Muscle Diseases Category (603 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 46
2 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 67
3 SPN402 Spinal Muscular Atrophy, X-Linked 2 34
4 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 35
5 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 56
6 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
7 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57
8 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 26
9 c SPN393 Spinal Muscular Atrophy, Type I 50
10 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 45
11 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 33
12 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
13 P SPN046 Spinal Muscular Atrophy 66
14 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 37
15 P ULL002 Ullrich Congenital Muscular Dystrophy 1 55
16 SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 19
17 OCL008 Oculopharyngeal Muscular Dystrophy 52
18 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 45
19 MSC152 Muscular Dystrophy, Becker Type 61
20 c ATS295 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a 40
21 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 40
22 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 38
23 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 30
24 RGD003 Rigid Spine Muscular Dystrophy 1 55
25 c ATS296 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 39
26 c CNG112 Congenital Muscular Dystrophy Type 1a 35
27 c LM2001 Lama2-Related Muscular Dystrophy 20
28 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
29 c SPN416 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant 27
30 MSC157 Muscular Dystrophy, Duchenne Type 66
31 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
32 MSC012 Muscular Dystrophy, Duchenne and Becker Type 35
33 TBL009 Tibial Muscular Dystrophy 34
34 P LMB006 Limb-Girdle Muscular Dystrophy 55
35 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
36 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 52
37 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 43
38 FKY002 Fukuyama Type Muscular Dystrophy 20
39 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 28
40 P NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 22
41 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 49
42 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 25
43 c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 32
44 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 46
45 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 23
46 P MSC005 Muscular Dystrophy 66
47 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 45
48 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39
49 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 31
50 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 26
51 CST006 Costocoracoid Ligament, Congenitally Short 14
52 P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 37
53 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 28
54 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 22
55 c MYS033 Miyoshi Muscular Dystrophy 1 49
56 c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 41
57 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 23
58 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 31
59 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 25
60 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 20
61 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 39
62 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 29
63 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 24
64 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 31
65 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
66 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
67 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
68 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 22
69 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 22
70 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 20
71 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 39
72 c ATS315 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r 22
73 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 20
74 CRD241 Cardiac Arrhythmia with Increased Serum Creatine Kinase 20
75 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17
76 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 15
77 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 4
78 P BTH005 Bethlem Myopathy 1 56
79 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24
80 c BTH006 Bethlem Myopathy 2 20
81 c PRG001 Progressive Muscular Atrophy 41
82 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 35
83 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 32
84 TBL022 Tibial Muscular Dystrophy, Tardive 30
85 c ATS132 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f 26
86 c ATS133 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 22
87 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 21
88 c LSS005 Lissencephaly 1 53
89 P LSS002 Lissencephaly 49
90 c LSS006 Lissencephaly 2 38
91 c LSS010 Lissencephaly 4 29
92 c LSS025 Lissencephaly 5 25
93 c LSS009 Lissencephaly 3 23
94 c LSS035 Lissencephaly 8 23
95 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 22
96 c MYS014 Miyoshi Muscular Dystrophy 3 33
97 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 32
98 BRW006 Brown Syndrome 27
99 c MSC050 Muscular Dystrophy, Congenital, 1b 51
100 PRX014 Proximal Spinal Muscular Atrophy 46
101 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
102 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 39
103 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 34
104 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 26
105 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 21
106 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
107 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 18
108 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 17
109 RND001 Round Ligament Malignant Neoplasm 10
110 VCL008 Vacuolar Neuromyopathy 22
111 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 20
112 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 18
113 OCL023 Ocular Muscular Dystrophy 14
114 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 11
115 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
116 OPH005 Ophthalmoplegic Muscular Dystrophy 3
117 MSC190 Muscular Disease 51
118 P MYS079 Miyoshi Muscular Dystrophy 46
119 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 35
120 SPN267 Spinal Muscular Atrophy, Jokela Type 25
121 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 23
122 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 21
123 P RPP006 Rippling Muscle Disease 2 37
124 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 36
125 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35
126 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 25
127 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 21
128 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 21
129 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 20
130 c RPP007 Rippling Muscle Disease 1 19
131 c ULL003 Ullrich Congenital Muscular Dystrophy 2 17
132 TND001 Tendon Sheath Lipoma 11
133 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 11
134 UTR041 Uterine Ligament Cancer 10
135 BRD006 Broad Ligament Malignant Neoplasm 9
136 CLL037 Collagen Vi Related Muscular Dystrophy 7
137 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 54
138 TNS001 Tenosynovial Giant Cell Tumor 37
139 WLN001 Welander Distal Myopathy 35
140 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 30
141 c MYP081 Myopathy, Myofibrillar, 6 28
142 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 22
143 BRW002 Brown's Tendon Sheath Syndrome 22
144 ATR076 Atrophic Muscular Disease 22
145 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 14
146 MSC158 Muscular Dystrophy, Scapulohumeral 14
147 CNG440 Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 11
148 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 10
149 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 9
150 HYP235 Hypotonic Sclerotic Muscular Dystrophy 4
151 ART053 Arthrogryposis Spinal Muscular Atrophy 2
152 CNN005 Connective Tissue Disease 64
153 P MSC033 Muscle Disorders 50
154 STP011 Stapes Ankylosis with Broad Thumbs and Toes 48
155 ENT004 Enthesopathy 43
156 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 39
157 TNS014 Tenosynovitis 36
158 ATM005 Autoimmune Disease of Musculoskeletal System 32
159 CML001 Cumulative Trauma Disorders 19
160 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 16
161 c MYS019 Miyoshi Muscular Dystrophy 2 14
162 EMR021 Emery-Dreifuss Syndrome 10
163 SPN387 Spinal Muscular Atrophy, Segmental 10
164 MST003 Masters-Allen Syndrome 9
165 MSC031 Muscular Phosphorylase Kinase Deficiency 6
166 c AN5001 Ano5-Related Muscle Diseases 6
167 UTR013 Uterine Ligament Papillary Cystadenoma 5
168 P CRN015 Cornelia De Lange Syndrome 62
169 P MSC003 Muscular Atrophy 55
170 c CRN139 Cornelia De Lange Syndrome 1 55
171 END021 Endomyocardial Fibrosis 54
172 DYS064 Dystonia 3, Torsion, X-Linked 47
173 BRS064 Bursitis 44
174 PTL003 Patellar Tendinitis 36
175 ERL030 Early-Onset Generalized Limb-Onset Dystonia 33
176 c CRN134 Cornelia De Lange Syndrome 2 28
177 NDL002 Nodular Tenosynovitis 27
178 c CRN215 Cornelia De Lange Syndrome 4 25
179 c CRN209 Cornelia De Lange Syndrome 5 24
180 c CRN135 Cornelia De Lange Syndrome 3 23
181 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 23
182 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 22
183 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 20
184 OVR077 Overuse Syndrome 20
185 PRT108 Puerto Rican Infant Hypotonia Syndrome 20
186 ANT051 Anterior Cruciate Ligament Tears 18
187 RPT005 Repetitive Motion Disorders 18
188 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 15
189 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 14
190 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
191 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 13
192 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 12
193 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
194 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
195 MSC153 Muscular Dystrophy, Cardiac Type 10
196 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 10
197 MSC151 Muscular Hypertonia, Lethal 10
198 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
199 MSC144 Muscular Atrophy, Malignant Neurogenic 9
200 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
201 HYP751 Hypertrophia Musculorum Vera 9
202 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 9
203 MSC145 Muscular Dystrophy, Barnes Type 8
204 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
205 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
206 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
207 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
208 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
209 TBL002 Tibial Collateral Ligament Bursitis 7
210 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
211 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 7
212 MSC155 Muscular Dystrophy, Mabry Type 6
213 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 6
214 RPT006 Repetitive Stress Injuries 5
215 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
216 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
217 FBL001 Fibular Collateral Ligament Bursitis 3
218 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 3
219 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 2
220 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 2
221 P TMP003 Temporal Arteritis 69
222 P MSC007 Muscle Hypertrophy 64
223 P MYP004 Myopathy 63
224 P SCK002 Sick Sinus Syndrome 54
225 ANK001 Ankylosis 53
226 PNN001 Panniculitis 47
227 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 46
228 GSG001 Gas Gangrene 45
229 c MYP072 Myopathy, Myofibrillar, 1 45
230 c NML003 Nemaline Myopathy 2 45
231 P MYG005 Myoglobinuria 45
232 c NML002 Nemaline Myopathy 1 44
233 SNT005 Sinoatrial Node Disease 44
234 TND005 Tendinitis 44
235 P MTC004 Mitochondrial Encephalomyopathy 42
236 c NML005 Nemaline Myopathy 4 42
237 DPH021 Diaphragm Disease 42
238 c NML004 Nemaline Myopathy 3 42
239 PLM030 Pleomorphic Rhabdomyosarcoma 41
240 MYF002 Myofascial Pain Syndrome 41
241 MYS002 Myositis Fibrosa 39
242 ADN075 Adenomyoma 39
243 MYS001 Myositis Ossificans 39
244 CLC004 Calcific Tendinitis 37
245 INT013 Intramuscular Hemangioma 37
246 SMT002 Smooth Muscle Tumor 35
247 CNT009 Central Core Myopathy 34
248 c MYP079 Myopathy, Myofibrillar, 5 33
249 c INF031 Inflammatory Leiomyosarcoma 33
250 DPH006 Diaphragmatic Eventration 31
251 EPT011 Epithelioid Leiomyosarcoma 31
252 MYX006 Myxoid Leiomyosarcoma 31
253 c MYT027 Myotonia Congenita, Autosomal Dominant 30
254 ATY009 Atypical Polypoid Adenomyoma 30
255 c MYP080 Myopathy, Myofibrillar, 4 30
256 c ART104 Arthrogryposis, Distal, Type 5d 29
257 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
258 CNV006 Conventional Leiomyosarcoma 28
259 P SCP010 Scapuloperoneal Myopathy 28
260 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
261 SPN009 Spindle Cell Rhabdomyosarcoma 28
262 MYT003 Myotonic Disease 27
263 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 27
264 c ART122 Arthrogryposis, Distal, Type 8 27
265 MSC004 Muscle Tissue Disease 27
266 GRN036 Granulomatous Myositis 27
267 c MYP148 Myopathy, Centronuclear, 5 27
268 PLM004 Pulmonary Artery Leiomyosarcoma 26
269 c NML022 Nemaline Myopathy 10 25
270 CNG032 Congenital Structural Myopathy 24
271 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
272 MYB001 Myoblastoma 24
273 c ART131 Arthrogryposis, Distal, Type 4 24
274 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
275 c MYP119 Myopathy, Myofibrillar, 7 23
276 c NML007 Nemaline Myopathy 6 23
277 c MYP118 Myopathy, Myofibrillar, 8 23
278 c MYP098 Myopathy, Centronuclear, 4 22
279 c NML010 Nemaline Myopathy 7 22
280 c NML021 Nemaline Myopathy 9 21
281 c MYP088 Myopathy, Tubular Aggregate, 2 21
282 MYP038 Myopathy, Congenital, Compton-North 20
283 c ART102 Arterial Calcification, Generalized, of Infancy, 2 20
284 c ART060 Arthrogryposis, Distal, Type 1b 20
285 c MYP116 Myopathy, Distal, 5 20
286 c MYP095 Myopathy, Distal, 4 20
287 EPD011 Epidemic Pleurodynia 19
288 c MYP112 Myopathy, Distal, 3 19
289 c MYP096 Myopathy, Centronuclear, 3 19
290 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 18
291 c GNR020 Gne-Related Myopathy 18
292 c MYG006 Myoglobinuria, Autosomal Dominant 17
293 c DPH016 Diaphragmatic Hernia 3 17
294 c SCK022 Sick Sinus Syndrome 3 16
295 P MYP124 Myopathy, Distal, Infantile-Onset 15
296 c DPH025 Diaphragmatic Hernia 2 15
297 MYP005 Myopathy of Extraocular Muscle 14
298 c BCT018 Bacterial Myositis 14
299 c CV3001 Cav3-Related Distal Myopathy 13
300 SPR003 Superior Vena Cava Leiomyosarcoma 13
301 BCP001 Bicipital Tenosynovitis 12
302 OVR035 Ovary Leiomyosarcoma 12
303 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 12
304 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 12
305 GLL016 Gallbladder Leiomyosarcoma 11
306 P HRN027 Hernia, Anterior Diaphragmatic 10
307 GLL014 Gallbladder Rhabdomyosarcoma 10
308 GRN012 Granular Cell Leiomyosarcoma 9
309 OVR023 Ovary Rhabdomyosarcoma 9
310 P TTL001 Total Internal Ophthalmoplegia 8
311 MDS008 Mediastinum Rhabdomyosarcoma 7
312 MDS017 Mediastinum Leiomyosarcoma 7
313 ANS009 Anus Leiomyosarcoma 7
314 ANS008 Anus Rhabdomyosarcoma 7
315 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 7
316 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 7
317 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
318 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 5
319 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
320 TNS002 Tenosynovitis of Foot and Ankle 5
321 STR082 Striated Muscle Rhabdoid Tumor 4
322 TBL004 Tibialis Tendinitis 3
323 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 29
324 WLK001 Walker-Warburg Syndrome 60
325 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 56
326 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 24
327 AMY098 Amyotrophy, Monomelic 33
328 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
329 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 33
330 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
331 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
332 c DST030 Distal Hereditary Motor Neuropathy, Type V 21
333 P ACQ022 Acquired Generalized Lipodystrophy 53
334 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
335 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
336 c CNG012 Congenital Generalized Lipodystrophy 48
337 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 45
338 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 45
339 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
340 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
341 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
342 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
343 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
344 FBR011 Fibrodysplasia Ossificans Progressiva 65
345 ADP007 Adie Pupil 43
346 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
347 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
348 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
349 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
350 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 37
351 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 27
352 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24
353 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
354 CRP001 Carpal Tunnel Syndrome 71
355 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 35
356 MDN008 Median Arcuate Ligament Syndrome 34
357 ERL046 Early-Onset Generalized Dystonia 34
358 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
359 MSC026 Muscular Dystrophy White Matter Spongiosis 27
360 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 27
361 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
362 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 21
363 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
364 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 12
365 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 11
366 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
367 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 10
368 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 6
369 c CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 53
370 PST020 Postpoliomyelitis Syndrome 43
371 DQR001 De Quervain Disease 35
372 CNT105 Central Core Disease of Muscle 62
373 PGM001 Pigmented Villonodular Synovitis 54
374 c MYP125 Myopathy, Distal, 1 44
375 ADR023 Adrenomyodystrophy 34
376 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 27
377 SLH001 Salih Myopathy 26
378 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 13
379 UTR040 Uterine Ligament Adenocarcinoma 8
380 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
381 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
382 UTR012 Uterine Ligament Serous Adenocarcinoma 6
383 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
384 c MYT021 Myotonic Dystrophy 1 70
385 INT146 Intervertebral Disc Disease 62
386 P TRT019 Torticollis 48
387 MTR007 Motor Peripheral Neuropathy 38
388 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 28
389 P DST101 Distal Hereditary Motor Neuropathies 27
390 c CNG129 Congenital Torticollis 24
391 KCH001 Kocher-Debre-Semelaigne Syndrome 13
392 JNK001 Jankovic Rivera Syndrome 10
393 c TRT007 Torticollis, Familial 9
394 BSS002 Bassoe Syndrome 7
395 ADD003 Adducted Thumbs Dundar Type 6
396 c SPN225 Spondyloarthropathy 1 75
397 INC002 Inclusion Body Myositis 66
398 P MYS005 Myositis 64
399 P MLG056 Malignant Hyperthermia 62
400 ADN027 Adenomyosis 61
401 SPN027 Spinal Stenosis 61
402 c RHB024 Rhabdomyosarcoma 2 59
403 P RHB003 Rhabdomyosarcoma 57
404 P ATR001 Atrioventricular Septal Defect 56
405 P SPN052 Spondyloarthropathy 56
406 c MYT020 Myotonic Dystrophy 2 55
407 P CNT004 Centronuclear Myopathy 55
408 MYM001 Myoma 55
409 P MTC133 Mitochondrial Myopathy 54
410 MSC072 Muscle Cancer 53
411 P MYP087 Myopathy, Tubular Aggregate, 1 52
412 NDL003 Nodular Nonsuppurative Panniculitis 51
413 P MYT002 Myotonic Dystrophy 51
414 CNG046 Congenital Fiber-Type Disproportion 51
415 c ART120 Arthrogryposis, Distal, Type 3 50
416 c ART144 Arthrogryposis, Distal, Type 1a 49
417 P MYF003 Myofibrillar Myopathy 48
418 P NML001 Nemaline Myopathy 48
419 c MYP123 Myopathy, Centronuclear, 1 43
420 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 43
421 SPS057 Spasticity 42
422 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41
423 P HYP265 Hypotonia 41
424 c MYP131 Myopathy, Centronuclear, 2 40
425 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 40
426 c MYP082 Myopathy, Myofibrillar, 2 39
427 MYP094 Myopathy, Spheroid Body 39
428 SML014 Small Intestine Leiomyosarcoma 39
429 c ADL027 Adult Dermatomyositis 39
430 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
431 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
432 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 37
433 P ART106 Arterial Calcification, Generalized, of Infancy, 1 37
434 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
435 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 36
436 c RHB023 Rhabdomyosarcoma, Embryonal, 1 36
437 c MYP078 Myopathy, Myofibrillar, 3 35
438 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
439 c NML006 Nemaline Myopathy 5 34
440 DYS030 Dysferlinopathy 34
441 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 34
442 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33
443 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33
444 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32
445 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
446 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
447 RDC010 Reducing Body Myopathy 30
448 LNG023 Lung Leiomyosarcoma 29
449 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 29
450 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
451 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 28
452 c SNG011 Singleton-Merten Syndrome 1 27
453 c JVN047 Juvenile Spondyloarthropathy 25
454 c ART112 Arthrogryposis, Distal, Type 10 25
455 c JVN019 Juvenile Temporal Arteritis 24
456 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 23
457 c NML025 Nemaline Myopathy 8 23
458 c MLG148 Malignant Hyperthermia 2 23
459 c SCK017 Sick Sinus Syndrome 1 23
460 c MLG149 Malignant Hyperthermia 3 23
461 c SCK014 Sick Sinus Syndrome 2 22
462 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 22
463 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 22
464 c MLG150 Malignant Hyperthermia 4 22
465 c ART128 Arthrogryposis, Distal, Type 6 21
466 c MLG151 Malignant Hyperthermia 5 21
467 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 20
468 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 20
469 c INF065 Infantile Hypotonia 19
470 PLM104 Palmoplantar Keratoderma, Nagashima Type 19
471 c ART054 Arthrogryposis, Distal, Type 2e 18
472 c ATR047 Atrioventricular Septal Defect 2 18
473 c ATR064 Atrioventricular Septal Defect 3 18
474 c MLG152 Malignant Hyperthermia 6 17
475 c ATR067 Atrioventricular Septal Defect 4 17
476 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
477 c ATR071 Atrioventricular Septal Defect 5 16
478 c SPN226 Spondyloarthropathy 2 15
479 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 15
480 c MYS010 Myostatin-Related Muscle Hypertrophy 14
481 CLN012 Colon Leiomyosarcoma 14
482 c VRL025 Viral Myositis 13
483 PLM003 Pulmonary Vein Leiomyosarcoma 12
484 LRY014 Larynx Leiomyosarcoma 12
485 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 11
486 TRC088 Trochleitis 11
487 c SPN256 Spondyloarthropathy 3 11
488 BLD037 Bile Duct Rhabdomyosarcoma 11
489 CNT030 Central Nervous System Leiomyosarcoma 10
490 FLP002 Floppy Infant Syndrome 10
491 BNL001 Bone Leiomyosarcoma 10
492 CYL003 Cylindrical Spirals Myopathy 8
493 P VGN013 Vagina Botryoid Rhabdomyosarcoma 8
494 CNT021 Central Nervous System Rhabdomyosarcoma 7
495 FLL007 Fallopian Tube Leiomyosarcoma 7
496 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 6
497 MXD015 Mixed Type Rhabdomyosarcoma 5
498 c MYG002 Myoglobinuria Dominant Form 5
499 MSC077 Muscle Eye Brain Disease 45
500 P CHR071 Charcot-Marie-Tooth Disease 62
501 DSM004 Desmoid Tumor 63
502 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 27
503 P DYS154 Dystonia 65
504 c DYS056 Dystonia 12 54
505 c DYS119 Dystonia 9 45
506 c DYS151 Dystonia 25 23
507 QZM001 Qazi Markouizos Syndrome 15
508 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 42
509 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 32
510 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 26
511 MNK001 Menkes Disease 64
512 P SNG014 Singleton-Merten Syndrome 31
513 ZTT001 Zttk Syndrome 26
514 NCR015 Necrotizing Autoimmune Myopathy 24
515 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
516 MLN064 Melanoma of Soft Tissue 28
517 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 23
518 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
519 CHL028 Childhood Type Dermatomyositis 59
520 P DST002 Distal Arthrogryposis 59
521 P LMY004 Leiomyosarcoma 58
522 MBS002 Moebius Syndrome 57
523 P CMR001 Camurati-Engelmann Disease 56
524 ALV005 Alveolar Soft Part Sarcoma 55
525 c ART119 Arthrogryposis, Distal, Type 5 54
526 CRT033 Corticobasal Degeneration 54
527 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52
528 PSD012 Pseudoachondroplasia 51
529 P CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 51
530 P MYT023 Myotonia Congenita 48
531 c CHR095 Chronic Progressive External Ophthalmoplegia 47
532 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
533 P DMY001 Demyelinating Polyneuropathy 46
534 c ART061 Arthrogryposis, Distal, Type 2a 46
535 MYP100 Myopathy, X-Linked, with Excessive Autophagy 46
536 PYM001 Pyomyositis 45
537 BRD001 Brody Myopathy 43
538 c MLG147 Malignant Hyperthermia 1 40
539 c MYG007 Myoglobinuria, Recurrent 39
540 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 38
541 SKL003 Skeletal Muscle Cancer 37
542 c PRK085 Parkinson Disease 1, Autosomal Dominant 35
543 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 35
544 c ART147 Arthrogryposis, Distal, Type 7 33
545 VRT007 Vertical Talus, Congenital 31
546 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 31
547 HYD030 Hydroxykynureninuria 27
548 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 27
549 c FML272 Familial Sick Sinus Syndrome 27
550 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
551 WND002 Wandering Spleen 24
552 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 24
553 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 24
554 c CMR006 Camurati-Engelmann Disease, Type 2 24
555 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 19
556 CHL030 Childhood Botryoid Rhabdomyosarcoma 10
557 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 8
558 c BNG038 Benign Autosomal Dominant Myopathy 6
559 PRN038 Prune Belly Syndrome 49
560 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 30
561 P HYP607 Hypercholesterolemia, Familial 81
562 P DRM010 Dermatomyositis 66
563 c DPH024 Diaphragmatic Hernia, Congenital 65
564 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
565 CYS005 Cysticercosis 58
566 c LPD015 Lipodystrophy, Familial Partial, Type 2 56
567 P EMR001 Emery-Dreifuss Muscular Dystrophy 55
568 c MYP132 Myopathy, Congenital 54
569 P EMB005 Embryonal Rhabdomyosarcoma 53
570 P FML012 Familial Partial Lipodystrophy 52
571 P CNT056 Cantu Syndrome 51
572 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
573 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
574 c MYT029 Myotonia Congenita, Autosomal Recessive 44
575 c LPD040 Lipodystrophy, Familial Partial, Type 1 44
576 c HYP396 Hypercholesterolemia, Autosomal Recessive 43
577 c MYF007 Myofibromatosis, Infantile, 1 43
578 NRL004 Neuroleptic Malignant Syndrome 43
579 c LPD019 Lipodystrophy, Partial, Acquired 42
580 c ART146 Arthrogryposis, Distal, Type 9 42
581 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 41
582 TXC011 Toxocariasis 39
583 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
584 P BTR001 Botryoid Rhabdomyosarcoma 35
585 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 32
586 c LPD036 Lipodystrophy, Familial Partial, Type 6 26
587 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
588 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
589 c MYF010 Myofibromatosis, Infantile, 2 17
590 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 8
591 c CNT094 Cantú Syndrome and Related Disorders 6
592 KRN002 Kearns-Sayre Syndrome 61
593 c SVR040 Severe Congenital Nemaline Myopathy 36
594 c INT274 Intermediate Congenital Nemaline Myopathy 32
595 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 27
596 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 23
597 c ADL068 Adult-Onset Nemaline Myopathy 23
598 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 18
599 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 18
600 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
601 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 26
602 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
603 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24



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