Muscle Diseases Category (851 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 47
2 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 66
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 33
6 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61
7 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 28
8 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 53
9 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
10 P SPN046 Spinal Muscular Atrophy 66
11 c SPN393 Spinal Muscular Atrophy, Type I 52
12 c SPN395 Spinal Muscular Atrophy, Type Ii 45
13 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 65
14 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 62
15 c SPN398 Spinal Muscular Atrophy, Type Iv 37
16 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 37
17 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
18 P ULL002 Ullrich Congenital Muscular Dystrophy 1 59
19 OCL008 Oculopharyngeal Muscular Dystrophy 52
20 SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 19
21 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 45
22 MSC152 Muscular Dystrophy, Becker Type 62
23 P EMR001 Emery-Dreifuss Muscular Dystrophy 55
24 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 42
25 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 39
26 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29
27 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 37
28 c RGD003 Rigid Spine Muscular Dystrophy 1 63
29 c JVN006 Juvenile Spinal Muscular Atrophy 41
30 c CNG112 Congenital Muscular Dystrophy Type 1a 31
31 c LM2001 Lama2-Related Muscular Dystrophy 22
32 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 51
33 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 39
34 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 35
35 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 34
36 MSC157 Muscular Dystrophy, Duchenne Type 65
37 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 46
38 c MYP078 Myopathy, Myofibrillar, 3 48
39 P MYF003 Myofibrillar Myopathy 47
40 c MYP072 Myopathy, Myofibrillar, 1 47
41 c MYP082 Myopathy, Myofibrillar, 2 42
42 c MYP079 Myopathy, Myofibrillar, 5 35
43 c MYP080 Myopathy, Myofibrillar, 4 30
44 c MYP119 Myopathy, Myofibrillar, 7 25
45 c MYP118 Myopathy, Myofibrillar, 8 23
46 P RGD004 Rigid Spine Muscular Dystrophy 19
47 P LMB006 Limb-Girdle Muscular Dystrophy 55
48 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 42
49 TBL009 Tibial Muscular Dystrophy 30
50 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
51 c SPN394 Spinal Muscular Atrophy, Type Iii 48
52 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 30
53 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
54 MSC012 Muscular Dystrophy, Duchenne and Becker Type 33
55 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
56 FKY002 Fukuyama Type Muscular Dystrophy 21
57 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 16
58 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 35
59 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 29
60 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 30
61 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26
62 P NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 25
63 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 23
64 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
65 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 14
66 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 29
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 42
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 MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
76 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 27
77 c RPP007 Rippling Muscle Disease 1 19
78 CST006 Costocoracoid Ligament, Congenitally Short 13
79 WLK001 Walker-Warburg Syndrome 59
80 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 30
81 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 24
82 c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 41
83 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 24
84 P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 37
85 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
86 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 23
87 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 23
88 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 20
89 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 29
90 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 23
91 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 24
92 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 30
93 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 30
94 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29
95 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 25
96 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23
97 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 22
98 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 22
99 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 19
100 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 40
101 AMY098 Amyotrophy, Monomelic 37
102 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 36
103 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 20
104 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 18
105 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 16
106 P BTH005 Bethlem Myopathy 1 53
107 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 31
108 c BTH006 Bethlem Myopathy 2 24
109 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 24
110 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 13
111 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 3
112 P MYS079 Miyoshi Muscular Dystrophy 47
113 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 33
114 P SCP010 Scapuloperoneal Myopathy 27
115 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 25
116 c PRG001 Progressive Muscular Atrophy 43
117 TBL022 Tibial Muscular Dystrophy, Tardive 35
118 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33
119 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 33
120 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24
121 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 22
122 c LSS005 Lissencephaly 1 53
123 P LSS002 Lissencephaly 49
124 c LSS006 Lissencephaly 2 38
125 c LSS010 Lissencephaly 4 32
126 c LSS025 Lissencephaly 5 25
127 c LSS009 Lissencephaly 3 25
128 c LSS035 Lissencephaly 8 23
129 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 21
130 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 21
131 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 14
132 c CNG012 Congenital Generalized Lipodystrophy 52
133 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 51
134 P ACQ022 Acquired Generalized Lipodystrophy 51
135 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 50
136 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 47
137 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 43
138 c MYS014 Miyoshi Muscular Dystrophy 3 39
139 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 33
140 BRW006 Brown Syndrome 28
141 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 22
142 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 17
143 PRX014 Proximal Spinal Muscular Atrophy 48
144 c MSC050 Muscular Dystrophy, Congenital, 1b 48
145 ADP007 Adie Pupil 42
146 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 40
147 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 33
148 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 32
149 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 28
150 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 28
151 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 25
152 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 22
153 RND001 Round Ligament Malignant Neoplasm 10
154 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 55
155 c DYS067 Dystonia 6, Torsion 34
156 P DYS068 Dystonia 7, Torsion 23
157 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 22
158 OCL023 Ocular Muscular Dystrophy 22
159 VCL008 Vacuolar Neuromyopathy 21
160 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 20
161 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 18
162 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
163 c TRS005 Torsion Dystonia with Onset in Infancy 13
164 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 11
165 c TRS025 Torsion Dystonia 2 11
166 c TRS027 Torsion Dystonia 4 9
167 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
168 c TRS028 Torsion Dystonia 17 7
169 OPH005 Ophthalmoplegic Muscular Dystrophy 3
170 FBR011 Fibrodysplasia Ossificans Progressiva 65
171 MSC190 Muscular Disease 53
172 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 34
173 SPN267 Spinal Muscular Atrophy, Jokela Type 26
174 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 21
175 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 20
176 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 16
177 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 36
178 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
179 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 32
180 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 30
181 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 26
182 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 26
183 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 19
184 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 17
185 c ULL003 Ullrich Congenital Muscular Dystrophy 2 15
186 TND001 Tendon Sheath Lipoma 11
187 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 11
188 UTR041 Uterine Ligament Cancer 10
189 BRD006 Broad Ligament Malignant Neoplasm 9
190 CLL037 Collagen Vi Related Muscular Dystrophy 7
191 P DST002 Distal Arthrogryposis 60
192 c ART144 Arthrogryposis, Distal, Type 1a 53
193 c ART120 Arthrogryposis, Distal, Type 3 52
194 c ART155 Arthrogryposis, Distal, Type 2b1 47
195 c ART061 Arthrogryposis, Distal, Type 2a 45
196 c ART146 Arthrogryposis, Distal, Type 9 42
197 TNS001 Tenosynovial Giant Cell Tumor 40
198 c ART147 Arthrogryposis, Distal, Type 7 36
199 c ART119 Arthrogryposis, Distal, Type 5 34
200 WLN001 Welander Distal Myopathy 34
201 ATR076 Atrophic Muscular Disease 34
202 MDN008 Median Arcuate Ligament Syndrome 32
203 c MYP081 Myopathy, Myofibrillar, 6 28
204 c ART104 Arthrogryposis, Distal, Type 5d 28
205 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 28
206 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 27
207 c ART128 Arthrogryposis, Distal, Type 6 27
208 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 25
209 c ART131 Arthrogryposis, Distal, Type 4 25
210 c ART122 Arthrogryposis, Distal, Type 8 25
211 BRW002 Brown's Tendon Sheath Syndrome 23
212 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 22
213 c ART060 Arthrogryposis, Distal, Type 1b 20
214 c ART054 Arthrogryposis, Distal, Type 2e 17
215 c ART156 Arthrogryposis, Distal, Type 2b2 17
216 CNG440 Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 16
217 c ART157 Arthrogryposis, Distal, Type 2b3 16
218 MSC158 Muscular Dystrophy, Scapulohumeral 13
219 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 12
220 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 9
221 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 9
222 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
223 ART053 Arthrogryposis Spinal Muscular Atrophy 2
224 PST020 Postpoliomyelitis Syndrome 44
225 c PNT034 Pontocerebellar Hypoplasia, Type 2e 43
226 P PNT019 Pontocerebellar Hypoplasia 43
227 c PNT049 Pontocerebellar Hypoplasia, Type 2d 42
228 c PNT036 Pontocerebellar Hypoplasia, Type 6 41
229 c PNT037 Pontocerebellar Hypoplasia, Type 3 40
230 c PNT018 Pontocerebellar Hypoplasia, Type 1b 39
231 c PNT045 Pontocerebellar Hypoplasia, Type 1a 35
232 DQR001 De Quervain Disease 34
233 c PNT043 Pontocerebellar Hypoplasia, Type 4 33
234 c PNT044 Pontocerebellar Hypoplasia, Type 2a 33
235 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
236 c PNT032 Pontocerebellar Hypoplasia, Type 9 30
237 c PNT033 Pontocerebellar Hypoplasia, Type 10 30
238 c PNT039 Pontocerebellar Hypoplasia, Type 7 28
239 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
240 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
241 c PNT051 Pontocerebellar Hypoplasia, Type 1d 26
242 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
243 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
244 c PNT042 Pontocerebellar Hypoplasia, Type 2f 23
245 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 21
246 c PNT052 Pontocerebellar Hypoplasia, Type 12 21
247 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 12
248 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 7
249 CNN005 Connective Tissue Disease 67
250 CNT105 Central Core Disease of Muscle 59
251 P MSC033 Muscle Disorders 57
252 PGM001 Pigmented Villonodular Synovitis 54
253 c MYP125 Myopathy, Distal, 1 47
254 ENT004 Enthesopathy 44
255 STP011 Stapes Ankylosis with Broad Thumbs and Toes 40
256 PTL003 Patellar Tendinitis 38
257 TNS014 Tenosynovitis 36
258 ADR023 Adrenomyodystrophy 32
259 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 31
260 ATM005 Autoimmune Disease of Musculoskeletal System 28
261 CML001 Cumulative Trauma Disorders 25
262 c MYP112 Myopathy, Distal, 3 23
263 c MYP116 Myopathy, Distal, 5 23
264 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 15
265 KCH001 Kocher-Debre-Semelaigne Syndrome 14
266 P MYP124 Myopathy, Distal, Infantile-Onset 14
267 c MYS019 Miyoshi Muscular Dystrophy 2 14
268 DPM009 Dpm2-Cdg 13
269 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 13
270 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 12
271 EMR021 Emery-Dreifuss Syndrome 12
272 c CV3001 Cav3-Related Distal Myopathy 11
273 SPN387 Spinal Muscular Atrophy, Segmental 10
274 MST003 Masters-Allen Syndrome 9
275 c AN5001 Ano5-Related Muscle Diseases 6
276 MSC031 Muscular Phosphorylase Kinase Deficiency 6
277 UTR013 Uterine Ligament Papillary Cystadenoma 5
278 c MYT021 Myotonic Dystrophy 1 71
279 c GLY008 Glycogen Storage Disease Ii 66
280 c CNG411 Congenital Disorder of Glycosylation, Type in 64
281 INT146 Intervertebral Disc Disease 64
282 P CRN015 Cornelia De Lange Syndrome 63
283 P GLY013 Glycogen Storage Disease 61
284 c GLY003 Glycogen Storage Disease Iii 61
285 c CRN139 Cornelia De Lange Syndrome 1 57
286 c GLY005 Glycogen Storage Disease Vi 57
287 c GLY004 Glycogen Storage Disease V 56
288 P MSC003 Muscular Atrophy 56
289 c GLY007 Glycogen Storage Disease Iv 54
290 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
291 c GLY011 Glycogen Storage Disease Vii 52
292 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
293 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
294 END021 Endomyocardial Fibrosis 51
295 c GLY060 Glycogen Storage Disease Ia 50
296 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
297 P MYT023 Myotonia Congenita 49
298 P TRT019 Torticollis 48
299 DYS064 Dystonia 3, Torsion, X-Linked 45
300 BRS064 Bursitis 44
301 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
302 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
303 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
304 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
305 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
306 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
307 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
308 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
309 c GLY023 Glycogen Storage Disease Type 0 41
310 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
311 c GLY098 Glycogen Storage Disease, Type Ixd 41
312 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
313 c PNT010 Pontocerebellar Hypoplasia Type 1 40
314 c GLY044 Glycogen Storage Disease Ixc 40
315 c MYT029 Myotonia Congenita, Autosomal Recessive 39
316 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
317 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
318 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
319 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
320 c GLY016 Glycogen Storage Disease Ib 37
321 c CNG379 Congenital Disorder of Glycosylation, Type It 36
322 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
323 c GLY057 Glycogen Storage Disease X 33
324 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
325 c MYT027 Myotonia Congenita, Autosomal Dominant 33
326 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
327 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
328 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
329 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
330 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
331 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
332 c CNG188 Congenital Disorder of Glycosylation, Type if 31
333 NDL002 Nodular Tenosynovitis 31
334 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
335 ERL030 Early-Onset Generalized Limb-Onset Dystonia 30
336 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
337 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
338 c GLY009 Glycogen Storage Disease Xv 30
339 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
340 c GLY017 Glycogen Storage Disease Ic 30
341 c CRN134 Cornelia De Lange Syndrome 2 29
342 c ART112 Arthrogryposis, Distal, Type 10 29
343 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
344 c GLY097 Glycogen Storage Disease Ixb 29
345 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 29
346 c GLY043 Glycogen Storage Disease Xii 28
347 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 28
348 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
349 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
350 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
351 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
352 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 27
353 c GLY006 Glycogen Storage Disease Viii 27
354 DYT006 Dyt-Tor1a 26
355 c CRN135 Cornelia De Lange Syndrome 3 26
356 c CRN215 Cornelia De Lange Syndrome 4 25
357 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
358 c CRN209 Cornelia De Lange Syndrome 5 25
359 OVR077 Overuse Syndrome 25
360 RPT005 Repetitive Motion Disorders 24
361 c GLY059 Glycogen Storage Disease Xiii 24
362 c CNG129 Congenital Torticollis 23
363 c GLY001 Glycogen Storage Disease Ix 23
364 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 20
365 c GLY093 Glycogen Storage Disease Ixa 19
366 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 18
367 RPT006 Repetitive Stress Injuries 16
368 MSC026 Muscular Dystrophy White Matter Spongiosis 15
369 ANT051 Anterior Cruciate Ligament Tears 14
370 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 14
371 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
372 DYT007 Dyt-Tubb4a 13
373 JNK001 Jankovic Rivera Syndrome 13
374 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
375 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 12
376 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
377 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
378 MSC153 Muscular Dystrophy, Cardiac Type 9
379 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
380 MSC144 Muscular Atrophy, Malignant Neurogenic 9
381 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
382 MSC151 Muscular Hypertonia, Lethal 9
383 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 8
384 HYP751 Hypertrophia Musculorum Vera 8
385 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 8
386 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
387 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 7
388 MSC145 Muscular Dystrophy, Barnes Type 7
389 TBL002 Tibial Collateral Ligament Bursitis 7
390 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 7
391 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 7
392 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 7
393 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 7
394 BSS002 Bassoe Syndrome 7
395 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 6
396 MSC155 Muscular Dystrophy, Mabry Type 6
397 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 6
398 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
399 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
400 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
401 FBL001 Fibular Collateral Ligament Bursitis 3
402 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 2
403 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 2
404 c SPN225 Spondyloarthropathy 1 75
405 P TMP003 Temporal Arteritis 69
406 P MYP004 Myopathy 64
407 P MSC007 Muscle Hypertrophy 64
408 INC002 Inclusion Body Myositis 63
409 ADN027 Adenomyosis 60
410 P MLG056 Malignant Hyperthermia 60
411 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 60
412 P SPN052 Spondyloarthropathy 59
413 c MYT020 Myotonic Dystrophy 2 58
414 c RHB024 Rhabdomyosarcoma 2 57
415 P ATR001 Atrioventricular Septal Defect 56
416 ANK001 Ankylosis 56
417 P SCK002 Sick Sinus Syndrome 53
418 P MYP087 Myopathy, Tubular Aggregate, 1 52
419 P MYT002 Myotonic Dystrophy 52
420 P CNT004 Centronuclear Myopathy 52
421 P MTC133 Mitochondrial Myopathy 52
422 CNG046 Congenital Fiber-Type Disproportion 51
423 c NML002 Nemaline Myopathy 1 50
424 c NML003 Nemaline Myopathy 2 49
425 P NML001 Nemaline Myopathy 48
426 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 48
427 GSG001 Gas Gangrene 47
428 SNT005 Sinoatrial Node Disease 46
429 TND005 Tendinitis 45
430 P MTC004 Mitochondrial Encephalomyopathy 44
431 c NML004 Nemaline Myopathy 3 44
432 PLM030 Pleomorphic Rhabdomyosarcoma 43
433 DPH021 Diaphragm Disease 43
434 MYF002 Myofascial Pain Syndrome 43
435 c MYP123 Myopathy, Centronuclear, 1 43
436 MYS001 Myositis Ossificans 42
437 MYP094 Myopathy, Spheroid Body 40
438 P MYG005 Myoglobinuria 40
439 c NML005 Nemaline Myopathy 4 40
440 c MYP131 Myopathy, Centronuclear, 2 39
441 MSC004 Muscle Tissue Disease 39
442 CLC004 Calcific Tendinitis 38
443 INT013 Intramuscular Hemangioma 38
444 SMT002 Smooth Muscle Tumor 37
445 MYS002 Myositis Fibrosa 37
446 MYT003 Myotonic Disease 37
447 c NML006 Nemaline Myopathy 5 36
448 c SVR040 Severe Congenital Nemaline Myopathy 35
449 DYS030 Dysferlinopathy 33
450 CNT009 Central Core Myopathy 33
451 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 33
452 SPN009 Spindle Cell Rhabdomyosarcoma 32
453 DPH006 Diaphragmatic Eventration 32
454 c INF031 Inflammatory Leiomyosarcoma 32
455 MYX006 Myxoid Leiomyosarcoma 32
456 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 32
457 EPT011 Epithelioid Leiomyosarcoma 31
458 c INT274 Intermediate Congenital Nemaline Myopathy 31
459 c MTC116 Mitochondrial Myopathy, Infantile, Transient 30
460 CNG032 Congenital Structural Myopathy 30
461 RDC010 Reducing Body Myopathy 29
462 CNV006 Conventional Leiomyosarcoma 28
463 c JVN047 Juvenile Spondyloarthropathy 28
464 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 28
465 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 28
466 c NML022 Nemaline Myopathy 10 26
467 c MYP088 Myopathy, Tubular Aggregate, 2 26
468 c NML007 Nemaline Myopathy 6 25
469 GRN036 Granulomatous Myositis 25
470 c ADL068 Adult-Onset Nemaline Myopathy 25
471 c NML010 Nemaline Myopathy 7 24
472 MYB001 Myoblastoma 24
473 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
474 c ART102 Arterial Calcification, Generalized, of Infancy, 2 23
475 c NML024 Nemaline Myopathy 11, Autosomal Recessive 23
476 c JVN019 Juvenile Temporal Arteritis 23
477 c MYP095 Myopathy, Distal, 4 22
478 c MYP098 Myopathy, Centronuclear, 4 22
479 c MLG151 Malignant Hyperthermia 5 22
480 c MYP148 Myopathy, Centronuclear, 5 22
481 c MLG148 Malignant Hyperthermia 2 22
482 c MLG149 Malignant Hyperthermia 3 21
483 c NML021 Nemaline Myopathy 9 21
484 c MLG150 Malignant Hyperthermia 4 21
485 PLM004 Pulmonary Artery Leiomyosarcoma 21
486 MYP038 Myopathy, Congenital, Compton-North 20
487 c ATR047 Atrioventricular Septal Defect 2 20
488 MYP005 Myopathy of Extraocular Muscle 20
489 EPD011 Epidemic Pleurodynia 19
490 c GNR020 Gne-Related Myopathy 19
491 c DPH016 Diaphragmatic Hernia 3 19
492 c ATR067 Atrioventricular Septal Defect 4 18
493 c SCK022 Sick Sinus Syndrome 3 18
494 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 18
495 c ATR064 Atrioventricular Septal Defect 3 18
496 c MLG152 Malignant Hyperthermia 6 17
497 c ATR071 Atrioventricular Septal Defect 5 16
498 c MYG006 Myoglobinuria, Autosomal Dominant 16
499 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 15
500 c SPN226 Spondyloarthropathy 2 14
501 c DPH025 Diaphragmatic Hernia 2 14
502 c BCT018 Bacterial Myositis 14
503 SPR003 Superior Vena Cava Leiomyosarcoma 13
504 BCP001 Bicipital Tenosynovitis 13
505 OVR035 Ovary Leiomyosarcoma 13
506 GLL016 Gallbladder Leiomyosarcoma 11
507 TRC088 Trochleitis 11
508 c SPN256 Spondyloarthropathy 3 11
509 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
510 GRN012 Granular Cell Leiomyosarcoma 10
511 GLL014 Gallbladder Rhabdomyosarcoma 9
512 P HRN027 Hernia, Anterior Diaphragmatic 9
513 c BNG038 Benign Autosomal Dominant Myopathy 9
514 CYL003 Cylindrical Spirals Myopathy 8
515 OVR023 Ovary Rhabdomyosarcoma 8
516 MDS017 Mediastinum Leiomyosarcoma 8
517 P TTL001 Total Internal Ophthalmoplegia 8
518 MDS008 Mediastinum Rhabdomyosarcoma 7
519 ANS008 Anus Rhabdomyosarcoma 7
520 ANS009 Anus Leiomyosarcoma 6
521 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
522 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 6
523 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
524 c MYG002 Myoglobinuria Dominant Form 5
525 STR082 Striated Muscle Rhabdoid Tumor 4
526 TNS002 Tenosynovitis of Foot and Ankle 4
527 TBL004 Tibialis Tendinitis 3
528 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 28
529 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 57
530 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 45
531 P SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 21
532 SCP002 Scapuloperoneal Spinal Muscular Atrophy 30
533 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 20
534 c DST030 Distal Hereditary Motor Neuropathy, Type V 28
535 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 29
536 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 29
537 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
538 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 27
539 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
540 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 24
541 MSC077 Muscle Eye Brain Disease 45
542 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
543 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 27
544 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 27
545 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 27
546 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26
547 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 24
548 DSM004 Desmoid Tumor 60
549 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 47
550 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 40
551 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
552 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
553 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
554 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 26
555 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 26
556 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 24
557 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
558 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
559 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 20
560 CRP001 Carpal Tunnel Syndrome 71
561 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 39
562 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
563 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 22
564 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 20
565 QZM001 Qazi Markouizos Syndrome 15
566 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 14
567 c CHR315 Charcot-Marie-Tooth Neuropathy Type 4j 11
568 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 11
569 c DNM001 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 9
570 c CHR116 Charcot-Marie-Tooth Neuropathy Type 2e/1f 5
571 P CHR071 Charcot-Marie-Tooth Disease 65
572 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 51
573 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 42
574 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 41
575 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 40
576 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 39
577 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 39
578 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 37
579 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
580 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 36
581 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 35
582 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 34
583 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 34
584 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 34
585 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 33
586 c CHR135 Charcot-Marie-Tooth Disease Type 2a 31
587 c HRD138 Hereditary Motor and Sensory Neuropathy V 31
588 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 30
589 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 28
590 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 26
591 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
592 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 24
593 c CHR026 Charcot-Marie-Tooth Disease Type X 24
594 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 24
595 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 23
596 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 23
597 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 22
598 c CHR139 Charcot-Marie-Tooth Disease Type 2c 21
599 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 21
600 c CHR147 Charcot-Marie-Tooth Disease Type 2k 20
601 c CHR142 Charcot-Marie-Tooth Disease Type 2f 19
602 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
603 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 16
604 c CHR550 Charcot-Marie-Tooth Disease Type 2n 16
605 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
606 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
607 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 13
608 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
609 c CHR571 Charcot-Marie-Tooth Disease Type 5 12
610 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
611 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
612 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
613 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
614 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
615 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
616 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
617 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 7
618 MNK001 Menkes Disease 64
619 P SNG014 Singleton-Merten Syndrome 31
620 ZTT001 Zttk Syndrome 29
621 SLH001 Salih Myopathy 26
622 NCR015 Necrotizing Autoimmune Myopathy 24
623 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 21
624 c SNG012 Singleton-Merten Syndrome 2 19
625 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
626 UTR040 Uterine Ligament Adenocarcinoma 8
627 UTR012 Uterine Ligament Serous Adenocarcinoma 6
628 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
629 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
630 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
631 MTR007 Motor Peripheral Neuropathy 41
632 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
633 P DST101 Distal Hereditary Motor Neuropathies 26
634 MLN064 Melanoma of Soft Tissue 23
635 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 22
636 PRT108 Puerto Rican Infant Hypotonia Syndrome 21
637 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
638 FBR047 Fibromyalgia 66
639 SPN027 Spinal Stenosis 61
640 P MYS005 Myositis 61
641 P CMR001 Camurati-Engelmann Disease 61
642 CHL028 Childhood Type Dermatomyositis 59
643 P LMY004 Leiomyosarcoma 58
644 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 58
645 CRT033 Corticobasal Degeneration 58
646 P RHB003 Rhabdomyosarcoma 57
647 MYM001 Myoma 56
648 MSC072 Muscle Cancer 56
649 ODN023 Odontochondrodysplasia 56
650 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 55
651 ALV005 Alveolar Soft Part Sarcoma 54
652 PSD012 Pseudoachondroplasia 54
653 P PTT014 Pitt-Hopkins Syndrome 54
654 P NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 52
655 c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 52
656 c CHR095 Chronic Progressive External Ophthalmoplegia 47
657 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 46
658 P DMY001 Demyelinating Polyneuropathy 46
659 PYM001 Pyomyositis 45
660 MYP100 Myopathy, X-Linked, with Excessive Autophagy 45
661 BRD001 Brody Myopathy 45
662 SPS057 Spasticity 44
663 P HYP265 Hypotonia 43
664 c MLG147 Malignant Hyperthermia 1 41
665 SML014 Small Intestine Leiomyosarcoma 41
666 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 39
667 P ART106 Arterial Calcification, Generalized, of Infancy, 1 38
668 c MYG007 Myoglobinuria, Recurrent 38
669 c ADL027 Adult Dermatomyositis 38
670 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 38
671 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 37
672 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 37
673 c PTT029 Pitt-Hopkins-Like Syndrome 1 36
674 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 36
675 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 35
676 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 34
677 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 34
678 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 33
679 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 33
680 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 31
681 LNG023 Lung Leiomyosarcoma 30
682 c RHB023 Rhabdomyosarcoma, Embryonal, 1 29
683 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 29
684 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 28
685 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 28
686 c SNG011 Singleton-Merten Syndrome 1 27
687 c FML272 Familial Sick Sinus Syndrome 27
688 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 27
689 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 26
690 MTC036 Mitochondrial Membrane Protein-Associated Neurodegeneration 26
691 HYD030 Hydroxykynureninuria 25
692 c PTT030 Pitt-Hopkins-Like Syndrome 2 25
693 c SCK017 Sick Sinus Syndrome 1 25
694 c SCK014 Sick Sinus Syndrome 2 25
695 c INF065 Infantile Hypotonia 24
696 WND002 Wandering Spleen 24
697 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 23
698 c CMR006 Camurati-Engelmann Disease, Type 2 23
699 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 21
700 PLM104 Palmoplantar Keratoderma, Nagashima Type 20
701 c NML025 Nemaline Myopathy 8 19
702 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 19
703 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 18
704 c MYS010 Myostatin-Related Muscle Hypertrophy 18
705 c PTT042 Pitt-Hopkins-Like Syndrome 17
706 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 15
707 c RHB021 Rhabdomyosarcoma, Embryonal, 2 15
708 FLP002 Floppy Infant Syndrome 14
709 CLN012 Colon Leiomyosarcoma 14
710 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 13
711 c VRL025 Viral Myositis 13
712 PLM003 Pulmonary Vein Leiomyosarcoma 12
713 BLD037 Bile Duct Rhabdomyosarcoma 12
714 LRY014 Larynx Leiomyosarcoma 12
715 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 11
716 CNT030 Central Nervous System Leiomyosarcoma 10
717 BNL001 Bone Leiomyosarcoma 9
718 FLL007 Fallopian Tube Leiomyosarcoma 9
719 P VGN013 Vagina Botryoid Rhabdomyosarcoma 8
720 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
721 CNT021 Central Nervous System Rhabdomyosarcoma 7
722 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 6
723 MXD015 Mixed Type Rhabdomyosarcoma 5
724 P DYS154 Dystonia 65
725 c DYS056 Dystonia 12 54
726 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
727 PRN038 Prune Belly Syndrome 54
728 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
729 P MTC010 Mitochondrial Dna Depletion Syndrome 41
730 c DYS119 Dystonia 9 38
731 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
732 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
733 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
734 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
735 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
736 c HRD198 Hereditary Dystonia 32
737 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
738 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
739 c DYS059 Dystonia 16 31
740 c DYS146 Dystonia 24 29
741 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
742 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
743 c DYS162 Dystonia, Juvenile-Onset 27
744 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
745 c DYS145 Dystonia 23 27
746 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
747 c DYS151 Dystonia 25 24
748 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
749 c DYS172 Dystonia 27 23
750 c DYS138 Dystonia 21 22
751 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
752 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
753 c MTC014 Mitochondrial Dna Deletion Syndromes 15
754 c KMT002 Kmt2b-Related Dystonia 13
755 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
756 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
757 P HYP607 Hypercholesterolemia, Familial 81
758 P PRK057 Parkinson Disease, Late-Onset 76
759 c DPH024 Diaphragmatic Hernia, Congenital 65
760 P DRM010 Dermatomyositis 65
761 c LPD015 Lipodystrophy, Familial Partial, Type 2 60
762 CYS005 Cysticercosis 59
763 P CTS001 Cutis Laxa 58
764 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 56
765 MBS002 Moebius Syndrome 55
766 P EMB005 Embryonal Rhabdomyosarcoma 54
767 NRL004 Neuroleptic Malignant Syndrome 52
768 c MYP132 Myopathy, Congenital 52
769 P FML012 Familial Partial Lipodystrophy 52
770 c LPD021 Lipodystrophy, Familial Partial, Type 3 51
771 P INF049 Infantile Myofibromatosis 50
772 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 50
773 c ATS393 Autosomal Recessive Cutis Laxa Type I 50
774 c CTS045 Cutis Laxa, Autosomal Dominant 1 49
775 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 48
776 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 48
777 c HYP396 Hypercholesterolemia, Autosomal Recessive 47
778 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
779 c HYP734 Hypercholesterolemia, Autosomal Dominant, Type B 45
780 c LPD019 Lipodystrophy, Partial, Acquired 44
781 c LPD040 Lipodystrophy, Familial Partial, Type 1 43
782 TXC011 Toxocariasis 42
783 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 41
784 c ERL056 Early-Onset Parkinson's Disease 41
785 c MYF007 Myofibromatosis, Infantile, 1 40
786 P BTR001 Botryoid Rhabdomyosarcoma 40
787 c PRK025 Parkinson Disease 10 39
788 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 39
789 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 38
790 c PRK090 Parkinson Disease 3, Autosomal Dominant 38
791 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 37
792 VRT007 Vertical Talus, Congenital 36
793 c LPD034 Lipodystrophy, Familial Partial, Type 4 36
794 c PRK085 Parkinson Disease 1, Autosomal Dominant 36
795 SKL003 Skeletal Muscle Cancer 36
796 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 35
797 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 35
798 SKL002 Skeletal Muscle Neoplasm 35
799 c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 35
800 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 34
801 CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34
802 c HRD173 Hereditary Late-Onset Parkinson Disease 33
803 c PRK093 Parkinson Disease 8, Autosomal Dominant 33
804 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 32
805 c PRK071 Parkinson Disease 14, Autosomal Recessive 31
806 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 31
807 c ACQ027 Acquired Cutis Laxa 31
808 c CTS031 Cutis Laxa, Autosomal Dominant 2 29
809 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 28
810 c PRK065 Parkinson Disease 20, Early-Onset 27
811 c LPD036 Lipodystrophy, Familial Partial, Type 6 27
812 c CTS041 Cutis Laxa, Autosomal Dominant 3 27
813 c LPD044 Lipodystrophy, Familial Partial, Type 7 26
814 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 26
815 c PRK091 Parkinson Disease 4, Autosomal Dominant 26
816 c PRK081 Parkinson Disease 19a, Juvenile-Onset 26
817 c LPD030 Lipodystrophy, Familial Partial, Type 5 25
818 c PRK099 Parkinson Disease 18, Autosomal Dominant 25
819 c PRK052 Parkinson Disease 17 24
820 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 24
821 c PRK070 Parkinson Disease 21 23
822 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 23
823 c PRK008 Parkinson Disease Type 9 23
824 c JVN058 Juvenile-Onset Parkinson's Disease 23
825 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 23
826 c ATP003 Atp6v0a2-Related Cutis Laxa 22
827 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 21
828 c PRK094 Parkinson Disease 11, Autosomal Dominant 21
829 c PRK083 Parkinson Disease 22, Autosomal Dominant 20
830 c PRK096 Parkinson Disease 13, Autosomal Dominant 19
831 c PRK098 Parkinson Disease 5, Autosomal Dominant 19
832 c PRK022 Parkinson Disease 12 19
833 c PRK058 Parkinson Disease 16 18
834 c LRR001 Lrrk2-Related Parkinson Disease 18
835 c EFM001 Efemp2-Related Cutis Laxa 18
836 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 18
837 c MYF010 Myofibromatosis, Infantile, 2 17
838 c LTB003 Ltbp4-Related Cutis Laxa 17
839 CHL030 Childhood Botryoid Rhabdomyosarcoma 14
840 c FBL003 Fbln5-Related Cutis Laxa 9
841 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
842 c VPS003 Vps35-Related Parkinson Disease 6
843 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 64
844 c CRB193 Cerebral Amyloid Angiopathy, App-Related 45
845 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 38
846 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 38
847 P HRD084 Hereditary Cerebral Amyloid Angiopathy 29
848 KRN002 Kearns-Sayre Syndrome 63
849 P CNT056 Cantu Syndrome 50
850 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 8
851 c CNT094 Cantú Syndrome and Related Disorders 5



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