Muscle Diseases Category (953 diseases)


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

# Family MCID Name MIFTS
1 P SPN385 Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant 33
2 c SPN394 Spinal Muscular Atrophy, Type Iii 52
3 c SPN395 Spinal Muscular Atrophy, Type Ii 46
4 P SPN408 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 49
5 SPN402 Spinal Muscular Atrophy, X-Linked 2 40
6 c SPN398 Spinal Muscular Atrophy, Type Iv 42
7 c SPN393 Spinal Muscular Atrophy, Type I 53
8 c NRN036 Neuronopathy, Distal Hereditary Motor, Type Viii 29
9 c SPN326 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 37
10 SPN188 Spinal Muscular Atrophy, Distal, X-Linked 3 31
11 SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 34
12 SPN423 Spinal Muscular Atrophy with Lower Extremity Predominance 18
13 EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 54
14 MYP152 Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures 25
15 OSS014 Ossification of the Posterior Longitudinal Ligament of Spine 48
16 SPN204 Spinal Muscular Atrophy, Late-Onset, Finkel Type 27
17 c SPN191 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 29
18 PRM321 Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments 7
19 MSC012 Muscular Dystrophy, Duchenne and Becker Type 34
20 SPN426 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant 32
21 MSC185 Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue 26
22 P MSC134 Musculocontractural Ehlers-Danlos Syndrome 36
23 AMY098 Amyotrophy, Monomelic 33
24 MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 22
25 FKY002 Fukuyama Type Muscular Dystrophy 16
26 CST006 Costocoracoid Ligament, Congenitally Short 13
27 c ATS418 Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 12
28 SCP002 Scapuloperoneal Spinal Muscular Atrophy 38
29 TBL022 Tibial Muscular Dystrophy, Tardive 36
30 c SPN255 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 26
31 c LSS005 Lissencephaly 1 53
32 c LSS006 Lissencephaly 2 52
33 P LSS002 Lissencephaly 51
34 c LSS010 Lissencephaly 4 33
35 P LMN012 Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy 30
36 c LSS009 Lissencephaly 3 28
37 c LSS025 Lissencephaly 5 26
38 c LSS035 Lissencephaly 8 24
39 c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57
40 c CNG012 Congenital Generalized Lipodystrophy 54
41 c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54
42 P ACQ022 Acquired Generalized Lipodystrophy 47
43 c LPD035 Lipodystrophy, Congenital Generalized, Type 4 42
44 c LPD020 Lipodystrophy, Congenital Generalized, Type 3 39
45 BRW006 Brown Syndrome 27
46 TND002 Tendons, Extensor, of Fingers, Anomalous Insertion of 16
47 c ATS424 Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy 7
48 MSC141 Muscular Dystrophy, Congenital, Davignon-Chauveau Type 21
49 P CLP009 Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 26
50 VCL008 Vacuolar Neuromyopathy 22
51 MSC133 Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 16
52 SPN399 Spinal Muscular Atrophy, Ryukyuan Type 13
53 MLG019 Malignant Giant Cell Tumor of the Tendon Sheath 10
54 SPN278 Spinal Muscular Atrophy with Respiratory Distress Type 2 7
55 FBR011 Fibrodysplasia Ossificans Progressiva 66
56 c EHL080 Ehlers-Danlos Syndrome, Musculocontractural Type, 1 41
57 SPN267 Spinal Muscular Atrophy, Jokela Type 27
58 c EHL086 Ehlers-Danlos Syndrome, Musculocontractural Type, 2 25
59 SPN428 Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant 23
60 TNS001 Tenosynovial Giant Cell Tumor 37
61 SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 35
62 SRV001 Survival Motor Neuron Spinal Muscular Atrophy 28
63 TND001 Tendon Sheath Lipoma 12
64 UTR041 Uterine Ligament Cancer 8
65 c DYS067 Dystonia 6, Torsion 40
66 MDN008 Median Arcuate Ligament Syndrome 36
67 WLN001 Welander Distal Myopathy 36
68 BRW002 Brown's Tendon Sheath Syndrome 28
69 c DYS063 Dystonia 2, Torsion, Autosomal Recessive 28
70 MYP017 Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay 25
71 CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 24
72 c DYS185 Dystonia 13, Torsion, Autosomal Dominant 24
73 c DYS068 Dystonia 7, Torsion 24
74 c TRS025 Torsion Dystonia 2 22
75 c DYS184 Dystonia 17, Torsion, Autosomal Recessive 19
76 MSC158 Muscular Dystrophy, Scapulohumeral 18
77 ATS237 Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy 14
78 c TRS027 Torsion Dystonia 4 13
79 c LMN013 Laminin Subunit Alpha 2-Related Muscular Dystrophy 12
80 P TRS005 Torsion Dystonia with Onset in Infancy 12
81 MSC156 Muscular Dystrophy, Progressive Pectorodorsal 9
82 c TRS028 Torsion Dystonia 17 5
83 LMN014 Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 3
84 ADL062 Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type 3
85 OBS369 Obsolete: Congenital Muscular Dystrophy-Muscle Hypertrophy-Severe Intellectual Disability Syndrome 3
86 PGM001 Pigmented Villonodular Synovitis 56
87 PST020 Postpoliomyelitis Syndrome 43
88 c PNT045 Pontocerebellar Hypoplasia, Type 1a 40
89 DQR001 De Quervain Disease 29
90 c CNG411 Congenital Disorder of Glycosylation, Type in 68
91 c CNG415 Congenital Disorder of Glycosylation, Type Ia 55
92 c CNG412 Congenital Disorder of Glycosylation, Type Ii 54
93 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
94 ENT004 Enthesopathy 48
95 c CNG208 Congenital Disorder of Glycosylation, Type Iic 48
96 c CNG206 Congenital Disorder of Glycosylation, Type Ie 47
97 c CNG209 Congenital Disorder of Glycosylation, Type Iif 46
98 c CNG389 Congenital Disorder of Glycosylation, Type Iim 46
99 c CNG190 Congenital Disorder of Glycosylation, Type Iib 46
100 c CNG203 Congenital Disorder of Glycosylation, Type Iii 45
101 P PRX014 Proximal Spinal Muscular Atrophy 45
102 c CNG383 Congenital Disorder of Glycosylation, Type Iik 44
103 c CNG201 Congenital Disorder of Glycosylation, Type Iij 44
104 c CNG204 Congenital Disorder of Glycosylation, Type Iih 44
105 c CNG414 Congenital Disorder of Glycosylation, Type Iil 43
106 c CNG189 Congenital Disorder of Glycosylation, Type Ib 43
107 c CNG498 Congenital Disorder of Glycosylation, Type Iin 43
108 c CNG185 Congenital Disorder of Glycosylation, Type Iig 42
109 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
110 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
111 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
112 c CNG504 Congenital Disorder of Glycosylation, Type Iip 39
113 URG005 Uruguay Faciocardiomusculoskeletal Syndrome 39
114 c CNG194 Congenital Disorder of Glycosylation, Type Ig 39
115 c CNG379 Congenital Disorder of Glycosylation, Type It 38
116 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
117 c CNG196 Congenital Disorder of Glycosylation, Type Ic 35
118 c CNG199 Congenital Disorder of Glycosylation, Type Im 35
119 c CNG205 Congenital Disorder of Glycosylation, Type Ij 35
120 c CNG200 Congenital Disorder of Glycosylation, Type Iq 35
121 c CNG192 Congenital Disorder of Glycosylation, Type Ik 35
122 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
123 c CNG193 Congenital Disorder of Glycosylation, Type Ip 34
124 c CNG198 Congenital Disorder of Glycosylation, Type Il 33
125 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
126 c CNG188 Congenital Disorder of Glycosylation, Type if 31
127 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
128 c CNG388 Congenital Disorder of Glycosylation, Type Iw 29
129 c CNG378 Congenital Disorder of Glycosylation, Type Ir 29
130 ATM005 Autoimmune Disease of Musculoskeletal System 28
131 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
132 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
133 CML001 Cumulative Trauma Disorders 20
134 KCH001 Kocher-Debre-Semelaigne Syndrome 13
135 EMR021 Emery-Dreifuss Syndrome 12
136 MST003 Masters-Allen Syndrome 12
137 SPN083 Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome 12
138 c ATS425 Autosomal Recessive Distal Hereditary Motor Neuronopathy 10
139 SPN387 Spinal Muscular Atrophy, Segmental 9
140 CLL037 Collagen Vi Related Muscular Dystrophy 9
141 P DSR041 Disorder of Multiple Glycosylation 8
142 MSC031 Muscular Phosphorylase Kinase Deficiency 6
143 UTR013 Uterine Ligament Papillary Cystadenoma 4
144 c GLY008 Glycogen Storage Disease Ii 70
145 P SPN046 Spinal Muscular Atrophy 64
146 P CRN015 Cornelia De Lange Syndrome 63
147 INT146 Intervertebral Disc Disease 62
148 c GLY060 Glycogen Storage Disease Ia 61
149 c GLY004 Glycogen Storage Disease V 61
150 P GLY013 Glycogen Storage Disease 59
151 c GLY003 Glycogen Storage Disease Iii 58
152 c GLY007 Glycogen Storage Disease Iv 58
153 c CRN139 Cornelia De Lange Syndrome 1 56
154 c GLY011 Glycogen Storage Disease Vii 55
155 c PNT034 Pontocerebellar Hypoplasia, Type 2e 52
156 c GLY005 Glycogen Storage Disease Vi 51
157 STP011 Stapes Ankylosis with Broad Thumbs and Toes 48
158 c PNT049 Pontocerebellar Hypoplasia, Type 2d 48
159 BRS064 Bursitis 47
160 P TRT019 Torticollis 47
161 P PNT019 Pontocerebellar Hypoplasia 46
162 c GLY098 Glycogen Storage Disease, Type Ixd 45
163 c PNT036 Pontocerebellar Hypoplasia, Type 6 44
164 c PNT030 Pontocerebellar Hypoplasia, Type 8 44
165 c PNT018 Pontocerebellar Hypoplasia, Type 1b 43
166 c GLY097 Glycogen Storage Disease Ixb 41
167 c PNT044 Pontocerebellar Hypoplasia, Type 2a 41
168 c PNT032 Pontocerebellar Hypoplasia, Type 9 41
169 c PNT043 Pontocerebellar Hypoplasia, Type 4 40
170 c GLY016 Glycogen Storage Disease Ib 40
171 c PNT039 Pontocerebellar Hypoplasia, Type 7 40
172 c GLY009 Glycogen Storage Disease Xv 39
173 c PNT037 Pontocerebellar Hypoplasia, Type 3 39
174 c PNT010 Pontocerebellar Hypoplasia Type 1 38
175 c GLY044 Glycogen Storage Disease Ixc 37
176 c GLY057 Glycogen Storage Disease X 34
177 c DYS163 Dystonia 4, Torsion, Autosomal Dominant 33
178 CNG427 Congenital Muscular Dystrophy with Intellectual Disability 32
179 c CRN209 Cornelia De Lange Syndrome 5 31
180 c GLY043 Glycogen Storage Disease Xii 31
181 c CRN134 Cornelia De Lange Syndrome 2 31
182 ERL030 Early-Onset Generalized Limb-Onset Dystonia 31
183 c CRN135 Cornelia De Lange Syndrome 3 31
184 c GLY017 Glycogen Storage Disease Ic 31
185 c CRN215 Cornelia De Lange Syndrome 4 30
186 c PNT046 Pontocerebellar Hypoplasia, Type 5 30
187 CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 29
188 c PNT033 Pontocerebellar Hypoplasia, Type 10 29
189 c PNT047 Pontocerebellar Hypoplasia, Type 2b 27
190 c PNT051 Pontocerebellar Hypoplasia, Type 1d 27
191 c GLY023 Glycogen Storage Disease Type 0 27
192 c PNT050 Pontocerebellar Hypoplasia, Type 11 26
193 NDL002 Nodular Tenosynovitis 26
194 c GLY093 Glycogen Storage Disease Ixa 26
195 c GLY059 Glycogen Storage Disease Xiii 25
196 c GLY001 Glycogen Storage Disease Ix 24
197 c CNG129 Congenital Torticollis 23
198 c GLY006 Glycogen Storage Disease Viii 23
199 c PNT048 Pontocerebellar Hypoplasia, Type 2c 23
200 MSC193 Muscular Lipidosis 23
201 c PNT052 Pontocerebellar Hypoplasia, Type 12 22
202 c PNT042 Pontocerebellar Hypoplasia, Type 2f 21
203 OVR077 Overuse Syndrome 20
204 c TSN003 Tsen54-Related Pontocerebellar Hypoplasia 20
205 c PNT053 Pontocerebellar Hypoplasia, Type 13 19
206 RPT005 Repetitive Motion Disorders 18
207 MSC026 Muscular Dystrophy White Matter Spongiosis 16
208 OCL023 Ocular Muscular Dystrophy 14
209 c EXS014 Exosc3-Related Pontocerebellar Hypoplasia 14
210 PRN061 Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures 14
211 CHR644 Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined 14
212 MSC192 Muscular Glycogenosis 13
213 c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 12
214 XLN239 X-Linked Distal Hereditary Motor Neuropathy 12
215 CNG393 Congenital Muscular Dystrophy with Hyperlaxity 12
216 SPN386 Spinal Muscular Atrophy, Facioscapulohumeral Type 11
217 TBL002 Tibial Collateral Ligament Bursitis 11
218 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
219 HYP751 Hypertrophia Musculorum Vera 11
220 RPT006 Repetitive Stress Injuries 10
221 MSC153 Muscular Dystrophy, Cardiac Type 9
222 SPN341 Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome 9
223 MSC151 Muscular Hypertonia, Lethal 9
224 SPN397 Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 9
225 MSC194 Muscular Tumor 9
226 MSC144 Muscular Atrophy, Malignant Neurogenic 9
227 MSC149 Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy 9
228 SPR121 Superior Transverse Scapular Ligament, Calcification of, Familial 8
229 MSC147 Muscular Hypoplasia, Congenital Universal, of Krabbe 8
230 MSC150 Muscular Dystrophy, Congenital, with Rapid Progression 8
231 MSC146 Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 8
232 MSC154 Muscular Dystrophy, Hemizygous Lethal Type 7
233 CLC062 Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm 7
234 MSC197 Muscular Channelopathy 7
235 MSC145 Muscular Dystrophy, Barnes Type 7
236 CHR643 Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita 7
237 MSC155 Muscular Dystrophy, Mabry Type 6
238 SYM016 Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers 5
239 MSC160 Muscular Dystrophy, Congenital, with Cerebellar Atrophy 4
240 GNG007 Ganglion or Cyst of Synovium/tendon/bursa 4
241 LTN025 Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies 4
242 c CLP008 Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 4
243 FBL001 Fibular Collateral Ligament Bursitis 4
244 c CNG061 Congenital Benign Spinal Muscular Atrophy Dominant 3
245 GNR047 Generalized Bulbospinal Muscular Atrophy 3
246 BLB006 Bulbospinal Muscular Atrophy of Adult 3
247 BLB007 Bulbospinal Muscular Atrophy of Childhood 3
248 MSC198 Musculoskeletal Disease with Cataract 3
249 P OBS377 Obsolete: Gmppb-Related Congenital Muscular Dystrophy 3
250 OBS382 Obsolete: Autosomal Recessive Limb-Girdle Muscular Dystrophy with Cerebellar Involvement 3
251 P NRL027 Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect 3
252 c NRL028 Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect 3
253 c NRL031 Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect 3
254 OBS094 Obsolete: Arthrogryposis Due to Muscular Dystrophy 2
255 OBS233 Obsolete: Distal Spinal Muscular Atrophy 2
256 OBS238 Obsolete: Chronic Muscular Fatigue and/or Chronic Muscle Pain 2
257 OBS256 Obsolete: Multifocal Muscular Fibrosis-Obstructed Vessels Syndrome 2
258 OBS381 Obsolete: Genetic Muscular Channelopathy 2
259 c OBS797 Obsolete: Congenital Muscular Dystrophy Due to Extracellular Matrix Protein Anomaly 2
260 c OBS798 Obsolete: Congenital Muscular Dystrophy Due to Glycosyltransferase Anomaly 2
261 c OBS799 Obsolete: Congenital Muscular Dystrophy Due to Proteins of the Endoplasmic Reticulum Anomaly 2
262 ART053 Arthrogryposis Spinal Muscular Atrophy 1
263 CNG443 Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability 1
264 MSC025 Muscular Dystrophy Limb Girdle Type 2a, Erb Type 1
265 MSC030 Muscular Fibrosis Multifocal Obstructed Vessels 1
266 P MLG056 Malignant Hyperthermia 67
267 P TMP003 Temporal Arteritis 67
268 INC002 Inclusion Body Myositis 64
269 P MYP004 Myopathy 64
270 KRN002 Kearns-Sayre Syndrome 63
271 FBR047 Fibromyalgia 59
272 c MYT020 Myotonic Dystrophy 2 57
273 P SCK002 Sick Sinus Syndrome 55
274 P STS003 Sitosterolemia 53
275 TND005 Tendinitis 52
276 P MTC133 Mitochondrial Myopathy 49
277 P MYT002 Myotonic Dystrophy 49
278 SNT005 Sinoatrial Node Disease 49
279 c NML003 Nemaline Myopathy 2 47
280 c STS010 Sitosterolemia 1 47
281 c MYP131 Myopathy, Centronuclear, 2 43
282 DPH021 Diaphragm Disease 43
283 P MTC004 Mitochondrial Encephalomyopathy 43
284 MYP094 Myopathy, Spheroid Body 42
285 MYF002 Myofascial Pain Syndrome 42
286 SPN009 Spindle Cell Rhabdomyosarcoma 40
287 MYS001 Myositis Ossificans 40
288 c MYP080 Myopathy, Myofibrillar, 4 40
289 c NML005 Nemaline Myopathy 4 38
290 c NML010 Nemaline Myopathy 7 38
291 c LM2001 Lama2-Related Muscular Dystrophy 34
292 c NML021 Nemaline Myopathy 9 32
293 DPH006 Diaphragmatic Eventration 32
294 RDC010 Reducing Body Myopathy 31
295 CLC004 Calcific Tendinitis 30
296 3MT008 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency 28
297 EPT011 Epithelioid Leiomyosarcoma 28
298 MYB001 Myoblastoma 28
299 c NML007 Nemaline Myopathy 6 28
300 MYX006 Myxoid Leiomyosarcoma 27
301 GLL016 Gallbladder Leiomyosarcoma 27
302 CNG032 Congenital Structural Myopathy 27
303 c STS011 Sitosterolemia 2 26
304 MSC004 Muscle Tissue Disease 25
305 P MYP108 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 24
306 c ART102 Arterial Calcification, Generalized, of Infancy, 2 24
307 c MYP148 Myopathy, Centronuclear, 5 24
308 MYP005 Myopathy of Extraocular Muscle 24
309 c ADL068 Adult-Onset Nemaline Myopathy 24
310 MYS002 Myositis Fibrosa 23
311 c DPH016 Diaphragmatic Hernia 3 23
312 TBL004 Tibialis Tendinitis 22
313 GRN036 Granulomatous Myositis 21
314 MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 20
315 OVR035 Ovary Leiomyosarcoma 20
316 MYP150 Myopathy, Centronuclear, 6, with Fiber-Type Disproportion 20
317 BCP001 Bicipital Tenosynovitis 19
318 P WHS002 Whistling Face Syndrome, Recessive Form 18
319 MYP039 Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked 17
320 c BCT018 Bacterial Myositis 15
321 P MYP124 Myopathy, Distal, Infantile-Onset 14
322 SPR003 Superior Vena Cava Leiomyosarcoma 14
323 GRN012 Granular Cell Leiomyosarcoma 11
324 ANS009 Anus Leiomyosarcoma 5
325 c FST011 Fastkd2-Related Infantile Mitochondrial Encephalomyopathy 5
326 TNS002 Tenosynovitis of Foot and Ankle 4
327 STR082 Striated Muscle Rhabdoid Tumor 4
328 c NRN037 Neuronopathy, Distal Hereditary Motor, Type Va 36
329 P SPN382 Spinal Muscular Atrophy with Congenital Bone Fractures 1 27
330 c NRN024 Neuronopathy, Distal Hereditary Motor, Type Vb 21
331 c SPN355 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 21
332 ADP007 Adie Pupil 39
333 c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 29
334 c NRN035 Neuronopathy, Distal Hereditary Motor, Type Iia 23
335 RND001 Round Ligament Malignant Neoplasm 8
336 c NRN026 Neuronopathy, Distal Hereditary Motor, Type Iid 27
337 c SPN380 Spinal Muscular Atrophy with Congenital Bone Fractures 2 26
338 c NRN027 Neuronopathy, Distal Hereditary Motor, Type I 24
339 DSM004 Desmoid Tumor 64
340 P CHR640 Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 56
341 MSC077 Muscle Eye Brain Disease 47
342 c XLN110 X-Linked Charcot-Marie-Tooth Disease 43
343 c CHR408 Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 43
344 c CHR505 Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 39
345 c CHR641 Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 35
346 c CHR642 Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 31
347 VSC049 Visceral Myopathy, Familial, with External Ophthalmoplegia 26
348 c CHR697 Charcot-Marie-Tooth Disease X-Linked Recessive 4 21
349 BRD006 Broad Ligament Malignant Neoplasm 8
350 c DYS191 Dystonia 1, Torsion, Autosomal Dominant 50
351 DFF006 Diffuse Idiopathic Skeletal Hyperostosis 46
352 P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 45
353 c CHR115 Charcot-Marie-Tooth Neuropathy Type 2a 23
354 c CHR120 Charcot-Marie-Tooth Neuropathy X Type 1 17
355 c CHR121 Charcot-Marie-Tooth Neuropathy X Type 5 15
356 QZM001 Qazi Markouizos Syndrome 14
357 P CHR071 Charcot-Marie-Tooth Disease 64
358 P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57
359 c CHR516 Charcot-Marie-Tooth Disease, Type 4c 50
360 c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 47
361 c CHR420 Charcot-Marie-Tooth Disease, Type 4j 46
362 P HRD094 Hereditary Motor and Sensory Neuropathy, Type Iic 45
363 c CHR519 Charcot-Marie-Tooth Disease, Type 4b2 45
364 c CHR421 Charcot-Marie-Tooth Disease, Type 4h 44
365 c CHR376 Charcot-Marie-Tooth Disease, Type 4d 43
366 c CHR522 Charcot-Marie-Tooth Disease, Dominant Intermediate E 41
367 c CHR504 Charcot-Marie-Tooth Disease, Type 4b3 41
368 c CHR670 Charcot-Marie-Tooth Disease, Demyelinating, Type 4f 40
369 c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 40
370 c CHR656 Charcot-Marie-Tooth Disease, Demyelinating, Type 1f 39
371 c CHR653 Charcot-Marie-Tooth Disease, Demyelinating, Type 1d 39
372 c CHR484 Charcot-Marie-Tooth Disease, Dominant Intermediate F 36
373 c CHR658 Charcot-Marie-Tooth Disease, Recessive Intermediate a 36
374 c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 36
375 c CHR609 Charcot-Marie-Tooth Disease, Type 4k 34
376 c HRD138 Hereditary Motor and Sensory Neuropathy V 32
377 c CHR481 Charcot-Marie-Tooth Disease, Dominant Intermediate D 32
378 c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 32
379 c CHR491 Charcot-Marie-Tooth Disease, Dominant Intermediate a 31
380 c CHR514 Charcot-Marie-Tooth Disease, Recessive Intermediate D 28
381 c CHR699 Charcot-Marie-Tooth Disease Type 2a2a 28
382 c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 27
383 c CHR026 Charcot-Marie-Tooth Disease Type X 25
384 c CHR676 Charcot-Marie-Tooth Disease, Dominant Intermediate G 25
385 c CHR135 Charcot-Marie-Tooth Disease Type 2a 24
386 c CHR681 Charcot-Marie-Tooth Disease, Demyelinating, Type 1g 21
387 c CHR549 Charcot-Marie-Tooth Disease Type 2l 20
388 c ATS272 Autosomal Dominant Intermediate Charcot-Marie-Tooth 19
389 c ATS274 Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease 13
390 c ATS165 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g 13
391 c GDP003 Gdap1-Related Hereditary Motor and Sensory Neuropathy 13
392 c CHR571 Charcot-Marie-Tooth Disease Type 5 11
393 c CHR700 Charcot-Marie-Tooth Disease Type 2a2b 11
394 c CHR701 Charcot-Marie-Tooth Disease Type 1g 9
395 c DNJ004 Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 9
396 c ATS092 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation 8
397 c ATS289 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation 8
398 c ATS363 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation 6
399 c CHR572 Charcot-Marie-Tooth Disease Type 7 6
400 CNT105 Central Core Disease of Muscle 61
401 SLH001 Salih Myopathy 36
402 c NRN040 Neuronopathy, Distal Hereditary Motor, Type Viib 31
403 NCR015 Necrotizing Autoimmune Myopathy 26
404 P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 26
405 ENC048 Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy 24
406 UTR040 Uterine Ligament Adenocarcinoma 8
407 UTR002 Uterine Ligament Mucinous Adenocarcinoma 5
408 UTR027 Uterine Ligament Clear Cell Adenocarcinoma 5
409 UTR012 Uterine Ligament Serous Adenocarcinoma 5
410 UTR001 Uterine Ligament Endometrioid Adenocarcinoma 5
411 END021 Endomyocardial Fibrosis 48
412 P ART106 Arterial Calcification, Generalized, of Infancy, 1 48
413 MTR007 Motor Peripheral Neuropathy 40
414 P DST101 Distal Hereditary Motor Neuropathies 32
415 c PNT035 Pontocerebellar Hypoplasia, Type 1c 27
416 c DST106 Distal Hereditary Motor Neuronopathy Type 2 25
417 c NRN041 Neuronopathy, Distal Hereditary Motor, Type Iib 25
418 PLM104 Palmoplantar Keratoderma, Nagashima Type 24
419 c NRN018 Neuronopathy, Distal Hereditary Motor, Type Iic 24
420 CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 23
421 MSC129 Muscular Pseudohypertrophy-Hypothyroidism Syndrome 22
422 MLN064 Melanoma of Soft Tissue 22
423 PRT108 Puerto Rican Infant Hypotonia Syndrome 20
424 c NRN042 Neuronopathy, Distal Hereditary Motor, Type Ix 19
425 c DST092 Distal Hereditary Motor Neuropathy Type 7 15
426 c ATS428 Autosomal Recessive Distal Hereditary Motor Neuropathy 12
427 MSC159 Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 11
428 c DST105 Distal Hereditary Motor Neuronopathy Type 7 11
429 SPN436 Spinal Muscular Atrophy Associated with Central Nervous System Anomaly 3
430 GNT172 Genetic Neurological Muscular Channelopathy 3
431 c NRL029 Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect 3
432 c NRL030 Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect 3
433 P FCS012 Facioscapulohumeral Muscular Dystrophy 1 61
434 PSD012 Pseudoachondroplasia 58
435 ADN027 Adenomyosis 57
436 c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 56
437 BRD001 Brody Myopathy 55
438 CNG046 Congenital Fiber-Type Disproportion 54
439 MYM001 Myoma 53
440 c MYP072 Myopathy, Myofibrillar, 1 52
441 ANK001 Ankylosis 52
442 P MYP087 Myopathy, Tubular Aggregate, 1 51
443 GSG001 Gas Gangrene 51
444 c CHR517 Charcot-Marie-Tooth Disease, Type 4a 48
445 c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47
446 MYP100 Myopathy, X-Linked, with Excessive Autophagy 47
447 MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 47
448 c MYP079 Myopathy, Myofibrillar, 5 47
449 c MLG147 Malignant Hyperthermia 1 43
450 P HYP265 Hypotonia 42
451 BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 42
452 PYM001 Pyomyositis 41
453 SPS057 Spasticity 41
454 c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 40
455 c MYS014 Miyoshi Muscular Dystrophy 3 40
456 DYS030 Dysferlinopathy 38
457 MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 38
458 SMT002 Smooth Muscle Tumor 37
459 NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 37
460 c MYG007 Myoglobinuria, Recurrent 36
461 c MYS049 Myasthenic Syndrome, Congenital, 3b, Fast-Channel 36
462 c NML022 Nemaline Myopathy 10 35
463 c SCP012 Scapuloperoneal Myopathy, Myh7-Related 35
464 c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34
465 c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 33
466 P SCP010 Scapuloperoneal Myopathy 33
467 SPN253 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures 32
468 SML014 Small Intestine Leiomyosarcoma 31
469 P MYP105 Myopathy, Myosin Storage, Autosomal Dominant 31
470 HYL005 Hyaline Body Myopathy 28
471 P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 28
472 CNV006 Conventional Leiomyosarcoma 27
473 PTL003 Patellar Tendinitis 27
474 LNG023 Lung Leiomyosarcoma 26
475 EPD011 Epidemic Pleurodynia 26
476 CLN012 Colon Leiomyosarcoma 26
477 c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 25
478 c ATS432 Autosomal Dominant Distal Myopathy 24
479 c MLG148 Malignant Hyperthermia 2 24
480 c ART060 Arthrogryposis, Distal, Type 1b 24
481 c MSC187 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 24
482 c MYP116 Myopathy, Distal, 5 24
483 BNL001 Bone Leiomyosarcoma 24
484 c INF065 Infantile Hypotonia 23
485 CNT021 Central Nervous System Rhabdomyosarcoma 23
486 PLM003 Pulmonary Vein Leiomyosarcoma 23
487 c SCK022 Sick Sinus Syndrome 3 23
488 c MSC188 Muscular Dystrophy-Dystroglycanopathy , Type C, 8 22
489 c MLG149 Malignant Hyperthermia 3 22
490 WND002 Wandering Spleen 22
491 ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 21
492 c CNG579 Congenital Nemaline Myopathy 19
493 c MYP158 Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant 16
494 CYL003 Cylindrical Spirals Myopathy 15
495 c LMB073 Limb-Girdle Muscular Dystrophy Type 1a 15
496 DST103 Distal Muscular Dystrophy with Anterior Tibial Onset 14
497 FLP002 Floppy Infant Syndrome 14
498 DST013 Distal Myopathy with Vocal Cord Weakness 13
499 TRC088 Trochleitis 12
500 LRY014 Larynx Leiomyosarcoma 11
501 CHL054 Childhood Pleomorphic Rhabdomyosarcoma 10
502 MDS017 Mediastinum Leiomyosarcoma 9
503 FLL007 Fallopian Tube Leiomyosarcoma 8
504 OVR023 Ovary Rhabdomyosarcoma 8
505 P TTL001 Total Internal Ophthalmoplegia 7
506 FTL045 Fatal Infantile Hypertonic Myofibrillar Myopathy 7
507 P VGN013 Vagina Botryoid Rhabdomyosarcoma 7
508 ANS008 Anus Rhabdomyosarcoma 7
509 MDS008 Mediastinum Rhabdomyosarcoma 6
510 c ADL032 Adult Vagina Botryoid Rhabdomyosarcoma 5
511 c RRD027 Rare Disease with Malignant Hyperthermia 5
512 c ATS473 Autosomal Recessive Whistling Face Syndrome 3
513 DST104 Distal Muscular Dystrophy Tateyama Type 3
514 CNN005 Connective Tissue Disease 66
515 PRN038 Prune Belly Syndrome 55
516 CYP001 Cyprus Facial Neuromusculoskeletal Syndrome 13
517 P DYS154 Dystonia 65
518 c DYS056 Dystonia 12 64
519 c DYS119 Dystonia 9 49
520 DYS064 Dystonia 3, Torsion, X-Linked 47
521 c DYS059 Dystonia 16 41
522 c DYS151 Dystonia 25 39
523 c DYS146 Dystonia 24 38
524 c DYS172 Dystonia 27 36
525 c DYS145 Dystonia 23 32
526 c DYS162 Dystonia, Juvenile-Onset 31
527 c HRD198 Hereditary Dystonia 31
528 c DYS138 Dystonia 21 24
529 c KMT002 Kmt2b-Related Dystonia 16
530 SPN396 Spinal Muscular Atrophy with Mental Retardation 12
531 c RRD039 Rare Dystonia 9
532 OST012 Osteoarthritis 78
533 c MSC165 Muscular Dystrophy, Congenital, Lmna-Related 65
534 c DPH024 Diaphragmatic Hernia, Congenital 64
535 MSC152 Muscular Dystrophy, Becker Type 63
536 c LPD015 Lipodystrophy, Familial Partial, Type 2 62
537 P EMR001 Emery-Dreifuss Muscular Dystrophy 61
538 ALV005 Alveolar Soft Part Sarcoma 61
539 P CNT004 Centronuclear Myopathy 58
540 CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57
541 P MYT023 Myotonia Congenita 55
542 P FML012 Familial Partial Lipodystrophy 55
543 c MYP132 Myopathy, Congenital 55
544 c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54
545 c ART144 Arthrogryposis, Distal, Type 1a 54
546 P MYS079 Miyoshi Muscular Dystrophy 53
547 P EMB005 Embryonal Rhabdomyosarcoma 53
548 P LMB006 Limb-Girdle Muscular Dystrophy 53
549 c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 52
550 P MSC003 Muscular Atrophy 52
551 MSC190 Muscular Disease 51
552 3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 50
553 c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 49
554 c LPD021 Lipodystrophy, Familial Partial, Type 3 48
555 c NML002 Nemaline Myopathy 1 48
556 P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 46
557 c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 45
558 P RPP006 Rippling Muscle Disease 2 45
559 c NML004 Nemaline Myopathy 3 45
560 c PRG039 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 44
561 c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44
562 MSC072 Muscle Cancer 43
563 TBL009 Tibial Muscular Dystrophy 43
564 TNS014 Tenosynovitis 43
565 c LPD030 Lipodystrophy, Familial Partial, Type 5 43
566 c LPD019 Lipodystrophy, Partial, Acquired 43
567 c ART119 Arthrogryposis, Distal, Type 5 43
568 c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 42
569 c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42
570 c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 41
571 c MYP081 Myopathy, Myofibrillar, 6 41
572 c LPD034 Lipodystrophy, Familial Partial, Type 4 41
573 MYP153 Myopathy, Myofibrillar, 9, with Early Respiratory Failure 40
574 PLM030 Pleomorphic Rhabdomyosarcoma 40
575 c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 40
576 c MYP082 Myopathy, Myofibrillar, 2 39
577 P CNT009 Central Core Myopathy 38
578 c LPD040 Lipodystrophy, Familial Partial, Type 1 37
579 MYT003 Myotonic Disease 37
580 c FCS011 Facioscapulohumeral Muscular Dystrophy 2 36
581 c NML025 Nemaline Myopathy 8 35
582 c FML272 Familial Sick Sinus Syndrome 35
583 c LPD036 Lipodystrophy, Familial Partial, Type 6 34
584 MYS010 Myostatin-Related Muscle Hypertrophy 33
585 c MYP095 Myopathy, Distal, 4 33
586 c SVR040 Severe Congenital Nemaline Myopathy 32
587 c NML024 Nemaline Myopathy 11, Autosomal Recessive 32
588 SKL003 Skeletal Muscle Cancer 31
589 c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 31
590 c ADL027 Adult Dermatomyositis 30
591 PRM208 Parameningeal Embryonal Rhabdomyosarcoma 30
592 c MYP119 Myopathy, Myofibrillar, 7 30
593 MYP038 Myopathy, Congenital, Compton-North 30
594 c INT274 Intermediate Congenital Nemaline Myopathy 30
595 PLM004 Pulmonary Artery Leiomyosarcoma 30
596 c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30
597 c MYP022 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 30
598 c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 30
599 c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 29
600 3MT011 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency 29
601 c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29
602 c PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 29
603 INT013 Intramuscular Hemangioma 29
604 ATR076 Atrophic Muscular Disease 28
605 c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28
606 ENT010 Enthesitis-Related Juvenile Idiopathic Arthritis 28
607 c MLG151 Malignant Hyperthermia 5 27
608 c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26
609 c ART157 Arthrogryposis, Distal, Type 2b3 26
610 c MYP098 Myopathy, Centronuclear, 4 25
611 c LPD044 Lipodystrophy, Familial Partial, Type 7 25
612 c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 25
613 MYP086 Myopathy with Extrapyramidal Signs 25
614 SKL002 Skeletal Muscle Neoplasm 25
615 c INF031 Inflammatory Leiomyosarcoma 24
616 c ART131 Arthrogryposis, Distal, Type 4 24
617 c GNR020 Gne-Related Myopathy 23
618 MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 21
619 MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 21
620 c RPP007 Rippling Muscle Disease 1 19
621 c MSC186 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 18
622 c FML227 Familial Partial Lipodystrophy Due to Akt2 Mutations 17
623 MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17
624 c CNG557 Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 16
625 c CNG563 Congenital Myopathy with Cores 16
626 c CNG551 Congenital Muscular Dystrophy-Dystroglycanopathy A7 16
627 c CNG553 Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 16
628 c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 15
629 c CV3001 Cav3-Related Distal Myopathy 15
630 c ADL074 Adult-Onset Distal Myopathy Due to Vcp Mutation 15
631 CNT030 Central Nervous System Leiomyosarcoma 12
632 c KLH005 Klhl9-Related Early-Onset Distal Myopathy 12
633 c ATS431 Autosomal Recessive Distal Myopathy 11
634 c MYP129 Myopathy Due to Malate-Aspartate Shuttle Defect 10
635 GLL014 Gallbladder Rhabdomyosarcoma 10
636 c CNG552 Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 10
637 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 9
638 c CNG547 Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 9
639 c CNG548 Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 9
640 c CNG556 Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 9
641 CHL030 Childhood Botryoid Rhabdomyosarcoma 8
642 c ADL031 Adult Botryoid Rhabdomyosarcoma 7
643 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
644 c BNG038 Benign Autosomal Dominant Myopathy 6
645 MXD015 Mixed Type Rhabdomyosarcoma 5
646 CRP001 Carpal Tunnel Syndrome 67
647 c CRB172 Cerebral Amyloid Angiopathy, Cst3-Related 62
648 c CRB193 Cerebral Amyloid Angiopathy, App-Related 57
649 c CRB176 Cerebral Amyloid Angiopathy, Itm2b-Related, 1 45
650 c CRB174 Cerebral Amyloid Angiopathy, Itm2b-Related, 2 39
651 P HRD084 Hereditary Cerebral Amyloid Angiopathy 31
652 P PRK057 Parkinson Disease, Late-Onset 76
653 c SPN225 Spondyloarthropathy 1 73
654 c RHB024 Rhabdomyosarcoma 2 65
655 P LMY004 Leiomyosarcoma 62
656 c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 61
657 c PRK089 Parkinson Disease 2, Autosomal Recessive Juvenile 60
658 P PTT014 Pitt-Hopkins Syndrome 60
659 P BTH005 Bethlem Myopathy 1 60
660 P DST002 Distal Arthrogryposis 58
661 CRT033 Corticobasal Degeneration 55
662 P ATR001 Atrioventricular Septal Defect 55
663 P SPN052 Spondyloarthropathy 54
664 OCL008 Oculopharyngeal Muscular Dystrophy 54
665 c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 52
666 c ART061 Arthrogryposis, Distal, Type 2a 49
667 c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48
668 P MYF003 Myofibrillar Myopathy 48
669 c PTT029 Pitt-Hopkins-Like Syndrome 1 48
670 c MYP123 Myopathy, Centronuclear, 1 47
671 c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47
672 c CHR521 Charcot-Marie-Tooth Disease, Type 4b1 45
673 MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45
674 c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 45
675 c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 44
676 P MYG005 Myoglobinuria 43
677 c HRD173 Hereditary Late-Onset Parkinson Disease 43
678 c PRK052 Parkinson Disease 17 43
679 c MTC116 Mitochondrial Myopathy, Infantile, Transient 42
680 c PRG001 Progressive Muscular Atrophy 42
681 c PRK021 Parkinson Disease 7, Autosomal Recessive Early-Onset 42
682 TXC011 Toxocariasis 40
683 c NML006 Nemaline Myopathy 5 40
684 c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 39
685 c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39
686 c PRK093 Parkinson Disease 8, Autosomal Dominant 39
687 c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 39
688 c ERL056 Early-Onset Parkinson's Disease 39
689 c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 38
690 c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 38
691 c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38
692 c PRK071 Parkinson Disease 14, Autosomal Recessive 37
693 c PRK090 Parkinson Disease 3, Autosomal Dominant 37
694 c PRK085 Parkinson Disease 1, Autosomal Dominant 37
695 c PTT042 Pitt-Hopkins-Like Syndrome 36
696 MYP093 Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset 33
697 c ART104 Arthrogryposis, Distal, Type 5d 33
698 MTC037 Mitochondrial Phosphate Carrier Deficiency 33
699 c PRK065 Parkinson Disease 20, Early-Onset 33
700 c PRK025 Parkinson Disease 10 33
701 c BTH006 Bethlem Myopathy 2 32
702 c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 31
703 c MYP118 Myopathy, Myofibrillar, 8 30
704 P SNG014 Singleton-Merten Syndrome 30
705 c MYP088 Myopathy, Tubular Aggregate, 2 30
706 c PTT030 Pitt-Hopkins-Like Syndrome 2 30
707 c SNG011 Singleton-Merten Syndrome 1 29
708 c JVN058 Juvenile-Onset Parkinson's Disease 29
709 P NRD034 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 28
710 c PRK081 Parkinson Disease 19a, Juvenile-Onset 27
711 c PRK091 Parkinson Disease 4, Autosomal Dominant 27
712 c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 27
713 c PRK100 Parkinson Disease 23, Autosomal Recessive Early-Onset 26
714 c ART156 Arthrogryposis, Distal, Type 2b2 26
715 c ATR047 Atrioventricular Septal Defect 2 26
716 c PRK098 Parkinson Disease 5, Autosomal Dominant 26
717 SCP005 Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 25
718 c ATR067 Atrioventricular Septal Defect 4 25
719 c PRK094 Parkinson Disease 11, Autosomal Dominant 25
720 c PRK070 Parkinson Disease 21 24
721 c PRK099 Parkinson Disease 18, Autosomal Dominant 24
722 c MSC191 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 24
723 c JVN047 Juvenile Spondyloarthropathy 24
724 c RHB021 Rhabdomyosarcoma, Embryonal, 2 23
725 c PRK096 Parkinson Disease 13, Autosomal Dominant 23
726 c MYP112 Myopathy, Distal, 3 23
727 c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 23
728 c PRK083 Parkinson Disease 22, Autosomal Dominant 23
729 c ATR071 Atrioventricular Septal Defect 5 23
730 c NRD041 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 23
731 BLD037 Bile Duct Rhabdomyosarcoma 23
732 c SNG012 Singleton-Merten Syndrome 2 22
733 c MLG150 Malignant Hyperthermia 4 21
734 c PRK022 Parkinson Disease 12 21
735 c ATR064 Atrioventricular Septal Defect 3 20
736 c MLG152 Malignant Hyperthermia 6 19
737 c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 19
738 c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 18
739 c PRK058 Parkinson Disease 16 17
740 c SPN226 Spondyloarthropathy 2 16
741 c MYG006 Myoglobinuria, Autosomal Dominant 16
742 c SPN256 Spondyloarthropathy 3 14
743 c CNG559 Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 14
744 c CNG554 Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 12
745 c VPS003 Vps35-Related Parkinson Disease 10
746 c CNG549 Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 9
747 c CNG550 Congenital Muscular Dystrophy-Dystroglycanopathy A14 9
748 P HRN027 Hernia, Anterior Diaphragmatic 9
749 MSC157 Muscular Dystrophy, Duchenne Type 71
750 ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 63
751 CHL028 Childhood Type Dermatomyositis 60
752 c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 59
753 P ULL002 Ullrich Congenital Muscular Dystrophy 1 56
754 c RGD003 Rigid Spine Muscular Dystrophy 1 54
755 MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 54
756 CYS005 Cysticercosis 54
757 P NML001 Nemaline Myopathy 51
758 c MYP125 Myopathy, Distal, 1 49
759 c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49
760 c ART120 Arthrogryposis, Distal, Type 3 49
761 c ART155 Arthrogryposis, Distal, Type 2b1 48
762 MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 48
763 c CHR095 Chronic Progressive External Ophthalmoplegia 46
764 c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 46
765 CNT099 Contractural Arachnodactyly, Congenital 45
766 c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 44
767 c RHB023 Rhabdomyosarcoma, Embryonal, 1 43
768 c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41
769 c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 40
770 VRT007 Vertical Talus, Congenital 39
771 c MYP021 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 38
772 c MSC050 Muscular Dystrophy, Congenital, 1b 37
773 c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 36
774 CHR387 Chromosome Xp21 Deletion Syndrome 35
775 c MYT027 Myotonia Congenita, Autosomal Dominant 35
776 c MSC176 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 34
777 c PRG106 Progressive Muscular Dystrophy 33
778 c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 33
779 c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 32
780 c SCK017 Sick Sinus Syndrome 1 32
781 c MSC182 Muscular Dystrophy-Dystroglycanopathy , Type C, 15 30
782 c PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 29
783 c SCK014 Sick Sinus Syndrome 2 28
784 c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 27
785 HYD030 Hydroxykynureninuria 27
786 c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 25
787 c PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 24
788 c ULL003 Ullrich Congenital Muscular Dystrophy 2 24
789 c ART128 Arthrogryposis, Distal, Type 6 23
790 c MYS019 Miyoshi Muscular Dystrophy 2 21
791 c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 21
792 c DPH025 Diaphragmatic Hernia 2 18
793 c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 17
794 c VRL025 Viral Myositis 17
795 c ART054 Arthrogryposis, Distal, Type 2e 16
796 c MYT021 Myotonic Dystrophy 1 66
797 P MSC005 Muscular Dystrophy 66
798 c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64
799 WLK001 Walker-Warburg Syndrome 63
800 ODN023 Odontochondrodysplasia 61
801 MYP136 Myopathy, Centronuclear, X-Linked 51
802 P CNT056 Cantu Syndrome 51
803 c MYP078 Myopathy, Myofibrillar, 3 49
804 LYM009 Lymphocytic Choriomeningitis 46
805 c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 42
806 c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 41
807 c MYT029 Myotonia Congenita, Autosomal Recessive 41
808 c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 39
809 c ART147 Arthrogryposis, Distal, Type 7 38
810 c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 36
811 P MSC002 Muscular Dystrophy-Dystroglycanopathy 35
812 c MSC181 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 35
813 P BTR001 Botryoid Rhabdomyosarcoma 35
814 c MSC179 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 35
815 c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 34
816 c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 32
817 c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32
818 P SPN127 Spondyloepimetaphyseal Dysplasia Joint Laxity 32
819 c SPN263 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 31
820 CMB040 Combined D-2- and L-2-Hydroxyglutaric Aciduria 31
821 c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31
822 c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 30
823 c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 30
824 c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 29
825 c MSC167 Muscular Dystrophy-Dystroglycanopathy , Type a, 11 28
826 c JVN019 Juvenile Temporal Arteritis 27
827 c ART112 Arthrogryposis, Distal, Type 10 27
828 c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27
829 c PRG134 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 25
830 c MSC189 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 24
831 c PRG041 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 24
832 c SPN434 Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 23
833 P RGD004 Rigid Spine Muscular Dystrophy 20
834 c CNT094 Cantú Syndrome and Related Disorders 19
835 c LMB030 Limb-Girdle Muscular Dystrophy Type 1c 14
836 c CNG555 Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 9
837 CHL031 Childhood Vagina Botryoid Rhabdomyosarcoma 7
838 c PMG002 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 5
839 P DRM010 Dermatomyositis 61
840 MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61
841 c MYS033 Miyoshi Muscular Dystrophy 1 56
842 P MYS005 Myositis 56
843 c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53
844 c ATS239 Autosomal Recessive Hypophosphatemic Rickets 45
845 P HRD086 Hereditary Hypophosphatemic Rickets 40
846 c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39
847 c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 38
848 c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 27
849 c HYP369 Hypophosphatemic Rickets, Autosomal Recessive, 2 26
850 c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 26
851 c HYP788 Hypophosphatemic Rickets, Autosomal Recessive, 1 25
852 P RHB003 Rhabdomyosarcoma 62
853 P SPN309 Spinocerebellar Ataxia 6 59
854 c SPN301 Spinocerebellar Ataxia 2 59
855 P INF049 Infantile Myofibromatosis 55
856 c SPN291 Spinocerebellar Ataxia 7 53
857 c SPN294 Spinocerebellar Ataxia 1 52
858 c SPN296 Spinocerebellar Ataxia 17 50
859 c SPN311 Spinocerebellar Ataxia 13 49
860 c SPN101 Spinocerebellar Ataxia 29 48
861 P PRG130 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 48
862 c SPN106 Spinocerebellar Ataxia 5 47
863 c SPN100 Spinocerebellar Ataxia 27 46
864 c SPN293 Spinocerebellar Ataxia 12 45
865 c SPN312 Spinocerebellar Ataxia 14 45
866 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
867 c SPN308 Spinocerebellar Ataxia 28 43
868 c MYF007 Myofibromatosis, Infantile, 1 43
869 c SPN305 Spinocerebellar Ataxia 11 43
870 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 42
871 c SPN314 Spinocerebellar Ataxia 10 42
872 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 41
873 c SPN284 Spinocerebellar Ataxia 38 41
874 c SPN290 Spinocerebellar Ataxia 15 41
875 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 41
876 c SPN304 Spinocerebellar Ataxia 8 41
877 c SPN096 Spinocerebellar Ataxia 21 40
878 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
879 c SPN265 Spinocerebellar Ataxia 36 40
880 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 39
881 c SPN099 Spinocerebellar Ataxia 26 39
882 c SPN283 Spinocerebellar Ataxia 37 39
883 c SPN104 Spinocerebellar Ataxia 34 39
884 c SPN103 Spinocerebellar Ataxia 31 38
885 c SPN097 Spinocerebellar Ataxia 23 37
886 c SPN266 Spinocerebellar Ataxia 35 37
887 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 35
888 c SPN095 Spinocerebellar Ataxia 19 35
889 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 35
890 c SPN299 Spinocerebellar Ataxia 20 34
891 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
892 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 33
893 c SPN094 Spinocerebellar Ataxia 18 33
894 c SPN383 Spinocerebellar Ataxia 42 32
895 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
896 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 32
897 c SPN105 Spinocerebellar Ataxia 4 31
898 c SPN247 Spinocerebellar Ataxia Type 19/22 30
899 c SPN098 Spinocerebellar Ataxia 25 30
900 c SPN286 Spinocerebellar Ataxia 40 30
901 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 29
902 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 28
903 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
904 c PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 28
905 c SPN427 Spinocerebellar Ataxia 48 27
906 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
907 c SPN102 Spinocerebellar Ataxia 30 27
908 c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 27
909 c SPN418 Spinocerebellar Ataxia 44 26
910 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
911 c SPN420 Spinocerebellar Ataxia 46 26
912 c SPN421 Spinocerebellar Ataxia 47 25
913 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
914 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
915 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 24
916 c SPN372 Spinocerebellar Ataxia 43 24
917 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
918 c SPN323 Spinocerebellar Ataxia 41 23
919 c MYF010 Myofibromatosis, Infantile, 2 22
920 c SPN419 Spinocerebellar Ataxia 45 22
921 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
922 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 22
923 c SPN259 Spinocerebellar Ataxia 32 20
924 c SPN107 Spinocerebellar Ataxia 9 18
925 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
926 c CNG558 Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 15
927 c GRD008 Grid2-Related Spinocerebellar Ataxia 7
928 c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 47
929 c PRG131 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 46
930 c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 40
931 c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 28
932 c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59
933 P CTS001 Cutis Laxa 62
934 c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 54
935 c CTS045 Cutis Laxa, Autosomal Dominant 1 51
936 c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 48
937 c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 44
938 c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 44
939 c ATS393 Autosomal Recessive Cutis Laxa Type I 43
940 c ATS392 Autosomal Recessive Cutis Laxa Type Iii 43
941 c CTS023 Cutis Laxa, Autosomal Recessive, Type Iib 42
942 c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 42
943 c CTS041 Cutis Laxa, Autosomal Dominant 3 38
944 c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 37
945 c CTS043 Cutis Laxa, Autosomal Recessive, Type Iid 36
946 c CTS031 Cutis Laxa, Autosomal Dominant 2 30
947 c ACQ027 Acquired Cutis Laxa 26
948 c CTS044 Cutis Laxa, Autosomal Recessive, Type Iic 26
949 c ATS451 Autosomal Recessive Cutis Laxa Type 2 24
950 c LTB003 Ltbp4-Related Cutis Laxa 24
951 c EFM001 Efemp2-Related Cutis Laxa 23
952 c ATP003 Atp6v0a2-Related Cutis Laxa 20
953 c FBL003 Fbln5-Related Cutis Laxa 19



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