Muscle Diseases Category (1950 diseases)


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

# Family MCID Name MIFTS
1 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 58
2 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 55
3 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 43
4 c SPN395 Spinal Muscular Atrophy, Type Ii 49
5 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 43
6 c SPN393 Spinal Muscular Atrophy, Type I 55
7 c SPN394 Spinal Muscular Atrophy, Type Iii 52
8 P SPN046 Spinal Muscular Atrophy 62
9 c SPN398 Spinal Muscular Atrophy, Type Iv 43
10 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 60
11 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 58
12 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 46
13 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 48
14 c SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 33
15 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 44
16 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 46
17 c PRG001 Progressive Muscular Atrophy 46
18 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 34
19 c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 33
20 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 32
21 P SPN460 Spinal Muscular Atrophy with Lower Extremity Predominant 31
22 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 41
23 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 39
24 GLY061 Glycogen Storage Disease 0, Muscle 33
25 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 6
26 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 38
27 c GLY008 Glycogen Storage Disease Ii 72
28 c GLY060 Glycogen Storage Disease Ia 66
29 c GLY003 Glycogen Storage Disease Iii 65
30 c GLY007 Glycogen Storage Disease Iv 64
31 c GLY005 Glycogen Storage Disease Vi 59
32 c GLY011 Glycogen Storage Disease Vii 57
33 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 50
34 c GLY115 Glycogen Storage Disease Ixd 48
35 c GLY016 Glycogen Storage Disease Ib 46
36 c GLY044 Glycogen Storage Disease Ixc 43
37 c GLY043 Glycogen Storage Disease Xii 37
38 c GLY006 Glycogen Storage Disease Viii 36
39 c GLY017 Glycogen Storage Disease Ic 32
40 c GLY093 Glycogen Storage Disease Ixa 28
41 c GLY001 Glycogen Storage Disease Ix 23
42 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 39
43 DCH002 Duchenne and Becker Muscular Dystrophy 37
44 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 37
45 P SCP010 Scapuloperoneal Myopathy 32
46 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 23
47 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 33
48 P RGD004 Rigid Spine Muscular Dystrophy 22
49 c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 56
50 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 37
51 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 33
52 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 29
53 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29
54 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29
55 c GLY004 Glycogen Storage Disease V 65
56 c GLY059 Glycogen Storage Disease Xiii 29
57 AMY098 Amyotrophy, Monomelic 36
58 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 30
59 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 40
60 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 35
61 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 32
62 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 29
63 SCP002 Scapuloperoneal Spinal Muscular Atrophy 56
64 FBR094 Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement 34
65 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 34
66 c FBR050 Fibrosis of Extraocular Muscles, Congenital, 2 29
67 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 24
68 ACN028 Acanthosis Nigricans with Muscle Cramps and Acral Enlargement 19
69 SPN267 Spinal Muscular Atrophy, Jokela Type 35
70 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 34
71 TKL001 Tukel Syndrome 26
72 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 23
73 CST006 Costocoracoid Ligament, Congenitally Short 14
74 FBR011 Fibrodysplasia Ossificans Progressiva 69
75 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 46
76 MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 45
77 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 41
78 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 34
79 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 30
80 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 27
81 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
82 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 52
83 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 39
84 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 29
85 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 34
86 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 33
87 P LMN012 Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 30
88 P CLP009 Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 29
89 c LSS025 Lissencephaly 5 39
90 BRW006 Brown Syndrome 28
91 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 27
92 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 24
93 GLT037 Gluteal Muscles, Absence of 15
94 c CNG012 Congenital Generalized Lipodystrophy 65
95 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 59
96 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 54
97 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 46
98 P ACQ022 Acquired Generalized Lipodystrophy 46
99 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 38
100 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 29
101 CRB160 Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes 27
102 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 19
103 ADP007 Adie Pupil 40
104 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 32
105 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 25
106 CRD256 Cardiac Arrhythmia Syndrome, with or Without Skeletal Muscle Weakness 24
107 c FBR078 Fibrosis of Extraocular Muscles, Congenital, 5 20
108 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 18
109 APL029 Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy 17
110 TNS001 Tenosynovial Giant Cell Tumor 55
111 P CNG047 Congenital Fibrosis of the Extraocular Muscles 48
112 PST020 Postpoliomyelitis Syndrome 46
113 c GLY057 Glycogen Storage Disease X 38
114 WLN001 Welander Distal Myopathy 37
115 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 34
116 TBL022 Tibial Muscular Dystrophy, Tardive 33
117 CHL155 Childhood Spinal Muscular Atrophy 32
118 RPP004 Rippling Muscle Disease with Myasthenia Gravis 13
119 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 8
120 c SPN461 Spinal Muscular Atrophy with Lower Extremity Predominant 2a 6
121 HYP052 Hyperkalemic Periodic Paralysis 63
122 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47
123 c CRS016 Crisponi/cold-Induced Sweating Syndrome 1 43
124 P PRX014 Proximal Spinal Muscular Atrophy 35
125 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 26
126 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 25
127 c TRS025 Torsion Dystonia 2 25
128 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 25
129 c DYS068 Dystonia 7, Torsion 24
130 c TRS027 Torsion Dystonia 4 24
131 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 20
132 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 14
133 P TRS005 Torsion Dystonia with Onset in Infancy 14
134 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 14
135 P CLD004 Cold-Induced Sweating Syndrome Including Crisponi Syndrome 14
136 c SPN463 Spinal Muscular Atrophy with Lower Extremity Predominant 1 9
137 c SPN462 Spinal Muscular Atrophy with Lower Extremity Predominant 2b 6
138 c TRS028 Torsion Dystonia 17 5
139 DSM004 Desmoid Tumor 67
140 MSC007 Muscle Hypertrophy 59
141 MYT030 Myotonia, Potassium-Aggravated 46
142 c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 42
143 CYC001 Cycloplegia 41
144 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 29
145 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 25
146 c SPN444 Spinal Muscular Atrophy Type 0 23
147 P TRT019 Torticollis 50
148 MDN008 Median Arcuate Ligament Syndrome 36
149 DYT002 Dyt1 Early-Onset Isolated Dystonia 34
150 c CNG129 Congenital Torticollis 25
151 SPN447 Spinal Muscular Atrophy, Infantile, James Type 24
152 c MSC202 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 22
153 c MSC199 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 20
154 MXD017 Mixed Endometrial Stromal and Smooth Muscle Tumor 19
155 c FBR081 Fibrosis of Extraocular Muscles, Congenital, 3c 17
156 c FCS017 Facioscapulohumeral Muscular Dystrophy 4, Digenic 17
157 c FCS016 Facioscapulohumeral Muscular Dystrophy 3, Digenic 16
158 SKL034 Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus 14
159 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 13
160 TND001 Tendon Sheath Lipoma 10
161 HMN015 Hamanishi Ueba Tsuji Syndrome 9
162 UTR041 Uterine Ligament Cancer 7
163 PRM057 Paramyotonia Congenita of Von Eulenburg 61
164 P DYS193 Dystonia 11, Myoclonic 54
165 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 47
166 c MYT029 Myotonia Congenita, Autosomal Recessive 46
167 c PNT045 Pontocerebellar Hypoplasia, Type 1a 45
168 c DYS175 Dystonia 26, Myoclonic 28
169 MYP114 Myopathy, Scapulohumeroperoneal 26
170 VCL008 Vacuolar Neuromyopathy 24
171 BRW002 Brown's Tendon Sheath Syndrome 23
172 MSC201 Muscular Dystrophy, Congenital Hearing Loss, and Ovarian Insufficiency Syndrome 21
173 c DYS220 Dystonia 34, Myoclonic 20
174 MSC158 Muscular Dystrophy, Scapulohumeral 19
175 c DYS058 Dystonia 15, Myoclonic 19
176 MST022 Masticatory Muscles, Hypertrophy of 19
177 KCH001 Kocher-Debre-Semelaigne Syndrome 14
178 c LMN013 Laminin Subunit Alpha 2-Related Muscular Dystrophy 13
179 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 10
180 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
181 c CLP008 Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 6
182 LMN014 Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 4
183 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 3
184 P CTS001 Cutis Laxa 57
185 c CTS045 Cutis Laxa, Autosomal Dominant 1 57
186 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 52
187 BRS064 Bursitis 51
188 DYS064 Dystonia 3, Torsion, X-Linked 51
189 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 48
190 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 47
191 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 47
192 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 47
193 c ATS393 Autosomal Recessive Cutis Laxa Type I 46
194 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 45
195 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 45
196 P MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 44
197 P CLD003 Cold-Induced Sweating Syndrome 43
198 c CTS041 Cutis Laxa, Autosomal Dominant 3 42
199 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 39
200 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 39
201 DYS030 Dysferlinopathy 38
202 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 36
203 c ATP003 Atp6v0a2-Related Cutis Laxa 35
204 c CTS031 Cutis Laxa, Autosomal Dominant 2 35
205 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 32
206 c CTS048 Cutis Laxa, Autosomal Recessive, Type Iie 31
207 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 30
208 c ULL003 Ullrich Congenital Muscular Dystrophy 2 29
209 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 25
210 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
211 c CLD017 Cold-Induced Sweating Syndrome 3 22
212 c SPN465 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 22
213 CNG248 Congenital Smooth Muscle Hamartoma 20
214 c ACQ027 Acquired Cutis Laxa 20
215 c LTB003 Ltbp4-Related Cutis Laxa 19
216 c FBL003 Fbln5-Related Cutis Laxa 18
217 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 15
218 c ELN002 Eln-Related Cutis Laxa 14
219 c EFM001 Efemp2-Related Cutis Laxa 13
220 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 13
221 CMR005 Camera-Marugo-Cohen Syndrome 13
222 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 12
223 SPN387 Spinal Muscular Atrophy, Segmental 8
224 c KLH009 Klhl7-Related Cold-Induced Sweating-Like Syndrome 6
225 CHL130 Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome 5
226 c NRC009 Narcolepsy 1 54
227 P MRN003 Marinesco-Sjogren Syndrome 53
228 PGM001 Pigmented Villonodular Synovitis 50
229 ENT004 Enthesopathy 48
230 c MYS062 Myasthenic Syndrome, Congenital, 2a, Slow-Channel 46
231 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 42
232 SPS057 Spasticity 42
233 MYS054 Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency 41
234 c NRC010 Narcolepsy 2 41
235 ERL030 Early-Onset Generalized Limb-Onset Dystonia 38
236 c MYS070 Myasthenic Syndrome, Congenital, 19 36
237 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 36
238 c MYF007 Myofibromatosis, Infantile, 1 36
239 c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 36
240 c MYS048 Myasthenic Syndrome, Congenital, 3a, Slow-Channel 35
241 MYP067 Myopathy, Distal, Tateyama Type 33
242 c MYS065 Myasthenic Syndrome, Congenital, 18 30
243 MYP149 Myopathy, Mitochondrial, and Ataxia 30
244 MYS063 Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency 29
245 SRC011 Sarcocystosis 28
246 ATM005 Autoimmune Disease of Musculoskeletal System 28
247 MTC025 Mitochondrial Myopathy with Diabetes 27
248 ACC002 Accommodative Spasm 26
249 c MYP116 Myopathy, Distal, 5 26
250 FCL041 Focal Myositis 26
251 CYL001 Cayler Cardiofacial Syndrome 25
252 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 24
253 c NRC017 Narcolepsy 7 22
254 c ERL063 Early-Onset Isolated Dystonia 21
255 MYS050 Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency 21
256 c ATS425 Autosomal Recessive Distal Hereditary Motor Neuronopathy 20
257 LVT001 Levator Syndrome 20
258 P ISL135 Isolated Dystonia 20
259 MYP161 Myopathy, Congenital Proximal, with Minicore Lesions 18
260 c NRC011 Narcolepsy 3 18
261 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 14
262 HRD222 Hereditary Continuous Muscle Fiber Activity 14
263 INT305 Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome 14
264 c NRC012 Narcolepsy 4 14
265 RPT005 Repetitive Motion Disorders 13
266 c NRC018 Narcolepsy 6 13
267 c NRC013 Narcolepsy 5 13
268 MST003 Masters-Allen Syndrome 11
269 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 10
270 PLV002 Pelvic Muscle Wasting 8
271 c MRN006 Marinesco-Sjogren-Like Syndrome 6
272 UTR060 Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease 5
273 CNG493 Congenital Generalized Hypercontractile Muscle Stiffness Syndrome 5
274 MSC031 Muscular Phosphorylase Kinase Deficiency 5
275 c CNG411 Congenital Disorder of Glycosylation, Type in 67
276 c LNG044 Long Qt Syndrome 1 67
277 P CRN015 Cornelia De Lange Syndrome 66
278 P LNG028 Long Qt Syndrome 63
279 P EPL198 Epilepsy, Myoclonic Juvenile 62
280 c CRN139 Cornelia De Lange Syndrome 1 62
281 c CNG415 Congenital Disorder of Glycosylation, Type Ia 61
282 INT146 Intervertebral Disc Disease 61
283 HYP706 Hypermobile Ehlers-Danlos Syndrome 60
284 c CNG389 Congenital Disorder of Glycosylation, Type Iim 59
285 P INF049 Infantile Myofibromatosis 57
286 c MYS051 Myasthenic Syndrome, Congenital, 5 56
287 c CNG191 Congenital Disorder of Glycosylation, Type Iia 52
288 c CNG203 Congenital Disorder of Glycosylation, Type Iii 52
289 c CNG208 Congenital Disorder of Glycosylation, Type Iic 51
290 c CNG190 Congenital Disorder of Glycosylation, Type Iib 49
291 c CNG199 Congenital Disorder of Glycosylation, Type Im 49
292 c CNG201 Congenital Disorder of Glycosylation, Type Iij 48
293 c CNG209 Congenital Disorder of Glycosylation, Type Iif 48
294 c FML191 Familial Long Qt Syndrome 48
295 P CRY038 Carey-Fineman-Ziter Syndrome 1 48
296 c CNG383 Congenital Disorder of Glycosylation, Type Iik 47
297 c CRN134 Cornelia De Lange Syndrome 2 47
298 c CNG498 Congenital Disorder of Glycosylation, Type Iin 47
299 c LNG050 Long Qt Syndrome 5 47
300 c CNG414 Congenital Disorder of Glycosylation, Type Iil 47
301 c CNG204 Congenital Disorder of Glycosylation, Type Iih 47
302 c CNG185 Congenital Disorder of Glycosylation, Type Iig 46
303 c CNG194 Congenital Disorder of Glycosylation, Type Ig 46
304 c LNG051 Long Qt Syndrome 6 45
305 c CNG197 Congenital Disorder of Glycosylation, Type Ih 45
306 c CNG189 Congenital Disorder of Glycosylation, Type Ib 45
307 c CNG196 Congenital Disorder of Glycosylation, Type Ic 45
308 c LNG053 Long Qt Syndrome 9 44
309 c FML363 Familial Adult Myoclonic Epilepsy 44
310 c CNG187 Congenital Disorder of Glycosylation, Type Iid 44
311 c LNG098 Long Qt Syndrome 14 44
312 c LNG096 Long Qt Syndrome 15 43
313 c SPS130 Spastic Paraplegia 43, Autosomal Recessive 43
314 c MYC083 Myoclonic Epilepsy, Familial Infantile 43
315 c CNG198 Congenital Disorder of Glycosylation, Type Il 42
316 c CNG497 Congenital Disorder of Glycosylation, Type Iio 42
317 c LNG056 Long Qt Syndrome 12 42
318 c DYS067 Dystonia 6, Torsion 42
319 c LNG057 Long Qt Syndrome 13 42
320 c LNG046 Long Qt Syndrome 11 42
321 c CNG504 Congenital Disorder of Glycosylation, Type Iip 42
322 c LNG045 Long Qt Syndrome 10 42
323 MYT011 Myotonia 42
324 CMB017 Combined Oxidative Phosphorylation Deficiency 6 41
325 c CNG192 Congenital Disorder of Glycosylation, Type Ik 41
326 c SPS099 Spastic Paraplegia 42, Autosomal Dominant 41
327 c MYS076 Myasthenic Syndrome, Congenital, 8 41
328 c CNG195 Congenital Disorder of Glycosylation, Type Id 41
329 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 40
330 c CRN209 Cornelia De Lange Syndrome 5 40
331 c CNG200 Congenital Disorder of Glycosylation, Type Iq 40
332 c MYS078 Myasthenic Syndrome, Congenital, 14 40
333 c CNG205 Congenital Disorder of Glycosylation, Type Ij 40
334 MYS057 Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency 40
335 CMP017 Camptocormism 39
336 CRV043 Cervical Dystonia 38
337 c CNG193 Congenital Disorder of Glycosylation, Type Ip 37
338 DFF004 Diffuse Peritoneal Leiomyomatosis 37
339 c EPL203 Epilepsy, Familial Adult Myoclonic, 2 36
340 c CNG386 Congenital Disorder of Glycosylation, Type Iu 36
341 c CNG403 Congenital Disorder of Glycosylation, Type Ix 36
342 c DYS146 Dystonia 24 36
343 c CNG188 Congenital Disorder of Glycosylation, Type if 35
344 c CNG378 Congenital Disorder of Glycosylation, Type Ir 35
345 c EPL155 Epilepsy, Progressive Myoclonic, 8 35
346 c EPL207 Epilepsy, Progressive Myoclonic, 1b 34
347 c EPL134 Epilepsy, Progressive Myoclonic 7 34
348 c CNG416 Congenital Disorder of Glycosylation, Type Iy 34
349 NDL002 Nodular Tenosynovitis 33
350 CPM001 Cap Myopathy 33
351 c MYS077 Myasthenic Syndrome, Congenital, 15 33
352 c EPL053 Epilepsy, Familial Adult Myoclonic, 3 32
353 c EPL009 Epilepsy Progressive Myoclonic Type 3 32
354 MCH006 Mechanical Strabismus 31
355 c EPL201 Epilepsy, Familial Adult Myoclonic, 1 31
356 c EPL188 Epilepsy, Progressive Myoclonic, 10 31
357 MCR067 Microcoria, Congenital 30
358 c EPL103 Epilepsy, Familial Adult Myoclonic, 5 30
359 MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 30
360 PLY114 Polyglucosan Body Myopathy 2 29
361 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 29
362 c EPL154 Epilepsy, Progressive Myoclonic, 9 28
363 c SPS013 Spastic Paraplegia 8 28
364 c CNG617 Congenital Disorder of Glycosylation, Type Iit 28
365 c MYC086 Myoclonic Epilepsy, Juvenile 4 28
366 c LNG052 Long Qt Syndrome 8 28
367 c CNG626 Congenital Disorder of Glycosylation, Type Iw, Autosomal Recessive 27
368 MCR039 Macrophagic Myofasciitis 27
369 c MYC068 Myoclonic Epilepsy of Infancy 27
370 c EPL107 Epilepsy, Familial Adult Myoclonic, 4 27
371 c EPL228 Epilepsy, Familial Adult Myoclonic, 7 27
372 c EPL227 Epilepsy, Familial Adult Myoclonic, 6 26
373 c CNG623 Congenital Disorder of Glycosylation, Type Iiw 26
374 c CNG622 Congenital Disorder of Glycosylation, Type 2v 26
375 MYP155 Myopathy, Congenital, with Tremor 25
376 c LNG114 Long Qt Syndrome 16 25
377 c CNG615 Congenital Disorder of Glycosylation, Type Iir 25
378 MSC193 Muscular Lipidosis 24
379 c PRG106 Progressive Muscular Dystrophy 24
380 c EPL254 Epilepsy, Progressive Myoclonic, 11 23
381 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
382 c MYC085 Myoclonic Epilepsy, Juvenile 3 23
383 c EPL210 Epilepsy, Progressive Myoclonic, 6 22
384 c EPL217 Epilepsy, Juvenile Myoclonic 10 21
385 DST013 Distal Myopathy with Vocal Cord Weakness 21
386 c MYP158 Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 21
387 P SKL032 Skeletal Muscle Disease 21
388 c OCL085 Oculopharyngodistal Myopathy 4 21
389 BLP011 Blepharophimosis with Ptosis, Syndactyly, and Short Stature 20
390 c EPL257 Epilepsy, Progressive Myoclonic, 12 20
391 c CRY039 Carey-Fineman-Ziter Syndrome 2 18
392 OSL002 O'sullivan-Mcleod Syndrome 18
393 MYP167 Myopathy, Distal, 7, Adult-Onset, X-Linked 17
394 c EPL186 Epilepsy, Juvenile Myoclonic 9 15
395 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 15
396 OCL023 Ocular Muscular Dystrophy 14
397 FBR096 Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence 13
398 MSC192 Muscular Glycogenosis 12
399 P ATS428 Autosomal Recessive Distal Hereditary Motor Neuropathy 12
400 SYM014 Symbrachydactyly of Hands and Feet 12
401 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 12
402 LM2002 Lama2 Muscular Dystrophy 11
403 HYP751 Hypertrophia Musculorum Vera 10
404 MSC153 Muscular Dystrophy, Cardiac Type 10
405 MSC151 Muscular Hypertonia, Lethal 9
406 MSC144 Muscular Atrophy, Malignant Neurogenic 9
407 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
408 AN5002 Ano5 Muscle Disease 9
409 MSC054 Muscle Strength Quantitative Trait Locus 1 9
410 UDD002 Udd Distal Myopathy - Tibial Muscular Dystrophy 9
411 c CNG628 Congenital Disorder of Glycosylation Iw 9
412 EPS012 Episodic Muscle Weakness, X-Linked 9
413 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 9
414 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
415 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
416 MYP061 Myopathy with Hexagonally Cross-Linked Tubular Arrays 8
417 MSC194 Muscular Tumor 8
418 PLY164 Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 8
419 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
420 GNT125 Genetic Skeletal Muscle Disease 8
421 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 8
422 MSC145 Muscular Dystrophy, Barnes Type 7
423 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
424 PLM161 Palmaris Longus Muscle, Absence of 7
425 PRN065 Peroneus Tertius Muscle, Absence of 7
426 CLL037 Collagen Vi Related Muscular Dystrophy 7
427 TBL002 Tibial Collateral Ligament Bursitis 7
428 MSC197 Muscular Channelopathy 7
429 c ACQ057 Acquired Skeletal Muscle Disease 7
430 P DSR041 Disorder of Multiple Glycosylation 6
431 MSC155 Muscular Dystrophy, Mabry Type 6
432 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
433 CNG050 Congenital Absence of the Sternocleidomastoid Muscle 4
434 LTN025 Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies 4
435 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
436 FBL001 Fibular Collateral Ligament Bursitis 4
437 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
438 BLB006 Bulbospinal Muscular Atrophy of Adult 3
439 MSC198 Musculoskeletal Disease with Cataract 3
440 BLB007 Bulbospinal Muscular Atrophy of Childhood 3
441 GNR047 Generalized Bulbospinal Muscular Atrophy 3
442 HYP853 Hypercontractile Muscle Stiffness Syndrome 3
443 P NRL027 Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect 3
444 ART039 Arthrogryposis Due to Muscular Dystrophy 3
445 GNT172 Genetic Neurological Muscular Channelopathy 3
446 c NRL030 Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect 3
447 LMN007 Laminopathy with Striated Muscle Involvement 2
448 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 1
449 MSC152 Muscular Dystrophy, Becker Type 72
450 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 63
451 FCS012 Facioscapulohumeral Muscular Dystrophy 1 62
452 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 61
453 c ART061 Arthrogryposis, Distal, Type 2a 60
454 P GLY013 Glycogen Storage Disease 59
455 c MYP072 Myopathy, Myofibrillar, 1 57
456 c LNG048 Long Qt Syndrome 3 56
457 P SCK002 Sick Sinus Syndrome 55
458 P PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 54
459 P CNT004 Centronuclear Myopathy 54
460 SPS003 Spastic Diplegia 54
461 CNG046 Congenital Fiber-Type Disproportion 52
462 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 50
463 GSG001 Gas Gangrene 49
464 c PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 49
465 c CHR095 Chronic Progressive External Ophthalmoplegia 49
466 BCK006 Back Pain 48
467 P MYF003 Myofibrillar Myopathy 48
468 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 48
469 MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 47
470 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 47
471 P DMY001 Demyelinating Polyneuropathy 46
472 c MYP080 Myopathy, Myofibrillar, 4 45
473 MYF002 Myofascial Pain Syndrome 44
474 P BLP003 Blepharospasm 44
475 DPH021 Diaphragm Disease 43
476 SPN009 Spindle Cell Rhabdomyosarcoma 42
477 MTC004 Mitochondrial Encephalomyopathy 42
478 FCL022 Focal Dystonia 42
479 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 41
480 c MYT027 Myotonia Congenita, Autosomal Dominant 40
481 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 40
482 P MYG005 Myoglobinuria 40
483 c BLP048 Blepharospasm, Benign Essential 40
484 PSD016 Pseudosarcomatous Fibromatosis 39
485 RCK002 Rocky Mountain Spotted Fever 38
486 CMB052 Combined Oxidative Phosphorylation Deficiency 20 38
487 c DYS151 Dystonia 25 37
488 WHP002 Whiplash 36
489 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 36
490 DPH006 Diaphragmatic Eventration 35
491 CLL043 Collagen Vi-Related Dystrophies 35
492 c ART168 Arthrogryposis, Distal, Type 1c 35
493 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 34
494 MYS016 Myosclerosis, Autosomal Recessive 32
495 c SCK017 Sick Sinus Syndrome 1 32
496 RMN001 Rumination Disorder 31
497 c MYP088 Myopathy, Tubular Aggregate, 2 31
498 c MYG007 Myoglobinuria, Recurrent 31
499 DYS198 Dystonia, Focal, Task-Specific 30
500 c SCK014 Sick Sinus Syndrome 2 30
501 MYP157 Myopathy, Congenital, with Structured Cores and Z-Line Abnormalities 30
502 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 29
503 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29
504 CLC004 Calcific Tendinitis 29
505 INT013 Intramuscular Hemangioma 29
506 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
507 EPT011 Epithelioid Leiomyosarcoma 29
508 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
509 c INF031 Inflammatory Leiomyosarcoma 28
510 PRX013 Proximal Chromosome 18q Deletion Syndrome 28
511 c ART131 Arthrogryposis, Distal, Type 4 27
512 c FML272 Familial Sick Sinus Syndrome 27
513 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 26
514 TRG006 Trigger Thumb 25
515 CNG032 Congenital Structural Myopathy 25
516 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 24
517 CRD016 Cardiac Rupture 24
518 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 23
519 MYP156 Myopathy, Congenital, Progressive, with Scoliosis 23
520 GLL016 Gallbladder Leiomyosarcoma 23
521 c SCK022 Sick Sinus Syndrome 3 22
522 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 22
523 MYS002 Myositis Fibrosa 22
524 c MYF012 Myofibrillar Myopathy 11 22
525 PRK103 Parkinsonism with Polyneuropathy 21
526 GRN036 Granulomatous Myositis 21
527 OCL082 Oculomotor-Abducens Synkinesis 20
528 c SBC037 Subacute Inflammatory Demyelinating Polyneuropathy 20
529 c OCL080 Oculopharyngodistal Myopathy 2 20
530 CNG108 Congenital Mitral Stenosis 20
531 TBL004 Tibialis Tendinitis 19
532 P RDC010 Reducing Body Myopathy 19
533 P WHS002 Whistling Face Syndrome, Recessive Form 19
534 c SCK050 Sick Sinus Syndrome 4 18
535 PLV018 Pelvic Hypoplasia with Lower-Limb Arthrogryposis 18
536 CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 18
537 MYP039 Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 18
538 c MYG006 Myoglobinuria, Autosomal Dominant 17
539 c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16
540 RHB025 Rhabdomyolysis-Myalgia Syndrome 16
541 XLN132 X-Linked Intellectual Disability, Schimke Type 16
542 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 15
543 c ATS191 Autosomal Recessive Spastic Paraplegia Type 67 15
544 P MYP124 Myopathy, Distal, Infantile-Onset 14
545 c ATS432 Autosomal Dominant Distal Myopathy 13
546 SPR003 Superior Vena Cava Leiomyosarcoma 13
547 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 12
548 TRC088 Trochleitis 11
549 c ATS431 Autosomal Recessive Distal Myopathy 11
550 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 9
551 MDS017 Mediastinum Leiomyosarcoma 9
552 P TTL001 Total Internal Ophthalmoplegia 8
553 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
554 c ADL031 Adult Botryoid Rhabdomyosarcoma 8
555 HRD119 Hereditary Inclusion Body Myopathy Type 4 6
556 ANS008 Anus Rhabdomyosarcoma 6
557 c RDC017 Reducing Body Myopathy 1a 4
558 c RDC018 Reducing Body Myopathy 1b 4
559 c ACT242 Acute and Subacute Inflammatory Demyelinating Polyneuropathy 4
560 c ATS473 Autosomal Recessive Whistling Face Syndrome 4
561 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 53
562 EPD099 Epidermolysis Bullosa Simplex 5b, with Muscular Dystrophy 52
563 c GLY097 Glycogen Storage Disease Ixb 49
564 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 45
565 PLN006 Poland Syndrome 46
566 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 40
567 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 24
568 QZM001 Qazi Markouizos Syndrome 22
569 c NRN053 Neuronopathy, Distal Hereditary Motor, Type X 12
570 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 60
571 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 37
572 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 33
573 c NRN050 Neuronopathy, Distal Hereditary Motor, Type Vc 29
574 P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 67
575 STY001 Satoyoshi Syndrome 31
576 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 29
577 DWR023 Dwarfism, Familial, with Muscle Spasms 14
578 RND001 Round Ligament Malignant Neoplasm 8
579 P CHR071 Charcot-Marie-Tooth Disease 64
580 ABD009 Abducens Palsy 44
581 c DST106 Distal Hereditary Motor Neuronopathy Type 2 41
582 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 28
583 P CRP001 Carpal Tunnel Syndrome 66
584 c HRD138 Hereditary Motor and Sensory Neuropathy V 34
585 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 26
586 c SH3001 Sh3tc2-Related Hereditary Motor and Sensory Neuropathy 15
587 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 12
588 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 59
589 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 42
590 SLH001 Salih Myopathy 38
591 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 17
592 BRD006 Broad Ligament Malignant Neoplasm 8
593 c DLT002 Dilated Cardiomyopathy 79
594 DNN001 Danon Disease 60
595 c CRD093 Cardiomyopathy, Dilated, 1a 55
596 RSS026 Roussy-Levy Hereditary Areflexic Dystasia 55
597 c CRD099 Cardiomyopathy, Dilated, 1e 54
598 c CRD080 Cardiomyopathy, Dilated, 1g 52
599 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 50
600 c CRD233 Cardiomyopathy, Dilated, 1b 47
601 c CRD097 Cardiomyopathy, Dilated, 1d 46
602 c CRD105 Cardiomyopathy, Dilated, 1o 45
603 c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 45
604 c CRD091 Cardiomyopathy, Dilated, 1dd 43
605 c CRD155 Cardiomyopathy, Dilated, 1kk 42
606 c CRD069 Cardiomyopathy, Dilated, 1h 41
607 c CRD090 Cardiomyopathy, Dilated, 1l 40
608 c CRD063 Cardiomyopathy, Dilated, 2a 39
609 c CRD114 Cardiomyopathy, Dilated, 1m 38
610 c CRD101 Cardiomyopathy, Dilated, 1x 36
611 c CRD064 Cardiomyopathy, Dilated, 1ff 36
612 c CRD082 Cardiomyopathy, Dilated, 1gg 35
613 NRP009 Neuropathy, Hereditary Motor and Sensory, Okinawa Type 34
614 c CRD104 Cardiomyopathy, Dilated, 1p 34
615 c CRD159 Cardiomyopathy, Dilated, 1hh 33
616 c CRD102 Cardiomyopathy, Dilated, 1j 33
617 c CRD107 Cardiomyopathy, Dilated, 1r 33
618 c CRD096 Cardiomyopathy, Dilated, 1ee 32
619 c ATM102 Autoimmune Cardiomyopathy 29
620 PRF003 Piriformis Syndrome 26
621 c CRD162 Cardiomyopathy, Dilated, 1ii 26
622 c CRD111 Cardiomyopathy, Dilated, 1i 26
623 c CRD108 Cardiomyopathy, Dilated, 1bb 26
624 c CRD115 Cardiomyopathy, Dilated, 1cc 25
625 c CRD149 Cardiomyopathy, Dilated, 1jj 25
626 c CRD060 Cardiomyopathy, Dilated, 1z 25
627 c CRD113 Cardiomyopathy, Dilated, 1v 25
628 c CRD092 Cardiomyopathy, Dilated, 1w 25
629 c CRD112 Cardiomyopathy, Dilated, 1u 24
630 c CRD153 Cardiomyopathy, Dilated, 2b 24
631 c CRD173 Cardiomyopathy, Dilated, 1nn 23
632 c DLT017 Dilated Cardiomyopathy 1t 22
633 c CRD250 Cardiomyopathy, Dilated, 2d 22
634 c CRD244 Cardiomyopathy, Dilated, 2c 22
635 c CRD261 Cardiomyopathy, Dilated, 2g 22
636 c CRD255 Cardiomyopathy, Dilated, 2e 21
637 c CRD260 Cardiomyopathy, Dilated, 2f 20
638 P RRC004 Rare Cardiomyopathy 16
639 c CRD070 Cardiomyopathy, Dilated, 1k 14
640 c CRD071 Cardiomyopathy, Dilated, 1q 14
641 c LMN001 Lmna-Related Dilated Cardiomyopathy 13
642 c CRD027 Cardiomyopathy Due to Anthracyclines 5
643 c DYS056 Dystonia 12 67
644 c EPS035 Episodic Ataxia, Type 2 66
645 P HYP370 Hypokalemic Periodic Paralysis, Type 1 65
646 P EPS003 Episodic Ataxia 60
647 DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 59
648 c EPS042 Episodic Ataxia, Type 1 58
649 P LTR001 Lateral Sclerosis 56
650 P NRC002 Narcolepsy 54
651 c EPS017 Episodic Ataxia, Type 6 49
652 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 49
653 c SPS219 Spastic Paraplegia 17, Autosomal Dominant 47
654 c EPS034 Episodic Ataxia, Type 5 47
655 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 46
656 AMY086 Amyotrophy, Hereditary Neuralgic 46
657 c DYS119 Dystonia 9 43
658 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
659 c DYS172 Dystonia 27 38
660 c HYP606 Hypokalemic Periodic Paralysis, Type 2 38
661 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 37
662 ART163 Arthrogryposis Multiplex Congenita 2, Neurogenic Type 37
663 c EPS033 Episodic Ataxia, Type 8 37
664 P OCL076 Oculopharyngodistal Myopathy 1 36
665 c EPS037 Episodic Ataxia, Type 4 36
666 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 35
667 c DYS145 Dystonia 23 33
668 c EPS015 Episodic Ataxia, Type 7 33
669 c EPS014 Episodic Ataxia, Type 3 32
670 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 31
671 c CHR026 Charcot-Marie-Tooth Disease Type X 28
672 c EPS048 Episodic Ataxia, Type 9 27
673 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 26
674 c DYS212 Dystonia 30 25
675 c HRD212 Hereditary Episodic Ataxia 24
676 c DYS138 Dystonia 21 23
677 c CHR571 Charcot-Marie-Tooth Disease Type 5 23
678 c DYS219 Dystonia 33 23
679 c KMT002 Kmt2b-Related Dystonia 21
680 c HRD198 Hereditary Dystonia 21
681 c DYS223 Dystonia 28 21
682 c CHR135 Charcot-Marie-Tooth Disease Type 2a 19
683 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 15
684 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
685 c RRD039 Rare Dystonia 9
686 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
687 c CHR572 Charcot-Marie-Tooth Disease Type 7 5
688 GTL001 Gitelman Syndrome 66
689 P DYS154 Dystonia 66
690 P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 66
691 CNV004 Canavan Disease 65
692 NRM005 Neuromuscular Disease 63
693 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 58
694 LMY014 Leiomyoma, Uterine 56
695 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 54
696 c CHR646 Charcot-Marie-Tooth Disease, Axonal, Type 2b 51
697 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 51
698 c SPS117 Spastic Paraplegia 10, Autosomal Dominant 51
699 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 50
700 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 50
701 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 49
702 c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 48
703 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 48
704 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 47
705 MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 46
706 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 46
707 HYP265 Hypotonia 46
708 c CHR547 Charcot-Marie-Tooth Disease, Axonal, Type 2u 44
709 NRP010 Neuropathy, Hereditary Motor and Sensory, Russe Type 43
710 ALC010 Alcoholic Cardiomyopathy 41
711 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 40
712 c CHR542 Charcot-Marie-Tooth Disease, Axonal, Type 2t 39
713 P SNG014 Singleton-Merten Syndrome 39
714 P PRS124 Presynaptic Congenital Myasthenic Syndromes 38
715 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
716 c CHR678 Charcot-Marie-Tooth Disease, Axonal, Type 2dd 38
717 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 37
718 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 37
719 P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 33
720 c SNG011 Singleton-Merten Syndrome 1 33
721 c MYS069 Myasthenic Syndrome, Congenital, 21, Presynaptic 33
722 MLN064 Melanoma of Soft Tissue 25
723 c MYS081 Myasthenic Syndrome, Congenital, 24, Presynaptic 23
724 c MYS080 Myasthenic Syndrome, Congenital, 23, Presynaptic 20
725 PCH004 Pachygyria, Frontotemporal 20
726 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
727 UTR040 Uterine Ligament Adenocarcinoma 8
728 UTR002 Uterine Ligament Mucinous Adenocarcinoma 6
729 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 6
730 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 6
731 UTR012 Uterine Ligament Serous Adenocarcinoma 5
732 c AMY091 Amyotrophic Lateral Sclerosis 1 87
733 P EPL164 Epilepsy 71
734 c DNG003 Dengue Disease 69
735 P CNG001 Congenital Myasthenic Syndrome 65
736 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 63
737 P MYC008 Myocarditis 62
738 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61
739 c MLG084 Malignant Fibrous Histiocytoma 57
740 END021 Endomyocardial Fibrosis 56
741 c MTC054 Mitochondrial Dna Depletion Syndrome 7 56
742 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 56
743 P LFT003 Left Ventricular Noncompaction 55
744 STR081 Stormorken Syndrome 55
745 c ESS001 Essential Tremor 55
746 P TRM003 Tremor 54
747 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
748 c LKD019 Leukodystrophy, Hypomyelinating, 6 53
749 c MTC063 Mitochondrial Dna Depletion Syndrome 3 52
750 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 51
751 c CRD187 Cardiomyopathy, Dilated, 3b 51
752 c LKD010 Leukodystrophy, Hypomyelinating, 2 51
753 c AMY045 Amyotrophic Lateral Sclerosis 4, Juvenile 51
754 c MTC058 Mitochondrial Dna Depletion Syndrome 6 51
755 P DNG005 Dengue Virus 51
756 c LKD009 Leukodystrophy, Hypomyelinating, 5 50
757 P MGL002 Megalencephalic Leukoencephalopathy with Subcortical Cysts 49
758 c MTC060 Mitochondrial Dna Depletion Syndrome 9 49
759 c MTC062 Mitochondrial Dna Depletion Syndrome 2 49
760 c BNG023 Benign Familial Infantile Epilepsy 49
761 c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 48
762 c CHR352 Charcot-Marie-Tooth Disease, Axonal, Type 2f 48
763 P SPN448 Spondyloepimetaphyseal Dysplasia with Joint Laxity 47
764 c MTC059 Mitochondrial Dna Depletion Syndrome 5 47
765 c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 47
766 c LKD020 Leukodystrophy, Hypomyelinating, 10 47
767 c AMY069 Amyotrophic Lateral Sclerosis 21 47
768 c MLG147 Malignant Hyperthermia 1 47
769 c SPS148 Spastic Paraplegia 31, Autosomal Dominant 46
770 c SPS203 Spastic Paraplegia 78, Autosomal Recessive 46
771 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 46
772 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 46
773 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 46
774 c ACT076 Acute Myocarditis 46
775 c AMY090 Amyotrophic Lateral Sclerosis 8 46
776 c GLY009 Glycogen Storage Disease Xv 46
777 QBC001 Quebec Platelet Disorder 45
778 LYM009 Lymphocytic Choriomeningitis 45
779 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 45
780 c MTC088 Mitochondrial Dna Depletion Syndrome 13 44
781 c CHR617 Charcot-Marie-Tooth Disease, Axonal, Type 2z 44
782 c SPS129 Spastic Paraplegia 39, Autosomal Recessive 44
783 c AMY058 Amyotrophic Lateral Sclerosis 2, Juvenile 44
784 P FBR003 Fibrous Histiocytoma 43
785 c FML036 Familial Periodic Paralysis 43
786 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 43
787 c MYS052 Myasthenic Syndrome, Congenital, 10 43
788 P PRD021 Periodic Paralysis 43
789 c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 42
790 MTR007 Motor Peripheral Neuropathy 42
791 c LKD023 Leukodystrophy, Hypomyelinating, 12 42
792 c AMY083 Amyotrophic Lateral Sclerosis 11 42
793 P HMF004 Hemifacial Spasm 42
794 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
795 c MGL010 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 41
796 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 41
797 c MYS075 Myasthenic Syndrome, Congenital, 13 41
798 c MYS074 Myasthenic Syndrome, Congenital, 12 41
799 c LKD015 Leukodystrophy, Hypomyelinating, 3 41
800 c AMY057 Amyotrophic Lateral Sclerosis 16, Juvenile 41
801 P JVN050 Juvenile Amyotrophic Lateral Sclerosis 41
802 c LKD016 Leukodystrophy, Hypomyelinating, 9 41
803 c CHR671 Charcot-Marie-Tooth Disease, Axonal, Type 2r 40
804 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 40
805 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 39
806 c LKD008 Leukodystrophy, Hypomyelinating, 4 39
807 c CHR489 Charcot-Marie-Tooth Disease, Axonal, Type 2q 39
808 c AMY088 Amyotrophic Lateral Sclerosis 3 38
809 MLT075 Multifocal Motor Neuropathy 38
810 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 38
811 c MYS067 Myasthenic Syndrome, Congenital, 22 38
812 c LKD022 Leukodystrophy, Hypomyelinating, 13 38
813 SPS225 Spastic Paralysis, Infantile-Onset Ascending 38
814 c LKD021 Leukodystrophy, Hypomyelinating, 11 37
815 c AMY023 Amyotrophic Lateral Sclerosis Type 6 37
816 c AMY059 Amyotrophic Lateral Sclerosis 19 37
817 c AMY067 Amyotrophic Lateral Sclerosis 18 37
818 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 36
819 P HYP700 Hypomyelinating Leukodystrophy 36
820 c TRM024 Tremor, Hereditary Essential, 1 35
821 MGB001 Megabladder, Congenital 35
822 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 34
823 c AMY079 Amyotrophic Lateral Sclerosis Type 15 33
824 c AMY085 Amyotrophic Lateral Sclerosis 9 33
825 c AMY022 Amyotrophic Lateral Sclerosis Type 5 33
826 c AMY094 Amyotrophic Lateral Sclerosis 5, Juvenile 32
827 c AMY081 Amyotrophic Lateral Sclerosis Type 12 32
828 c MTC126 Mitochondrial Dna Depletion Syndrome 14 32
829 c AMY063 Amyotrophic Lateral Sclerosis 20 32
830 c INF185 Infantile Epilepsy Syndrome 32
831 c TRM017 Tremor, Hereditary Essential, 4 31
832 c MLG151 Malignant Hyperthermia 5 30
833 FTD001 Foot Drop 30
834 c LFT017 Left Ventricular Noncompaction 8 29
835 c LFT021 Left Ventricular Noncompaction 1 29
836 c ATM114 Autoimmune Epilepsy 29
837 c TRM022 Tremor, Hereditary Essential, 5 28
838 c TRM020 Tremor, Hereditary Essential, 2 28
839 c LKD028 Leukodystrophy, Hypomyelinating, 15 28
840 c LKD030 Leukodystrophy, Hypomyelinating, 17 28
841 c LFT018 Left Ventricular Noncompaction 10 28
842 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 26
843 c LKD027 Leukodystrophy, Hypomyelinating, 14 26
844 c LKD031 Leukodystrophy, Hypomyelinating, 18 26
845 c AMY074 Amyotrophic Lateral Sclerosis Type 14 26
846 c CHR613 Charcot-Marie-Tooth Disease, Axonal, Type 2x 26
847 c MLG167 Malignant Inflammatory Fibrous Histiocytoma 26
848 c CRP037 Carpal Tunnel Syndrome 2 26
849 c TRM029 Tremor, Hereditary Essential, 6 26
850 c LKD029 Leukodystrophy, Hypomyelinating, 16 25
851 c DST105 Distal Hereditary Motor Neuronopathy Type 7 25
852 FCL042 Facial Onset Sensory and Motor Neuronopathy 25
853 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 24
854 c MTC234 Mitochondrial Dna Depletion Syndrome 16b 24
855 c AMY089 Amyotrophic Lateral Sclerosis 7 24
856 c LKD032 Leukodystrophy, Hypomyelinating, 19, Transient Infantile 23
857 c MTC204 Mitochondrial Dna Depletion Syndrome 18 23
858 c AMY109 Amyotrophic Lateral Sclerosis Type 22 23
859 MYS083 Myasthenic Syndrome, Congenital, 7a, Presynaptic, and Distal Motor Neuropathy, Autosomal Dominant 23
860 c LKD035 Leukodystrophy, Hypomyelinating, 22 23
861 c AMY110 Amyotrophic Lateral Sclerosis 24 23
862 c CHR725 Charcot-Marie-Tooth Disease, Demyelinating, Type 1h 23
863 c MTC236 Mitochondrial Dna Depletion Syndrome 20 23
864 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 23
865 c MYF010 Myofibromatosis, Infantile, 2 23
866 c OCL084 Oculopharyngodistal Myopathy 3 23
867 c AMY108 Amyotrophic Lateral Sclerosis 23 22
868 c MTC182 Mitochondrial Dna Depletion Syndrome 16 22
869 P TRC015 Trochlear Nerve Disease 22
870 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 22
871 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
872 c LKD033 Leukodystrophy, Hypomyelinating, 20 21
873 c LKD034 Leukodystrophy, Hypomyelinating, 21 21
874 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
875 c AMY112 Amyotrophic Lateral Sclerosis 25 20
876 c LFT020 Left Ventricular Noncompaction 7 20
877 c LKD037 Leukodystrophy, Hypomyelinating, 24 20
878 ANK015 Ankylosing Vertebral Hyperostosis with Tylosis 20
879 c TRM016 Tremor, Hereditary Essential, 3 20
880 c INF055 Infectious Myocarditis 19
881 c LFT011 Left Ventricular Noncompaction 2 19
882 DFN312 Deafness, Congenital, with Vitiligo and Achalasia 19
883 c CNG621 Congenital Myasthenic Syndrome 7 17
884 c RRP028 Rare Epilepsy 16
885 c MTC014 Mitochondrial Dna Deletion Syndromes 15
886 c MGL041 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b 14
887 c DST092 Distal Hereditary Motor Neuropathy Type 7 14
888 c KCN020 Kcnt1-Related Epilepsy 14
889 c DPD002 Depdc5-Related Epilepsy 13
890 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 13
891 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
892 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 12
893 INV014 Inverse Klippel-Trenaunay Syndrome 11
894 XLN239 X-Linked Distal Hereditary Motor Neuropathy 11
895 MSC143 Muscle Cramps, Familial 9
896 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 8
897 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 8
898 c INF177 Inflammatory and Autoimmune Disease with Epilepsy 5
899 c RRT014 Rare Tremor Disorder 4
900 c RRT018 Rare Trochlear Nerve Disorder 4
901 c INF176 Infectious Disease with Epilepsy 4
902 DSR016 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement 4
903 SPN436 Spinal Muscular Atrophy Associated with Central Nervous System Anomaly 3
904 c NRL029 Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect 3
905 c NRL028 Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect 3
906 c NRL031 Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect 3
907 P MYT021 Myotonic Dystrophy 1 74
908 c SPN225 Spondyloarthropathy 1 70
909 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 69
910 P MYP004 Myopathy 67
911 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 66
912 LRN002 Laron Syndrome 63
913 HLT001 Holt-Oram Syndrome 62
914 CNT105 Central Core Disease of Muscle 62
915 WLK001 Walker-Warburg Syndrome 61
916 P DRM010 Dermatomyositis 61
917 CHL028 Childhood Type Dermatomyositis 61
918 AVN001 Avian Influenza 60
919 CRT017 Cartilage Disease 58
920 P MYS005 Myositis 58
921 P GNT049 Giant Axonal Neuropathy 1, Autosomal Recessive 57
922 P ATR001 Atrioventricular Septal Defect 56
923 c ART120 Arthrogryposis, Distal, Type 3 55
924 c NML003 Nemaline Myopathy 2 55
925 P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 54
926 c MYP078 Myopathy, Myofibrillar, 3 54
927 CHR073 Choreatic Disease 54
928 c LTH007 Lethal Congenital Contracture Syndrome 1 53
929 c ART119 Arthrogryposis, Distal, Type 5 53
930 TND005 Tendinitis 52
931 P SPN052 Spondyloarthropathy 52
932 P L2H001 L-2-Hydroxyglutaric Aciduria 52
933 ANK001 Ankylosis 51
934 SPS007 Spastic Cerebral Palsy 51
935 P CMP008 Compartment Syndrome 51
936 c D2H002 D-2-Hydroxyglutaric Aciduria 1 51
937 c MYP125 Myopathy, Distal, 1 51
938 c MYP131 Myopathy, Centronuclear, 2 50
939 P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 50
940 P MYP087 Myopathy, Tubular Aggregate, 1 50
941 SGW002 Segawa Syndrome, Autosomal Recessive 50
942 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 48
943 KNG004 King-Denborough Syndrome 48
944 c ART147 Arthrogryposis, Distal, Type 7 48
945 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 48
946 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 47
947 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 47
948 CHR659 Chromosome 22q11.2 Duplication Syndrome 47
949 BRL010 Buruli Ulcer 47
950 P EPD094 Epidermolysis Bullosa Simplex 1a, Generalized Severe 47
951 UNV001 Unverricht-Lundborg Syndrome 46
952 TNS014 Tenosynovitis 46
953 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 46
954 c MYP081 Myopathy, Myofibrillar, 6 46
955 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 45
956 SNT005 Sinoatrial Node Disease 45
957 c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 45
958 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 45
959 LRW001 Leri-Weill Dyschondrosteosis 44
960 c 2HY001 2-Hydroxyglutaric Aciduria 44
961 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 44
962 MNK002 Monkeypox 44
963 BRK012 Broken Heart Syndrome 44
964 c CHR353 Charcot-Marie-Tooth Disease, Axonal, Type 2l 43
965 c ART104 Arthrogryposis, Distal, Type 5d 43
966 MYS001 Myositis Ossificans 42
967 c NML002 Nemaline Myopathy 1 42
968 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 42
969 c SPS124 Spastic Paraplegia 28, Autosomal Recessive 42
970 c CRS017 Crisponi/cold-Induced Sweating Syndrome 2 41
971 P FCS015 Facioscapulohumeral Muscular Dystrophy 2, Digenic 41
972 c ART157 Arthrogryposis, Distal, Type 2b3 41
973 c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 39
974 ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 39
975 c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 39
976 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 38
977 c LTH008 Lethal Congenital Contracture Syndrome 2 38
978 c EPD096 Epidermolysis Bullosa Simplex 1b, Generalized Intermediate 38
979 CRN294 Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced 38
980 c SPN430 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 37
981 PHS018 Phosphorylase Kinase Deficiency 37
982 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 37
983 c ART156 Arthrogryposis, Distal, Type 2b2 37
984 P THY054 Thyrotoxic Periodic Paralysis 37
985 GLY099 Glycogen Storage Disease Ixa1 37
986 c D2H003 D-2-Hydroxyglutaric Aciduria 2 37
987 c ART112 Arthrogryposis, Distal, Type 10 37
988 c LTH026 Lethal Congenital Contracture Syndrome 4 36
989 PLY021 Polyradiculopathy 36
990 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 36
991 c CHR683 Charcot-Marie-Tooth Disease, Axonal, Type 2ee 36
992 c NML024 Nemaline Myopathy 11, Autosomal Recessive 36
993 P MSC002 Muscular Dystrophy-Dystroglycanopathy 36
994 c EPD113 Epidermolysis Bullosa Simplex Generalized Type 36
995 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 35
996 HYP264 Hypertonia 35
997 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 35
998 c NML021 Nemaline Myopathy 9 34
999 SHL001 Shoulder Impingement Syndrome 34
1000 P STR101 Striatal Degeneration, Autosomal Dominant 1 34
1001 BCK005 Becker Nevus Syndrome 34
1002 ADN075 Adenomyoma 34
1003 c NML007 Nemaline Myopathy 6 33
1004 c THY084 Thyrotoxic Periodic Paralysis 1 33
1005 c THY083 Thyrotoxic Periodic Paralysis 2 33
1006 CRT033 Corticobasal Degeneration 33
1007 c EPD100 Epidermolysis Bullosa Simplex 1d, Generalized, Intermediate or Severe, Autosomal Recessive 32
1008 c ATS533 Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form 31
1009 c EPD106 Epidermolysis Bullosa Simplex 5d, Generalized Intermediate, Autosomal Recessive 31
1010 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31
1011 c SVR040 Severe Congenital Nemaline Myopathy 31
1012 FCL049 Focal Hand Dystonia 31
1013 MLT177 Multisystem Proteinopathy 30
1014 c ART060 Arthrogryposis, Distal, Type 1b 30
1015 c GLY023 Glycogen Storage Disease Type 0 30
1016 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 30
1017 CMB051 Combined Oxidative Phosphorylation Deficiency 21 30
1018 TRS001 Tarsal Tunnel Syndrome 30
1019 SPS016 Spasmodic Dysphonia 29
1020 EPD011 Epidemic Pleurodynia 29
1021 MYP120 Myopathy, Distal, with Rimmed Vacuoles 29
1022 c LTH047 Lethal Congenital Contracture Syndrome 3 28
1023 MYB001 Myoblastoma 28
1024 PTL003 Patellar Tendinitis 28
1025 c GNT045 Giant Axonal Neuropathy 2 28
1026 c NRP065 Neuropathy, Congenital Hypomyelinating, 3 28
1027 c ATR047 Atrioventricular Septal Defect 2 28
1028 c INT274 Intermediate Congenital Nemaline Myopathy 27
1029 c ART128 Arthrogryposis, Distal, Type 6 27
1030 MYC001 Myoclonic Cerebellar Dyssynergia 27
1031 ART136 Arthrogryposis, Distal, with Impaired Proprioception and Touch 26
1032 ANS018 Anismus 26
1033 JNT001 Joint Laxity, Familial 26
1034 c MLG148 Malignant Hyperthermia 2 26
1035 MYP150 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 26
1036 c ATR067 Atrioventricular Septal Defect 4 26
1037 WCK004 Wieacker-Wolff Syndrome, Female-Restricted 26
1038 c ART102 Arterial Calcification, Generalized, of Infancy, 2 26
1039 c LTH029 Lethal Congenital Contracture Syndrome 9 26
1040 MTC094 Mitochondrial Complex Iii Deficiency, Nuclear Type 8 26
1041 P ADD006 Adducted Thumbs Syndrome 26
1042 c LTH042 Lethal Congenital Contracture Syndrome 10 25
1043 c LTH032 Lethal Congenital Contracture Syndrome 7 25
1044 c SPN432 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 25
1045 c EPD104 Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive 25
1046 c LTH027 Lethal Congenital Contracture Syndrome 5 25
1047 c LTH039 Lethal Congenital Contracture Syndrome 11 25
1048 CRD014 Cardiac Diverticulum 25
1049 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 25
1050 c ATR071 Atrioventricular Septal Defect 5 25
1051 c CHR717 Charcot-Marie-Tooth Disease Dominant Intermediate a 25
1052 MYX006 Myxoid Leiomyosarcoma 25
1053 SRB001 Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy 25
1054 LPN001 Louping Ill 25
1055 c STR092 Striatal Degeneration, Autosomal Dominant 2 24
1056 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 24
1057 c LTH030 Lethal Congenital Contracture Syndrome 8 24
1058 c ADL068 Adult-Onset Nemaline Myopathy 24
1059 CLN012 Colon Leiomyosarcoma 24
1060 MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 24
1061 c SNG012 Singleton-Merten Syndrome 2 24
1062 LNG023 Lung Leiomyosarcoma 23
1063 c EPD108 Epidermolysis Bullosa Simplex 2a, Generalized Severe 23
1064 c MLG149 Malignant Hyperthermia 3 23
1065 c DYS216 Dystonia 32 23
1066 c ANT010 Anterior Compartment Syndrome 23
1067 c EPD109 Epidermolysis Bullosa Simplex 2b, Generalized Intermediate 22
1068 c ATR064 Atrioventricular Septal Defect 3 22
1069 c LTH031 Lethal Congenital Contracture Syndrome 6 22
1070 c DYS214 Dystonia 31 22
1071 c GNT040 Giant Axonal Neuropathy 2, Autosomal Dominant 22
1072 MSC004 Muscle Tissue Disease 21
1073 CNV006 Conventional Leiomyosarcoma 21
1074 c MLG150 Malignant Hyperthermia 4 21
1075 NRP070 Neuropathy, Hereditary Motor, with Myopathic Features 21
1076 c MYS019 Miyoshi Muscular Dystrophy 2 21
1077 c CHR714 Charcot-Marie-Tooth Disease, Axonal, Type 2ff 20
1078 c MSC200 Muscular Dystrophy-Dystroglycanopathy , Type B, 15 20
1079 c EPD111 Epidermolysis Bullosa Simplex 2d, Generalized, Intermediate or Severe, Autosomal Recessive 20
1080 BCP001 Bicipital Tenosynovitis 20
1081 c ADD007 Adducted Thumbs, Congenital 19
1082 DST103 Distal Muscular Dystrophy with Anterior Tibial Onset 19
1083 MTC222 Mitochondrial Complex Iv Deficiency, Nuclear Type 15 19
1084 c RPP007 Rippling Muscle Disease 1 19
1085 c ART175 Arthrogryposis, Distal, Type 11 19
1086 c MLG152 Malignant Hyperthermia 6 19
1087 c ART054 Arthrogryposis, Distal, Type 2e 18
1088 c VRL025 Viral Myositis 18
1089 c CHR732 Charcot-Marie-Tooth Disease, Demyelinating, Type 1j 17
1090 THY131 Thyrotoxic Myopathy 16
1091 c BCT018 Bacterial Myositis 16
1092 c ATS532 Autosomal Recessive Generalized Epidermolysis Bullosa Simplex 15
1093 c SPN226 Spondyloarthropathy 2 15
1094 DRT001 Dartoic Leiomyoma 15
1095 c CNG579 Congenital Nemaline Myopathy 15
1096 GNN001 Genuine Diffuse Phlebectasia 13
1097 MYL051 Myalgia-Eosinophilia Syndrome Associated with Tryptophan 13
1098 c JVN047 Juvenile Spondyloarthropathy 13
1099 c INT382 Intermediate Atrioventricular Septal Defect 12
1100 c THY119 Thyrotoxic Periodic Paralysis 3 12
1101 c HMF011 Hemifacial Spasm, Familial 12
1102 LRY014 Larynx Leiomyosarcoma 11
1103 GRN012 Granular Cell Leiomyosarcoma 11
1104 c SPN256 Spondyloarthropathy 3 11
1105 GLL014 Gallbladder Rhabdomyosarcoma 10
1106 c MSC203 Muscular Dystrophy-Dystroglycanopathy Type B 10
1107 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 9
1108 ARC019 Arachnodactyly - Intellectual Disability - Dysmorphism 8
1109 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
1110 MXD015 Mixed Type Rhabdomyosarcoma 6
1111 c BNG038 Benign Autosomal Dominant Myopathy 6
1112 MDS008 Mediastinum Rhabdomyosarcoma 5
1113 ANS009 Anus Leiomyosarcoma 5
1114 c RRD027 Rare Disease with Malignant Hyperthermia 5
1115 MYP005 Myopathy of Extraocular Muscle 4
1116 STR082 Striated Muscle Rhabdoid Tumor 4
1117 TNS002 Tenosynovitis of Foot and Ankle 4
1118 DST104 Distal Muscular Dystrophy Tateyama Type 3
1119 OSS012 Osseous Heteroplasia, Progressive 65
1120 MYP151 Myopathy, Congenital, Bailey-Bloch 58
1121 P CNN005 Connective Tissue Disease 67
1122 NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 57
1123 c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 47
1124 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 26
1125 INT580 Intellectual Developmental Disorder with Muscle Tone Abnormalities and Distal Skeletal Defects 19
1126 MYP160 Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures 19
1127 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 14
1128 c RRH035 Rare Hereditary Connective Tissue Disease 8
1129 c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 73
1130 c HMP029 Hemophilia a 73
1131 c HMP004 Hemophilia B 70
1132 P HYP061 Hypertrophic Cardiomyopathy 69
1133 c PRD013 Periodic Fever, Familial, Autosomal Dominant 68
1134 P SPN301 Spinocerebellar Ataxia 2 61
1135 c SPN309 Spinocerebellar Ataxia 6 60
1136 LGN006 Legionnaire Disease 59
1137 c SPN294 Spinocerebellar Ataxia 1 56
1138 c SPN291 Spinocerebellar Ataxia 7 55
1139 c SPN106 Spinocerebellar Ataxia 5 52
1140 P HMP007 Hemophilia 52
1141 c CRD236 Cardiomyopathy, Familial Hypertrophic, 25 50
1142 c SPN100 Spinocerebellar Ataxia 27 50
1143 c SPN296 Spinocerebellar Ataxia 17 49
1144 c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 49
1145 c SPN308 Spinocerebellar Ataxia 28 49
1146 c SPN305 Spinocerebellar Ataxia 11 48
1147 c SPN304 Spinocerebellar Ataxia 8 48
1148 c SPN293 Spinocerebellar Ataxia 12 48
1149 c SPN312 Spinocerebellar Ataxia 14 47
1150 c SPN314 Spinocerebellar Ataxia 10 46
1151 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 46
1152 ADN022 Adenylosuccinase Deficiency 45
1153 c SPN104 Spinocerebellar Ataxia 34 45
1154 c SPN101 Spinocerebellar Ataxia 29 44
1155 c SPN286 Spinocerebellar Ataxia 40 44
1156 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
1157 c SPN284 Spinocerebellar Ataxia 38 44
1158 c SPN097 Spinocerebellar Ataxia 23 44
1159 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 44
1160 c SPN266 Spinocerebellar Ataxia 35 44
1161 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 44
1162 c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 44
1163 c SPN290 Spinocerebellar Ataxia 15 44
1164 c SPS149 Spastic Paraplegia 8, Autosomal Dominant 44
1165 c SPN283 Spinocerebellar Ataxia 37 44
1166 c SPN247 Spinocerebellar Ataxia Type 19/22 43
1167 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
1168 c SPN105 Spinocerebellar Ataxia 4 42
1169 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 42
1170 c SPN265 Spinocerebellar Ataxia 36 42
1171 c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 41
1172 c CRD222 Cardiomyopathy, Familial Hypertrophic, 26 41
1173 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 41
1174 c SPN096 Spinocerebellar Ataxia 21 41
1175 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 40
1176 c SPN099 Spinocerebellar Ataxia 26 40
1177 c SPN103 Spinocerebellar Ataxia 31 40
1178 c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 39
1179 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
1180 c SPN419 Spinocerebellar Ataxia 45 39
1181 P DYS215 Dyskinesia with Orofacial Involvement, Autosomal Dominant 38
1182 c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 38
1183 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
1184 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 38
1185 c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 37
1186 c CRD081 Cardiomyopathy, Familial Hypertrophic, 12 37
1187 c SPN102 Spinocerebellar Ataxia 30 37
1188 c CRD058 Cardiomyopathy, Familial Hypertrophic, 3 37
1189 c SPN418 Spinocerebellar Ataxia 44 37
1190 c PRM195 Primary Lateral Sclerosis, Juvenile 36
1191 SYD002 Sydenham Chorea 36
1192 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 36
1193 c CRD219 Cardiomyopathy, Infantile Hypertrophic 36
1194 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 36
1195 c DYS162 Dystonia, Juvenile-Onset 35
1196 c SPN383 Spinocerebellar Ataxia 42 35
1197 c SPN299 Spinocerebellar Ataxia 20 35
1198 c SPN095 Spinocerebellar Ataxia 19 35
1199 c SPN098 Spinocerebellar Ataxia 25 35
1200 c SPN427 Spinocerebellar Ataxia 48 35
1201 c CRD056 Cardiomyopathy, Familial Hypertrophic, 11 34
1202 c SPN094 Spinocerebellar Ataxia 18 34
1203 c PRM092 Primary Lateral Sclerosis, Adult, 1 34
1204 c CRD148 Cardiomyopathy, Familial Hypertrophic, 16 34
1205 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
1206 c CRD238 Cardiomyopathy, Familial Hypertrophic, 17 34
1207 c CRD150 Cardiomyopathy, Familial Hypertrophic, 18 33
1208 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 33
1209 c CRD061 Cardiomyopathy, Familial Hypertrophic, 13 33
1210 MTC037 Mitochondrial Phosphate Carrier Deficiency 32
1211 c CRD062 Cardiomyopathy, Familial Hypertrophic, 7 32
1212 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 31
1213 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 31
1214 c CRD089 Cardiomyopathy, Familial Hypertrophic, 14 31
1215 c ACQ014 Acquired Hemophilia 31
1216 c ACQ042 Acquired Hemophilia a 30
1217 P HRD214 Hereditary Periodic Fever Syndrome 30
1218 c CRD088 Cardiomyopathy, Familial Hypertrophic, 8 29
1219 c SPN372 Spinocerebellar Ataxia 43 29
1220 c SPN421 Spinocerebellar Ataxia 47 28
1221 FXC001 Foix Chavany Marie Syndrome 28
1222 c CRD083 Cardiomyopathy, Familial Hypertrophic, 15 28
1223 c SPN451 Spinocerebellar Ataxia, Autosomal Recessive 29 27
1224 c SPN420 Spinocerebellar Ataxia 46 26
1225 c SPN458 Spinocerebellar Ataxia 49 26
1226 c CRD264 Cardiomyopathy, Familial Hypertrophic, 27 26
1227 c SPN323 Spinocerebellar Ataxia 41 26
1228 c SPN455 Spinocerebellar Ataxia, Autosomal Recessive 31 26
1229 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
1230 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 24
1231 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 24
1232 c DYS217 Dyskinesia with Orofacial Involvement, Autosomal Recessive 24
1233 c SPN452 Spinocerebellar Ataxia, Autosomal Recessive 30 23
1234 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
1235 c SPN459 Spinocerebellar Ataxia, Autosomal Recessive 32 22
1236 c CRD251 Cardiomyopathy, Familial Hypertrophic, 28 22
1237 c SPN259 Spinocerebellar Ataxia 32 20
1238 c CRD152 Cardiomyopathy, Familial Hypertrophic, 21 18
1239 c SPN107 Spinocerebellar Ataxia 9 16
1240 c ACQ071 Acquired Hemophilia B 12
1241 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
1242 c RRF013 Rare Familial Disorder with Hypertrophic Cardiomyopathy 7
1243 c RRH034 Rare Hypertrophic Cardiomyopathy 7
1244 c GRD008 Grid2-Related Spinocerebellar Ataxia 6
1245 OST012 Osteoarthritis 77
1246 P CRN300 Coronary Heart Disease 1 72
1247 P MCH002 Machado-Joseph Disease 63
1248 RHM001 Rheumatic Fever 62
1249 P LMY004 Leiomyosarcoma 62
1250 P HYP097 Hyperekplexia 61
1251 P PTT014 Pitt-Hopkins Syndrome 60
1252 CYS005 Cysticercosis 60
1253 c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 59
1254 c EHL073 Ehlers-Danlos Syndrome, Classic Type, 1 59
1255 PTS001 Patau Syndrome 57
1256 c MYT020 Myotonic Dystrophy 2 57
1257 SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 57
1258 RDC002 Radiculopathy 57
1259 P CLS054 Classic Ehlers-Danlos Syndrome 56
1260 c MYS033 Miyoshi Muscular Dystrophy 1 56
1261 P MSC003 Muscular Atrophy 55
1262 c PTT029 Pitt-Hopkins-Like Syndrome 1 54
1263 P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 53
1264 c MYP123 Myopathy, Centronuclear, 1 53
1265 BRD054 Brody Disease 52
1266 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 51
1267 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 51
1268 LMY002 Leiomyoma 51
1269 c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 51
1270 P PRM030 Permanent Neonatal Diabetes Mellitus 51
1271 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 50
1272 MSC072 Muscle Cancer 47
1273 3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 46
1274 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 46
1275 c EHL074 Ehlers-Danlos Syndrome, Classic Type, 2 46
1276 P MYC033 Myoclonus 46
1277 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 46
1278 c SPN335 Spinocerebellar Ataxia Type 1 with Axonal Neuropathy 46
1279 c CHR548 Charcot-Marie-Tooth Disease, Axonal, Type 2v 45
1280 c PTT030 Pitt-Hopkins-Like Syndrome 2 45
1281 49X006 49, Xxxxy Syndrome 45
1282 c NML006 Nemaline Myopathy 5 45
1283 ORB013 Orbital Disease 44
1284 c MYS014 Miyoshi Muscular Dystrophy 3 44
1285 P ART106 Arterial Calcification, Generalized, of Infancy, 1 44
1286 EST005 Esotropia 43
1287 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 43
1288 MRS009 Marsili Syndrome 43
1289 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 43
1290 GLM008 Glomus Tumor 43
1291 c SPS160 Spastic Paraplegia 73, Autosomal Dominant 42
1292 c CNG379 Congenital Disorder of Glycosylation, Type It 42
1293 c MYP095 Myopathy, Distal, 4 42
1294 P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 41
1295 c EHL081 Ehlers-Danlos Syndrome, Classic-Like 41
1296 c SPS227 Spastic Paraplegia 62, Autosomal Recessive 41
1297 c SPS114 Spastic Paraplegia 45, Autosomal Recessive 41
1298 MRD002 Marden-Walker Syndrome 40
1299 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 40
1300 P LTH003 Lethal Congenital Contracture Syndrome 39
1301 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 39
1302 SMT002 Smooth Muscle Tumor 39
1303 c NML005 Nemaline Myopathy 4 39
1304 c NML022 Nemaline Myopathy 10 39
1305 MYT003 Myotonic Disease 38
1306 c NML010 Nemaline Myopathy 7 38
1307 PRG007 Progressive Bulbar Palsy 38
1308 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 37
1309 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 37
1310 DYS001 Dyskinetic Cerebral Palsy 37
1311 c NRP064 Neuropathy, Congenital Hypomyelinating, 2 36
1312 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 36
1313 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 35
1314 c CRN214 Coronary Heart Disease 5 35
1315 MSC190 Muscular Disease 35
1316 c MYP098 Myopathy, Centronuclear, 4 34
1317 c MYS064 Myasthenic Syndrome, Congenital, 16 34
1318 c ADL027 Adult Dermatomyositis 34
1319 BRC010 Brachial Plexus Lesion 33
1320 PRL013 Paralytic Poliomyelitis 33
1321 TYP026 Typical Congenital Nemaline Myopathy 32
1322 CHL107 Childhood-Onset Nemaline Myopathy 32
1323 c SPS120 Spastic Paraplegia 24, Autosomal Recessive 31
1324 P FRT001 Fourth Cranial Nerve Palsy 31
1325 c FML084 Familial Porencephaly 30
1326 c EHL089 Ehlers-Danlos Syndrome, Classic-Like, 2 30
1327 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 30
1328 MLR023 Melorheostosis, Isolated 29
1329 c DBT107 Diabetes Mellitus, Permanent Neonatal, 4 29
1330 c SPS091 Spastic Paraplegia 4 29
1331 c MYP112 Myopathy, Distal, 3 28
1332 46X083 46,xy Gonadal Dysgenesis with Minifascicular Neuropathy 28
1333 c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27
1334 c MYS056 Myasthenic Syndrome, Congenital, 17 27
1335 MYS010 Myostatin-Related Muscle Hypertrophy 27
1336 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 27
1337 ART164 Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect 26
1338 DMT001 Dimethylglycine Dehydrogenase Deficiency 26
1339 c CHR674 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b 26
1340 OVR035 Ovary Leiomyosarcoma 26
1341 ATR076 Atrophic Muscular Disease 26
1342 OGL001 Ogilvie Syndrome 26
1343 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
1344 c DBT106 Diabetes Mellitus, Permanent Neonatal, 3 26
1345 IMG002 Imagawa-Matsumoto Syndrome 25
1346 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 25
1347 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25
1348 c MYC089 Myoclonus, Familial, 1 24
1349 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 24
1350 c CNG627 Congenital Disorder of Glycosylation, Type Iw, Autosomal Dominant 24
1351 MYP164 Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies 24
1352 MTC229 Mitochondrial Complex Ii Deficiency, Nuclear Type 2 23
1353 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 23
1354 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
1355 c MYF011 Myofibrillar Myopathy 10 23
1356 WND002 Wandering Spleen 22
1357 c PTT042 Pitt-Hopkins-Like Syndrome 22
1358 LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 22
1359 c CHR716 Charcot-Marie-Tooth Disease, Axonal, Type 2hh 22
1360 MYP166 Myopathy, Myofibrillar, 12, Infantile-Onset, with Cardiomyopathy 22
1361 c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 21
1362 CYL003 Cylindrical Spirals Myopathy 21
1363 c ATS354 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z 20
1364 BNL001 Bone Leiomyosarcoma 20
1365 EPB002 Epiblepharon 19
1366 PRM138 Pure Mitochondrial Myopathy 19
1367 c CRN174 Coronary Heart Disease 2 18
1368 c MCH012 Machado-Joseph Disease Type 1 18
1369 c MYC090 Myoclonus, Familial, 2 18
1370 HND005 Hand and Foot Deformity with Flat Facies 18
1371 c CRN178 Coronary Heart Disease 6 18
1372 c MCH013 Machado-Joseph Disease Type 3 17
1373 c MCH014 Machado-Joseph Disease Type 2 17
1374 c FRT006 Fourth Cranial Nerve Palsy, Familial Congenital 17
1375 c CRN177 Coronary Heart Disease 7 17
1376 FNG010 Fingerprint Body Myopathy 16
1377 c CRN172 Coronary Heart Disease 3 16
1378 c CRN175 Coronary Heart Disease 4 14
1379 c CRN173 Coronary Heart Disease 8 14
1380 PRM246 Primary Tethered Cord Syndrome 14
1381 c TNX002 Tnxb-Related Classical-Like Ehlers-Danlos Syndrome 14
1382 c CRN176 Coronary Heart Disease 9 13
1383 CNT030 Central Nervous System Leiomyosarcoma 12
1384 FNC068 Functional Neurologic Disorder 10
1385 c PRM322 Primary Myoclonus 8
1386 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 7
1387 EML001 Emilin-1-Related Connective Tissue Disease 7
1388 OVR023 Ovary Rhabdomyosarcoma 6
1389 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
1390 CNG234 Congenital Myopathy, Paradas Type 5
1391 c RRM008 Rare Myoclonus 5
1392 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
1393 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
1394 c CRB193 Cerebral Amyloid Angiopathy, App-Related 57
1395 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 46
1396 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 43
1397 P HRD084 Hereditary Cerebral Amyloid Angiopathy 27
1398 FDB001 Foodborne Botulism 57
1399 PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 43
1400 MSS001 Masa Syndrome 62
1401 MTC026 Mitochondrial Myopathy with Lactic Acidosis 32
1402 c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 71
1403 c DPH024 Diaphragmatic Hernia, Congenital 66
1404 YLL002 Yellow Fever 62
1405 P DST002 Distal Arthrogryposis 61
1406 P EMB005 Embryonal Rhabdomyosarcoma 60
1407 c LNG047 Long Qt Syndrome 2 59
1408 P MLG056 Malignant Hyperthermia 58
1409 PSD012 Pseudoachondroplasia 57
1410 ACH005 Achalasia 57
1411 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 57
1412 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 55
1413 ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 55
1414 P EPS030 Episodic Kinesigenic Dyskinesia 1 55
1415 P HRD021 Hereditary Sensory Neuropathy 54
1416 c NRP041 Neuropathy, Hereditary Sensory, Type Ie 54
1417 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 54
1418 P MYS079 Miyoshi Muscular Dystrophy 53
1419 c PNT034 Pontocerebellar Hypoplasia, Type 2e 53
1420 c PNT057 Pontocerebellar Hypoplasia, Type 1e 52
1421 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 52
1422 P MGC008 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 52
1423 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 52
1424 P MTC133 Mitochondrial Myopathy 51
1425 P MTC235 Mitochondrial Disease 51
1426 c ART155 Arthrogryposis, Distal, Type 2b1 50
1427 P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 50
1428 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 50
1429 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 50
1430 c PNT049 Pontocerebellar Hypoplasia, Type 2d 50
1431 c HYP699 Hyperekplexia 1 50
1432 c MYP079 Myopathy, Myofibrillar, 5 49
1433 c PNT037 Pontocerebellar Hypoplasia, Type 3 49
1434 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 49
1435 c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 49
1436 P RPP006 Rippling Muscle Disease 2 48
1437 c PNT036 Pontocerebellar Hypoplasia, Type 6 48
1438 TXC011 Toxocariasis 48
1439 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 47
1440 c PNT018 Pontocerebellar Hypoplasia, Type 1b 47
1441 P PNT019 Pontocerebellar Hypoplasia 46
1442 c DYS059 Dystonia 16 46
1443 c PNT043 Pontocerebellar Hypoplasia, Type 4 46
1444 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 46
1445 c MYP082 Myopathy, Myofibrillar, 2 45
1446 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45
1447 PLM030 Pleomorphic Rhabdomyosarcoma 44
1448 c MTC116 Mitochondrial Myopathy, Infantile, Transient 44
1449 c PNT044 Pontocerebellar Hypoplasia, Type 2a 44
1450 c PNT032 Pontocerebellar Hypoplasia, Type 9 44
1451 P NRP066 Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy 43
1452 c PNT051 Pontocerebellar Hypoplasia, Type 1d 43
1453 c NRP029 Neuropathy, Hereditary Sensory, Type Iic 42
1454 c ATM022 Autoimmune Myocarditis 42
1455 c CHR668 Charcot-Marie-Tooth Disease, Axonal, Type 2o 42
1456 c PNT035 Pontocerebellar Hypoplasia, Type 1c 41
1457 c NRP039 Neuropathy, Hereditary Sensory, Type Id 41
1458 c PNT039 Pontocerebellar Hypoplasia, Type 7 41
1459 c RHB023 Rhabdomyosarcoma, Embryonal, 1 40
1460 DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 40
1461 c NML025 Nemaline Myopathy 8 40
1462 c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 40
1463 UTR042 Uterus Leiomyosarcoma 40
1464 c HYP519 Hyperekplexia 3 39
1465 c PRX088 Paroxysmal Nonkinesigenic Dyskinesia 1 39
1466 c HYP510 Hyperekplexia 2 39
1467 TMP019 Temporomandibular Joint Anomaly 38
1468 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 38
1469 c PNT050 Pontocerebellar Hypoplasia, Type 11 38
1470 c PNT033 Pontocerebellar Hypoplasia, Type 10 37
1471 c SPS206 Spastic Paraplegia 77, Autosomal Recessive 37
1472 CHR387 Chromosome Xp21 Deletion Syndrome 36
1473 CMB049 Combined Oxidative Phosphorylation Deficiency 17 36
1474 c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 36
1475 ART165 Arthrogryposis Multiplex Congenita 3, Myogenic Type 35
1476 c PNT053 Pontocerebellar Hypoplasia, Type 13 35
1477 MYP035 Myopathy, Distal, with Anterior Tibial Onset 35
1478 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 35
1479 c PNT052 Pontocerebellar Hypoplasia, Type 12 34
1480 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 34
1481 CNG538 Congenital Arthrogryposis with Anterior Horn Cell Disease 34
1482 SML014 Small Intestine Leiomyosarcoma 34
1483 c PNT030 Pontocerebellar Hypoplasia, Type 8 34
1484 c PNT042 Pontocerebellar Hypoplasia, Type 2f 34
1485 c MYP148 Myopathy, Centronuclear, 5 34
1486 CHR281 Chronic Hiccups 33
1487 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 33
1488 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 33
1489 HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 31
1490 c PNT059 Pontocerebellar Hypoplasia, Type 16 31
1491 c NRP067 Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy 30
1492 c PRK081 Parkinson Disease 19a, Juvenile-Onset 30
1493 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
1494 c PNT056 Pontocerebellar Hypoplasia, Type 15 29
1495 c NRP036 Neuropathy, Hereditary Sensory, Type if 29
1496 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 29
1497 PLM004 Pulmonary Artery Leiomyosarcoma 29
1498 c HYP825 Hyperekplexia 4 29
1499 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 29
1500 LBN004 Liebenberg Syndrome 28
1501 c PNT047 Pontocerebellar Hypoplasia, Type 2b 28
1502 ERY030 Erythrocyte Lactate Transporter Defect 27
1503 LPY002 Lipoyltransferase 1 Deficiency 27
1504 c MYS082 Myasthenic Syndrome, Congenital, 25, Presynaptic 27
1505 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 27
1506 PRM050 Primary Orthostatic Tremor 26
1507 STC018 Stac3 Disorder 26
1508 c EPS013 Episodic Kinesigenic Dyskinesia 2 26
1509 c PNT055 Pontocerebellar Hypoplasia, Type 14 26
1510 c CHR701 Charcot-Marie-Tooth Disease Type 1g 26
1511 PRV023 Perivascular Epithelioid Cell Neoplasm 26
1512 c MGC012 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 25
1513 c RHB021 Rhabdomyosarcoma, Embryonal, 2 25
1514 c MGC009 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 24
1515 c CHR724 Charcot-Marie-Tooth Disease, Demyelinating, Type 1i 24
1516 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 24
1517 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 24
1518 c DPH016 Diaphragmatic Hernia 3 24
1519 KRT067 Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy 23
1520 PLM104 Palmoplantar Keratoderma, Nagashima Type 23
1521 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
1522 c PNT048 Pontocerebellar Hypoplasia, Type 2c 22
1523 c MGC011 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 22
1524 INT391 Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy 22
1525 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
1526 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 22
1527 c PNT058 Pontocerebellar Hypoplasia, Type 1f 21
1528 c PNT060 Pontocerebellar Hypoplasia, Type 17 21
1529 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 20
1530 c MGC010 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 19
1531 ANG063 Angiolipomatosis, Familial 19
1532 c PRX024 Paroxysmal Nonkinesigenic Dyskinesia 2 19
1533 CNM001 Canomad Syndrome 18
1534 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 18
1535 c DPH025 Diaphragmatic Hernia 2 18
1536 LCT008 Lactate Dehydrogenase Deficiency 17
1537 CNT021 Central Nervous System Rhabdomyosarcoma 16
1538 c PRM372 Primary Mitochondrial Disorders 16
1539 c MTC199 Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis 15
1540 INF139 Infantile Choroidocerebral Calcification Syndrome 15
1541 c SPT021 Sptlc1-Related Hereditary Sensory Neuropathy 15
1542 NNT046 Neonatal Dermatomyositis 13
1543 c SPR097 Sporadic Hyperekplexia 12
1544 BLD037 Bile Duct Rhabdomyosarcoma 12
1545 CHL030 Childhood Botryoid Rhabdomyosarcoma 11
1546 P HRN027 Hernia, Anterior Diaphragmatic 9
1547 c ISC017 Isca2-Related Mitochondrial Disorder 9
1548 MCR298 Microcephaly-Complex Motor and Sensory Axonal Neuropathy Syndrome 8
1549 FLL007 Fallopian Tube Leiomyosarcoma 7
1550 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
1551 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 6
1552 c MTC198 Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes 6
1553 c LPD015 Lipodystrophy, Familial Partial, Type 2 63
1554 P FML012 Familial Partial Lipodystrophy 54
1555 c LPD021 Lipodystrophy, Familial Partial, Type 3 52
1556 c LPD034 Lipodystrophy, Familial Partial, Type 4 44
1557 c LPD019 Lipodystrophy, Partial, Acquired 44
1558 c LPD036 Lipodystrophy, Familial Partial, Type 6 40
1559 c LPD040 Lipodystrophy, Familial Partial, Type 1 39
1560 c LPD030 Lipodystrophy, Familial Partial, Type 5 36
1561 c LPD044 Lipodystrophy, Familial Partial, Type 7 27
1562 c AKT001 Akt2-Related Familial Partial Lipodystrophy 16
1563 P PRK057 Parkinson Disease, Late-Onset 81
1564 c HYP836 Hypercholesterolemia, Familial, 1 72
1565 P HRS035 Hirschsprung Disease 1 69
1566 c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69
1567 c FML021 Familial Hypercholesterolemia 69
1568 c NRP053 Neuropathy, Hereditary Sensory and Autonomic, Type Iia 69
1569 c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 67
1570 P MSC005 Muscular Dystrophy 66
1571 c ART144 Arthrogryposis, Distal, Type 1a 65
1572 c NRD017 Neurodegeneration with Brain Iron Accumulation 1 64
1573 P BTH005 Bethlem Myopathy 1 64
1574 PLM031 Poliomyelitis 63
1575 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 62
1576 P EMR001 Emery-Dreifuss Muscular Dystrophy 61
1577 c RGD003 Rigid Spine Muscular Dystrophy 1 59
1578 c LSS005 Lissencephaly 1 59
1579 c LSS006 Lissencephaly 2 59
1580 DYS192 Dystonia, Dopa-Responsive 58
1581 P PLY041 Polymyositis 58
1582 P JRV004 Jervell and Lange-Nielsen Syndrome 1 56
1583 c HRD201 Hereditary Sensory and Autonomic Neuropathy Type 1 56
1584 P LMB006 Limb-Girdle Muscular Dystrophy 56
1585 c NRD008 Neurodegeneration with Brain Iron Accumulation 3 56
1586 c NRD032 Neurodegeneration with Brain Iron Accumulation 5 56
1587 P HYP024 Hypoparathyroidism 56
1588 DNT005 Dentatorubral-Pallidoluysian Atrophy 55
1589 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 55
1590 MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 55
1591 MYM001 Myoma 54
1592 c HYP840 Hypercholesterolemia, Familial, 4 54
1593 MLT028 Multiminicore Disease 54
1594 OCL008 Oculopharyngeal Muscular Dystrophy 54
1595 P NRD007 Neurodegeneration with Brain Iron Accumulation 52
1596 TBL009 Tibial Muscular Dystrophy 52
1597 c HRD173 Hereditary Late-Onset Parkinson Disease 51
1598 OST011 Osteomalacia 51
1599 c PRK085 Parkinson Disease 1, Autosomal Dominant 51
1600 c HYP837 Hypercholesterolemia, Familial, 2 50
1601 MYP100 Myopathy, X-Linked, with Excessive Autophagy 50
1602 P PRN026 Porencephaly 49
1603 c NRD016 Neurodegeneration with Brain Iron Accumulation 6 49
1604 c PRK071 Parkinson Disease 14, Autosomal Recessive 48
1605 c NRP033 Neuropathy, Hereditary Sensory and Autonomic, Type Ia 47
1606 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
1607 c NRP038 Neuropathy, Hereditary Sensory and Autonomic, Type Vi 47
1608 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 47
1609 c NRD009 Neurodegeneration with Brain Iron Accumulation 2b 46
1610 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 46
1611 HYL005 Hyaline Body Myopathy 46
1612 c LSS010 Lissencephaly 4 46
1613 c PRK065 Parkinson Disease 20, Early-Onset 45
1614 c NRD014 Neurodegeneration with Brain Iron Accumulation 4 45
1615 c HYP716 Hypermanganesemia with Dystonia 1 45
1616 c CHR350 Charcot-Marie-Tooth Disease, Axonal, Type 2k 44
1617 c PRK093 Parkinson Disease 8, Autosomal Dominant 44
1618 c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 43
1619 c NRP040 Neuropathy, Hereditary Sensory and Autonomic, Type Ic 43
1620 SPS241 Spastic Paraplegia 35, Autosomal Recessive, with or Without Neurodegeneration 43
1621 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 43
1622 c PRK052 Parkinson Disease 17 43
1623 c LSS009 Lissencephaly 3 43
1624 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 42
1625 c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 42
1626 c HYP272 Hypercholesterolemia, Familial, 3 42
1627 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42
1628 c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 42
1629 P BTR001 Botryoid Rhabdomyosarcoma 42
1630 c PRK091 Parkinson Disease 4, Autosomal Dominant 41
1631 c HYP713 Hypermanganesemia with Dystonia 2 41
1632 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 41
1633 c CHR652 Charcot-Marie-Tooth Disease, Axonal, Type 2i 40
1634 c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 40
1635 c HRS036 Hirschsprung Disease 2 40
1636 MLT016 Multicentric Reticulohistiocytosis 40
1637 c CHR657 Charcot-Marie-Tooth Disease, Axonal, Type 2j 39
1638 INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 39
1639 c PRK090 Parkinson Disease 3, Autosomal Dominant 39
1640 c LSS042 Lissencephaly 10 39
1641 ESN015 Eosinophilic Fasciitis 38
1642 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 38
1643 CMB018 Combined Oxidative Phosphorylation Deficiency 7 38
1644 c ERL056 Early-Onset Parkinson's Disease 38
1645 c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 38
1646 c MSC050 Muscular Dystrophy, Congenital, 1b 37
1647 c BTH006 Bethlem Myopathy 2 37
1648 c PRK070 Parkinson Disease 21 35
1649 c MYP119 Myopathy, Myofibrillar, 7 35
1650 MYP038 Myopathy, Congenital, Compton-North 35
1651 c NRP018 Neuropathy, Hereditary Sensory and Autonomic, Type Iib 35
1652 c LSS035 Lissencephaly 8 35
1653 TLS001 Tolosa-Hunt Syndrome 34
1654 c MYP118 Myopathy, Myofibrillar, 8 34
1655 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 32
1656 c JRV002 Jervell and Lange-Nielsen Syndrome 2 32
1657 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
1658 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 30
1659 SKL003 Skeletal Muscle Cancer 30
1660 c CHR545 Charcot-Marie-Tooth Disease, Axonal, Type 2h 29
1661 c ATM068 Autoimmune Hypoparathyroidism 29
1662 SKL002 Skeletal Muscle Neoplasm 28
1663 P HYP821 Hypermanganesemia with Dystonia 27
1664 c PRK083 Parkinson Disease 22, Autosomal Dominant 27
1665 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 27
1666 c PRK098 Parkinson Disease 5, Autosomal Dominant 27
1667 c PRK099 Parkinson Disease 18, Autosomal Dominant 26
1668 HRT018 Heart-Hand Syndrome, Slovenian Type 25
1669 c HRS029 Hirschsprung Disease 4 25
1670 c MYS084 Myasthenic Syndrome, Congenital, 7b, Presynaptic, Autosomal Recessive 25
1671 ORL029 Oral Rhabdomyosarcoma 24
1672 c HRS034 Hirschsprung Disease 3 24
1673 c PRK094 Parkinson Disease 11, Autosomal Dominant 24
1674 c PRK096 Parkinson Disease 13, Autosomal Dominant 24
1675 c JVN058 Juvenile-Onset Parkinson's Disease 24
1676 c JVN046 Juvenile Polymyositis 23
1677 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 22
1678 PLM003 Pulmonary Vein Leiomyosarcoma 22
1679 c NRD047 Neurodegeneration with Brain Iron Accumulation 7 22
1680 c CHR715 Charcot-Marie-Tooth Disease, Axonal, Type 2gg 22
1681 c NRD048 Neurodegeneration with Brain Iron Accumulation 8 21
1682 c PRK104 Parkinson Disease 24, Autosomal Dominant 21
1683 c PRK025 Parkinson Disease 10 20
1684 c PRK058 Parkinson Disease 16 20
1685 c LSS044 Lissencephaly 6 18
1686 c CHR731 Charcot-Marie-Tooth Disease, Axonal, Type 2ii 18
1687 c HRS027 Hirschsprung Disease 5 17
1688 c PRK022 Parkinson Disease 12 16
1689 KSZ002 Kosztolanyi Syndrome 15
1690 c ATS421 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect 14
1691 c HRS028 Hirschsprung Disease 6 13
1692 c HRS024 Hirschsprung Disease 9 13
1693 c HRS026 Hirschsprung Disease 7 13
1694 c VPS003 Vps35-Related Parkinson Disease 12
1695 c HRS025 Hirschsprung Disease 8 12
1696 c ACQ029 Acquired Porencephaly 9
1697 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
1698 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
1699 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
1700 c SCN062 Secondary Hypoparathyroidism Due to Impaired Parathormon Secretion 8
1701 c ATS273 Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy 7
1702 c RRH010 Rare Hypoparathyroidism 6
1703 P ATS271 Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy 5
1704 P RRH027 Rare Hypercholesterolemia 5
1705 c HRD010 Hereditary Spastic Paraplegia 68
1706 CNT099 Contractural Arachnodactyly, Congenital 66
1707 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 66
1708 MYP136 Myopathy, Centronuclear, X-Linked 62
1709 c DVL042 Developmental and Epileptic Encephalopathy 14 62
1710 c SPS222 Spastic Paraplegia 20, Autosomal Recessive 61
1711 c DVL030 Developmental and Epileptic Encephalopathy 36 61
1712 EPL131 Epilepsy, Pyridoxine-Dependent 61
1713 P ULL002 Ullrich Congenital Muscular Dystrophy 1 60
1714 INC002 Inclusion Body Myositis 59
1715 c SPS128 Spastic Paraplegia 7, Autosomal Recessive 59
1716 BTT016 Batten-Turner Congenital Myopathy 59
1717 c DVL033 Developmental and Epileptic Encephalopathy 1 57
1718 P MYT023 Myotonia Congenita 57
1719 P URF003 Urofacial Syndrome 1 55
1720 c SPS215 Spastic Paraplegia 3, Autosomal Dominant 55
1721 P LSS002 Lissencephaly 54
1722 c DVL038 Developmental and Epileptic Encephalopathy 7 54
1723 c DVL029 Developmental and Epileptic Encephalopathy 2 53
1724 PRP009 Peripartum Cardiomyopathy 52
1725 c DVL027 Developmental and Epileptic Encephalopathy 9 52
1726 c SPS151 Spastic Paraplegia 11, Autosomal Recessive 52
1727 P DVL113 Developmental and Epileptic Encephalopathy 51
1728 c SPS125 Spastic Paraplegia 15, Autosomal Recessive 50
1729 c DVL041 Developmental and Epileptic Encephalopathy 13 50
1730 c SPS147 Spastic Paraplegia 4, Autosomal Dominant 50
1731 c HRD227 Hereditary Spastic Paraplegia 35 50
1732 c SPS210 Spastic Paraplegia 76, Autosomal Recessive 49
1733 P SPS133 Spastic Paraplegia 2, X-Linked 49
1734 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 48
1735 c SPS127 Spastic Paraplegia 6, Autosomal Dominant 48
1736 c NML004 Nemaline Myopathy 3 47
1737 P NML001 Nemaline Myopathy 47
1738 P MTC010 Mitochondrial Dna Depletion Syndrome 47
1739 c SPS103 Spastic Paraplegia 50, Autosomal Recessive 47
1740 c DVL035 Developmental and Epileptic Encephalopathy 4 47
1741 MYP094 Myopathy, Spheroid Body 46
1742 MYP159 Myopathy, Proximal, with Ophthalmoplegia 46
1743 c DVL118 Developmental and Epileptic Encephalopathy 94 46
1744 c DVL048 Developmental and Epileptic Encephalopathy 21 45
1745 c SPS109 Spastic Paraplegia 46, Autosomal Recessive 45
1746 c DVL039 Developmental and Epileptic Encephalopathy 11 45
1747 c SPS116 Spastic Paraplegia 26, Autosomal Recessive 45
1748 c SPS106 Spastic Paraplegia 54, Autosomal Recessive 45
1749 c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 45
1750 c HRD220 Hereditary Spastic Paraplegia 30 45
1751 c SPS213 Spastic Paraplegia 75, Autosomal Recessive 44
1752 c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 44
1753 IMM066 Immunodeficiency 9 44
1754 c SPS107 Spastic Paraplegia 18, Autosomal Recessive 44
1755 c DVL056 Developmental and Epileptic Encephalopathy 30 44
1756 c DVL068 Developmental and Epileptic Encephalopathy 43 44
1757 c DVL099 Developmental and Epileptic Encephalopathy 75 43
1758 c SPS152 Spastic Paraplegia 51, Autosomal Recessive 43
1759 c SPS095 Spastic Paraplegia 47, Autosomal Recessive 43
1760 c SPS071 Spastic Paraplegia 48, Autosomal Recessive 43
1761 c DVL067 Developmental and Epileptic Encephalopathy 42 43
1762 c DVL044 Developmental and Epileptic Encephalopathy 16 43
1763 c DVL077 Developmental and Epileptic Encephalopathy 53 42
1764 c SPS157 Spastic Paraplegia 64, Autosomal Recessive 42
1765 c DVL076 Developmental and Epileptic Encephalopathy 52 42
1766 c DVL037 Developmental and Epileptic Encephalopathy 5 42
1767 c SPS119 Spastic Paraplegia 55, Autosomal Recessive 42
1768 c SPS137 Spastic Paraplegia 57, Autosomal Recessive 42
1769 c DVL049 Developmental and Epileptic Encephalopathy 23 42
1770 c SPS104 Spastic Paraplegia 53, Autosomal Recessive 42
1771 c DVL062 Developmental and Epileptic Encephalopathy 35 42
1772 c SPS097 Spastic Paraplegia 13, Autosomal Dominant 41
1773 c SPS096 Spastic Paraplegia 44, Autosomal Recessive 41
1774 c DVL072 Developmental and Epileptic Encephalopathy 47 41
1775 PYM001 Pyomyositis 41
1776 c SPS205 Spastic Paraplegia 79, Autosomal Recessive 40
1777 c DVL100 Developmental and Epileptic Encephalopathy 76 40
1778 c SPS228 Spastic Paraplegia 63, Autosomal Recessive 40
1779 c DVL045 Developmental and Epileptic Encephalopathy 17 40
1780 c DVL064 Developmental and Epileptic Encephalopathy 38 40
1781 c DVL034 Developmental and Epileptic Encephalopathy 3 39
1782 c SPS141 Spastic Paraplegia 61, Autosomal Recessive 39
1783 c DVL061 Developmental and Epileptic Encephalopathy 34 39
1784 c DVL098 Developmental and Epileptic Encephalopathy 74 39
1785 c SPS131 Spastic Paraplegia 12, Autosomal Dominant 39
1786 c DVL052 Developmental and Epileptic Encephalopathy 26 39
1787 c DVL028 Developmental and Epileptic Encephalopathy 8 39
1788 c SPS100 Spastic Paraplegia 38, Autosomal Dominant 39
1789 c DVL040 Developmental and Epileptic Encephalopathy 12 39
1790 c DVL103 Developmental and Epileptic Encephalopathy 80 39
1791 GLM012 Glomuvenous Malformations 38
1792 c DVL073 Developmental and Epileptic Encephalopathy 48 38
1793 c SPS122 Spastic Paraplegia 52, Autosomal Recessive 38
1794 c DVL109 Developmental and Epileptic Encephalopathy 87 38
1795 c DVL060 Developmental and Epileptic Encephalopathy 50 38
1796 c DVL053 Developmental and Epileptic Encephalopathy 27 38
1797 ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 38
1798 c DVL043 Developmental and Epileptic Encephalopathy 15 38
1799 c SPS238 Spastic Paraplegia 81, Autosomal Recessive 37
1800 c SPS232 Spastic Paraplegia 80, Autosomal Dominant 37
1801 c DVL055 Developmental and Epileptic Encephalopathy 29 37
1802 c DVL050 Developmental and Epileptic Encephalopathy 24 37
1803 c DVL078 Developmental and Epileptic Encephalopathy 54 36
1804 c DVL079 Developmental and Epileptic Encephalopathy 55 36
1805 c DVL069 Developmental and Epileptic Encephalopathy 44 36
1806 c SPS239 Spastic Paraplegia 82, Autosomal Recessive 36
1807 c DVL097 Developmental and Epileptic Encephalopathy 73 36
1808 c SPS237 Spastic Paraplegia 30, Autosomal Dominant 36
1809 c SPS156 Spastic Paraplegia 74, Autosomal Recessive 36
1810 c SPS123 Spastic Paraplegia 32, Autosomal Recessive 35
1811 HML042 Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy 35
1812 c HRD229 Hereditary Spastic Paraplegia 56 35
1813 c SPS092 Spastic Paraplegia 11 35
1814 c DVL054 Developmental and Epileptic Encephalopathy 28 34
1815 c DVL059 Developmental and Epileptic Encephalopathy 33 34
1816 c DVL090 Developmental and Epileptic Encephalopathy 66 34
1817 c DVL057 Developmental and Epileptic Encephalopathy 31 34
1818 P SPS012 Spastic Paraplegia 3a 34
1819 c HRD226 Hereditary Spastic Paraplegia 49 33
1820 c DVL089 Developmental and Epileptic Encephalopathy 65 33
1821 c SPS068 Spastic Paraplegia 14, Autosomal Recessive 33
1822 c DVL084 Developmental and Epileptic Encephalopathy 60 33
1823 c SPS025 Spastic Paraplegia 15 32
1824 c DVL046 Developmental and Epileptic Encephalopathy 18 32
1825 c DVL129 Developmental and Epileptic Encephalopathy 25 31
1826 c SPS243 Spastic Paraplegia 85, Autosomal Recessive 31
1827 c DVL119 Developmental and Epileptic Encephalopathy 6b 31
1828 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 31
1829 c SPS102 Spastic Paraplegia 25, Autosomal Recessive 31
1830 c SPS231 Spastic Paraplegia 23, Autosomal Recessive 31
1831 c DVL114 Developmental and Epileptic Encephalopathy 91 31
1832 c SPS062 Spastic Paraplegia 34, X-Linked 31
1833 c SPS110 Spastic Paraplegia 19, Autosomal Dominant 31
1834 c SPS240 Spastic Paraplegia 83, Autosomal Recessive 30
1835 c DVL063 Developmental and Epileptic Encephalopathy 37 30
1836 c DVL107 Developmental and Epileptic Encephalopathy 84 30
1837 c SPS244 Spastic Paraplegia 86, Autosomal Recessive 30
1838 c SPS198 Spastic Paraplegia 16, X-Linked 29
1839 c HRD186 Hereditary Spastic Paraplegia 51 29
1840 c SPS115 Spastic Paraplegia 41, Autosomal Dominant 29
1841 PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 29
1842 c SPS242 Spastic Paraplegia 84, Autosomal Recessive 29
1843 c SPS138 Spastic Paraplegia 72, Autosomal Recessive 29
1844 c SPS113 Spastic Paraplegia 33, Autosomal Dominant 29
1845 c HRD188 Hereditary Spastic Paraplegia 72 29
1846 c DVL080 Developmental and Epileptic Encephalopathy 56 28
1847 c DVL058 Developmental and Epileptic Encephalopathy 32 28
1848 c DVL071 Developmental and Epileptic Encephalopathy 46 28
1849 SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 28
1850 c DVL112 Developmental and Epileptic Encephalopathy 89 28
1851 c DVL066 Developmental and Epileptic Encephalopathy 41 27
1852 c SPS118 Spastic Paraplegia 36, Autosomal Dominant 27
1853 c DVL094 Developmental and Epileptic Encephalopathy 70 27
1854 c DVL093 Developmental and Epileptic Encephalopathy 69 27
1855 c DVL120 Developmental and Epileptic Encephalopathy 95 27
1856 c DVL086 Developmental and Epileptic Encephalopathy 62 27
1857 c DVL088 Developmental and Epileptic Encephalopathy 64 27
1858 c DVL074 Developmental and Epileptic Encephalopathy 49 27
1859 c DVL116 Developmental and Epileptic Encephalopathy 93 27
1860 INT004 Intraneural Perineurioma 27
1861 c SPS111 Spastic Paraplegia 27, Autosomal Recessive 27
1862 c DVL047 Developmental and Epileptic Encephalopathy 19 27
1863 c DVL101 Developmental and Epileptic Encephalopathy 78 27
1864 c DVL092 Developmental and Epileptic Encephalopathy 68 26
1865 c DVL091 Developmental and Epileptic Encephalopathy 67 26
1866 c DVL083 Developmental and Epileptic Encephalopathy 59 26
1867 c DVL075 Developmental and Epileptic Encephalopathy 51 26
1868 c DVL104 Developmental and Epileptic Encephalopathy 81 26
1869 c DVL115 Developmental and Epileptic Encephalopathy 92 26
1870 c DVL127 Developmental and Epileptic Encephalopathy 98 26
1871 c DVL128 Developmental and Epileptic Encephalopathy 99 26
1872 c DVL070 Developmental and Epileptic Encephalopathy 45 26
1873 c DVL081 Developmental and Epileptic Encephalopathy 57 25
1874 c DVL106 Developmental and Epileptic Encephalopathy 83 25
1875 c DVL102 Developmental and Epileptic Encephalopathy 79 25
1876 c DVL032 Developmental and Epileptic Encephalopathy 90 25
1877 c DVL131 Developmental and Epileptic Encephalopathy 100 25
1878 c DVL105 Developmental and Epileptic Encephalopathy 82 25
1879 c DVL085 Developmental and Epileptic Encephalopathy 61 25
1880 c DVL087 Developmental and Epileptic Encephalopathy 63 24
1881 c HRD210 Hereditary Spastic Paraplegia 23 24
1882 c DVL110 Developmental and Epileptic Encephalopathy 88 24
1883 c DVL095 Developmental and Epileptic Encephalopathy 71 24
1884 c DVL065 Developmental and Epileptic Encephalopathy 40 24
1885 c DVL096 Developmental and Epileptic Encephalopathy 72 24
1886 c SPS042 Spastic Paraplegia 9 24
1887 c SPS230 Spastic Paraplegia Type 49 23
1888 c SPS094 Spastic Paraplegia 29, Autosomal Dominant 23
1889 c DVL082 Developmental and Epileptic Encephalopathy 58 23
1890 c DVL132 Developmental and Epileptic Encephalopathy 101 22
1891 c DVL124 Developmental and Epileptic Encephalopathy 97 22
1892 c URF002 Urofacial Syndrome 2 22
1893 c DVL121 Developmental and Epileptic Encephalopathy 96 22
1894 c DVL134 Developmental and Epileptic Encephalopathy 102 22
1895 c SPS105 Spastic Paraplegia 37, Autosomal Dominant 21
1896 c DVL135 Developmental and Epileptic Encephalopathy 103 21
1897 c DVL141 Developmental and Epileptic Encephalopathy 106 21
1898 c DVL108 Developmental and Epileptic Encephalopathy 86 21
1899 c DVL136 Developmental and Epileptic Encephalopathy 104 20
1900 c DVL142 Developmental and Epileptic Encephalopathy 107 19
1901 c SPS246 Spastic Paraplegia 87, Autosomal Recessive 19
1902 RCH003 Richieri Costa Da Silva Syndrome 18
1903 c SPS248 Spastic Paraplegia 88, Autosomal Dominant 18
1904 c ATS412 Autosomal Dominant Spastic Paraplegia Type 9b 16
1905 c ATS187 Autosomal Recessive Spastic Paraplegia Type 69 15
1906 c ATS185 Autosomal Recessive Spastic Paraplegia Type 59 14
1907 c ATS190 Autosomal Recessive Spastic Paraplegia Type 66 14
1908 c ATS188 Autosomal Recessive Spastic Paraplegia Type 70 14
1909 c ATS189 Autosomal Recessive Spastic Paraplegia Type 71 14
1910 ATS241 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 with Giant Axons 14
1911 c DVL148 Developmental and Epileptic Encephalopathy 108 13
1912 c ATS184 Autosomal Recessive Spastic Paraplegia Type 60 13
1913 c GRN068 Grin2d-Related Developmental and Epileptic Encephalopathy 11
1914 c DVL151 Developmental and Epileptic Encephalopathy 110 11
1915 c DVL150 Developmental and Epileptic Encephalopathy 109 10
1916 c SPS040 Spastic Paraplegia 5b 7
1917 MSC157 Muscular Dystrophy, Duchenne Type 80
1918 P RHB003 Rhabdomyosarcoma 65
1919 OST024 Osteoporosis-Pseudoglioma Syndrome 60
1920 NNK001 Nonaka Myopathy 59
1921 c SPN311 Spinocerebellar Ataxia 13 51
1922 MYP086 Myopathy with Extrapyramidal Signs 47
1923 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 45
1924 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 41
1925 c CRT070 Cortical Dysplasia, Complex, with Other Brain Malformations 1 39
1926 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 37
1927 ART173 Arthrogryposis, Impaired Intellectual Development, and Seizures 35
1928 BTN005 Biotin-Thiamine-Responsive Basal Ganglia Disease 34
1929 c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 33
1930 c CRT074 Cortical Dysplasia, Complex, with Other Brain Malformations 6 33
1931 c CRT067 Cortical Dysplasia, Complex, with Other Brain Malformations 2 33
1932 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 31
1933 GRW040 Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy 27
1934 c CRT068 Cortical Dysplasia, Complex, with Other Brain Malformations 3 26
1935 PRM288 Permanent Molars, Secondary Retention of 26
1936 c CRT073 Cortical Dysplasia, Complex, with Other Brain Malformations 5 25
1937 c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 24
1938 c CRT071 Cortical Dysplasia, Complex, with Other Brain Malformations 4 23
1939 P CMP082 Complex Cortical Dysplasia with Other Brain Malformations 22
1940 c CRT087 Cortical Dysplasia, Complex, with Other Brain Malformations 9 22
1941 c RHB024 Rhabdomyosarcoma 2 65
1942 KRN002 Kearns-Sayre Syndrome 63
1943 c EXS019 Exostoses, Multiple, Type I 58
1944 P HRD001 Hereditary Multiple Exostoses 50
1945 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 46
1946 c EXS020 Exostoses, Multiple, Type Ii 39
1947 AMN007 Aminoacylase 1 Deficiency 34
1948 c EXS021 Exostoses, Multiple, Type Iii 20
1949 ALV005 Alveolar Soft Part Sarcoma 54
1950 SCH018 Schizencephaly 48



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