| # |
Family |
MCID |
Name |
MIFTS |
| 1 |
c
|
SPN395 |
Spinal Muscular Atrophy, Type Ii |
55 |
| 2 |
c
|
SPN385 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
31 |
| 3 |
P
|
SPN408 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
51 |
| 4 |
P
|
SPN046 |
Spinal Muscular Atrophy |
63 |
| 5 |
c
|
SPN394 |
Spinal Muscular Atrophy, Type Iii |
52 |
| 6 |
c
|
SPN398 |
Spinal Muscular Atrophy, Type Iv |
44 |
| 7 |
c
|
SPN393 |
Spinal Muscular Atrophy, Type I |
51 |
| 8 |
c
|
SPN326 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
38 |
| 9 |
c
|
NRN036 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
34 |
| 10 |
|
SPN188 |
Spinal Muscular Atrophy, Distal, X-Linked 3 |
42 |
| 11 |
|
MYP152 |
Myopathy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures |
32 |
| 12 |
P
|
SPN423 |
Spinal Muscular Atrophy with Lower Extremity Predominance |
26 |
| 13 |
|
PRM321 |
Primary Bone Dysplasia with Progressive Ossification of Skin, Skeletal Muscle, Fascia, Tendons and Ligaments |
7 |
| 14 |
|
GLY061 |
Glycogen Storage Disease 0, Muscle |
32 |
| 15 |
|
EPD050 |
Epidermolysis Bullosa Simplex with Muscular Dystrophy |
56 |
| 16 |
|
TKL001 |
Tukel Syndrome |
52 |
| 17 |
c
|
GLY098 |
Glycogen Storage Disease, Type Ixd |
45 |
| 18 |
|
SPN204 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
29 |
| 19 |
c
|
GLY004 |
Glycogen Storage Disease V |
62 |
| 20 |
c
|
SPN191 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
46 |
| 21 |
c
|
GLY059 |
Glycogen Storage Disease Xiii |
25 |
| 22 |
|
SCP002 |
Scapuloperoneal Spinal Muscular Atrophy |
55 |
| 23 |
|
OSS014 |
Ossification of the Posterior Longitudinal Ligament of Spine |
48 |
| 24 |
|
MSC077 |
Muscle Eye Brain Disease |
52 |
| 25 |
P
|
MSC134 |
Musculocontractural Ehlers-Danlos Syndrome |
39 |
| 26 |
|
SPN426 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2a, Childhood Onset, Autosomal Dominant |
33 |
| 27 |
|
AMY098 |
Amyotrophy, Monomelic |
33 |
| 28 |
|
MSC012 |
Muscular Dystrophy, Duchenne and Becker Type |
33 |
| 29 |
c
|
HRD010 |
Hereditary Spastic Paraplegia |
66 |
| 30 |
c
|
SPS215 |
Spastic Paraplegia 3, Autosomal Dominant |
62 |
| 31 |
c
|
SPS128 |
Spastic Paraplegia 7, Autosomal Recessive |
58 |
| 32 |
c
|
SPS222 |
Spastic Paraplegia 20, Autosomal Recessive |
56 |
| 33 |
c
|
SPS151 |
Spastic Paraplegia 11, Autosomal Recessive |
49 |
| 34 |
c
|
SPS125 |
Spastic Paraplegia 15, Autosomal Recessive |
49 |
| 35 |
c
|
SPS127 |
Spastic Paraplegia 6, Autosomal Dominant |
48 |
| 36 |
c
|
SPS149 |
Spastic Paraplegia 8, Autosomal Dominant |
48 |
| 37 |
c
|
SPS158 |
Spastic Paraplegia 9a, Autosomal Dominant |
44 |
| 38 |
c
|
SPS071 |
Spastic Paraplegia 48, Autosomal Recessive |
44 |
| 39 |
c
|
SPS126 |
Spastic Paraplegia 49, Autosomal Recessive |
44 |
| 40 |
c
|
SPS129 |
Spastic Paraplegia 39, Autosomal Recessive |
44 |
| 41 |
c
|
SPS095 |
Spastic Paraplegia 47, Autosomal Recessive |
43 |
| 42 |
c
|
SPS109 |
Spastic Paraplegia 46, Autosomal Recessive |
42 |
| 43 |
c
|
SPS106 |
Spastic Paraplegia 54, Autosomal Recessive |
42 |
| 44 |
c
|
SPS107 |
Spastic Paraplegia 18, Autosomal Recessive |
41 |
| 45 |
c
|
SPS131 |
Spastic Paraplegia 12, Autosomal Dominant |
41 |
| 46 |
c
|
SPS103 |
Spastic Paraplegia 50, Autosomal Recessive |
41 |
| 47 |
c
|
SPS097 |
Spastic Paraplegia 13, Autosomal Dominant |
41 |
| 48 |
c
|
SPS124 |
Spastic Paraplegia 28, Autosomal Recessive |
41 |
| 49 |
c
|
SPS099 |
Spastic Paraplegia 42, Autosomal Dominant |
40 |
| 50 |
c
|
SPS157 |
Spastic Paraplegia 64, Autosomal Recessive |
40 |
| 51 |
c
|
SPS159 |
Spastic Paraplegia 9b, Autosomal Recessive |
40 |
| 52 |
c
|
SPS213 |
Spastic Paraplegia 75, Autosomal Recessive |
40 |
| 53 |
c
|
SPS119 |
Spastic Paraplegia 55, Autosomal Recessive |
39 |
| 54 |
c
|
SPS122 |
Spastic Paraplegia 52, Autosomal Recessive |
39 |
| 55 |
c
|
SPS137 |
Spastic Paraplegia 57, Autosomal Recessive |
39 |
| 56 |
c
|
SPS130 |
Spastic Paraplegia 43, Autosomal Recessive |
39 |
| 57 |
c
|
SPS101 |
Spastic Paraplegia 56, Autosomal Recessive |
39 |
| 58 |
c
|
SPS096 |
Spastic Paraplegia 44, Autosomal Recessive |
38 |
| 59 |
c
|
SPS160 |
Spastic Paraplegia 73, Autosomal Dominant |
38 |
| 60 |
c
|
SPS104 |
Spastic Paraplegia 53, Autosomal Recessive |
38 |
| 61 |
c
|
SPS113 |
Spastic Paraplegia 33, Autosomal Dominant |
37 |
| 62 |
c
|
SPS100 |
Spastic Paraplegia 38, Autosomal Dominant |
37 |
| 63 |
c
|
SPS210 |
Spastic Paraplegia 76, Autosomal Recessive |
37 |
| 64 |
c
|
SPS141 |
Spastic Paraplegia 61, Autosomal Recessive |
37 |
| 65 |
c
|
SPS237 |
Spastic Paraplegia 30, Autosomal Dominant |
37 |
| 66 |
c
|
SPS114 |
Spastic Paraplegia 45, Autosomal Recessive |
36 |
| 67 |
c
|
SPS228 |
Spastic Paraplegia 63, Autosomal Recessive |
35 |
| 68 |
c
|
SPS227 |
Spastic Paraplegia 62, Autosomal Recessive |
35 |
| 69 |
c
|
SPS092 |
Spastic Paraplegia 11 |
33 |
| 70 |
c
|
SPS123 |
Spastic Paraplegia 32, Autosomal Recessive |
33 |
| 71 |
P
|
SPS012 |
Spastic Paraplegia 3a |
32 |
| 72 |
c
|
HRD220 |
Hereditary Spastic Paraplegia 30 |
32 |
| 73 |
c
|
SPS105 |
Spastic Paraplegia 37, Autosomal Dominant |
31 |
| 74 |
c
|
SPS025 |
Spastic Paraplegia 15 |
30 |
| 75 |
c
|
SPS036 |
Spastic Paraplegia 3 |
30 |
| 76 |
c
|
SPS110 |
Spastic Paraplegia 19, Autosomal Dominant |
29 |
| 77 |
c
|
SPS115 |
Spastic Paraplegia 41, Autosomal Dominant |
29 |
| 78 |
c
|
SPS138 |
Spastic Paraplegia 72, Autosomal Recessive |
29 |
| 79 |
c
|
SPS068 |
Spastic Paraplegia 14, Autosomal Recessive |
29 |
| 80 |
c
|
HRD186 |
Hereditary Spastic Paraplegia 51 |
29 |
| 81 |
c
|
SPS152 |
Spastic Paraplegia 51, Autosomal Recessive |
28 |
| 82 |
c
|
SPS102 |
Spastic Paraplegia 25, Autosomal Recessive |
28 |
| 83 |
c
|
SPS094 |
Spastic Paraplegia 29, Autosomal Dominant |
28 |
| 84 |
c
|
HRD188 |
Hereditary Spastic Paraplegia 72 |
28 |
| 85 |
c
|
SPS111 |
Spastic Paraplegia 27, Autosomal Recessive |
28 |
| 86 |
c
|
SPS021 |
Spastic Paraplegia 10 |
27 |
| 87 |
c
|
SPS120 |
Spastic Paraplegia 24, Autosomal Recessive |
27 |
| 88 |
c
|
SPS231 |
Spastic Paraplegia 23, Autosomal Recessive |
27 |
| 89 |
c
|
SPS205 |
Spastic Paraplegia 79, Autosomal Recessive |
27 |
| 90 |
c
|
SPS206 |
Spastic Paraplegia 77, Autosomal Recessive |
27 |
| 91 |
c
|
SPS118 |
Spastic Paraplegia 36, Autosomal Dominant |
26 |
| 92 |
c
|
SPS041 |
Spastic Paraplegia 6 |
26 |
| 93 |
c
|
SPS156 |
Spastic Paraplegia 74, Autosomal Recessive |
25 |
| 94 |
c
|
SPS232 |
Spastic Paraplegia 80, Autosomal Dominant |
25 |
| 95 |
c
|
SPS238 |
Spastic Paraplegia 81, Autosomal Recessive |
24 |
| 96 |
c
|
SPS027 |
Spastic Paraplegia 17 |
23 |
| 97 |
c
|
HRD210 |
Hereditary Spastic Paraplegia 23 |
22 |
| 98 |
c
|
SPS239 |
Spastic Paraplegia 82, Autosomal Recessive |
21 |
| 99 |
c
|
SPS038 |
Spastic Paraplegia 39 |
21 |
| 100 |
c
|
SPS042 |
Spastic Paraplegia 9 |
21 |
| 101 |
c
|
SPS023 |
Spastic Paraplegia 13 |
21 |
| 102 |
c
|
SPS022 |
Spastic Paraplegia 12 |
18 |
| 103 |
c
|
SPS240 |
Spastic Paraplegia 83, Autosomal Recessive |
17 |
| 104 |
c
|
SPS028 |
Spastic Paraplegia 18 |
16 |
| 105 |
c
|
SPS034 |
Spastic Paraplegia 26 |
16 |
| 106 |
c
|
ATS412 |
Autosomal Dominant Spastic Paraplegia Type 9b |
15 |
| 107 |
c
|
SPS032 |
Spastic Paraplegia 24 |
14 |
| 108 |
c
|
ATS185 |
Autosomal Recessive Spastic Paraplegia Type 59 |
14 |
| 109 |
c
|
ATS190 |
Autosomal Recessive Spastic Paraplegia Type 66 |
14 |
| 110 |
c
|
ATS187 |
Autosomal Recessive Spastic Paraplegia Type 69 |
14 |
| 111 |
c
|
ATS188 |
Autosomal Recessive Spastic Paraplegia Type 70 |
13 |
| 112 |
c
|
ATS191 |
Autosomal Recessive Spastic Paraplegia Type 67 |
13 |
| 113 |
c
|
ATS189 |
Autosomal Recessive Spastic Paraplegia Type 71 |
13 |
| 114 |
c
|
SPS029 |
Spastic Paraplegia 19 |
13 |
| 115 |
c
|
SPS035 |
Spastic Paraplegia 29 |
13 |
| 116 |
c
|
ATS184 |
Autosomal Recessive Spastic Paraplegia Type 60 |
12 |
| 117 |
c
|
ATS418 |
Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant 2 |
12 |
| 118 |
c
|
SPS024 |
Spastic Paraplegia 14 |
12 |
| 119 |
c
|
SPS165 |
Spastic Paraplegia 47 |
12 |
| 120 |
c
|
SPS161 |
Spastic Paraplegia 32 |
11 |
| 121 |
c
|
SPS026 |
Spastic Paraplegia 16 |
11 |
| 122 |
c
|
SPS033 |
Spastic Paraplegia 25 |
11 |
| 123 |
c
|
SPS230 |
Spastic Paraplegia Type 49 |
10 |
| 124 |
c
|
SPS040 |
Spastic Paraplegia 5b |
7 |
| 125 |
|
MSC132 |
Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism |
22 |
| 126 |
|
CST006 |
Costocoracoid Ligament, Congenitally Short |
13 |
| 127 |
|
CNT105 |
Central Core Disease of Muscle |
59 |
| 128 |
c
|
EHL080 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
52 |
| 129 |
|
MYP071 |
Myopathy Due to Myoadenylate Deaminase Deficiency |
43 |
| 130 |
c
|
EHL086 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
36 |
| 131 |
c
|
SPN255 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 |
26 |
| 132 |
c
|
FBR046 |
Fibrosis of Extraocular Muscles, Congenital, 1 |
59 |
| 133 |
|
TBL022 |
Tibial Muscular Dystrophy, Tardive |
36 |
| 134 |
|
FBR094 |
Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement |
28 |
| 135 |
c
|
ATS424 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
19 |
| 136 |
|
FBR011 |
Fibrodysplasia Ossificans Progressiva |
67 |
| 137 |
c
|
FBR050 |
Fibrosis of Extraocular Muscles, Congenital, 2 |
28 |
| 138 |
|
BRW006 |
Brown Syndrome |
26 |
| 139 |
|
GLT037 |
Gluteal Muscles, Absence of |
15 |
| 140 |
|
MSC007 |
Muscle Hypertrophy |
64 |
| 141 |
P
|
LMN012 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
35 |
| 142 |
P
|
CLP009 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
30 |
| 143 |
c
|
LSS025 |
Lissencephaly 5 |
27 |
| 144 |
|
ACN028 |
Acanthosis Nigricans with Muscle Cramps and Acral Enlargement |
16 |
| 145 |
c
|
CNG012 |
Congenital Generalized Lipodystrophy |
65 |
| 146 |
c
|
LPD032 |
Lipodystrophy, Congenital Generalized, Type 1 |
51 |
| 147 |
c
|
LPD033 |
Lipodystrophy, Congenital Generalized, Type 2 |
51 |
| 148 |
c
|
DYS191 |
Dystonia 1, Torsion, Autosomal Dominant |
47 |
| 149 |
c
|
LPD035 |
Lipodystrophy, Congenital Generalized, Type 4 |
45 |
| 150 |
P
|
ACQ022 |
Acquired Generalized Lipodystrophy |
45 |
| 151 |
c
|
LPD020 |
Lipodystrophy, Congenital Generalized, Type 3 |
37 |
| 152 |
c
|
TRS025 |
Torsion Dystonia 2 |
27 |
| 153 |
c
|
DYS185 |
Dystonia 13, Torsion, Autosomal Dominant |
24 |
| 154 |
c
|
DYS068 |
Dystonia 7, Torsion |
23 |
| 155 |
|
MSC141 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
22 |
| 156 |
|
MYP154 |
Myopathy, Congenital, with Fast-Twitch Fiber Atrophy |
21 |
| 157 |
c
|
TRS027 |
Torsion Dystonia 4 |
19 |
| 158 |
c
|
DYS184 |
Dystonia 17, Torsion, Autosomal Recessive |
19 |
| 159 |
P
|
TRS005 |
Torsion Dystonia with Onset in Infancy |
12 |
| 160 |
c
|
TRS028 |
Torsion Dystonia 17 |
5 |
| 161 |
c
|
GLY008 |
Glycogen Storage Disease Ii |
72 |
| 162 |
c
|
GLY060 |
Glycogen Storage Disease Ia |
63 |
| 163 |
c
|
GLY003 |
Glycogen Storage Disease Iii |
60 |
| 164 |
c
|
GLY005 |
Glycogen Storage Disease Vi |
58 |
| 165 |
c
|
GLY007 |
Glycogen Storage Disease Iv |
58 |
| 166 |
c
|
GLY011 |
Glycogen Storage Disease Vii |
54 |
| 167 |
|
ADP007 |
Adie Pupil |
40 |
| 168 |
c
|
GLY016 |
Glycogen Storage Disease Ib |
40 |
| 169 |
c
|
GLY044 |
Glycogen Storage Disease Ixc |
37 |
| 170 |
|
WLN001 |
Welander Distal Myopathy |
35 |
| 171 |
c
|
GLY006 |
Glycogen Storage Disease Viii |
33 |
| 172 |
c
|
GLY057 |
Glycogen Storage Disease X |
33 |
| 173 |
c
|
GLY043 |
Glycogen Storage Disease Xii |
30 |
| 174 |
c
|
GLY017 |
Glycogen Storage Disease Ic |
30 |
| 175 |
|
SPN267 |
Spinal Muscular Atrophy, Jokela Type |
30 |
| 176 |
|
CHL155 |
Childhood Spinal Muscular Atrophy |
30 |
| 177 |
c
|
GLY023 |
Glycogen Storage Disease Type 0 |
27 |
| 178 |
|
CRB160 |
Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes |
26 |
| 179 |
c
|
GLY093 |
Glycogen Storage Disease Ixa |
26 |
| 180 |
c
|
GLY001 |
Glycogen Storage Disease Ix |
25 |
| 181 |
|
SPN428 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2b, Prenatal Onset, Autosomal Dominant |
23 |
| 182 |
|
TND002 |
Tendons, Extensor, of Fingers, Anomalous Insertion of |
16 |
| 183 |
|
TNS001 |
Tenosynovial Giant Cell Tumor |
40 |
| 184 |
|
SCP009 |
Scapuloperoneal Myopathy, X-Linked Dominant |
36 |
| 185 |
|
VCL008 |
Vacuolar Neuromyopathy |
20 |
| 186 |
|
MSC133 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus |
16 |
| 187 |
|
APL029 |
Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy |
15 |
| 188 |
|
SPN399 |
Spinal Muscular Atrophy, Ryukyuan Type |
13 |
| 189 |
|
DWR023 |
Dwarfism, Familial, with Muscle Spasms |
12 |
| 190 |
|
RPP004 |
Rippling Muscle Disease with Myasthenia Gravis |
11 |
| 191 |
|
SPN278 |
Spinal Muscular Atrophy with Respiratory Distress Type 2 |
7 |
| 192 |
c
|
CRS016 |
Crisponi/cold-Induced Sweating Syndrome 1 |
53 |
| 193 |
|
PST020 |
Postpoliomyelitis Syndrome |
43 |
| 194 |
c
|
DYS063 |
Dystonia 2, Torsion, Autosomal Recessive |
28 |
| 195 |
c
|
SPN444 |
Spinal Muscular Atrophy Type 0 |
22 |
| 196 |
P
|
CLD004 |
Cold-Induced Sweating Syndrome Including Crisponi Syndrome |
18 |
| 197 |
|
MYT030 |
Myotonia, Potassium-Aggravated |
46 |
| 198 |
|
MXD017 |
Mixed Endometrial Stromal and Smooth Muscle Tumor |
19 |
| 199 |
|
VNT025 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 5, with or Without Muscle Weakness |
19 |
| 200 |
c
|
FBR078 |
Fibrosis of Extraocular Muscles, Congenital, 5 |
17 |
| 201 |
|
SKL034 |
Skeletal Muscle Glycogen Content and Metabolism Quantitative Trait Locus |
13 |
| 202 |
|
TND001 |
Tendon Sheath Lipoma |
11 |
| 203 |
|
UTR041 |
Uterine Ligament Cancer |
8 |
| 204 |
c
|
SPN441 |
Spinal Muscular Atrophy with Lower Extremity Predominance 2a |
4 |
| 205 |
|
PRM057 |
Paramyotonia Congenita of Von Eulenburg |
59 |
| 206 |
P
|
DYS193 |
Dystonia 11, Myoclonic |
55 |
| 207 |
c
|
PNT045 |
Pontocerebellar Hypoplasia, Type 1a |
41 |
| 208 |
|
URG005 |
Uruguay Faciocardiomusculoskeletal Syndrome |
36 |
| 209 |
|
BRW002 |
Brown's Tendon Sheath Syndrome |
27 |
| 210 |
|
ATS237 |
Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
24 |
| 211 |
|
CNG428 |
Congenital Muscular Dystrophy Without Intellectual Disability |
23 |
| 212 |
c
|
DYS175 |
Dystonia 26, Myoclonic |
22 |
| 213 |
c
|
DYS058 |
Dystonia 15, Myoclonic |
19 |
| 214 |
|
MST022 |
Masticatory Muscles, Hypertrophy of |
19 |
| 215 |
|
MSC158 |
Muscular Dystrophy, Scapulohumeral |
18 |
| 216 |
c
|
LMN013 |
Laminin Subunit Alpha 2-Related Muscular Dystrophy |
12 |
| 217 |
|
MSC156 |
Muscular Dystrophy, Progressive Pectorodorsal |
9 |
| 218 |
c
|
CLP008 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy D4 |
5 |
| 219 |
c
|
SPN443 |
Spinal Muscular Atrophy with Lower Extremity Predominance 1 |
5 |
| 220 |
|
LMN014 |
Laminin Subunit Alpha 2-Related Limb-Girdle Muscular Dystrophy R23 |
4 |
| 221 |
|
ADL062 |
Adult Progressive Spinal Muscular Atrophy Aran Duchenne Type |
3 |
| 222 |
P
|
CTS001 |
Cutis Laxa |
65 |
| 223 |
P
|
INF049 |
Infantile Myofibromatosis |
55 |
| 224 |
c
|
CTS045 |
Cutis Laxa, Autosomal Dominant 1 |
53 |
| 225 |
c
|
CTS029 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
53 |
| 226 |
|
BRS064 |
Bursitis |
51 |
| 227 |
c
|
CTS033 |
Cutis Laxa, Autosomal Recessive, Type Ic |
50 |
| 228 |
c
|
ATS392 |
Autosomal Recessive Cutis Laxa Type Iii |
48 |
| 229 |
c
|
CTS038 |
Cutis Laxa, Autosomal Recessive, Type Iia |
47 |
| 230 |
c
|
ATS393 |
Autosomal Recessive Cutis Laxa Type I |
46 |
| 231 |
c
|
CTS041 |
Cutis Laxa, Autosomal Dominant 3 |
45 |
| 232 |
c
|
CTS030 |
Cutis Laxa, Autosomal Recessive, Type Ia |
44 |
| 233 |
c
|
CTS037 |
Cutis Laxa, Autosomal Recessive, Type Ib |
44 |
| 234 |
c
|
CTS023 |
Cutis Laxa, Autosomal Recessive, Type Iib |
43 |
| 235 |
P
|
PRX014 |
Proximal Spinal Muscular Atrophy |
42 |
| 236 |
c
|
CTS031 |
Cutis Laxa, Autosomal Dominant 2 |
40 |
| 237 |
c
|
CTS043 |
Cutis Laxa, Autosomal Recessive, Type Iid |
38 |
| 238 |
c
|
CTS032 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
37 |
| 239 |
c
|
MYF007 |
Myofibromatosis, Infantile, 1 |
37 |
| 240 |
c
|
DYS163 |
Dystonia 4, Torsion, Autosomal Dominant |
35 |
| 241 |
c
|
ATP003 |
Atp6v0a2-Related Cutis Laxa |
32 |
| 242 |
|
DQR001 |
De Quervain Disease |
25 |
| 243 |
c
|
CTS044 |
Cutis Laxa, Autosomal Recessive, Type Iic |
24 |
| 244 |
c
|
ACQ027 |
Acquired Cutis Laxa |
24 |
| 245 |
c
|
LTB003 |
Ltbp4-Related Cutis Laxa |
23 |
| 246 |
c
|
FBL003 |
Fbln5-Related Cutis Laxa |
23 |
| 247 |
c
|
ATS451 |
Autosomal Recessive Cutis Laxa Type 2 |
23 |
| 248 |
c
|
EFM001 |
Efemp2-Related Cutis Laxa |
21 |
| 249 |
|
SPN447 |
Spinal Muscular Atrophy, Infantile, James Type |
20 |
| 250 |
|
CML001 |
Cumulative Trauma Disorders |
18 |
| 251 |
|
EMR021 |
Emery-Dreifuss Syndrome |
11 |
| 252 |
|
CLL037 |
Collagen Vi Related Muscular Dystrophy |
8 |
| 253 |
|
SPN387 |
Spinal Muscular Atrophy, Segmental |
7 |
| 254 |
|
HMN015 |
Hamanishi Ueba Tsuji Syndrome |
7 |
| 255 |
|
MSC031 |
Muscular Phosphorylase Kinase Deficiency |
5 |
| 256 |
P
|
DYS154 |
Dystonia |
64 |
| 257 |
|
PGM001 |
Pigmented Villonodular Synovitis |
55 |
| 258 |
|
ENT004 |
Enthesopathy |
51 |
| 259 |
c
|
EHL078 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
51 |
| 260 |
|
DYS032 |
Dystrophinopathies |
47 |
| 261 |
|
CRY032 |
Carey-Fineman-Ziter Syndrome |
46 |
| 262 |
|
CRV043 |
Cervical Dystonia |
46 |
| 263 |
c
|
MYS046 |
Myasthenic Syndrome, Congenital, 1a, Slow-Channel |
44 |
| 264 |
|
SPS057 |
Spasticity |
42 |
| 265 |
c
|
MYS070 |
Myasthenic Syndrome, Congenital, 19 |
41 |
| 266 |
c
|
PNT010 |
Pontocerebellar Hypoplasia Type 1 |
40 |
| 267 |
P
|
CLD003 |
Cold-Induced Sweating Syndrome |
40 |
| 268 |
P
|
KYP005 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
39 |
| 269 |
|
DYS030 |
Dysferlinopathy |
38 |
| 270 |
P
|
MYS047 |
Myasthenic Syndrome, Congenital, 1b, Fast-Channel |
37 |
| 271 |
P
|
SNG014 |
Singleton-Merten Syndrome |
36 |
| 272 |
P
|
SLW003 |
Slow-Channel Congenital Myasthenic Syndrome |
35 |
| 273 |
c
|
MYS048 |
Myasthenic Syndrome, Congenital, 3a, Slow-Channel |
34 |
| 274 |
|
CYC001 |
Cycloplegia |
34 |
| 275 |
c
|
EHL084 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
34 |
| 276 |
|
MYS054 |
Myasthenic Syndrome, Congenital, 9, Associated with Acetylcholine Receptor Deficiency |
31 |
| 277 |
c
|
MYS059 |
Myasthenic Syndrome, Congenital, 4a, Slow-Channel |
31 |
| 278 |
c
|
MYS065 |
Myasthenic Syndrome, Congenital, 18 |
30 |
| 279 |
c
|
SNG011 |
Singleton-Merten Syndrome 1 |
30 |
| 280 |
|
CYL001 |
Cayler Cardiofacial Syndrome |
28 |
| 281 |
|
ATM005 |
Autoimmune Disease of Musculoskeletal System |
27 |
| 282 |
c
|
MYS060 |
Myasthenic Syndrome, Congenital, 4b, Fast-Channel |
26 |
| 283 |
c
|
MYS049 |
Myasthenic Syndrome, Congenital, 3b, Fast-Channel |
23 |
| 284 |
|
MYS050 |
Myasthenic Syndrome, Congenital, 3c, Associated with Acetylcholine Receptor Deficiency |
21 |
| 285 |
|
DST013 |
Distal Myopathy with Vocal Cord Weakness |
20 |
| 286 |
c
|
ATS425 |
Autosomal Recessive Distal Hereditary Motor Neuronopathy |
20 |
| 287 |
c
|
PLD003 |
Plod1-Related Kyphoscoliotic Ehlers-Danlos Syndrome |
20 |
| 288 |
|
MYS063 |
Myasthenic Syndrome, Congenital, 2c, Associated with Acetylcholine Receptor Deficiency |
19 |
| 289 |
|
MYP161 |
Myopathy, Congenital Proximal, with Minicore Lesions |
17 |
| 290 |
|
RPT005 |
Repetitive Motion Disorders |
16 |
| 291 |
|
CNG248 |
Congenital Smooth Muscle Hamartoma |
14 |
| 292 |
|
KCH001 |
Kocher-Debre-Semelaigne Syndrome |
13 |
| 293 |
c
|
CLD017 |
Cold-Induced Sweating Syndrome 3 |
12 |
| 294 |
|
SPN083 |
Spinal Atrophy Ophthalmoplegia Pyramidal Syndrome |
12 |
| 295 |
|
MST003 |
Masters-Allen Syndrome |
11 |
| 296 |
|
RPT006 |
Repetitive Stress Injuries |
9 |
| 297 |
|
PLV002 |
Pelvic Muscle Wasting |
8 |
| 298 |
|
UTR060 |
Uterine Ligament Papillary Cystadenoma Associated with Von Hippel-Lindau Disease |
5 |
| 299 |
P
|
SPN442 |
Spinal Muscular Atrophy with Lower Extremity Predominante 2b |
4 |
| 300 |
P
|
CRN015 |
Cornelia De Lange Syndrome |
67 |
| 301 |
|
INT146 |
Intervertebral Disc Disease |
63 |
| 302 |
P
|
EPL198 |
Epilepsy, Myoclonic Juvenile |
61 |
| 303 |
c
|
CRN139 |
Cornelia De Lange Syndrome 1 |
61 |
| 304 |
|
CHK001 |
Chikungunya |
60 |
| 305 |
P
|
GLY013 |
Glycogen Storage Disease |
60 |
| 306 |
P
|
MYC008 |
Myocarditis |
59 |
| 307 |
|
END021 |
Endomyocardial Fibrosis |
56 |
| 308 |
|
FDB001 |
Foodborne Botulism |
55 |
| 309 |
c
|
MYS051 |
Myasthenic Syndrome, Congenital, 5 |
53 |
| 310 |
c
|
DYS119 |
Dystonia 9 |
52 |
| 311 |
c
|
DYS059 |
Dystonia 16 |
48 |
| 312 |
P
|
TRT019 |
Torticollis |
47 |
| 313 |
c
|
ACT076 |
Acute Myocarditis |
47 |
| 314 |
c
|
FML363 |
Familial Adult Myoclonic Epilepsy |
45 |
| 315 |
|
CPM001 |
Cap Myopathy |
44 |
| 316 |
c
|
MYC083 |
Myoclonic Epilepsy, Familial Infantile |
41 |
| 317 |
|
RGD002 |
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal |
40 |
| 318 |
c
|
MYS076 |
Myasthenic Syndrome, Congenital, 8 |
40 |
| 319 |
c
|
MYS078 |
Myasthenic Syndrome, Congenital, 14 |
40 |
| 320 |
|
MYT011 |
Myotonia |
39 |
| 321 |
|
ISL151 |
Isolated Elevated Serum Creatine Phosphokinase Levels |
39 |
| 322 |
|
MYS057 |
Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency |
38 |
| 323 |
c
|
CRN209 |
Cornelia De Lange Syndrome 5 |
37 |
| 324 |
|
MNC011 |
Minicore Myopathy with External Ophthalmoplegia |
37 |
| 325 |
c
|
DYS146 |
Dystonia 24 |
37 |
| 326 |
c
|
MTC078 |
Mitochondrial Dna Depletion Syndrome 11 |
37 |
| 327 |
c
|
DYS172 |
Dystonia 27 |
36 |
| 328 |
c
|
EPL103 |
Epilepsy, Familial Adult Myoclonic, 5 |
34 |
| 329 |
c
|
MYC068 |
Myoclonic Epilepsy of Infancy |
34 |
| 330 |
c
|
EPL203 |
Epilepsy, Familial Adult Myoclonic, 2 |
33 |
| 331 |
c
|
DYS145 |
Dystonia 23 |
33 |
| 332 |
c
|
EPL188 |
Epilepsy, Progressive Myoclonic, 10 |
32 |
| 333 |
|
ERL030 |
Early-Onset Generalized Limb-Onset Dystonia |
32 |
| 334 |
c
|
EPL201 |
Epilepsy, Familial Adult Myoclonic, 1 |
32 |
| 335 |
|
DYS198 |
Dystonia, Focal, Task-Specific |
31 |
| 336 |
|
NDL002 |
Nodular Tenosynovitis |
31 |
| 337 |
c
|
SPS013 |
Spastic Paraplegia 8 |
31 |
| 338 |
|
MYP097 |
Myopathy with Lactic Acidosis, Hereditary |
31 |
| 339 |
c
|
CRN134 |
Cornelia De Lange Syndrome 2 |
30 |
| 340 |
c
|
HRD198 |
Hereditary Dystonia |
30 |
| 341 |
c
|
EPL155 |
Epilepsy, Progressive Myoclonic, 8 |
29 |
| 342 |
|
CNG427 |
Congenital Muscular Dystrophy with Intellectual Disability |
29 |
| 343 |
c
|
EPL154 |
Epilepsy, Progressive Myoclonic, 9 |
29 |
| 344 |
c
|
EPL207 |
Epilepsy, Progressive Myoclonic, 1b |
29 |
| 345 |
c
|
EPL134 |
Epilepsy, Progressive Myoclonic 7 |
29 |
| 346 |
|
CNG426 |
Congenital Muscular Dystrophy with Cerebellar Involvement |
28 |
| 347 |
c
|
EPL210 |
Epilepsy, Progressive Myoclonic, 6 |
28 |
| 348 |
|
MYP067 |
Myopathy, Distal, Tateyama Type |
28 |
| 349 |
c
|
MYS077 |
Myasthenic Syndrome, Congenital, 15 |
28 |
| 350 |
c
|
EPL053 |
Epilepsy, Familial Adult Myoclonic, 3 |
28 |
| 351 |
c
|
MYS062 |
Myasthenic Syndrome, Congenital, 2a, Slow-Channel |
27 |
| 352 |
c
|
EPL228 |
Epilepsy, Familial Adult Myoclonic, 7 |
25 |
| 353 |
c
|
EPL107 |
Epilepsy, Familial Adult Myoclonic, 4 |
25 |
| 354 |
c
|
EPL227 |
Epilepsy, Familial Adult Myoclonic, 6 |
25 |
| 355 |
|
MYP114 |
Myopathy, Scapulohumeroperoneal |
24 |
| 356 |
c
|
CNG129 |
Congenital Torticollis |
23 |
| 357 |
c
|
MYC085 |
Myoclonic Epilepsy, Juvenile 3 |
22 |
| 358 |
c
|
DYS138 |
Dystonia 21 |
22 |
| 359 |
c
|
DST092 |
Distal Hereditary Motor Neuropathy Type 7 |
22 |
| 360 |
|
MSC129 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
22 |
| 361 |
|
MYP155 |
Myopathy, Congenital, with Tremor |
22 |
| 362 |
|
MSC193 |
Muscular Lipidosis |
22 |
| 363 |
c
|
MYF010 |
Myofibromatosis, Infantile, 2 |
21 |
| 364 |
c
|
EPL217 |
Epilepsy, Juvenile Myoclonic 10 |
21 |
| 365 |
c
|
KMT002 |
Kmt2b-Related Dystonia |
20 |
| 366 |
c
|
EPL254 |
Epilepsy, Progressive Myoclonic, 11 |
20 |
| 367 |
c
|
MYC086 |
Myoclonic Epilepsy, Juvenile 4 |
19 |
| 368 |
c
|
EPL009 |
Epilepsy Progressive Myoclonic Type 3 |
18 |
| 369 |
c
|
INF055 |
Infectious Myocarditis |
17 |
| 370 |
P
|
FBR081 |
Fibrosis of Extraocular Muscles, Congenital, 3c |
15 |
| 371 |
c
|
EPL186 |
Epilepsy, Juvenile Myoclonic 9 |
15 |
| 372 |
|
HMF003 |
Hemifacial Myohyperplasia |
14 |
| 373 |
|
CHR644 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined |
14 |
| 374 |
|
MSC026 |
Muscular Dystrophy White Matter Spongiosis |
13 |
| 375 |
|
FBR096 |
Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence |
13 |
| 376 |
|
MSC192 |
Muscular Glycogenosis |
12 |
| 377 |
|
OCL023 |
Ocular Muscular Dystrophy |
12 |
| 378 |
c
|
EPL257 |
Epilepsy, Progressive Myoclonic, 12 |
12 |
| 379 |
|
INT305 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
12 |
| 380 |
|
TRC088 |
Trochleitis |
12 |
| 381 |
|
CNG393 |
Congenital Muscular Dystrophy with Hyperlaxity |
12 |
| 382 |
c
|
ATS433 |
Autosomal Dominant Proximal Spinal Muscular Atrophy |
12 |
| 383 |
|
SPN386 |
Spinal Muscular Atrophy, Facioscapulohumeral Type |
11 |
| 384 |
|
LM2002 |
Lama2 Muscular Dystrophy |
11 |
| 385 |
|
MSC130 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
11 |
| 386 |
|
HYP751 |
Hypertrophia Musculorum Vera |
11 |
| 387 |
|
UDD002 |
Udd Distal Myopathy - Tibial Muscular Dystrophy |
10 |
| 388 |
|
AN5002 |
Ano5 Muscle Disease |
9 |
| 389 |
|
EPS012 |
Episodic Muscle Weakness, X-Linked |
9 |
| 390 |
|
MSC153 |
Muscular Dystrophy, Cardiac Type |
9 |
| 391 |
|
MSC144 |
Muscular Atrophy, Malignant Neurogenic |
9 |
| 392 |
|
HRD222 |
Hereditary Continuous Muscle Fiber Activity |
9 |
| 393 |
|
SPN341 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
9 |
| 394 |
|
MSC151 |
Muscular Hypertonia, Lethal |
9 |
| 395 |
|
MSC149 |
Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy |
9 |
| 396 |
c
|
RRD039 |
Rare Dystonia |
9 |
| 397 |
|
MSC147 |
Muscular Hypoplasia, Congenital Universal, of Krabbe |
8 |
| 398 |
|
CLC062 |
Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm |
8 |
| 399 |
|
MSC150 |
Muscular Dystrophy, Congenital, with Rapid Progression |
8 |
| 400 |
|
MSC146 |
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries |
8 |
| 401 |
|
MSC054 |
Muscle Strength Quantitative Trait Locus 1 |
8 |
| 402 |
|
TBL002 |
Tibial Collateral Ligament Bursitis |
8 |
| 403 |
|
MSC194 |
Muscular Tumor |
7 |
| 404 |
|
MSC154 |
Muscular Dystrophy, Hemizygous Lethal Type |
7 |
| 405 |
|
MSC145 |
Muscular Dystrophy, Barnes Type |
7 |
| 406 |
|
PLM161 |
Palmaris Longus Muscle, Absence of |
7 |
| 407 |
|
PRN065 |
Peroneus Tertius Muscle, Absence of |
7 |
| 408 |
|
CHR643 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, with Aplasia Cutis Congenita |
7 |
| 409 |
|
MSC197 |
Muscular Channelopathy |
7 |
| 410 |
|
MSC155 |
Muscular Dystrophy, Mabry Type |
6 |
| 411 |
|
GNT125 |
Genetic Skeletal Muscle Disease |
6 |
| 412 |
|
SYM016 |
Symptomatic Form of Muscular Dystrophy of Duchenne and Becker in Female Carriers |
5 |
| 413 |
|
MSC160 |
Muscular Dystrophy, Congenital, with Cerebellar Atrophy |
4 |
| 414 |
|
LTN025 |
Late-Onset Scapuloperoneal Muscular Dystrophy with Hyaline Bodies |
4 |
| 415 |
|
FBL001 |
Fibular Collateral Ligament Bursitis |
4 |
| 416 |
|
CNG050 |
Congenital Absence of the Sternocleidomastoid Muscle |
4 |
| 417 |
|
CNG493 |
Congenital Generalized Hypercontractile Muscle Stiffness Syndrome |
4 |
| 418 |
|
GNG007 |
Ganglion or Cyst of Synovium/tendon/bursa |
3 |
| 419 |
|
GNR047 |
Generalized Bulbospinal Muscular Atrophy |
3 |
| 420 |
|
BLB006 |
Bulbospinal Muscular Atrophy of Adult |
3 |
| 421 |
|
BLB007 |
Bulbospinal Muscular Atrophy of Childhood |
3 |
| 422 |
|
CHL130 |
Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome |
3 |
| 423 |
|
HYP853 |
Hypercontractile Muscle Stiffness Syndrome |
3 |
| 424 |
|
MSC198 |
Musculoskeletal Disease with Cataract |
3 |
| 425 |
c
|
CNG061 |
Congenital Benign Spinal Muscular Atrophy Dominant |
3 |
| 426 |
P
|
NRL027 |
Neurological Muscular Channelopathy Due to a Genetic Sodium Channel Defect |
3 |
| 427 |
c
|
NRL029 |
Neurological Muscular Channelopathy Due to a Genetic Potassium Channel Defect |
3 |
| 428 |
c
|
NRL030 |
Neurological Muscular Channelopathy Due to a Genetic Calcium Channel Defect |
3 |
| 429 |
|
LMN007 |
Laminopathy with Striated Muscle Involvement |
2 |
| 430 |
|
CNG443 |
Congenital Muscular Dystrophy-Dystroglycanopathy with or Without Intellectual Disability |
1 |
| 431 |
|
MSC025 |
Muscular Dystrophy Limb Girdle Type 2a, Erb Type |
1 |
| 432 |
|
MSC030 |
Muscular Fibrosis Multifocal Obstructed Vessels |
1 |
| 433 |
P
|
MYP004 |
Myopathy |
67 |
| 434 |
|
FBR047 |
Fibromyalgia |
58 |
| 435 |
P
|
CNT004 |
Centronuclear Myopathy |
57 |
| 436 |
|
EBL001 |
Ebola Hemorrhagic Fever |
56 |
| 437 |
c
|
MYP072 |
Myopathy, Myofibrillar, 1 |
55 |
| 438 |
P
|
SCK002 |
Sick Sinus Syndrome |
55 |
| 439 |
P
|
ATR001 |
Atrioventricular Septal Defect |
55 |
| 440 |
|
FRZ001 |
Frozen Shoulder |
55 |
| 441 |
c
|
PRG040 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 |
53 |
| 442 |
|
SPS003 |
Spastic Diplegia |
53 |
| 443 |
|
GSG001 |
Gas Gangrene |
52 |
| 444 |
|
ANK001 |
Ankylosis |
51 |
| 445 |
P
|
MTC133 |
Mitochondrial Myopathy |
50 |
| 446 |
P
|
CMP008 |
Compartment Syndrome |
50 |
| 447 |
|
47X002 |
47,xyy |
48 |
| 448 |
|
SNT005 |
Sinoatrial Node Disease |
47 |
| 449 |
|
BCK006 |
Back Pain |
47 |
| 450 |
|
MYF002 |
Myofascial Pain Syndrome |
46 |
| 451 |
|
MSC028 |
Muscular Dystrophy, Congenital, Megaconial Type |
45 |
| 452 |
c
|
CRS017 |
Crisponi/cold-Induced Sweating Syndrome 2 |
44 |
| 453 |
|
CHR667 |
Chromosome 3pter-P25 Deletion Syndrome |
42 |
| 454 |
|
MTC004 |
Mitochondrial Encephalomyopathy |
42 |
| 455 |
c
|
MYP081 |
Myopathy, Myofibrillar, 6 |
41 |
| 456 |
P
|
MYG005 |
Myoglobinuria |
40 |
| 457 |
|
49X006 |
49, Xxxxy Syndrome |
40 |
| 458 |
c
|
MYP022 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 |
38 |
| 459 |
c
|
SVR040 |
Severe Congenital Nemaline Myopathy |
37 |
| 460 |
|
CHR387 |
Chromosome Xp21 Deletion Syndrome |
37 |
| 461 |
|
WHP002 |
Whiplash |
36 |
| 462 |
c
|
INT274 |
Intermediate Congenital Nemaline Myopathy |
36 |
| 463 |
|
DPH006 |
Diaphragmatic Eventration |
34 |
| 464 |
|
MYP038 |
Myopathy, Congenital, Compton-North |
33 |
| 465 |
|
CLC004 |
Calcific Tendinitis |
33 |
| 466 |
|
MYS016 |
Myosclerosis, Autosomal Recessive |
33 |
| 467 |
|
MYP120 |
Myopathy, Distal, with Rimmed Vacuoles |
32 |
| 468 |
c
|
CNG112 |
Congenital Muscular Dystrophy Type 1a |
32 |
| 469 |
|
CRN294 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
31 |
| 470 |
|
INT013 |
Intramuscular Hemangioma |
31 |
| 471 |
|
FCL049 |
Focal Hand Dystonia |
31 |
| 472 |
|
DFF004 |
Diffuse Peritoneal Leiomyomatosis |
30 |
| 473 |
|
3MT008 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
29 |
| 474 |
|
ANS018 |
Anismus |
29 |
| 475 |
|
MYB001 |
Myoblastoma |
28 |
| 476 |
|
CNV006 |
Conventional Leiomyosarcoma |
27 |
| 477 |
|
DMT001 |
Dimethylglycine Dehydrogenase Deficiency |
27 |
| 478 |
|
MCR067 |
Microcoria, Congenital |
27 |
| 479 |
|
LPN001 |
Louping Ill |
27 |
| 480 |
c
|
ATR047 |
Atrioventricular Septal Defect 2 |
26 |
| 481 |
P
|
QLT011 |
Qualitative or Quantitative Defects of Sarcoglycan |
26 |
| 482 |
c
|
ATR067 |
Atrioventricular Septal Defect 4 |
26 |
| 483 |
|
BCP001 |
Bicipital Tenosynovitis |
26 |
| 484 |
|
CNG032 |
Congenital Structural Myopathy |
25 |
| 485 |
c
|
INF031 |
Inflammatory Leiomyosarcoma |
25 |
| 486 |
|
ART136 |
Arthrogryposis, Distal, with Impaired Proprioception and Touch |
25 |
| 487 |
|
MYX006 |
Myxoid Leiomyosarcoma |
24 |
| 488 |
|
PLY114 |
Polyglucosan Body Myopathy 2 |
24 |
| 489 |
|
MTC025 |
Mitochondrial Myopathy with Diabetes |
24 |
| 490 |
|
IMG002 |
Imagawa-Matsumoto Syndrome |
24 |
| 491 |
c
|
ATR071 |
Atrioventricular Septal Defect 5 |
23 |
| 492 |
|
GRN036 |
Granulomatous Myositis |
23 |
| 493 |
|
MYP157 |
Myopathy, Congenital, with Structured Cores and Z-Line Abnormalities |
23 |
| 494 |
|
BLP009 |
Blepharonasofacial Malformation Syndrome |
23 |
| 495 |
c
|
ATR064 |
Atrioventricular Septal Defect 3 |
22 |
| 496 |
c
|
ANT010 |
Anterior Compartment Syndrome |
22 |
| 497 |
|
MYP156 |
Myopathy, Congenital, Progressive, with Scoliosis |
21 |
| 498 |
|
EPD011 |
Epidemic Pleurodynia |
21 |
| 499 |
|
MYS002 |
Myositis Fibrosa |
20 |
| 500 |
|
LVT001 |
Levator Syndrome |
19 |
| 501 |
|
TBL004 |
Tibialis Tendinitis |
19 |
| 502 |
|
MYP026 |
Myopathy - Thyrotoxic |
18 |
| 503 |
c
|
CNG579 |
Congenital Nemaline Myopathy |
18 |
| 504 |
|
MYP039 |
Myopathy, Congenital, with Fiber-Type Disproportion, X-Linked |
17 |
| 505 |
c
|
CNG563 |
Congenital Myopathy with Cores |
16 |
| 506 |
c
|
MYG006 |
Myoglobinuria, Autosomal Dominant |
15 |
| 507 |
|
LCT008 |
Lactate Dehydrogenase Deficiency |
14 |
| 508 |
|
SPR003 |
Superior Vena Cava Leiomyosarcoma |
12 |
| 509 |
c
|
QLT007 |
Qualitative or Quantitative Defects of Delta-Sarcoglycan |
11 |
| 510 |
c
|
QLT013 |
Qualitative or Quantitative Defects of Beta-Sarcoglycan |
10 |
| 511 |
c
|
INT382 |
Intermediate Atrioventricular Septal Defect |
10 |
| 512 |
|
CHL054 |
Childhood Pleomorphic Rhabdomyosarcoma |
10 |
| 513 |
|
ANS008 |
Anus Rhabdomyosarcoma |
6 |
| 514 |
|
MDS008 |
Mediastinum Rhabdomyosarcoma |
5 |
| 515 |
|
TNS002 |
Tenosynovitis of Foot and Ankle |
3 |
| 516 |
c
|
QLT006 |
Qualitative or Quantitative Defects of Gamma-Sarcoglycan |
2 |
| 517 |
c
|
QLT012 |
Qualitative or Quantitative Defects of Alpha-Sarcoglycan |
2 |
| 518 |
c
|
NRN037 |
Neuronopathy, Distal Hereditary Motor, Type Va |
49 |
| 519 |
c
|
GLY097 |
Glycogen Storage Disease Ixb |
44 |
| 520 |
c
|
SPN355 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
33 |
| 521 |
|
NRM016 |
Neuromyotonia and Axonal Neuropathy, Autosomal Recessive |
37 |
| 522 |
c
|
NRN024 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
21 |
| 523 |
c
|
NRN025 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
33 |
| 524 |
c
|
NRN035 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
33 |
| 525 |
c
|
NRN026 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
29 |
| 526 |
P
|
CRP001 |
Carpal Tunnel Syndrome |
66 |
| 527 |
|
RND001 |
Round Ligament Malignant Neoplasm |
9 |
| 528 |
|
DSM004 |
Desmoid Tumor |
66 |
| 529 |
P
|
CHR071 |
Charcot-Marie-Tooth Disease |
64 |
| 530 |
|
STY001 |
Satoyoshi Syndrome |
30 |
| 531 |
|
MLG019 |
Malignant Giant Cell Tumor of the Tendon Sheath |
29 |
| 532 |
c
|
EPS035 |
Episodic Ataxia, Type 2 |
63 |
| 533 |
P
|
EPS003 |
Episodic Ataxia |
59 |
| 534 |
c
|
EPS042 |
Episodic Ataxia, Type 1 |
58 |
| 535 |
P
|
CHR640 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
51 |
| 536 |
c
|
EPS017 |
Episodic Ataxia, Type 6 |
44 |
| 537 |
|
ABD002 |
Abducens Nerve Disease |
38 |
| 538 |
c
|
EPS034 |
Episodic Ataxia, Type 5 |
38 |
| 539 |
c
|
EPS037 |
Episodic Ataxia, Type 4 |
28 |
| 540 |
c
|
EPS015 |
Episodic Ataxia, Type 7 |
28 |
| 541 |
c
|
NRN027 |
Neuronopathy, Distal Hereditary Motor, Type I |
27 |
| 542 |
c
|
EPS014 |
Episodic Ataxia, Type 3 |
27 |
| 543 |
c
|
HRD212 |
Hereditary Episodic Ataxia |
26 |
| 544 |
c
|
EPS048 |
Episodic Ataxia, Type 9 |
26 |
| 545 |
c
|
EPS033 |
Episodic Ataxia, Type 8 |
19 |
| 546 |
|
QZM001 |
Qazi Markouizos Syndrome |
19 |
| 547 |
|
DFF006 |
Diffuse Idiopathic Skeletal Hyperostosis |
50 |
| 548 |
|
PLN006 |
Poland Syndrome |
44 |
| 549 |
|
VSC049 |
Visceral Myopathy, Familial, with External Ophthalmoplegia |
25 |
| 550 |
c
|
NRN050 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
23 |
| 551 |
|
BRD006 |
Broad Ligament Malignant Neoplasm |
8 |
| 552 |
c
|
DLT002 |
Dilated Cardiomyopathy |
78 |
| 553 |
c
|
DYS056 |
Dystonia 12 |
63 |
| 554 |
P
|
CHR625 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1b |
57 |
| 555 |
P
|
NRC002 |
Narcolepsy |
56 |
| 556 |
|
PLY118 |
Polyglucosan Body Myopathy 1 with or Without Immunodeficiency |
55 |
| 557 |
c
|
CRD093 |
Cardiomyopathy, Dilated, 1a |
53 |
| 558 |
c
|
CRD099 |
Cardiomyopathy, Dilated, 1e |
53 |
| 559 |
P
|
HRD094 |
Hereditary Motor and Sensory Neuropathy, Type Iic |
48 |
| 560 |
c
|
CRD233 |
Cardiomyopathy, Dilated, 1b |
46 |
| 561 |
|
AMY086 |
Amyotrophy, Hereditary Neuralgic |
45 |
| 562 |
c
|
CRD097 |
Cardiomyopathy, Dilated, 1d |
45 |
| 563 |
c
|
CRD069 |
Cardiomyopathy, Dilated, 1h |
42 |
| 564 |
c
|
CRD105 |
Cardiomyopathy, Dilated, 1o |
41 |
| 565 |
c
|
CRD102 |
Cardiomyopathy, Dilated, 1j |
41 |
| 566 |
c
|
CRD091 |
Cardiomyopathy, Dilated, 1dd |
40 |
| 567 |
c
|
CRD090 |
Cardiomyopathy, Dilated, 1l |
40 |
| 568 |
c
|
CRD080 |
Cardiomyopathy, Dilated, 1g |
39 |
| 569 |
P
|
CHR453 |
Charcot-Marie-Tooth Hereditary Neuropathy |
39 |
| 570 |
|
SLH001 |
Salih Myopathy |
38 |
| 571 |
|
MDN008 |
Median Arcuate Ligament Syndrome |
37 |
| 572 |
c
|
CRD082 |
Cardiomyopathy, Dilated, 1gg |
37 |
| 573 |
c
|
CRD114 |
Cardiomyopathy, Dilated, 1m |
36 |
| 574 |
c
|
CRD104 |
Cardiomyopathy, Dilated, 1p |
35 |
| 575 |
c
|
LMN001 |
Lmna-Related Dilated Cardiomyopathy |
34 |
| 576 |
c
|
HRD138 |
Hereditary Motor and Sensory Neuropathy V |
32 |
| 577 |
c
|
CRD101 |
Cardiomyopathy, Dilated, 1x |
31 |
| 578 |
c
|
CRD096 |
Cardiomyopathy, Dilated, 1ee |
31 |
| 579 |
c
|
CRD155 |
Cardiomyopathy, Dilated, 1kk |
30 |
| 580 |
c
|
ATM102 |
Autoimmune Cardiomyopathy |
29 |
| 581 |
c
|
CRD107 |
Cardiomyopathy, Dilated, 1r |
28 |
| 582 |
|
MYP163 |
Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay |
27 |
| 583 |
c
|
CRD111 |
Cardiomyopathy, Dilated, 1i |
25 |
| 584 |
|
PRF003 |
Piriformis Syndrome |
25 |
| 585 |
c
|
CRD159 |
Cardiomyopathy, Dilated, 1hh |
25 |
| 586 |
c
|
CRD149 |
Cardiomyopathy, Dilated, 1jj |
24 |
| 587 |
c
|
CRD092 |
Cardiomyopathy, Dilated, 1w |
24 |
| 588 |
c
|
CRD113 |
Cardiomyopathy, Dilated, 1v |
24 |
| 589 |
c
|
CRD112 |
Cardiomyopathy, Dilated, 1u |
24 |
| 590 |
c
|
CRD063 |
Cardiomyopathy, Dilated, 2a |
23 |
| 591 |
c
|
CRD162 |
Cardiomyopathy, Dilated, 1ii |
23 |
| 592 |
c
|
CRD064 |
Cardiomyopathy, Dilated, 1ff |
23 |
| 593 |
c
|
CRD153 |
Cardiomyopathy, Dilated, 2b |
23 |
| 594 |
c
|
CRD115 |
Cardiomyopathy, Dilated, 1cc |
23 |
| 595 |
c
|
CRD108 |
Cardiomyopathy, Dilated, 1bb |
22 |
| 596 |
c
|
DLT017 |
Dilated Cardiomyopathy 1t |
22 |
| 597 |
c
|
CRD060 |
Cardiomyopathy, Dilated, 1z |
21 |
| 598 |
c
|
CRD173 |
Cardiomyopathy, Dilated, 1nn |
21 |
| 599 |
c
|
CRD244 |
Cardiomyopathy, Dilated, 2c |
20 |
| 600 |
c
|
CHR121 |
Charcot-Marie-Tooth Neuropathy X Type 5 |
17 |
| 601 |
P
|
RRC004 |
Rare Cardiomyopathy |
16 |
| 602 |
c
|
CRD070 |
Cardiomyopathy, Dilated, 1k |
13 |
| 603 |
c
|
CRD071 |
Cardiomyopathy, Dilated, 1q |
13 |
| 604 |
c
|
GDP003 |
Gdap1-Related Hereditary Motor and Sensory Neuropathy |
12 |
| 605 |
c
|
CRD027 |
Cardiomyopathy Due to Anthracyclines |
9 |
| 606 |
P
|
HYP370 |
Hypokalemic Periodic Paralysis, Type 1 |
64 |
| 607 |
|
LMY014 |
Leiomyoma, Uterine |
56 |
| 609 |
c
|
NRN040 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
45 |
| 610 |
c
|
HYP606 |
Hypokalemic Periodic Paralysis, Type 2 |
37 |
| 611 |
|
NCR015 |
Necrotizing Autoimmune Myopathy |
27 |
| 612 |
P
|
SKL032 |
Skeletal Muscle Disease |
25 |
| 613 |
|
CNN005 |
Connective Tissue Disease |
67 |
| 614 |
P
|
MTR014 |
Motor Neuron Disease |
65 |
| 615 |
|
NRM005 |
Neuromuscular Disease |
63 |
| 616 |
|
CNV004 |
Canavan Disease |
62 |
| 617 |
|
ARR042 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
61 |
| 618 |
P
|
LTR001 |
Lateral Sclerosis |
58 |
| 619 |
c
|
CHR627 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a |
56 |
| 620 |
|
DYS161 |
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency |
56 |
| 621 |
|
MYS061 |
Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency |
51 |
| 622 |
|
CRT033 |
Corticobasal Degeneration |
47 |
| 623 |
c
|
MYS055 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
47 |
| 624 |
P
|
HYP265 |
Hypotonia |
42 |
| 625 |
|
ALC010 |
Alcoholic Cardiomyopathy |
42 |
| 626 |
c
|
DST106 |
Distal Hereditary Motor Neuronopathy Type 2 |
41 |
| 627 |
c
|
PRM092 |
Primary Lateral Sclerosis, Adult, 1 |
38 |
| 628 |
P
|
PRS124 |
Presynaptic Congenital Myasthenic Syndromes |
36 |
| 629 |
c
|
PRM195 |
Primary Lateral Sclerosis, Juvenile |
35 |
| 630 |
c
|
MYS069 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
35 |
| 631 |
P
|
ATS426 |
Autosomal Dominant Distal Hereditary Motor Neuronopathy |
33 |
| 632 |
|
NRP009 |
Neuropathy, Hereditary Motor and Sensory, Okinawa Type |
32 |
| 633 |
P
|
TRC015 |
Trochlear Nerve Disease |
27 |
| 634 |
|
MGB001 |
Megabladder, Congenital |
23 |
| 635 |
|
ENC048 |
Encephalopathy, Progressive, with Amyotrophy and Optic Atrophy |
23 |
| 636 |
P
|
DST101 |
Distal Hereditary Motor Neuropathies |
23 |
| 637 |
|
CMP076 |
Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases |
22 |
| 638 |
c
|
MYS081 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
21 |
| 639 |
c
|
MYS080 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
20 |
| 640 |
|
FLP002 |
Floppy Infant Syndrome |
13 |
| 641 |
|
UTR040 |
Uterine Ligament Adenocarcinoma |
8 |
| 642 |
|
UTR002 |
Uterine Ligament Mucinous Adenocarcinoma |
5 |
| 643 |
|
UTR027 |
Uterine Ligament Clear Cell Adenocarcinoma |
5 |
| 644 |
|
UTR012 |
Uterine Ligament Serous Adenocarcinoma |
5 |
| 645 |
|
UTR001 |
Uterine Ligament Endometrioid Adenocarcinoma |
5 |
| 646 |
c
|
ACQ067 |
Acquired Motor Neuron Disease |
5 |
| 647 |
c
|
RRT018 |
Rare Trochlear Nerve Disorder |
4 |
| 648 |
c
|
NRD033 |
Neurodegeneration with Brain Iron Accumulation 2a |
70 |
| 649 |
c
|
HMP004 |
Hemophilia B |
68 |
| 650 |
P
|
CNG001 |
Congenital Myasthenic Syndrome |
68 |
| 651 |
c
|
HMP029 |
Hemophilia a |
68 |
| 652 |
P
|
EPL164 |
Epilepsy |
68 |
| 653 |
c
|
NRD017 |
Neurodegeneration with Brain Iron Accumulation 1 |
63 |
| 654 |
c
|
MTC056 |
Mitochondrial Dna Depletion Syndrome 4a |
62 |
| 655 |
P
|
NRP063 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
58 |
| 656 |
P
|
CHR654 |
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
58 |
| 657 |
c
|
BNG023 |
Benign Familial Infantile Epilepsy |
57 |
| 658 |
|
CRB150 |
Cerebral Creatine Deficiency Syndrome 2 |
54 |
| 659 |
c
|
MTC055 |
Mitochondrial Dna Depletion Syndrome 4b |
54 |
| 660 |
|
STF002 |
Stiff Skin Syndrome |
53 |
| 661 |
c
|
MTC054 |
Mitochondrial Dna Depletion Syndrome 7 |
53 |
| 662 |
c
|
LKD019 |
Leukodystrophy, Hypomyelinating, 6 |
52 |
| 663 |
P
|
NRD007 |
Neurodegeneration with Brain Iron Accumulation |
52 |
| 664 |
c
|
MTC063 |
Mitochondrial Dna Depletion Syndrome 3 |
51 |
| 665 |
c
|
NRD032 |
Neurodegeneration with Brain Iron Accumulation 5 |
51 |
| 666 |
c
|
CHR646 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b |
50 |
| 667 |
c
|
MTC060 |
Mitochondrial Dna Depletion Syndrome 9 |
50 |
| 668 |
c
|
NRD016 |
Neurodegeneration with Brain Iron Accumulation 6 |
50 |
| 669 |
c
|
CRD187 |
Cardiomyopathy, Dilated, 3b |
48 |
| 670 |
c
|
CHR420 |
Charcot-Marie-Tooth Disease, Type 4j |
48 |
| 671 |
c
|
LKD010 |
Leukodystrophy, Hypomyelinating, 2 |
48 |
| 672 |
c
|
MTC059 |
Mitochondrial Dna Depletion Syndrome 5 |
48 |
| 673 |
c
|
CHR519 |
Charcot-Marie-Tooth Disease, Type 4b2 |
48 |
| 674 |
c
|
MTC061 |
Mitochondrial Dna Depletion Syndrome 1 |
47 |
| 675 |
c
|
CHR376 |
Charcot-Marie-Tooth Disease, Type 4d |
47 |
| 676 |
c
|
MTC058 |
Mitochondrial Dna Depletion Syndrome 6 |
47 |
| 677 |
c
|
CHR521 |
Charcot-Marie-Tooth Disease, Type 4b1 |
47 |
| 678 |
c
|
CHR350 |
Charcot-Marie-Tooth Disease, Axonal, Type 2k |
47 |
| 679 |
c
|
CHR647 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1c |
46 |
| 680 |
c
|
CHR352 |
Charcot-Marie-Tooth Disease, Axonal, Type 2f |
45 |
| 681 |
|
MLT075 |
Multifocal Motor Neuropathy |
45 |
| 682 |
c
|
ACQ014 |
Acquired Hemophilia |
45 |
| 683 |
c
|
MYS074 |
Myasthenic Syndrome, Congenital, 12 |
45 |
| 684 |
c
|
LKD009 |
Leukodystrophy, Hypomyelinating, 5 |
45 |
| 685 |
c
|
CHR517 |
Charcot-Marie-Tooth Disease, Type 4a |
45 |
| 686 |
c
|
CHR608 |
Charcot-Marie-Tooth Disease, Axonal, Type 2p |
45 |
| 687 |
c
|
NRD009 |
Neurodegeneration with Brain Iron Accumulation 2b |
44 |
| 688 |
|
ADN022 |
Adenylosuccinase Deficiency |
44 |
| 689 |
c
|
MYS052 |
Myasthenic Syndrome, Congenital, 10 |
43 |
| 690 |
c
|
MTC062 |
Mitochondrial Dna Depletion Syndrome 2 |
43 |
| 691 |
c
|
CHR670 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f |
43 |
| 692 |
|
MLT028 |
Multiminicore Disease |
43 |
| 693 |
c
|
LKD020 |
Leukodystrophy, Hypomyelinating, 10 |
43 |
| 694 |
c
|
MTC088 |
Mitochondrial Dna Depletion Syndrome 13 |
43 |
| 695 |
c
|
LKD015 |
Leukodystrophy, Hypomyelinating, 3 |
42 |
| 696 |
c
|
SPS219 |
Spastic Paraplegia 17, Autosomal Dominant |
42 |
| 697 |
c
|
CHR351 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n |
41 |
| 698 |
c
|
NRD014 |
Neurodegeneration with Brain Iron Accumulation 4 |
41 |
| 699 |
c
|
CHR353 |
Charcot-Marie-Tooth Disease, Axonal, Type 2l |
41 |
| 700 |
|
MTR007 |
Motor Peripheral Neuropathy |
40 |
| 701 |
P
|
CRB045 |
Cerebellar Hypoplasia |
40 |
| 702 |
c
|
CHR651 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 |
39 |
| 703 |
c
|
MTC065 |
Mitochondrial Dna Depletion Syndrome 8a |
39 |
| 704 |
|
CRB148 |
Cerebral Creatine Deficiency Syndrome 3 |
39 |
| 705 |
c
|
MYS075 |
Myasthenic Syndrome, Congenital, 13 |
39 |
| 706 |
c
|
CHR657 |
Charcot-Marie-Tooth Disease, Axonal, Type 2j |
39 |
| 707 |
c
|
CHR652 |
Charcot-Marie-Tooth Disease, Axonal, Type 2i |
38 |
| 708 |
c
|
LKD023 |
Leukodystrophy, Hypomyelinating, 12 |
38 |
| 709 |
c
|
CHR548 |
Charcot-Marie-Tooth Disease, Axonal, Type 2v |
38 |
| 710 |
c
|
GLY009 |
Glycogen Storage Disease Xv |
37 |
| 711 |
c
|
ACQ042 |
Acquired Hemophilia a |
37 |
| 712 |
|
DYS140 |
Dyskinesia, Familial, with Facial Myokymia |
37 |
| 713 |
P
|
SPN448 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity |
37 |
| 714 |
c
|
CHR671 |
Charcot-Marie-Tooth Disease, Axonal, Type 2r |
37 |
| 715 |
c
|
CHR542 |
Charcot-Marie-Tooth Disease, Axonal, Type 2t |
36 |
| 716 |
|
FCL041 |
Focal Myositis |
36 |
| 717 |
|
NRP010 |
Neuropathy, Hereditary Motor and Sensory, Russe Type |
36 |
| 718 |
c
|
CHR626 |
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
36 |
| 719 |
c
|
LKD008 |
Leukodystrophy, Hypomyelinating, 4 |
36 |
| 720 |
c
|
CHR660 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a |
35 |
| 721 |
c
|
MYS067 |
Myasthenic Syndrome, Congenital, 22 |
35 |
| 722 |
|
ART163 |
Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
35 |
| 723 |
c
|
LKD021 |
Leukodystrophy, Hypomyelinating, 11 |
35 |
| 724 |
|
FTD001 |
Foot Drop |
35 |
| 725 |
c
|
LKD016 |
Leukodystrophy, Hypomyelinating, 9 |
34 |
| 726 |
P
|
HYP700 |
Hypomyelinating Leukodystrophy |
34 |
| 727 |
|
BRC010 |
Brachial Plexus Lesion |
34 |
| 728 |
c
|
CHR544 |
Charcot-Marie-Tooth Disease, Axonal, Type 2w |
34 |
| 729 |
c
|
CHR609 |
Charcot-Marie-Tooth Disease, Type 4k |
33 |
| 730 |
P
|
OCL076 |
Oculopharyngodistal Myopathy 1 |
32 |
| 731 |
c
|
CHR489 |
Charcot-Marie-Tooth Disease, Axonal, Type 2q |
32 |
| 732 |
c
|
SPN263 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 |
32 |
| 733 |
c
|
MTC126 |
Mitochondrial Dna Depletion Syndrome 14 |
31 |
| 734 |
c
|
CHR668 |
Charcot-Marie-Tooth Disease, Axonal, Type 2o |
30 |
| 735 |
c
|
MYS044 |
Myasthenic Syndrome, Congenital, 7, Presynaptic |
29 |
| 736 |
c
|
INF185 |
Infantile Epilepsy Syndrome |
29 |
| 737 |
c
|
MTC143 |
Mitochondrial Dna Depletion Syndrome 12b |
27 |
| 738 |
c
|
CHR545 |
Charcot-Marie-Tooth Disease, Axonal, Type 2h |
27 |
| 739 |
c
|
LKD031 |
Leukodystrophy, Hypomyelinating, 18 |
25 |
| 740 |
|
HRD141 |
Hereditary Proximal Myopathy with Early Respiratory Failure |
25 |
| 741 |
c
|
DST105 |
Distal Hereditary Motor Neuronopathy Type 7 |
24 |
| 742 |
|
MLN064 |
Melanoma of Soft Tissue |
24 |
| 743 |
c
|
LKD027 |
Leukodystrophy, Hypomyelinating, 14 |
24 |
| 744 |
|
PLM104 |
Palmoplantar Keratoderma, Nagashima Type |
24 |
| 745 |
c
|
MTC182 |
Mitochondrial Dna Depletion Syndrome 16 |
23 |
| 746 |
c
|
LKD028 |
Leukodystrophy, Hypomyelinating, 15 |
23 |
| 747 |
|
48X002 |
48,xxxy Syndrome |
23 |
| 748 |
c
|
LKD030 |
Leukodystrophy, Hypomyelinating, 17 |
23 |
| 749 |
c
|
CRB209 |
Cerebellar Malformation |
23 |
| 750 |
c
|
LKD022 |
Leukodystrophy, Hypomyelinating, 13 |
22 |
| 751 |
c
|
SPN434 |
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 3 |
22 |
| 752 |
c
|
NRD047 |
Neurodegeneration with Brain Iron Accumulation 7 |
22 |
| 753 |
c
|
INF065 |
Infantile Hypotonia |
21 |
| 754 |
c
|
MTC213 |
Mitochondrial Dna Depletion Syndrome 19 |
21 |
| 755 |
c
|
MTC204 |
Mitochondrial Dna Depletion Syndrome 18 |
21 |
| 756 |
c
|
CHR681 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1g |
20 |
| 757 |
c
|
NRN042 |
Neuronopathy, Distal Hereditary Motor, Type Ix |
20 |
| 758 |
c
|
LKD029 |
Leukodystrophy, Hypomyelinating, 16 |
20 |
| 759 |
c
|
NRD048 |
Neurodegeneration with Brain Iron Accumulation 8 |
20 |
| 760 |
c
|
LKD033 |
Leukodystrophy, Hypomyelinating, 20 |
20 |
| 761 |
c
|
MTC200 |
Mitochondrial Dna Depletion Syndrome 17 |
20 |
| 762 |
|
PRT108 |
Puerto Rican Infant Hypotonia Syndrome |
19 |
| 763 |
c
|
LKD032 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
19 |
| 764 |
c
|
MTC142 |
Mitochondrial Dna Depletion Syndrome 12a |
17 |
| 765 |
c
|
RRP028 |
Rare Epilepsy |
17 |
| 766 |
c
|
MTC014 |
Mitochondrial Dna Deletion Syndromes |
16 |
| 767 |
c
|
KCN020 |
Kcnt1-Related Epilepsy |
13 |
| 768 |
|
PRN061 |
Prenatal-Onset Spinal Muscular Atrophy with Congenital Bone Fractures |
13 |
| 769 |
c
|
ATS421 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect |
13 |
| 770 |
c
|
DPD002 |
Depdc5-Related Epilepsy |
13 |
| 771 |
|
XLN239 |
X-Linked Distal Hereditary Motor Neuropathy |
12 |
| 772 |
|
SPN396 |
Spinal Muscular Atrophy with Mental Retardation |
12 |
| 773 |
c
|
ATS428 |
Autosomal Recessive Distal Hereditary Motor Neuropathy |
12 |
| 774 |
|
MSC159 |
Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers |
12 |
| 775 |
|
INV014 |
Inverse Klippel-Trenaunay Syndrome |
11 |
| 776 |
|
SPR121 |
Superior Transverse Scapular Ligament, Calcification of, Familial |
8 |
| 777 |
|
MSC143 |
Muscle Cramps, Familial |
8 |
| 778 |
c
|
MLT169 |
Multiple Mitochondrial Dna Deletion Syndrome |
7 |
| 779 |
|
ACR045 |
Acro-Pectoro-Renal Field Defect |
5 |
| 780 |
c
|
ACQ057 |
Acquired Skeletal Muscle Disease |
4 |
| 781 |
c
|
INF176 |
Infectious Disease with Epilepsy |
4 |
| 782 |
c
|
INF177 |
Inflammatory and Autoimmune Disease with Epilepsy |
4 |
| 783 |
|
DSR016 |
Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis with Skeletal Muscle Predominant Involvement |
4 |
| 784 |
|
SPN436 |
Spinal Muscular Atrophy Associated with Central Nervous System Anomaly |
3 |
| 785 |
|
GNT172 |
Genetic Neurological Muscular Channelopathy |
3 |
| 786 |
c
|
NRL028 |
Neurological Muscular Channelopathy Due to a Genetic Ryanodine Receptor Defect |
3 |
| 787 |
c
|
NRL031 |
Neurological Muscular Channelopathy Due to a Genetic Chloride Channel Defect |
3 |
| 788 |
c
|
AMY091 |
Amyotrophic Lateral Sclerosis 1 |
88 |
| 789 |
P
|
CRN300 |
Coronary Heart Disease 1 |
73 |
| 790 |
P
|
FCS012 |
Facioscapulohumeral Muscular Dystrophy 1 |
68 |
| 791 |
c
|
LNG044 |
Long Qt Syndrome 1 |
66 |
| 792 |
|
HLT001 |
Holt-Oram Syndrome |
66 |
| 793 |
P
|
MLG056 |
Malignant Hyperthermia |
66 |
| 794 |
c
|
MSC165 |
Muscular Dystrophy, Congenital, Lmna-Related |
65 |
| 795 |
P
|
LNG028 |
Long Qt Syndrome |
64 |
| 796 |
c
|
MSC036 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
64 |
| 797 |
|
SPN186 |
Spinal Cord Injury |
61 |
| 798 |
P
|
DRM010 |
Dermatomyositis |
61 |
| 799 |
|
YLL002 |
Yellow Fever |
61 |
| 800 |
c
|
LNG047 |
Long Qt Syndrome 2 |
59 |
| 801 |
|
PSD012 |
Pseudoachondroplasia |
59 |
| 802 |
c
|
ART061 |
Arthrogryposis, Distal, Type 2a |
58 |
| 803 |
c
|
MYT020 |
Myotonic Dystrophy 2 |
57 |
| 804 |
c
|
FML191 |
Familial Long Qt Syndrome |
55 |
| 805 |
|
HYP706 |
Hypermobile Ehlers-Danlos Syndrome |
55 |
| 806 |
|
CHR073 |
Choreatic Disease |
54 |
| 807 |
|
TND005 |
Tendinitis |
54 |
| 808 |
c
|
LNG048 |
Long Qt Syndrome 3 |
53 |
| 809 |
P
|
THY054 |
Thyrotoxic Periodic Paralysis |
50 |
| 810 |
c
|
MYP078 |
Myopathy, Myofibrillar, 3 |
50 |
| 811 |
|
TBL009 |
Tibial Muscular Dystrophy |
50 |
| 812 |
P
|
MYF003 |
Myofibrillar Myopathy |
49 |
| 813 |
c
|
CHR095 |
Chronic Progressive External Ophthalmoplegia |
49 |
| 814 |
c
|
AMY045 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
49 |
| 815 |
P
|
ART106 |
Arterial Calcification, Generalized, of Infancy, 1 |
48 |
| 816 |
c
|
MGL009 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 |
48 |
| 817 |
P
|
MTC010 |
Mitochondrial Dna Depletion Syndrome |
47 |
| 818 |
c
|
CHR422 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
46 |
| 819 |
|
GRW007 |
Growth Hormone Deficiency |
46 |
| 820 |
|
SPS007 |
Spastic Cerebral Palsy |
46 |
| 821 |
c
|
LNG050 |
Long Qt Syndrome 5 |
46 |
| 822 |
c
|
LNG051 |
Long Qt Syndrome 6 |
45 |
| 823 |
c
|
CHR650 |
Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
45 |
| 824 |
|
QBC001 |
Quebec Platelet Disorder |
44 |
| 825 |
|
MYS001 |
Myositis Ossificans |
44 |
| 826 |
c
|
AMY090 |
Amyotrophic Lateral Sclerosis 8 |
43 |
| 827 |
c
|
ATS298 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
43 |
| 828 |
|
TRC026 |
Tracheal Disease |
43 |
| 829 |
P
|
JVN050 |
Juvenile Amyotrophic Lateral Sclerosis |
42 |
| 830 |
|
BRK012 |
Broken Heart Syndrome |
42 |
| 831 |
|
DPH021 |
Diaphragm Disease |
42 |
| 832 |
|
PYM001 |
Pyomyositis |
42 |
| 833 |
c
|
CHR484 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
42 |
| 834 |
|
ORB013 |
Orbital Disease |
42 |
| 835 |
c
|
LNG098 |
Long Qt Syndrome 14 |
42 |
| 836 |
|
CHR659 |
Chromosome 22q11.2 Duplication Syndrome |
42 |
| 837 |
c
|
LNG053 |
Long Qt Syndrome 9 |
42 |
| 838 |
|
FCL022 |
Focal Dystonia |
42 |
| 839 |
c
|
FCS011 |
Facioscapulohumeral Muscular Dystrophy 2 |
41 |
| 840 |
c
|
LNG096 |
Long Qt Syndrome 15 |
41 |
| 841 |
c
|
LNG045 |
Long Qt Syndrome 10 |
41 |
| 842 |
c
|
CHR371 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
41 |
| 843 |
c
|
LNG056 |
Long Qt Syndrome 12 |
41 |
| 844 |
c
|
AMY058 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
41 |
| 845 |
|
URT031 |
Ureteral Disease |
41 |
| 846 |
P
|
MGL010 |
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a |
40 |
| 847 |
P
|
MYP105 |
Myopathy, Myosin Storage, Autosomal Dominant |
40 |
| 848 |
c
|
LNG057 |
Long Qt Syndrome 13 |
40 |
| 849 |
|
SPN009 |
Spindle Cell Rhabdomyosarcoma |
39 |
| 850 |
|
MLT016 |
Multicentric Reticulohistiocytosis |
39 |
| 851 |
c
|
AMY069 |
Amyotrophic Lateral Sclerosis 21 |
39 |
| 852 |
c
|
LNG046 |
Long Qt Syndrome 11 |
39 |
| 853 |
c
|
AMY083 |
Amyotrophic Lateral Sclerosis 11 |
39 |
| 854 |
|
PHS018 |
Phosphorylase Kinase Deficiency |
39 |
| 855 |
c
|
CHR547 |
Charcot-Marie-Tooth Disease, Axonal, Type 2u |
38 |
| 856 |
|
3MT011 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
38 |
| 857 |
c
|
AMY057 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
38 |
| 858 |
c
|
MSC180 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
37 |
| 859 |
c
|
PRX088 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
37 |
| 860 |
c
|
AMY085 |
Amyotrophic Lateral Sclerosis 9 |
36 |
| 861 |
|
HYP264 |
Hypertonia |
36 |
| 862 |
c
|
CHR666 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
36 |
| 863 |
c
|
CHR617 |
Charcot-Marie-Tooth Disease, Axonal, Type 2z |
35 |
| 864 |
|
SHL001 |
Shoulder Impingement Syndrome |
35 |
| 865 |
c
|
MYP095 |
Myopathy, Distal, 4 |
34 |
| 866 |
|
PLY021 |
Polyradiculopathy |
34 |
| 867 |
c
|
TRM024 |
Tremor, Hereditary Essential, 1 |
34 |
| 868 |
c
|
THY084 |
Thyrotoxic Periodic Paralysis 1 |
34 |
| 869 |
c
|
AMY059 |
Amyotrophic Lateral Sclerosis 19 |
34 |
| 870 |
c
|
NRN018 |
Neuronopathy, Distal Hereditary Motor, Type Iic |
34 |
| 871 |
c
|
AMY067 |
Amyotrophic Lateral Sclerosis 18 |
34 |
| 872 |
c
|
AMY023 |
Amyotrophic Lateral Sclerosis Type 6 |
34 |
| 873 |
c
|
MYP106 |
Myopathy, Myosin Storage, Autosomal Recessive |
33 |
| 874 |
|
7Q1002 |
7q11.23 Duplication Syndrome |
33 |
| 875 |
c
|
LMB073 |
Limb-Girdle Muscular Dystrophy Type 1a |
33 |
| 876 |
c
|
NRN041 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
33 |
| 877 |
c
|
MYS064 |
Myasthenic Syndrome, Congenital, 16 |
33 |
| 878 |
c
|
AMY022 |
Amyotrophic Lateral Sclerosis Type 5 |
33 |
| 879 |
c
|
ADL027 |
Adult Dermatomyositis |
32 |
| 880 |
c
|
CHR481 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
32 |
| 881 |
|
ADR023 |
Adrenomyodystrophy |
32 |
| 882 |
|
CLL038 |
Collagen Vi-Related Myopathy |
31 |
| 883 |
|
SPS016 |
Spasmodic Dysphonia |
31 |
| 884 |
|
DYS001 |
Dyskinetic Cerebral Palsy |
31 |
| 885 |
c
|
AMY088 |
Amyotrophic Lateral Sclerosis 3 |
31 |
| 886 |
c
|
AMY063 |
Amyotrophic Lateral Sclerosis 20 |
31 |
| 887 |
c
|
CRN214 |
Coronary Heart Disease 5 |
31 |
| 888 |
c
|
AMY094 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
31 |
| 889 |
c
|
CHR491 |
Charcot-Marie-Tooth Disease, Dominant Intermediate a |
30 |
| 890 |
|
LNG023 |
Lung Leiomyosarcoma |
30 |
| 891 |
|
EPT011 |
Epithelioid Leiomyosarcoma |
29 |
| 892 |
|
DST103 |
Distal Muscular Dystrophy with Anterior Tibial Onset |
29 |
| 893 |
c
|
MSC058 |
Muscular Dystrophy, Limb-Girdle, Type 1h |
29 |
| 894 |
c
|
MYP088 |
Myopathy, Tubular Aggregate, 2 |
29 |
| 895 |
c
|
CHR025 |
Charcot-Marie-Tooth Disease Intermediate Type |
29 |
| 896 |
|
PTL003 |
Patellar Tendinitis |
29 |
| 897 |
c
|
AMY081 |
Amyotrophic Lateral Sclerosis Type 12 |
28 |
| 898 |
c
|
MSC041 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 |
28 |
| 899 |
c
|
CHR618 |
Charcot-Marie-Tooth Disease, Axonal, Type 2cc |
28 |
| 900 |
c
|
AMY089 |
Amyotrophic Lateral Sclerosis 7 |
28 |
| 901 |
c
|
CHR699 |
Charcot-Marie-Tooth Disease Type 2a2a |
28 |
| 902 |
|
ENT010 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
27 |
| 903 |
c
|
CHR514 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
27 |
| 904 |
|
MD1003 |
Med13l Haploinsufficiency Syndrome |
27 |
| 905 |
c
|
THY083 |
Thyrotoxic Periodic Paralysis 2 |
27 |
| 906 |
c
|
ULL003 |
Ullrich Congenital Muscular Dystrophy 2 |
26 |
| 907 |
c
|
AMY079 |
Amyotrophic Lateral Sclerosis Type 15 |
26 |
| 908 |
|
TRS001 |
Tarsal Tunnel Syndrome |
26 |
| 909 |
|
CLN012 |
Colon Leiomyosarcoma |
26 |
| 910 |
|
STC018 |
Stac3 Disorder |
26 |
| 911 |
c
|
CHR026 |
Charcot-Marie-Tooth Disease Type X |
25 |
| 912 |
c
|
LMB074 |
Limb-Girdle Muscular Dystrophy Type 1b |
25 |
| 913 |
c
|
CHR613 |
Charcot-Marie-Tooth Disease, Axonal, Type 2x |
25 |
| 914 |
c
|
LNG052 |
Long Qt Syndrome 8 |
24 |
| 915 |
|
MYP121 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
24 |
| 916 |
|
OVR035 |
Ovary Leiomyosarcoma |
24 |
| 917 |
|
MYP164 |
Myopathy, Congenital, with Diaphragmatic Defects, Respiratory Insufficiency, and Dysmorphic Facies |
24 |
| 918 |
|
MTC094 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
24 |
| 919 |
c
|
SCK022 |
Sick Sinus Syndrome 3 |
23 |
| 920 |
|
MYP104 |
Myopathy, Vacuolar, with Casq1 Aggregates |
23 |
| 921 |
c
|
CHR135 |
Charcot-Marie-Tooth Disease Type 2a |
23 |
| 922 |
|
GLL016 |
Gallbladder Leiomyosarcoma |
23 |
| 923 |
c
|
CHR571 |
Charcot-Marie-Tooth Disease Type 5 |
23 |
| 924 |
c
|
AMY110 |
Amyotrophic Lateral Sclerosis 24 |
22 |
| 925 |
c
|
MTC129 |
Mitochondrial Dna Depletion Syndrome 15 |
22 |
| 926 |
c
|
SNG012 |
Singleton-Merten Syndrome 2 |
22 |
| 927 |
c
|
LNG114 |
Long Qt Syndrome 16 |
22 |
| 928 |
|
WND002 |
Wandering Spleen |
22 |
| 929 |
|
MSC004 |
Muscle Tissue Disease |
22 |
| 930 |
c
|
AMY108 |
Amyotrophic Lateral Sclerosis 23 |
21 |
| 931 |
|
SRB001 |
Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy |
21 |
| 932 |
c
|
AMY074 |
Amyotrophic Lateral Sclerosis Type 14 |
21 |
| 933 |
c
|
MSC188 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 8 |
21 |
| 934 |
c
|
CRP037 |
Carpal Tunnel Syndrome 2 |
21 |
| 935 |
c
|
CHR549 |
Charcot-Marie-Tooth Disease Type 2l |
21 |
| 936 |
c
|
MYS019 |
Miyoshi Muscular Dystrophy 2 |
20 |
| 937 |
c
|
MYF011 |
Myofibrillar Myopathy 10 |
20 |
| 938 |
c
|
ATS165 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g |
20 |
| 939 |
c
|
AMY109 |
Amyotrophic Lateral Sclerosis Type 22 |
20 |
| 940 |
c
|
AMY112 |
Amyotrophic Lateral Sclerosis 25 |
19 |
| 941 |
c
|
CRN174 |
Coronary Heart Disease 2 |
19 |
| 942 |
c
|
ATS272 |
Autosomal Dominant Intermediate Charcot-Marie-Tooth |
19 |
| 943 |
|
BNL001 |
Bone Leiomyosarcoma |
19 |
| 944 |
c
|
CRN178 |
Coronary Heart Disease 6 |
18 |
| 945 |
|
PRX013 |
Proximal Chromosome 18q Deletion Syndrome |
18 |
| 946 |
|
FTL045 |
Fatal Infantile Hypertonic Myofibrillar Myopathy |
18 |
| 947 |
P
|
WHS002 |
Whistling Face Syndrome, Recessive Form |
18 |
| 948 |
c
|
CHR700 |
Charcot-Marie-Tooth Disease Type 2a2b |
17 |
| 949 |
c
|
CRN177 |
Coronary Heart Disease 7 |
17 |
| 950 |
c
|
TRD001 |
Tardbp-Related Amyotrophic Lateral Sclerosis |
17 |
| 951 |
|
CRM010 |
Cramp-Fasciculation Syndrome |
17 |
| 952 |
|
CNT021 |
Central Nervous System Rhabdomyosarcoma |
17 |
| 953 |
c
|
CRN172 |
Coronary Heart Disease 3 |
15 |
| 954 |
|
FBR090 |
Fibro-Adipose Vascular Anomaly |
15 |
| 955 |
c
|
DNJ004 |
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 |
15 |
| 956 |
c
|
CHR701 |
Charcot-Marie-Tooth Disease Type 1g |
15 |
| 957 |
c
|
VRL025 |
Viral Myositis |
14 |
| 958 |
c
|
CRN175 |
Coronary Heart Disease 4 |
14 |
| 959 |
c
|
CRN176 |
Coronary Heart Disease 9 |
13 |
| 960 |
c
|
CRN173 |
Coronary Heart Disease 8 |
13 |
| 961 |
P
|
MYP124 |
Myopathy, Distal, Infantile-Onset |
13 |
| 962 |
c
|
BCT018 |
Bacterial Myositis |
13 |
| 963 |
c
|
ATS274 |
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease |
13 |
| 964 |
c
|
THY119 |
Thyrotoxic Periodic Paralysis 3 |
12 |
| 965 |
|
LRY014 |
Larynx Leiomyosarcoma |
11 |
| 966 |
c
|
ATS431 |
Autosomal Recessive Distal Myopathy |
10 |
| 967 |
|
GRN012 |
Granular Cell Leiomyosarcoma |
10 |
| 968 |
|
BLD037 |
Bile Duct Rhabdomyosarcoma |
10 |
| 969 |
P
|
HRN027 |
Hernia, Anterior Diaphragmatic |
9 |
| 970 |
c
|
MYP129 |
Myopathy Due to Malate-Aspartate Shuttle Defect |
9 |
| 971 |
|
MDS017 |
Mediastinum Leiomyosarcoma |
9 |
| 972 |
c
|
ATS354 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z |
8 |
| 973 |
c
|
ADL031 |
Adult Botryoid Rhabdomyosarcoma |
7 |
| 974 |
c
|
ATS092 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation |
7 |
| 975 |
c
|
ATS289 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation |
7 |
| 976 |
|
FLL007 |
Fallopian Tube Leiomyosarcoma |
7 |
| 977 |
P
|
VGN013 |
Vagina Botryoid Rhabdomyosarcoma |
7 |
| 978 |
|
OVR023 |
Ovary Rhabdomyosarcoma |
7 |
| 979 |
c
|
ATS363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation |
6 |
| 980 |
|
ANS009 |
Anus Leiomyosarcoma |
5 |
| 981 |
c
|
CHR572 |
Charcot-Marie-Tooth Disease Type 7 |
5 |
| 982 |
c
|
ADL032 |
Adult Vagina Botryoid Rhabdomyosarcoma |
5 |
| 983 |
|
MYP005 |
Myopathy of Extraocular Muscle |
5 |
| 984 |
c
|
RDC017 |
Reducing Body Myopathy 1a |
4 |
| 985 |
|
DST104 |
Distal Muscular Dystrophy Tateyama Type |
3 |
| 986 |
|
GTL001 |
Gitelman Syndrome |
65 |
| 987 |
|
NRP051 |
Neuropathy, Hereditary, with Liability to Pressure Palsies |
54 |
| 988 |
|
SCH068 |
Schwartz-Jampel Syndrome, Type 1 |
52 |
| 989 |
|
MNT303 |
Mental Retardation, X-Linked, Syndromic, Cabezas Type |
37 |
| 990 |
|
ENC047 |
Encephalopathy, Progressive, Early-Onset, with Brain Atrophy and Thin Corpus Callosum |
29 |
| 991 |
|
CMP074 |
Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye |
19 |
| 992 |
|
MYP160 |
Myopathy, Congenital, with Respiratory Insufficiency and Bone Fractures |
18 |
| 993 |
|
CYP001 |
Cyprus Facial Neuromusculoskeletal Syndrome |
12 |
| 994 |
c
|
NRP053 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iia |
67 |
| 995 |
c
|
NRP054 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iii |
66 |
| 996 |
|
MSS001 |
Masa Syndrome |
60 |
| 997 |
P
|
MTC069 |
Mitochondrial Disorders |
57 |
| 998 |
|
CHR070 |
Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
57 |
| 999 |
c
|
ESS001 |
Essential Tremor |
57 |
| 1000 |
c
|
NRP037 |
Neuropathy, Hereditary Sensory and Autonomic, Type V |
55 |
| 1001 |
P
|
TRM003 |
Tremor |
48 |
| 1002 |
c
|
EHL085 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
46 |
| 1003 |
|
LYM009 |
Lymphocytic Choriomeningitis |
46 |
| 1004 |
c
|
NRP031 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vii |
44 |
| 1005 |
c
|
HRD201 |
Hereditary Sensory and Autonomic Neuropathy Type 1 |
43 |
| 1006 |
c
|
NRP044 |
Neuropathy, Hereditary Sensory and Autonomic, Type Viii |
43 |
| 1007 |
c
|
NRP038 |
Neuropathy, Hereditary Sensory and Autonomic, Type Vi |
41 |
| 1008 |
c
|
NRP018 |
Neuropathy, Hereditary Sensory and Autonomic, Type Iib |
39 |
| 1009 |
|
MTC037 |
Mitochondrial Phosphate Carrier Deficiency |
35 |
| 1010 |
c
|
TRM017 |
Tremor, Hereditary Essential, 4 |
33 |
| 1011 |
c
|
TRM022 |
Tremor, Hereditary Essential, 5 |
28 |
| 1012 |
c
|
TRM020 |
Tremor, Hereditary Essential, 2 |
26 |
| 1013 |
c
|
TRM016 |
Tremor, Hereditary Essential, 3 |
21 |
| 1014 |
c
|
TRM029 |
Tremor, Hereditary Essential, 6 |
19 |
| 1015 |
c
|
RRM002 |
Rrm2b-Related Mitochondrial Disease |
15 |
| 1016 |
c
|
MTC199 |
Mitochondrial Disorder Due to a Defect in Mitochondrial Protein Synthesis |
13 |
| 1017 |
|
CMR005 |
Camera-Marugo-Cohen Syndrome |
12 |
| 1018 |
|
SPN397 |
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality |
9 |
| 1019 |
c
|
ISC017 |
Isca2-Related Mitochondrial Disorder |
9 |
| 1020 |
c
|
ATS273 |
Autosomal Recessive Hereditary Sensory and Autonomic Neuropathy |
6 |
| 1021 |
P
|
ATS271 |
Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy |
5 |
| 1022 |
c
|
RRT014 |
Rare Tremor Disorder |
4 |
| 1023 |
c
|
MTC198 |
Mitochondrial Disorder Due to a Defect in Assembly or Maturation of the Respiratory Chain Complexes |
3 |
| 1024 |
P
|
PRK057 |
Parkinson Disease, Late-Onset |
80 |
| 1025 |
|
MSC157 |
Muscular Dystrophy, Duchenne Type |
79 |
| 1026 |
|
OST012 |
Osteoarthritis |
77 |
| 1027 |
|
MSC152 |
Muscular Dystrophy, Becker Type |
69 |
| 1028 |
c
|
RHB024 |
Rhabdomyosarcoma 2 |
67 |
| 1029 |
|
PYR022 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
64 |
| 1030 |
|
MTC114 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes |
62 |
| 1031 |
P
|
EMR001 |
Emery-Dreifuss Muscular Dystrophy |
62 |
| 1032 |
P
|
BTH005 |
Bethlem Myopathy 1 |
62 |
| 1033 |
|
ALV005 |
Alveolar Soft Part Sarcoma |
61 |
| 1034 |
|
AVN001 |
Avian Influenza |
61 |
| 1035 |
P
|
ERL057 |
Early Infantile Epileptic Encephalopathy |
60 |
| 1036 |
c
|
ART144 |
Arthrogryposis, Distal, Type 1a |
60 |
| 1037 |
|
NNK001 |
Nonaka Myopathy |
58 |
| 1038 |
c
|
PRK089 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
58 |
| 1039 |
|
ARG007 |
Argininemia |
58 |
| 1040 |
|
GLT035 |
Glutaric Acidemia I |
57 |
| 1041 |
P
|
ALT001 |
Alternating Hemiplegia of Childhood |
57 |
| 1042 |
|
HNT002 |
Hantavirus Pulmonary Syndrome |
55 |
| 1043 |
P
|
EPS030 |
Episodic Kinesigenic Dyskinesia 1 |
55 |
| 1044 |
|
BRD001 |
Brody Myopathy |
55 |
| 1045 |
|
ACH005 |
Achalasia |
55 |
| 1046 |
P
|
PRN026 |
Porencephaly |
55 |
| 1047 |
c
|
EXS019 |
Exostoses, Multiple, Type I |
54 |
| 1048 |
|
MYM001 |
Myoma |
54 |
| 1049 |
P
|
PRG130 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 |
54 |
| 1050 |
c
|
EMR018 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
54 |
| 1051 |
c
|
MSC047 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 1 |
54 |
| 1052 |
c
|
HYP260 |
Hypophosphatemic Rickets, Autosomal Dominant |
53 |
| 1053 |
|
UNV001 |
Unverricht-Lundborg Syndrome |
53 |
| 1054 |
P
|
EMB005 |
Embryonal Rhabdomyosarcoma |
53 |
| 1055 |
|
OCL008 |
Oculopharyngeal Muscular Dystrophy |
53 |
| 1056 |
|
CNG046 |
Congenital Fiber-Type Disproportion |
53 |
| 1057 |
c
|
PRK086 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
53 |
| 1058 |
P
|
MSC003 |
Muscular Atrophy |
52 |
| 1059 |
c
|
PNT034 |
Pontocerebellar Hypoplasia, Type 2e |
52 |
| 1060 |
P
|
LMB006 |
Limb-Girdle Muscular Dystrophy |
52 |
| 1061 |
|
MYP153 |
Myopathy, Myofibrillar, 9, with Early Respiratory Failure |
51 |
| 1062 |
c
|
ART119 |
Arthrogryposis, Distal, Type 5 |
51 |
| 1063 |
c
|
MYP131 |
Myopathy, Centronuclear, 2 |
51 |
| 1064 |
|
LMY002 |
Leiomyoma |
51 |
| 1065 |
c
|
ATS239 |
Autosomal Recessive Hypophosphatemic Rickets |
50 |
| 1066 |
c
|
PRK093 |
Parkinson Disease 8, Autosomal Dominant |
49 |
| 1067 |
c
|
PRK085 |
Parkinson Disease 1, Autosomal Dominant |
49 |
| 1068 |
c
|
ART120 |
Arthrogryposis, Distal, Type 3 |
49 |
| 1069 |
c
|
HRD173 |
Hereditary Late-Onset Parkinson Disease |
49 |
| 1070 |
P
|
EMR017 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
49 |
| 1071 |
c
|
PRG038 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 |
49 |
| 1072 |
P
|
MYP087 |
Myopathy, Tubular Aggregate, 1 |
49 |
| 1073 |
P
|
HRD001 |
Hereditary Multiple Exostoses |
48 |
| 1074 |
c
|
MYP079 |
Myopathy, Myofibrillar, 5 |
48 |
| 1075 |
c
|
MSC176 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
48 |
| 1076 |
c
|
EHL083 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
47 |
| 1077 |
|
MSC164 |
Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency |
47 |
| 1078 |
c
|
PRG131 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 |
47 |
| 1079 |
|
MYP100 |
Myopathy, X-Linked, with Excessive Autophagy |
47 |
| 1080 |
P
|
MYC033 |
Myoclonus |
47 |
| 1081 |
|
TXC011 |
Toxocariasis |
46 |
| 1082 |
c
|
XLN241 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
46 |
| 1083 |
c
|
PNT036 |
Pontocerebellar Hypoplasia, Type 6 |
46 |
| 1084 |
P
|
PNT019 |
Pontocerebellar Hypoplasia |
46 |
| 1085 |
|
TNS014 |
Tenosynovitis |
46 |
| 1086 |
P
|
BLP003 |
Blepharospasm |
46 |
| 1087 |
|
BRL010 |
Buruli Ulcer |
45 |
| 1088 |
c
|
PRK092 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
45 |
| 1089 |
|
EPL131 |
Epilepsy, Pyridoxine-Dependent |
45 |
| 1090 |
c
|
ATS025 |
Autosomal Dominant Progressive External Ophthalmoplegia |
45 |
| 1091 |
P
|
RPP006 |
Rippling Muscle Disease 2 |
44 |
| 1092 |
c
|
MSC100 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 |
44 |
| 1093 |
c
|
PRG039 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 |
44 |
| 1094 |
c
|
PRK065 |
Parkinson Disease 20, Early-Onset |
44 |
| 1095 |
c
|
CHR408 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
43 |
| 1096 |
P
|
CNT009 |
Central Core Myopathy |
43 |
| 1097 |
c
|
PRK052 |
Parkinson Disease 17 |
43 |
| 1098 |
c
|
PNT049 |
Pontocerebellar Hypoplasia, Type 2d |
43 |
| 1099 |
|
MYP091 |
Myopathy, Congenital, with Fiber-Type Disproportion |
43 |
| 1100 |
c
|
MTC116 |
Mitochondrial Myopathy, Infantile, Transient |
42 |
| 1101 |
c
|
PRK071 |
Parkinson Disease 14, Autosomal Recessive |
42 |
| 1102 |
c
|
MYS068 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
42 |
| 1103 |
c
|
SPS108 |
Spastic Paraplegia 5a, Autosomal Recessive |
42 |
| 1104 |
c
|
PNT039 |
Pontocerebellar Hypoplasia, Type 7 |
41 |
| 1105 |
c
|
PNT043 |
Pontocerebellar Hypoplasia, Type 4 |
41 |
| 1106 |
c
|
PNT044 |
Pontocerebellar Hypoplasia, Type 2a |
41 |
| 1107 |
c
|
ART104 |
Arthrogryposis, Distal, Type 5d |
41 |
| 1108 |
c
|
PNT032 |
Pontocerebellar Hypoplasia, Type 9 |
40 |
| 1109 |
|
PLM030 |
Pleomorphic Rhabdomyosarcoma |
40 |
| 1110 |
c
|
DYS151 |
Dystonia 25 |
40 |
| 1111 |
P
|
HRD086 |
Hereditary Hypophosphatemic Rickets |
40 |
| 1112 |
c
|
MYP080 |
Myopathy, Myofibrillar, 4 |
40 |
| 1113 |
c
|
MYS014 |
Miyoshi Muscular Dystrophy 3 |
40 |
| 1114 |
c
|
CHR522 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
40 |
| 1115 |
c
|
ERL056 |
Early-Onset Parkinson's Disease |
40 |
| 1116 |
c
|
NML010 |
Nemaline Myopathy 7 |
39 |
| 1117 |
c
|
PRK021 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
39 |
| 1118 |
c
|
PNT037 |
Pontocerebellar Hypoplasia, Type 3 |
39 |
| 1119 |
P
|
SPN370 |
Spondylodysplastic Ehlers-Danlos Syndrome |
39 |
| 1120 |
c
|
ALT008 |
Alternating Hemiplegia of Childhood 1 |
39 |
| 1121 |
P
|
FML186 |
Familial Paroxysmal Nonkinesigenic Dyskinesia |
39 |
| 1122 |
|
SMT002 |
Smooth Muscle Tumor |
39 |
| 1123 |
c
|
NML005 |
Nemaline Myopathy 4 |
38 |
| 1124 |
c
|
PRK090 |
Parkinson Disease 3, Autosomal Dominant |
38 |
| 1125 |
c
|
EXS020 |
Exostoses, Multiple, Type Ii |
38 |
| 1126 |
c
|
FML084 |
Familial Porencephaly |
38 |
| 1127 |
c
|
FML272 |
Familial Sick Sinus Syndrome |
37 |
| 1128 |
c
|
CHR505 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
37 |
| 1129 |
c
|
PRK091 |
Parkinson Disease 4, Autosomal Dominant |
37 |
| 1130 |
c
|
BLP048 |
Blepharospasm, Benign Essential |
37 |
| 1131 |
|
MSC190 |
Muscular Disease |
37 |
| 1132 |
|
MYT003 |
Myotonic Disease |
36 |
| 1133 |
c
|
PRK070 |
Parkinson Disease 21 |
36 |
| 1134 |
c
|
DYS067 |
Dystonia 6, Torsion |
36 |
| 1135 |
c
|
ATM022 |
Autoimmune Myocarditis |
36 |
| 1136 |
c
|
MSC045 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 3 |
36 |
| 1137 |
c
|
PNT033 |
Pontocerebellar Hypoplasia, Type 10 |
35 |
| 1138 |
c
|
MYS056 |
Myasthenic Syndrome, Congenital, 17 |
35 |
| 1139 |
c
|
B4G002 |
B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
35 |
| 1140 |
|
RCK002 |
Rocky Mountain Spotted Fever |
34 |
| 1141 |
|
TLS001 |
Tolosa-Hunt Syndrome |
34 |
| 1142 |
c
|
SCK017 |
Sick Sinus Syndrome 1 |
34 |
| 1143 |
c
|
BTH006 |
Bethlem Myopathy 2 |
33 |
| 1144 |
c
|
ART060 |
Arthrogryposis, Distal, Type 1b |
33 |
| 1145 |
c
|
HMF011 |
Hemifacial Spasm, Familial |
33 |
| 1146 |
c
|
CHR641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
33 |
| 1147 |
c
|
PRK025 |
Parkinson Disease 10 |
33 |
| 1148 |
|
RMN001 |
Rumination Disorder |
33 |
| 1149 |
c
|
MSC127 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 |
33 |
| 1150 |
c
|
EHL076 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
33 |
| 1151 |
|
ADN075 |
Adenomyoma |
32 |
| 1152 |
|
MSC142 |
Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability |
32 |
| 1153 |
c
|
PRG106 |
Progressive Muscular Dystrophy |
32 |
| 1154 |
c
|
PNT030 |
Pontocerebellar Hypoplasia, Type 8 |
32 |
| 1155 |
c
|
CHR697 |
Charcot-Marie-Tooth Disease X-Linked Recessive 4 |
31 |
| 1156 |
c
|
XLN110 |
X-Linked Charcot-Marie-Tooth Disease |
31 |
| 1157 |
c
|
CHR642 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
31 |
| 1158 |
c
|
MSC043 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 |
30 |
| 1159 |
|
PRL013 |
Paralytic Poliomyelitis |
30 |
| 1160 |
|
ATR076 |
Atrophic Muscular Disease |
30 |
| 1161 |
c
|
PNT046 |
Pontocerebellar Hypoplasia, Type 5 |
30 |
| 1162 |
c
|
HYP369 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
30 |
| 1163 |
c
|
ATS217 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
29 |
| 1164 |
c
|
ALT007 |
Alternating Hemiplegia of Childhood 2 |
29 |
| 1165 |
c
|
PNT050 |
Pontocerebellar Hypoplasia, Type 11 |
28 |
| 1166 |
|
PRM208 |
Parameningeal Embryonal Rhabdomyosarcoma |
28 |
| 1167 |
c
|
ART131 |
Arthrogryposis, Distal, Type 4 |
28 |
| 1168 |
P
|
NRD034 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant |
28 |
| 1169 |
c
|
HYP788 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
28 |
| 1170 |
|
PLM004 |
Pulmonary Artery Leiomyosarcoma |
28 |
| 1171 |
c
|
ART128 |
Arthrogryposis, Distal, Type 6 |
28 |
| 1172 |
c
|
PRK081 |
Parkinson Disease 19a, Juvenile-Onset |
27 |
| 1173 |
c
|
PNT051 |
Pontocerebellar Hypoplasia, Type 1d |
27 |
| 1174 |
c
|
ACQ029 |
Acquired Porencephaly |
27 |
| 1175 |
c
|
EPS013 |
Episodic Kinesigenic Dyskinesia 2 |
27 |
| 1176 |
c
|
PNT047 |
Pontocerebellar Hypoplasia, Type 2b |
27 |
| 1177 |
|
49X001 |
49, Xxxxx |
27 |
| 1178 |
|
HYD030 |
Hydroxykynureninuria |
27 |
| 1179 |
c
|
PNT035 |
Pontocerebellar Hypoplasia, Type 1c |
27 |
| 1180 |
|
CMP017 |
Camptocormism |
26 |
| 1181 |
c
|
MYS082 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
26 |
| 1182 |
c
|
MSC118 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
26 |
| 1183 |
c
|
PRG041 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 |
26 |
| 1184 |
c
|
CHR674 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b |
26 |
| 1185 |
c
|
PNT053 |
Pontocerebellar Hypoplasia, Type 13 |
26 |
| 1186 |
P
|
PRR032 |
Pura-Related Neurodevelopmental Disorders |
25 |
| 1187 |
c
|
PRK098 |
Parkinson Disease 5, Autosomal Dominant |
25 |
| 1188 |
c
|
MYC089 |
Myoclonus, Familial, 1 |
25 |
| 1189 |
c
|
PRK083 |
Parkinson Disease 22, Autosomal Dominant |
25 |
| 1190 |
c
|
JVN058 |
Juvenile-Onset Parkinson's Disease |
25 |
| 1191 |
c
|
PRK094 |
Parkinson Disease 11, Autosomal Dominant |
25 |
| 1192 |
c
|
PRK100 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
25 |
| 1193 |
c
|
ART102 |
Arterial Calcification, Generalized, of Infancy, 2 |
25 |
| 1194 |
c
|
ART156 |
Arthrogryposis, Distal, Type 2b2 |
25 |
| 1195 |
|
ART164 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, with Myelin Defect |
24 |
| 1196 |
c
|
PRK099 |
Parkinson Disease 18, Autosomal Dominant |
24 |
| 1197 |
P
|
MYP108 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia |
24 |
| 1198 |
c
|
MYP116 |
Myopathy, Distal, 5 |
24 |
| 1199 |
|
MYC001 |
Myoclonic Cerebellar Dyssynergia |
24 |
| 1200 |
|
OGL001 |
Ogilvie Syndrome |
24 |
| 1201 |
c
|
NRD041 |
Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive |
23 |
| 1202 |
c
|
ADL068 |
Adult-Onset Nemaline Myopathy |
23 |
| 1203 |
|
WCK004 |
Wieacker-Wolff Syndrome, Female-Restricted |
22 |
| 1204 |
c
|
PRG134 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 |
22 |
| 1205 |
c
|
PRK096 |
Parkinson Disease 13, Autosomal Dominant |
22 |
| 1206 |
c
|
PNT048 |
Pontocerebellar Hypoplasia, Type 2c |
22 |
| 1207 |
c
|
PRG129 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 |
22 |
| 1208 |
|
MYP150 |
Myopathy, Centronuclear, 6, with Fiber-Type Disproportion |
22 |
| 1209 |
c
|
PNT052 |
Pontocerebellar Hypoplasia, Type 12 |
21 |
| 1210 |
|
PLM003 |
Pulmonary Vein Leiomyosarcoma |
21 |
| 1211 |
c
|
PNT042 |
Pontocerebellar Hypoplasia, Type 2f |
21 |
| 1212 |
c
|
MYP158 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
20 |
| 1213 |
c
|
EXS021 |
Exostoses, Multiple, Type Iii |
20 |
| 1214 |
c
|
MLG149 |
Malignant Hyperthermia 3 |
20 |
| 1215 |
|
MSC029 |
Muscular Dystrophy, Congenital, Merosin-Positive |
19 |
| 1216 |
c
|
ART168 |
Arthrogryposis, Distal, Type 1c |
19 |
| 1217 |
c
|
GRN052 |
Grin2b-Related Neurodevelopmental Disorder |
18 |
| 1218 |
c
|
CHD006 |
Chd2-Related Neurodevelopmental Disorders |
18 |
| 1219 |
c
|
PRK058 |
Parkinson Disease 16 |
18 |
| 1220 |
c
|
PRX024 |
Paroxysmal Nonkinesigenic Dyskinesia 2 |
18 |
| 1221 |
c
|
CV3001 |
Cav3-Related Distal Myopathy |
17 |
| 1222 |
|
MYS010 |
Myostatin-Related Muscle Hypertrophy |
17 |
| 1223 |
|
CNM001 |
Canomad Syndrome |
17 |
| 1224 |
c
|
PRK022 |
Parkinson Disease 12 |
17 |
| 1225 |
|
MSC131 |
Muscular Dystrophy, Congenital, Producing Arthrogryposis |
16 |
| 1226 |
|
CYL003 |
Cylindrical Spirals Myopathy |
16 |
| 1227 |
c
|
MYC090 |
Myoclonus, Familial, 2 |
16 |
| 1228 |
c
|
MYF012 |
Myofibrillar Myopathy 11 |
15 |
| 1229 |
c
|
ART054 |
Arthrogryposis, Distal, Type 2e |
14 |
| 1230 |
c
|
GRN056 |
Grin1-Related Neurodevelopmental Disorder |
13 |
| 1231 |
c
|
VPS003 |
Vps35-Related Parkinson Disease |
12 |
| 1232 |
c
|
DDX004 |
Ddx3x-Related Neurodevelopmental Disorder |
10 |
| 1233 |
|
GLL014 |
Gallbladder Rhabdomyosarcoma |
10 |
| 1234 |
c
|
PPP002 |
Ppp2r5d-Related Neurodevelopmental Disorder |
8 |
| 1235 |
c
|
PRM322 |
Primary Myoclonus |
7 |
| 1236 |
P
|
TTL001 |
Total Internal Ophthalmoplegia |
6 |
| 1237 |
|
EMB001 |
Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma |
6 |
| 1238 |
|
MXD015 |
Mixed Type Rhabdomyosarcoma |
5 |
| 1239 |
c
|
BNG038 |
Benign Autosomal Dominant Myopathy |
5 |
| 1240 |
c
|
RRM008 |
Rare Myoclonus |
5 |
| 1241 |
c
|
RRD027 |
Rare Disease with Malignant Hyperthermia |
4 |
| 1242 |
|
STR082 |
Striated Muscle Rhabdoid Tumor |
4 |
| 1243 |
c
|
ARX003 |
Arx-Related Epileptic Encephalopathy |
4 |
| 1244 |
c
|
ATS473 |
Autosomal Recessive Whistling Face Syndrome |
3 |
| 1245 |
|
RMS003 |
Ramsay Hunt Syndrome I |
3 |
| 1246 |
|
OSS012 |
Osseous Heteroplasia, Progressive |
61 |
| 1247 |
c
|
PRD013 |
Periodic Fever, Familial, Autosomal Dominant |
68 |
| 1248 |
P
|
HRD214 |
Hereditary Periodic Fever Syndrome |
30 |
| 1249 |
P
|
AMY004 |
Amyloidosis |
70 |
| 1250 |
P
|
RHB003 |
Rhabdomyosarcoma |
66 |
| 1251 |
c
|
MSC170 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
66 |
| 1252 |
c
|
DPH024 |
Diaphragmatic Hernia, Congenital |
64 |
| 1253 |
P
|
HYP097 |
Hyperekplexia |
62 |
| 1254 |
c
|
LPD015 |
Lipodystrophy, Familial Partial, Type 2 |
61 |
| 1255 |
|
LNN001 |
Lennox-Gastaut Syndrome |
61 |
| 1256 |
c
|
MSC169 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
61 |
| 1257 |
|
DNT005 |
Dentatorubral-Pallidoluysian Atrophy |
60 |
| 1258 |
c
|
MSC037 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 |
60 |
| 1259 |
P
|
PLY041 |
Polymyositis |
59 |
| 1260 |
c
|
PSR021 |
Psoriasis 14, Pustular |
58 |
| 1261 |
P
|
SPN429 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 |
57 |
| 1262 |
c
|
LSS005 |
Lissencephaly 1 |
57 |
| 1263 |
P
|
URF003 |
Urofacial Syndrome 1 |
56 |
| 1264 |
P
|
MYS005 |
Myositis |
56 |
| 1265 |
c
|
LSS006 |
Lissencephaly 2 |
55 |
| 1266 |
P
|
MYT023 |
Myotonia Congenita |
55 |
| 1267 |
|
MYP159 |
Myopathy, Proximal, with Ophthalmoplegia |
55 |
| 1268 |
c
|
ALM001 |
Al Amyloidosis |
54 |
| 1269 |
|
CNT099 |
Contractural Arachnodactyly, Congenital |
54 |
| 1270 |
P
|
FML012 |
Familial Partial Lipodystrophy |
54 |
| 1271 |
P
|
MYS079 |
Miyoshi Muscular Dystrophy |
54 |
| 1272 |
|
BTT016 |
Batten-Turner Congenital Myopathy |
53 |
| 1273 |
c
|
MYS033 |
Miyoshi Muscular Dystrophy 1 |
52 |
| 1274 |
P
|
D2H002 |
D-2-Hydroxyglutaric Aciduria 1 |
52 |
| 1275 |
|
RDC002 |
Radiculopathy |
52 |
| 1276 |
P
|
LSS002 |
Lissencephaly |
50 |
| 1277 |
c
|
L2H001 |
L-2-Hydroxyglutaric Aciduria |
49 |
| 1278 |
|
MSC072 |
Muscle Cancer |
48 |
| 1279 |
P
|
HRD021 |
Hereditary Sensory Neuropathy |
48 |
| 1280 |
c
|
NRP041 |
Neuropathy, Hereditary Sensory, Type Ie |
48 |
| 1281 |
c
|
AMY009 |
Amyloidosis Aa |
47 |
| 1282 |
c
|
SPN335 |
Spinocerebellar Ataxia Type 1 with Axonal Neuropathy |
47 |
| 1283 |
c
|
MSC108 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
47 |
| 1284 |
c
|
MSC173 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
46 |
| 1285 |
c
|
LPD021 |
Lipodystrophy, Familial Partial, Type 3 |
46 |
| 1286 |
c
|
HRD039 |
Hereditary Amyloidosis |
45 |
| 1287 |
|
LSS001 |
Loiasis |
45 |
| 1288 |
c
|
MSC178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
45 |
| 1289 |
c
|
MYP021 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 |
45 |
| 1290 |
|
MYP056 |
Myopathy, X-Linked, with Postural Muscle Atrophy |
44 |
| 1291 |
c
|
HYP699 |
Hyperekplexia 1 |
44 |
| 1292 |
c
|
NRC009 |
Narcolepsy 1 |
44 |
| 1293 |
c
|
MSC103 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
44 |
| 1294 |
c
|
NRP033 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ia |
43 |
| 1295 |
c
|
LPD019 |
Lipodystrophy, Partial, Acquired |
42 |
| 1296 |
c
|
MSC171 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
42 |
| 1297 |
c
|
MSC177 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
42 |
| 1298 |
c
|
PRG001 |
Progressive Muscular Atrophy |
41 |
| 1299 |
c
|
LPD034 |
Lipodystrophy, Familial Partial, Type 4 |
41 |
| 1300 |
|
MNK002 |
Monkeypox |
41 |
| 1301 |
c
|
EMR015 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
41 |
| 1302 |
c
|
ATS277 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
41 |
| 1303 |
|
HYL005 |
Hyaline Body Myopathy |
41 |
| 1304 |
c
|
MYT029 |
Myotonia Congenita, Autosomal Recessive |
40 |
| 1305 |
c
|
LPD030 |
Lipodystrophy, Familial Partial, Type 5 |
40 |
| 1306 |
c
|
SPN430 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 |
39 |
| 1307 |
c
|
CHR653 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1d |
39 |
| 1308 |
c
|
NRP039 |
Neuropathy, Hereditary Sensory, Type Id |
39 |
| 1309 |
c
|
MSC179 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
38 |
| 1310 |
c
|
2HY001 |
2-Hydroxyglutaric Aciduria |
38 |
| 1311 |
P
|
HMF004 |
Hemifacial Spasm |
38 |
| 1312 |
c
|
LSS010 |
Lissencephaly 4 |
38 |
| 1313 |
c
|
ATS297 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
38 |
| 1314 |
P
|
PST059 |
Pustular Psoriasis |
38 |
| 1315 |
c
|
LSS009 |
Lissencephaly 3 |
38 |
| 1316 |
P
|
INC029 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 |
37 |
| 1317 |
|
DPH007 |
Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma |
37 |
| 1318 |
|
EPL199 |
Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure |
36 |
| 1319 |
c
|
NRP029 |
Neuropathy, Hereditary Sensory, Type Iic |
36 |
| 1320 |
c
|
MSC183 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
35 |
| 1321 |
c
|
NRC010 |
Narcolepsy 2 |
35 |
| 1322 |
c
|
NRP064 |
Neuropathy, Congenital Hypomyelinating, 2 |
35 |
| 1323 |
c
|
SCP012 |
Scapuloperoneal Myopathy, Myh7-Related |
35 |
| 1324 |
c
|
D2H003 |
D-2-Hydroxyglutaric Aciduria 2 |
35 |
| 1325 |
c
|
MYT027 |
Myotonia Congenita, Autosomal Dominant |
34 |
| 1326 |
|
GLY099 |
Glycogen Storage Disease Ixa1 |
34 |
| 1327 |
|
MYP035 |
Myopathy, Distal, with Anterior Tibial Onset |
33 |
| 1328 |
c
|
EMR019 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
33 |
| 1329 |
|
PRG007 |
Progressive Bulbar Palsy |
33 |
| 1330 |
c
|
HYP519 |
Hyperekplexia 3 |
33 |
| 1331 |
P
|
RDC010 |
Reducing Body Myopathy |
33 |
| 1332 |
c
|
INC015 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 |
33 |
| 1333 |
c
|
MYP098 |
Myopathy, Centronuclear, 4 |
33 |
| 1334 |
c
|
LPD036 |
Lipodystrophy, Familial Partial, Type 6 |
33 |
| 1335 |
c
|
MSC048 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
33 |
| 1336 |
c
|
ATS299 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
32 |
| 1337 |
c
|
MSC101 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 |
32 |
| 1338 |
c
|
MSC166 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 |
32 |
| 1339 |
P
|
SCP010 |
Scapuloperoneal Myopathy |
32 |
| 1340 |
c
|
LPD040 |
Lipodystrophy, Familial Partial, Type 1 |
32 |
| 1341 |
|
MLT177 |
Multisystem Proteinopathy |
31 |
| 1342 |
c
|
INC031 |
Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 3 |
31 |
| 1343 |
c
|
ATS280 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
30 |
| 1344 |
c
|
MYP118 |
Myopathy, Myofibrillar, 8 |
30 |
| 1345 |
c
|
NRP036 |
Neuropathy, Hereditary Sensory, Type if |
30 |
| 1346 |
c
|
MSC102 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 |
29 |
| 1347 |
|
SPR108 |
Suprabulbar Paresis, Congenital |
28 |
| 1348 |
c
|
MSC167 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 |
28 |
| 1349 |
c
|
CNG551 |
Congenital Muscular Dystrophy-Dystroglycanopathy A7 |
28 |
| 1350 |
|
SKL003 |
Skeletal Muscle Cancer |
28 |
| 1351 |
c
|
ATS207 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
28 |
| 1352 |
c
|
CNG553 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
28 |
| 1353 |
c
|
CNG441 |
Congenital Muscular Dystrophy Due to Dystroglycanopathy |
28 |
| 1354 |
|
NRD058 |
Neurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and Seizures |
27 |
| 1355 |
c
|
LMB030 |
Limb-Girdle Muscular Dystrophy Type 1c |
27 |
| 1356 |
c
|
MSC034 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 |
27 |
| 1357 |
c
|
MSC107 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 10 |
27 |
| 1358 |
|
MYP099 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
27 |
| 1359 |
c
|
CNG550 |
Congenital Muscular Dystrophy-Dystroglycanopathy A14 |
27 |
| 1360 |
c
|
NRP065 |
Neuropathy, Congenital Hypomyelinating, 3 |
27 |
| 1361 |
c
|
MSC191 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
26 |
| 1362 |
c
|
ART157 |
Arthrogryposis, Distal, Type 2b3 |
25 |
| 1363 |
c
|
HYP510 |
Hyperekplexia 2 |
25 |
| 1364 |
c
|
LPD044 |
Lipodystrophy, Familial Partial, Type 7 |
25 |
| 1365 |
|
SKL002 |
Skeletal Muscle Neoplasm |
25 |
| 1366 |
c
|
SPN432 |
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 |
24 |
| 1367 |
c
|
LSS035 |
Lissencephaly 8 |
24 |
| 1368 |
c
|
ATS432 |
Autosomal Dominant Distal Myopathy |
24 |
| 1369 |
c
|
HYP825 |
Hyperekplexia 4 |
23 |
| 1370 |
c
|
DPH016 |
Diaphragmatic Hernia 3 |
23 |
| 1371 |
c
|
LSS042 |
Lissencephaly 10 |
23 |
| 1372 |
c
|
MLG148 |
Malignant Hyperthermia 2 |
23 |
| 1373 |
c
|
CNG559 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A6 |
23 |
| 1374 |
|
LPD042 |
Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency |
22 |
| 1375 |
c
|
NRC017 |
Narcolepsy 7 |
22 |
| 1376 |
c
|
MYP107 |
Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 |
21 |
| 1377 |
c
|
URF002 |
Urofacial Syndrome 2 |
21 |
| 1378 |
|
ERY030 |
Erythrocyte Lactate Transporter Defect |
20 |
| 1379 |
c
|
PSR022 |
Psoriasis 15, Pustular |
19 |
| 1380 |
c
|
PRM150 |
Primary Localized Amyloidosis |
19 |
| 1381 |
c
|
NRC011 |
Narcolepsy 3 |
17 |
| 1382 |
c
|
JVN046 |
Juvenile Polymyositis |
17 |
| 1383 |
c
|
DPH025 |
Diaphragmatic Hernia 2 |
17 |
| 1384 |
c
|
SPT021 |
Sptlc1-Related Hereditary Sensory Neuropathy |
15 |
| 1385 |
c
|
FML227 |
Familial Partial Lipodystrophy Due to Akt2 Mutations |
15 |
| 1386 |
c
|
NRC012 |
Narcolepsy 4 |
14 |
| 1387 |
c
|
AHM002 |
Ah Amyloidosis |
14 |
| 1388 |
c
|
ADL074 |
Adult-Onset Distal Myopathy Due to Vcp Mutation |
14 |
| 1389 |
c
|
NRC018 |
Narcolepsy 6 |
14 |
| 1390 |
|
ABR010 |
Abri Amyloidosis |
14 |
| 1391 |
c
|
NRC013 |
Narcolepsy 5 |
13 |
| 1392 |
c
|
SPR097 |
Sporadic Hyperekplexia |
12 |
| 1393 |
c
|
KLH005 |
Klhl9-Related Early-Onset Distal Myopathy |
11 |
| 1394 |
|
CNT030 |
Central Nervous System Leiomyosarcoma |
11 |
| 1395 |
c
|
CNG555 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A13 |
9 |
| 1396 |
c
|
CNG549 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A9 |
9 |
| 1397 |
|
EXT021 |
Extrahepatic Bile Duct Leiomyosarcoma |
8 |
| 1398 |
|
CHL030 |
Childhood Botryoid Rhabdomyosarcoma |
8 |
| 1399 |
c
|
RDC018 |
Reducing Body Myopathy 1b |
4 |
| 1400 |
P
|
HNT016 |
Huntington Disease |
73 |
| 1401 |
c
|
SPN225 |
Spondyloarthropathy 1 |
70 |
| 1402 |
|
ODN023 |
Odontochondrodysplasia |
67 |
| 1403 |
P
|
HRS035 |
Hirschsprung Disease 1 |
66 |
| 1404 |
P
|
PTT014 |
Pitt-Hopkins Syndrome |
64 |
| 1405 |
|
WLK001 |
Walker-Warburg Syndrome |
62 |
| 1406 |
|
CYS005 |
Cysticercosis |
60 |
| 1407 |
|
CHL028 |
Childhood Type Dermatomyositis |
59 |
| 1408 |
P
|
LFT003 |
Left Ventricular Noncompaction |
57 |
| 1409 |
P
|
JRV004 |
Jervell and Lange-Nielsen Syndrome 1 |
56 |
| 1410 |
c
|
RGD003 |
Rigid Spine Muscular Dystrophy 1 |
56 |
| 1411 |
|
PTS001 |
Patau Syndrome |
56 |
| 1412 |
|
DYS192 |
Dystonia, Dopa-Responsive |
55 |
| 1413 |
|
ACY005 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of |
55 |
| 1414 |
P
|
SPN052 |
Spondyloarthropathy |
55 |
| 1415 |
c
|
HNT010 |
Huntington Disease-Like 1 |
55 |
| 1416 |
c
|
MYP123 |
Myopathy, Centronuclear, 1 |
52 |
| 1417 |
|
GST037 |
Gastroparesis |
52 |
| 1418 |
|
3MT001 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
52 |
| 1419 |
|
OST011 |
Osteomalacia |
52 |
| 1420 |
c
|
HNT004 |
Huntington Disease-Like 2 |
52 |
| 1421 |
c
|
NML003 |
Nemaline Myopathy 2 |
51 |
| 1422 |
c
|
MSC104 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
50 |
| 1423 |
c
|
PTT029 |
Pitt-Hopkins-Like Syndrome 1 |
50 |
| 1424 |
c
|
SPS117 |
Spastic Paraplegia 10, Autosomal Dominant |
48 |
| 1425 |
c
|
CHR516 |
Charcot-Marie-Tooth Disease, Type 4c |
48 |
| 1426 |
P
|
NML001 |
Nemaline Myopathy |
48 |
| 1427 |
|
PLY024 |
Polymicrogyria |
47 |
| 1428 |
c
|
NML004 |
Nemaline Myopathy 3 |
47 |
| 1429 |
c
|
CHR656 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
46 |
| 1430 |
c
|
CHR421 |
Charcot-Marie-Tooth Disease, Type 4h |
46 |
| 1431 |
c
|
CHR649 |
Charcot-Marie-Tooth Disease, Axonal, Type 2d |
46 |
| 1432 |
c
|
ART155 |
Arthrogryposis, Distal, Type 2b1 |
45 |
| 1433 |
c
|
RHB023 |
Rhabdomyosarcoma, Embryonal, 1 |
45 |
| 1434 |
|
MYC072 |
Myoclonic Epilepsy Associated with Ragged-Red Fibers |
45 |
| 1435 |
c
|
ART147 |
Arthrogryposis, Distal, Type 7 |
45 |
| 1436 |
c
|
LFT021 |
Left Ventricular Noncompaction 1 |
44 |
| 1437 |
|
LRW001 |
Leri-Weill Dyschondrosteosis |
43 |
| 1438 |
c
|
EMR020 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
43 |
| 1439 |
c
|
NRP040 |
Neuropathy, Hereditary Sensory and Autonomic, Type Ic |
42 |
| 1440 |
|
MYP094 |
Myopathy, Spheroid Body |
42 |
| 1441 |
P
|
NRP066 |
Neuropathy, Hereditary Motor and Sensory, Type Via, with Optic Atrophy |
42 |
| 1442 |
c
|
CRT070 |
Cortical Dysplasia, Complex, with Other Brain Malformations 1 |
42 |
| 1443 |
|
TRP009 |
Triple X Syndrome |
41 |
| 1444 |
|
CMB017 |
Combined Oxidative Phosphorylation Deficiency 6 |
41 |
| 1445 |
c
|
PTT030 |
Pitt-Hopkins-Like Syndrome 2 |
41 |
| 1446 |
|
MBD001 |
Mbd5 Haploinsufficiency |
41 |
| 1447 |
c
|
EMR014 |
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
41 |
| 1448 |
c
|
SPS116 |
Spastic Paraplegia 26, Autosomal Recessive |
40 |
| 1449 |
|
CMB040 |
Combined D-2- and L-2-Hydroxyglutaric Aciduria |
40 |
| 1450 |
c
|
ATS331 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
40 |
| 1451 |
c
|
CRT089 |
Cortical Dysplasia, Complex, with Other Brain Malformations 10 |
39 |
| 1452 |
c
|
PTT042 |
Pitt-Hopkins-Like Syndrome |
38 |
| 1453 |
c
|
CHR658 |
Charcot-Marie-Tooth Disease, Recessive Intermediate a |
38 |
| 1454 |
|
GLM012 |
Glomuvenous Malformations |
37 |
| 1455 |
|
ISB001 |
Isobutyryl-Coa Dehydrogenase Deficiency |
36 |
| 1456 |
c
|
HRS036 |
Hirschsprung Disease 2 |
36 |
| 1457 |
c
|
NML025 |
Nemaline Myopathy 8 |
36 |
| 1458 |
|
SCP005 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
34 |
| 1459 |
c
|
HNT011 |
Huntington Disease-Like 3 |
34 |
| 1460 |
c
|
NML021 |
Nemaline Myopathy 9 |
33 |
| 1461 |
P
|
SPS225 |
Spastic Paralysis, Infantile-Onset Ascending |
33 |
| 1462 |
c
|
CRT074 |
Cortical Dysplasia, Complex, with Other Brain Malformations 6 |
32 |
| 1463 |
c
|
CRT067 |
Cortical Dysplasia, Complex, with Other Brain Malformations 2 |
32 |
| 1464 |
|
MLR023 |
Melorheostosis, Isolated |
32 |
| 1465 |
c
|
DYS162 |
Dystonia, Juvenile-Onset |
31 |
| 1466 |
c
|
MYP119 |
Myopathy, Myofibrillar, 7 |
31 |
| 1467 |
c
|
JRV002 |
Jervell and Lange-Nielsen Syndrome 2 |
31 |
| 1468 |
c
|
CRT081 |
Cortical Dysplasia, Complex, with Other Brain Malformations 7 |
31 |
| 1469 |
c
|
NML007 |
Nemaline Myopathy 6 |
30 |
| 1470 |
|
MTC208 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
30 |
| 1471 |
c
|
MSC182 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 |
30 |
| 1472 |
c
|
INF041 |
Infantile-Onset Ascending Hereditary Spastic Paralysis |
30 |
| 1473 |
c
|
SCK014 |
Sick Sinus Syndrome 2 |
29 |
| 1474 |
|
CMB064 |
Combined Oxidative Phosphorylation Deficiency 24 |
29 |
| 1475 |
c
|
SPS039 |
Spastic Paraplegia 5a |
29 |
| 1476 |
c
|
LFT018 |
Left Ventricular Noncompaction 10 |
28 |
| 1477 |
c
|
MYG004 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
28 |
| 1478 |
c
|
NRP067 |
Neuropathy, Hereditary Motor and Sensory, Type Vib, with Optic Atrophy |
28 |
| 1479 |
c
|
MYP112 |
Myopathy, Distal, 3 |
28 |
| 1480 |
c
|
MSC105 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 |
27 |
| 1481 |
c
|
SPS091 |
Spastic Paraplegia 4 |
27 |
| 1482 |
c
|
LFT017 |
Left Ventricular Noncompaction 8 |
27 |
| 1483 |
c
|
CRT082 |
Cortical Dysplasia, Complex, with Other Brain Malformations 8 |
27 |
| 1484 |
c
|
MTC138 |
Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive |
25 |
| 1485 |
|
LBN004 |
Liebenberg Syndrome |
25 |
| 1486 |
c
|
HRS029 |
Hirschsprung Disease 4 |
25 |
| 1487 |
c
|
MSC187 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
25 |
| 1488 |
c
|
CRT068 |
Cortical Dysplasia, Complex, with Other Brain Malformations 3 |
24 |
| 1489 |
c
|
JVN015 |
Juvenile Huntington Disease |
24 |
| 1490 |
c
|
HRS034 |
Hirschsprung Disease 3 |
24 |
| 1491 |
c
|
JVN047 |
Juvenile Spondyloarthropathy |
24 |
| 1492 |
c
|
RHB021 |
Rhabdomyosarcoma, Embryonal, 2 |
24 |
| 1493 |
c
|
CRT073 |
Cortical Dysplasia, Complex, with Other Brain Malformations 5 |
23 |
| 1494 |
c
|
CRT071 |
Cortical Dysplasia, Complex, with Other Brain Malformations 4 |
23 |
| 1495 |
P
|
RGD004 |
Rigid Spine Muscular Dystrophy |
22 |
| 1496 |
c
|
CRT087 |
Cortical Dysplasia, Complex, with Other Brain Malformations 9 |
21 |
| 1497 |
P
|
CMP082 |
Complex Cortical Dysplasia with Other Brain Malformations |
21 |
| 1498 |
c
|
NRP068 |
Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy |
20 |
| 1499 |
c
|
MSC186 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
20 |
| 1500 |
c
|
RPP007 |
Rippling Muscle Disease 1 |
19 |
| 1501 |
c
|
LFT020 |
Left Ventricular Noncompaction 7 |
19 |
| 1502 |
c
|
OCL080 |
Oculopharyngodistal Myopathy 2 |
19 |
| 1503 |
c
|
MLG150 |
Malignant Hyperthermia 4 |
19 |
| 1504 |
c
|
HNT013 |
Huntington Disease-Like Syndrome |
18 |
| 1505 |
c
|
MLG152 |
Malignant Hyperthermia 6 |
18 |
| 1506 |
c
|
LFT011 |
Left Ventricular Noncompaction 2 |
17 |
| 1507 |
c
|
HRS027 |
Hirschsprung Disease 5 |
17 |
| 1508 |
c
|
SPN226 |
Spondyloarthropathy 2 |
15 |
| 1509 |
c
|
HNT014 |
Huntington Disease-Like Syndrome Due to C9orf72 Expansions |
14 |
| 1510 |
c
|
HRS024 |
Hirschsprung Disease 9 |
13 |
| 1511 |
c
|
HRS028 |
Hirschsprung Disease 6 |
13 |
| 1512 |
c
|
HRS026 |
Hirschsprung Disease 7 |
13 |
| 1513 |
c
|
HRS025 |
Hirschsprung Disease 8 |
12 |
| 1514 |
c
|
SPN256 |
Spondyloarthropathy 3 |
11 |
| 1515 |
c
|
CNG552 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
11 |
| 1516 |
c
|
CNG548 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A8 |
9 |
| 1517 |
P
|
DST002 |
Distal Arthrogryposis |
65 |
| 1518 |
|
LRN002 |
Laron Syndrome |
63 |
| 1519 |
P
|
LMY004 |
Leiomyosarcoma |
62 |
| 1520 |
P
|
SPN301 |
Spinocerebellar Ataxia 2 |
59 |
| 1521 |
|
MYP136 |
Myopathy, Centronuclear, X-Linked |
59 |
| 1522 |
c
|
SPN309 |
Spinocerebellar Ataxia 6 |
58 |
| 1523 |
|
INC002 |
Inclusion Body Myositis |
57 |
| 1524 |
|
MSC162 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
55 |
| 1525 |
|
PRP009 |
Peripartum Cardiomyopathy |
55 |
| 1526 |
c
|
SPN101 |
Spinocerebellar Ataxia 29 |
54 |
| 1527 |
c
|
NRD008 |
Neurodegeneration with Brain Iron Accumulation 3 |
54 |
| 1528 |
c
|
SPN291 |
Spinocerebellar Ataxia 7 |
53 |
| 1529 |
|
MYC080 |
Myoclonic Epilepsy of Unverricht and Lundborg |
53 |
| 1530 |
c
|
SPN294 |
Spinocerebellar Ataxia 1 |
53 |
| 1531 |
c
|
SPN207 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
52 |
| 1532 |
|
VRT007 |
Vertical Talus, Congenital |
51 |
| 1533 |
c
|
NML002 |
Nemaline Myopathy 1 |
49 |
| 1534 |
c
|
SPN106 |
Spinocerebellar Ataxia 5 |
49 |
| 1535 |
c
|
SPN311 |
Spinocerebellar Ataxia 13 |
48 |
| 1536 |
c
|
MYP125 |
Myopathy, Distal, 1 |
48 |
| 1537 |
c
|
SPN308 |
Spinocerebellar Ataxia 28 |
48 |
| 1538 |
c
|
GNT049 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
48 |
| 1539 |
c
|
MSC042 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
48 |
| 1540 |
c
|
SPN304 |
Spinocerebellar Ataxia 8 |
47 |
| 1541 |
c
|
MSC175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
47 |
| 1542 |
c
|
SPN314 |
Spinocerebellar Ataxia 10 |
47 |
| 1543 |
c
|
SPN296 |
Spinocerebellar Ataxia 17 |
47 |
| 1544 |
P
|
GNT009 |
Giant Axonal Neuropathy |
46 |
| 1545 |
c
|
SPN325 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
46 |
| 1546 |
c
|
SPN312 |
Spinocerebellar Ataxia 14 |
46 |
| 1547 |
c
|
SPN201 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
45 |
| 1548 |
c
|
SPN293 |
Spinocerebellar Ataxia 12 |
45 |
| 1549 |
c
|
MSC093 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
45 |
| 1550 |
|
PRT052 |
Partington X-Linked Mental Retardation Syndrome |
45 |
| 1551 |
c
|
SPN305 |
Spinocerebellar Ataxia 11 |
45 |
| 1552 |
c
|
MSC172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
44 |
| 1553 |
c
|
SPN261 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
43 |
| 1554 |
c
|
MSC174 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
42 |
| 1555 |
|
MYP093 |
Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset |
42 |
| 1556 |
c
|
SPN273 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
42 |
| 1557 |
c
|
SPN265 |
Spinocerebellar Ataxia 36 |
42 |
| 1558 |
c
|
SPN214 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
42 |
| 1559 |
c
|
SPN100 |
Spinocerebellar Ataxia 27 |
41 |
| 1560 |
c
|
NML006 |
Nemaline Myopathy 5 |
41 |
| 1561 |
P
|
FRS004 |
Free Sialic Acid Storage Disorders |
41 |
| 1562 |
c
|
SPN290 |
Spinocerebellar Ataxia 15 |
41 |
| 1563 |
c
|
SPN104 |
Spinocerebellar Ataxia 34 |
40 |
| 1564 |
c
|
SPN097 |
Spinocerebellar Ataxia 23 |
40 |
| 1565 |
c
|
SPN096 |
Spinocerebellar Ataxia 21 |
40 |
| 1566 |
c
|
SPN284 |
Spinocerebellar Ataxia 38 |
40 |
| 1567 |
c
|
SPN288 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
40 |
| 1568 |
c
|
MYP082 |
Myopathy, Myofibrillar, 2 |
40 |
| 1569 |
c
|
SPN266 |
Spinocerebellar Ataxia 35 |
40 |
| 1570 |
c
|
MSC111 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 |
39 |
| 1571 |
c
|
MSC098 |
Muscular Dystrophy-Dystroglycanopathy , Type C, 14 |
39 |
| 1572 |
c
|
SPN103 |
Spinocerebellar Ataxia 31 |
38 |
| 1573 |
c
|
SPN105 |
Spinocerebellar Ataxia 4 |
38 |
| 1574 |
c
|
SPN381 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
38 |
| 1575 |
c
|
SPN258 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
38 |
| 1576 |
c
|
SPN295 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
37 |
| 1577 |
c
|
NML022 |
Nemaline Myopathy 10 |
37 |
| 1578 |
c
|
SPN247 |
Spinocerebellar Ataxia Type 19/22 |
37 |
| 1579 |
c
|
SPN264 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
36 |
| 1580 |
c
|
MSC181 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 |
36 |
| 1581 |
c
|
SPN419 |
Spinocerebellar Ataxia 45 |
36 |
| 1582 |
P
|
BTR001 |
Botryoid Rhabdomyosarcoma |
36 |
| 1583 |
c
|
SPN283 |
Spinocerebellar Ataxia 37 |
36 |
| 1584 |
c
|
SPN377 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
35 |
| 1585 |
c
|
CHR678 |
Charcot-Marie-Tooth Disease, Axonal, Type 2dd |
34 |
| 1586 |
c
|
MSC184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
34 |
| 1587 |
c
|
SPN102 |
Spinocerebellar Ataxia 30 |
33 |
| 1588 |
c
|
SPN200 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
33 |
| 1589 |
c
|
SPN299 |
Spinocerebellar Ataxia 20 |
33 |
| 1590 |
c
|
ATS246 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
33 |
| 1591 |
c
|
MYP148 |
Myopathy, Centronuclear, 5 |
33 |
| 1592 |
c
|
SPN376 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
33 |
| 1593 |
c
|
NML024 |
Nemaline Myopathy 11, Autosomal Recessive |
33 |
| 1594 |
c
|
SPN095 |
Spinocerebellar Ataxia 19 |
33 |
| 1595 |
|
HML042 |
Hemolytic Anemia, Cd59-Mediated, with or Without Immune-Mediated Polyneuropathy |
33 |
| 1596 |
c
|
SPN383 |
Spinocerebellar Ataxia 42 |
33 |
| 1597 |
c
|
SPN099 |
Spinocerebellar Ataxia 26 |
32 |
| 1598 |
c
|
ATS279 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
32 |
| 1599 |
c
|
SPN094 |
Spinocerebellar Ataxia 18 |
32 |
| 1600 |
c
|
SPN292 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
31 |
| 1601 |
c
|
ATS330 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy |
31 |
| 1602 |
|
SML014 |
Small Intestine Leiomyosarcoma |
31 |
| 1603 |
|
HYP719 |
Hyperglycinemia, Lactic Acidosis, and Seizures |
30 |
| 1604 |
c
|
SPN427 |
Spinocerebellar Ataxia 48 |
30 |
| 1605 |
c
|
SPN286 |
Spinocerebellar Ataxia 40 |
29 |
| 1606 |
c
|
SPN272 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
29 |
| 1607 |
c
|
PRG128 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 |
29 |
| 1608 |
c
|
SPN298 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
29 |
| 1609 |
c
|
SPN098 |
Spinocerebellar Ataxia 25 |
28 |
| 1610 |
c
|
SPN313 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
27 |
| 1611 |
c
|
SPN431 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
27 |
| 1612 |
c
|
MLG151 |
Malignant Hyperthermia 5 |
27 |
| 1613 |
c
|
SPN421 |
Spinocerebellar Ataxia 47 |
27 |
| 1614 |
c
|
SPN420 |
Spinocerebellar Ataxia 46 |
27 |
| 1615 |
c
|
MSC097 |
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 |
27 |
| 1616 |
c
|
SPN418 |
Spinocerebellar Ataxia 44 |
26 |
| 1617 |
c
|
MSC099 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 |
26 |
| 1618 |
c
|
SPN372 |
Spinocerebellar Ataxia 43 |
26 |
| 1619 |
c
|
GNT040 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
25 |
| 1620 |
c
|
CNG547 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11 |
24 |
| 1621 |
c
|
SPN254 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
24 |
| 1622 |
c
|
CHR676 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
24 |
| 1623 |
c
|
GNT045 |
Giant Axonal Neuropathy 2 |
24 |
| 1624 |
c
|
CNG554 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
24 |
| 1625 |
c
|
SPN323 |
Spinocerebellar Ataxia 41 |
23 |
| 1626 |
c
|
SPN384 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
23 |
| 1627 |
|
CMB072 |
Combined Oxidative Phosphorylation Deficiency 28 |
23 |
| 1628 |
c
|
SPN440 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
22 |
| 1629 |
c
|
SPN378 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
21 |
| 1630 |
c
|
ATS211 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
21 |
| 1631 |
c
|
SPN375 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
21 |
| 1632 |
c
|
SPN111 |
Spinocerebellar Ataxia Autosomal Recessive 5 |
20 |
| 1633 |
c
|
ATS333 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
20 |
| 1634 |
c
|
MSC199 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
19 |
| 1635 |
c
|
SPN259 |
Spinocerebellar Ataxia 32 |
19 |
| 1636 |
c
|
ATS332 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w |
16 |
| 1637 |
c
|
INF047 |
Infantile Free Sialic Acid Storage Disease |
16 |
| 1638 |
c
|
SPN107 |
Spinocerebellar Ataxia 9 |
15 |
| 1639 |
c
|
PMG002 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
14 |
| 1640 |
|
CHL031 |
Childhood Vagina Botryoid Rhabdomyosarcoma |
7 |
| 1641 |
c
|
GRD008 |
Grid2-Related Spinocerebellar Ataxia |
6 |
| 1642 |
P
|
SYS005 |
Systemic Scleroderma |
74 |
| 1643 |
c
|
CNG411 |
Congenital Disorder of Glycosylation, Type in |
67 |
| 1644 |
P
|
MSC005 |
Muscular Dystrophy |
67 |
| 1645 |
P
|
PLZ001 |
Pelizaeus-Merzbacher Disease |
65 |
| 1646 |
c
|
CRB172 |
Cerebral Amyloid Angiopathy, Cst3-Related |
65 |
| 1647 |
c
|
LCL006 |
Localized Scleroderma |
65 |
| 1648 |
|
KRN002 |
Kearns-Sayre Syndrome |
63 |
| 1649 |
c
|
SCL052 |
Scleroderma, Familial Progressive |
61 |
| 1650 |
P
|
PRM030 |
Permanent Neonatal Diabetes Mellitus |
59 |
| 1651 |
c
|
CNG415 |
Congenital Disorder of Glycosylation, Type Ia |
59 |
| 1652 |
P
|
ULL002 |
Ullrich Congenital Muscular Dystrophy 1 |
57 |
| 1653 |
c
|
CRB193 |
Cerebral Amyloid Angiopathy, App-Related |
55 |
| 1654 |
|
STR081 |
Stormorken Syndrome |
55 |
| 1655 |
c
|
SPS147 |
Spastic Paraplegia 4, Autosomal Dominant |
55 |
| 1656 |
P
|
HMP007 |
Hemophilia |
52 |
| 1657 |
c
|
CNG206 |
Congenital Disorder of Glycosylation, Type Ie |
51 |
| 1658 |
c
|
CNG191 |
Congenital Disorder of Glycosylation, Type Iia |
50 |
| 1659 |
c
|
CNG389 |
Congenital Disorder of Glycosylation, Type Iim |
49 |
| 1660 |
c
|
CNG203 |
Congenital Disorder of Glycosylation, Type Iii |
49 |
| 1661 |
c
|
CNG194 |
Congenital Disorder of Glycosylation, Type Ig |
47 |
| 1662 |
|
CMB026 |
Combined Oxidative Phosphorylation Deficiency 12 |
47 |
| 1663 |
c
|
CNG208 |
Congenital Disorder of Glycosylation, Type Iic |
47 |
| 1664 |
c
|
PNT018 |
Pontocerebellar Hypoplasia, Type 1b |
46 |
| 1665 |
c
|
MLG147 |
Malignant Hyperthermia 1 |
45 |
| 1666 |
c
|
CHR504 |
Charcot-Marie-Tooth Disease, Type 4b3 |
45 |
| 1667 |
c
|
DBT104 |
Diabetes Mellitus, Permanent Neonatal, 1 |
45 |
| 1668 |
c
|
CNG193 |
Congenital Disorder of Glycosylation, Type Ip |
45 |
| 1669 |
c
|
CNG204 |
Congenital Disorder of Glycosylation, Type Iih |
45 |
| 1670 |
|
SGW002 |
Segawa Syndrome, Autosomal Recessive |
44 |
| 1671 |
c
|
CNG190 |
Congenital Disorder of Glycosylation, Type Iib |
44 |
| 1672 |
c
|
CNG199 |
Congenital Disorder of Glycosylation, Type Im |
44 |
| 1673 |
c
|
CNG414 |
Congenital Disorder of Glycosylation, Type Iil |
44 |
| 1674 |
c
|
CNG383 |
Congenital Disorder of Glycosylation, Type Iik |
44 |
| 1675 |
c
|
CRB176 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
43 |
| 1676 |
c
|
CNG201 |
Congenital Disorder of Glycosylation, Type Iij |
43 |
| 1677 |
c
|
CNG185 |
Congenital Disorder of Glycosylation, Type Iig |
43 |
| 1678 |
c
|
CNG209 |
Congenital Disorder of Glycosylation, Type Iif |
43 |
| 1679 |
c
|
CNG197 |
Congenital Disorder of Glycosylation, Type Ih |
41 |
| 1680 |
c
|
CRB174 |
Cerebral Amyloid Angiopathy, Itm2b-Related, 2 |
40 |
| 1681 |
c
|
CNG198 |
Congenital Disorder of Glycosylation, Type Il |
40 |
| 1682 |
c
|
CNG498 |
Congenital Disorder of Glycosylation, Type Iin |
40 |
| 1683 |
|
DSM002 |
Desmosterolosis |
39 |
| 1684 |
c
|
CNG379 |
Congenital Disorder of Glycosylation, Type It |
39 |
| 1685 |
c
|
CNG189 |
Congenital Disorder of Glycosylation, Type Ib |
39 |
| 1686 |
c
|
CNG497 |
Congenital Disorder of Glycosylation, Type Iio |
38 |
| 1687 |
c
|
CNG187 |
Congenital Disorder of Glycosylation, Type Iid |
38 |
| 1688 |
c
|
CNG196 |
Congenital Disorder of Glycosylation, Type Ic |
38 |
| 1689 |
c
|
CNG195 |
Congenital Disorder of Glycosylation, Type Id |
37 |
| 1690 |
c
|
CNG504 |
Congenital Disorder of Glycosylation, Type Iip |
37 |
| 1691 |
|
MYP086 |
Myopathy with Extrapyramidal Signs |
37 |
| 1692 |
c
|
PLZ002 |
Pelizaeus-Merzbacher-Like Disease |
37 |
| 1693 |
c
|
CNG200 |
Congenital Disorder of Glycosylation, Type Iq |
36 |
| 1694 |
c
|
CNG188 |
Congenital Disorder of Glycosylation, Type if |
35 |
| 1695 |
P
|
MSC002 |
Muscular Dystrophy-Dystroglycanopathy |
35 |
| 1696 |
c
|
MSC050 |
Muscular Dystrophy, Congenital, 1b |
35 |
| 1697 |
c
|
CNG386 |
Congenital Disorder of Glycosylation, Type Iu |
35 |
| 1698 |
c
|
CNG205 |
Congenital Disorder of Glycosylation, Type Ij |
34 |
| 1699 |
c
|
PRG103 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 |
34 |
| 1700 |
c
|
ART112 |
Arthrogryposis, Distal, Type 10 |
34 |
| 1701 |
c
|
CNG192 |
Congenital Disorder of Glycosylation, Type Ik |
34 |
| 1702 |
c
|
CNG557 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
32 |
| 1703 |
c
|
SPS203 |
Spastic Paraplegia 78, Autosomal Recessive |
32 |
| 1704 |
c
|
MYG007 |
Myoglobinuria, Recurrent |
31 |
| 1705 |
c
|
CNG403 |
Congenital Disorder of Glycosylation, Type Ix |
31 |
| 1706 |
c
|
CNG416 |
Congenital Disorder of Glycosylation, Type Iy |
31 |
| 1707 |
c
|
MSC189 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
30 |
| 1708 |
c
|
MSC044 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 2 |
30 |
| 1709 |
P
|
HRD084 |
Hereditary Cerebral Amyloid Angiopathy |
30 |
| 1710 |
c
|
DBT107 |
Diabetes Mellitus, Permanent Neonatal, 4 |
29 |
| 1711 |
c
|
CNG378 |
Congenital Disorder of Glycosylation, Type Ir |
27 |
| 1712 |
c
|
MSC046 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 |
27 |
| 1713 |
c
|
DBT105 |
Diabetes Mellitus, Permanent Neonatal, 2 |
27 |
| 1714 |
c
|
CNG388 |
Congenital Disorder of Glycosylation, Type Iw |
27 |
| 1715 |
c
|
CNG496 |
Congenital Disorder of Glycosylation, Type Iiq |
27 |
| 1716 |
c
|
CHR480 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
27 |
| 1717 |
c
|
CNG558 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
27 |
| 1718 |
c
|
CHR683 |
Charcot-Marie-Tooth Disease, Axonal, Type 2ee |
25 |
| 1719 |
c
|
CNG617 |
Congenital Disorder of Glycosylation, Type Iit |
25 |
| 1720 |
c
|
DBT106 |
Diabetes Mellitus, Permanent Neonatal, 3 |
24 |
| 1721 |
c
|
CNG615 |
Congenital Disorder of Glycosylation, Type Iir |
23 |
| 1722 |
c
|
CNG507 |
Congenital Disorder of Glycosylation, Type I/iix |
21 |
| 1723 |
c
|
MSC200 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 15 |
18 |
| 1724 |
P
|
DSR041 |
Disorder of Multiple Glycosylation |
6 |
| 1725 |
c
|
MYT021 |
Myotonic Dystrophy 1 |
68 |
| 1726 |
c
|
SPS153 |
Spastic Paraplegia 35, Autosomal Recessive |
50 |
| 1727 |
c
|
SPS148 |
Spastic Paraplegia 31, Autosomal Dominant |
47 |
| 1728 |
|
MTC026 |
Mitochondrial Myopathy with Lactic Acidosis |
31 |
| 1729 |
|
SCH018 |
Schizencephaly |
52 |
| 1730 |
c
|
MSC035 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
47 |
| 1731 |
c
|
PRG102 |
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 |
29 |
| 1732 |
c
|
CNG556 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10 |
17 |
| 1733 |
P
|
MYT002 |
Myotonic Dystrophy |
51 |
| 1734 |
c
|
CNG546 |
Congenital Muscular Dystrophy-Dystroglycanopathy Type a |
31 |
| 1735 |
c
|
MTC139 |
Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant |
22 |
| 1736 |
c
|
MSC038 |
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 |
21 |
