Muscle Diseases Category (647 diseases)


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

# Family MCID Name MIFTS
1 P NRN017 Neuronopathy, Distal Hereditary Motor, Type Vi 36
2 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 23
3 c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 53
4 FCS012 Facioscapulohumeral Muscular Dystrophy 1 50
5 c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 49
6 SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 53
7 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51
8 c SPN315 Spinal Muscular Atrophy-1 46
9 c SPN317 Spinal Muscular Atrophy-3 41
10 c SPN316 Spinal Muscular Atrophy-2 36
11 c SPN318 Spinal Muscular Atrophy-4 36
12 c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44
13 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 53
14 P SPN046 Spinal Muscular Atrophy 63
15 P EMR001 Emery-Dreifuss Muscular Dystrophy 55
16 c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 39
17 DCH001 Duchenne Muscular Dystrophy 79
18 c MSC135 Muscular Dystrophy, Limb-Girdle, Type 2y 36
19 BCK001 Becker Muscular Dystrophy 71
20 c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 39
21 OCL008 Oculopharyngeal Muscular Dystrophy 50
22 c CNG112 Congenital Muscular Dystrophy Type 1a 34
23 c LM2001 Lama2-Related Muscular Dystrophy 19
24 P ULL002 Ullrich Congenital Muscular Dystrophy 1 46
25 c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 40
26 c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 30
27 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 38
28 c SPN260 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Ad 26
29 TBL022 Tibial Muscular Dystrophy, Tardive 21
30 P LMB006 Limb-Girdle Muscular Dystrophy 50
31 c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 35
32 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 27
33 MSC012 Muscular Dystrophy, Duchenne and Becker Type 25
34 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
35 c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 27
36 c MSC124 Muscular Dystrophy, Congenital 54
37 MSC051 Muscular Dystrophy, Rigid Spine, 1 45
38 FKY002 Fukuyama Type Muscular Dystrophy 18
39 c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 37
40 c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 37
41 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
42 SPN303 Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 24
43 SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 32
44 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 13
45 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46
46 MSC039 Muscular Dystrophy, Congenital Merosin-Deficient 45
47 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
48 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
49 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
50 CST006 Costocoracoid Ligament, Congenitally Short 13
51 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
52 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39
53 P SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 23
54 P MSC005 Muscular Dystrophy 65
55 c MSC049 Muscular Dystrophy, Limb-Girdle, Type Ic 37
56 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
57 P SPN285 Spinal Muscular Atrophy, Lower Extremity-Predominant 1, Ad 25
58 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 41
59 c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35
60 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 41
61 c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 33
62 c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 32
63 c MSC138 Muscular Dystrophy, Limb-Girdle, Type 1g 30
64 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42
65 MSC052 Muscular Dystrophy, Congenital, Due to Itga7 Deficiency 23
66 P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 24
67 P MYS033 Miyoshi Muscular Dystrophy 1 42
68 c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39
69 c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36
70 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
71 c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 44
72 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
73 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 25
74 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 25
75 c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 24
76 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
77 c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 30
78 c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 21
79 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 4
80 c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 32
81 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31
82 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29
83 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26
84 FSC006 Fascioscapulohumeral Muscular Dystrophy 2, Digenic 26
85 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 24
86 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 21
87 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 18
88 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 20
89 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 19
90 SPN088 Spinal Muscular Atrophy Ryukyuan Type 10
91 P LSS002 Lissencephaly 48
92 c LSS005 Lissencephaly 1 40
93 c LSS006 Lissencephaly 2 29
94 c LSS010 Lissencephaly 4 29
95 AMY098 Amyotrophy, Monomelic 28
96 c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 27
97 c LSS009 Lissencephaly 3 25
98 c LSS025 Lissencephaly 5 24
99 c LSS035 Lissencephaly 8 17
100 c DCX002 Dcx-Related Lissencephaly 6
101 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
102 PRX014 Proximal Spinal Muscular Atrophy 39
103 c PRG001 Progressive Muscular Atrophy 39
104 c MSC050 Muscular Dystrophy, Congenital, 1b 36
105 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35
106 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 32
107 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27
108 c MYS014 Miyoshi Muscular Dystrophy 3 25
109 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 17
110 JNK001 Jankovic Rivera Syndrome 14
111 c EMR013 Emery-Dreifuss Muscular Dystrophy 7, Ad 22
112 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 20
113 OCL023 Ocular Muscular Dystrophy 14
114 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 13
115 RND001 Round Ligament Malignant Neoplasm 13
116 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 11
117 SPN196 Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant 11
118 c SYN035 Syne2-Related Emery-Dreifuss Muscular Dystrophy 10
119 c SYN034 Syne1-Related Emery-Dreifuss Muscular Dystrophy 9
120 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
121 OPH005 Ophthalmoplegic Muscular Dystrophy 3
122 c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 22
123 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 21
124 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 18
125 c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 17
126 P MYP004 Myopathy 68
127 c CNG464 Congenital Myopathy 50
128 DST004 Distal Muscular Dystrophy 38
129 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 29
130 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 28
131 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 24
132 c GNR020 Gne-Related Myopathy 15
133 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 14
134 c BNG038 Benign Autosomal Dominant Myopathy 8
135 CLL037 Collagen Vi Related Muscular Dystrophy 7
136 c MYP082 Myopathy, Myofibrillar, 2 40
137 P MYF003 Myofibrillar Myopathy 40
138 c PRG106 Progressive Muscular Dystrophy 40
139 c DYS103 Dystonia-1, Torsion 39
140 c MYP078 Myopathy, Myofibrillar, 3 35
141 TNS001 Tenosynovial Giant Cell Tumor 34
142 c MYP079 Myopathy, Myofibrillar, 5 34
143 P DYS067 Dystonia 6, Torsion 31
144 WLN001 Welander Distal Myopathy 27
145 c MYP080 Myopathy, Myofibrillar, 4 27
146 c MYP081 Myopathy, Myofibrillar, 6 27
147 c NRP022 Neuropathy, Distal Hereditary Motor, Type Viib 26
148 P DST003 Distal Hereditary Motor Neuropathy 23
149 c NRP019 Neuropathy, Distal Hereditary Motor, Type Iib 23
150 c MYP119 Myopathy, Myofibrillar, 7 20
151 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 20
152 c MYP118 Myopathy, Myofibrillar, 8 18
153 ATR076 Atrophic Muscular Disease 18
154 MSC026 Muscular Dystrophy White Matter Spongiosis 17
155 c TRS025 Torsion Dystonia 2 16
156 BRW002 Brown's Tendon Sheath Syndrome 15
157 c TRS026 Torsion Dystonia 7 15
158 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 13
159 c TRS027 Torsion Dystonia 4 13
160 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 13
161 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 13
162 c FKR001 Fkrp-Related Muscle Diseases 12
163 BRD006 Broad Ligament Malignant Neoplasm 12
164 c TRS024 Torsion Dystonia 13 11
165 c EMD001 Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked 11
166 c TRS005 Torsion Dystonia with Onset in Infancy 10
167 UTR041 Uterine Ligament Cancer 10
168 c AN5001 Ano5-Related Muscle Diseases 9
169 c FHL001 Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked 9
170 c CNG446 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 10 9
171 c CNG447 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 12 9
172 c TMM011 Tmem43-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 9
173 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 7
174 c CNG448 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 13 7
175 c TRS028 Torsion Dystonia 17 7
176 c DNJ002 Dnajb6-Related Myofibrillar Myopathy 7
177 c FHL002 Fhl1-Related Myofibrillar Myopathy 7
178 CNG440 Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 6
179 c DG1001 Dag1-Related Muscle Diseases 6
180 CNG505 Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome 6
181 c CHK004 Chkb-Related Muscle Diseases 6
182 c CL1005 Col12a1-Related Muscle Diseases 6
183 c FKT002 Fktn-Related Muscle Diseases 6
184 c LMN003 Lmna-Related Muscle Diseases 6
185 c PMG001 Pomgnt1-Related Muscle Diseases 6
186 c PMT001 Pomt1-Related Muscle Diseases 6
187 c PMT002 Pomt2-Related Muscle Diseases 6
188 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
189 TND001 Tendon Sheath Lipoma 5
190 ART053 Arthrogryposis Spinal Muscular Atrophy 4
191 HYP235 Hypotonic Sclerotic Muscular Dystrophy 4
192 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
193 P PNT019 Pontocerebellar Hypoplasia 38
194 c PNT029 Pontocerebellar Hypoplasia Type 2d 36
195 c PNT034 Pontocerebellar Hypoplasia, Type 2e 36
196 c PNT037 Pontocerebellar Hypoplasia, Type 3 30
197 c PNT022 Pontocerebellar Hypoplasia Type 2a 30
198 c PNT013 Pontocerebellar Hypoplasia Type 4 30
199 c PNT018 Pontocerebellar Hypoplasia, Type 1b 30
200 c PNT017 Pontocerebellar Hypoplasia Type 1a 29
201 c PNT014 Pontocerebellar Hypoplasia Type 5 28
202 c EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 27
203 c PNT032 Pontocerebellar Hypoplasia, Type 9 26
204 c PNT033 Pontocerebellar Hypoplasia, Type 10 26
205 c PNT020 Pontocerebellar Hypoplasia Type 2b 26
206 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
207 c PNT039 Pontocerebellar Hypoplasia, Type 7 23
208 c PNT021 Pontocerebellar Hypoplasia Type 2c 23
209 c PNT035 Pontocerebellar Hypoplasia, Type 1c 23
210 SPN267 Spinal Muscular Atrophy, Jokela Type 21
211 c PNT042 Pontocerebellar Hypoplasia, Type 2f 20
212 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 20
213 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 16
214 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
215 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 9
216 c TSN001 Tsen2-Related Pontocerebellar Hypoplasia 8
217 c TSN002 Tsen34-Related Pontocerebellar Hypoplasia 8
218 P MSC033 Muscle Disorders 52
219 TNS014 Tenosynovitis 31
220 c ULL003 Ullrich Congenital Muscular Dystrophy 2 19
221 SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 17
222 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 13
223 MSC031 Muscular Phosphorylase Kinase Deficiency 8
224 P DST002 Distal Arthrogryposis 57
225 P MSC003 Muscular Atrophy 49
226 P CNG411 Congenital Disorder of Glycosylation, Type in 48
227 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
228 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
229 c ART119 Arthrogryposis, Distal, Type 5 41
230 c ART120 Arthrogryposis, Distal, Type 3 41
231 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
232 c ART117 Arthrogryposis, Distal, Type 2b 38
233 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
234 DYS171 Dystonia-Parkinsonism, X-Linked 34
235 c ART061 Arthrogryposis, Distal, Type 2a 34
236 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
237 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
238 P MLT028 Multiminicore Disease 33
239 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
240 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
241 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
242 c CNG379 Congenital Disorder of Glycosylation, Type It 31
243 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
244 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
245 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
246 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
247 P MSC002 Muscular Dystrophy-Dystroglycanopathy 29
248 c CNG188 Congenital Disorder of Glycosylation, Type if 29
249 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
250 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
251 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
252 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
253 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
254 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
255 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
256 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
257 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
258 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
259 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
260 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
261 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
262 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
263 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
264 c ART104 Arthrogryposis, Distal, Type 5d 24
265 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
266 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
267 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
268 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
269 c ART112 Arthrogryposis, Distal, Type 10 22
270 c ART122 Arthrogryposis, Distal, Type 8 22
271 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
272 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
273 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
274 PTL003 Patellar Tendinitis 21
275 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
276 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
277 c ART128 Arthrogryposis, Distal, Type 6 20
278 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20
279 ANT051 Anterior Cruciate Ligament Tears 19
280 c ART060 Arthrogryposis, Distal, Type 1b 19
281 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
282 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 18
283 c ART131 Arthrogryposis, Distal, Type 4 18
284 ERL030 Early-Onset Generalized Limb-Onset Dystonia 18
285 PRT108 Puerto Rican Infant Hypotonia Syndrome 17
286 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 15
287 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 14
288 c SLN009 Selenon-Related Myopathy 13
289 c ATP005 Atp7a-Related Distal Motor Neuropathy 12
290 c DST092 Distal Hereditary Motor Neuropathy Type 7 11
291 c MYS019 Miyoshi Muscular Dystrophy 2 11
292 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
293 c GTD001 Gtdc2-Related Muscle Diseases 10
294 c DST026 Distal Spinal Muscular Atrophy 4 9
295 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
296 c SLN008 Selenon-Related Multiminicore Disease 9
297 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 9
298 c LRG018 Large1-Related Muscle Diseases 8
299 c ISP001 Ispd-Related Muscle Diseases 8
300 MST003 Masters-Allen Syndrome 6
301 TBL002 Tibial Collateral Ligament Bursitis 6
302 c CNG487 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 6 6
303 c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6
304 c SYN071 Syne2-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6
305 c RYR002 Ryr1-Related Multiminicore Disease 5
306 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 5
307 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 4
308 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 4
309 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
310 UTR013 Uterine Ligament Papillary Cystadenoma 4
311 CNG488 Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B 6 4
312 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 4
313 FBL001 Fibular Collateral Ligament Bursitis 3
314 CLL034 Collagen Type Vi-Related Autosomal Dominant Limb-Girdle Muscular Dystrophy 3
315 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 2
316 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 2
317 P MYS005 Myositis 56
318 PNN001 Panniculitis 49
319 P MTC004 Mitochondrial Encephalomyopathy 43
320 DPH021 Diaphragm Disease 42
321 MYF002 Myofascial Pain Syndrome 38
322 TND005 Tendinitis 38
323 MSC004 Muscle Tissue Disease 37
324 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 35
325 P MYG005 Myoglobinuria 34
326 CLC004 Calcific Tendinitis 34
327 c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 33
328 MYS002 Myositis Fibrosa 33
329 MYT003 Myotonic Disease 32
330 c NML017 Nemaline Myopathy 4, Autosomal Dominant 30
331 c NML014 Nemaline Myopathy 1, Autosomal Dominant or Recessive 30
332 MYS001 Myositis Ossificans 30
333 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
334 c NML009 Nemaline Myopathy 2, Autosomal Recessive 28
335 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 27
336 DPH006 Diaphragmatic Eventration 27
337 CNG032 Congenital Structural Myopathy 25
338 c MYG003 Myoglobinuria Recurrent 25
339 c NML022 Nemaline Myopathy 10 25
340 c NML018 Nemaline Myopathy 7, Autosomal Recessive 24
341 c NML019 Nemaline Myopathy 6, Autosomal Dominant 24
342 c NML021 Nemaline Myopathy 9 23
343 c NML016 Nemaline Myopathy 8, Autosomal Recessive 23
344 GRN036 Granulomatous Myositis 23
345 c SVR040 Severe Congenital Nemaline Myopathy 23
346 MYP038 Myopathy, Congenital, Compton-North 22
347 c INT274 Intermediate Congenital Nemaline Myopathy 21
348 c NML024 Nemaline Myopathy 11, Autosomal Recessive 19
349 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 17
350 SCP010 Scapuloperoneal Myopathy 17
351 c BCT018 Bacterial Myositis 16
352 MYP005 Myopathy of Extraocular Muscle 16
353 BCP001 Bicipital Tenosynovitis 15
354 c ADL068 Adult-Onset Nemaline Myopathy 15
355 c VRL025 Viral Myositis 14
356 c ACT122 Acta1-Related Nemaline Myopathy 14
357 c MYG006 Myoglobinuria, Autosomal Dominant 13
358 c LMD001 Lmod3-Related Nemaline Myopathy 12
359 c NBR001 Neb-Related Nemaline Myopathy 12
360 c KLH003 Klhl40-Related Nemaline Myopathy 11
361 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 10
362 c KBT001 Kbtbd13-Related Nemaline Myopathy 10
363 c TPM004 Tpm2-Related Nemaline Myopathy 10
364 c TNN009 Tnnt1-Related Nemaline Myopathy 10
365 c CFL004 Cfl2-Related Nemaline Myopathy 10
366 c KLH004 Klhl41-Related Nemaline Myopathy 9
367 c TPM006 Tpm3-Related Nemaline Myopathy 9
368 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
369 TNS002 Tenosynovitis of Foot and Ankle 4
370 TBL004 Tibialis Tendinitis 4
371 c MYG002 Myoglobinuria Dominant Form 3
372 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 26
373 WLK001 Walker-Warburg Syndrome 52
374 SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 22
375 P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 24
376 c NRP032 Neuropathy, Distal Hereditary Motor, Type Va 25
377 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
378 c DST022 Distal Hereditary Motor Neuropathy Type V 25
379 c CNG012 Congenital Generalized Lipodystrophy 43
380 P ACQ022 Acquired Generalized Lipodystrophy 42
381 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 34
382 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33
383 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 31
384 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30
385 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
386 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
387 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28
388 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
389 ADP007 Adie Pupil 35
390 BRW006 Brown Syndrome 31
391 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
392 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28
393 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
394 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 26
395 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25
396 SCP008 Scapuloperoneal Syndrome, Myopathic Type 25
397 c MSC096 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 8 19
398 P BTH005 Bethlem Myopathy 1 46
399 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26
400 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 23
401 c BTH006 Bethlem Myopathy 2 19
402 c MYP072 Myopathy, Myofibrillar, 1 41
403 P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 40
404 c CHR374 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3 33
405 c CHR373 Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2 29
406 MDN008 Median Arcuate Ligament Syndrome 28
407 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 25
408 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 24
409 c MYT021 Myotonic Dystrophy 1 61
410 c MYT020 Myotonic Dystrophy 2 57
411 P MYT002 Myotonic Dystrophy 48
412 PST020 Postpoliomyelitis Syndrome 31
413 HRD038 Harding Ataxia 8
414 MNK001 Menkes Disease 63
415 c CHR536 Charcot-Marie-Tooth Disease, Type 1a 58
416 c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53
417 c CHR527 Charcot-Marie-Tooth Disease, Type 1b 47
418 c CHR537 Charcot-Marie-Tooth Disease, Type 1e 46
419 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
420 c CHR530 Charcot-Marie-Tooth Disease, Type 2b 42
421 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 42
422 c CHR535 Charcot-Marie-Tooth Disease, Type 1c 42
423 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 41
424 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 41
425 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
426 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 39
427 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
428 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 39
429 c CHR534 Charcot-Marie-Tooth Disease, Type 1d 38
430 c CHR531 Charcot-Marie-Tooth Disease, Type 2d 36
431 c CHR533 Charcot-Marie-Tooth Disease, Type 1f 36
432 c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 34
433 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
434 c CHR402 Charcot-Marie-Tooth Disease, Type 2a1 33
435 c CHR528 Charcot-Marie-Tooth Disease, Type 2j 33
436 DQR001 De Quervain Disease 32
437 c CHR407 Charcot-Marie-Tooth Disease, Type 4f 32
438 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 31
439 c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31
440 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
441 c CHR529 Charcot-Marie-Tooth Disease, Type 2i 30
442 c CHR485 Charcot-Marie-Tooth Disease, Type 2r 29
443 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 28
444 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
445 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 25
446 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 25
447 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25
448 c CHR419 Charcot-Marie-Tooth Disease, Recessive Intermediate, B 25
449 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 24
450 c CHR142 Charcot-Marie-Tooth Disease Type 2f 22
451 c CHR424 Charcot-Marie-Tooth Disease, Recessive Intermediate, a 22
452 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
453 c NRP020 Neuropathy, Distal Hereditary Motor, Type Iia 21
454 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
455 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
456 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 18
457 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
458 c CHR551 Charcot-Marie-Tooth Disease Type 2o 16
459 c CHR577 Charcot-Marie-Tooth Disease Type 2t 15
460 c CHR549 Charcot-Marie-Tooth Disease Type 2l 15
461 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
462 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
463 c CHR571 Charcot-Marie-Tooth Disease Type 5 13
464 c CHR550 Charcot-Marie-Tooth Disease Type 2n 13
465 c CHR572 Charcot-Marie-Tooth Disease Type 7 13
466 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
467 c CHR624 Charcot-Marie-Tooth Disease Type 2b5 12
468 c CHR553 Charcot-Marie-Tooth Disease Type 2q 11
469 c ATS362 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2w 11
470 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
471 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
472 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
473 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 8
474 c GLY008 Glycogen Storage Disease Ii 61
475 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
476 P GLY013 Glycogen Storage Disease 59
477 c GLY060 Glycogen Storage Disease Ia 55
478 c GLY007 Glycogen Storage Disease Iv 54
479 c GLY019 Glycogen Storage Disease Iiia 50
480 c GLY005 Glycogen Storage Disease Vi 48
481 c GLY011 Glycogen Storage Disease Vii 47
482 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
483 P INF016 Infantile Epileptic Encephalopathy 44
484 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
485 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
486 c GLY016 Glycogen Storage Disease Ib 39
487 MTR007 Motor Peripheral Neuropathy 37
488 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
489 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
490 c PNT010 Pontocerebellar Hypoplasia Type 1 33
491 c GLY057 Glycogen Storage Disease X 33
492 c GLY023 Glycogen Storage Disease Type 0 33
493 ERL046 Early-Onset Generalized Dystonia 32
494 c GLY044 Glycogen Storage Disease Ixc 31
495 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 30
496 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
497 c GLY042 Glycogen Storage Disease Xi 30
498 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
499 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
500 SLH001 Salih Myopathy 27
501 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
502 c GLY009 Glycogen Storage Disease Xv 26
503 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 26
504 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
505 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
506 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
507 c GLY017 Glycogen Storage Disease Ic 25
508 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
509 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
510 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
511 c GLY059 Glycogen Storage Disease Xiii 24
512 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
513 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
514 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
515 c GLY043 Glycogen Storage Disease Xii 23
516 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
517 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
518 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
519 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
520 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
521 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
522 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
523 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
524 JMP001 Jmp Syndrome 21
525 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
526 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
527 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
528 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
529 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 20
530 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
531 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
532 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
533 c GLY006 Glycogen Storage Disease Viii 20
534 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
535 c CNG129 Congenital Torticollis 20
536 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
537 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
538 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
539 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
540 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
541 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
542 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
543 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
544 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
545 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
546 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
547 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
548 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
549 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
550 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
551 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
552 c GLY093 Glycogen Storage Disease Ixa 14
553 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
554 c GLY001 Glycogen Storage Disease Ix 13
555 KCH001 Kocher-Debre-Semelaigne Syndrome 12
556 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 8
557 c CNG449 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type a 14 8
558 P TRT007 Torticollis, Familial 6
559 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 4
560 UTR002 Uterine Ligament Mucinous Adenocarcinoma 4
561 UTR012 Uterine Ligament Serous Adenocarcinoma 4
562 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 4
563 UTR040 Uterine Ligament Adenocarcinoma 4
564 BSS002 Bassoe Syndrome 4
565 INC002 Inclusion Body Myositis 63
566 P CNG015 Congenital Diaphragmatic Hernia 60
567 P MSC007 Muscle Hypertrophy 56
568 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53
569 P CNT004 Centronuclear Myopathy 52
570 P CNG046 Congenital Fiber-Type Disproportion 49
571 P NML001 Nemaline Myopathy 47
572 P MYT023 Myotonia Congenita 44
573 P MYP087 Myopathy, Tubular Aggregate, 1 43
574 c CHR095 Chronic Progressive External Ophthalmoplegia 43
575 NDL003 Nodular Nonsuppurative Panniculitis 43
576 P RPP002 Rippling Muscle Disease 42
577 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42
578 MYP094 Myopathy, Spheroid Body 39
579 MYP100 Myopathy, X-Linked, with Excessive Autophagy 39
580 PYM001 Pyomyositis 38
581 c ADL027 Adult Dermatomyositis 37
582 c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 36
583 c MYP102 Myopathy, Centronuclear, Autosomal Recessive 34
584 c PRG105 Progressive External Ophthalmoplegia, Autosomal Dominant 1 34
585 RDC010 Reducing Body Myopathy 29
586 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 28
587 NML020 Nemaline Myopathy 5, Amish Type 26
588 c MYT013 Myotonia Congenita, Dominant 25
589 c MYT012 Myotonia Congenita, Recessive 25
590 c MYP088 Myopathy, Tubular Aggregate, 2 22
591 c CNT095 Centronuclear Myopathy 5 21
592 c MYP098 Myopathy, Centronuclear, 4 21
593 c MYP096 Myopathy, Centronuclear, 3 20
594 c DPH016 Diaphragmatic Hernia 3 19
595 c MYS010 Myostatin-Related Muscle Hypertrophy 12
596 CYL003 Cylindrical Spirals Myopathy 9
597 P TTL001 Total Internal Ophthalmoplegia 8
598 c RPP003 Rippling Muscle Disease, 1 7
599 c ACT121 Acta1-Related Congenital Fiber-Type Disproportion 6
600 c TPM005 Tpm3-Related Congenital Fiber-Type Disproportion 6
601 c RYR004 Ryr1-Related Congenital Fiber-Type Disproportion 5
602 c MYH013 Myh7-Related Congenital Fiber-Type Disproportion 4
603 c SLN007 Selenon-Related Congenital Fiber-Type Disproportion 4
604 c TPM007 Tpm2-Related Congenital Fiber-Type Disproportion 4
605 c CV3004 Cav3-Related Rippling Muscle Disease 4
606 c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 4
607 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63
608 P CHR071 Charcot-Marie-Tooth Disease 67
609 MSC077 Muscle Eye Brain Disease 58
610 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 22
611 QZM001 Qazi Markouizos Syndrome 11
612 CNT098 Central Core Disease 66
613 DSM004 Desmoid Tumor 60
614 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 35
615 P HRD161 Hereditary Motor and Sensory Neuropathy Via 33
616 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
617 c HRD138 Hereditary Motor and Sensory Neuropathy V 25
618 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24
619 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 11
620 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
621 P DYS154 Dystonia 61
622 c DYS146 Dystonia 24 46
623 c DYS169 Dystonia-12 43
624 c DYS119 Dystonia 9 35
625 c DYS059 Dystonia 16 33
626 c HRD198 Hereditary Dystonia 30
627 MLN064 Melanoma of Soft Tissue 29
628 c DYS151 Dystonia 25 27
629 c DYS145 Dystonia 23 26
630 c DYS072 Dystonia 7 26
631 P SNG004 Singleton Merten Syndrome 25
632 c DYS162 Dystonia, Juvenile-Onset 25
633 c DYS186 Dystonia 2 24
634 c SNG011 Singleton-Merten Syndrome 1 23
635 NCR015 Necrotizing Autoimmune Myopathy 21
636 c DYS138 Dystonia 21 21
637 c DYS137 Dystonia 4 20
638 c DYS172 Dystonia 27 20
639 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 17
640 c SNG012 Singleton-Merten Syndrome 2 17
641 P TMP003 Temporal Arteritis 61
642 P DRM010 Dermatomyositis 59
643 CHL028 Childhood Type Dermatomyositis 43
644 c JVN019 Juvenile Temporal Arteritis 25
645 NTH002 Nathalie Syndrome 25
646 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 27
647 KRN002 Kearns-Sayre Syndrome 57



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