Disease phenotype | OMIM | Gene symbol (chromosome) protein | |
| 1 | Absence of pain, Congenital (14.126) | ||
| 2 | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.54, 7.10, 13.48) | ||
| 3 | Acyl-CoA dehydrogenase (very long chain) deficiency (9.28) | ||
| 4 | Adult onset distal myopathy ( | ||
| 5 | Agenesis of the corpus callosum with peripheral neuropathy (14.132) | ||
| 6 | Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.86) | ||
| 7 | Amyotrophic lateral sclerosis (12.57) | ? - (18q21)   | |
| 8 | Amyotrophic lateral sclerosis (12.62, 12.44) | ||
| 9 | Amyotrophic lateral sclerosis (12.61) | ? - (20p13) | |
| 10 | Amyotrophic lateral sclerosis (12.60) | ||
| 11 | Amyotrophic lateral sclerosis (12.90) | ||
| 12 | Amyotrophic lateral sclerosis (14.108, 12.81) | ||
| 13 | Amyotrophic lateral sclerosis 1 (12.54, 12.55, 12.49, 14.82) | ||
| 14 | amyotrophic lateral sclerosis 10 (12.64, 4.29) | ||
| 15 | Amyotrophic lateral sclerosis 11 (14.34, 12.65) | ||
| 16 | Amyotrophic lateral sclerosis 12 (12.66) | ||
| 17 | Amyotrophic lateral sclerosis 13 (13.2, 12.67) | ||
| 18 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.37, 4.22, 12.68, 1.57, 14.67) | ||
| 19 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.69) | ||
| 20 | Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.70) | ||
| 21 | Amyotrophic lateral sclerosis 17 (12.71) | ||
| 22 | Amyotrophic lateral sclerosis 18 (12.72) | ||
| 23 | Amyotrophic lateral sclerosis 19 (12.73) | ||
| 24 | Amyotrophic lateral sclerosis 20 (4.7, 12.74, 3.34) | ||
| 25 | Amyotrophic lateral sclerosis 22 (12.76, 3.60) | ||
| 26 | Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.74, 12.79, 1.23) | ||
| 27 | Amyotrophic lateral sclerosis 28 (5.22, 12.82) | ||
| 28 | Amyotrophic lateral sclerosis 5 (15.30, 12.59, 14.96) | ||
| 29 | amyotrophic lateral sclerosis 9 (12.63) | ||
| 30 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.45, 12.87, 16.24) | ||
| 31 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.86, 12.118) | ||
| 32 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.88, 4.23, 4.15) | ||
| 33 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.89) | ||
| 34 | Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.54, 12.55, 12.49, 14.82) | ||
| 35 | Amyotrophic lateral sclerosis, juvenile (12.56, 15.87) | ||
| 36 | Amyotrophic lateral sclerosis, susceptibility to, 24 (12.78) | ||
| 37 | Amytrophic lateral sclerosis 23 (12.77, 12.114) | ||
| 38 | Andermann syndrome (14.132) | ||
| 39 | Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.152, 10.148) | ||
| 40 | Andersen-Tawill syndrome cardiodysrythmic periodic paralysis (10.155, 10.166, 10.142) | ||
| 41 | Arrhythmogenic right ventricular cardiomyopathy 2 (10.116, 10.128) | ||
| 42 | Arrhythmogenic right ventricular cardiomyopathy 3 (10.117) | ? - (14q12-q22) | |
| 43 | Arrhythmogenic right ventricular cardiomyopathy 4 (10.118) | ? - (2q32.1-q32.3) | |
| 44 | Arrhythmogenic right ventricular cardiomyopathy 6 (10.120, 3.38) | ||
| 45 | Arrhythmogenic right ventricular dysplasia 2 (10.116, 10.128) | ||
| 46 | Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 47 | Arrhythmogenic right ventricular dysplasia-3 (10.117) | ? - (14q12-q22) | |
| 48 | Arrhythmogenic right ventricular dysplasia, 1 (10.115) | ||
| 49 | Arrhythmogenic right ventricular dysplasia, 10 (10.123, 10.65) | ||
| 50 | Arrhythmogenic right ventricular dysplasia, 11 (10.124) | ||
| 51 | Arrhythmogenic right ventricular dysplasia, 8 (10.121) | ||
| 52 | Arrhythmogenic right ventricular dysplasia, 9 (10.122) | ||
| 53 | Arrhythmogenic right ventricular dysplasia, familial, 1 (10.115) | ||
| 54 | arrhythmogenic right ventricular dysplasia, familial, 12 (10.134, 10.125) | ||
| 55 | Arrhythmogenic right ventricular dysplasia, familial, 13 (10.126) | ||
| 56 | Arrhythmogenic right ventricular dysplasia, familial, 14 (10.127) | ||
| 57 | Arrhythmogenic right ventricular dysplasia, familial, 4 (10.118) | ? - (2q32.1-q32.3) | |
| 58 | arrhythmogenic right ventricular dysplasia, familial, 5 (10.119, 1.8) | ||
| 59 | Arrhythmogenic right ventricular dysplasia, familial, 6 (10.120, 3.38) | ||
| 60 | arrhythmogenic right ventricular dysplasia, familial, 7 ( | ? - (10q22) | |
| 61 | Arthrogryposis and BICD2-related neuromuscular disease (12.42, 12.43, 17.24) | ||
| 62 | Arthrogryposis multiplex congenita 7, X-linked (17.26) | ||
| 63 | Arthrogryposis multiplex congenita with nesprin-1 defect (1.5, 13.68, 17.23, 10.92) | ||
| 64 | Arthrogryposis related to ASCC1 (12.17, 17.25) | ||
| 65 | Arthrogryposis, distal type 11 (17.21) | ||
| 66 | Arthrogryposis, distal type 12 (17.22) | ||
| 67 | Arthrogryposis, distal, type 1B (17.10, 12.94, 3.50) | ||
| 68 | Arthrogryposis, distal, type 3 (17.16, 17.17) | ||
| 69 | Arthrogryposis, distal, type 5 (17.16, 17.17) | ||
| 70 | Arthrogryposis, distal, type 10 (17.20) | ? - (2q31.3-q32.1 ) | |
| 71 | Arthrogryposis, distal, type 1A (3.6, 17.9, 17.15) | ||
| 72 | Arthrogryposis, distal, type 2A (17.11, 17.14) | ||
| 73 | arthrogryposis, distal, type 2B (3.6, 17.9, 17.15) | ||
| 74 | Arthrogryposis, distal, type 2B (17.12) | ||
| 75 | Arthrogryposis, distal, type 2B (17.13, 3.15) | ||
| 76 | Arthrogryposis, distal, type 2B (17.11, 17.14) | ||
| 77 | Arthrogryposis, distal, type 5D (17.18) | ||
| 78 | ASCC3-related myopathy (5.48) | ||
| 79 | Asymmetric septal hypertrophy (10.55, 10.10, 10.107) | ||
| 80 | ataxia telangiectasia (13.99) | ||
| 81 | ataxia telangiectasia-like disorder (13.100) | ||
| 82 | Ataxia telangiectasia-like disorder 2 (13.101) | ||
| 83 | Ataxia with isolated vitamin E deficiency (13.59) | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)     | |
| 84 | Ataxia-pancytopenia syndrome (13.56, 13.45) | ||
| 85 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.61) | ||
| 86 | Ataxia, Friedreich-like, with selective vitamin E deficiency (13.59) | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) | |
| 87 | Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.125) | ||
| 88 | ataxia, spastic, 1, autosomal dominant (15.94, 11.33) | ||
| 89 | ataxia, spastic, 2, autosomal recessive (15.95) | ||
| 90 | ATFB18 (10.175) | ||
| 91 | atrial fibillation, familial, 8 (10.165) | ? - (16q22) | |
| 92 | Atrial fibrillation , 12 (10.52, 10.169, 5.47) | ||
| 93 | Atrial fibrillation, 1 (10.158) | ? - (10q22-q24) | |
| 94 | Atrial fibrillation, 10 (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 95 | Atrial fibrillation, 13 (10.181, 10.170) | ||
| 96 | Atrial fibrillation, 14 (10.171) | ||
| 97 | Atrial fibrillation, 15 (10.172) | ||
| 98 | Atrial fibrillation, 16 (10.183, 10.173) | ||
| 99 | Atrial fibrillation, 17 (10.145, 10.174) | ||
| 100 | Atrial fibrillation, 2 (10.159) | ? - (10q22-q24) | |
| 101 | Atrial fibrillation, 3 (10.156, 10.136, 10.160, 10.154) | ||
| 102 | Atrial fibrillation, 4 (10.141, 10.161) | ||
| 103 | Atrial fibrillation, 9 (10.155, 10.166, 10.142) | ||
| 104 | atrial fibrillation, familial (10.164) | ||
| 105 | atrial fibrillation, familial, 1 (10.168, 10.176) | ||
| 106 | atrial fibrillation, familial, 5 (10.162) | ? - (4q25) | |
| 107 | atrial fibrillation, familial, 6 (10.163) | ||
| 108 | Autophagic vacuolar myopathy (5.19) | ||
| 109 | Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 110 | Autosomal recessive CMT axonal type 2S (12.5, 14.94) | ||
| 111 | Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.87) | ||
| 112 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.99, 13.102, 14.100) | ||
| 113 | autosomal recessive spastic ataxia with leukoencephalopathy (15.96) | ||
| 114 | Autosomal recessive spinocerebellar ataxia, 2 (13.62) | ||
| 115 | Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.69, 17.56) | ||
| 116 | Axonal neuropathy intermediate recessive C (12.8, 14.91) | ||
| 117 | Axonal neuropathy recessive (14.90) | ||
| 118 | Barth syndrome (10.90, 10.103) | ||
| 119 | Becker muscular distrophy (1.1, 10.91) | ||
| 120 | Bethlem myopathy (2.8, 2.4) | ||
| 121 | Bethlem myopathy (2.2, 2.6) | ||
| 122 | Bethlem myopathy (2.5, 2.4, 2.7, 2.12, 2.3) | ||
| 123 | Bethlem myopathy 2 (2.9, 2.10, 2.11) | ||
| 124 | Brody disease (6.9) | ||
| 125 | Brown-Vialetto-Van Laere syndrome 1 (12.106) | ||
| 126 | Brown-Vialetto-Van Laere syndrome 2 (12.107) | ||
| 127 | Brugada syndrome (10.186) | ||
| 128 | Brugada syndrome 1 (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 129 | brugada syndrome 2 (10.178) | ||
| 130 | brugada syndrome 3 (10.143, 10.179) | ||
| 131 | brugada syndrome 4 ( | ||
| 132 | Brugada syndrome 5 (10.181, 10.170) | ||
| 133 | Brugada syndrome 6 (7.11, 10.182) | ||
| 134 | Brugada syndrome 7 (10.183, 10.173) | ||
| 135 | Brugada syndrome 8 (10.188, 10.184) | ||
| 136 | Brugada syndrome 9 (13.17, 10.185) | ||
| 137 | Cardiac and skeletal aggregate myopathy (5.14) | ||
| 138 | Cardiac and skeletal aggregate myopathy (5.14) | ||
| 139 | Cardiac arrhythmia syndrome, with or without skeletal muscle weakness (10.132) | ||
| 140 | Cardiac conduction defect, progressive (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 141 | cardiac valvular dysplasia, x-linked (10.114) | ||
| 142 | Cardimyopathy, dilated, 1A (10.4, 17.37, 10.76, 10.113) | ||
| 143 | Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | ||
| 144 | cardiomyopathy, dilated 1C (5.5, 10.41, 4.19, 10.26, 10.106) | ||
| 145 | Cardiomyopathy, dilated, 1A (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 146 | Cardiomyopathy, dilated, 1CC (10.66, 10.21) | ||
| 147 | Cardiomyopathy, dilated, 1D (10.2, 10.42, 10.98, 10.109) | ||
| 148 | Cardiomyopathy, dilated, 1DD (10.67) | ||
| 149 | Cardiomyopathy, dilated, 1E (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 150 | Cardiomyopathy, dilated, 1EE (10.1, 10.68, 10.13, 10.189) | ||
| 151 | Cardiomyopathy, dilated, 1FF (10.6, 10.96, 10.81, 10.69) | ||
| 152 | Cardiomyopathy, dilated, 1G (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 153 | Cardiomyopathy, dilated, 1GG (10.70) | ||
| 154 | Cardiomyopathy, dilated, 1H (10.45) | ? - (2q14-q22) | |
| 155 | Cardiomyopathy, dilated, 1J (10.47) | ||
| 156 | Cardiomyopathy, dilated, 1K (10.48) | ? - (6q12-q16) | |
| 157 | Cardiomyopathy, dilated, 1M (10.50, 10.11) | ||
| 158 | Cardiomyopathy, dilated, 1O (10.52, 10.169, 5.47) | ||
| 159 | Cardiomyopathy, dilated, 1P (10.53, 10.19) | ||
| 160 | Cardiomyopathy, dilated, 1Q (10.54) | ? - (7q22.3-q31.1) | |
| 161 | Cardiomyopathy, dilated, 1R (10.55, 10.10, 10.107) | ||
| 162 | Cardiomyopathy, dilated, 1S (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 163 | Cardiomyopathy, dilated, 1T (10.57) | ||
| 164 | Cardiomyopathy, dilated, 1U (10.58) | ||
| 165 | Cardiomyopathy, dilated, 1W (10.59) | ||
| 166 | Cardiomyopathy, dilated, 1W (10.14, 10.60) | ||
| 167 | Cardiomyopathy, dilated, 1X (2.36, 2.22, 10.61) | ||
| 168 | Cardiomyopathy, dilated, 1Y (10.3, 10.62, 10.112) | ||
| 169 | Cardiomyopathy, dilated, 1Z (10.12, 10.63) | ||
| 170 | Cardiomyopathy, dilated, 2B (10.82) | ||
| 171 | Cardiomyopathy, Dilated, 3B (1.1, 10.91) | ||
| 172 | Cardiomyopathy, dilated, X-linked (1.1, 10.91) | ||
| 173 | Cardiomyopathy, familial dilated, 1 (10.40) | ? - (9q13) | |
| 174 | cardiomyopathy, familial hypertrophic (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 175 | cardiomyopathy, familial hypertrophic (10.15) | ||
| 176 | Cardiomyopathy, familial hypertrophic (10.6, 10.96, 10.81, 10.69) | ||
| 177 | Cardiomyopathy, familial hypertrophic 1 (10.1, 10.68, 10.13, 10.189) | ||
| 178 | Cardiomyopathy, familial hypertrophic 20 (10.66, 10.21) | ||
| 179 | Cardiomyopathy, familial hypertrophic 27 (10.29) | ||
| 180 | cardiomyopathy, familial hypertrophic, 1, included (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 181 | Cardiomyopathy, familial hypertrophic, 10 (10.9) | ||
| 182 | Cardiomyopathy, familial hypertrophic, 11 (10.55, 10.10, 10.107) | ||
| 183 | Cardiomyopathy, familial hypertrophic, 12 (10.50, 10.11) | ||
| 184 | Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.60) | ||
| 185 | Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17) | ||
| 186 | Cardiomyopathy, familial hypertrophic, 17 (10.18, 10.85) | ||
| 187 | Cardiomyopathy, familial hypertrophic, 18 (10.53, 10.19) | ||
| 188 | Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.42, 10.98, 10.109) | ||
| 189 | Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.8, 10.28, 10.100) | ||
| 190 | Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies ( | ||
| 191 | Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.62, 10.112) | ||
| 192 | Cardiomyopathy, familial hypertrophic, 4 (10.4, 17.37, 10.76, 10.113) | ||
| 193 | Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 194 | Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.9) | ||
| 195 | Cardiomyopathy, familial restrictive (10.6, 10.96, 10.81, 10.69) | ||
| 196 | Cardiomyopathy, hypertrophic, 10 (10.9) | ||
| 197 | Cardiomyopathy, X-linked dilated (10.90, 10.103) | ||
| 198 | Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.41) | ||
| 199 | Carey-Fineman-Ziter syndrome 2 ( | ||
| 200 | Carey-Fineman-Ziter syndrome 2 (3.42) | ||
| 201 | Carnitine deficiency, systemic primary (9.23) | ||
| 202 | Carnitine-acylcarnitine translocase deficiency (9.24) | ||
| 203 | Central core disease (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 204 | Centronuclear myopathy 2 (3.18) | ||
| 205 | Centronuclear myopathy 4 (3.19) | ||
| 206 | Centronuclear myopathy 5 (3.20) | ||
| 207 | Centronuclear myopathy 6 with fiber-type disproportion (3.21) | ||
| 208 | Centronuclear myopathy related to TTN (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 209 | centronuclear myopathy, recessive (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 210 | Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.105) | ||
| 211 | Cerebellar ataxia with neuropathy, hearing loss and intellectual disability (14.41, 17.50, 13.108) | ||
| 212 | Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26) | ? - (3p26) | |
| 213 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (14.131) | ||
| 214 | Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.54, 7.10, 13.48) | ||
| 215 | Cerebellar ataxia, pure (7.9, 13.6, 13.54, 7.10, 13.48) | ||
| 216 | Chanarin-Dorfman syndrome (9.30) | ||
| 217 | Charcot-Marie Tooth disease (14.36) | ||
| 218 | Charcot-Marie Tooth disease related to CNTNAP1 (12.97, 14.37) | ||
| 219 | Charcot-Marie Tooth disease, demyelinating type 1G (14.8) | ||
| 220 | Charcot-Marie Tooth disease, intermediate (14.21) | ||
| 221 | Charcot-Marie Tooth disease, intermediate (14.22) | ||
| 222 | Charcot-Marie-Tooth (12.48) | ||
| 223 | Charcot-Marie-Tooth (14.106) | ||
| 224 | Charcot-Marie-Tooth (5.22, 12.82) | ||
| 225 | Charcot-Marie-Tooth disease with deafness and mental retardation (14.41, 17.50, 13.108) | ||
| 226 | Charcot-Marie-Tooth disease, axonal (14.98) | ||
| 227 | Charcot-Marie-Tooth disease, axonal (12.113, 14.102) | ||
| 228 | Charcot-Marie-Tooth disease, axonal (15.39, 14.103) | ||
| 229 | Charcot-Marie-Tooth disease, axonal (14.104) | ||
| 230 | Charcot-Marie-Tooth disease, axonal (12.48) | ||
| 231 | Charcot-Marie-Tooth disease, axonal (14.81) | ||
| 232 | Charcot-Marie-Tooth disease, axonal (12.54, 12.55, 12.49, 14.82) | ||
| 233 | Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.71, 14.76) | ||
| 234 | Charcot-Marie-Tooth disease, axonal, related to CRYAB (5.2, 10.72, 14.79) | ||
| 235 | Charcot-Marie-Tooth disease, axonal, related to DHX9 ( | ||
| 236 | Charcot-Marie-Tooth disease, axonal, related to JAG1 (14.77) | ||
| 237 | Charcot-Marie-Tooth disease, axonal, related to NARS1 (14.142) | ||
| 238 | Charcot-Marie-Tooth disease, axonal, related to NOTCH2NLC (14.140, 5.24, 14.78) | ||
| 239 | Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.37, 14.99) | ||
| 240 | Charcot-Marie-Tooth disease, axonal, type 20 (14.61, 12.41) | ||
| 241 | Charcot-Marie-Tooth disease, axonal, type 2A2B (14.49, 14.83, 14.73) | ||
| 242 | Charcot-Marie-Tooth disease, axonal, type 2B1 (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 243 | Charcot-Marie-Tooth disease, axonal, type 2CC (12.83, 14.69) | ||
| 244 | Charcot-Marie-Tooth disease, axonal, type 2D (14.52, 12.27) | ||
| 245 | Charcot-Marie-Tooth disease, axonal, type 2DD (14.70) | ||
| 246 | Charcot-Marie-Tooth disease, axonal, type 2EE (14.86) | ||
| 247 | Charcot-Marie-Tooth disease, axonal, type 2FF (14.71) | ||
| 248 | Charcot-Marie-Tooth disease, axonal, type 2N (12.37, 14.60) | ||
| 249 | Charcot-Marie-Tooth disease, axonal; related to SACS (15.99, 13.102, 14.100) | ||
| 250 | Charcot-Marie-Tooth disease, congenital, vertical talus (14.12) | ||
| 251 | Charcot-Marie-Tooth disease, dominant intermediate A (14.14, 12.47) | ||
| 252 | Charcot-Marie-Tooth disease, dominant intermediate B (3.17, 2.15, 4.20, 14.15, 12.95) | ||
| 253 | Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | ||
| 254 | Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.53, 14.20) | ||
| 255 | Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.23, 14.58, 14.89) | ||
| 256 | Charcot-Marie-Tooth disease, recessive intermediate, A (14.23, 14.58, 14.89) | ||
| 257 | Charcot-Marie-Tooth disease, type 1, related to ATP1A1 (14.70) | ||
| 258 | Charcot-Marie-Tooth disease, type 1A (14.1, 14.44, 14.5, 14.6) | ||
| 259 | Charcot-Marie-Tooth disease, type 1B (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | ||
| 260 | Charcot-Marie-Tooth disease, type 1D (14.4, 14.29, 14.46) | ||
| 261 | Charcot-Marie-Tooth disease, type 1E (14.1, 14.44, 14.5, 14.6) | ||
| 262 | Charcot-Marie-Tooth disease, type 1F (14.7, 14.53, 14.20) | ||
| 263 | Charcot-Marie-Tooth disease, type 2A1 (14.48) | ||
| 264 | Charcot-Marie-Tooth disease, type 2B2 (14.85, 14.97) | ||
| 265 | Charcot-Marie-Tooth disease, type 2E (14.7, 14.53, 14.20) | ||
| 266 | Charcot-Marie-Tooth disease, type 2I (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | ||
| 267 | Charcot-Marie-Tooth disease, type 2J (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | ||
| 268 | Charcot-Marie-Tooth disease, type 2K (14.23, 14.58, 14.89) | ||
| 269 | Charcot-Marie-Tooth disease, type 4A (14.23, 14.58, 14.89) | ||
| 270 | Charcot-Marie-Tooth disease, type 4B1 (14.24) | ||
| 271 | charcot-marie-tooth disease, type 4b2 (14.25) | ||
| 272 | Charcot-Marie-Tooth disease, type 4D (14.28) | ||
| 273 | Charcot-Marie-Tooth disease, type 4F (14.31, 14.47) | ||
| 274 | charcot-marie-tooth disease, type 4j (14.34, 12.65) | ||
| 275 | Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.41, 17.50, 13.108) | ||
| 276 | charcot-marie-tooth disease, x-linked recessive, 2 (14.39) | ? - (Xp22.2) | |
| 277 | charcot-marie-tooth disease, x-linked recessive, 3 (14.40) | ||
| 278 | charcot-marie-tooth disease, x-linked recessive, 5 (14.42) | ||
| 279 | Charcot-Marie-Tooth neuropathy (14.11) | ||
| 280 | Charcot-Marie-Tooth neuropathy (14.10) | ||
| 281 | Charcot-Marie-Tooth neuropathy Type 2B (14.50) | ||
| 282 | Charcot-Marie-Tooth neuropathy Type 2F (14.54, 12.25) | ||
| 283 | Charcot-Marie-Tooth neuropathy Type 2H (14.55) | ? - (8q21.3) | |
| 284 | Charcot-Marie-Tooth neuropathy Type 2L (14.59, 12.24, 4.27, 4.28) | ||
| 285 | Charcot-Marie-Tooth neuropathy Type 2P (14.62) | ||
| 286 | Charcot-Marie-Tooth neuropathy Type 2Q (14.63) | ||
| 287 | Charcot-Marie-Tooth neuropathy Type 2R (14.93) | ||
| 288 | Charcot-Marie-Tooth neuropathy Type 2T (14.95, 13.39) | ||
| 289 | Charcot-Marie-Tooth neuropathy Type 2U (14.64, 15.65) | ||
| 290 | Charcot-Marie-Tooth neuropathy Type 2V (14.65) | ||
| 291 | Charcot-Marie-Tooth neuropathy Type 2W (14.66) | ||
| 292 | Charcot-Marie-Tooth neuropathy Type 2X (15.30, 12.59, 14.96) | ||
| 293 | Charcot-Marie-Tooth neuropathy Type 2Y (5.37, 4.22, 12.68, 1.57, 14.67) | ||
| 294 | Charcot-Marie-Tooth neuropathy Type 2Z (14.68) | ||
| 295 | Charcot-Marie-Tooth neuropathy Type 4B3 (14.26) | ||
| 296 | Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.29, 14.46) | ||
| 297 | Charcot-Marie-Tooth neuropathy Type 4F (14.27) | ||
| 298 | Charcot-Marie-Tooth neuropathy Type 4G (14.32) | ||
| 299 | Charcot-Marie-Tooth neuropathy Type 4H (14.33) | ||
| 300 | Charcot-Marie-Tooth neuropathy Type 4K (14.35) | ||
| 301 | Charcot-Marie-Tooth neuropathy Type F (14.19) | ||
| 302 | Charcot-Marie-Tooth neuropathy with glomerulopathy (14.18) | ||
| 303 | Charcot-Marie-Tooth neuropathy X-linked 6 (14.43) | ||
| 304 | charcot-marie-tooth neuropathy, dominant intermediate A ( | ? - (10q24.1-q25.1) | |
| 305 | Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.16) | ||
| 306 | Charcot-Marie-Tooth neuropathy, with fibulin defect (14.9) | ||
| 307 | Charcot-Marie-Tooth neuropathy, X-linked (14.38, 14.46) | ||
| 308 | Charlevoix disease (14.132) | ||
| 309 | Childhood-onset myopathy with hyperCKaemia (3.61) | ||
| 310 | CMT recessive intermediate D (14.92) | ||
| 311 | CMT2 related to KIF5A (15.6, 14.74, 12.79, 1.23) | ||
| 312 | Coenzyme Q10 deficiency (13.110) | ||
| 313 | Coenzyme Q10 deficiency 1 (17.55) | ||
| 314 | Coenzyme Q10 deficiency 5 (17.57) | ||
| 315 | Coenzyme Q10 deficiency 6 (17.58) | ||
| 316 | Coenzyme Q10 deficiency 7 (17.59, 15.102) | ||
| 317 | Coenzyme Q10 deficiency 8 (17.60, 12.13) | ||
| 318 | COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11) | ||
| 319 | Combined oxidative phosphorylation deficiency (17.52) | ||
| 320 | Combined oxidative phosphorylation deficiency 43 (16.25) | ||
| 321 | Combined oxidative phosphorylation deficiency 44 (17.51) | ||
| 322 | Combined oxidative phosphorylation deficiency 50 (17.53) | ||
| 323 | Combined oxidative phosphorylation deficiency 58 (11.47, 17.54) | ||
| 324 | Combined Oxidative phosphorylation Deficiency 6 (14.41, 17.50, 13.108) | ||
| 325 | Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.104, 14.138, 12.14) | ||
| 326 | Congenital amyotrophy (17.36) | ||
| 327 | congenital cataracts, facial dysmorphism, and neuropathy (14.137) | ||
| 328 | Congenital disorder of glycosylation type 1 (9.14) | ||
| 329 | Congenital muscle dystrophy with mitochondrial structural abnormalities (2.44) | ||
| 330 | Congenital muscular dystrophy (2.45) | ? - (1q42) | |
| 331 | Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (9.16) | ||
| 332 | Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 333 | Congenital muscular dystrophy related to TRAPPC2L (2.52) | ||
| 334 | Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.36, 2.42) | ||
| 335 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan (9.13) | ||
| 336 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan ( | ||
| 337 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.30, 1.52) | ||
| 338 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.28) | ||
| 339 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.51, 2.27) | ||
| 340 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.29) | ||
| 341 | Congenital muscular dystrophy with integrin defect (2.14) | ||
| 342 | Congenital muscular dystrophy with merosin deficiency (2.45) | ? - (1q42) | |
| 343 | Congenital muscular dystrophy with rigid spine related to ACTA1 (3.2, 3.35, 3.1, 2.46) | ||
| 344 | Congenital musuclar dystrophy with telethonin defect (10.51, 2.16, 10.27) | ||
| 345 | Congenital myasthenic syndrome (11.25) | ||
| 346 | Congenital myasthenic syndrome (1.9, 11.41) | ||
| 347 | Congenital myasthenic syndrome (11.42) | ||
| 348 | Congenital myasthenic syndrome (11.46) | ||
| 349 | Congenital myasthenic syndrome (11.47, 17.54) | ||
| 350 | Congenital Myasthenic syndrome related to GMPPB (1.53, 2.39, 2.32, 11.37) | ||
| 351 | Congenital myasthenic syndrome related to MuSK (11.17, 17.28) | ||
| 352 | Congenital myasthenic syndrome related to RPH3A (11.40) | ||
| 353 | Congenital myasthenic syndrome type 19 (11.27) | ||
| 354 | Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.13) | ||
| 355 | Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.12) | ||
| 356 | Congenital myasthenic syndrome with episodic apnea (11.28, 12.29) | ||
| 357 | Congenital myasthenic syndrome with intellectual disability and ataxia (11.26) | ||
| 358 | Congenital myasthenic syndrome with nephrotic syndrome (11.34) | ||
| 359 | Congenital myopathy 10A, severe variant (3.29, 3.28) | ||
| 360 | Congenital myopathy 10B, mild variant (3.29, 3.28) | ||
| 361 | Congenital Myopathy 11 (10.120, 3.38) | ||
| 362 | Congenital myopathy 12 (17.38) | ||
| 363 | Congenital myopathy 13 (3.46, 3.47) | ||
| 364 | Congenital myopathy 14 (3.48) | ||
| 365 | Congenital myopathy 15 (3.49) | ||
| 366 | Congenital myopathy 16 (17.10, 12.94, 3.50) | ||
| 367 | Congenital myopathy 1A, dominant, with susceptibility to malignant hyperthermia (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 368 | Congenital myopathy 1B, recessive (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 369 | Congenital Myopathy 22A, classic (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 370 | Congenital Myopathy 22B, severe fetal (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 371 | Congenital myopathy 25 (3.59) | ||
| 372 | Congenital myopathy 26 (12.76, 3.60) | ||
| 373 | Congenital myopathy 27 (3.61) | ||
| 374 | Congenital myopathy 2A, typical (3.2, 3.35, 3.1, 2.46) | ||
| 375 | Congenital myopathy 2B, severe infantile (3.2, 3.35, 3.1, 2.46) | ||
| 376 | Congenital myopathy 2C, severe infantile, dominant (3.2, 3.35, 3.1, 2.46) | ||
| 377 | Congenital myopathy 3 with rigid spine (2.13, 5.13) | ||
| 378 | Congenital myopathy 5 with cardiomyopathy (formerly Salih myopathy) (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 379 | Congenital myopathy 6 with ophtalmoplegia (3.33) | ||
| 380 | Congenital myopathy 7A, myosin storage, autosomal dominant (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 381 | Congenital myopathy 7B, myosin storage, autosomal recessive (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 382 | Congenital myopathy 8 (10.64, 10.25, 3.43, 4.10) | ||
| 383 | Congenital myopathy 9A (3.44, 3.45) | ||
| 384 | Congenital myopathy 9B, proximal with minicore (3.44, 3.45) | ||
| 385 | Congenital myopathy associated with ptosis (3.63) | ||
| 386 | Congenital Myopathy related to PYROXD1 (5.9, 1.59, 3.57) | ||
| 387 | Congenital myopathy with fatal cardiomyopathy (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 388 | Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.39, 1.24, 3.52) | ||
| 389 | Congenital myopathy with severe hypotonia and axial weakness (17.41) | ||
| 390 | congenital skeletal myopathy and fatal cardiomyopathy (10.4, 17.37, 10.76, 10.113) | ||
| 391 | CPT deficiency, hepatic, type II (9.22) | ||
| 392 | CRASH syndrome (15.90) | ||
| 393 | CRASH syndrome (15.90) | ||
| 394 | Creatine phosphokinase, elevated serum (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 395 | Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 396 | Danon disease (5.17) | ||
| 397 | Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.47) | ||
| 398 | Dejerine-Sottas neuropathy, autosomal recessive (14.31, 14.47) | ||
| 399 | Dejerine-Sottas syndrome (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | ||
| 400 | Dejerine-Sottas syndrome (14.4, 14.29, 14.46) | ||
| 401 | Dejerine-Sottas Syndrome (14.1, 14.44, 14.5, 14.6) | ||
| 402 | Desmin-related myopathy (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 403 | Desmin-related myopathy with Mallory bodies (2.13, 5.13) | ||
| 404 | Developmental delay with hypotonia, myopathy and brain abnormalities (2.47) | ||
| 405 | Dilated cardiomyopathy realted to GATAD1 (10.82) | ||
| 406 | Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.72, 14.79) | ||
| 407 | Dilated cardiomyopathy related to BAG3 (5.7, 10.71, 14.76) | ||
| 408 | Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.80, 10.22) | ||
| 409 | Dilated Cardiomyopathy related to DOLK (10.94) | ||
| 410 | Dilated cardiomyopathy related to integrin-linked kinase (10.79) | ||
| 411 | Dilated cardiomyopathy related to laminin-alpha4 (10.73) | ||
| 412 | Dilated cardiomyopathy related to MURC (10.93) | ||
| 413 | Dilated cardiomyopathy related to MYBPC3 (10.4, 17.37, 10.76, 10.113) | ||
| 414 | Dilated cardiomyopathy related to nesprin-1 (1.5, 13.68, 17.23, 10.92) | ||
| 415 | Dilated cardiomyopathy related to PRDM16 (10.75, 10.111) | ||
| 416 | Dilated cardiomyopathy related to RAF1 (10.77) | ||
| 417 | dilated cardiomyopathy, 1aa (10.64, 10.25, 3.43, 4.10) | ||
| 418 | Dilated cardiomyopathy, 1F ( | ? - (6q23) | |
| 419 | Dilated cardiomyopathy, 1I (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 420 | Dilated Cardiomyopathy, 1L (1.30, 10.49) | ||
| 421 | Dilated cardiomyopathy, 1N (10.51, 2.16, 10.27) | ||
| 422 | Dilated cardiomyopathy, 1OO (10.78) | ||
| 423 | Dilated cardiomyopathy, 2C (10.83) | ||
| 424 | Dilated cardiomyopathy, 2D (10.84) | ||
| 425 | Dilated cardiomyopathy, 2E (10.18, 10.85) | ||
| 426 | Dilated cardiomyopathy, 2F (10.86) | ||
| 427 | Dilated cardiomyopathy, 2G (10.87) | ||
| 428 | Dilated cardiomyopathy, 2H (10.89) | ||
| 429 | Dilated cardiomyopathy, 2I (10.88) | ||
| 430 | Dilated cardiomyopathy, related to DSG2 (10.123, 10.65) | ||
| 431 | Distal hereditary motor neuropathies (14.14, 12.47) | ||
| 432 | Distal motor neuropathy (12.33, 15.83, 4.30) | ||
| 433 | Distal motor neuropathy related to SYT2 (11.14, 12.46, 11.15) | ||
| 434 | Distal Myopathy (4.26) | ||
| 435 | Distal myopathy with nebulin defect (3.5, 4.17, 4.18) | ||
| 436 | Distal myopathy, late-onset (12.64, 4.29) | ||
| 437 | Distal Spinal Muscular Atrophy with Calf Predominance (12.28) | ||
| 438 | Distal spinal muscular atrophy, type VB (15.14, 12.34, 12.10) | ||
| 439 | Duchenne muscular dystrophy (1.1, 10.91) | ||
| 440 | Dusty core disease related to RYR1 (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 441 | Dysmyelinating leukodystrophy (15.44) | ||
| 442 | Dyssegmental dysplasia, Silverman-Handmaker type (6.8) | ||
| 443 | Dystrophia myotonica (6.1) | ||
| 444 | Early onset axonal neuropathy with sensory ataxia (14.75) | ||
| 445 | Early onset distal myopathy with KLHL9 mutations (4.21) | ||
| 446 | Early-onset axonal Charcot-Marie-Tooth with ataxia (14.85, 14.97) | ||
| 447 | Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.59, 3.57) | ||
| 448 | Emery-Dreifuss Autosomal recessive (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 449 | Emery-dreifuss muscular dystrophy 1 (1.2) | ||
| 450 | Emery-dreifuss muscular dystrophy 4 (1.5, 13.68, 17.23, 10.92) | ||
| 451 | Emery-dreifuss muscular dystrophy 6 (1.7, 5.33, 5.34, 5.35) | ||
| 452 | Emery-dreifuss muscular dystrophy 7 (10.119, 1.8) | ||
| 453 | Emery-Dreifuss muscular dystrophy, autosomal dominant (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 454 | Endocardial fibroelastosis-2 (10.90, 10.103) | ||
| 455 | Enolase deficiency (9.20) | ||
| 456 | Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.29, 1.35, 11.36, 1.58) | ||
| 457 | episodic ataxia type 5, included (13.50) | ||
| 458 | episodic ataxia type 6 (13.51) | ||
| 459 | episodic ataxia type-3 (13.49) | ? - (1q42) | |
| 460 | episodic ataxia type-7 (13.52) | ? - (19q13) | |
| 461 | Episodic ataxia type-9 (13.53) | ||
| 462 | Episodic ataxia with myokymia (7.12) | ||
| 463 | Episodic ataxia, type 2 (7.9, 13.6, 13.54, 7.10, 13.48) | ||
| 464 | episodic muscle weakness, x-linked (5.36) | ? - (Xp22.3) | |
| 465 | Episodic pain syndrome, familial 3 (14.118, 14.129) | ||
| 466 | Erythrocyte lactate transporter defect (9.21) | ||
| 467 | Erythromelalgia, Primary (14.113, 14.128) | ||
| 468 | Escobar syndrome (multiple pterygium syndrome) (11.35) | ||
| 469 | Exertional myoglobinuria due to deficiency of LDH-A (9.19) | ||
| 470 | Facio-scapulo-humeral muscular dystrophy (1.12) | ||
| 471 | Facio-scapulo-humeral muscular dystrophy, type 2 (1.11) | ||
| 472 | Familial amyloid neuropathy (17.4) | ||
| 473 | Familial amyotrophic lateral sclerosis (4.13, 12.75) | ||
| 474 | Familial brachial plexus neuropathy (14.134) | ||
| 475 | Familial dysautonomia (Riley-Day syndrome) (17.3, 14.114) | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
| 476 | Familial hypertrophic cardiomyopathy, 13 (10.12, 10.63) | ||
| 477 | Familial hypertrophic cardiomyopathy, 14 (10.1, 10.68, 10.13, 10.189) | ||
| 478 | Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.21) | DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | |
| 479 | Familial limb girdle myasthenia related to agrin (11.16, 17.33) | ||
| 480 | Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.20) | ||
| 481 | Familial limb-girdle myasthenia related to DOK7 (11.18, 17.29) | ||
| 482 | familial sinusal bradycardia (10.188, 10.184) | ||
| 483 | Familial spastic paraplegia, autosomal dominant, 2 (15.2) | ||
| 484 | Fatty aldehyde dehydrogenase (15.86) | ||
| 485 | Fetal akinesia deformation related to AGRN (11.16, 17.33) | ||
| 486 | Fetal akinesia deformation sequance with MUSK defect (11.17, 17.28) | ||
| 487 | Fetal akinesia deformation sequence 2 (11.19, 17.30) | ||
| 488 | Fetal akinesia deformation sequence 3 (11.18, 17.29) | ||
| 489 | Fetal akinesia deformation sequence 4 (17.31) | ||
| 490 | Fetal akinesia deformation sequence related to RYR1 (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 491 | Fibrodysplasia ossificans progressiva (5.31) | ||
| 492 | Fibrosis of extraocular muscles, congenital, 1 (17.5) | ||
| 493 | Fibrosis of extraocular muscles, congenital, 2 (17.6) | ||
| 494 | Fibrosis of extraocular muscles, congenital, 3 (17.7) | ||
| 495 | Fibrosis of extraocular muscles, congenital, 5 (17.8) | ||
| 496 | Friedreich ataxia (13.57) | ||
| 497 | friedreich ataxia 2 (13.58) | ? - (9p23-p11) | |
| 498 | Friedreich ataxia with retained reflexes (13.57) | ||
| 499 | fukuyama congenital muscular dystrophy (2.36, 2.22, 10.61) | ||
| 500 | Galloway-Mowat syndrome 1 (13.65) | ||
| 501 | Giant axonal neuropathy 2 (14.136) | ||
| 502 | Giant axonal neuropathy-1 (14.135) | ||
| 503 | Glycogen branching enzyme deficiency (9.3) | GBE1 (3p12) Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) | |
| 504 | Glycogen storage disease II (9.1, 10.102, 1.55) | ||
| 505 | Glycogen storage disease IIb (5.17) | ||
| 506 | glycogen storage disease of heart, lethal congenital (10.5, 9.9) | ||
| 507 | glycogen storage disease type 0 (9.8) | ||
| 508 | Glycogen storage disease type IIIa (9.2) | ||
| 509 | Glycogen storage disease type IIIb (9.2) | ||
| 510 | Glycogen storage disease type IIIc (9.2) | ||
| 511 | Glycogen storage disease type IIId (9.2) | ||
| 512 | Glycogen storage disease VII (9.5) | ||
| 513 | Glycogen storage disease X (9.18) | ||
| 514 | Glycogen storage disease XI (9.19) | ||
| 515 | Glycogen storage disease XIII (9.20) | ||
| 516 | Glycogen storage disease XIV (9.15) | ||
| 517 | Glycogen storage disease XV (9.7, 9.11) | ||
| 518 | glycogen storage disease, type IXD (9.6) | ||
| 519 | Hereditary bundle branch system defect (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 520 | Hereditary motor and sensory neuropathy – Lom (with deafness) (14.28) | ||
| 521 | Hereditary motor and sensory neuropathy 2A (14.49, 14.83, 14.73) | ||
| 522 | Hereditary motor and sensory neuropathy V (12.38) | ? - (4q34.3-q35.2) | |
| 523 | Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.49, 14.83, 14.73) | ||
| 524 | Hereditary motor and sensory, neuropathy, proximal, type (14.72, 15.60) | ||
| 525 | Hereditary motor and sensory, type 1C (14.3) | ||
| 526 | Hereditary myopathy with early respiratory failure (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 527 | Hereditary peripheral neuropathy (14.141) | ||
| 528 | hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.109) | ? - (3p24-p22) | |
| 529 | Hereditary sensory and autonomic neuropathy type IV (14.115) | ||
| 530 | Hereditary sensory and autonomic neuropathy type VI (14.117, 3.62) | ||
| 531 | Hereditary sensory and autonomic neuropathy type VIII (14.119) | ||
| 532 | Hereditary sensory neuropathy type IF (14.123) | ||
| 533 | Hereditary sensory neuropathy with dementia and hearing loss (14.122) | ||
| 534 | Hereditary sensory neuropathy, type IIB (14.112) | ||
| 535 | Hutchinson-Gilford progeria syndrome (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 536 | Hydrocephalus with Hirschspung disease and cleft palate (15.90) | ||
| 537 | Hyperckemia, idiopathic (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 538 | Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 539 | Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 540 | Hypertrophic cardiomyopathy related calreticulin 3 (10.20) | ||
| 541 | Hypertrophic cardiomyopathy related to actinin-2 (10.64, 10.25, 3.43, 4.10) | ||
| 542 | Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.80, 10.22) | ||
| 543 | Hypertrophic cardiomyopathy related to cardiac myopalladin (10.74, 3.13, 10.24, 10.99) | ||
| 544 | Hypertrophic cardiomyopathy related to junctophilin (10.18, 10.85) | ||
| 545 | Hypertrophic cardiomyopathy related to myozenin 2 (10.17) | ||
| 546 | Hypertrophic cardiomyopathy related to nexilin (10.66, 10.21) | ||
| 547 | Hypertrophic cardiomyopathy related to phospholamban (10.53, 10.19) | ||
| 548 | Hypertrophic cardiomyopathy related to TCAP (10.51, 2.16, 10.27) | ||
| 549 | Hypertrophic cardiomyopathy related to ZASP (5.5, 10.41, 4.19, 10.26, 10.106) | ||
| 550 | Hypertrophic cardiomyopathy, 21 (10.23) | ? - (7p12.1-q21) | |
| 551 | Hypertrophic cardiomyopathy, 28 (10.30) | ||
| 552 | Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.34) | ||
| 553 | Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.31) | ||
| 554 | hypo- or hypercontractile muscle disease (5.49) | ||
| 555 | Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.22) | ||
| 556 | Hypokalaemic periodic paralysis (7.11, 10.182) | ||
| 557 | Hypokalaemic periodic paralysis (7.5) | ||
| 558 | Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.39, 1.24, 3.52) | ||
| 559 | Hypokalemic periodic paralysis (7.8, 8.5, 3.39, 1.24, 3.52) | ||
| 560 | Inclusion body myopathy and brain white matter abnormalities (12.77, 12.114) | ||
| 561 | Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.37, 4.22, 12.68, 1.57, 14.67) | ||
| 562 | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.38, 5.21) | ||
| 563 | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.37, 4.22, 12.68, 1.57, 14.67) | ||
| 564 | Inclusion body myopathy, autosomal recessive (4.5) | ||
| 565 | Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.33) | ||
| 566 | Infantile-onset multisystem disease with progressive muscle weakness (16.28) | ||
| 567 | Inherited peripheral neuropathy (12.54, 12.55, 12.49, 14.82) | ||
| 568 | Isolated inclusion body myopathy (4.7, 12.74, 3.34) | ||
| 569 | Jervell and Lange-Nielsen cardio-auditory syndrome (10.140, 10.157) | ||
| 570 | jervell and lange-nielsen syndrome (10.156, 10.136, 10.160, 10.154) | ||
| 571 | Kennedy disease (12.50) | ||
| 572 | Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.14) | ||
| 573 | Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4) | ||
| 574 | LAP1B related muscular dystrophy (1.9, 11.41) | ||
| 575 | Late onset spinal muscular atrophy related to HEXB (12.108) | ||
| 576 | late-onset spinal motor neuronopathy, Jokela type (12.45, 12.87, 16.24) | ||
| 577 | Left ventricular noncompaction 10 (10.4, 17.37, 10.76, 10.113) | ||
| 578 | Left ventricular noncompaction 2 (10.105) | ? - (11q15) | |
| 579 | Left ventricular noncompaction 3 (5.5, 10.41, 4.19, 10.26, 10.106) | ||
| 580 | Left ventricular noncompaction 4 (3.2, 3.35, 3.1, 2.46) | ||
| 581 | Left ventricular noncompaction 5 (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 582 | Left ventricular noncompaction 6 (10.2, 10.42, 10.98, 10.109) | ||
| 583 | Left ventricular noncompaction 7 (10.110) | ||
| 584 | LEFT VENTRICULAR NONCOMPACTION 8 (10.75, 10.111) | ||
| 585 | Left ventricular noncompaction 8 (10.75, 10.111) | ||
| 586 | Left ventricular noncompaction 9 (10.3, 10.62, 10.112) | ||
| 587 | Lethal congenital contractural syndrome 3 (12.93) | ||
| 588 | Lethal congenital contracture syndrome 1 (12.91) | ||
| 589 | Lethal Congenital Contracture Syndrome 10 (12.100) | ||
| 590 | Lethal Congenital Contracture Syndrome 11 (12.101) | ||
| 591 | Lethal congenital contracture syndrome 2 (12.92) | ||
| 592 | Lethal Congenital Contracture Syndrome 4 (17.10, 12.94, 3.50) | ||
| 593 | Lethal Congenital Contracture Syndrome 5 (3.17, 2.15, 4.20, 14.15, 12.95) | ||
| 594 | Lethal Congenital Contracture Syndrome 6 (12.96) | ||
| 595 | Lethal congenital contracture syndrome 7 (12.97, 14.37) | ||
| 596 | Lethal Congenital Contracture Syndrome 8 (12.98) | ||
| 597 | Lethal Congenital Contracture Syndrome 9 (12.99) | ||
| 598 | Lethal Congenital Contracture Syndrome related to TTN (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 599 | Leukodystrophy hypomyelinating 23 with ataxia, deafness, liver dysfunction and dilated cardiomyopathy (13.107) | ||
| 600 | LGMD related to DTNA (10.104) | ||
| 601 | LGMD related to KBTBD13 (3.8) | ||
| 602 | LGMD related to PYROXD1 (5.9, 1.59, 3.57) | ||
| 603 | LGMDD1 (1.17, 4.24, 4.25) | ||
| 604 | LGMDD4 (1.25, 1.20) | ||
| 605 | LGMDD5 (2.2, 2.6) | ||
| 606 | LGMDD5 (2.5, 2.4, 2.7, 2.12, 2.3) | ||
| 607 | LGMDD5 (2.8, 2.4) | ||
| 608 | LGMDR10 (Formerly LGMD2J) (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 609 | LGMDR20 (2.25, 1.49) | ||
| 610 | LGMDR22 (2.2, 2.6) | ||
| 611 | LGMDR22 (2.5, 2.4, 2.7, 2.12, 2.3) | ||
| 612 | LGMDR22 (2.8, 2.4) | ||
| 613 | LGMDR23 (2.1, 1.38) | ||
| 614 | LGMDR24 (2.26, 1.50) | ||
| 615 | LGMDR26 (1.40) | ||
| 616 | Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 617 | Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 618 | Limb girdle muscular dystrophy with ophthalmoplegia (5.29, 1.35, 11.36, 1.58) | ||
| 619 | Limb-Girdle, Muscular dystrophy, type 1G (1.19) | ||
| 620 | Limb-girdle, muscular dystrophy, type 1h (1.22) | ? - (3p23-p25) | |
| 621 | Limb-Girdle, Muscular dystrophy, type 2M (2.36, 2.22, 10.61) | ||
| 622 | Limb-girdle, muscular dystrophy, type 2n (2.20, 2.34, 1.45) | ||
| 623 | Limb-girdle, muscular dystrophy, type 2o (2.35, 2.21, 1.46) | ||
| 624 | Limb-girdle, muscular dystrophy, type 2q (5.29, 1.35, 11.36, 1.58) | ||
| 625 | Limb-Girdle, Muscular dystrophy, type 2R (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 626 | Limb-Girdle, Muscular dystrophy, type 2S (1.36, 2.42) | ||
| 627 | Limb-Girdle, Muscular dystrophy, type 2T (1.53, 2.39, 2.32, 11.37) | ||
| 628 | Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.102, 1.55) | ||
| 629 | Limb-Girdle, Muscular dystrophy, type 2W (1.56) | ||
| 630 | Limb-Girdle, Muscular dystrophy, type 2X (1.39) | ||
| 631 | Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 11.41) | ||
| 632 | Limb-Girdle, Muscular dystrophy, type 2Z (1.37) | ||
| 633 | Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.34) | ||
| 634 | lipodystrophy, congenital generalized, type 4 (1.13) | ||
| 635 | Lipodystrophy, familial partial, type 2 (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 636 | Long QT syndrome 10 (10.145, 10.174) | ||
| 637 | Long QT syndrome 11 (10.146) | ||
| 638 | Long QT syndrome 12 (10.147) | ||
| 639 | Long QT syndrome 13 (10.152, 10.148) | ||
| 640 | Long QT syndrome 14 (10.131, 10.149) | ||
| 641 | Long QT syndrome 15 (10.150) | ||
| 642 | Long QT syndrome 16 (10.151, 10.133) | ||
| 643 | Long QT syndrome 9 (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 644 | Long QT syndrome-1 (10.156, 10.136, 10.160, 10.154) | ||
| 645 | Long QT syndrome-2 (10.137, 10.153) | ||
| 646 | Long QT syndrome-3 (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 647 | Long QT syndrome-4 (10.139) | ||
| 648 | Long QT syndrome-5 (10.140, 10.157) | ||
| 649 | Long QT syndrome-6 (10.141, 10.161) | ||
| 650 | Long QT syndrome-7 (10.155, 10.166, 10.142) | ||
| 651 | Lower motor neuron disease with respiratory failure related to MAPT (12.112) | ||
| 652 | luma related muscular dystrophy (10.119, 1.8) | ||
| 653 | Lysosomal storage myopathy (9.35) | ||
| 654 | Machado-Joseph disease (13.3) | ||
| 655 | Malignant hyperthermia susceptibility 1 (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 656 | Malignant hyperthermia susceptibility 2 (8.2) | ? - (17q11.2-q24) | |
| 657 | Malignant hyperthermia susceptibility 3 (8.3) | ? - (7q21-q22) | |
| 658 | Malignant hyperthermia susceptibility 4 (8.4) | ? - (3q13.1) | |
| 659 | Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.39, 1.24, 3.52) | ||
| 660 | Malignant hyperthermia susceptibility 6 (8.6) | ? - (5p) | |
| 661 | Mandibuloacral dysplasia with type a lipodystrophy (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 662 | Marinesco-Sjogren syndrome (13.97) | ||
| 663 | Marssili syndrome (insensitivity to pain, congenital, AD) (14.127) | ||
| 664 | MASA syndrome (15.90) | ||
| 665 | McArdle disease (9.4) | ||
| 666 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (17.44) | ||
| 667 | minicore myopathy with external ophthalmoplegia (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 668 | Mitochondrial complex 1 deficiency, nuclear type 11 (10.31) | ||
| 669 | Mitochondrial complex 1 deficiency, nuclear type 20 (9.29) | ||
| 670 | Mitochondrial complex I deficiency, nuclear type 29 (16.31) | ||
| 671 | Mitochondrial complex IV deficiency (16.35) | ||
| 672 | Mitochondrial complex IV deficiency, nuclear type 11 (12.115) | ||
| 673 | Mitochondrial complex IV deficiency, nuclear type 18 (16.26) | ||
| 674 | Mitochondrial complex IV deficiency, nuclear type 2 (10.37, 14.99) | ||
| 675 | Mitochondrial complex IV deficiency, nuclear type 6 (10.38) | ||
| 676 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.12) | ||
| 677 | Mitochondrial DNA depletion syndrome 11 (16.17) | ||
| 678 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.2, 16.19, 16.18) | ||
| 679 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.2, 16.19, 16.18) | ||
| 680 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (17.49) | ||
| 681 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.21, 16.20) | ||
| 682 | Mitochondrial DNA depletion syndrome 20 (MNGIE type) (17.61) | ||
| 683 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.10, 16.14) | ||
| 684 | Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.1, 13.98, 16.7, 16.16, 16.15) | ||
| 685 | Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.1, 13.98, 16.7, 16.16, 16.15) | ||
| 686 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (17.45) | ||
| 687 | Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (17.47, 16.5, 17.46) | ||
| 688 | Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (17.48) | ||
| 689 | Mitochondrial dna depletion syndrome, myopathic form (16.13, 13.28, 16.9) | ||
| 690 | Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.33) | ||
| 691 | Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.36) | ||
| 692 | Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.35) | ||
| 693 | Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.32) | ||
| 694 | Mitochondrial myopathy (17.44) | ||
| 695 | Mitochondrial myopathy (1.31) | ||
| 696 | Mitochondrial myopathy and multiple mtDNA deletions (16.37) | ||
| 697 | Mitochondrial myopathy and sideroblastic anemia 1 (16.22) | ||
| 698 | Mitochondrial myopathy related to SLC25A26 (16.36) | ||
| 699 | Mitochondrial myopathy with lactic acidosis, cognitive impairment and autistic features (16.32) | ||
| 700 | Mitochondrial myopathy with severe neurological manifestations (16.27) | ||
| 701 | Mitochondrial myopathy, episodic with or withour atrophy and reversible leukoencephalopathy (16.30) | ||
| 702 | Miyoshi muscular dystrophy 2 (4.2) | ? - (8q22.3) | |
| 703 | Miyoshi muscular dystrophy 3
(1.34, 4.3, 1.14) | ||
| 704 | Miyoshi myopathy (4.1, 1.26) | ||
| 705 | Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures (14.120) | ||
| 706 | Multiminicore disease, classical form (2.13, 5.13) | ||
| 707 | Multiple acyl-coa dehydrogenase deficiency (9.27) | ||
| 708 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.25) | ||
| 709 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.26) | ||
| 710 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.27) | ||
| 711 | Multiple mitochondrial dysfunctions syndrome 10 (16.38) | ||
| 712 | Muscle dystrophy with congenital disorder of glycosylation (9.16) | ||
| 713 | Muscle dystrophy with congenital disorder of glycosylation, type Io (1.54, 2.40) | ||
| 714 | Muscle hypertrophy (5.30) | ||
| 715 | Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections (5.40, 5.45) | ||
| 716 | Muscle-eye-brain disease (1.53, 2.39, 2.32, 11.37) | ||
| 717 | Muscle-eye-brain disease (1.48, 2.23, 2.37) | ||
| 718 | Muscle-eye-brain disease (2.20, 2.34, 1.45) | ||
| 719 | Muscular dystrophy ( | ||
| 720 | Muscular dystrophy (1.16) | ||
| 721 | Muscular dystrophy related to GOSR2 (2.43) | ||
| 722 | Muscular dystrophy with gnathodiaphyseal dysplasia (1.34, 4.3, 1.14) | ||
| 723 | Muscular dystrophy with hearing loss and ovarian insufficiency syndrome (1.15) | ||
| 724 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.26, 1.50) | ||
| 725 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 2.34, 1.45) | ||
| 726 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.35, 2.21, 1.46) | ||
| 727 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.19, 1.44, 2.33) | ||
| 728 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 2.38) | ||
| 729 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (1.48, 2.23, 2.37) | ||
| 730 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), ( | ||
| 731 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.36, 2.22, 10.61) | ||
| 732 | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B15 (1.54, 2.40) | ||
| 733 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.35, 2.21, 1.46) | ||
| 734 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.24, 2.38) | ||
| 735 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (1.48, 2.23, 2.37) | ||
| 736 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.36, 2.22, 10.61) | ||
| 737 | Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.51, 2.27) | ||
| 738 | Muscular dystrophy-dystroglycanopathy (Limb-girdle), type C12 (2.30, 1.52) | ||
| 739 | Muscular dystrophy-dystrooglycanopathy (congenital with mental retardation), type B1 (2.19, 1.44, 2.33) | ||
| 740 | Muscular dystrophy, autosomal dominant, with rimmed vacuoles ( | ? - (19p13) | |
| 741 | Muscular dystrophy, congenital Davignon-Chauveau type (2.48, 12.16) | ||
| 742 | Muscular dystrophy, congenital merosin-deficient (2.1, 1.38) | ||
| 743 | Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14) | ||
| 744 | Muscular dystrophy, congenital, with cataracts and intellectual disability (2.49) | ||
| 745 | Muscular dystrophy, facioscapulohumeral, type 1A (1.10) | ||
| 746 | Muscular dystrophy, LGMDR27 (1.41) | ||
| 747 | Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.34, 4.3, 1.14) | ||
| 748 | Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.35, 2.21, 1.46) | ||
| 749 | Muscular dystrophy, limb-girdle, autosomal recessive 29 (1.43) | ||
| 750 | Muscular dystrophy, Limb-Girdle, type 1A (5.3, 5.4, 4.16) | ||
| 751 | Muscular dystrophy, limb-girdle, type 1B (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 752 | Muscular dystrophy, Limb-Girdle, Type 1F (1.18) | ||
| 753 | Muscular dystrophy, limb-girdle, type 1G ( | ? - (4q21) | |
| 754 | Muscular dystrophy, limb-girdle, type 2A (1.25, 1.20) | ||
| 755 | Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26) | ||
| 756 | Muscular dystrophy, limb-girdle, type 2C (1.29) | ||
| 757 | Muscular dystrophy, limb-girdle, type 2D (1.27) | ||
| 758 | Muscular dystrophy, limb-girdle, type 2E (1.28) | ||
| 759 | Muscular dystrophy, limb-girdle, type 2F (1.30, 10.49) | ||
| 760 | Muscular dystrophy, limb-girdle, type 2G (10.51, 2.16, 10.27) | ||
| 761 | Muscular dystrophy, limb-girdle, type 2H (1.32) | ||
| 762 | Muscular dystrophy, limb-girdle, type 2I (1.48, 2.23, 2.37) | ||
| 763 | Muscular dystrophy, Limb-Girdle, type 2K (2.19, 1.44, 2.33) | ||
| 764 | Muscular dystrophy, limb-girdle, type IC (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 765 | Muscular dystrophy, rigid spine, 1 (2.13, 5.13) | ||
| 766 | Muscular dystrophy; limb-girdle, autosomal recessive 28 (1.42) | ||
| 767 | Myasthenia gravis, autosomal recessive (11.13) | ||
| 768 | Myasthenia gravis, familial infantile (11.13) | ||
| 769 | Myasthenia gravis, familial infantile, 2 (11.13) | ||
| 770 | Myasthenia, congenital, 12, with tubular aggregates (11.20) | ||
| 771 | Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 772 | Myasthenic syndrome, congenital (11.19, 17.30) | ||
| 773 | Myasthenic syndrome, congenital associated with acetylcholine receptor deficiency (11.1, 11.5, 11.43) | ||
| 774 | Myasthenic syndrome, congenital, 10 (11.18, 17.29) | ||
| 775 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (11.19, 17.30) | ||
| 776 | Myasthenic syndrome, congenital, 13, with tubular aggregates (11.21) | DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | |
| 777 | Myasthenic syndrome, congenital, 14, with tubular aggregates (11.22) | ||
| 778 | Myasthenic syndrome, congenital, 15, without tubular aggregates (11.23) | ||
| 779 | Myasthenic syndrome, congenital, 16 (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 780 | Myasthenic syndrome, congenital, 1A, Slow-channel (11.1, 11.5, 11.43) | ||
| 781 | Myasthenic syndrome, congenital, 1B, Fast-channel (11.1, 11.5, 11.43) | ||
| 782 | Myasthenic Syndrome, Congenital, 21, Presynaptic (11.29) | ||
| 783 | Myasthenic syndrome, congenital, 22 (11.30) | ||
| 784 | Myasthenic syndrome, congenital, 2A, Slow-channel (11.2, 11.9, 11.6) | ||
| 785 | Myasthenic syndrome, congenital, 2B, Fast-channel (11.2, 11.9, 11.6) | ||
| 786 | Myasthenic syndrome, congenital, 3B, Fast-channel (11.3, 11.7, 11.10) | ||
| 787 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (11.4, 11.8, 11.11) | ||
| 788 | Myasthenic syndrome, congenital, 5 (11.12) | ||
| 789 | Myasthenic syndrome, congenital, 6, presynaptic (11.13) | ||
| 790 | Myasthenic syndrome, congenital, 7, presynaptic and distal motor neuropathy, autosomal dominant (11.14, 12.46, 11.15) | ||
| 791 | Myasthenic syndrome, congenital, 7B, presynaptic (11.14, 12.46, 11.15) | ||
| 792 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (11.17, 17.28) | ||
| 793 | Myasthenic syndrome, congenital, Ie, included (11.2, 11.9, 11.6) | ||
| 794 | Myasthenic syndrome, fast-channel congenital (11.1, 11.5, 11.43) | ||
| 795 | Myasthenic syndrome, fast-channel congenital (11.4, 11.8, 11.11) | ||
| 796 | Myasthenic syndrome, fast-channel congenital (11.3, 11.7, 11.10) | ||
| 797 | Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.14, 12.46, 11.15) | ||
| 798 | Myasthenic syndrome, slow-channel congenital (11.2, 11.9, 11.6) | ||
| 799 | Myasthenic syndrome, slow-channel congenital (11.3, 11.7, 11.10) | ||
| 800 | Myasthenic syndrome, slow-channel congenital (11.1, 11.5, 11.43) | ||
| 801 | Myasthenic syndrome, slow-channel congenital (11.4, 11.8, 11.11) | ||
| 802 | Myasthenic syndrome, with plectin defect (5.29, 1.35, 11.36, 1.58) | ||
| 803 | Myoclonus-dystonia syndrome (17.2) | ||
| 804 | Myofibrillar myopathy 1 (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 805 | Myofibrillar myopathy 10 (5.11) | ||
| 806 | Myofibrillar myopathy 11 (5.12) | ||
| 807 | myofibrillar myopathy with bag3 defect (5.7, 10.71, 14.76) | ||
| 808 | myofibrillar myopathy ZASP-related (5.5, 10.41, 4.19, 10.26, 10.106) | ||
| 809 | Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.72, 14.79) | ||
| 810 | Myofibrillar myopathy, myotilin related (5.3, 5.4, 4.16) | ||
| 811 | Myopathy centronuclear, 1 (3.17, 2.15, 4.20, 14.15, 12.95) | ||
| 812 | Myopathy distal, Tateyama type (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 813 | Myopathy due to CPT II deficiency (9.22) | ||
| 814 | Myopathy due to phosphoglycerate mutase deficiency (9.18) | ||
| 815 | Myopathy microfibrillar type 7 (5.8) | ||
| 816 | Myopathy with characteristic sarcoplasmic inclusions (5.43) | ||
| 817 | myopathy with deficiency of succinate dehydrogenase and aconitase (16.34) | ||
| 818 | Myopathy with early respiratory failure (3.54) | ||
| 819 | myopathy with exercise intolerance, swedish type (16.34) | ||
| 820 | Myopathy with extrapyramidal signs (5.44) | ||
| 821 | myopathy with lactic acidosis, hereditary (16.34) | ||
| 822 | Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis (9.12) | ||
| 823 | Myopathy with nemaline bodies ( | ||
| 824 | Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 11.41) | ||
| 825 | Myopathy, cardiomyopathy and congenital myasthenic syndrome (5.1, 10.46, 5.15, 10.135, 11.44) | ||
| 826 | Myopathy, congenital, progressive with scoliosis (3.53) | ||
| 827 | Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies (3.51) | ||
| 828 | Myopathy, congenital, With excess of muscle spindles (3.40) | ||
| 829 | myopathy, congenital, with fiber-type disproportion (3.2, 3.35, 3.1, 2.46) | ||
| 830 | myopathy, congenital, with fiber-type disproportion (2.13, 5.13) | ||
| 831 | myopathy, congenital, with fiber-type disproportion (10.9) | ||
| 832 | myopathy, congenital, with fiber-type disproportion (8.1, 3.25, 3.26, 3.22, 5.39, 3.24, 2.51, 17.32, 3.58) | ||
| 833 | Myopathy, congenital, with malignant hyperthermia susceptibility (3.46, 3.47) | ||
| 834 | Myopathy, Congenital, With Neuropathy And Deafness (12.119) | ||
| 835 | Myopathy, distal 1 (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 836 | Myopathy, Distal 3 (4.7, 12.74, 3.34) | ||
| 837 | Myopathy, distal 6, Adult-onset (10.64, 10.25, 3.43, 4.10) | ||
| 838 | Myopathy, distal, 4 (5.6, 4.8, 10.28, 10.100) | ||
| 839 | Myopathy, distal, 5 (4.9) | ||
| 840 | Myopathy, distal, 7 adult onset, X-linked (4.11) | ||
| 841 | Myopathy, distal, with rimmed vacuoles (12.88, 4.23, 4.15) | ||
| 842 | Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.23) | ||
| 843 | Myopathy, mitochondrial and cerebellar ataxia (13.106, 2.50, 16.29) | ||
| 844 | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (16.33) | ||
| 845 | Myopathy, myofibrillar, 2 (5.2, 10.72, 14.79) | ||
| 846 | Myopathy, myofibrillar, filamin C-related (5.6, 4.8, 10.28, 10.100) | ||
| 847 | Myopathy, myosin storage, autosomal dominant (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 848 | Myopathy, reducing body, X-linked, childhood-onset (1.7, 5.33, 5.34, 5.35) | ||
| 849 | Myopathy, reducing body, X-linked, severe early-onset (1.7, 5.33, 5.34, 5.35) | ||
| 850 | Myopathy, X-linked, with excessive autophagy (5.18) | ||
| 851 | myosclerosis, autosomal recessive (2.5, 2.4, 2.7, 2.12, 2.3) | ||
| 852 | Myosin storage myopathy (4.6, 3.30, 10.56, 3.32, 10.108, 3.31) | ||
| 853 | Myosin, heavy chain, perinatal (17.19) | ||
| 854 | Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2) | ||
| 855 | Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2) | ||
| 856 | Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 857 | Myotonia recessive (7.1, 6.3, 6.4, 7.2) | ||
| 858 | Myotonic dystrophy 1 (6.1) | ||
| 859 | Myotonic dystrophy, type 2 (6.2) | ||
| 860 | Myotubular myopathy, X-linked (3.16) | ||
| 861 | Myxomatous valvular dystrophy, X-ninked (10.114) | ||
| 862 | naxos disease (10.134, 10.125) | ||
| 863 | Nemalin myopathy with distal arthrogryposis (17.13, 3.15) | ||
| 864 | Nemaline myopathy (3.9) | ||
| 865 | Nemaline myopathy (3.11) | ||
| 866 | Nemaline myopathy (3.12) | ||
| 867 | Nemaline myopathy (10.74, 3.13, 10.24, 10.99) | ||
| 868 | Nemaline myopathy 1, autosomal dominant (3.3, 3.4) | ||
| 869 | Nemaline myopathy 2, autosomal recessive (3.5, 4.17, 4.18) | ||
| 870 | Nemaline myopathy 3 (3.2, 3.35, 3.1, 2.46) | ||
| 871 | Nemaline myopathy 4 (3.6, 17.9, 17.15) | ||
| 872 | Nemaline myopathy 5 (3.7) | ||
| 873 | Nemaline myopathy 6 (3.8) | ||
| 874 | Nemaline Myopathy with
Cardiomyopathy (3.14) | ||
| 875 | Nesprin-2 related muscular dystrophy (1.6) | ||
| 876 | Neurodegeneration with brain iron accumulation 4 (15.46) | ||
| 877 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures (12.117) | ||
| 878 | Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies (17.27) | ||
| 879 | Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (14.142) | ||
| 880 | Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy and Epilepsy (13.109) | ||
| 881 | Neurological impairment (13.55) | ||
| 882 | Neuromuscular disorder, congenital, with dysmorphic facies (5.16) | ||
| 883 | Neuromyotonia and axonal neuropathy, autosomal recessive (14.88, 12.21) | ||
| 884 | Neuronal intranuclear inclusion diseases (14.140, 5.24, 14.78) | ||
| 885 | Neuronopathy, Distal hereditary motor related to HINT1 (14.88, 12.21) | ||
| 886 | Neuronopathy, distal hereditary motor, autosomal dominant 10 (12.32) | ||
| 887 | Neuronopathy, distal hereditary motor, autosomal dominant 12 (15.14, 12.34, 12.10) | ||
| 888 | Neuronopathy, distal hereditary motor, autosomal dominant 13 (15.9, 12.35) | ||
| 889 | Neuronopathy, distal hereditary motor, autosomal dominant 14 (12.36, 12.85) | ||
| 890 | Neuronopathy, distal hereditary motor, autosomal recessive 10 (12.104, 14.138, 12.14) | ||
| 891 | Neuronopathy, distal hereditary motor, type I (12.23) | ? - (7q34-q36) | |
| 892 | neuronopathy, distal hereditary motor, type IIC (12.26) | ||
| 893 | Neuronopathy, distal hereditary motor, type IX (12.31) | ||
| 894 | Neuronopathy, distal hereditary motor, type VIIA, with vocal cord paralysis (Harper-Young) (11.28, 12.29) | ||
| 895 | Neuronopathy, distal hereditary motor, type VIII (12.30, 12.39, 14.51) | ||
| 896 | Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.41, 17.50, 13.108) | ||
| 897 | Neuropathy, congenital hypomyelinating, 1 (14.4, 14.29, 14.46) | ||
| 898 | Neuropathy, congenital hypomyelinating, 2 (14.2, 14.45, 14.56, 14.57, 14.30, 14.17) | ||
| 899 | Neuropathy, distal hereditary motor type V (14.52, 12.27) | ||
| 900 | Neuropathy, distal hereditary motor, autosomal recessive 6 (15.14, 12.34, 12.10) | ||
| 901 | Neuropathy, distal hereditary motor, autosomal recessive 9 (17.60, 12.13) | ||
| 902 | Neuropathy, distal hereditary motor, type II (14.59, 12.24, 4.27, 4.28) | ||
| 903 | Neuropathy, distal hereditary motor, type IIB (14.54, 12.25) | ||
| 904 | Neuropathy, distal hereditary motor, with pyramidal features (12.58, 13.95) | ||
| 905 | Neuropathy, hereditary motor and sensory, lom type (14.28) | ||
| 906 | Neuropathy, hereditary motor and sensory, Okinawa type (14.72, 15.60) | ||
| 907 | Neuropathy, hereditary motor and sensory, type VIB (12.105) | ||
| 908 | Neuropathy, hereditary motor, autosomal recessive 8 (14.101, 12.12) | ||
| 909 | Neuropathy, hereditary motor, with myopathic features (12.11) | ||
| 910 | neuropathy, hereditary sensory and autonomic type v (14.116) | ||
| 911 | Neuropathy, hereditary sensory and autonomic, type 1 (14.108, 12.81) | ||
| 912 | Neuropathy, hereditary sensory and autonomic, type IC (14.110) | ||
| 913 | neuropathy, hereditary sensory and autonomic, type iia (14.111) | ||
| 914 | Neuropathy, hereditary sensory and autonomic, type IID (14.113, 14.128) | ||
| 915 | Neuropathy, hereditary sensory and autonomic, type III (17.3, 14.114) | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
| 916 | Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay (15.52) | ||
| 917 | Neuropathy, hereditary sensory and autonomic, type VII (14.118, 14.129) | ||
| 918 | Neuropathy, hereditary sensory, type 1 (14.108, 12.81) | ||
| 919 | Neuropathy, hereditary sensory, type 1E (14.122) | ||
| 920 | Neuropathy, hereditary sensory, type ID (15.1, 14.121) | ||
| 921 | Neuropathy, hereditary sensory, type IIC (15.42, 14.124, 15.13) | ||
| 922 | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (14.139) | ||
| 923 | Neuropathy, motor predominant (12.80) | ||
| 924 | Neuropathy, recurrent, with pressure palsies (14.1, 14.44, 14.5, 14.6) | ||
| 925 | Neutral lipid storage disease without ichthyosis (9.31) | ||
| 926 | Nonaka myopathy (4.5) | ||
| 927 | Noncompaction of left ventricular myocardium, isolated (10.90, 10.103) | ||
| 928 | Oculopharyngeal muscular dystorphy (5.20) | ||
| 929 | Oculopharyngeal muscular dystrophy related to HNRNPA2B1 (5.38, 5.21) | ||
| 930 | Oculopharyngeal myopathy with leukoencephalopathy 1 (5.28, 5.27) | ||
| 931 | Oculopharyngodistal myopathy (14.140, 5.24, 14.78) | ||
| 932 | Oculopharyngodistal myopathy (5.28, 5.27) | ||
| 933 | Oculopharyngodistal myopathy 1 (5.22, 12.82) | ||
| 934 | Oculopharyngodistal myopathy 2 (5.23) | ||
| 935 | Oculopharyngodistal myopathy 4 (5.25) | ||
| 936 | Oculopharyngodistal myopathy 5 (5.26) | ||
| 937 | Olivopontocerebellar atrophy I (13.1) | ||
| 938 | Olivopontocerebellar atrophy II (13.2, 12.67) | ||
| 939 | Olivopontocerebellar atrophy III (13.7) | ||
| 940 | Paramyotonia congenita of Von Eulenburg (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 941 | patient with HCM and isolated respiratory complex I deficiency (10.31) | ||
| 942 | Periodic paralysis, potassium-sensitive cardiodysrhythmic Andersen-Tawil syndrom (10.155, 10.166, 10.142) | ||
| 943 | Peripheral neuropathy and deafness, autosomal dominant (14.133) | ||
| 944 | Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (12.113, 14.102) | ||
| 945 | Peripheral neuropathy, myopathy, hoarseness and hearing loss (12.111) | ||
| 946 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (17.40) | ||
| 947 | Polyglucosan Body Myopathy 1 with or without immunodeficiency (9.10) | RBCK1 (20p13) RanBP-type and C3HC4-type zinc finger containing 1 (heme-oxidized IRP2 ubiquitin ligase 1) | |
| 948 | Polyglucosan Body Myopathy 2 (9.7, 9.11) | ||
| 949 | Polyneuropathy with erythromelalgia (14.130) | ||
| 950 | Pontocerebellar hypoplasia type 1 (12.104, 14.138, 12.14) | ||
| 951 | Pontocerebellar hypoplasia, type 1D (12.20) | ||
| 952 | posphoglycerate kinase deficiency (9.17) | ||
| 953 | Potassium-aggravated myotonia (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 954 | Presynaptic congenital myasthenic sydrome related to MUNC13-1 (11.39) | ||
| 955 | Presynaptic congenital myasthenic syndrome (11.38) | ||
| 956 | Presynaptic congenital myasthenic syndrome 23 (11.31) | SLC25A1 (22q11.21) Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1(M) | |
| 957 | Presynaptic congenital myasthenic syndrome 24 (11.32) | ||
| 958 | Presynaptic congenital myasthenic syndrome 25 (15.94, 11.33) | ||
| 959 | Primary lateral sclerosis, juvenile (12.56, 15.87) | ||
| 960 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (16.1, 13.98, 16.7, 16.16, 16.15) | ||
| 961 | Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal (13.60, 16.3) | ||
| 962 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (17.47, 16.5, 17.46) | ||
| 963 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal (16.2, 16.19, 16.18) | ||
| 964 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (16.6) | ||
| 965 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 (16.11) | ||
| 966 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (16.1, 13.98, 16.7, 16.16, 16.15) | ||
| 967 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2 (16.8) | ||
| 968 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 3 (16.13, 13.28, 16.9) | ||
| 969 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 4 (16.10, 16.14) | ||
| 970 | Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with deafness (16.21, 16.20) | ||
| 971 | progressive external ophthalmoplegia, autosomal dominant, 4 (16.4) | ||
| 972 | Progressive familial heart block, type I (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 973 | Progressive neuropathy (12.116) | ||
| 974 | Proximal myotonic myopathy (6.2) | ||
| 975 | PURA syndrome with neurmuscular junction manisfestations (11.45) | ||
| 976 | Reccurrent myoglobinuria, autosomal recessive (9.32) | ||
| 977 | Recessive neonatal isolated DC (10.70) | ||
| 978 | Refsum disease, adult (13.103) | ||
| 979 | Refsum disease, adult (13.104) | ||
| 980 | Restrictive cardiomyopathy, 2 (10.97) | ? - (10) | |
| 981 | Restrictive cardiomyopathy, 6 (10.101) | ||
| 982 | restrictive dermopathy (1.3, 1.4, 10.39, 2.17, 14.84) | ||
| 983 | Rhabdomyolysis (5.50, 17.43) | ||
| 984 | Rhabdomyolysis and exercise intolerance (17.42) | ||
| 985 | Rigid spince syndrome related to HMGCS1 (2.18) | ||
| 986 | Rigid spine syndrome (1.7, 5.33, 5.34, 5.35) | ||
| 987 | Rigid spine syndrome (2.13, 5.13) | ||
| 988 | Rigid spine syndrome related to FHL1 (1.7, 5.33, 5.34, 5.35) | ||
| 989 | Rigid spine syndrome related to SEPN1 (2.13, 5.13) | ||
| 990 | Rimmed vacuole myopathy (14.59, 12.24, 4.27, 4.28) | ||
| 991 | Rippling muscle disease (1.21, 6.6, 5.32, 6.7, 4.12, 10.144, 10.16) | ||
| 992 | Rippling muscle disease, dominant (6.5) | ? - (1q41) | |
| 993 | Romano-Ward syndrome (10.156, 10.136, 10.160, 10.154) | ||
| 994 | Scapuloperoneal muscular dystrophy and dropped head syndrome (5.37, 4.22, 12.68, 1.57, 14.67) | ||
| 995 | Scapuloperoneal myopathy, X-linked dominant (1.7, 5.33, 5.34, 5.35) | ||
| 996 | Scapuloperoneal spinal muscular atrophy (12.30, 12.39, 14.51) | ||
| 997 | Schwartz-Jampel syndrome, type 1 (6.8) | ||
| 998 | Segmental amyoplasia with Distal Arthrogryposis (17.39) | ||
| 999 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (16.1, 13.98, 16.7, 16.16, 16.15) | ||
| 1000 | Sensory-motor neuropathy with oculofacial apraxia (12.48) | ||
| 1001 | Severe autosomal-recessive nemaline myopathy (3.10) | ||
| 1002 | Severe foetal hypokinesia related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 1003 | Short qt syndrome 1 (10.137, 10.153) | ||
| 1004 | Sick Sinus Syndrome 1, autosomal recessive (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 1005 | Sick Sinus Syndrome 2, autosomal dominant (10.188, 10.184) | ||
| 1006 | Sick sinus syndrome 3 (10.1, 10.68, 10.13, 10.189) | ||
| 1007 | Sjogren-Larsson syndrome (15.86) | ||
| 1008 | Slowed nerve conduction velocity, autosomal dominant (14.13) | ||
| 1009 | Sodium-channel myasthenia (7.3, 7.6, 7.4, 7.7, 11.24, 3.55, 17.34, 3.56) | ||
| 1010 | Sorbitol dehydrogenase deficiency with peripheral neuropathy (14.101, 12.12) | ||
| 1011 | Spastic ataxia 10, autosomal recessive (17.59, 15.102) | ||
| 1012 | Spastic ataxia 4 autosomal recessive (15.97) | ||
| 1013 | Spastic ataxia 5 autosomal recessive (13.25, 15.98) | ||
| 1014 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy (15.100) | ||
| 1015 | Spastic ataxia 9, autosomal recessive (15.101) | ||
| 1016 | Spastic ataxia Charlevoix-Saguenay type (15.99, 13.102, 14.100) | ||
| 1017 | Spastic ataxia, Charlevoix-Saguenay type (15.99, 13.102, 14.100) | ||
| 1018 | Spastic paralysis, infantile onset ascending (12.56, 15.87) | ||
| 1019 | Spastic paraplegia 2 (15.91) | ||
| 1020 | Spastic paraplegia 4 (15.2) | ||
| 1021 | Spastic paraplegia 5A (15.27) | ||
| 1022 | Spastic paraplegia 6 uncomplicated,autosomal dominant,Strumpell-Lorrain type (15.3) | ||
| 1023 | Spastic paraplegia 7 (15.28) | ||
| 1024 | Spastic paraplegia 8 (15.4) | ||
| 1025 | Spastic paraplegia 9 (15.5, 15.29) | ||
| 1026 | Spastic paraplegia 10 (15.6, 14.74, 12.79, 1.23) | ||
| 1027 | Spastic paraplegia 11 (15.30, 12.59, 14.96) | ||
| 1028 | Spastic paraplegia 12 (15.7, 12.15) | ||
| 1029 | Spastic paraplegia 13 (15.8) | ||
| 1030 | Spastic paraplegia 14 (15.31) | ? - (3q27-q28) | |
| 1031 | Spastic paraplegia 15 (15.32) | ||
| 1032 | Spastic paraplegia 16 (15.92) | ? - (Xq11.2-q23) | |
| 1033 | Spastic paraplegia 17 (15.9, 12.35) | ||
| 1034 | Spastic paraplegia 18 (15.33) | ||
| 1035 | Spastic paraplegia 18A7, autosomal dominant (15.33) | ||
| 1036 | Spastic paraplegia 19 (15.11) | ? - (9q33-q34) | |
| 1037 | Spastic paraplegia 20 (15.34) | ||
| 1038 | Spastic paraplegia 20 (15.35) | ||
| 1039 | Spastic paraplegia 20 (15.41) | ||
| 1040 | Spastic paraplegia 23 (15.36) | ? - (1q24-q32) | |
| 1041 | Spastic paraplegia 24 (15.37) | ? - (13q14) | |
| 1042 | Spastic paraplegia 25 (15.38) | ? - (6q23.3-q24.1) | |
| 1043 | Spastic paraplegia 26 (15.39, 14.103) | ||
| 1044 | Spastic paraplegia 27 (15.40) | ? - (10q22.1-q24.1) | |
| 1045 | Spastic paraplegia 29 (15.12) | ? - (1p31-p21) | |
| 1046 | Spastic paraplegia 3, autosomal dominant (Strumpell disease) (15.1, 14.121) | ||
| 1047 | Spastic paraplegia 30 (15.42, 14.124, 15.13) | ||
| 1048 | Spastic paraplegia 31 (15.14, 12.34, 12.10) | ||
| 1049 | spastic paraplegia 32, autosomal recessive (15.43) | ? - (14q12-q21) | |
| 1050 | Spastic paraplegia 33 (15.15) | ||
| 1051 | Spastic paraplegia 34, X-linked (15.93) | ? - (Xq24-q25) | |
| 1052 | Spastic paraplegia 35, autosomal recessive (15.44) | ||
| 1053 | Spastic paraplegia 36, autosomal dominant (15.16) | ? - (12q23-q24) | |
| 1054 | Spastic paraplegia 37, autosomal dominant (15.17) | ? - (8p21.1-q13.3) | |
| 1055 | Spastic paraplegia 38, autosomal dominant (15.18) | ? - (4p16-p15) | |
| 1056 | Spastic paraplegia 39, autosomal recessive (15.45) | ||
| 1057 | Spastic paraplegia 41, autosomal dominant (15.19) | ? - (11p14.1-p11.2) | |
| 1058 | Spastic paraplegia 42, autosomal dominant (15.20) | ||
| 1059 | Spastic paraplegia 43, autosomal recessive (15.46) | ||
| 1060 | Spastic paraplegia 44, autosomal recessive (15.47) | ||
| 1061 | Spastic paraplegia 45, autosomal recessive (15.48) | ||
| 1062 | Spastic paraplegia 46, autosomal recessive (15.49) | ||
| 1063 | Spastic paraplegia 47, autosomal recessive (15.50) | ||
| 1064 | Spastic paraplegia 48, autosomal recessive (15.51) | ||
| 1065 | Spastic paraplegia 49, autosomal recessive (15.52) | ||
| 1066 | Spastic paraplegia 50, autosomal recessive (15.53) | ||
| 1067 | Spastic paraplegia 51, autosomal recessive (15.54) | ||
| 1068 | Spastic paraplegia 52, autosomal recessive (15.55) | ||
| 1069 | Spastic paraplegia 53, autosomal recessive (15.56) | ||
| 1070 | Spastic paraplegia 54, autosomal recessive (15.57) | ||
| 1071 | Spastic paraplegia 55, autosomal recessive (15.58) | ||
| 1072 | Spastic paraplegia 56, autosomal recessive (15.59) | ||
| 1073 | Spastic paraplegia 57, autosomal recessive (14.72, 15.60) | ||
| 1074 | Spastic paraplegia 61, autosomal recessive (15.61) | ||
| 1075 | Spastic paraplegia 62 autosomal recessive (15.62) | ||
| 1076 | Spastic paraplegia 63, autosomal recessive (15.63) | ||
| 1077 | Spastic paraplegia 64, autosomal recessive (15.64) | ||
| 1078 | Spastic paraplegia 70, autosomal recessive (14.64, 15.65) | ||
| 1079 | Spastic paraplegia 72, autosomal dominant (15.66, 15.21) | ||
| 1080 | Spastic paraplegia 72, autosomal recessive (15.66, 15.21) | ||
| 1081 | Spastic paraplegia 73, autosomal dominant (15.22) | ||
| 1082 | Spastic paraplegia 74, autosomal recessive (15.67) | ||
| 1083 | Spastic paraplegia 75, autosomal recessive (15.68) | ||
| 1084 | Spastic paraplegia 76, autosomal recessive (15.69, 12.22) | ||
| 1085 | Spastic paraplegia 77, autosomal recessive (15.70) | ||
| 1086 | Spastic paraplegia 78, autosomal recessive (15.71) | ||
| 1087 | Spastic paraplegia 79, autosomal dominant (15.72, 14.80) | ||
| 1088 | Spastic paraplegia 79, autosomal recessive (15.72, 14.80) | ||
| 1089 | Spastic paraplegia 80, autosomal dominant (15.24) | ||
| 1090 | Spastic paraplegia 81, autosomal recessive (15.73) | ||
| 1091 | Spastic paraplegia 82, autosomal recessive (15.74) | ||
| 1092 | Spastic paraplegia 83, autosomal recessive (15.75) | ||
| 1093 | Spastic paraplegia 84, autosomal recessive (15.76) | ||
| 1094 | Spastic paraplegia 85, autosomal recessive (15.77) | ||
| 1095 | Spastic paraplegia 86, autosomal recessive (15.78) | ||
| 1096 | Spastic paraplegia 87, autosomal recessive (15.79) | ||
| 1097 | Spastic paraplegia 88, autosomal dominant (15.80) | ||
| 1098 | Spastic paraplegia 89, autosomal recessive (15.81) | ||
| 1099 | Spastic paraplegia 90B, autosomal recessive (15.82) | ||
| 1100 | Spastic paraplegia 91, autosomal recessive, with or without cerebellar ataxia (12.33, 15.83, 4.30) | ||
| 1101 | Spastic paraplegia 92, autosomal recessive (15.84) | ||
| 1102 | Spastic paraplegia 93, autosomal recessive (15.85) | ||
| 1103 | Spastic paraplegia 9A, autosomal recessive (15.5, 15.29) | ||
| 1104 | Spastic paraplegia and psychomotor retardation with or without seizures (15.89) | ||
| 1105 | Spastic paraplegia, intellectual disability, nystagmus, and obesity (15.26) | ||
| 1106 | Spastic paraplegia, optic atrophy, and neuropathy (15.88) | ||
| 1107 | Spectraplakinopathy (17.35) | ||
| 1108 | Spheroid body myopathy (5.3, 5.4, 4.16) | ||
| 1109 | Spinal and bulbar muscular atrophy of Kennedy (12.50) | ||
| 1110 | Spinal motor neuropathy (12.40) | ||
| 1111 | Spinal muscular atrophy 1 (12.1, 12.3, 12.2, 12.4) | ||
| 1112 | Spinal muscular atrophy 2 (12.1, 12.3, 12.2, 12.4) | ||
| 1113 | Spinal muscular atrophy 3 (12.1, 12.3, 12.2, 12.4) | ||
| 1114 | Spinal muscular atrophy 4 (12.1, 12.3, 12.2, 12.4) | ||
| 1115 | Spinal muscular atrophy and cerebellar hypoplasia (12.19) | ||
| 1116 | Spinal muscular atrophy congenital non progressive of lower limbs (12.30, 12.39, 14.51) | ||
| 1117 | Spinal Muscular Atrophy type IV related to CAPN1 (15.69, 12.22) | ||
| 1118 | Spinal muscular atrophy with congenital bone fractures 1 (2.48, 12.16) | ||
| 1119 | Spinal muscular atrophy with congenital bone fractures 2 (12.17, 17.25) | ||
| 1120 | Spinal muscular atrophy with pontocerebellar hypoplasia related to KIF26B (12.110) | ||
| 1121 | Spinal muscular atrophy with pontocerebellar hypoplasia, type 1b (12.103) | ||
| 1122 | Spinal muscular atrophy with progressive myoclonic epilepsy (12.18) | ||
| 1123 | Spinal muscular atrophy with respiratory distress (12.5, 14.94) | ||
| 1124 | Spinal muscular atrophy with respiratory distress (SMARD) (12.53) | ||
| 1125 | Spinal muscular atrophy, congenital benin, with contractures (12.30, 12.39, 14.51) | ||
| 1126 | Spinal muscular atrophy, distal related to DNAJB2 (12.9, 14.87) | ||
| 1127 | Spinal muscular atrophy, distal, autosomal recessive (12.104, 14.138, 12.14) | ||
| 1128 | spinal muscular atrophy, distal, autosomal recessive, 2 (12.6, 12.70) | ||
| 1129 | spinal muscular atrophy, distal, autosomal recessive, 3 (12.7) | ? - (11q13) | |
| 1130 | spinal muscular atrophy, distal, autosomal recessive, 4 (12.8, 14.91) | ||
| 1131 | Spinal muscular atrophy, distal, autosomal recessive, 5 (12.9, 14.87) | ||
| 1132 | Spinal muscular atrophy, distal, type V (14.52, 12.27) | ||
| 1133 | Spinal muscular atrophy, distal, x-linked 3 (12.52) | ||
| 1134 | Spinal muscular atrophy, distal, X-linked, 2 (12.51) | ||
| 1135 | Spinal muscular atrophy, distal, Xlinked, related to UBA1 (12.51) | ||
| 1136 | Spinal muscular atrophy, late-onset, Finkel type (12.62, 12.44) | ||
| 1137 | Spinal muscular atrophy, lower extremity-predominant, autosomal dominant 2B (12.42, 12.43, 17.24) | ||
| 1138 | Spinal muscular atrophy, lower extremity, autosomal dominant (14.61, 12.41) | ||
| 1139 | Spinal muscular atrophy, lower extremity, autosomal dominant 2 (12.42, 12.43, 17.24) | ||
| 1140 | Spinal muscular atrophy, related to PRUNE1 (12.109) | ||
| 1141 | Spinobulbar muscular atrophy (SBMA)
(12.86, 12.118) | ||
| 1142 | Spinocerebellar ataxia (13.91) | ||
| 1143 | Spinocerebellar ataxia (13.89) | ||
| 1144 | Spinocerebellar ataxia 1 (13.1) | ||
| 1145 | Spinocerebellar ataxia 2 (13.2, 12.67) | ||
| 1146 | Spinocerebellar ataxia 3 (13.3) | ||
| 1147 | Spinocerebellar ataxia 4 (13.4) | ? - (16q22.1) | |
| 1148 | Spinocerebellar ataxia 5 (13.5, 13.74) | ||
| 1149 | Spinocerebellar ataxia 6 (7.9, 13.6, 13.54, 7.10, 13.48) | ||
| 1150 | Spinocerebellar ataxia 7 (13.7) | ||
| 1151 | Spinocerebellar ataxia 8 (13.8) | ||
| 1152 | Spinocerebellar ataxia 10 (13.9) | ||
| 1153 | Spinocerebellar ataxia 11 (13.10) | ||
| 1154 | Spinocerebellar ataxia 12 (13.11) | ||
| 1155 | Spinocerebellar ataxia 13 (13.12) | ||
| 1156 | Spinocerebellar ataxia 14 (13.13) | ||
| 1157 | Spinocerebellar ataxia 15 (13.14) | ||
| 1158 | Spinocerebellar ataxia 17 (13.15) | ||
| 1159 | Spinocerebellar ataxia 18 (13.16) | ||
| 1160 | Spinocerebellar ataxia 19 (13.19) | ||
| 1161 | Spinocerebellar ataxia 19 (13.17, 10.185) | ||
| 1162 | Spinocerebellar ataxia 20 (13.18) | ? - (11q12.2-11q12.3) | |
| 1163 | Spinocerebellar ataxia 21 (13.20) | ? - (1p21-q23) | |
| 1164 | Spinocerebellar ataxia 23 (13.21) | ||
| 1165 | Spinocerebellar ataxia 25 (13.22) | ||
| 1166 | Spinocerebellar ataxia 26 (13.23) | ||
| 1167 | Spinocerebellar ataxia 27 (13.24) | ||
| 1168 | Spinocerebellar ataxia 28 (13.25, 15.98) | ||
| 1169 | Spinocerebellar ataxia 30 (13.27) | ? - (4q34.3-q35.1) | |
| 1170 | Spinocerebellar ataxia 31 (13.32) | ||
| 1171 | Spinocerebellar ataxia 32 (13.29) | ? - (7q32-q33) | |
| 1172 | Spinocerebellar ataxia 34 (13.30) | ||
| 1173 | Spinocerebellar ataxia 35 (13.31) | ||
| 1174 | Spinocerebellar ataxia 37 (13.33) | ? - (1p32) | |
| 1175 | Spinocerebellar ataxia 38 (13.34) | ||
| 1176 | Spinocerebellar ataxia 40 (13.35) | ||
| 1177 | Spinocerebellar ataxia 41 (13.36) | ||
| 1178 | Spinocerebellar ataxia 42 (13.37, 13.38) | ||
| 1179 | Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits (13.37, 13.38) | ||
| 1180 | Spinocerebellar ataxia 44 (13.40, 13.73) | ||
| 1181 | Spinocerebellar ataxia 45 (13.41) | ||
| 1182 | Spinocerebellar ataxia 46 (13.42) | ||
| 1183 | Spinocerebellar ataxia 47 (13.43) | ||
| 1184 | Spinocerebellar ataxia 48 (13.76, 13.44) | ||
| 1185 | Spinocerebellar ataxia 49 (13.56, 13.45) | ||
| 1186 | Spinocerebellar ataxia 50 (13.46) | ||
| 1187 | Spinocerebellar ataxia 51 (13.47) | ||
| 1188 | Spinocerebellar ataxia with axonal neuropathy type 2 (12.58, 13.95) | ||
| 1189 | Spinocerebellar ataxia with axonal neuropathy type 3 (13.96) | ||
| 1190 | spinocerebellar ataxia with epilepsy, included (16.1, 13.98, 16.7, 16.16, 16.15) | ||
| 1191 | spinocerebellar ataxia-31 (13.28) | ||
| 1192 | Spinocerebellar ataxia, autosomal recessive 1 (12.58, 13.95) | ||
| 1193 | Spinocerebellar ataxia, autosomal recessive 10 (13.70) | ||
| 1194 | Spinocerebellar ataxia, autosomal recessive 11 (13.71) | ||
| 1195 | Spinocerebellar ataxia, autosomal recessive 12 (13.72) | ||
| 1196 | Spinocerebellar ataxia, autosomal recessive 13 (13.40, 13.73) | ||
| 1197 | Spinocerebellar ataxia, autosomal recessive 14 (13.5, 13.74) | ||
| 1198 | Spinocerebellar ataxia, autosomal recessive 15 (13.75) | ||
| 1199 | Spinocerebellar ataxia, autosomal recessive 16 (13.76, 13.44) | ||
| 1200 | Spinocerebellar ataxia, autosomal recessive 17 (13.77) | ||
| 1201 | Spinocerebellar ataxia, autosomal recessive 18 (13.78) | ||
| 1202 | Spinocerebellar ataxia, autosomal recessive 19 (13.79) | ||
| 1203 | Spinocerebellar ataxia, autosomal recessive 20 (13.80) | ||
| 1204 | Spinocerebellar ataxia, autosomal recessive 21 (13.81) | ||
| 1205 | Spinocerebellar ataxia, autosomal recessive 22 (13.82) | ||
| 1206 | Spinocerebellar ataxia, autosomal recessive 23 (13.83) | ||
| 1207 | Spinocerebellar ataxia, autosomal recessive 24 (13.84) | ||
| 1208 | Spinocerebellar ataxia, autosomal recessive 25 (13.85) | ||
| 1209 | Spinocerebellar ataxia, autosomal recessive 26 (13.86) | ||
| 1210 | Spinocerebellar ataxia, autosomal recessive 27 (13.87) | ||
| 1211 | Spinocerebellar ataxia, autosomal recessive 28 (13.88) | ||
| 1212 | Spinocerebellar ataxia, autosomal recessive 3 (13.63) | ? - (6p23-p21) | |
| 1213 | Spinocerebellar ataxia, autosomal recessive 30 (13.90) | ||
| 1214 | Spinocerebellar ataxia, autosomal recessive 32 (13.92) | ||
| 1215 | Spinocerebellar ataxia, autosomal recessive 33 ( | ||
| 1216 | Spinocerebellar ataxia, autosomal recessive 34 (13.30, 13.93) | ||
| 1217 | Spinocerebellar ataxia, autosomal recessive 4 (13.64) | ||
| 1218 | Spinocerebellar ataxia, autosomal recessive 6 (13.66) | ? - (20q11-q13) | |
| 1219 | Spinocerebellar ataxia, autosomal recessive 7 (13.67) | ||
| 1220 | Spinocerebellar ataxia, autosomal recessive 8 (1.5, 13.68, 17.23, 10.92) | ||
| 1221 | spinocerebellar ataxia, autosomal recessive 9 (13.69, 17.56) | ||
| 1222 | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy (13.94) | ||
| 1223 | Spinocerebellar ataxia, infantile-onset, with sensory neuropathy (13.60, 16.3) | ||
| 1224 | Spinocerebellar Ataxia, type 43 (14.95, 13.39) | ||
| 1225 | Steinert disease (6.1) | ||
| 1226 | Susceptibility to amyotrophic lateral sclerosis related to dynactin 1 (12.36, 12.85) | ||
| 1227 | Susceptibility to amyotrophic lateral sclerosis related to NEFH (12.83, 14.69) | ||
| 1228 | Susceptibility to amyotrophic lateral sclerosis related to peripherin (12.84) | ||
| 1229 | Thyrotoxic periodic paralysis, susceptibility to, 2 (7.13) | ||
| 1230 | Tibial muscular dystrophy, tardive (5.10, 3.23, 4.4, 1.33, 10.44, 10.8, 3.36, 3.27, 12.102, 3.37) | ||
| 1231 | Timothy syndrome (10.143, 10.179) | ||
| 1232 | Torsion dystonia, early onset (17.1) | ||
| 1233 | Tubular aggregate myopathy 1 (5.40, 5.45) | ||
| 1234 | Tubular aggregate myopathy 2 (5.41) | ||
| 1235 | Ullrich congenital muscular dystrophy (2.2, 2.6) | ||
| 1236 | Ullrich congenital muscular dystrophy (2.8, 2.4) | ||
| 1237 | Ullrich congenital muscular dystrophy 2 (2.9, 2.10, 2.11) | ||
| 1238 | Ullrich scleroatonic muscular dystrophy (2.5, 2.4, 2.7, 2.12, 2.3) | ||
| 1239 | Vacuolar Myopathy (5.50, 17.43) | ||
| 1240 | Vacuolar myopathy with CASQ1 aggregates (5.42) | ||
| 1241 | Ventricular fibrillation, idiopathic (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 1242 | Ventricular fibrillation, paroxysmal familial (10.138, 10.43, 10.177, 10.187, 10.167) | ||
| 1243 | ventricular tachycardia, catecholaminergic polymorphi (10.129) | ||
| 1244 | Ventricular tachycardia, catecholaminergic polymorphic (10.116, 10.128) | ||
| 1245 | Ventricular tachycardia, catecholaminergic polymorphic 6 (10.151, 10.133) | ||
| 1246 | Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.130) | ||
| 1247 | Ventricular tachycardia, catecholaminergic polymorphic, recessive (10.131, 10.149) | ||
| 1248 | Ventricular tachycardia, stress-induced polymorphic (10.116, 10.128) | ||
| 1249 | Vocal cord and pharyngeal distal myopathy (4.13, 12.75) | ||
| 1250 | Walker-Warburg syndrome (2.19, 1.44, 2.33) | ||
| 1251 | Walker-Warburg syndrome ( | ||
| 1252 | Walker-Warburg syndrome (2.36, 2.22, 10.61) | ||
| 1253 | Walker-Warburg syndrome (1.48, 2.23, 2.37) | ||
| 1254 | Walker-Warburg syndrome (2.20, 2.34, 1.45) | ||
| 1255 | Walker-Warburg syndrome (2.26, 1.50) | ||
| 1256 | Walker-Warburg syndrome (WWS) (2.31) | ||
| 1257 | Walker-Warburg syndrome (WWS) (2.25, 1.49) | ||
| 1258 | Welander distal myopathy (4.14, 4.15) | ||
| 1259 | Welander-like distal myopathy (12.88, 4.23, 4.15) | ||
| 1260 | Wieacker-Wolff syndrome (5.46) | ||
| 1261 | X-linked myopathy with postural muscle atrophy (1.7, 5.33, 5.34, 5.35) |