Muscle Diseases Category (856 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 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 48
4 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39
5 SPN402 Spinal Muscular Atrophy, X-Linked 2 32
6 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 62
7 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 27
8 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 51
9 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
10 c SPN393 Spinal Muscular Atrophy, Type I 53
11 c SPN395 Spinal Muscular Atrophy, Type Ii 46
12 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
13 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
14 P SPN046 Spinal Muscular Atrophy 65
15 c SPN398 Spinal Muscular Atrophy, Type Iv 36
16 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 36
17 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
18 P ULL002 Ullrich Congenital Muscular Dystrophy 1 60
19 OCL008 Oculopharyngeal Muscular Dystrophy 52
20 SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 18
21 P EMR001 Emery-Dreifuss Muscular Dystrophy 56
22 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 44
23 MSC152 Muscular Dystrophy, Becker Type 63
24 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 40
25 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 40
26 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29
27 c CNG112 Congenital Muscular Dystrophy Type 1a 38
28 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 35
29 c RGD003 Rigid Spine Muscular Dystrophy 1 64
30 c JVN006 Juvenile Spinal Muscular Atrophy 40
31 c LM2001 Lama2-Related Muscular Dystrophy 22
32 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
33 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
34 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 33
35 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
36 MSC157 Muscular Dystrophy, Duchenne Type 66
37 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 44
38 P MYF003 Myofibrillar Myopathy 47
39 c MYP078 Myopathy, Myofibrillar, 3 46
40 c MYP072 Myopathy, Myofibrillar, 1 46
41 c MYP082 Myopathy, Myofibrillar, 2 39
42 c MYP079 Myopathy, Myofibrillar, 5 33
43 c MYP080 Myopathy, Myofibrillar, 4 30
44 c MYP119 Myopathy, Myofibrillar, 7 24
45 c MYP118 Myopathy, Myofibrillar, 8 22
46 P RGD004 Rigid Spine Muscular Dystrophy 19
47 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38
48 TBL009 Tibial Muscular Dystrophy 32
49 P LMB006 Limb-Girdle Muscular Dystrophy 54
50 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
51 c SPN394 Spinal Muscular Atrophy, Type Iii 47
52 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 29
53 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 43
54 MSC012 Muscular Dystrophy, Duchenne and Becker Type 37
55 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 29
56 FKY002 Fukuyama Type Muscular Dystrophy 20
57 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 12
58 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 36
59 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 30
60 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 31
61 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 25
62 P NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 22
63 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
64 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 21
65 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 13
66 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 25
67 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 49
68 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 23
69 P MSC005 Muscular Dystrophy 66
70 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 38
71 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 38
72 c MYS033 Miyoshi Muscular Dystrophy 1 50
73 P RPP006 Rippling Muscle Disease 2 45
74 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 29
75 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 26
76 c RPP007 Rippling Muscle Disease 1 19
77 CST006 Costocoracoid Ligament, Congenitally Short 14
78 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 27
79 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 23
80 c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 42
81 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 23
82 P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 37
83 CRD241 Cardiac Arrhythmia with Increased Serum Creatine Kinase 25
84 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
85 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 20
86 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 20
87 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 18
88 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 29
89 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 24
90 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 29
91 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 22
92 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 22
93 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 31
94 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
95 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
96 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 24
97 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
98 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 21
99 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
100 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 19
101 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 41
102 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 39
103 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 19
104 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17
105 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 16
106 P BTH005 Bethlem Myopathy 1 54
107 c BTH006 Bethlem Myopathy 2 21
108 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 15
109 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 4
110 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
111 c PRG001 Progressive Muscular Atrophy 42
112 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 35
113 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 33
114 TBL022 Tibial Muscular Dystrophy, Tardive 28
115 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
116 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 21
117 c LSS005 Lissencephaly 1 52
118 P LSS002 Lissencephaly 49
119 c LSS006 Lissencephaly 2 37
120 c LSS010 Lissencephaly 4 29
121 c LSS025 Lissencephaly 5 24
122 c LSS035 Lissencephaly 8 22
123 c LSS009 Lissencephaly 3 22
124 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 22
125 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 21
126 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 14
127 P MYS079 Miyoshi Muscular Dystrophy 48
128 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 32
129 c MYS014 Miyoshi Muscular Dystrophy 3 31
130 BRW006 Brown Syndrome 29
131 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 20
132 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 17
133 PRX014 Proximal Spinal Muscular Atrophy 49
134 c MSC050 Muscular Dystrophy, Congenital, 1b 48
135 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38
136 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 36
137 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 35
138 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 29
139 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 26
140 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 22
141 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
142 RND001 Round Ligament Malignant Neoplasm 10
143 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 55
144 c DYS067 Dystonia 6, Torsion 34
145 P DYS068 Dystonia 7, Torsion 23
146 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 22
147 VCL008 Vacuolar Neuromyopathy 21
148 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 19
149 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
150 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 17
151 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 16
152 OCL023 Ocular Muscular Dystrophy 16
153 c TRS005 Torsion Dystonia with Onset in Infancy 14
154 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 11
155 c TRS025 Torsion Dystonia 2 11
156 c TRS027 Torsion Dystonia 4 9
157 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
158 c TRS028 Torsion Dystonia 17 7
159 OPH005 Ophthalmoplegic Muscular Dystrophy 3
160 MSC190 Muscular Disease 55
161 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 33
162 SPN267 Spinal Muscular Atrophy, Jokela Type 25
163 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 21
164 P MSC002 Muscular Dystrophy-Dystroglycanopathy 34
165 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 33
166 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 32
167 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 26
168 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 26
169 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 20
170 c ULL003 Ullrich Congenital Muscular Dystrophy 2 18
171 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 16
172 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 13
173 TND001 Tendon Sheath Lipoma 11
174 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 11
175 UTR041 Uterine Ligament Cancer 10
176 BRD006 Broad Ligament Malignant Neoplasm 9
177 CLL037 Collagen Vi Related Muscular Dystrophy 7
178 TNS001 Tenosynovial Giant Cell Tumor 39
179 WLN001 Welander Distal Myopathy 34
180 ATR076 Atrophic Muscular Disease 34
181 c MYP081 Myopathy, Myofibrillar, 6 29
182 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 27
183 BRW002 Brown's Tendon Sheath Syndrome 23
184 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 23
185 CNG440 Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 17
186 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 14
187 MSC158 Muscular Dystrophy, Scapulohumeral 13
188 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 10
189 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 9
190 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
191 HYP235 Hypotonic Sclerotic Muscular Dystrophy 4
192 ART053 Arthrogryposis Spinal Muscular Atrophy 2
193 P PNT019 Pontocerebellar Hypoplasia 43
194 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
195 c PNT036 Pontocerebellar Hypoplasia, Type 6 42
196 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
197 c PNT018 Pontocerebellar Hypoplasia, Type 1b 38
198 c PNT045 Pontocerebellar Hypoplasia, Type 1a 34
199 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
200 c PNT043 Pontocerebellar Hypoplasia, Type 4 32
201 c PNT044 Pontocerebellar Hypoplasia, Type 2a 32
202 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
203 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
204 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
205 c PNT039 Pontocerebellar Hypoplasia, Type 7 26
206 c PNT051 Pontocerebellar Hypoplasia, Type 1d 25
207 c PNT050 Pontocerebellar Hypoplasia, Type 11 25
208 c PNT047 Pontocerebellar Hypoplasia, Type 2b 25
209 c PNT048 Pontocerebellar Hypoplasia, Type 2c 25
210 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
211 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
212 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 17
213 c PNT052 Pontocerebellar Hypoplasia, Type 12 14
214 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
215 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
216 CNN005 Connective Tissue Disease 67
217 P MSC033 Muscle Disorders 56
218 ENT004 Enthesopathy 44
219 STP011 Stapes Ankylosis with Broad Thumbs and Toes 39
220 PTL003 Patellar Tendinitis 37
221 TNS014 Tenosynovitis 36
222 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 30
223 ATM005 Autoimmune Disease of Musculoskeletal System 26
224 CML001 Cumulative Trauma Disorders 25
225 c MYS019 Miyoshi Muscular Dystrophy 2 14
226 EMR021 Emery-Dreifuss Syndrome 12
227 SPN387 Spinal Muscular Atrophy, Segmental 10
228 MST003 Masters-Allen Syndrome 9
229 MSC031 Muscular Phosphorylase Kinase Deficiency 6
230 c AN5001 Ano5-Related Muscle Diseases 6
231 UTR013 Uterine Ligament Papillary Cystadenoma 5
232 c CNG411 Congenital Disorder of Glycosylation, Type in 65
233 P CRN015 Cornelia De Lange Syndrome 64
234 P DST002 Distal Arthrogryposis 59
235 c CRN139 Cornelia De Lange Syndrome 1 56
236 P MSC003 Muscular Atrophy 56
237 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
238 c ART120 Arthrogryposis, Distal, Type 3 52
239 END021 Endomyocardial Fibrosis 52
240 c ART144 Arthrogryposis, Distal, Type 1a 50
241 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
242 c ART119 Arthrogryposis, Distal, Type 5 50
243 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
244 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
245 DYS064 Dystonia 3, Torsion, X-Linked 46
246 c ART061 Arthrogryposis, Distal, Type 2a 45
247 BRS064 Bursitis 44
248 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
249 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
250 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
251 c ART146 Arthrogryposis, Distal, Type 9 41
252 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
253 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
254 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
255 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
256 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
257 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
258 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
259 c MYT029 Myotonia Congenita, Autosomal Recessive 38
260 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
261 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
262 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
263 c MYT027 Myotonia Congenita, Autosomal Dominant 33
264 c CNG379 Congenital Disorder of Glycosylation, Type It 33
265 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
266 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
267 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
268 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
269 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
270 NDL002 Nodular Tenosynovitis 30
271 ERL030 Early-Onset Generalized Limb-Onset Dystonia 30
272 c CNG188 Congenital Disorder of Glycosylation, Type if 30
273 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
274 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
275 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
276 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
277 c ART112 Arthrogryposis, Distal, Type 10 29
278 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
279 c ART104 Arthrogryposis, Distal, Type 5d 28
280 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
281 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
282 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
283 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
284 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
285 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
286 c CRN134 Cornelia De Lange Syndrome 2 26
287 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 25
288 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
289 c ART122 Arthrogryposis, Distal, Type 8 25
290 OVR077 Overuse Syndrome 25
291 RPT005 Repetitive Motion Disorders 24
292 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
293 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
294 c CRN209 Cornelia De Lange Syndrome 5 23
295 c CRN215 Cornelia De Lange Syndrome 4 23
296 c ART128 Arthrogryposis, Distal, Type 6 23
297 c ART131 Arthrogryposis, Distal, Type 4 22
298 c CRN135 Cornelia De Lange Syndrome 3 22
299 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 21
300 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 20
301 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
302 c ART060 Arthrogryposis, Distal, Type 1b 19
303 c ART054 Arthrogryposis, Distal, Type 2e 16
304 RPT006 Repetitive Stress Injuries 16
305 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 16
306 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 15
307 ANT051 Anterior Cruciate Ligament Tears 14
308 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
309 SPN396 Spinal Muscular Atrophy with Mental Retardation 13
310 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 12
311 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
312 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
313 MSC153 Muscular Dystrophy, Cardiac Type 10
314 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 10
315 MSC151 Muscular Hypertonia, Lethal 10
316 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
317 MSC144 Muscular Atrophy, Malignant Neurogenic 9
318 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
319 HYP751 Hypertrophia Musculorum Vera 9
320 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 9
321 MSC145 Muscular Dystrophy, Barnes Type 8
322 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
323 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
324 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
325 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
326 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
327 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
328 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 7
329 MSC155 Muscular Dystrophy, Mabry Type 6
330 TBL002 Tibial Collateral Ligament Bursitis 6
331 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 6
332 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
333 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
334 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
335 FBL001 Fibular Collateral Ligament Bursitis 3
336 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 2
337 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 2
338 P TMP003 Temporal Arteritis 68
339 P MYP004 Myopathy 65
340 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
341 ANK001 Ankylosis 56
342 P SCK002 Sick Sinus Syndrome 54
343 PNN001 Panniculitis 52
344 P MTC133 Mitochondrial Myopathy 52
345 c NML002 Nemaline Myopathy 1 48
346 GSG001 Gas Gangrene 48
347 c NML003 Nemaline Myopathy 2 46
348 SNT005 Sinoatrial Node Disease 45
349 TND005 Tendinitis 45
350 P MTC004 Mitochondrial Encephalomyopathy 44
351 MYS001 Myositis Ossificans 44
352 PLM030 Pleomorphic Rhabdomyosarcoma 43
353 DPH021 Diaphragm Disease 43
354 MYF002 Myofascial Pain Syndrome 43
355 c NML004 Nemaline Myopathy 3 41
356 P MYG005 Myoglobinuria 41
357 MSC004 Muscle Tissue Disease 39
358 c NML005 Nemaline Myopathy 4 38
359 CLC004 Calcific Tendinitis 38
360 c MYG007 Myoglobinuria, Recurrent 38
361 SMT002 Smooth Muscle Tumor 38
362 INT013 Intramuscular Hemangioma 37
363 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
364 MYT003 Myotonic Disease 37
365 MYS002 Myositis Fibrosa 36
366 c SVR040 Severe Congenital Nemaline Myopathy 35
367 CNT009 Central Core Myopathy 32
368 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 32
369 DPH006 Diaphragmatic Eventration 32
370 EPT011 Epithelioid Leiomyosarcoma 31
371 SPN009 Spindle Cell Rhabdomyosarcoma 31
372 MYX006 Myxoid Leiomyosarcoma 31
373 c INT274 Intermediate Congenital Nemaline Myopathy 31
374 CNG032 Congenital Structural Myopathy 31
375 c INF031 Inflammatory Leiomyosarcoma 30
376 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
377 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
378 c FML272 Familial Sick Sinus Syndrome 27
379 P SCP010 Scapuloperoneal Myopathy 27
380 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 26
381 CNV006 Conventional Leiomyosarcoma 25
382 c ADL068 Adult-Onset Nemaline Myopathy 25
383 c NML022 Nemaline Myopathy 10 24
384 GRN036 Granulomatous Myositis 24
385 c MYP112 Myopathy, Distal, 3 24
386 c JVN019 Juvenile Temporal Arteritis 24
387 MYB001 Myoblastoma 24
388 PLM004 Pulmonary Artery Leiomyosarcoma 23
389 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
390 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
391 c SCK014 Sick Sinus Syndrome 2 23
392 c NML007 Nemaline Myopathy 6 23
393 c SCK017 Sick Sinus Syndrome 1 23
394 c NML024 Nemaline Myopathy 11, Autosomal Recessive 22
395 c NML010 Nemaline Myopathy 7 21
396 MYP038 Myopathy, Congenital, Compton-North 20
397 c NML021 Nemaline Myopathy 9 20
398 c MYP095 Myopathy, Distal, 4 20
399 c ART102 Arterial Calcification, Generalized, of Infancy, 2 20
400 EPD011 Epidemic Pleurodynia 20
401 c MYP116 Myopathy, Distal, 5 20
402 MYP005 Myopathy of Extraocular Muscle 20
403 c GNR020 Gne-Related Myopathy 19
404 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 18
405 c SCK022 Sick Sinus Syndrome 3 17
406 c MYG006 Myoglobinuria, Autosomal Dominant 16
407 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 16
408 P MYP124 Myopathy, Distal, Infantile-Onset 15
409 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 14
410 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 13
411 OVR035 Ovary Leiomyosarcoma 13
412 SPR003 Superior Vena Cava Leiomyosarcoma 12
413 BCP001 Bicipital Tenosynovitis 12
414 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
415 GLL016 Gallbladder Leiomyosarcoma 11
416 c CV3001 Cav3-Related Distal Myopathy 11
417 GLL014 Gallbladder Rhabdomyosarcoma 9
418 OVR023 Ovary Rhabdomyosarcoma 9
419 GRN012 Granular Cell Leiomyosarcoma 9
420 c BNG038 Benign Autosomal Dominant Myopathy 8
421 MDS017 Mediastinum Leiomyosarcoma 8
422 RHM016 Rheumatic Encephalitis 8
423 MDS008 Mediastinum Rhabdomyosarcoma 7
424 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
425 ANS009 Anus Leiomyosarcoma 7
426 ANS008 Anus Rhabdomyosarcoma 7
427 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
428 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 5
429 TNS002 Tenosynovitis of Foot and Ankle 5
430 STR082 Striated Muscle Rhabdoid Tumor 4
431 c MYG002 Myoglobinuria Dominant Form 4
432 TBL004 Tibialis Tendinitis 3
433 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 29
434 WLK001 Walker-Warburg Syndrome 60
435 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 55
436 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 46
437 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 23
438 AMY098 Amyotrophy, Monomelic 38
439 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
440 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
441 c DST030 Distal Hereditary Motor Neuropathy, Type V 25
442 P ACQ022 Acquired Generalized Lipodystrophy 54
443 c CNG012 Congenital Generalized Lipodystrophy 52
444 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
445 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 48
446 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 44
447 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 42
448 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
449 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 26
450 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
451 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
452 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
453 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
454 ADP007 Adie Pupil 43
455 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
456 FBR011 Fibrodysplasia Ossificans Progressiva 64
457 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
458 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26
459 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
460 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
461 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 22
462 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
463 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 39
464 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 36
465 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 36
466 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
467 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 28
468 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 27
469 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
470 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
471 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24
472 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
473 CRP001 Carpal Tunnel Syndrome 72
474 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39
475 c ART147 Arthrogryposis, Distal, Type 7 34
476 MDN008 Median Arcuate Ligament Syndrome 32
477 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
478 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 27
479 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 26
480 MSC026 Muscular Dystrophy White Matter Spongiosis 25
481 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 20
482 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
483 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 15
484 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 11
485 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 10
486 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 10
487 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 6
488 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 50
489 PST020 Postpoliomyelitis Syndrome 45
490 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 37
491 DQR001 De Quervain Disease 34
492 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 33
493 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 33
494 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 14
495 c GLY008 Glycogen Storage Disease Ii 67
496 c GLY060 Glycogen Storage Disease Ia 62
497 c GLY003 Glycogen Storage Disease Iii 62
498 P GLY013 Glycogen Storage Disease 62
499 CNT105 Central Core Disease of Muscle 58
500 c GLY005 Glycogen Storage Disease Vi 57
501 c GLY004 Glycogen Storage Disease V 55
502 PGM001 Pigmented Villonodular Synovitis 54
503 c GLY007 Glycogen Storage Disease Iv 52
504 c GLY011 Glycogen Storage Disease Vii 52
505 c MYP125 Myopathy, Distal, 1 47
506 c GLY098 Glycogen Storage Disease, Type Ixd 40
507 c GLY023 Glycogen Storage Disease Type 0 39
508 c GLY044 Glycogen Storage Disease Ixc 38
509 c GLY016 Glycogen Storage Disease Ib 36
510 ADR023 Adrenomyodystrophy 33
511 c GLY097 Glycogen Storage Disease Ixb 29
512 c GLY017 Glycogen Storage Disease Ic 29
513 c GLY009 Glycogen Storage Disease Xv 29
514 c GLY043 Glycogen Storage Disease Xii 28
515 c GLY057 Glycogen Storage Disease X 28
516 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 27
517 c GLY006 Glycogen Storage Disease Viii 26
518 SLH001 Salih Myopathy 24
519 c GLY001 Glycogen Storage Disease Ix 23
520 c GLY059 Glycogen Storage Disease Xiii 22
521 c GLY093 Glycogen Storage Disease Ixa 16
522 KCH001 Kocher-Debre-Semelaigne Syndrome 14
523 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 13
524 DPM009 Dpm2-Cdg 12
525 UTR040 Uterine Ligament Adenocarcinoma 8
526 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
527 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
528 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
529 UTR012 Uterine Ligament Serous Adenocarcinoma 6
530 c MYT021 Myotonic Dystrophy 1 72
531 INT146 Intervertebral Disc Disease 65
532 P TRT019 Torticollis 49
533 MTR007 Motor Peripheral Neuropathy 41
534 c PNT010 Pontocerebellar Hypoplasia Type 1 39
535 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
536 P DST101 Distal Hereditary Motor Neuropathies 25
537 c CNG129 Congenital Torticollis 24
538 DYT006 Dyt-Tor1a 24
539 MLN064 Melanoma of Soft Tissue 22
540 PRT108 Puerto Rican Infant Hypotonia Syndrome 20
541 DYT007 Dyt-Tubb4a 13
542 JNK001 Jankovic Rivera Syndrome 12
543 c TRT007 Torticollis, Familial 9
544 BSS002 Bassoe Syndrome 7
545 ADD003 Adducted Thumbs Dundar Type 6
546 c SPN225 Spondyloarthropathy 1 76
547 INC002 Inclusion Body Myositis 64
548 P MSC007 Muscle Hypertrophy 64
549 ADN027 Adenomyosis 62
550 P MYS005 Myositis 62
551 SPN027 Spinal Stenosis 62
552 MTR014 Motor Neuron Disease 60
553 P MLG056 Malignant Hyperthermia 60
554 c MYT020 Myotonic Dystrophy 2 59
555 P SPN052 Spondyloarthropathy 58
556 c RHB024 Rhabdomyosarcoma 2 58
557 P RHB003 Rhabdomyosarcoma 57
558 MYM001 Myoma 57
559 MSC072 Muscle Cancer 56
560 P ATR001 Atrioventricular Septal Defect 56
561 P PTT014 Pitt-Hopkins Syndrome 54
562 P CNT004 Centronuclear Myopathy 53
563 P MYT002 Myotonic Dystrophy 52
564 CNG046 Congenital Fiber-Type Disproportion 51
565 P MYP087 Myopathy, Tubular Aggregate, 1 50
566 NDL003 Nodular Nonsuppurative Panniculitis 50
567 P NML001 Nemaline Myopathy 48
568 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
569 SPS057 Spasticity 44
570 P HYP265 Hypotonia 43
571 c MYP123 Myopathy, Centronuclear, 1 42
572 SML014 Small Intestine Leiomyosarcoma 40
573 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
574 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 40
575 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 40
576 c MYP131 Myopathy, Centronuclear, 2 40
577 MYP094 Myopathy, Spheroid Body 39
578 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
579 c MLG147 Malignant Hyperthermia 1 39
580 c ADL027 Adult Dermatomyositis 38
581 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 38
582 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
583 P ART106 Arterial Calcification, Generalized, of Infancy, 1 37
584 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
585 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
586 c NML006 Nemaline Myopathy 5 35
587 c PTT029 Pitt-Hopkins-Like Syndrome 1 35
588 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 34
589 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 33
590 DYS030 Dysferlinopathy 33
591 c CHR135 Charcot-Marie-Tooth Disease Type 2a 32
592 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 31
593 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
594 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 31
595 RDC010 Reducing Body Myopathy 29
596 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
597 LNG023 Lung Leiomyosarcoma 29
598 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
599 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 27
600 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
601 c JVN047 Juvenile Spondyloarthropathy 27
602 c SNG011 Singleton-Merten Syndrome 1 26
603 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
604 c MYP148 Myopathy, Centronuclear, 5 26
605 c CHR026 Charcot-Marie-Tooth Disease Type X 24
606 c PTT030 Pitt-Hopkins-Like Syndrome 2 24
607 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 24
608 c MYP088 Myopathy, Tubular Aggregate, 2 23
609 c INF065 Infantile Hypotonia 23
610 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 23
611 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
612 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
613 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
614 c MLG148 Malignant Hyperthermia 2 22
615 c MLG149 Malignant Hyperthermia 3 22
616 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 21
617 c MYP098 Myopathy, Centronuclear, 4 21
618 c NML025 Nemaline Myopathy 8 21
619 c MLG150 Malignant Hyperthermia 4 21
620 CMP017 Camptocormism 20
621 c MLG151 Malignant Hyperthermia 5 20
622 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 19
623 PLM104 Palmoplantar Keratoderma, Nagashima Type 19
624 c SNG012 Singleton-Merten Syndrome 2 18
625 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
626 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 18
627 c ATR047 Atrioventricular Septal Defect 2 18
628 c CHR147 Charcot-Marie-Tooth Disease Type 2k 18
629 c ATR064 Atrioventricular Septal Defect 3 17
630 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
631 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 17
632 c PTT042 Pitt-Hopkins-Like Syndrome 17
633 c MYS010 Myostatin-Related Muscle Hypertrophy 16
634 c ATR067 Atrioventricular Septal Defect 4 16
635 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
636 c MLG152 Malignant Hyperthermia 6 16
637 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
638 c ATR071 Atrioventricular Septal Defect 5 16
639 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
640 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
641 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
642 c SPN226 Spondyloarthropathy 2 14
643 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 14
644 CLN012 Colon Leiomyosarcoma 14
645 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 14
646 FLP002 Floppy Infant Syndrome 13
647 c BCT018 Bacterial Myositis 13
648 c VRL025 Viral Myositis 12
649 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
650 c CHR571 Charcot-Marie-Tooth Disease Type 5 12
651 LRY014 Larynx Leiomyosarcoma 12
652 PLM003 Pulmonary Vein Leiomyosarcoma 12
653 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
654 TRC088 Trochleitis 11
655 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
656 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 11
657 BNL001 Bone Leiomyosarcoma 10
658 c SPN256 Spondyloarthropathy 3 10
659 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
660 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
661 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
662 BLD037 Bile Duct Rhabdomyosarcoma 10
663 CNT030 Central Nervous System Leiomyosarcoma 10
664 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
665 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
666 CYL003 Cylindrical Spirals Myopathy 8
667 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
668 P VGN013 Vagina Botryoid Rhabdomyosarcoma 8
669 CNT021 Central Nervous System Rhabdomyosarcoma 7
670 FLL007 Fallopian Tube Leiomyosarcoma 7
671 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 6
672 MXD015 Mixed Type Rhabdomyosarcoma 5
673 MSC077 Muscle Eye Brain Disease 45
674 DSM004 Desmoid Tumor 65
675 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
676 QZM001 Qazi Markouizos Syndrome 14
677 P CHR071 Charcot-Marie-Tooth Disease 65
678 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 41
679 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 40
680 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 31
681 c HRD138 Hereditary Motor and Sensory Neuropathy V 31
682 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 25
683 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
684 MNK001 Menkes Disease 65
685 P SNG014 Singleton-Merten Syndrome 31
686 ZTT001 Zttk Syndrome 27
687 NCR015 Necrotizing Autoimmune Myopathy 24
688 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
689 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
690 P PRK057 Parkinson Disease, Late-Onset 77
691 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
692 P CTS001 Cutis Laxa 62
693 P CMR001 Camurati-Engelmann Disease 62
694 CHL028 Childhood Type Dermatomyositis 59
695 P LMY004 Leiomyosarcoma 59
696 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
697 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56
698 ALV005 Alveolar Soft Part Sarcoma 55
699 PSD012 Pseudoachondroplasia 55
700 MBS002 Moebius Syndrome 54
701 CRT033 Corticobasal Degeneration 53
702 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 53
703 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
704 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52
705 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
706 P MYT023 Myotonia Congenita 49
707 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 49
708 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 47
709 c CHR095 Chronic Progressive External Ophthalmoplegia 47
710 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
711 SYD002 Sydenham Chorea 47
712 c CTS045 Cutis Laxa, Autosomal Dominant 1 46
713 P DMY001 Demyelinating Polyneuropathy 46
714 PYM001 Pyomyositis 46
715 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 45
716 MYP100 Myopathy, X-Linked, with Excessive Autophagy 45
717 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 43
718 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
719 BRD001 Brody Myopathy 41
720 c ERL056 Early-Onset Parkinson's Disease 40
721 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 38
722 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
723 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 37
724 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 36
725 c PRK025 Parkinson Disease 10 35
726 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 35
727 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 35
728 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
729 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
730 c HRD173 Hereditary Late-Onset Parkinson Disease 34
731 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 34
732 SKL003 Skeletal Muscle Cancer 34
733 SKL002 Skeletal Muscle Neoplasm 33
734 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 33
735 VRT007 Vertical Talus, Congenital 33
736 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
737 c PRK085 Parkinson Disease 1, Autosomal Dominant 32
738 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 31
739 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 31
740 c PRK071 Parkinson Disease 14, Autosomal Recessive 30
741 c ACQ027 Acquired Cutis Laxa 30
742 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
743 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 28
744 c PRK093 Parkinson Disease 8, Autosomal Dominant 28
745 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 27
746 HYD030 Hydroxykynureninuria 26
747 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 26
748 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 26
749 c PRK022 Parkinson Disease 12 26
750 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 26
751 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 26
752 c CTS041 Cutis Laxa, Autosomal Dominant 3 25
753 c PRK065 Parkinson Disease 20, Early-Onset 25
754 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 25
755 c PRK081 Parkinson Disease 19a, Juvenile-Onset 24
756 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 24
757 WND002 Wandering Spleen 24
758 c CMR006 Camurati-Engelmann Disease, Type 2 23
759 c PRK052 Parkinson Disease 17 23
760 c PRK091 Parkinson Disease 4, Autosomal Dominant 23
761 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
762 c PRK099 Parkinson Disease 18, Autosomal Dominant 23
763 c PRK070 Parkinson Disease 21 22
764 c JVN058 Juvenile-Onset Parkinson's Disease 22
765 c PRK008 Parkinson Disease Type 9 22
766 c ATP003 Atp6v0a2-Related Cutis Laxa 21
767 c PRK094 Parkinson Disease 11, Autosomal Dominant 20
768 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 20
769 c PRK083 Parkinson Disease 22, Autosomal Dominant 19
770 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
771 c LRR001 Lrrk2-Related Parkinson Disease 18
772 c PRK058 Parkinson Disease 16 17
773 c PRK098 Parkinson Disease 5, Autosomal Dominant 16
774 c LTB003 Ltbp4-Related Cutis Laxa 16
775 CHL030 Childhood Botryoid Rhabdomyosarcoma 14
776 c EFM001 Efemp2-Related Cutis Laxa 14
777 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 13
778 c VPS003 Vps35-Related Parkinson Disease 10
779 c FBL003 Fbln5-Related Cutis Laxa 8
780 P TTL001 Total Internal Ophthalmoplegia 8
781 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
782 P DYS154 Dystonia 66
783 c DYS056 Dystonia 12 54
784 PRN038 Prune Belly Syndrome 54
785 c DYS119 Dystonia 9 38
786 c HRD198 Hereditary Dystonia 32
787 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 32
788 c DYS059 Dystonia 16 28
789 c DYS146 Dystonia 24 28
790 c DYS162 Dystonia, Juvenile-Onset 27
791 c DYS145 Dystonia 23 25
792 c DYS151 Dystonia 25 22
793 c DYS172 Dystonia 27 22
794 c DYS138 Dystonia 21 21
795 c KMT002 Kmt2b-Related Dystonia 10
796 P HYP607 Hypercholesterolemia, Familial 82
797 c DPH024 Diaphragmatic Hernia, Congenital 66
798 P DRM010 Dermatomyositis 66
799 c LPD015 Lipodystrophy, Familial Partial, Type 2 61
800 CYS005 Cysticercosis 59
801 P EMB005 Embryonal Rhabdomyosarcoma 54
802 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
803 c MYP132 Myopathy, Congenital 53
804 P FML012 Familial Partial Lipodystrophy 52
805 NRL004 Neuroleptic Malignant Syndrome 51
806 c LPD021 Lipodystrophy, Familial Partial, Type 3 50
807 P INF049 Infantile Myofibromatosis 50
808 P CNT056 Cantu Syndrome 50
809 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
810 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
811 c LPD019 Lipodystrophy, Partial, Acquired 45
812 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 44
813 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
814 c HYP396 Hypercholesterolemia, Autosomal Recessive 40
815 c MYF007 Myofibromatosis, Infantile, 1 39
816 P BTR001 Botryoid Rhabdomyosarcoma 39
817 c MTC010 Mitochondrial Dna Depletion Syndrome 37
818 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
819 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
820 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
821 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
822 c MTC063 Mitochondrial Dna Depletion Syndrome 3 31
823 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
824 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
825 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
826 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 29
827 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
828 c RHB023 Rhabdomyosarcoma, Embryonal, 1 28
829 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
830 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
831 c LPD036 Lipodystrophy, Familial Partial, Type 6 25
832 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
833 c LPD030 Lipodystrophy, Familial Partial, Type 5 24
834 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
835 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 23
836 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
837 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
838 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
839 c MYF010 Myofibromatosis, Infantile, 2 17
840 c DPH016 Diaphragmatic Hernia 3 16
841 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
842 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
843 c DPH025 Diaphragmatic Hernia 2 15
844 P MTC014 Mitochondrial Dna Deletion Syndromes 13
845 P HRN027 Hernia, Anterior Diaphragmatic 10
846 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
847 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
848 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 8
849 c CNT094 Cantú Syndrome and Related Disorders 5
850 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 65
851 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
852 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
853 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
854 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
855 KRN002 Kearns-Sayre Syndrome 63
856 TXC011 Toxocariasis 42



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