# |
Family |
MCID |
Name |
MIFTS |
1 |
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
52 |
2 |
c
|
MSC171 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
40 |
3 |
|
SPN402 |
Spinal Muscular Atrophy, X-Linked 2 |
41 |
4 |
c
|
SPN385 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
32 |
5 |
c
|
SPN395 |
Spinal Muscular Atrophy, Type Ii |
55 |
6 |
c
|
MSC177 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
41 |
7 |
P
|
SPN408 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
52 |
8 |
c
|
SPN398 |
Spinal Muscular Atrophy, Type Iv |
45 |
9 |
c
|
SPN394 |
Spinal Muscular Atrophy, Type Iii |
53 |
10 |
c
|
SPN393 |
Spinal Muscular Atrophy, Type I |
52 |
11 |
c
|
MSC172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
45 |
12 |
c
|
MSC173 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
46 |
13 |
c
|
MSC174 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
42 |
14 |
c
|
MSC183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
36 |
15 |
c
|
NRN036 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
34 |
16 |
c
|
SPN326 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
38 |
17 |
|
SPN188 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
43 |
18 |
c
|
MSC181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
37 |
19 |
c
|
MSC179 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
35 |
20 |
|
MYP152 |
Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures |
26 |
21 |
P
|
SPN423 |
Spinal Muscular Atrophy with Lower Extremity Predominance |
26 |
22 |
|
SPN252 |
Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy |
45 |
23 |
c
|
MSC176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
35 |
24 |
|
EPD050 |
Epidermolysis Bullosa Simplex with Muscular Dystrophy |
56 |
25 |
c
|
MSC184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
34 |
26 |
|
MSC185 |
Muscular Dystrophy, Autosomal Recessive, with Cardiomyopathy and Triangular Tongue |
27 |
27 |
c
|
MSC186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
19 |
28 |
|
OSS014 |
Ossification of the Posterior Longitudinal Ligament of Spine |
49 |
29 |
|
SPN204 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
29 |
30 |
c
|
MSC191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
24 |
31 |
c
|
MSC188 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 8 |
22 |
32 |
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
53 |
33 |
P
|
MSC134 |
Musculocontractural Ehlers-Danlos Syndrome |
40 |
34 |
c
|
SPN191 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
36 |
35 |
c
|
EHL086 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
25 |
36 |
P
|
RGD004 |
Rigid Spine Muscular Dystrophy |
20 |
37 |
|
PRM321 |
Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments |
7 |
38 |
|
SCP002 |
Scapuloperoneal Spinal Muscular Atrophy |
56 |
39 |
|
MSC012 |
Muscular Dystrophy, Duchenne and Becker Type |
34 |
40 |
|
SPN426 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant |
32 |
41 |
c
|
MSC048 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
32 |
42 |
c
|
MSC044 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 |
30 |
43 |
c
|
MSC046 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 |
27 |
44 |
c
|
MSC038 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 |
22 |
45 |
|
AMY098 |
Amyotrophy, Monomelic |
34 |
46 |
|
MSC132 |
Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism |
22 |
47 |
|
FKY002 |
Fukuyama Type Muscular Dystrophy |
16 |
48 |
|
CST006 |
Costocoracoid Ligament, Congenitally Short |
13 |
49 |
c
|
ATS418 |
Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 |
12 |
50 |
c
|
LMB030 |
Limb-Girdle Muscular Dystrophy Type 1c |
12 |
51 |
c
|
SCP012 |
Scapuloperoneal Myopathy, Myh7-Related |
35 |
52 |
P
|
SCP010 |
Scapuloperoneal Myopathy |
33 |
53 |
c
|
MSC099 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 |
26 |
54 |
c
|
MSC187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
24 |
55 |
|
TBL022 |
Tibial Muscular Dystrophy, Tardive |
35 |
56 |
c
|
SPN255 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
26 |
57 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
26 |
58 |
c
|
LMB074 |
Limb-Girdle Muscular Dystrophy Type 1b |
21 |
59 |
c
|
LSS005 |
Lissencephaly 1 |
56 |
60 |
c
|
LSS006 |
Lissencephaly 2 |
52 |
61 |
P
|
LSS002 |
Lissencephaly |
51 |
62 |
c
|
LSS010 |
Lissencephaly 4 |
38 |
63 |
c
|
LSS009 |
Lissencephaly 3 |
37 |
64 |
P
|
LMN012 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
35 |
65 |
P
|
CLP009 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
31 |
66 |
c
|
LSS025 |
Lissencephaly 5 |
26 |
67 |
c
|
LSS035 |
Lissencephaly 8 |
24 |
68 |
c
|
LSS042 |
Lissencephaly 10 |
18 |
69 |
c
|
LPD032 |
Lipodystrophy, Congenital Generalized, Type 1 |
57 |
70 |
c
|
LPD033 |
Lipodystrophy, Congenital Generalized, Type 2 |
54 |
71 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
52 |
72 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
47 |
73 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
46 |
74 |
c
|
EHL080 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
41 |
75 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
38 |
76 |
|
BRW006 |
Brown Syndrome |
26 |
77 |
c
|
LMB073 |
Limb-Girdle Muscular Dystrophy Type 1a |
14 |
78 |
c
|
ATS424 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
13 |
79 |
c
|
PRG001 |
Progressive Muscular Atrophy |
42 |
80 |
|
TNS001 |
Tenosynovial Giant Cell Tumor |
40 |
81 |
|
ADP007 |
Adie Pupil |
39 |
82 |
c
|
MSC182 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 |
29 |
83 |
|
CHL155 |
Childhood Spinal Muscular Atrophy |
29 |
84 |
|
CRB160 |
Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes |
25 |
85 |
|
MSC141 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
21 |
86 |
|
TND002 |
Tendons, Extensor, of Fingers, Anomalous Insertion of |
16 |
87 |
|
MLG019 |
Malignant Giant Cell Tumor of the Tendon Sheath |
29 |
88 |
|
VCL008 |
Vacuolar Neuromyopathy |
22 |
89 |
|
MSC133 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus |
16 |
90 |
|
SPN399 |
Spinal Muscular Atrophy, Ryukyuan Type |
13 |
91 |
|
SPN278 |
Spinal Muscular Atrophy with Respiratory Distress Type 2 |
7 |
92 |
c
|
PMG002 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
7 |
93 |
|
FBR011 |
Fibrodysplasia Ossificans Progressiva |
67 |
94 |
|
SPN267 |
Spinal Muscular Atrophy, Jokela Type |
27 |
95 |
c
|
SPN380 |
Spinal Muscular Atrophy with Congenital Bone Fractures 2 |
27 |
96 |
c
|
MSC189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
24 |
97 |
|
SPN428 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant |
23 |
98 |
|
SCP009 |
Scapuloperoneal Myopathy, X-Linked Dominant |
30 |
99 |
c
|
ULL003 |
Ullrich Congenital Muscular Dystrophy 2 |
25 |
100 |
c
|
SPN444 |
Spinal Muscular Atrophy Type 0 |
17 |
101 |
|
TND001 |
Tendon Sheath Lipoma |
12 |
102 |
|
UTR041 |
Uterine Ligament Cancer |
8 |
103 |
c
|
DYS191 |
Dystonia 1, Torsion, Autosomal Dominant |
50 |
104 |
c
|
XLN241 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
42 |
105 |
c
|
DYS067 |
Dystonia 6, Torsion |
37 |
106 |
|
WLN001 |
Welander Distal Myopathy |
36 |
107 |
|
MDN008 |
Median Arcuate Ligament Syndrome |
35 |
108 |
|
BRW002 |
Brown's Tendon Sheath Syndrome |
28 |
109 |
c
|
DYS063 |
Dystonia 2, Torsion, Autosomal Recessive |
27 |
110 |
|
MYP017 |
Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay |
25 |
111 |
c
|
TRS025 |
Torsion Dystonia 2 |
24 |
112 |
c
|
DYS185 |
Dystonia 13, Torsion, Autosomal Dominant |
24 |
113 |
c
|
DYS068 |
Dystonia 7, Torsion |
24 |
114 |
|
CNG428 |
Congenital Muscular Dystrophy Without Intellectual Disability |
23 |
115 |
c
|
DYS184 |
Dystonia 17, Torsion, Autosomal Recessive |
19 |
116 |
|
MSC158 |
Muscular Dystrophy, Scapulohumeral |
18 |
117 |
|
ATS237 |
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
13 |
118 |
c
|
TRS027 |
Torsion Dystonia 4 |
13 |
119 |
c
|
LMN013 |
Laminin Subunit Alpha 2-Related Muscular Dystrophy |
13 |
120 |
P
|
TRS005 |
Torsion Dystonia with Onset in Infancy |
12 |
121 |
|
MSC156 |
Muscular Dystrophy, Progressive Pectorodorsal |
9 |
122 |
c
|
CLP008 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 |
5 |
123 |
c
|
TRS028 |
Torsion Dystonia 17 |
5 |
124 |
|
LMN014 |
Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 |
4 |
125 |
|
ADL062 |
Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type |
3 |
126 |
|
PGM001 |
Pigmented Villonodular Synovitis |
56 |
127 |
|
PST020 |
Postpoliomyelitis Syndrome |
43 |
128 |
|
URG005 |
Uruguay Faciocardiomusculoskeletal Syndrome |
40 |
129 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
39 |
130 |
|
DQR001 |
De Quervain Disease |
28 |
131 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
68 |
132 |
|
INT146 |
Intervertebral Disc Disease |
63 |
133 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
55 |
134 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
52 |
135 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
51 |
136 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
51 |
137 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
51 |
138 |
|
ENT004 |
Enthesopathy |
49 |
139 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
49 |
140 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
46 |
141 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
45 |
142 |
P
|
PRX014 |
Proximal Spinal Muscular Atrophy |
45 |
143 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
45 |
144 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
44 |
145 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
44 |
146 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
44 |
147 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
44 |
148 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
149 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
43 |
150 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
151 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
42 |
152 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
41 |
153 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
40 |
154 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
40 |
155 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
39 |
156 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
38 |
157 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
38 |
158 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
38 |
159 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
37 |
160 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
36 |
161 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
35 |
162 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
35 |
163 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
34 |
164 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
34 |
165 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
32 |
166 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
167 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
30 |
168 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
29 |
169 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
27 |
170 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
27 |
171 |
|
ATM005 |
Autoimmune Disease of Musculoskeletal System |
25 |
172 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
22 |
173 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
21 |
174 |
|
CML001 |
Cumulative Trauma Disorders |
20 |
175 |
c
|
ATS425 |
Autosomal Recessive Distal Hereditary Motor Neuronopathy |
19 |
176 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
18 |
177 |
c
|
MSC199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
16 |
178 |
|
KCH001 |
Kocher-Debre-Semelaigne Syndrome |
13 |
179 |
|
EMR021 |
Emery-Dreifuss Syndrome |
12 |
180 |
|
MST003 |
Masters-Allen Syndrome |
12 |
181 |
|
SPN083 |
Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome |
12 |
182 |
|
CLL037 |
Collagen Vi Related Muscular Dystrophy |
9 |
183 |
|
SPN387 |
Spinal Muscular Atrophy, Segmental |
7 |
184 |
|
MSC031 |
Muscular Phosphorylase Kinase Deficiency |
6 |
185 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
186 |
|
UTR060 |
Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease |
5 |
187 |
P
|
SPN442 |
Spinal Muscular Atrophy with Lower Extremity Predominante 2b |
4 |
188 |
c
|
SPN441 |
Spinal Muscular Atrophy with Lower Extremity Predominance 2a |
4 |
189 |
c
|
SPN443 |
Spinal Muscular Atrophy with Lower Extremity Predominance 1 |
4 |
190 |
c
|
GLY008 |
Glycogen Storage Disease Ii |
70 |
191 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
64 |
192 |
c
|
GLY060 |
Glycogen Storage Disease Ia |
63 |
193 |
c
|
GLY004 |
Glycogen Storage Disease V |
62 |
194 |
P
|
SPN046 |
Spinal Muscular Atrophy |
62 |
195 |
P
|
GLY013 |
Glycogen Storage Disease |
60 |
196 |
c
|
GLY003 |
Glycogen Storage Disease Iii |
59 |
197 |
c
|
GLY007 |
Glycogen Storage Disease Iv |
58 |
198 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
57 |
199 |
c
|
GLY005 |
Glycogen Storage Disease Vi |
56 |
200 |
c
|
GLY011 |
Glycogen Storage Disease Vii |
55 |
201 |
P
|
MYT002 |
Myotonic Dystrophy |
49 |
202 |
|
END021 |
Endomyocardial Fibrosis |
49 |
203 |
|
STP011 |
Stapes Ankylosis with Broad Thumbs and Toes |
49 |
204 |
|
BRS064 |
Bursitis |
48 |
205 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
48 |
206 |
P
|
TRT019 |
Torticollis |
48 |
207 |
c
|
GLY098 |
Glycogen Storage Disease, Type Ixd |
47 |
208 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
209 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
45 |
210 |
c
|
GLY097 |
Glycogen Storage Disease Ixb |
44 |
211 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
44 |
212 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
43 |
213 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
43 |
214 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
41 |
215 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
41 |
216 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
40 |
217 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
40 |
218 |
c
|
GLY016 |
Glycogen Storage Disease Ib |
40 |
219 |
c
|
GLY009 |
Glycogen Storage Disease Xv |
39 |
220 |
c
|
PNT010 |
Pontocerebellar Hypoplasia Type 1 |
39 |
221 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
37 |
222 |
c
|
GLY044 |
Glycogen Storage Disease Ixc |
37 |
223 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
37 |
224 |
c
|
DYS163 |
Dystonia 4, Torsion, Autosomal Dominant |
35 |
225 |
c
|
GLY057 |
Glycogen Storage Disease X |
34 |
226 |
c
|
PRG106 |
Progressive Muscular Dystrophy |
33 |
227 |
|
CNG427 |
Congenital Muscular Dystrophy with Intellectual Disability |
32 |
228 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
32 |
229 |
c
|
GLY043 |
Glycogen Storage Disease Xii |
31 |
230 |
|
ERL030 |
Early-Onset Generalized Limb-Onset Dystonia |
31 |
231 |
c
|
CRN134 |
Cornelia De Lange Syndrome 2 |
31 |
232 |
c
|
CNG441 |
Congenital Muscular Dystrophy Due to Dystroglycanopathy |
30 |
233 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
30 |
234 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
29 |
235 |
|
CNG426 |
Congenital Muscular Dystrophy with Cerebellar Involvement |
29 |
236 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
28 |
237 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
27 |
238 |
c
|
GLY023 |
Glycogen Storage Disease Type 0 |
27 |
239 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
27 |
240 |
c
|
LM2001 |
Lama2-Related Muscular Dystrophy |
26 |
241 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
25 |
242 |
c
|
GLY059 |
Glycogen Storage Disease Xiii |
25 |
243 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
25 |
244 |
|
NDL002 |
Nodular Tenosynovitis |
24 |
245 |
|
MSC193 |
Muscular Lipidosis |
23 |
246 |
c
|
GLY006 |
Glycogen Storage Disease Viii |
23 |
247 |
c
|
CNG129 |
Congenital Torticollis |
23 |
248 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
22 |
249 |
|
MSC129 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
22 |
250 |
c
|
PNT053 |
Pontocerebellar Hypoplasia, Type 13 |
22 |
251 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
22 |
252 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
21 |
253 |
|
OVR077 |
Overuse Syndrome |
20 |
254 |
|
RPT005 |
Repetitive Motion Disorders |
18 |
255 |
|
MSC026 |
Muscular Dystrophy White Matter Spongiosis |
15 |
256 |
|
OCL023 |
Ocular Muscular Dystrophy |
14 |
257 |
c
|
EXS014 |
Exosc3-Related Pontocerebellar Hypoplasia |
14 |
258 |
|
CHR644 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined |
13 |
259 |
|
MSC192 |
Muscular Glycogenosis |
13 |
260 |
|
SPN386 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
13 |
261 |
c
|
ATS428 |
Autosomal Recessive Distal Hereditary Motor Neuropathy |
12 |
262 |
|
SPN396 |
Spinal Muscular Atrophy with Mental Retardation |
12 |
263 |
|
CNG393 |
Congenital Muscular Dystrophy with Hyperlaxity |
12 |
264 |
|
XLN239 |
X-Linked Distal Hereditary Motor Neuropathy |
12 |
265 |
c
|
ATS433 |
Autosomal Dominant Proximal Spinal Muscular Atrophy |
12 |
266 |
|
TBL002 |
Tibial Collateral Ligament Bursitis |
11 |
267 |
|
HYP751 |
Hypertrophia Musculorum Vera |
11 |
268 |
|
MSC130 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
10 |
269 |
|
RPT006 |
Repetitive Stress Injuries |
10 |
270 |
|
MSC153 |
Muscular Dystrophy, Cardiac Type |
9 |
271 |
|
SPN341 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
9 |
272 |
|
MSC151 |
Muscular Hypertonia, Lethal |
9 |
273 |
|
UDD002 |
Udd Distal Myopathy - Tibial Muscular Dystrophy |
9 |
274 |
|
MSC194 |
Muscular Tumor |
9 |
275 |
|
MSC144 |
Muscular Atrophy, Malignant Neurogenic |
9 |
276 |
|
MSC149 |
Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy |
9 |
277 |
|
MSC147 |
Muscular Hypoplasia, Congenital Universal, of Krabbe |
8 |
278 |
|
MSC150 |
Muscular Dystrophy, Congenital, with Rapid Progression |
8 |
279 |
|
MSC146 |
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries |
8 |
280 |
|
MSC154 |
Muscular Dystrophy, Hemizygous Lethal Type |
7 |
281 |
|
CLC062 |
Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm |
7 |
282 |
|
MSC197 |
Muscular Channelopathy |
7 |
283 |
|
MSC145 |
Muscular Dystrophy, Barnes Type |
7 |
284 |
|
CHR643 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita |
7 |
285 |
|
MSC155 |
Muscular Dystrophy, Mabry Type |
6 |
286 |
|
SYM016 |
Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers |
5 |
287 |
|
MSC160 |
Muscular Dystrophy, Congenital, with Cerebellar Atrophy |
4 |
288 |
|
GNG007 |
Ganglion or Cyst of Synovium/tendon/bursa |
4 |
289 |
|
LTN025 |
Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies |
4 |
290 |
|
FBL001 |
Fibular Collateral Ligament Bursitis |
4 |
291 |
|
GNR047 |
Generalized Bulbospinal Muscular Atrophy |
3 |
292 |
|
BLB006 |
Bulbospinal Muscular Atrophy of Adult |
3 |
293 |
|
BLB007 |
Bulbospinal Muscular Atrophy of Childhood |
3 |
294 |
|
MSC198 |
Musculoskeletal Disease with Cataract |
3 |
295 |
c
|
CNG061 |
Congenital Benign Spinal Muscular Atrophy Dominant |
3 |
296 |
|
GNT172 |
Genetic Neurological Muscular Channelopathy |
3 |
297 |
c
|
NRL028 |
Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect |
3 |
298 |
c
|
NRL031 |
Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect |
3 |
299 |
|
CNG443 |
Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability |
1 |
300 |
|
MSC025 |
Muscular Dystrophy Limb Girdle Type 2a, Erb Type |
1 |
301 |
|
MSC030 |
Muscular Fibrosis Multifocal Obstructed Vessels |
1 |
302 |
c
|
SPN225 |
Spondyloarthropathy 1 |
73 |
303 |
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
304 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
61 |
305 |
|
MYP136 |
Myopathy, Centronuclear, X-Linked |
59 |
306 |
P
|
CNT004 |
Centronuclear Myopathy |
59 |
307 |
|
FBR047 |
Fibromyalgia |
58 |
308 |
P
|
SCK002 |
Sick Sinus Syndrome |
55 |
309 |
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
310 |
P
|
SPN052 |
Spondyloarthropathy |
54 |
311 |
c
|
MYP072 |
Myopathy, Myofibrillar, 1 |
54 |
312 |
P
|
STS003 |
Sitosterolemia |
54 |
313 |
c
|
MYP123 |
Myopathy, Centronuclear, 1 |
54 |
314 |
|
TND005 |
Tendinitis |
54 |
315 |
|
GSG001 |
Gas Gangrene |
53 |
316 |
|
ANK001 |
Ankylosis |
51 |
317 |
c
|
MYP131 |
Myopathy, Centronuclear, 2 |
51 |
318 |
c
|
NML003 |
Nemaline Myopathy 2 |
48 |
319 |
|
MSC028 |
Muscular Dystrophy, Congenital, Megaconial Type |
46 |
320 |
c
|
NML004 |
Nemaline Myopathy 3 |
46 |
321 |
P
|
CNT009 |
Central Core Myopathy |
46 |
322 |
c
|
PRG039 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 |
45 |
323 |
c
|
STS010 |
Sitosterolemia 1 |
44 |
324 |
P
|
MTC004 |
Mitochondrial Encephalomyopathy |
44 |
325 |
P
|
MYG005 |
Myoglobinuria |
44 |
326 |
|
DPH021 |
Diaphragm Disease |
43 |
327 |
|
MYF002 |
Myofascial Pain Syndrome |
42 |
328 |
|
SPN009 |
Spindle Cell Rhabdomyosarcoma |
41 |
329 |
|
MYS001 |
Myositis Ossificans |
41 |
330 |
|
PLM030 |
Pleomorphic Rhabdomyosarcoma |
40 |
331 |
c
|
NML005 |
Nemaline Myopathy 4 |
39 |
332 |
P
|
MYP105 |
Myopathy, Myosin Storage, Autosomal Dominant |
39 |
333 |
c
|
NML006 |
Nemaline Myopathy 5 |
39 |
334 |
|
3MT011 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
37 |
335 |
c
|
FML272 |
Familial Sick Sinus Syndrome |
34 |
336 |
|
DPH006 |
Diaphragmatic Eventration |
33 |
337 |
c
|
SCK017 |
Sick Sinus Syndrome 1 |
33 |
338 |
c
|
MYG007 |
Myoglobinuria, Recurrent |
33 |
339 |
c
|
MYP098 |
Myopathy, Centronuclear, 4 |
33 |
340 |
c
|
NML021 |
Nemaline Myopathy 9 |
33 |
341 |
|
MYP038 |
Myopathy, Congenital, Compton-North |
32 |
342 |
c
|
MYP118 |
Myopathy, Myofibrillar, 8 |
31 |
343 |
c
|
MYP088 |
Myopathy, Tubular Aggregate, 2 |
31 |
344 |
c
|
MYP148 |
Myopathy, Centronuclear, 5 |
30 |
345 |
|
CLC004 |
Calcific Tendinitis |
30 |
346 |
P
|
RDC010 |
Reducing Body Myopathy |
30 |
347 |
c
|
SCK014 |
Sick Sinus Syndrome 2 |
30 |
348 |
c
|
STS011 |
Sitosterolemia 2 |
30 |
349 |
|
3MT008 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
29 |
350 |
|
MYX006 |
Myxoid Leiomyosarcoma |
28 |
351 |
c
|
MYG004 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
28 |
352 |
|
PLM004 |
Pulmonary Artery Leiomyosarcoma |
27 |
353 |
P
|
MYP108 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
27 |
354 |
|
MYP150 |
Myopathy, Centronuclear, 6, with Fiber-Type Disproportion |
26 |
355 |
|
CNG032 |
Congenital Structural Myopathy |
26 |
356 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
26 |
357 |
c
|
RDC017 |
Reducing Body Myopathy 1a |
26 |
358 |
c
|
PRG041 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 |
26 |
359 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
25 |
360 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
25 |
361 |
c
|
ATS432 |
Autosomal Dominant Distal Myopathy |
23 |
362 |
c
|
JVN047 |
Juvenile Spondyloarthropathy |
23 |
363 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
23 |
364 |
|
OVR035 |
Ovary Leiomyosarcoma |
23 |
365 |
c
|
MYP116 |
Myopathy, Distal, 5 |
23 |
366 |
c
|
SCK022 |
Sick Sinus Syndrome 3 |
23 |
367 |
|
GRN036 |
Granulomatous Myositis |
22 |
368 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
21 |
369 |
|
MSC004 |
Muscle Tissue Disease |
21 |
370 |
|
MYS002 |
Myositis Fibrosa |
19 |
371 |
|
TBL004 |
Tibialis Tendinitis |
19 |
372 |
c
|
RPP007 |
Rippling Muscle Disease 1 |
18 |
373 |
c
|
MYP158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
18 |
374 |
|
MYP039 |
Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked |
17 |
375 |
c
|
CNG563 |
Congenital Myopathy with Cores |
16 |
376 |
|
CYL003 |
Cylindrical Spirals Myopathy |
16 |
377 |
c
|
SPN226 |
Spondyloarthropathy 2 |
16 |
378 |
c
|
MYG006 |
Myoglobinuria, Autosomal Dominant |
15 |
379 |
c
|
CV3001 |
Cav3-Related Distal Myopathy |
15 |
380 |
c
|
ADL074 |
Adult-Onset Distal Myopathy Due to Vcp Mutation |
14 |
381 |
c
|
SPN256 |
Spondyloarthropathy 3 |
13 |
382 |
P
|
MYP124 |
Myopathy, Distal, Infantile-Onset |
13 |
383 |
|
TRC088 |
Trochleitis |
12 |
384 |
c
|
INT382 |
Intermediate Atrioventricular Septal Defect |
11 |
385 |
c
|
KLH005 |
Klhl9-Related Early-Onset Distal Myopathy |
11 |
386 |
|
GRN012 |
Granular Cell Leiomyosarcoma |
11 |
387 |
c
|
ATS431 |
Autosomal Recessive Distal Myopathy |
10 |
388 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
7 |
389 |
|
MDS008 |
Mediastinum Rhabdomyosarcoma |
6 |
390 |
c
|
FST011 |
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy |
5 |
391 |
|
MYP005 |
Myopathy of Extraocular Muscle |
4 |
392 |
c
|
NRN037 |
Neuronopathy, Distal Hereditary Motor, Type Va |
49 |
393 |
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
59 |
394 |
c
|
SPN355 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
31 |
395 |
P
|
SPN382 |
Spinal Muscular Atrophy with Congenital Bone Fractures 1 |
26 |
396 |
c
|
NRN024 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
21 |
397 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
33 |
398 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
29 |
399 |
c
|
NRN035 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
33 |
400 |
c
|
NRN025 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
32 |
401 |
|
RND001 |
Round Ligament Malignant Neoplasm |
8 |
402 |
c
|
NRN026 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
28 |
403 |
c
|
MSC045 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 3 |
33 |
404 |
c
|
MSC127 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 |
30 |
405 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
30 |
406 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
30 |
407 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
29 |
408 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
28 |
409 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
28 |
410 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
27 |
411 |
c
|
NRN027 |
Neuronopathy, Distal Hereditary Motor, Type I |
27 |
412 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
25 |
413 |
|
DSM004 |
Desmoid Tumor |
64 |
414 |
P
|
CHR640 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
56 |
415 |
|
MSC077 |
Muscle Eye Brain Disease |
47 |
416 |
c
|
CHR408 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
43 |
417 |
c
|
XLN110 |
X-Linked Charcot-Marie-Tooth Disease |
42 |
418 |
c
|
CHR641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
34 |
419 |
c
|
CHR505 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
33 |
420 |
c
|
CHR642 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
30 |
421 |
c
|
MSC097 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 |
27 |
422 |
|
VSC049 |
Visceral Myopathy, Familial, with External Ophthalmoplegia |
26 |
423 |
c
|
CHR697 |
Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
22 |
424 |
|
BRD006 |
Broad Ligament Malignant Neoplasm |
8 |
425 |
|
DFF006 |
Diffuse Idiopathic Skeletal Hyperostosis |
48 |
426 |
P
|
CHR453 |
Charcot-Marie-Tooth Hereditary Neuropathy |
44 |
427 |
c
|
CHR121 |
Charcot-Marie-Tooth Neuropathy X Type 5 |
15 |
428 |
|
QZM001 |
Qazi Markouizos Syndrome |
14 |
429 |
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
65 |
430 |
P
|
CHR625 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
57 |
431 |
c
|
CHR516 |
Charcot-Marie-Tooth Disease, Type 4c |
50 |
432 |
P
|
HRD094 |
Hereditary Motor and Sensory Neuropathy, Type Iic |
49 |
433 |
c
|
CHR420 |
Charcot-Marie-Tooth Disease, Type 4j |
48 |
434 |
c
|
CHR519 |
Charcot-Marie-Tooth Disease, Type 4b2 |
48 |
435 |
c
|
CHR484 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
47 |
436 |
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
47 |
437 |
c
|
CHR376 |
Charcot-Marie-Tooth Disease, Type 4d |
46 |
438 |
c
|
CHR421 |
Charcot-Marie-Tooth Disease, Type 4h |
46 |
439 |
c
|
CHR504 |
Charcot-Marie-Tooth Disease, Type 4b3 |
45 |
440 |
c
|
CHR656 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
43 |
441 |
c
|
CHR670 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
43 |
442 |
c
|
CHR371 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
41 |
443 |
c
|
CHR522 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
41 |
444 |
c
|
CHR653 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
40 |
445 |
c
|
CHR658 |
Charcot-Marie-Tooth Disease, Recessive Intermediate a |
38 |
446 |
c
|
CHR666 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
34 |
447 |
c
|
CHR609 |
Charcot-Marie-Tooth Disease, Type 4k |
34 |
448 |
c
|
CHR481 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
32 |
449 |
c
|
HRD138 |
Hereditary Motor and Sensory Neuropathy V |
32 |
450 |
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
31 |
451 |
c
|
CHR491 |
Charcot-Marie-Tooth Disease, Dominant Intermediate a |
30 |
452 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
27 |
453 |
c
|
CHR480 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
27 |
454 |
c
|
CHR026 |
Charcot-Marie-Tooth Disease Type X |
25 |
455 |
c
|
CHR676 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
24 |
456 |
c
|
CHR699 |
Charcot-Marie-Tooth Disease Type 2a2a |
23 |
457 |
c
|
CHR135 |
Charcot-Marie-Tooth Disease Type 2a |
22 |
458 |
c
|
CHR681 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g |
21 |
459 |
c
|
CHR549 |
Charcot-Marie-Tooth Disease Type 2l |
20 |
460 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
19 |
461 |
c
|
CHR700 |
Charcot-Marie-Tooth Disease Type 2a2b |
17 |
462 |
c
|
CHR571 |
Charcot-Marie-Tooth Disease Type 5 |
17 |
463 |
c
|
GDP003 |
Gdap1-Related Hereditary Motor and Sensory Neuropathy |
13 |
464 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
12 |
465 |
c
|
ATS165 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g |
12 |
466 |
c
|
CHR701 |
Charcot-Marie-Tooth Disease Type 1g |
9 |
467 |
c
|
DNJ004 |
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 |
8 |
468 |
c
|
ATS092 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
7 |
469 |
c
|
ATS289 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
7 |
470 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
6 |
471 |
c
|
CHR572 |
Charcot-Marie-Tooth Disease Type 7 |
5 |
472 |
|
CNT105 |
Central Core Disease of Muscle |
60 |
473 |
c
|
NRN040 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
45 |
474 |
|
SLH001 |
Salih Myopathy |
36 |
475 |
P
|
ATS426 |
Autosomal Dominant Distal Hereditary Motor Neuronopathy |
34 |
476 |
|
NCR015 |
Necrotizing Autoimmune Myopathy |
26 |
477 |
|
ENC048 |
Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy |
23 |
478 |
|
UTR040 |
Uterine Ligament Adenocarcinoma |
8 |
479 |
|
UTR002 |
Uterine Ligament Mucinous Adenocarcinoma |
5 |
480 |
|
UTR027 |
Uterine Ligament Clear Cell Adenocarcinoma |
5 |
481 |
|
UTR012 |
Uterine Ligament Serous Adenocarcinoma |
5 |
482 |
|
UTR001 |
Uterine Ligament Endometrioid Adenocarcinoma |
5 |
483 |
P
|
MYT023 |
Myotonia Congenita |
56 |
484 |
P
|
ART106 |
Arterial Calcification, Generalized, of Infancy, 1 |
46 |
485 |
c
|
MYT029 |
Myotonia Congenita, Autosomal Recessive |
41 |
486 |
|
MTR007 |
Motor Peripheral Neuropathy |
39 |
487 |
|
NRM016 |
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive |
37 |
488 |
c
|
NRN018 |
Neuronopathy, Distal Hereditary Motor, Type Iic |
35 |
489 |
c
|
MYT027 |
Myotonia Congenita, Autosomal Dominant |
34 |
490 |
c
|
NRN041 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
34 |
491 |
c
|
DST106 |
Distal Hereditary Motor Neuronopathy Type 2 |
34 |
492 |
P
|
DST101 |
Distal Hereditary Motor Neuropathies |
32 |
493 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
27 |
494 |
c
|
DST105 |
Distal Hereditary Motor Neuronopathy Type 7 |
25 |
495 |
|
PLM104 |
Palmoplantar Keratoderma, Nagashima Type |
23 |
496 |
|
WRD018 |
Werdnig-Hoffman Disease |
23 |
497 |
|
CMP076 |
Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases |
22 |
498 |
|
PRT108 |
Puerto Rican Infant Hypotonia Syndrome |
20 |
499 |
c
|
NRN042 |
Neuronopathy, Distal Hereditary Motor, Type Ix |
18 |
500 |
c
|
DST092 |
Distal Hereditary Motor Neuropathy Type 7 |
15 |
501 |
|
PRN061 |
Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures |
14 |
502 |
|
MSC159 |
Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers |
11 |
503 |
|
SPN397 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
9 |
504 |
|
SPR121 |
Superior Transverse Scapular Ligament, Calcification of, Familial |
8 |
505 |
|
SPN436 |
Spinal Muscular Atrophy Associated with Central Nervous System Anomaly |
3 |
506 |
P
|
NRL027 |
Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect |
3 |
507 |
c
|
NRL029 |
Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect |
3 |
508 |
c
|
NRL030 |
Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect |
3 |
509 |
P
|
MYP004 |
Myopathy |
70 |
510 |
c
|
MSC165 |
Muscular Dystrophy, Congenital, Lmna-Related |
66 |
511 |
P
|
MTR014 |
Motor Neuron Disease |
65 |
512 |
P
|
LMY004 |
Leiomyosarcoma |
63 |
513 |
P
|
FCS012 |
Facioscapulohumeral Muscular Dystrophy 1 |
62 |
514 |
c
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
60 |
515 |
|
PSD012 |
Pseudoachondroplasia |
58 |
516 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
57 |
517 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
55 |
518 |
|
CNG046 |
Congenital Fiber-Type Disproportion |
54 |
519 |
|
MYM001 |
Myoma |
54 |
520 |
P
|
MYP087 |
Myopathy, Tubular Aggregate, 1 |
53 |
521 |
|
MYP153 |
Myopathy, Myofibrillar, 9, with Early Respiratory Failure |
52 |
522 |
c
|
ART120 |
Arthrogryposis, Distal, Type 3 |
51 |
523 |
P
|
MYS079 |
Miyoshi Muscular Dystrophy |
50 |
524 |
c
|
PRG038 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 |
50 |
525 |
|
SNT005 |
Sinoatrial Node Disease |
49 |
526 |
c
|
NML002 |
Nemaline Myopathy 1 |
49 |
527 |
|
MYP100 |
Myopathy, X-Linked, with Excessive Autophagy |
48 |
528 |
P
|
MYF003 |
Myofibrillar Myopathy |
48 |
529 |
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
47 |
530 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
45 |
531 |
c
|
CHR517 |
Charcot-Marie-Tooth Disease, Type 4a |
45 |
532 |
|
SPS057 |
Spasticity |
45 |
533 |
c
|
MSC093 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
45 |
534 |
|
MYP056 |
Myopathy, X-Linked, with Postural Muscle Atrophy |
44 |
535 |
c
|
FCS011 |
Facioscapulohumeral Muscular Dystrophy 2 |
43 |
536 |
P
|
HYP265 |
Hypotonia |
43 |
537 |
|
PYM001 |
Pyomyositis |
41 |
538 |
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
40 |
539 |
c
|
ATS277 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
40 |
540 |
c
|
MSC100 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
40 |
541 |
c
|
ATS298 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
40 |
542 |
c
|
NML010 |
Nemaline Myopathy 7 |
40 |
543 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
39 |
544 |
|
SMT002 |
Smooth Muscle Tumor |
38 |
545 |
c
|
MYP022 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 |
38 |
546 |
c
|
MYS049 |
Myasthenic Syndrome, Congenital, 3b, Fast-Channel |
36 |
547 |
c
|
NML022 |
Nemaline Myopathy 10 |
36 |
548 |
c
|
MSC180 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
35 |
549 |
|
MYT003 |
Myotonic Disease |
35 |
550 |
c
|
ART060 |
Arthrogryposis, Distal, Type 1b |
35 |
551 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
35 |
552 |
|
CHR387 |
Chromosome Xp21 Deletion Syndrome |
35 |
553 |
|
SML014 |
Small Intestine Leiomyosarcoma |
34 |
554 |
c
|
MYP106 |
Myopathy, Myosin Storage, Autosomal Recessive |
33 |
555 |
|
SPN253 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures |
33 |
556 |
c
|
ATS246 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
32 |
557 |
c
|
ATS299 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
32 |
558 |
c
|
ATS217 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
32 |
559 |
c
|
ATS279 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
31 |
560 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
31 |
561 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
30 |
562 |
c
|
ATS280 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
30 |
563 |
|
DST103 |
Distal Muscular Dystrophy with Anterior Tibial Onset |
30 |
564 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
30 |
565 |
|
EPT011 |
Epithelioid Leiomyosarcoma |
30 |
566 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
29 |
567 |
c
|
MSC058 |
Muscular Dystrophy, Limb-Girdle, Type 1h |
29 |
568 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
29 |
569 |
c
|
PRG128 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 |
28 |
570 |
|
MYB001 |
Myoblastoma |
28 |
571 |
c
|
ATS207 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
28 |
572 |
c
|
NML007 |
Nemaline Myopathy 6 |
28 |
573 |
P
|
MYS047 |
Myasthenic Syndrome, Congenital, 1b, Fast-Channel |
28 |
574 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
28 |
575 |
|
CNV006 |
Conventional Leiomyosarcoma |
27 |
576 |
|
LNG023 |
Lung Leiomyosarcoma |
27 |
577 |
|
INT013 |
Intramuscular Hemangioma |
26 |
578 |
|
PTL003 |
Patellar Tendinitis |
26 |
579 |
c
|
INF031 |
Inflammatory Leiomyosarcoma |
26 |
580 |
c
|
MYS060 |
Myasthenic Syndrome, Congenital, 4b, Fast-Channel |
25 |
581 |
|
CLN012 |
Colon Leiomyosarcoma |
25 |
582 |
|
IMG002 |
Imagawa-Matsumoto Syndrome |
25 |
583 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
24 |
584 |
c
|
ART102 |
Arterial Calcification, Generalized, of Infancy, 2 |
24 |
585 |
|
BCP001 |
Bicipital Tenosynovitis |
24 |
586 |
c
|
INF065 |
Infantile Hypotonia |
24 |
587 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
23 |
588 |
c
|
PRG129 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 |
22 |
589 |
c
|
MYP107 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 |
22 |
590 |
c
|
PRG134 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 |
22 |
591 |
|
ART137 |
Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect |
22 |
592 |
|
WND002 |
Wandering Spleen |
22 |
593 |
c
|
ATS211 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
22 |
594 |
|
EPD011 |
Epidemic Pleurodynia |
22 |
595 |
|
PLM003 |
Pulmonary Vein Leiomyosarcoma |
22 |
596 |
c
|
MYS019 |
Miyoshi Muscular Dystrophy 2 |
21 |
597 |
c
|
ATS333 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
19 |
598 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
18 |
599 |
P
|
WHS002 |
Whistling Face Syndrome, Recessive Form |
18 |
600 |
|
CNT021 |
Central Nervous System Rhabdomyosarcoma |
17 |
601 |
|
MYS010 |
Myostatin-Related Muscle Hypertrophy |
17 |
602 |
|
FTL045 |
Fatal Infantile Hypertonic Myofibrillar Myopathy |
17 |
603 |
c
|
ATS332 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
16 |
604 |
|
FLP002 |
Floppy Infant Syndrome |
14 |
605 |
|
DST013 |
Distal Myopathy with Vocal Cord Weakness |
13 |
606 |
|
SPR003 |
Superior Vena Cava Leiomyosarcoma |
13 |
607 |
|
CNT030 |
Central Nervous System Leiomyosarcoma |
12 |
608 |
|
LRY014 |
Larynx Leiomyosarcoma |
11 |
609 |
|
CHL054 |
Childhood Pleomorphic Rhabdomyosarcoma |
11 |
610 |
|
MDS017 |
Mediastinum Leiomyosarcoma |
9 |
611 |
|
FLL007 |
Fallopian Tube Leiomyosarcoma |
8 |
612 |
|
OVR023 |
Ovary Rhabdomyosarcoma |
7 |
613 |
P
|
VGN013 |
Vagina Botryoid Rhabdomyosarcoma |
7 |
614 |
|
ANS008 |
Anus Rhabdomyosarcoma |
6 |
615 |
|
ANS009 |
Anus Leiomyosarcoma |
5 |
616 |
c
|
ACQ067 |
Acquired Motor Neuron Disease |
5 |
617 |
|
MXD015 |
Mixed Type Rhabdomyosarcoma |
5 |
618 |
c
|
ADL032 |
Adult Vagina Botryoid Rhabdomyosarcoma |
5 |
619 |
c
|
RDC018 |
Reducing Body Myopathy 1b |
4 |
620 |
|
TNS002 |
Tenosynovitis of Foot and Ankle |
4 |
621 |
|
STR082 |
Striated Muscle Rhabdoid Tumor |
4 |
622 |
c
|
ATS473 |
Autosomal Recessive Whistling Face Syndrome |
3 |
623 |
|
DST104 |
Distal Muscular Dystrophy Tateyama Type |
3 |
624 |
|
CNN005 |
Connective Tissue Disease |
68 |
625 |
|
PRN038 |
Prune Belly Syndrome |
56 |
626 |
|
CYP001 |
Cyprus Facial Neuromusculoskeletal Syndrome |
13 |
627 |
P
|
DYS154 |
Dystonia |
65 |
628 |
c
|
DYS056 |
Dystonia 12 |
62 |
629 |
c
|
DYS119 |
Dystonia 9 |
50 |
630 |
|
DYS064 |
Dystonia 3, Torsion, X-Linked |
47 |
631 |
c
|
DYS059 |
Dystonia 16 |
43 |
632 |
c
|
DYS151 |
Dystonia 25 |
39 |
633 |
c
|
DYS146 |
Dystonia 24 |
37 |
634 |
c
|
DYS172 |
Dystonia 27 |
35 |
635 |
c
|
DYS145 |
Dystonia 23 |
32 |
636 |
c
|
DYS162 |
Dystonia, Juvenile-Onset |
31 |
637 |
c
|
HRD198 |
Hereditary Dystonia |
30 |
638 |
c
|
DYS138 |
Dystonia 21 |
23 |
639 |
|
MLN064 |
Melanoma of Soft Tissue |
21 |
640 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
15 |
641 |
c
|
RRD039 |
Rare Dystonia |
8 |
642 |
|
OST012 |
Osteoarthritis |
78 |
643 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
78 |
644 |
|
MSC157 |
Muscular Dystrophy, Duchenne Type |
72 |
645 |
c
|
LPD015 |
Lipodystrophy, Familial Partial, Type 2 |
64 |
646 |
P
|
RHB003 |
Rhabdomyosarcoma |
63 |
647 |
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
648 |
|
MSC152 |
Muscular Dystrophy, Becker Type |
63 |
649 |
P
|
DST002 |
Distal Arthrogryposis |
63 |
650 |
|
MTC114 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes |
61 |
651 |
|
ALV005 |
Alveolar Soft Part Sarcoma |
61 |
652 |
P
|
EMR001 |
Emery-Dreifuss Muscular Dystrophy |
60 |
653 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
59 |
654 |
P
|
SPN309 |
Spinocerebellar Ataxia 6 |
59 |
655 |
c
|
SPN301 |
Spinocerebellar Ataxia 2 |
58 |
656 |
|
BRD001 |
Brody Myopathy |
57 |
657 |
P
|
MYS005 |
Myositis |
56 |
658 |
c
|
EMR018 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
54 |
659 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
660 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
53 |
661 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
53 |
662 |
|
CYS005 |
Cysticercosis |
53 |
663 |
|
OCL008 |
Oculopharyngeal Muscular Dystrophy |
53 |
664 |
c
|
SPN291 |
Spinocerebellar Ataxia 7 |
52 |
665 |
P
|
MSC003 |
Muscular Atrophy |
52 |
666 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
51 |
667 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
51 |
668 |
c
|
ART155 |
Arthrogryposis, Distal, Type 2b1 |
50 |
669 |
c
|
SPN311 |
Spinocerebellar Ataxia 13 |
50 |
670 |
|
TBL009 |
Tibial Muscular Dystrophy |
50 |
671 |
c
|
SPN207 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
49 |
672 |
P
|
MTC133 |
Mitochondrial Myopathy |
49 |
673 |
c
|
SPN106 |
Spinocerebellar Ataxia 5 |
49 |
674 |
|
MSC164 |
Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency |
48 |
675 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
48 |
676 |
c
|
PRK071 |
Parkinson Disease 14, Autosomal Recessive |
48 |
677 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
47 |
678 |
c
|
SPN105 |
Spinocerebellar Ataxia 4 |
47 |
679 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
47 |
680 |
c
|
LPD021 |
Lipodystrophy, Familial Partial, Type 3 |
47 |
681 |
c
|
CHR647 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
46 |
682 |
c
|
CHR521 |
Charcot-Marie-Tooth Disease, Type 4b1 |
46 |
683 |
P
|
EMR017 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
46 |
684 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
45 |
685 |
c
|
SPN273 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
45 |
686 |
c
|
SPN097 |
Spinocerebellar Ataxia 23 |
45 |
687 |
c
|
SPN314 |
Spinocerebellar Ataxia 10 |
45 |
688 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
45 |
689 |
|
MSC072 |
Muscle Cancer |
45 |
690 |
c
|
MSC178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
45 |
691 |
c
|
SPN305 |
Spinocerebellar Ataxia 11 |
45 |
692 |
c
|
EMR020 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
45 |
693 |
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
45 |
694 |
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
45 |
695 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
44 |
696 |
P
|
RPP006 |
Rippling Muscle Disease 2 |
44 |
697 |
|
TNS014 |
Tenosynovitis |
44 |
698 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
44 |
699 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
44 |
700 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
43 |
701 |
c
|
SPN261 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
43 |
702 |
|
DYS032 |
Dystrophinopathies |
43 |
703 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
704 |
c
|
LPD030 |
Lipodystrophy, Familial Partial, Type 5 |
43 |
705 |
c
|
SPN295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
42 |
706 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
42 |
707 |
c
|
MTC116 |
Mitochondrial Myopathy, Infantile, Transient |
42 |
708 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
709 |
c
|
EMR015 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
42 |
710 |
c
|
SPN214 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
42 |
711 |
|
BLD129 |
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex |
41 |
712 |
c
|
MYP080 |
Myopathy, Myofibrillar, 4 |
41 |
713 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
41 |
714 |
c
|
SPN304 |
Spinocerebellar Ataxia 8 |
41 |
715 |
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
41 |
716 |
c
|
SPN284 |
Spinocerebellar Ataxia 38 |
41 |
717 |
c
|
SPN288 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
40 |
718 |
c
|
SPN096 |
Spinocerebellar Ataxia 21 |
40 |
719 |
c
|
SPN104 |
Spinocerebellar Ataxia 34 |
40 |
720 |
c
|
SPN290 |
Spinocerebellar Ataxia 15 |
40 |
721 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
40 |
722 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
40 |
723 |
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
40 |
724 |
c
|
MYP081 |
Myopathy, Myofibrillar, 6 |
40 |
725 |
c
|
SPN266 |
Spinocerebellar Ataxia 35 |
39 |
726 |
c
|
EMR014 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
39 |
727 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
39 |
728 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
39 |
729 |
c
|
LPD034 |
Lipodystrophy, Familial Partial, Type 4 |
39 |
730 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
39 |
731 |
c
|
MSC111 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
38 |
732 |
c
|
SPN258 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
37 |
733 |
|
MSC190 |
Muscular Disease |
37 |
734 |
c
|
PRK070 |
Parkinson Disease 21 |
37 |
735 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
36 |
736 |
c
|
SPN283 |
Spinocerebellar Ataxia 37 |
36 |
737 |
c
|
NML025 |
Nemaline Myopathy 8 |
36 |
738 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
36 |
739 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
35 |
740 |
c
|
ATS297 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
35 |
741 |
c
|
PRG103 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 |
35 |
742 |
c
|
SPN381 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
35 |
743 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
35 |
744 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
35 |
745 |
c
|
SPN377 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
35 |
746 |
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
34 |
747 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
34 |
748 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
34 |
749 |
c
|
LPD036 |
Lipodystrophy, Familial Partial, Type 6 |
34 |
750 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
33 |
751 |
c
|
SPN200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
33 |
752 |
c
|
PRK025 |
Parkinson Disease 10 |
33 |
753 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
32 |
754 |
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
32 |
755 |
c
|
SPN094 |
Spinocerebellar Ataxia 18 |
31 |
756 |
|
MSC142 |
Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability |
31 |
757 |
c
|
SPN292 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
31 |
758 |
c
|
ADL027 |
Adult Dermatomyositis |
30 |
759 |
c
|
PRG102 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 |
30 |
760 |
|
SKL003 |
Skeletal Muscle Cancer |
30 |
761 |
|
ATR076 |
Atrophic Muscular Disease |
30 |
762 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
29 |
763 |
c
|
ART128 |
Arthrogryposis, Distal, Type 6 |
29 |
764 |
c
|
CNG557 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
29 |
765 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
29 |
766 |
c
|
SPN098 |
Spinocerebellar Ataxia 25 |
29 |
767 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
28 |
768 |
P
|
NRD034 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant |
28 |
769 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
28 |
770 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
28 |
771 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
28 |
772 |
c
|
SPN313 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
28 |
773 |
c
|
SPN298 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
28 |
774 |
|
PRM208 |
Parameningeal Embryonal Rhabdomyosarcoma |
28 |
775 |
c
|
SPN431 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
27 |
776 |
c
|
SPN427 |
Spinocerebellar Ataxia 48 |
27 |
777 |
|
HYD030 |
Hydroxykynureninuria |
27 |
778 |
c
|
CNG553 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
27 |
779 |
c
|
CNG558 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
26 |
780 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
26 |
781 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
26 |
782 |
c
|
SPN420 |
Spinocerebellar Ataxia 46 |
26 |
783 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
25 |
784 |
c
|
LPD044 |
Lipodystrophy, Familial Partial, Type 7 |
25 |
785 |
|
SKL002 |
Skeletal Muscle Neoplasm |
25 |
786 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
25 |
787 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
25 |
788 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
25 |
789 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
24 |
790 |
c
|
CNG554 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
24 |
791 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
24 |
792 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
24 |
793 |
c
|
CNG551 |
Congenital Muscular Dystrophy-Dystroglycanopathy A7 |
24 |
794 |
c
|
SPN372 |
Spinocerebellar Ataxia 43 |
23 |
795 |
c
|
SPN323 |
Spinocerebellar Ataxia 41 |
23 |
796 |
|
MYP121 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
23 |
797 |
c
|
SPN384 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
23 |
798 |
c
|
NRD041 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive |
22 |
799 |
|
GLL016 |
Gallbladder Leiomyosarcoma |
22 |
800 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
22 |
801 |
|
MSC029 |
Muscular Dystrophy, Congenital, Merosin-Positive |
21 |
802 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
21 |
803 |
c
|
CNG559 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
21 |
804 |
c
|
CNG550 |
Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
20 |
805 |
c
|
PRK022 |
Parkinson Disease 12 |
20 |
806 |
|
BNL001 |
Bone Leiomyosarcoma |
19 |
807 |
c
|
CNG547 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
19 |
808 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
19 |
809 |
c
|
CNG556 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
17 |
810 |
c
|
PRK058 |
Parkinson Disease 16 |
17 |
811 |
c
|
FML227 |
Familial Partial Lipodystrophy Due to Akt2 Mutations |
17 |
812 |
|
MSC131 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
17 |
813 |
c
|
SPN111 |
Spinocerebellar Ataxia Autosomal Recessive 5 |
16 |
814 |
c
|
SPN440 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
16 |
815 |
c
|
VRL025 |
Viral Myositis |
15 |
816 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
15 |
817 |
c
|
ART054 |
Arthrogryposis, Distal, Type 2e |
14 |
818 |
c
|
BCT018 |
Bacterial Myositis |
14 |
819 |
c
|
CNG552 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
11 |
820 |
|
GLL014 |
Gallbladder Rhabdomyosarcoma |
10 |
821 |
c
|
VPS003 |
Vps35-Related Parkinson Disease |
10 |
822 |
c
|
CNG555 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 |
9 |
823 |
|
EXT021 |
Extrahepatic Bile Duct Leiomyosarcoma |
9 |
824 |
c
|
CNG548 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 |
9 |
825 |
c
|
CNG549 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 |
9 |
826 |
|
CHL030 |
Childhood Botryoid Rhabdomyosarcoma |
8 |
827 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
6 |
828 |
|
CRP001 |
Carpal Tunnel Syndrome |
67 |
829 |
c
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
61 |
830 |
c
|
CRB193 |
Cerebral Amyloid Angiopathy, App-Related |
55 |
831 |
c
|
CRB176 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
44 |
832 |
c
|
CRB174 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 |
39 |
833 |
P
|
HRD084 |
Hereditary Cerebral Amyloid Angiopathy |
32 |
834 |
P
|
MLG056 |
Malignant Hyperthermia |
67 |
835 |
P
|
CTS001 |
Cutis Laxa |
65 |
836 |
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
63 |
837 |
|
ARR042 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
62 |
838 |
c
|
MSC170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
60 |
839 |
|
INC002 |
Inclusion Body Myositis |
58 |
840 |
|
CRT033 |
Corticobasal Degeneration |
57 |
841 |
P
|
INF049 |
Infantile Myofibromatosis |
56 |
842 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
55 |
843 |
P
|
PRG130 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 |
55 |
844 |
c
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
54 |
845 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
53 |
846 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
51 |
847 |
c
|
MSC104 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
49 |
848 |
|
3MT001 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
49 |
849 |
c
|
MYP125 |
Myopathy, Distal, 1 |
49 |
850 |
P
|
NML001 |
Nemaline Myopathy |
49 |
851 |
c
|
MSC035 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
48 |
852 |
|
LYM009 |
Lymphocytic Choriomeningitis |
47 |
853 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
46 |
854 |
c
|
MYP079 |
Myopathy, Myofibrillar, 5 |
46 |
855 |
|
TXC011 |
Toxocariasis |
46 |
856 |
c
|
CHR095 |
Chronic Progressive External Ophthalmoplegia |
46 |
857 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
45 |
858 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
44 |
859 |
c
|
MLG147 |
Malignant Hyperthermia 1 |
43 |
860 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
43 |
861 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
43 |
862 |
c
|
MYP021 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 |
43 |
863 |
c
|
MYF007 |
Myofibromatosis, Infantile, 1 |
43 |
864 |
|
MYP094 |
Myopathy, Spheroid Body |
42 |
865 |
c
|
MYS014 |
Miyoshi Muscular Dystrophy 3 |
41 |
866 |
|
MYP093 |
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset |
41 |
867 |
|
HYL005 |
Hyaline Body Myopathy |
40 |
868 |
c
|
ATS025 |
Autosomal Dominant Progressive External Ophthalmoplegia |
40 |
869 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
38 |
870 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
38 |
871 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
38 |
872 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
37 |
873 |
c
|
ATS331 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
37 |
874 |
c
|
MYP095 |
Myopathy, Distal, 4 |
35 |
875 |
|
MTC037 |
Mitochondrial Phosphate Carrier Deficiency |
34 |
876 |
c
|
EMR019 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
33 |
877 |
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
32 |
878 |
c
|
SPN263 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 |
32 |
879 |
P
|
SPN127 |
Spondyloepimetaphyseal Dysplasia Joint Laxity |
31 |
880 |
c
|
MYP119 |
Myopathy, Myofibrillar, 7 |
30 |
881 |
c
|
SNG011 |
Singleton-Merten Syndrome 1 |
30 |
882 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
30 |
883 |
P
|
SNG014 |
Singleton-Merten Syndrome |
30 |
884 |
c
|
MLG151 |
Malignant Hyperthermia 5 |
28 |
885 |
c
|
MYP112 |
Myopathy, Distal, 3 |
28 |
886 |
c
|
ACQ027 |
Acquired Cutis Laxa |
25 |
887 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
25 |
888 |
c
|
MLG148 |
Malignant Hyperthermia 2 |
24 |
889 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
24 |
890 |
c
|
ATS451 |
Autosomal Recessive Cutis Laxa Type 2 |
24 |
891 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
23 |
892 |
c
|
MYF010 |
Myofibromatosis, Infantile, 2 |
22 |
893 |
c
|
DPH016 |
Diaphragmatic Hernia 3 |
22 |
894 |
c
|
MLG149 |
Malignant Hyperthermia 3 |
22 |
895 |
|
BLD037 |
Bile Duct Rhabdomyosarcoma |
22 |
896 |
c
|
SPN434 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 |
22 |
897 |
c
|
MLG150 |
Malignant Hyperthermia 4 |
21 |
898 |
c
|
SNG012 |
Singleton-Merten Syndrome 2 |
21 |
899 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
20 |
900 |
c
|
MLG152 |
Malignant Hyperthermia 6 |
19 |
901 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
19 |
902 |
c
|
DPH025 |
Diaphragmatic Hernia 2 |
18 |
903 |
P
|
HRN027 |
Hernia, Anterior Diaphragmatic |
9 |
904 |
P
|
TTL001 |
Total Internal Ophthalmoplegia |
7 |
905 |
c
|
RRD027 |
Rare Disease with Malignant Hyperthermia |
4 |
906 |
c
|
MYT021 |
Myotonic Dystrophy 1 |
69 |
907 |
|
ODN023 |
Odontochondrodysplasia |
68 |
908 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
63 |
909 |
P
|
BTH005 |
Bethlem Myopathy 1 |
61 |
910 |
|
CHR070 |
Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
57 |
911 |
c
|
MYT020 |
Myotonic Dystrophy 2 |
57 |
912 |
c
|
CHR627 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
55 |
913 |
c
|
MYP132 |
Myopathy, Congenital |
55 |
914 |
|
MSC162 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
54 |
915 |
|
CNT099 |
Contractural Arachnodactyly, Congenital |
53 |
916 |
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
49 |
917 |
c
|
MSC042 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
48 |
918 |
|
MYC072 |
Myoclonic Epilepsy Associated with Ragged-Red Fibers |
47 |
919 |
c
|
MSC103 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
44 |
920 |
c
|
MYP082 |
Myopathy, Myofibrillar, 2 |
41 |
921 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
40 |
922 |
|
MYP086 |
Myopathy with Extrapyramidal Signs |
37 |
923 |
|
SCP005 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
36 |
924 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
35 |
925 |
c
|
BTH006 |
Bethlem Myopathy 2 |
34 |
926 |
|
ENT010 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
28 |
927 |
c
|
MYP129 |
Myopathy Due to Malate-Aspartate Shuttle Defect |
10 |
928 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma |
7 |
929 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
6 |
930 |
c
|
BNG038 |
Benign Autosomal Dominant Myopathy |
6 |
931 |
P
|
TMP003 |
Temporal Arteritis |
68 |
932 |
P
|
MSC005 |
Muscular Dystrophy |
66 |
933 |
c
|
MSC036 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
64 |
934 |
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
935 |
P
|
ULL002 |
Ullrich Congenital Muscular Dystrophy 1 |
57 |
936 |
c
|
RGD003 |
Rigid Spine Muscular Dystrophy 1 |
56 |
937 |
c
|
MYP078 |
Myopathy, Myofibrillar, 3 |
50 |
938 |
|
VRT007 |
Vertical Talus, Congenital |
48 |
939 |
c
|
MSC108 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
45 |
940 |
|
CMB040 |
Combined D-2- and L-2-Hydroxyglutaric Aciduria |
40 |
941 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
35 |
942 |
c
|
CNG546 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type a |
31 |
943 |
c
|
JVN019 |
Juvenile Temporal Arteritis |
27 |
944 |
c
|
MYS033 |
Miyoshi Muscular Dystrophy 1 |
56 |
945 |
c
|
MSC050 |
Muscular Dystrophy, Congenital, 1b |
38 |
946 |
|
WLK001 |
Walker-Warburg Syndrome |
63 |
947 |
P
|
DRM010 |
Dermatomyositis |
61 |
948 |
|
CHL028 |
Childhood Type Dermatomyositis |
58 |
949 |
P
|
CNT056 |
Cantu Syndrome |
48 |
950 |
c
|
PRG131 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 |
46 |
951 |
c
|
CNT094 |
Cantú Syndrome and Related Disorders |
19 |