Muscle Diseases Category (733 diseases)


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

# Family MCID Name MIFTS
1 c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 58
2 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 39
3 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 66
4 c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 51
5 SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 63
6 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 56
7 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 26
8 c SPN393 Spinal Muscular Atrophy, Type I 50
9 c SPN395 Spinal Muscular Atrophy, Type Ii 45
10 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 62
11 c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44
12 c SPN398 Spinal Muscular Atrophy, Type Iv 35
13 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 60
14 OCL008 Oculopharyngeal Muscular Dystrophy 52
15 SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 16
16 P SPN046 Spinal Muscular Atrophy 63
17 MSC152 Muscular Dystrophy, Becker Type 60
18 P ULL002 Ullrich Congenital Muscular Dystrophy 1 54
19 P EMR001 Emery-Dreifuss Muscular Dystrophy 52
20 c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 58
21 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29
22 RGD003 Rigid Spine Muscular Dystrophy 1 62
23 c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 40
24 c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 40
25 c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 38
26 c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 42
27 c JVN006 Juvenile Spinal Muscular Atrophy 38
28 c CNG112 Congenital Muscular Dystrophy Type 1a 35
29 SPN402 Spinal Muscular Atrophy, X-Linked 2 31
30 c LM2001 Lama2-Related Muscular Dystrophy 19
31 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 49
32 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37
33 c SPN416 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, Autosomal Dominant 25
34 MSC157 Muscular Dystrophy, Duchenne Type 68
35 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 31
36 MSC012 Muscular Dystrophy, Duchenne and Becker Type 36
37 TBL009 Tibial Muscular Dystrophy 18
38 c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 37
39 P LMB006 Limb-Girdle Muscular Dystrophy 54
40 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49
41 c SPN394 Spinal Muscular Atrophy, Type Iii 45
42 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37
43 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 32
44 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32
45 c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 43
46 FKY002 Fukuyama Type Muscular Dystrophy 20
47 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 50
48 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 37
49 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 30
50 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 26
51 P NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 22
52 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 21
53 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 21
54 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 13
55 EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 12
56 c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 36
57 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 31
58 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43
59 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 24
60 P MSC005 Muscular Dystrophy 66
61 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 40
62 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39
63 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 43
64 CST006 Costocoracoid Ligament, Congenitally Short 14
65 c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 33
66 c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 31
67 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 22
68 c MSC161 Muscular Dystrophy, Limb-Girdle, Type 1c 35
69 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 24
70 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 23
71 P MYS033 Miyoshi Muscular Dystrophy 1 43
72 c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39
73 c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36
74 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
75 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 19
76 P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 29
77 c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 27
78 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 25
79 c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 30
80 c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 29
81 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28
82 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 27
83 c LMB047 Limb-Girdle Muscular Dystrophy, Type 1g 26
84 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 24
85 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 20
86 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17
87 c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 21
88 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 12
89 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 4
90 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 23
91 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 20
92 c PRG001 Progressive Muscular Atrophy 41
93 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 33
94 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 29
95 TBL022 Tibial Muscular Dystrophy, Tardive 22
96 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 22
97 c ATS133 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g 21
98 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 20
99 P LSS002 Lissencephaly 48
100 c LSS005 Lissencephaly 1 43
101 c LSS006 Lissencephaly 2 35
102 c LSS010 Lissencephaly 4 30
103 c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 30
104 c LSS025 Lissencephaly 5 24
105 c LSS009 Lissencephaly 3 22
106 c LSS035 Lissencephaly 8 21
107 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 19
108 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 18
109 BRW006 Brown Syndrome 27
110 c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 19
111 c MSC050 Muscular Dystrophy, Congenital, 1b 47
112 DST004 Distal Muscular Dystrophy 42
113 PRX014 Proximal Spinal Muscular Atrophy 41
114 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 37
115 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 31
116 c MYS014 Miyoshi Muscular Dystrophy 3 19
117 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 19
118 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 17
119 VCL008 Vacuolar Neuromyopathy 21
120 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 19
121 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 18
122 OCL023 Ocular Muscular Dystrophy 13
123 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 12
124 RND001 Round Ligament Malignant Neoplasm 8
125 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
126 OPH005 Ophthalmoplegic Muscular Dystrophy 3
127 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 32
128 SPN267 Spinal Muscular Atrophy, Jokela Type 25
129 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 21
130 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 19
131 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 18
132 P MYP004 Myopathy 68
133 c MYP132 Myopathy, Congenital 51
134 TNS001 Tenosynovial Giant Cell Tumor 38
135 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 34
136 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 23
137 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 22
138 c ULL003 Ullrich Congenital Muscular Dystrophy 2 17
139 c GNR020 Gne-Related Myopathy 17
140 c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 15
141 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 11
142 c BNG038 Benign Autosomal Dominant Myopathy 8
143 CLL037 Collagen Vi Related Muscular Dystrophy 7
144 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 53
145 P MYF003 Myofibrillar Myopathy 42
146 c MYP082 Myopathy, Myofibrillar, 2 38
147 c MYP078 Myopathy, Myofibrillar, 3 32
148 c MYP079 Myopathy, Myofibrillar, 5 31
149 WLN001 Welander Distal Myopathy 30
150 P MSC002 Muscular Dystrophy-Dystroglycanopathy 30
151 c MYP080 Myopathy, Myofibrillar, 4 29
152 c DYS067 Dystonia 6, Torsion 28
153 c MYP081 Myopathy, Myofibrillar, 6 25
154 P DYS068 Dystonia 7, Torsion 23
155 c MYP119 Myopathy, Myofibrillar, 7 23
156 MSC026 Muscular Dystrophy White Matter Spongiosis 22
157 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 22
158 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 22
159 c MYP118 Myopathy, Myofibrillar, 8 21
160 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 19
161 ATR076 Atrophic Muscular Disease 18
162 BRW002 Brown's Tendon Sheath Syndrome 18
163 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 17
164 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 14
165 c TRS005 Torsion Dystonia with Onset in Infancy 14
166 c TRS025 Torsion Dystonia 2 11
167 MSC158 Muscular Dystrophy, Scapulohumeral 11
168 CNG440 Congenital Muscular Alpha-Dystroglycanopathy with Brain and Eye Anomalies 10
169 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 10
170 c TRS027 Torsion Dystonia 4 9
171 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 8
172 BRD006 Broad Ligament Malignant Neoplasm 8
173 c TRS028 Torsion Dystonia 17 7
174 TND001 Tendon Sheath Lipoma 7
175 UTR041 Uterine Ligament Cancer 6
176 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 5
177 HYP235 Hypotonic Sclerotic Muscular Dystrophy 4
178 ART053 Arthrogryposis Spinal Muscular Atrophy 2
179 P PNT019 Pontocerebellar Hypoplasia 41
180 c PNT034 Pontocerebellar Hypoplasia, Type 2e 40
181 c PNT036 Pontocerebellar Hypoplasia, Type 6 40
182 c PNT049 Pontocerebellar Hypoplasia, Type 2d 40
183 c PNT018 Pontocerebellar Hypoplasia, Type 1b 37
184 c PNT045 Pontocerebellar Hypoplasia, Type 1a 33
185 c PNT037 Pontocerebellar Hypoplasia, Type 3 32
186 c PNT044 Pontocerebellar Hypoplasia, Type 2a 31
187 c PNT033 Pontocerebellar Hypoplasia, Type 10 31
188 c PNT043 Pontocerebellar Hypoplasia, Type 4 30
189 c PNT032 Pontocerebellar Hypoplasia, Type 9 29
190 c PNT046 Pontocerebellar Hypoplasia, Type 5 28
191 c PNT030 Pontocerebellar Hypoplasia, Type 8 25
192 c PNT039 Pontocerebellar Hypoplasia, Type 7 25
193 c PNT048 Pontocerebellar Hypoplasia, Type 2c 24
194 c PNT047 Pontocerebellar Hypoplasia, Type 2b 24
195 c PNT050 Pontocerebellar Hypoplasia, Type 11 23
196 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
197 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 10
198 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 8
199 P MSC033 Muscle Disorders 52
200 TNS014 Tenosynovitis 36
201 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 35
202 SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 17
203 EMR021 Emery-Dreifuss Syndrome 11
204 SPN387 Spinal Muscular Atrophy, Segmental 8
205 MSC031 Muscular Phosphorylase Kinase Deficiency 6
206 c AN5001 Ano5-Related Muscle Diseases 5
207 P CRN015 Cornelia De Lange Syndrome 64
208 P CNG411 Congenital Disorder of Glycosylation, Type in 62
209 P DST002 Distal Arthrogryposis 56
210 P MSC003 Muscular Atrophy 54
211 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
212 END021 Endomyocardial Fibrosis 51
213 c ART119 Arthrogryposis, Distal, Type 5 49
214 c ART120 Arthrogryposis, Distal, Type 3 48
215 P MYT023 Myotonia Congenita 48
216 c CRN139 Cornelia De Lange Syndrome 1 47
217 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
218 c ART061 Arthrogryposis, Distal, Type 2a 45
219 c ART144 Arthrogryposis, Distal, Type 1a 44
220 DYS064 Dystonia 3, Torsion, X-Linked 43
221 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
222 c ART146 Arthrogryposis, Distal, Type 9 41
223 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
224 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
225 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
226 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
227 c CNG379 Congenital Disorder of Glycosylation, Type It 34
228 c MYT027 Myotonia Congenita, Autosomal Dominant 33
229 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
230 c PNT035 Pontocerebellar Hypoplasia, Type 1c 30
231 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
232 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
233 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
234 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
235 c MYT029 Myotonia Congenita, Autosomal Recessive 30
236 c CNG188 Congenital Disorder of Glycosylation, Type if 30
237 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
238 ERL030 Early-Onset Generalized Limb-Onset Dystonia 29
239 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
240 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
241 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
242 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
243 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
244 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
245 c ART112 Arthrogryposis, Distal, Type 10 27
246 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
247 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
248 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
249 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
250 c ART104 Arthrogryposis, Distal, Type 5d 26
251 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
252 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
253 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
254 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
255 c CRN134 Cornelia De Lange Syndrome 2 26
256 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
257 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
258 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
259 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
260 c ART122 Arthrogryposis, Distal, Type 8 24
261 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
262 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
263 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
264 c CRN209 Cornelia De Lange Syndrome 5 23
265 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
266 c ART128 Arthrogryposis, Distal, Type 6 23
267 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
268 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
269 c CRN215 Cornelia De Lange Syndrome 4 22
270 c CRN135 Cornelia De Lange Syndrome 3 22
271 c ART131 Arthrogryposis, Distal, Type 4 22
272 PTL003 Patellar Tendinitis 21
273 ANT051 Anterior Cruciate Ligament Tears 21
274 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20
275 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20
276 c ART060 Arthrogryposis, Distal, Type 1b 20
277 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 19
278 PRT108 Puerto Rican Infant Hypotonia Syndrome 19
279 c ART054 Arthrogryposis, Distal, Type 2e 16
280 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 16
281 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 14
282 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 12
283 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
284 c DST092 Distal Hereditary Motor Neuropathy Type 7 11
285 c MYS019 Miyoshi Muscular Dystrophy 2 10
286 SPN396 Spinal Muscular Atrophy with Mental Retardation 10
287 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 10
288 MSC153 Muscular Dystrophy, Cardiac Type 10
289 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 10
290 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 10
291 MSC151 Muscular Hypertonia, Lethal 9
292 MSC144 Muscular Atrophy, Malignant Neurogenic 9
293 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
294 HYP751 Hypertrophia Musculorum Vera 9
295 MSC145 Muscular Dystrophy, Barnes Type 8
296 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
297 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
298 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 8
299 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
300 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
301 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
302 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
303 MST003 Masters-Allen Syndrome 7
304 TBL002 Tibial Collateral Ligament Bursitis 7
305 MSC155 Muscular Dystrophy, Mabry Type 6
306 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 6
307 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 5
308 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
309 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 5
310 UTR013 Uterine Ligament Papillary Cystadenoma 4
311 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
312 FBL001 Fibular Collateral Ligament Bursitis 4
313 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 2
314 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 2
315 P DYS154 Dystonia 64
316 P RHB003 Rhabdomyosarcoma 56
317 P MTC133 Mitochondrial Myopathy 54
318 P SCK002 Sick Sinus Syndrome 53
319 c DYS056 Dystonia 12 51
320 PNN001 Panniculitis 49
321 P BLP003 Blepharospasm 46
322 P MTC004 Mitochondrial Encephalomyopathy 43
323 MYF002 Myofascial Pain Syndrome 43
324 PLM030 Pleomorphic Rhabdomyosarcoma 42
325 DPH021 Diaphragm Disease 41
326 TND005 Tendinitis 41
327 c DYS146 Dystonia 24 40
328 MYS001 Myositis Ossificans 39
329 MSC004 Muscle Tissue Disease 39
330 SMT002 Smooth Muscle Tumor 38
331 c MYG007 Myoglobinuria, Recurrent 38
332 P MYG005 Myoglobinuria 37
333 MYT003 Myotonic Disease 37
334 CLC004 Calcific Tendinitis 37
335 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 36
336 FCL049 Focal Hand Dystonia 36
337 c BLP048 Blepharospasm, Benign Essential 36
338 MYS002 Myositis Fibrosa 35
339 OCL066 Oculogyric Crisis 34
340 c NML004 Nemaline Myopathy 3 33
341 c DYS119 Dystonia 9 33
342 SNT005 Sinoatrial Node Disease 33
343 SPN009 Spindle Cell Rhabdomyosarcoma 32
344 ORM002 Oromandibular Dystonia 32
345 DPH006 Diaphragmatic Eventration 31
346 c NML003 Nemaline Myopathy 2 31
347 c NML002 Nemaline Myopathy 1 31
348 c NML005 Nemaline Myopathy 4 31
349 CNT009 Central Core Myopathy 31
350 ANS018 Anismus 31
351 EPT011 Epithelioid Leiomyosarcoma 30
352 c MTC116 Mitochondrial Myopathy, Infantile, Transient 29
353 c HRD198 Hereditary Dystonia 29
354 c INF031 Inflammatory Leiomyosarcoma 29
355 PRS043 Prostate Rhabdomyosarcoma 29
356 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 27
357 CNG032 Congenital Structural Myopathy 27
358 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 27
359 c DYS162 Dystonia, Juvenile-Onset 27
360 c DYS059 Dystonia 16 26
361 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 26
362 GRN036 Granulomatous Myositis 26
363 PRS032 Prostate Leiomyosarcoma 26
364 P SCP010 Scapuloperoneal Myopathy 25
365 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 25
366 c FML272 Familial Sick Sinus Syndrome 25
367 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 25
368 CNV006 Conventional Leiomyosarcoma 24
369 c SVR040 Severe Congenital Nemaline Myopathy 24
370 MYX006 Myxoid Leiomyosarcoma 24
371 MYB001 Myoblastoma 24
372 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 23
373 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 23
374 c SCK014 Sick Sinus Syndrome 2 23
375 c NML007 Nemaline Myopathy 6 23
376 c DYS145 Dystonia 23 22
377 c SCK017 Sick Sinus Syndrome 1 22
378 UTR042 Uterus Leiomyosarcoma 22
379 c DYS151 Dystonia 25 22
380 c NML022 Nemaline Myopathy 10 21
381 c NML024 Nemaline Myopathy 11, Autosomal Recessive 21
382 c INT274 Intermediate Congenital Nemaline Myopathy 21
383 PLM004 Pulmonary Artery Leiomyosarcoma 21
384 c DYS138 Dystonia 21 21
385 c NML010 Nemaline Myopathy 7 21
386 c NML025 Nemaline Myopathy 8 21
387 MYP038 Myopathy, Congenital, Compton-North 20
388 SPS134 Spasmodic Dystonia 20
389 c NML021 Nemaline Myopathy 9 20
390 c DYS172 Dystonia 27 20
391 EPD011 Epidemic Pleurodynia 19
392 c ADL068 Adult-Onset Nemaline Myopathy 17
393 c SCK022 Sick Sinus Syndrome 3 17
394 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 14
395 MYP005 Myopathy of Extraocular Muscle 14
396 c MYG006 Myoglobinuria, Autosomal Dominant 14
397 BCP001 Bicipital Tenosynovitis 13
398 GLL014 Gallbladder Rhabdomyosarcoma 9
399 SPR003 Superior Vena Cava Leiomyosarcoma 9
400 GRN012 Granular Cell Leiomyosarcoma 9
401 OVR035 Ovary Leiomyosarcoma 9
402 GLL016 Gallbladder Leiomyosarcoma 9
403 RCT016 Rectum Leiomyosarcoma 9
404 c KMT002 Kmt2b-Related Dystonia 8
405 TST011 Testis Rhabdomyosarcoma 8
406 RCT012 Rectum Rhabdomyosarcoma 8
407 MDS008 Mediastinum Rhabdomyosarcoma 7
408 OVR023 Ovary Rhabdomyosarcoma 7
409 MDS017 Mediastinum Leiomyosarcoma 7
410 ANS008 Anus Rhabdomyosarcoma 7
411 ANS009 Anus Leiomyosarcoma 7
412 c ADL031 Adult Botryoid Rhabdomyosarcoma 6
413 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
414 TNS002 Tenosynovitis of Foot and Ankle 5
415 UTR023 Uterine Corpus Epithelioid Leiomyosarcoma 4
416 UTR021 Uterine Corpus Myxoid Leiomyosarcoma 4
417 STR082 Striated Muscle Rhabdoid Tumor 4
418 TBL004 Tibialis Tendinitis 3
419 c MYG002 Myoglobinuria Dominant Form 3
420 PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 28
421 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 28
422 WLK001 Walker-Warburg Syndrome 59
423 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 54
424 AMY098 Amyotrophy, Monomelic 34
425 SPN400 Spinal Muscular Atrophy, Type I, with Congenital Bone Fractures 21
426 c MYP072 Myopathy, Myofibrillar, 1 43
427 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 28
428 SCP002 Scapuloperoneal Spinal Muscular Atrophy 29
429 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
430 c DST030 Distal Hereditary Motor Neuropathy, Type V 20
431 c CNG012 Congenital Generalized Lipodystrophy 50
432 P ACQ022 Acquired Generalized Lipodystrophy 44
433 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 35
434 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 32
435 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 31
436 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27
437 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27
438 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 26
439 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25
440 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 25
441 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 23
442 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 22
443 ADP007 Adie Pupil 41
444 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 22
445 P BTH005 Bethlem Myopathy 1 52
446 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 28
447 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 25
448 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25
449 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 25
450 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23
451 c BTH006 Bethlem Myopathy 2 19
452 DSM004 Desmoid Tumor 62
453 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 33
454 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 25
455 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24
456 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 23
457 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 19
458 c CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 44
459 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 38
460 P XLN110 X-Linked Charcot-Marie-Tooth Disease 36
461 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 35
462 c ART147 Arthrogryposis, Distal, Type 7 34
463 ERL046 Early-Onset Generalized Dystonia 32
464 c DST027 Distal Hereditary Motor Neuropathy, Type Ii 31
465 MDN008 Median Arcuate Ligament Syndrome 31
466 P DST101 Distal Hereditary Motor Neuropathies 28
467 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 27
468 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 24
469 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 22
470 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 20
471 PST020 Postpoliomyelitis Syndrome 41
472 DQR001 De Quervain Disease 35
473 HRD038 Harding Ataxia 9
474 MNK001 Menkes Disease 63
475 CNT105 Central Core Disease of Muscle 56
476 PGM001 Pigmented Villonodular Synovitis 53
477 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 48
478 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 47
479 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 36
480 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 36
481 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 33
482 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 33
483 ADR023 Adrenomyodystrophy 33
484 SLH001 Salih Myopathy 25
485 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 19
486 KCH001 Kocher-Debre-Semelaigne Syndrome 14
487 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
488 c GLY008 Glycogen Storage Disease Ii 64
489 P GLY013 Glycogen Storage Disease 61
490 c GLY060 Glycogen Storage Disease Ia 57
491 c GLY003 Glycogen Storage Disease Iii 55
492 c GLY004 Glycogen Storage Disease V 54
493 P INF016 Infantile Epileptic Encephalopathy 54
494 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
495 c GLY007 Glycogen Storage Disease Iv 51
496 c GLY005 Glycogen Storage Disease Vi 51
497 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
498 c GLY011 Glycogen Storage Disease Vii 48
499 P TRT019 Torticollis 46
500 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
501 c GLY098 Glycogen Storage Disease, Type Ixd 40
502 MTR007 Motor Peripheral Neuropathy 40
503 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
504 c GLY016 Glycogen Storage Disease Ib 35
505 c PNT010 Pontocerebellar Hypoplasia Type 1 35
506 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
507 c GLY023 Glycogen Storage Disease Type 0 34
508 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
509 c GLY044 Glycogen Storage Disease Ixc 31
510 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
511 c GLY057 Glycogen Storage Disease X 29
512 c GLY017 Glycogen Storage Disease Ic 28
513 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
514 c GLY043 Glycogen Storage Disease Xii 27
515 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
516 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
517 c GLY097 Glycogen Storage Disease Ixb 26
518 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
519 c GLY009 Glycogen Storage Disease Xv 26
520 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
521 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
522 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
523 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
524 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
525 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
526 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
527 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
528 c CNG129 Congenital Torticollis 22
529 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
530 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
531 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
532 c GLY059 Glycogen Storage Disease Xiii 22
533 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
534 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
535 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
536 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
537 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
538 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
539 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
540 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
541 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
542 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
543 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
544 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
545 c GLY006 Glycogen Storage Disease Viii 20
546 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
547 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
548 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
549 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
550 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
551 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
552 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
553 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
554 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
555 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
556 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
557 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
558 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
559 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
560 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
561 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
562 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
563 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
564 c GLY093 Glycogen Storage Disease Ixa 17
565 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
566 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
567 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
568 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
569 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
570 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
571 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
572 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
573 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
574 c GLY001 Glycogen Storage Disease Ix 12
575 JNK001 Jankovic Rivera Syndrome 10
576 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 9
577 c INF166 Infantile Epileptic Encephalopathy 55 9
578 c INF169 Infantile Epileptic Encephalopathy 59 9
579 c INF165 Infantile Epileptic Encephalopathy 56 8
580 c INF167 Infantile Epileptic Encephalopathy 57 8
581 c INF168 Infantile Epileptic Encephalopathy 58 8
582 BSS002 Bassoe Syndrome 7
583 c TRT007 Torticollis, Familial 7
584 ADD003 Adducted Thumbs Dundar Type 6
585 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
586 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
587 UTR012 Uterine Ligament Serous Adenocarcinoma 5
588 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
589 UTR040 Uterine Ligament Adenocarcinoma 5
590 c MYT021 Myotonic Dystrophy 1 68
591 INC002 Inclusion Body Myositis 63
592 P MYS005 Myositis 63
593 c DPH024 Diaphragmatic Hernia, Congenital 63
594 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
595 c RHB024 Rhabdomyosarcoma 2 58
596 P MSC007 Muscle Hypertrophy 58
597 P LMY004 Leiomyosarcoma 58
598 c MYT020 Myotonic Dystrophy 2 56
599 MYM001 Myoma 55
600 MSC072 Muscle Cancer 53
601 P CNT004 Centronuclear Myopathy 53
602 P MYT002 Myotonic Dystrophy 50
603 P MYP087 Myopathy, Tubular Aggregate, 1 49
604 CNG046 Congenital Fiber-Type Disproportion 48
605 P NML001 Nemaline Myopathy 47
606 FCL022 Focal Dystonia 47
607 NDL003 Nodular Nonsuppurative Panniculitis 46
608 PYM001 Pyomyositis 45
609 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 45
610 MYP100 Myopathy, X-Linked, with Excessive Autophagy 44
611 c CHR095 Chronic Progressive External Ophthalmoplegia 43
612 P RPP006 Rippling Muscle Disease 2 42
613 CRV043 Cervical Dystonia 41
614 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 41
615 c ADL027 Adult Dermatomyositis 40
616 c MYP123 Myopathy, Centronuclear, 1 39
617 SML014 Small Intestine Leiomyosarcoma 39
618 MYP094 Myopathy, Spheroid Body 38
619 BRD001 Brody Myopathy 38
620 c MYP131 Myopathy, Centronuclear, 2 35
621 CRN225 Cranio-Facial Dystonia 32
622 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 30
623 RDC010 Reducing Body Myopathy 30
624 c NML006 Nemaline Myopathy 5 26
625 LNG023 Lung Leiomyosarcoma 23
626 c MYP088 Myopathy, Tubular Aggregate, 2 22
627 c MYP148 Myopathy, Centronuclear, 5 21
628 c MYP098 Myopathy, Centronuclear, 4 20
629 c MYP096 Myopathy, Centronuclear, 3 18
630 PRS010 Prostate Embryonal Rhabdomyosarcoma 18
631 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 17
632 c DPH016 Diaphragmatic Hernia 3 16
633 c RPP007 Rippling Muscle Disease 1 16
634 c MYS010 Myostatin-Related Muscle Hypertrophy 14
635 c DPH025 Diaphragmatic Hernia 2 14
636 c BCT018 Bacterial Myositis 13
637 CLN012 Colon Leiomyosarcoma 12
638 c VRL025 Viral Myositis 12
639 LRY014 Larynx Leiomyosarcoma 12
640 PLM003 Pulmonary Vein Leiomyosarcoma 10
641 P HRN027 Hernia, Anterior Diaphragmatic 10
642 VGN011 Vagina Leiomyosarcoma 9
643 BLD037 Bile Duct Rhabdomyosarcoma 8
644 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
645 P TTL001 Total Internal Ophthalmoplegia 8
646 CNT021 Central Nervous System Rhabdomyosarcoma 7
647 CYL003 Cylindrical Spirals Myopathy 7
648 P VGN013 Vagina Botryoid Rhabdomyosarcoma 6
649 CNT030 Central Nervous System Leiomyosarcoma 6
650 MXD015 Mixed Type Rhabdomyosarcoma 5
651 FLL007 Fallopian Tube Leiomyosarcoma 5
652 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
653 ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 69
654 MSC077 Muscle Eye Brain Disease 50
655 P CHR071 Charcot-Marie-Tooth Disease 65
656 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 41
657 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 40
658 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 38
659 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 38
660 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 38
661 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 37
662 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 37
663 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 37
664 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 34
665 c CHR135 Charcot-Marie-Tooth Disease Type 2a 30
666 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 29
667 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 27
668 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 26
669 c CHR622 Charcot-Marie-Tooth Disease Type 2a2 23
670 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 23
671 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 23
672 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 22
673 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 21
674 c CHR549 Charcot-Marie-Tooth Disease Type 2l 18
675 c CHR139 Charcot-Marie-Tooth Disease Type 2c 17
676 c CHR147 Charcot-Marie-Tooth Disease Type 2k 17
677 c CHR142 Charcot-Marie-Tooth Disease Type 2f 16
678 c CHR143 Charcot-Marie-Tooth Disease Type 2g 15
679 c CHR550 Charcot-Marie-Tooth Disease Type 2n 14
680 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 14
681 c ATS261 Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 14
682 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
683 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 12
684 c CHR553 Charcot-Marie-Tooth Disease Type 2q 12
685 c CHR551 Charcot-Marie-Tooth Disease Type 2o 11
686 c PMP012 Pmp2-Related Charcot-Marie-Tooth Disease Type 1 10
687 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 10
688 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 10
689 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 10
690 c CHR571 Charcot-Marie-Tooth Disease Type 5 10
691 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 9
692 c CHR572 Charcot-Marie-Tooth Disease Type 7 8
693 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 25
694 QZM001 Qazi Markouizos Syndrome 13
695 c HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 39
696 P SNG014 Singleton-Merten Syndrome 31
697 P NRP059 Neuropathy, Hereditary Motor and Sensory, Type Via 31
698 c SNG011 Singleton-Merten Syndrome 1 27
699 c HRD138 Hereditary Motor and Sensory Neuropathy V 26
700 ZTT001 Zttk Syndrome 25
701 c NRP043 Neuropathy, Hereditary Motor and Sensory, Type Vib 25
702 NCR015 Necrotizing Autoimmune Myopathy 22
703 c SNG012 Singleton-Merten Syndrome 2 18
704 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 12
705 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 6
706 MLN064 Melanoma of Soft Tissue 22
707 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 21
708 P TMP003 Temporal Arteritis 66
709 P DRM010 Dermatomyositis 64
710 CHL028 Childhood Type Dermatomyositis 56
711 ALV005 Alveolar Soft Part Sarcoma 55
712 P EMB005 Embryonal Rhabdomyosarcoma 55
713 SKL003 Skeletal Muscle Cancer 35
714 c RHB023 Rhabdomyosarcoma, Embryonal, 1 27
715 c JVN019 Juvenile Temporal Arteritis 23
716 c RHB021 Rhabdomyosarcoma, Embryonal, 2 16
717 CHL030 Childhood Botryoid Rhabdomyosarcoma 13
718 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
719 MTC016 Mitochondrial Neurogastrointestinal Encephalopathy Disease 30
720 P LYM025 Lymphedema 63
721 KRN002 Kearns-Sayre Syndrome 60
722 CYS005 Cysticercosis 56
723 c LYM130 Lymphedema, Hereditary, Ii 56
724 c LYM110 Lymphedema, Hereditary, Ia 38
725 c CNG439 Congenital Lymphedema 38
726 c HRD007 Hereditary Lymphedema 37
727 P BTR001 Botryoid Rhabdomyosarcoma 32
728 c LYM128 Lymphedema, Hereditary, Iii 26
729 c LYM109 Lymphedema, Hereditary, Id 20
730 c LYM057 Lymphedema, Hereditary, Ic 19
731 c LYM059 Lymphedema, Hereditary, Ib 14
732 c LYM135 Lymphedema, Congenital Recessive 12
733 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7



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