Muscle Diseases Category (622 diseases)


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

# Family MCID Name MIFTS
1 c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 63
2 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 41
3 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 56
4 c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 53
5 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 59
6 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
7 c SPN393 Spinal Muscular Atrophy, Type I 50
8 c SPN395 Spinal Muscular Atrophy, Type Ii 45
9 c SPN398 Spinal Muscular Atrophy, Type Iv 36
10 c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 47
11 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57
12 P SPN046 Spinal Muscular Atrophy 63
13 MSC152 Muscular Dystrophy, Becker Type 64
14 P EMR001 Emery-Dreifuss Muscular Dystrophy 53
15 c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 40
16 c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 59
17 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29
18 MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59
19 OCL008 Oculopharyngeal Muscular Dystrophy 49
20 c JVN006 Juvenile Spinal Muscular Atrophy 35
21 c CNG112 Congenital Muscular Dystrophy Type 1a 31
22 LM2001 Lama2-Related Muscular Dystrophy 15
23 P ULL002 Ullrich Congenital Muscular Dystrophy 1 52
24 c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 40
25 c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 43
26 RGD003 Rigid Spine Muscular Dystrophy 1 59
27 SPN402 Spinal Muscular Atrophy, X-Linked 2 32
28 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52
29 c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 41
30 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 36
31 c SPN416 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant 24
32 MSC157 Muscular Dystrophy, Duchenne Type 74
33 P LMB006 Limb-Girdle Muscular Dystrophy 55
34 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 26
35 TBL009 Tibial Muscular Dystrophy 18
36 c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 37
37 FKY002 Fukuyama Type Muscular Dystrophy 19
38 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 51
39 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
40 c SPN394 Spinal Muscular Atrophy, Type Iii 45
41 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 35
42 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
43 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
44 c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 44
45 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 23
46 MSC012 Muscular Dystrophy, Duchenne and Becker Type 35
47 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36
48 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 30
49 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26
50 c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 22
51 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
52 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 21
53 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 14
54 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 10
55 c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 37
56 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
57 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 43
58 CST006 Costocoracoid Ligament, Congenitally Short 14
59 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43
60 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 40
61 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 24
62 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 41
63 P MSC005 Muscular Dystrophy 66
64 P MYS033 Miyoshi Muscular Dystrophy 1 48
65 c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 34
66 c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 31
67 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 22
68 c MSC161 Muscular Dystrophy, Limb-Girdle, Type 1c 36
69 P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 29
70 c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 28
71 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 25
72 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 25
73 c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39
74 c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36
75 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 31
76 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
77 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
78 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
79 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 21
80 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
81 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 19
82 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 25
83 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 13
84 c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 29
85 c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 22
86 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 4
87 c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 29
88 c LMB047 Limb-Girdle Muscular Dystrophy, Type 1g 26
89 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
90 c PRG001 Progressive Muscular Atrophy 41
91 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33
92 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 32
93 TBL022 Tibial Muscular Dystrophy, Tardive 23
94 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
95 c ATS133 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 22
96 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 20
97 P LSS002 Lissencephaly 49
98 c LSS005 Lissencephaly 1 46
99 c LSS006 Lissencephaly 2 31
100 c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 31
101 c LSS010 Lissencephaly 4 31
102 c LSS025 Lissencephaly 5 24
103 c LSS009 Lissencephaly 3 22
104 c LSS035 Lissencephaly 8 21
105 BRW006 Brown Syndrome 28
106 c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 19
107 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 18
108 c MSC050 Muscular Dystrophy, Congenital, 1b 45
109 PRX014 Proximal Spinal Muscular Atrophy 42
110 DST004 Distal Muscular Dystrophy 38
111 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38
112 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 31
113 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 20
114 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 19
115 VCL008 Vacuolar Neuromyopathy 22
116 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 21
117 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 19
118 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 18
119 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
120 OCL023 Ocular Muscular Dystrophy 13
121 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 12
122 RND001 Round Ligament Malignant Neoplasm 8
123 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
124 OPH005 Ophthalmoplegic Muscular Dystrophy 3
125 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
126 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
127 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 19
128 P MYP004 Myopathy 69
129 c MYP132 Myopathy, Congenital 51
130 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35
131 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 24
132 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 23
133 c MYS014 Miyoshi Muscular Dystrophy 3 21
134 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 15
135 c GNR020 Gne-Related Myopathy 14
136 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
137 c BNG038 Benign Autosomal Dominant Myopathy 8
138 CLL037 Collagen Vi Related Muscular Dystrophy 7
139 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 53
140 P MYF003 Myofibrillar Myopathy 44
141 TNS001 Tenosynovial Giant Cell Tumor 38
142 c MYP082 Myopathy, Myofibrillar, 2 38
143 c MYP078 Myopathy, Myofibrillar, 3 36
144 c MYP079 Myopathy, Myofibrillar, 5 34
145 WLN001 Welander Distal Myopathy 30
146 c MYP080 Myopathy, Myofibrillar, 4 30
147 c DYS067 Dystonia 6, Torsion 28
148 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 26
149 P DYS068 Dystonia 7, Torsion 26
150 c MYP081 Myopathy, Myofibrillar, 6 26
151 P DST101 Distal Hereditary Motor Neuropathies 24
152 MSC026 Muscular Dystrophy White Matter Spongiosis 23
153 c MYP119 Myopathy, Myofibrillar, 7 23
154 c MYP118 Myopathy, Myofibrillar, 8 22
155 BRW002 Brown's Tendon Sheath Syndrome 19
156 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 18
157 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 16
158 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 14
159 c TRS005 Torsion Dystonia with Onset in Infancy 14
160 c TRS025 Torsion Dystonia 2 11
161 MSC158 Muscular Dystrophy, Scapulohumeral 11
162 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 10
163 c TRS027 Torsion Dystonia 4 9
164 TND001 Tendon Sheath Lipoma 8
165 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 8
166 BRD006 Broad Ligament Malignant Neoplasm 8
167 c TRS028 Torsion Dystonia 17 7
168 CNG440 Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 7
169 ATR076 Atrophic Muscular Disease 6
170 UTR041 Uterine Ligament Cancer 5
171 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
172 HYP235 Hypotonic Sclerotic Muscular Dystrophy 4
173 ART053 Arthrogryposis Spinal Muscular Atrophy 2
174 P PNT019 Pontocerebellar Hypoplasia 41
175 c PNT034 Pontocerebellar Hypoplasia, Type 2e 41
176 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
177 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
178 c PNT049 Pontocerebellar Hypoplasia, Type 2d 35
179 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
180 c PNT045 Pontocerebellar Hypoplasia, Type 1a 31
181 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
182 c PNT043 Pontocerebellar Hypoplasia, Type 4 29
183 c PNT044 Pontocerebellar Hypoplasia, Type 2a 28
184 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
185 c PNT032 Pontocerebellar Hypoplasia, Type 9 27
186 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
187 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
188 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
189 c PNT050 Pontocerebellar Hypoplasia, Type 11 22
190 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
191 c PNT048 Pontocerebellar Hypoplasia, Type 2c 21
192 SPN267 Spinal Muscular Atrophy, Jokela Type 19
193 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 18
194 MSC033 Muscle Disorders 53
195 TNS014 Tenosynovitis 35
196 SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 19
197 MSC168 Musculoskeletal System Benign Neoplasm 16
198 c ULL003 Ullrich Congenital Muscular Dystrophy 2 16
199 SPN387 Spinal Muscular Atrophy, Segmental 8
200 MSC031 Muscular Phosphorylase Kinase Deficiency 7
201 ATM005 Autoimmune Disease of Musculoskeletal System 4
202 P CRN015 Cornelia De Lange Syndrome 65
203 P DST002 Distal Arthrogryposis 57
204 P MSC003 Muscular Atrophy 55
205 P CNG411 Congenital Disorder of Glycosylation, Type in 55
206 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
207 END021 Endomyocardial Fibrosis 51
208 c ART119 Arthrogryposis, Distal, Type 5 49
209 c ART120 Arthrogryposis, Distal, Type 3 47
210 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
211 c ART144 Arthrogryposis, Distal, Type 1a 46
212 c CRN139 Cornelia De Lange Syndrome 1 46
213 c ART061 Arthrogryposis, Distal, Type 2a 45
214 P MYT023 Myotonia Congenita 44
215 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
216 c ART146 Arthrogryposis, Distal, Type 9 41
217 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
218 DYS064 Dystonia 3, Torsion, X-Linked 39
219 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
220 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
221 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
222 c CNG379 Congenital Disorder of Glycosylation, Type It 34
223 c MYT027 Myotonia Congenita, Autosomal Dominant 34
224 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
225 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
226 c MYT029 Myotonia Congenita, Autosomal Recessive 32
227 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
228 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
229 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
230 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
231 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
232 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
233 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
234 c CNG188 Congenital Disorder of Glycosylation, Type if 29
235 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
236 P MSC002 Muscular Dystrophy-Dystroglycanopathy 28
237 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
238 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
239 c ART104 Arthrogryposis, Distal, Type 5d 28
240 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
241 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
242 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
243 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
244 c CRN134 Cornelia De Lange Syndrome 2 27
245 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
246 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
247 c ART112 Arthrogryposis, Distal, Type 10 26
248 ERL030 Early-Onset Generalized Limb-Onset Dystonia 26
249 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
250 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
251 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
252 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
253 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
254 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
255 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
256 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
257 c ART122 Arthrogryposis, Distal, Type 8 24
258 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
259 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
260 c ART128 Arthrogryposis, Distal, Type 6 23
261 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
262 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
263 c CRN209 Cornelia De Lange Syndrome 5 23
264 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
265 PTL003 Patellar Tendinitis 22
266 c ART131 Arthrogryposis, Distal, Type 4 22
267 c CRN215 Cornelia De Lange Syndrome 4 22
268 ANT051 Anterior Cruciate Ligament Tears 21
269 c CRN135 Cornelia De Lange Syndrome 3 21
270 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20
271 c ART060 Arthrogryposis, Distal, Type 1b 20
272 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
273 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 19
274 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 19
275 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
276 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 18
277 c ART054 Arthrogryposis, Distal, Type 2e 16
278 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 15
279 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 12
280 c MYS019 Miyoshi Muscular Dystrophy 2 12
281 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
282 c DST092 Distal Hereditary Motor Neuropathy Type 7 11
283 MSC151 Muscular Hypertonia, Lethal 10
284 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
285 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 10
286 MSC153 Muscular Dystrophy, Cardiac Type 10
287 HYP751 Hypertrophia Musculorum Vera 10
288 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 10
289 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
290 MSC144 Muscular Atrophy, Malignant Neurogenic 10
291 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
292 EMR021 Emery-Dreifuss Syndrome 9
293 MSC145 Muscular Dystrophy, Barnes Type 8
294 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
295 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
296 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 8
297 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
298 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
299 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
300 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
301 MST003 Masters-Allen Syndrome 7
302 TBL002 Tibial Collateral Ligament Bursitis 7
303 MSC155 Muscular Dystrophy, Mabry Type 7
304 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 6
305 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
306 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
307 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 5
308 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
309 UTR013 Uterine Ligament Papillary Cystadenoma 4
310 BRN136 Brain Malformation-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome 4
311 FBL001 Fibular Collateral Ligament Bursitis 4
312 ERL054 Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome 3
313 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 2
314 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 2
315 P MTC133 Mitochondrial Myopathy 53
316 PNN001 Panniculitis 48
317 MYF002 Myofascial Pain Syndrome 44
318 MTC004 Mitochondrial Encephalomyopathy 42
319 TND005 Tendinitis 42
320 MSC004 Muscle Tissue Disease 39
321 DPH021 Diaphragm Disease 39
322 CLC004 Calcific Tendinitis 38
323 P MYG005 Myoglobinuria 37
324 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
325 MYS002 Myositis Fibrosa 35
326 c NML004 Nemaline Myopathy 3 34
327 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 33
328 MYS001 Myositis Ossificans 33
329 c MYG007 Myoglobinuria, Recurrent 32
330 c NML002 Nemaline Myopathy 1 32
331 c NML005 Nemaline Myopathy 4 32
332 CNT009 Central Core Myopathy 31
333 DPH006 Diaphragmatic Eventration 29
334 c NML003 Nemaline Myopathy 2 29
335 MYT003 Myotonic Disease 27
336 CNG032 Congenital Structural Myopathy 27
337 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26
338 GRN036 Granulomatous Myositis 25
339 c SVR040 Severe Congenital Nemaline Myopathy 24
340 c MTC116 Mitochondrial Myopathy, Infantile, Transient 23
341 c NML007 Nemaline Myopathy 6 22
342 c INT274 Intermediate Congenital Nemaline Myopathy 21
343 c NML010 Nemaline Myopathy 7 21
344 c NML022 Nemaline Myopathy 10 21
345 c NML024 Nemaline Myopathy 11, Autosomal Recessive 21
346 c NML025 Nemaline Myopathy 8 21
347 SCP010 Scapuloperoneal Myopathy 20
348 MYP038 Myopathy, Congenital, Compton-North 20
349 c NML021 Nemaline Myopathy 9 20
350 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 19
351 c ADL068 Adult-Onset Nemaline Myopathy 17
352 c MYG006 Myoglobinuria, Autosomal Dominant 14
353 BCP001 Bicipital Tenosynovitis 14
354 MYP005 Myopathy of Extraocular Muscle 13
355 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 11
356 TNS002 Tenosynovitis of Foot and Ankle 5
357 c MYG002 Myoglobinuria Dominant Form 3
358 TBL004 Tibialis Tendinitis 3
359 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 29
360 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 28
361 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53
362 WLK001 Walker-Warburg Syndrome 59
363 SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 23
364 AMY098 Amyotrophy, Monomelic 35
365 c MYP072 Myopathy, Myofibrillar, 1 44
366 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
367 SCP012 Scapuloperoneal Myopathy, Myh7-Related 24
368 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
369 c DST030 Distal Hereditary Motor Neuropathy, Type V 21
370 c CNG012 Congenital Generalized Lipodystrophy 51
371 P ACQ022 Acquired Generalized Lipodystrophy 45
372 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 36
373 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 34
374 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32
375 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
376 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
377 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
378 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
379 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
380 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 25
381 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
382 ADP007 Adie Pupil 41
383 SCP002 Scapuloperoneal Spinal Muscular Atrophy 28
384 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
385 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
386 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
387 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26
388 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
389 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
390 DSM004 Desmoid Tumor 63
391 P BTH005 Bethlem Myopathy 1 52
392 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 32
393 P NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 26
394 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
395 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
396 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
397 c BTH006 Bethlem Myopathy 2 17
398 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 45
399 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
400 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 38
401 c ART147 Arthrogryposis, Distal, Type 7 35
402 P XLN110 X-Linked Charcot-Marie-Tooth Disease 34
403 ERL046 Early-Onset Generalized Dystonia 31
404 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
405 MDN008 Median Arcuate Ligament Syndrome 28
406 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
407 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 25
408 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 24
409 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
410 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 21
411 PST020 Postpoliomyelitis Syndrome 39
412 MNK001 Menkes Disease 64
413 CNT105 Central Core Disease of Muscle 57
414 PGM001 Pigmented Villonodular Synovitis 54
415 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 53
416 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 47
417 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 40
418 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 36
419 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 34
420 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 34
421 DQR001 De Quervain Disease 33
422 ADR023 Adrenomyodystrophy 33
423 SLH001 Salih Myopathy 26
424 HRD038 Harding Ataxia 9
425 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
426 c GLY008 Glycogen Storage Disease Ii 64
427 P GLY013 Glycogen Storage Disease 61
428 c GLY060 Glycogen Storage Disease Ia 57
429 c GLY003 Glycogen Storage Disease Iii 56
430 c GLY004 Glycogen Storage Disease V 55
431 c GLY005 Glycogen Storage Disease Vi 51
432 c GLY007 Glycogen Storage Disease Iv 51
433 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
434 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
435 c GLY011 Glycogen Storage Disease Vii 48
436 P TRT019 Torticollis 45
437 P INF016 Infantile Epileptic Encephalopathy 43
438 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
439 c GLY098 Glycogen Storage Disease, Type Ixd 40
440 MTR007 Motor Peripheral Neuropathy 39
441 c GLY016 Glycogen Storage Disease Ib 36
442 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
443 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
444 c PNT010 Pontocerebellar Hypoplasia Type 1 35
445 c GLY023 Glycogen Storage Disease Type 0 34
446 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
447 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
448 c GLY044 Glycogen Storage Disease Ixc 30
449 c GLY057 Glycogen Storage Disease X 30
450 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
451 c GLY017 Glycogen Storage Disease Ic 28
452 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 27
453 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
454 c GLY097 Glycogen Storage Disease Ixb 27
455 c GLY043 Glycogen Storage Disease Xii 27
456 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
457 c GLY009 Glycogen Storage Disease Xv 26
458 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
459 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
460 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
461 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
462 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
463 c GLY059 Glycogen Storage Disease Xiii 22
464 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
465 c CNG129 Congenital Torticollis 22
466 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
467 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
468 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
469 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
470 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
471 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
472 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
473 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
474 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
475 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
476 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
477 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
478 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
479 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
480 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
481 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
482 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
483 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
484 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
485 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
486 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
487 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
488 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
489 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
490 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
491 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
492 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
493 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
494 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
495 c GLY006 Glycogen Storage Disease Viii 19
496 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
497 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
498 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
499 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
500 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
501 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
502 c GLY093 Glycogen Storage Disease Ixa 17
503 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
504 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
505 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
506 KCH001 Kocher-Debre-Semelaigne Syndrome 13
507 c GLY001 Glycogen Storage Disease Ix 12
508 JNK001 Jankovic Rivera Syndrome 10
509 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 9
510 c TRT007 Torticollis, Familial 9
511 ADD003 Adducted Thumbs Dundar Type 7
512 BSS002 Bassoe Syndrome 5
513 UTR040 Uterine Ligament Adenocarcinoma 4
514 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 4
515 UTR012 Uterine Ligament Serous Adenocarcinoma 4
516 UTR002 Uterine Ligament Mucinous Adenocarcinoma 4
517 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 4
518 c MYT021 Myotonic Dystrophy 1 68
519 INC002 Inclusion Body Myositis 64
520 c DPH024 Diaphragmatic Hernia, Congenital 63
521 P MYS005 Myositis 63
522 c MYT020 Myotonic Dystrophy 2 56
523 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55
524 P CNT004 Centronuclear Myopathy 54
525 P MYT002 Myotonic Dystrophy 50
526 P MYP087 Myopathy, Tubular Aggregate, 1 48
527 CNG046 Congenital Fiber-Type Disproportion 48
528 P NML001 Nemaline Myopathy 47
529 NDL003 Nodular Nonsuppurative Panniculitis 47
530 MYP100 Myopathy, X-Linked, with Excessive Autophagy 44
531 c CHR095 Chronic Progressive External Ophthalmoplegia 44
532 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44
533 PYM001 Pyomyositis 42
534 P RPP006 Rippling Muscle Disease 2 42
535 c ADL027 Adult Dermatomyositis 41
536 MYP094 Myopathy, Spheroid Body 40
537 c MYP123 Myopathy, Centronuclear, 1 39
538 c MYP131 Myopathy, Centronuclear, 2 35
539 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
540 RDC010 Reducing Body Myopathy 28
541 c NML006 Nemaline Myopathy 5 26
542 c MYP088 Myopathy, Tubular Aggregate, 2 21
543 c MYP148 Myopathy, Centronuclear, 5 20
544 c MYP098 Myopathy, Centronuclear, 4 18
545 c MYP096 Myopathy, Centronuclear, 3 17
546 c RPP007 Rippling Muscle Disease 1 16
547 c DPH025 Diaphragmatic Hernia 2 14
548 c VRL025 Viral Myositis 13
549 c BCT018 Bacterial Myositis 13
550 c DPH016 Diaphragmatic Hernia 3 12
551 MYS010 Myostatin-Related Muscle Hypertrophy 10
552 P HRN027 Hernia, Anterior Diaphragmatic 10
553 P TTL001 Total Internal Ophthalmoplegia 8
554 CYL003 Cylindrical Spirals Myopathy 7
555 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 70
556 P CHR071 Charcot-Marie-Tooth Disease 67
557 MSC077 Muscle Eye Brain Disease 51
558 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 42
559 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
560 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39
561 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 39
562 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
563 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
564 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
565 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
566 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
567 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
568 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
569 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
570 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
571 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 24
572 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
573 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
574 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 22
575 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 21
576 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 21
577 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
578 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
579 c CHR549 Charcot-Marie-Tooth Disease Type 2l 17
580 c CHR143 Charcot-Marie-Tooth Disease Type 2g 16
581 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
582 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 15
583 c CHR550 Charcot-Marie-Tooth Disease Type 2n 14
584 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
585 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
586 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
587 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
588 c CHR551 Charcot-Marie-Tooth Disease Type 2o 12
589 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
590 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
591 c CHR571 Charcot-Marie-Tooth Disease Type 5 10
592 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
593 c CHR572 Charcot-Marie-Tooth Disease Type 7 9
594 P DYS154 Dystonia 61
595 c DYS056 Dystonia 12 51
596 c DYS146 Dystonia 24 40
597 c DYS119 Dystonia 9 32
598 c HRD198 Hereditary Dystonia 28
599 c DYS162 Dystonia, Juvenile-Onset 27
600 c DYS059 Dystonia 16 25
601 c DYS145 Dystonia 23 22
602 c DYS151 Dystonia 25 21
603 c DYS172 Dystonia 27 21
604 c DYS138 Dystonia 21 20
605 QZM001 Qazi Markouizos Syndrome 13
606 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 40
607 c NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 32
608 P SNG014 Singleton-Merten Syndrome 30
609 P HRD138 Hereditary Motor and Sensory Neuropathy V 27
610 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 24
611 c SNG011 Singleton-Merten Syndrome 1 23
612 c SNG012 Singleton-Merten Syndrome 2 17
613 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
614 NCR015 Necrotizing Autoimmune Myopathy 21
615 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
616 MLN064 Melanoma of Soft Tissue 21
617 P TMP003 Temporal Arteritis 67
618 P DRM010 Dermatomyositis 65
619 CHL028 Childhood Type Dermatomyositis 55
620 c JVN019 Juvenile Temporal Arteritis 23
621 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 28
622 KRN002 Kearns-Sayre Syndrome 59



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