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