathy 53
332 GSG001 Gas Gangrene 52
333 P MYT002 Myotonic Dystrophy 52
334 c MYP072 Myopathy, Myofibrillar, 1 49
335 MYP136 Myopathy, Centronuclear, X-Linked 49
336 c NML003 Nemaline Myopathy 2 48
337 TND005 Tendinitis 45
338 c MYP123 Myopathy, Centronuclear, 1 44
339 MTC004 Mitochondrial Encephalomyopathy 44
340 P MYG005 Myoglobinuria 43
341 c MYP131 Myopathy, Centronuclear, 2 42
342 c MYP079 Myopathy, Myofibrillar, 5 41
343 DYS030 Dysferlinopathy 41
344 MYF002 Myofascial Pain Syndrome 39
345 MYS001 Myositis Ossificans 38
346 c MYG007 Myoglobinuria, Recurrent 37
347 P CNT009 Central Core Myopathy 37
348 c MYP080 Myopathy, Myofibrillar, 4 36
349 CLC004 Calcific Tendinitis 36
350 SPN009 Spindle Cell Rhabdomyosarcoma 36
351 c FML272 Familial Sick Sinus Syndrome 35
352 INT013 Intramuscular Hemangioma 34
353 MYS002 Myositis Fibrosa 34
354 c MTC116 Mitochondrial Myopathy, Infantile, Transient 32
355 SCP010 Scapuloperoneal Myopathy 32
356 DPH006 Diaphragmatic Eventration 32
357 c SCK017 Sick Sinus Syndrome 1 30
358 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 29
359 MYX006 Myxoid Leiomyosarcoma 28
360 c NML022 Nemaline Myopathy 10 28
361 c SCK014 Sick Sinus Syndrome 2 27
362 EPD011 Epidemic Pleurodynia 27
363 c MYP098 Myopathy, Centronuclear, 4 26
364 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 26
365 c ATR047 Atrioventricular Septal Defect 2 26
366 MYP038 Myopathy, Congenital, Compton-North 25
367 MSC004 Muscle Tissue Disease 25
368 c NML010 Nemaline Myopathy 7 25
369 c MYP119 Myopathy, Myofibrillar, 7 25
370 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
371 CNG032 Congenital Structural Myopathy 24
372 c ATR067 Atrioventricular Septal Defect 4 24
373 c MYP118 Myopathy, Myofibrillar, 8 24
374 c ATS432 Autosomal Dominant Distal Myopathy 24
375 GRN036 Granulomatous Myositis 24
376 c ATR071 Atrioventricular Septal Defect 5 23
377 c SCK022 Sick Sinus Syndrome 3 23
378 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
379 c MYP148 Myopathy, Centronuclear, 5 23
380 c MYP116 Myopathy, Distal, 5 23
381 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 20
382 MYP150 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 20
383 c ATR064 Atrioventricular Septal Defect 3 20
384 MYP005 Myopathy of Extraocular Muscle 19
385 c CNG563 Congenital Myopathy with Cores 16
386 MYP039 Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 16
387 c MYG006 Myoglobinuria, Autosomal Dominant 15
388 DST013 Distal Myopathy with Vocal Cord Weakness 14
389 P MYP124 Myopathy, Distal, Infantile-Onset 13
390 BCP001 Bicipital Tenosynovitis 12
391 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 12
392 OVR035 Ovary Leiomyosarcoma 11
393 c ATS431 Autosomal Recessive Distal Myopathy 11
394 GLL014 Gallbladder Rhabdomyosarcoma 10
395 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 10
396 CYL003 Cylindrical Spirals Myopathy 9
397 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
398 OVR023 Ovary Rhabdomyosarcoma 6
399 ANS008 Anus Rhabdomyosarcoma 6
400 TBL004 Tibialis Tendinitis 6
401 ANS009 Anus Leiomyosarcoma 6
402 STR082 Striated Muscle Rhabdoid Tumor 4
403 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 35
404 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
405 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 23
406 SCP002 Scapuloperoneal Spinal Muscular Atrophy 36
407 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 21
408 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
409 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
410 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 28
411 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 29
412 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 23
413 RND001 Round Ligament Malignant Neoplasm 9
414 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 27
415 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 32
416 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 29
417 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
418 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 28
419 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
420 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
421 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
422 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
423 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
424 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
425 DSM004 Desmoid Tumor 61
426 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 53
427 MSC077 Muscle Eye Brain Disease 48
428 c XLN110 X-Linked Charcot-Marie-Tooth Disease 45
429 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 41
430 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 34
431 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 29
432 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
433 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 26
434 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
435 BRD006 Broad Ligament Malignant Neoplasm 8
436 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 45
437 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 42
438 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 24
439 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 19
440 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 16
441 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 15
442 QZM001 Qazi Markouizos Syndrome 14
443 P CHR071 Charcot-Marie-Tooth Disease 65
444 c CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 55
445 P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 46
446 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 44
447 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 43
448 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
449 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 40
450 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 39
451 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 37
452 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 37
453 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 36
454 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 36
455 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
456 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 35
457 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 31
458 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
459 c HRD138 Hereditary Motor and Sensory Neuropathy V 29
460 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 28
461 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 27
462 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 27
463 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
464 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
465 c CHR135 Charcot-Marie-Tooth Disease Type 2a 25
466 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 25
467 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 24
468 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
469 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 24
470 c CHR139 Charcot-Marie-Tooth Disease Type 2c 23
471 c CHR549 Charcot-Marie-Tooth Disease Type 2l 21
472 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 21
473 c CHR026 Charcot-Marie-Tooth Disease Type X 20
474 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 19
475 c CHR142 Charcot-Marie-Tooth Disease Type 2f 19
476 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
477 c CHR550 Charcot-Marie-Tooth Disease Type 2n 17
478 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
479 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
480 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
481 c CHR143 Charcot-Marie-Tooth Disease Type 2g 11
482 c CHR571 Charcot-Marie-Tooth Disease Type 5 11
483 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 11
484 c CHR551 Charcot-Marie-Tooth Disease Type 2o 9
485 c CHR553 Charcot-Marie-Tooth Disease Type 2q 9
486 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 7
487 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 7
488 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
489 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
490 CNN005 Connective Tissue Disease 68
491 MNK001 Menkes Disease 62
492 SLH001 Salih Myopathy 35
493 ADR023 Adrenomyodystrophy 31
494 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 30
495 P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 27
496 NCR015 Necrotizing Autoimmune Myopathy 26
497 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 22
498 UTR040 Uterine Ligament Adenocarcinoma 8
499 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
500 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
501 UTR012 Uterine Ligament Serous Adenocarcinoma 6
502 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
503 P MYT023 Myotonia Congenita 53
504 END021 Endomyocardial Fibrosis 50
505 c MYT029 Myotonia Congenita, Autosomal Recessive 41
506 MTR007 Motor Peripheral Neuropathy 39
507 c MYT027 Myotonia Congenita, Autosomal Dominant 35
508 DYT006 Dyt-Tor1a 32
509 P DST101 Distal Hereditary Motor Neuropathies 29
510 c PNT035 Pontocerebellar Hypoplasia, Type 1c 28
511 PLM104 Palmoplantar Keratoderma, Nagashima Type 24
512 c DST106 Distal Hereditary Motor Neuronopathy Type 2 22
513 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
514 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
515 c DST092 Distal Hereditary Motor Neuropathy Type 7 15
516 c ATS428 Autosomal Recessive Distal Hereditary Motor Neuropathy 12
517 c DST105 Distal Hereditary Motor Neuronopathy Type 7 11
518 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
519 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 10
520 SPN436 Spinal Muscular Atrophy Associated with Central Nervous System Anomaly 3
521 GNT172 Genetic Neurological Muscular Channelopathy 3
522 c NRL028 Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect 3
523 c NRL030 Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect 3
524 c SPN225 Spondyloarthropathy 1 74
525 c FML021 Familial Hypercholesterolemia 67
526 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 64
527 PSD012 Pseudoachondroplasia 55
528 ADN027 Adenomyosis 55
529 BRD001 Brody Myopathy 55
530 P SPN052 Spondyloarthropathy 54
531 CNG046 Congenital Fiber-Type Disproportion 54
532 P MYS079 Miyoshi Muscular Dystrophy 53
533 P MYP087 Myopathy, Tubular Aggregate, 1 52
534 ANK001 Ankylosis 51
535 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 49
536 c HYP837 Hypercholesterolemia, Familial, 2 48
537 SNT005 Sinoatrial Node Disease 46
538 c HYP840 Hypercholesterolemia, Familial, 4 46
539 MYP100 Myopathy, X-Linked, with Excessive Autophagy 45
540 c HYP272 Hypercholesterolemia, Familial, 3 44
541 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 43
542 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 43
543 P HYP265 Hypotonia 43
544 c MYS014 Miyoshi Muscular Dystrophy 3 43
545 DPH021 Diaphragm Disease 43
546 P HRD086 Hereditary Hypophosphatemic Rickets 41
547 PYM001 Pyomyositis 41
548 c NML005 Nemaline Myopathy 4 40
549 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 39
550 SPS057 Spasticity 38
551 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 37
552 SMT002 Smooth Muscle Tumor 37
553 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 36
554 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 35
555 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 35
556 SML014 Small Intestine Leiomyosarcoma 35
557 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 35
558 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 35
559 PTL003 Patellar Tendinitis 35
560 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 35
561 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 35
562 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 34
563 CHR387 Chromosome Xp21 Deletion Syndrome 32
564 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 32
565 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 31
566 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 31
567 CNV006 Conventional Leiomyosarcoma 30
568 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 30
569 c MYP088 Myopathy, Tubular Aggregate, 2 29
570 LNG023 Lung Leiomyosarcoma 29
571 c INF031 Inflammatory Leiomyosarcoma 28
572 EPT011 Epithelioid Leiomyosarcoma 28
573 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 28
574 c NML007 Nemaline Myopathy 6 28
575 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 27
576 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 27
577 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
578 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
579 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
580 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 25
581 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 24
582 c ART102 Arterial Calcification, Generalized, of Infancy, 2 24
583 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 24
584 c JVN047 Juvenile Spondyloarthropathy 24
585 MYB001 Myoblastoma 24
586 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 23
587 CLN012 Colon Leiomyosarcoma 23
588 c NML021 Nemaline Myopathy 9 23
589 c INF065 Infantile Hypotonia 23
590 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 23
591 WND002 Wandering Spleen 22
592 c MYS019 Miyoshi Muscular Dystrophy 2 21
593 PLM004 Pulmonary Artery Leiomyosarcoma 21
594 MYS010 Myostatin-Related Muscle Hypertrophy 20
595 c RPP007 Rippling Muscle Disease 1 19
596 c SPN226 Spondyloarthropathy 2 16
597 DST103 Distal Muscular Dystrophy with Anterior Tibial Onset 15
598 PLM003 Pulmonary Vein Leiomyosarcoma 15
599 FLP002 Floppy Infant Syndrome 14
600 c SPN256 Spondyloarthropathy 3 14
601 GLL016 Gallbladder Leiomyosarcoma 14
602 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 13
603 LRY014 Larynx Leiomyosarcoma 12
604 GRN012 Granular Cell Leiomyosarcoma 11
605 TRC088 Trochleitis 11
606 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 10
607 CNT030 Central Nervous System Leiomyosarcoma 10
608 MDS017 Mediastinum Leiomyosarcoma 9
609 FLL007 Fallopian Tube Leiomyosarcoma 8
610 CNT021 Central Nervous System Rhabdomyosarcoma 8
611 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
612 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 7
613 MDS008 Mediastinum Rhabdomyosarcoma 6
614 MXD015 Mixed Type Rhabdomyosarcoma 5
615 P RRH027 Rare Hypercholesterolemia 5
616 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
617 TNS002 Tenosynovitis of Foot and Ankle 4
618 DST104 Distal Muscular Dystrophy Tateyama Type 3
619 PRN038 Prune Belly Syndrome 47
620 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
621 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66
622 P DYS154 Dystonia 65
623 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 64
624 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
625 c DYS056 Dystonia 12 57
626 c DYS119 Dystonia 9 45
627 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 39
628 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 37
629 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 37
630 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 37
631 c DYS059 Dystonia 16 36
632 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 32
633 c DYS146 Dystonia 24 32
634 c HRD198 Hereditary Dystonia 32
635 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 30
636 c DYS162 Dystonia, Juvenile-Onset 30
637 c DYS145 Dystonia 23 29
638 c DYS151 Dystonia 25 29
639 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 27
640 c DYS172 Dystonia 27 26
641 c DYS138 Dystonia 21 22
642 MLN064 Melanoma of Soft Tissue 22
643 c RRD039 Rare Dystonia 9
644 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 6
645 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 6
646 OST012 Osteoarthritis 80
647 P PRK057 Parkinson Disease, Late-Onset 77
648 KRN002 Kearns-Sayre Syndrome 64
649 c RHB024 Rhabdomyosarcoma 2 64
650 P RHB003 Rhabdomyosarcoma 62
651 MSC152 Muscular Dystrophy, Becker Type 60
652 P EMR001 Emery-Dreifuss Muscular Dystrophy 59
653 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
654 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 57
655 P BTH005 Bethlem Myopathy 1 56
656 ALV005 Alveolar Soft Part Sarcoma 56
657 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 56
658 c MYP132 Myopathy, Congenital 55
659 P CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55
660 c MYT020 Myotonic Dystrophy 2 54
661 P MYS005 Myositis 54
662 MSC190 Muscular Disease 54
663 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 53
664 P EMB005 Embryonal Rhabdomyosarcoma 52
665 MYM001 Myoma 52
666 P MSC003 Muscular Atrophy 52
667 OCL008 Oculopharyngeal Muscular Dystrophy 50
668 MSC072 Muscle Cancer 49
669 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
670 c NML002 Nemaline Myopathy 1 48
671 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 47
672 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
673 P RPP006 Rippling Muscle Disease 2 46
674 c RHB023 Rhabdomyosarcoma, Embryonal, 1 44
675 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 44
676 P DMY001 Demyelinating Polyneuropathy 43
677 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 41
678 P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 41
679 c HRD173 Hereditary Late-Onset Parkinson Disease 41
680 c MYP082 Myopathy, Myofibrillar, 2 41
681 PLM030 Pleomorphic Rhabdomyosarcoma 40
682 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 40
683 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 40
684 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
685 c PRK093 Parkinson Disease 8, Autosomal Dominant 39
686 c ERL056 Early-Onset Parkinson's Disease 38
687 c PRK085 Parkinson Disease 1, Autosomal Dominant 37
688 TNS014 Tenosynovitis 37
689 MYT003 Myotonic Disease 36
690 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 36
691 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 36
692 TBL009 Tibial Muscular Dystrophy 36
693 c PRK065 Parkinson Disease 20, Early-Onset 35
694 c PRK071 Parkinson Disease 14, Autosomal Recessive 34
695 c MYP081 Myopathy, Myofibrillar, 6 34
696 c PRK025 Parkinson Disease 10 34
697 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 33
698 P MSC002 Muscular Dystrophy-Dystroglycanopathy 32
699 c BTH006 Bethlem Myopathy 2 32
700 SKL003 Skeletal Muscle Cancer 32
701 c ADL027 Adult Dermatomyositis 31
702 c MYP095 Myopathy, Distal, 4 30
703 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 30
704 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 29
705 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 29
706 c SVR040 Severe Congenital Nemaline Myopathy 29
707 RDC010 Reducing Body Myopathy 28
708 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 28
709 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 28
710 c PRK052 Parkinson Disease 17 28
711 c INT274 Intermediate Congenital Nemaline Myopathy 27
712 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 27
713 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 27
714 ATR076 Atrophic Muscular Disease 27
715 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
716 c PRK091 Parkinson Disease 4, Autosomal Dominant 27
717 SKL002 Skeletal Muscle Neoplasm 26
718 c NML025 Nemaline Myopathy 8 25
719 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 25
720 c PRK098 Parkinson Disease 5, Autosomal Dominant 25
721 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
722 c PRK070 Parkinson Disease 21 24
723 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
724 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
725 c GNR020 Gne-Related Myopathy 23
726 c PRK083 Parkinson Disease 22, Autosomal Dominant 23
727 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 22
728 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 22
729 c ADL068 Adult-Onset Nemaline Myopathy 22
730 c RHB021 Rhabdomyosarcoma, Embryonal, 2 21
731 c JVN058 Juvenile-Onset Parkinson's Disease 21
732 c PRK022 Parkinson Disease 12 21
733 c PRK008 Parkinson Disease Type 9 21
734 c CHR688 Chronic Acquired Demyelinating Polyneuropathy 20
735 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 20
736 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 19
737 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 19
738 c CNG579 Congenital Nemaline Myopathy 18
739 c PRK058 Parkinson Disease 16 17
740 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 17
741 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17
742 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 16
743 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 16
744 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 15
745 c VRL025 Viral Myositis 15
746 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 14
747 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 14
748 c BCT018 Bacterial Myositis 14
749 SPR003 Superior Vena Cava Leiomyosarcoma 13
750 BNL001 Bone Leiomyosarcoma 13
751 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 12
752 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 9
753 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 9
754 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
755 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
756 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 9
757 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 9
758 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 9
759 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
760 c BNG038 Benign Autosomal Dominant Myopathy 6
761 c ACT242 Acute and Subacute Inflammatory Demyelinating Polyneuropathy 4
762 CRP001 Carpal Tunnel Syndrome 68
763 P CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 40
764 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 40
765 c HYP836 Hypercholesterolemia, Familial, 1 74
766 P LMY004 Leiomyosarcoma 63
767 P CTS001 Cutis Laxa 60
768 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 60
769 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
770 P MLG056 Malignant Hyperthermia 60
771 CRT033 Corticobasal Degeneration 55
772 P FML012 Familial Partial Lipodystrophy 54
773 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 54
774 P NML001 Nemaline Myopathy 51
775 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 51
776 c LPD021 Lipodystrophy, Familial Partial, Type 3 49
777 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
778 c ATS393 Autosomal Recessive Cutis Laxa Type I 49
779 P MYF003 Myofibrillar Myopathy 47
780 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 46
781 c CTS045 Cutis Laxa, Autosomal Dominant 1 44
782 c NML004 Nemaline Myopathy 3 44
783 c LPD019 Lipodystrophy, Partial, Acquired 44
784 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 43
785 c MLG147 Malignant Hyperthermia 1 43
786 TXC011 Toxocariasis 43
787 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 42
788 MYP094 Myopathy, Spheroid Body 41
789 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
790 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 40
791 c LPD040 Lipodystrophy, Familial Partial, Type 1 40
792 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 39
793 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 39
794 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 38
795 c NML006 Nemaline Myopathy 5 38
796 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
797 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 36
798 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 36
799 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
800 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
801 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 34
802 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 31
803 c SNG011 Singleton-Merten Syndrome 1 31
804 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 30
805 P SNG014 Singleton-Merten Syndrome 30
806 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 30
807 MTC037 Mitochondrial Phosphate Carrier Deficiency 29
808 HYL005 Hyaline Body Myopathy 29
809 c MLG151 Malignant Hyperthermia 5 28
810 c CTS031 Cutis Laxa, Autosomal Dominant 2 28
811 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 27
812 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 27
813 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
814 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
815 c CTS041 Cutis Laxa, Autosomal Dominant 3 26
816 c ACQ027 Acquired Cutis Laxa 26
817 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
818 c LPD044 Lipodystrophy, Familial Partial, Type 7 24
819 c MLG148 Malignant Hyperthermia 2 24
820 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 24
821 c MYP112 Myopathy, Distal, 3 22
822 c ATS451 Autosomal Recessive Cutis Laxa Type 2 22
823 c MLG149 Malignant Hyperthermia 3 21
824 c MLG150 Malignant Hyperthermia 4 21
825 c SNG012 Singleton-Merten Syndrome 2 20
826 c MLG152 Malignant Hyperthermia 6 19
827 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 17
828 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 16
829 BLD037 Bile Duct Rhabdomyosarcoma 11
830 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
831 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 9
832 c RRD027 Rare Disease with Malignant Hyperthermia 4
833 MSC157 Muscular Dystrophy, Duchenne Type 70
834 P TMP003 Temporal Arteritis 68
835 P MSC005 Muscular Dystrophy 68
836 MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
837 ODN023 Odontochondrodysplasia 61
838 P PTT014 Pitt-Hopkins Syndrome 55
839 c RGD003 Rigid Spine Muscular Dystrophy 1 55
840 CHL028 Childhood Type Dermatomyositis 55
841 P ULL002 Ullrich Congenital Muscular Dystrophy 1 55
842 P INF049 Infantile Myofibromatosis 53
843 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 52
844 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
845 c MYP125 Myopathy, Distal, 1 48
846 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
847 c CHR095 Chronic Progressive External Ophthalmoplegia 46
848 LYM009 Lymphocytic Choriomeningitis 45
849 c MYF007 Myofibromatosis, Infantile, 1 44
850 c PTT029 Pitt-Hopkins-Like Syndrome 1 40
851 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 37
852 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 33
853 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 31
854 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 31
855 c PTT030 Pitt-Hopkins-Like Syndrome 2 28
856 c JVN019 Juvenile Temporal Arteritis 28
857 c PTT042 Pitt-Hopkins-Like Syndrome 27
858 HYD030 Hydroxykynureninuria 26
859 c MYF010 Myofibromatosis, Infantile, 2 22
860 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 20
861 P TTL001 Total Internal Ophthalmoplegia 8
862 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
863 c DPH024 Diaphragmatic Hernia, Congenital 66
864 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 61
865 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 58
866 CYS005 Cysticercosis 55
867 P CNT056 Cantu Syndrome 51
868 c MYP078 Myopathy, Myofibrillar, 3 44
869 c MSC050 Muscular Dystrophy, Congenital, 1b 38
870 VRT007 Vertical Talus, Congenital 37
871 P BTR001 Botryoid Rhabdomyosarcoma 33
872 c DPH016 Diaphragmatic Hernia 3 22
873 c CNT094 Cantú Syndrome and Related Disorders 20
874 c DPH025 Diaphragmatic Hernia 2 18
875 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 18
876 P HRN027 Hernia, Anterior Diaphragmatic 8
877 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
878 c MYT021 Myotonic Dystrophy 1 68
879 WLK001 Walker-Warburg Syndrome 62
880 c MYS033 Miyoshi Muscular Dystrophy 1 52
881 P DRM010 Dermatomyositis 62



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