Disease phenotype | OMIM | Gene symbol (chromosome) protein | |
| 1 | Absence of pain, Congenital (14.107) | ||
| 2 | ACAD9-deficient mild myopathy (9.25) | ||
| 3 | Acetazolamide-responsive hereditary paroxymal cerebellar ataxia (7.9, 13.6, 13.50, 7.10, 13.45) | ||
| 4 | Acyl-CoA dehydrogenase (very long chain) deficiency (9.24) | ||
| 5 | Adolescent onset distal myopathy (4.18) | ||
| 6 | Adult onset distal myopathy (4.6) | ? - (8p22-q11)   | |
| 7 | Agenesis of the corpus callosum with peripheral neuropathy (14.109) | ||
| 8 | Aldehyde dehydrogenase, family 3, subfamily A, member 2 (15.68) | ||
| 9 | Amyotrophic lateral sclerosis (12.45) | ? - (18q21) | |
| 10 | Amyotrophic lateral sclerosis (12.50, 12.35) | ||
| 11 | Amyotrophic lateral sclerosis (12.49) | ? - (20p13) | |
| 12 | Amyotrophic lateral sclerosis (12.48) | ||
| 13 | Amyotrophic lateral sclerosis 1 (12.42, 12.43) | ||
| 14 | amyotrophic lateral sclerosis 10 (12.52) | ||
| 15 | Amyotrophic lateral sclerosis 11 (14.31, 12.53) | ||
| 16 | Amyotrophic lateral sclerosis 12 (12.54) | ||
| 17 | Amyotrophic lateral sclerosis 13 (13.2, 12.55) | ||
| 18 | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (5.27, 4.17, 12.56, 1.57, 14.63) | ||
| 19 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia (12.57) | ||
| 20 | Amyotrophic lateral sclerosis 16, juvenile (12.6, 12.58) | ||
| 21 | Amyotrophic lateral sclerosis 17 (12.59) | ||
| 22 | Amyotrophic lateral sclerosis 18 (12.60) | ||
| 23 | Amyotrophic lateral sclerosis 19 (12.61) | ||
| 24 | Amyotrophic lateral sclerosis 20 (3.38, 12.62) | ||
| 25 | Amyotrophic lateral sclerosis 22 (12.64) | ||
| 26 | Amyotrophic lateral sclerosis 25, susceptibility to (15.6, 14.69, 12.67) | ||
| 27 | Amyotrophic lateral sclerosis 5 (15.26, 12.47, 14.85) | ||
| 28 | amyotrophic lateral sclerosis 9 (12.51) | ||
| 29 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.36, 12.72, 16.61) | ||
| 30 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.71) | ||
| 31 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.73, 4.19) | ||
| 32 | Amyotrophic lateral sclerosis and/or frontotemporal dementia (12.74) | ||
| 33 | Amyotrophic lateral sclerosis, due to SOD1 deficiency (12.42, 12.43) | ||
| 34 | Amyotrophic lateral sclerosis, juvenile (12.44, 15.69) | ||
| 35 | Amyotrophic lateral sclerosis, susceptibility to, 24 (12.66) | ||
| 36 | Amytrophic lateral sclerosis 23 (12.65) | ||
| 37 | Andermann syndrome (14.109) | ||
| 38 | Arrhythmogenic right ventricular cardiomyopathy 2 (10.104, 10.115) | ||
| 39 | Arrhythmogenic right ventricular cardiomyopathy 3 (10.105) | ? - (14q12-q22) | |
| 40 | Arrhythmogenic right ventricular cardiomyopathy 4 (10.106) | ? - (2q32.1-q32.3) | |
| 41 | Arrhythmogenic right ventricular cardiomyopathy 6 (10.108, 3.47) | ||
| 42 | Arrhythmogenic right ventricular dysplasia 2 (10.104, 10.115) | ||
| 43 | Arrhythmogenic right ventricular dysplasia with myofibrillar myopathy (5.1, 1.23, 10.44, 1.52, 5.13, 10.121) | ||
| 44 | Arrhythmogenic right ventricular dysplasia-3 (10.105) | ? - (14q12-q22) | |
| 45 | Arrhythmogenic right ventricular dysplasia, 1 (10.103) | ||
| 46 | Arrhythmogenic right ventricular dysplasia, 10 (10.111, 10.63) | ||
| 47 | Arrhythmogenic right ventricular dysplasia, 11 (10.112) | ||
| 48 | Arrhythmogenic right ventricular dysplasia, 8 (10.109) | ||
| 49 | Arrhythmogenic right ventricular dysplasia, 9 (10.110) | ||
| 50 | Arrhythmogenic right ventricular dysplasia, familial, 1 (10.103) | ||
| 51 | arrhythmogenic right ventricular dysplasia, familial, 12 (10.120, 10.113) | ||
| 52 | Arrhythmogenic right ventricular dysplasia, familial, 13 (10.114) | ||
| 53 | Arrhythmogenic right ventricular dysplasia, familial, 4 (10.106) | ? - (2q32.1-q32.3) | |
| 54 | arrhythmogenic right ventricular dysplasia, familial, 5 (10.107, 1.8) | ||
| 55 | Arrhythmogenic right ventricular dysplasia, familial, 6 (10.108, 3.47) | ||
| 56 | arrhythmogenic right ventricular dysplasia, familial, 7 ( | ? - (10q22) | |
| 57 | Arthrogryposis and BICD2-related neuromuscular disease (12.33, 12.34, 16.22) | ||
| 58 | Arthrogryposis and muscular dysplasia (16.23) | ||
| 59 | Arthrogryposis related to ASCC1 (12.12, 16.24) | ||
| 60 | Arthrogryposis, distal, type 1B (16.10) | ||
| 61 | Arthrogryposis, distal, type 3 (16.16, 16.17) | ||
| 62 | Arthrogryposis, distal, type 5 (16.16, 16.17) | ||
| 63 | Arthrogryposis, distal, type 10 (16.20) | ? - (2q31.3-q32.1 ) | |
| 64 | Arthrogryposis, distal, type 1A (3.4, 3.40, 16.9, 16.15) | ||
| 65 | Arthrogryposis, distal, type 2A (16.11, 16.14) | ||
| 66 | arthrogryposis, distal, type 2B (3.4, 3.40, 16.9, 16.15) | ||
| 67 | Arthrogryposis, distal, type 2B (16.12) | ||
| 68 | Arthrogryposis, distal, type 2B (16.13) | ||
| 69 | Arthrogryposis, distal, type 2B (16.11, 16.14) | ||
| 70 | Arthrogryposis, distal, type 5D (16.18) | ||
| 71 | Asymmetric septal hypertrophy (10.53, 10.10, 10.95) | ||
| 72 | ataxia telangiectasia (13.86) | ||
| 73 | ataxia telangiectasia-like disorder (13.87) | ||
| 74 | Ataxia telangiectasia-like disorder 2 (13.88) | ||
| 75 | Ataxia with isolated vitamin E deficiency (13.53) | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency)     | |
| 76 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (13.55) | ||
| 77 | Ataxia, Friedreich-like, with selective vitamin E deficiency (13.53) | TTPA (8q13.1-q13.3) Tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) | |
| 78 | Ataxia, posterior column, with retinitis pigmentosa (PCARP) (14.106) | ||
| 79 | ataxia, spastic, 1, autosomal dominant (15.76, 11.31) | ||
| 80 | ataxia, spastic, 2, autosomal recessive (15.77) | ||
| 81 | ATFB18 (10.160) | ||
| 82 | atrial fibillation, familial, 8 (10.149) | ? - (16q22) | |
| 83 | Atrial fibrillation , 12 (10.50, 10.154) | ||
| 84 | Atrial fibrillation, 1 (10.142) | ? - (10q22-q24) | |
| 85 | Atrial fibrillation, 10 (10.124, 10.41, 10.161, 10.171, 10.151) | ||
| 86 | Atrial fibrillation, 13 (10.165, 10.155) | ||
| 87 | Atrial fibrillation, 14 (10.156) | ||
| 88 | Atrial fibrillation, 15 (10.157) | ||
| 89 | Atrial fibrillation, 16 (10.167, 10.158) | ||
| 90 | Atrial fibrillation, 17 (10.131, 10.159) | ||
| 91 | Atrial fibrillation, 2 (10.143) | ? - (10q22-q24) | |
| 92 | Atrial fibrillation, 3 (10.140, 10.122, 10.144, 10.138) | ||
| 93 | Atrial fibrillation, 4 (10.127, 10.141, 10.145) | ||
| 94 | Atrial fibrillation, 9 (10.128, 10.139, 10.150) | ||
| 95 | atrial fibrillation, familial (10.148) | ||
| 96 | atrial fibrillation, familial, 1 (10.152, 10.153) | ||
| 97 | atrial fibrillation, familial, 5 (10.146) | ? - (4q25) | |
| 98 | atrial fibrillation, familial, 6 (10.147) | ||
| 99 | Autophagic vacuolar myopathy (5.16) | ||
| 100 | Autosomal dominant myopathy with proximal muscle weakness and early respiratory (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 101 | Autosomal recessive CMT axonal type 2S (12.5, 14.83) | ||
| 102 | Autosomal recessive CMT2 related to DNAJB2 (12.9, 14.76) | ||
| 103 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (15.81, 13.89, 14.89) | ||
| 104 | autosomal recessive spastic ataxia with leukoencephalopathy (15.78) | ||
| 105 | Autosomal recessive spinocerebellar ataxia, 9 with ubiquinone deficiency (13.62, 16.72) | ||
| 106 | Axonal neuropathy intermediate recessive C (12.8, 14.80) | ||
| 107 | Axonal neuropathy recessive (14.79) | ||
| 108 | Axonal neuropathy with myotonia (14.77, 12.15) | ||
| 109 | Barth syndrome (10.80, 10.91) | ||
| 110 | Becker muscular distrophy (1.1, 10.81) | ||
| 111 | Bethlem myopathy (2.8, 2.4, 1.48, 1.19) | ||
| 112 | Bethlem myopathy (2.2, 2.6, 1.46, 1.17) | ||
| 113 | Bethlem myopathy (2.3, 2.5, 2.7, 2.12, 1.47, 1.18) | ||
| 114 | Bethlem myopathy 2 (2.9, 2.10, 2.11) | ||
| 115 | Brody myopathy (6.9) | ||
| 116 | Brown-Vialetto-Van Laere syndrome 1 (12.81) | ||
| 117 | Brown-Vialetto-Van Laere syndrome 2 (12.82) | ||
| 118 | Brugada syndrome (10.124, 10.41, 10.161, 10.171, 10.151) | ||
| 119 | brugada syndrome 2 (10.162) | ||
| 120 | brugada syndrome 3 (10.129, 10.163) | ||
| 121 | brugada syndrome 4 (10.164) | ||
| 122 | Brugada syndrome 5 (10.165, 10.155) | ||
| 123 | Brugada syndrome 6 (7.11, 10.166) | ||
| 124 | Brugada syndrome 7 (10.167, 10.158) | ||
| 125 | Brugada syndrome 8 (10.170, 10.168) | ||
| 126 | Brugada syndrome 9 (13.17, 10.169) | ||
| 127 | Cap myopathy, TPM2-related, included (3.4, 3.40, 16.9, 16.15) | ||
| 128 | Cardiac and skeletal aggregate myopathy (5.12) | ||
| 129 | Cardiac and skeletal aggregate myopathy (5.12) | ||
| 130 | Cardiac conduction defect, progressive (10.124, 10.41, 10.161, 10.171, 10.151) | ||
| 131 | cardiac valvular dysplasia, x-linked (10.102) | ||
| 132 | Cardimyopathy, dilated, 1A (10.4, 3.44, 10.74, 10.101) | ||
| 133 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (10.35, 14.88) | ||
| 134 | Cardiomopathy, hypertrophic, mid-ventricular chamber type (10.7) | ||
| 135 | cardiomyopathy, dilated 1C (5.5, 10.39, 4.12, 10.25, 10.94) | ||
| 136 | Cardiomyopathy, dilated, 1A (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 137 | Cardiomyopathy, dilated, 1CC (10.64, 10.21) | ||
| 138 | Cardiomyopathy, dilated, 1D (10.2, 10.40, 10.87, 10.97) | ||
| 139 | Cardiomyopathy, dilated, 1DD (10.65) | ||
| 140 | Cardiomyopathy, dilated, 1E (10.124, 10.41, 10.161, 10.171, 10.151) | ||
| 141 | Cardiomyopathy, dilated, 1EE (10.1, 10.66, 10.13, 10.172) | ||
| 142 | Cardiomyopathy, dilated, 1FF (10.6, 10.85, 10.78, 10.67) | ||
| 143 | Cardiomyopathy, dilated, 1G (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 144 | Cardiomyopathy, dilated, 1GG (10.68) | ||
| 145 | Cardiomyopathy, dilated, 1H (10.43) | ? - (2q14-q22) | |
| 146 | Cardiomyopathy, dilated, 1J (10.45) | ||
| 147 | Cardiomyopathy, dilated, 1K (10.46) | ? - (6q12-q16) | |
| 148 | Cardiomyopathy, dilated, 1M (10.48, 10.11) | ||
| 149 | Cardiomyopathy, dilated, 1O (10.50, 10.154) | ||
| 150 | Cardiomyopathy, dilated, 1P (10.51, 10.19) | ||
| 151 | Cardiomyopathy, dilated, 1Q (10.52) | ? - (7q22.3-q31.1) | |
| 152 | Cardiomyopathy, dilated, 1R (10.53, 10.10, 10.95) | ||
| 153 | Cardiomyopathy, dilated, 1S (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96) | ||
| 154 | Cardiomyopathy, dilated, 1T (10.55) | ||
| 155 | Cardiomyopathy, dilated, 1U (10.56) | ||
| 156 | Cardiomyopathy, dilated, 1W (10.57) | ||
| 157 | Cardiomyopathy, dilated, 1W (10.14, 10.58) | ||
| 158 | Cardiomyopathy, dilated, 1X (2.18, 2.19, 10.59, 1.37) | ||
| 159 | Cardiomyopathy, dilated, 1Y (10.3, 10.60, 10.100) | ||
| 160 | Cardiomyopathy, dilated, 1Z (10.12, 10.61) | ||
| 161 | Cardiomyopathy, dilated, 2B (10.79) | ||
| 162 | Cardiomyopathy, Dilated, 3B (1.1, 10.81) | ||
| 163 | Cardiomyopathy, dilated, X-linked (1.1, 10.81) | ||
| 164 | Cardiomyopathy, familial dilated, 1 (10.38) | ? - (9q13) | |
| 165 | cardiomyopathy, familial hypertrophic (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 166 | cardiomyopathy, familial hypertrophic (10.15) | ||
| 167 | Cardiomyopathy, familial hypertrophic (10.6, 10.85, 10.78, 10.67) | ||
| 168 | Cardiomyopathy, familial hypertrophic 1 (10.1, 10.66, 10.13, 10.172) | ||
| 169 | Cardiomyopathy, familial hypertrophic 20 (10.64, 10.21) | ||
| 170 | Cardiomyopathy, familial hypertrophic 27 (10.28) | ||
| 171 | cardiomyopathy, familial hypertrophic, 1, included (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96) | ||
| 172 | Cardiomyopathy, familial hypertrophic, 10 (10.9, 3.19) | ||
| 173 | Cardiomyopathy, familial hypertrophic, 11 (10.53, 10.10, 10.95) | ||
| 174 | Cardiomyopathy, familial hypertrophic, 12 (10.48, 10.11) | ||
| 175 | Cardiomyopathy, familial hypertrophic, 15 (10.14, 10.58) | ||
| 176 | Cardiomyopathy, familial hypertrophic, 16 - CMH16 (10.17) | ||
| 177 | Cardiomyopathy, familial hypertrophic, 17 (10.18) | ||
| 178 | Cardiomyopathy, familial hypertrophic, 18 (10.51, 10.19) | ||
| 179 | Cardiomyopathy, familial hypertrophic, 2 (10.2, 10.40, 10.87, 10.97) | ||
| 180 | Cardiomyopathy, familial hypertrophic, 26 (5.6, 4.16, 10.27, 10.89) | ||
| 181 | Cardiomyopathy, familial hypertrophic, 3 (10.3, 10.60, 10.100) | ||
| 182 | Cardiomyopathy, familial hypertrophic, 4 (10.4, 3.44, 10.74, 10.101) | ||
| 183 | Cardiomyopathy, familial hypertrophic, 9 (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 184 | Cardiomyopathy, familial hypertrophic, with Wolff-Parkinson-white syndrome (10.5, 9.10) | ||
| 185 | Cardiomyopathy, familial restrictive (10.6, 10.85, 10.78, 10.67) | ||
| 186 | Cardiomyopathy, hypertrophic, 10 (10.9, 3.19) | ||
| 187 | Cardiomyopathy, X-linked dilated (10.80, 10.91) | ||
| 188 | Carey-Fineman-Ziter syndrome (formerly congenital myopathy with Moebius sequence and Robin sequence) (3.51) | ||
| 189 | Carnitine deficiency, systemic primary (9.19) | ||
| 190 | Carnitine-acylcarnitine translocase deficiency (9.20) | ||
| 191 | Central core disease (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30) | ||
| 192 | Centronuclear myopathy 2 (3.23) | ||
| 193 | Centronuclear myopathy 4 (3.27) | ||
| 194 | Centronuclear myopathy 6 with fiber-type disproportion (3.20) | ||
| 195 | Centronuclear myopathy related to TTN (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 196 | Centronuclear myopathy with dilated cardiomyopathy (3.26) | ||
| 197 | centronuclear myopathy, recessive (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30) | ||
| 198 | Cerebellar ataxia and hypogonadotropic hypogonadism (Goedon Holmes syndrome) (13.92) | ||
| 199 | Cerebellar ataxia, congenital, nonprogressive, autosomal dominant (13.26) | ? - (3p26) | |
| 200 | Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (13.94) | ||
| 201 | Cerebellar ataxia, paroxymal, acetazolamide-responsive (7.9, 13.6, 13.50, 7.10, 13.45) | ||
| 202 | Cerebellar ataxia, pure (7.9, 13.6, 13.50, 7.10, 13.45) | ||
| 203 | Chanarin-Dorfman syndrome (9.26) | ||
| 204 | Charcot-Marie Tooth disease (14.33) | ||
| 205 | Charcot-Marie Tooth disease, demyelinating type 1G (14.8) | ||
| 206 | Charcot-Marie Tooth disease, intermediate (14.19) | ||
| 207 | Charcot-Marie-Tooth 2 (14.60) | ||
| 208 | Charcot-Marie-Tooth disease with deafness and mental retardation (14.37, 16.63) | ||
| 209 | Charcot-Marie-Tooth disease, axonal (14.87) | ||
| 210 | Charcot-Marie-Tooth disease, axonal, related to BAG3 (5.7, 10.69, 14.71) | ||
| 211 | Charcot-Marie-Tooth disease, axonal, related to SCO2 (10.35, 14.88) | ||
| 212 | Charcot-Marie-Tooth disease, axonal, type 20 (14.57, 12.32) | ||
| 213 | Charcot-Marie-Tooth disease, axonal, type 2A2B (14.45, 14.72, 14.68) | ||
| 214 | Charcot-Marie-Tooth disease, axonal, type 2B1 (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 215 | Charcot-Marie-Tooth disease, axonal, type 2CC (12.68, 14.65) | ||
| 216 | Charcot-Marie-Tooth disease, axonal, type 2D (14.48, 12.21) | ||
| 217 | Charcot-Marie-Tooth disease, axonal, type 2DD (14.66) | ||
| 218 | Charcot-Marie-Tooth disease, axonal, type 2EE (14.75) | ||
| 219 | Charcot-Marie-Tooth disease, axonal, type 2N (12.24, 14.56) | ||
| 220 | Charcot-Marie-Tooth disease, axonal; related to SACS (15.81, 13.89, 14.89) | ||
| 221 | Charcot-Marie-Tooth disease, congenital, vertical talus (14.9) | ||
| 222 | Charcot-Marie-Tooth disease, dominant intermediate B (3.22, 2.15, 4.14, 14.13) | ||
| 223 | Charcot-Marie-Tooth disease, dominant intermediate D (14.2, 14.41, 14.52, 14.53, 14.27, 14.15) | ||
| 224 | Charcot-Marie-Tooth disease, dominant intermediate G (14.7, 14.49, 14.18) | ||
| 225 | Charcot-Marie-Tooth disease, mixed axonal and demyelinating type (14.20, 14.54, 14.78) | ||
| 226 | Charcot-Marie-Tooth disease, recessive intermediate, A (14.20, 14.54, 14.78) | ||
| 227 | Charcot-Marie-Tooth disease, type 1A (14.1, 14.40, 14.5, 14.6) | ||
| 228 | Charcot-Marie-Tooth disease, type 1B (14.2, 14.41, 14.52, 14.53, 14.27, 14.15) | ||
| 229 | Charcot-Marie-Tooth disease, type 1D (14.4, 14.26, 14.42) | ||
| 230 | Charcot-Marie-Tooth disease, type 1E (14.1, 14.40, 14.5, 14.6) | ||
| 231 | Charcot-Marie-Tooth disease, type 1F (14.7, 14.49, 14.18) | ||
| 232 | Charcot-Marie-Tooth disease, type 2A1 (14.44) | ||
| 233 | Charcot-Marie-Tooth disease, type 2B2 (14.74, 14.86) | ||
| 234 | Charcot-Marie-Tooth disease, type 2E (14.7, 14.49, 14.18) | ||
| 235 | Charcot-Marie-Tooth disease, type 2I (14.2, 14.41, 14.52, 14.53, 14.27, 14.15) | ||
| 236 | Charcot-Marie-Tooth disease, type 2J (14.2, 14.41, 14.52, 14.53, 14.27, 14.15) | ||
| 237 | Charcot-Marie-Tooth disease, type 2K (14.20, 14.54, 14.78) | ||
| 238 | Charcot-Marie-Tooth disease, type 4A (14.20, 14.54, 14.78) | ||
| 239 | Charcot-Marie-Tooth disease, type 4B1 (14.21) | ||
| 240 | charcot-marie-tooth disease, type 4b2 (14.22) | ||
| 241 | Charcot-Marie-Tooth disease, type 4D (14.25) | ||
| 242 | Charcot-Marie-Tooth disease, type 4F (14.28, 14.43) | ||
| 243 | charcot-marie-tooth disease, type 4j (14.31, 12.53) | ||
| 244 | Charcot-Marie-Tooth disease, X-linked 4 (Cowchock syndrome) (14.37, 16.63) | ||
| 245 | charcot-marie-tooth disease, x-linked recessive, 2 (14.35) | ? - (Xp22.2) | |
| 246 | charcot-marie-tooth disease, x-linked recessive, 3 (14.36) | ||
| 247 | charcot-marie-tooth disease, x-linked recessive, 5 (14.38) | ||
| 248 | Charcot-Marie-Tooth neuropathy Type 2B (14.46) | ||
| 249 | Charcot-Marie-Tooth neuropathy Type 2F (14.50, 12.18) | ||
| 250 | Charcot-Marie-Tooth neuropathy Type 2H (14.51) | ? - (8q21.3) | |
| 251 | Charcot-Marie-Tooth neuropathy Type 2L (14.55, 12.17, 4.21) | ||
| 252 | Charcot-Marie-Tooth neuropathy Type 2P (14.58) | ||
| 253 | Charcot-Marie-Tooth neuropathy Type 2Q (14.59) | ||
| 254 | Charcot-Marie-Tooth neuropathy Type 2R (14.82) | ||
| 255 | Charcot-Marie-Tooth neuropathy Type 2T (14.84, 13.39) | ||
| 256 | Charcot-Marie-Tooth neuropathy Type 2V (14.61) | ||
| 257 | Charcot-Marie-Tooth neuropathy Type 2W (14.62) | ||
| 258 | Charcot-Marie-Tooth neuropathy Type 2X (15.26, 12.47, 14.85) | ||
| 259 | Charcot-Marie-Tooth neuropathy Type 2Y (5.27, 4.17, 12.56, 1.57, 14.63) | ||
| 260 | Charcot-Marie-Tooth neuropathy Type 2Z (14.64) | ||
| 261 | Charcot-Marie-Tooth neuropathy Type 4B3 (14.23) | ||
| 262 | Charcot-Marie-Tooth neuropathy Type 4E (14.4, 14.26, 14.42) | ||
| 263 | Charcot-Marie-Tooth neuropathy Type 4F (14.24) | ||
| 264 | Charcot-Marie-Tooth neuropathy Type 4G (14.29) | ||
| 265 | Charcot-Marie-Tooth neuropathy Type 4H (14.30) | ||
| 266 | Charcot-Marie-Tooth neuropathy Type 4K (14.32) | ||
| 267 | Charcot-Marie-Tooth neuropathy Type F (14.17) | ||
| 268 | Charcot-Marie-Tooth neuropathy with glomerulopathy (14.16) | ||
| 269 | Charcot-Marie-Tooth neuropathy X-linked 6 (14.39) | ||
| 270 | charcot-marie-tooth neuropathy, dominant intermediate A (14.12) | ? - (10q24.1-q25.1) | |
| 271 | Charcot-Marie-Tooth neuropathy, dominant intermediate C (14.14) | ||
| 272 | Charcot-Marie-Tooth neuropathy, with fibulin defect (14.11) | ||
| 273 | Charcot-Marie-Tooth neuropathy, X-linked (14.34, 14.42) | ||
| 274 | Charlevoix disease (14.109) | ||
| 275 | CMT recessive intermediate D (14.81) | ||
| 276 | CMT2 related to KIF5A (15.6, 14.69, 12.67) | ||
| 277 | Coenzyme Q10 deficiency 1 (16.71) | ||
| 278 | Coenzyme Q10 deficiency 5 (16.73) | ||
| 279 | Coenzyme Q10 deficiency 6 (16.74) | ||
| 280 | Coenzyme Q10 deficiency 7 (16.75) | ||
| 281 | Coenzyme Q10 deficiency 8 (16.76) | ||
| 282 | COL12A1-related congenital muscular dystrophy (2.9, 2.10, 2.11) | ||
| 283 | Combined Oxidative phosphorylation Deficiency 6 (14.37, 16.63) | ||
| 284 | Complex motor and sensory axonal neuropathy plus microcephaly and cerebral dysge (12.79, 14.115, 12.10) | ||
| 285 | Congenital amyotrophy (3.56) | ||
| 286 | congenital cataracts, facial dysmorphism, and neuropathy (14.114) | ||
| 287 | Congenital multi-minicore myopathy (3.57) | ||
| 288 | Congenital muscle dystrophy with joint hyperlaxity (2.42) | ? - (3p23-21) | |
| 289 | Congenital muscle dystrophy with mitochondrial structural abnormalities (2.43) | ||
| 290 | Congenital muscular dystrophy (2.44) | ? - (1q42) | |
| 291 | Congenital muscular dystrophy and abnormal glycosylation of dystroglycan with se (2.34) | ||
| 292 | Congenital muscular dystrophy due to LMNA defect (L-CMD) (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 293 | Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype (1.42, 2.40) | ||
| 294 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan (2.33) | ||
| 295 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan ( | ||
| 296 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan and epilepsy (2.41) | ||
| 297 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A,12 (2.38) | ||
| 298 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A10 (2.36) | ||
| 299 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan type A9 (1.40, 2.35) | ||
| 300 | Congenital muscular dystrophy with hypoglycosylation of dystroglycan WWWS/MEB li (2.37) | ||
| 301 | Congenital muscular dystrophy with integrin defect (2.14) | ||
| 302 | Congenital muscular dystrophy with merosin deficiency (2.44) | ? - (1q42) | |
| 303 | Congenital muscular dystrophy with rigid spine related to ACTA1 (3.14, 3.3, 3.41, 2.45) | ||
| 304 | Congenital musuclar dystrophy with telethonin defect (1.31, 10.49, 2.16, 10.26) | ||
| 305 | Congenital myasthenic syndrome (11.23) | ||
| 306 | Congenital myasthenic syndrome related to ALG14 (11.21) | ||
| 307 | Congenital myasthenic syndrome related to ALG2 (11.20) | ||
| 308 | Congenital Myasthenic syndrome related to GMPPB (1.43, 2.39, 2.30, 11.35) | ||
| 309 | Congenital myasthenic syndrome related to MuSK (11.15, 16.26) | ||
| 310 | Congenital myasthenic syndrome related to RPH3A (11.38) | ||
| 311 | Congenital myasthenic syndrome type 19 (11.25) | ||
| 312 | Congenital myasthenic syndrome with choline acetyltransferase deficiency (11.12) | ||
| 313 | Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency (11.11) | ||
| 314 | Congenital myasthenic syndrome with episodic apnea (12.26, 11.26) | ||
| 315 | Congenital myasthenic syndrome with intellectual disability and ataxia (11.24) | ||
| 316 | Congenital myopathy Compton-North (3.45) | ||
| 317 | Congenital Myopathy related to PAX7 (3.58) | ||
| 318 | Congenital myopathy related to PTPLA (10.108, 3.47) | ||
| 319 | Congenital Myopathy related to PYROXD1 (5.9, 1.59, 3.60) | ||
| 320 | Congenital Myopathy related to SCN4A (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31) | ||
| 321 | Congenital Myopathy related to TNPO3 (1.14, 3.61) | ||
| 322 | Congenital myopathy with fatal cardiomyopathy (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 323 | Congenital myopathy with ophthalmoplegia related to CACNA1S (7.8, 8.5, 3.48) | ||
| 324 | congenital skeletal myopathy and fatal cardiomyopathy (10.4, 3.44, 10.74, 10.101) | ||
| 325 | CPT deficiency, hepatic, type II (9.18) | ||
| 326 | CPVT5 (10.119) | ||
| 327 | CRASH syndrome (15.72) | ||
| 328 | CRASH syndrome (15.72) | ||
| 329 | Creatine phosphokinase, elevated serum (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 330 | Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 331 | Danon disease (5.14) | ||
| 332 | Deafness, autosomal dominant nonsyndromic sensorineural 10 (10.45) | ||
| 333 | Dejerine-Sottas neuropathy, autosomal recessive (14.28, 14.43) | ||
| 334 | Dejerine-Sottas syndrome (14.2, 14.41, 14.52, 14.53, 14.27, 14.15) | ||
| 335 | Dejerine-Sottas syndrome (14.4, 14.26, 14.42) | ||
| 336 | Dejerine-Sottas Syndrome (14.1, 14.40, 14.5, 14.6) | ||
| 337 | Desmin-related myopathy (5.1, 1.23, 10.44, 1.52, 5.13, 10.121) | ||
| 338 | Desmin-related myopathy with Mallory bodies (2.13, 5.11, 3.15, 3.31) | ||
| 339 | Dilated cardiomyopathy realted to GATAD1 (10.79) | ||
| 340 | Dilated cardiomyopathy related to alpha-crystallin (5.2, 10.70) | ||
| 341 | Dilated cardiomyopathy related to BAG3 (5.7, 10.69, 14.71) | ||
| 342 | Dilated cardiomyopathy related to cardiac ankyrin repeat protein (10.77, 10.22) | ||
| 343 | Dilated Cardiomyopathy related to DOLK (10.84) | ||
| 344 | Dilated cardiomyopathy related to integrin-linked kinase (10.76) | ||
| 345 | Dilated cardiomyopathy related to laminin-alpha4 (10.71) | ||
| 346 | Dilated cardiomyopathy related to MURC (10.83) | ||
| 347 | Dilated cardiomyopathy related to MYBPC3 (10.4, 3.44, 10.74, 10.101) | ||
| 348 | Dilated cardiomyopathy related to nesprin-1 (1.6, 13.61, 16.21, 10.82) | ||
| 349 | Dilated cardiomyopathy related to PRDM16 (10.73, 10.99) | ||
| 350 | Dilated cardiomyopathy related to RAF1 (10.75) | ||
| 351 | dilated cardiomyopathy, 1aa (10.62, 10.24, 3.54) | ||
| 352 | Dilated cardiomyopathy, 1F ( | ? - (6q23) | |
| 353 | Dilated cardiomyopathy, 1I (5.1, 1.23, 10.44, 1.52, 5.13, 10.121) | ||
| 354 | Dilated Cardiomyopathy, 1L (1.30, 10.47) | ||
| 355 | Dilated cardiomyopathy, 1N (1.31, 10.49, 2.16, 10.26) | ||
| 356 | Dilated cardiomyopathy, related to DSG2 (10.111, 10.63) | ||
| 357 | Distal hereditary motor neuronopathy (14.77, 12.15) | ||
| 358 | Distal motor neuropathy (12.38) | ||
| 359 | Distal motor neuropathy related to SYT2 (11.13, 12.37) | ||
| 360 | Distal myopathy related to caveolin (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 361 | Distal Spinal Muscular Atrophy with Calf Predominance (12.20) | ||
| 362 | Distal spinal muscular atrophy, type VB (15.12, 12.23) | ||
| 363 | Dominant distal hereditary motor neuropathy (12.24, 14.56) | ||
| 364 | Duchenne muscular dystrophy (1.1, 10.81) | ||
| 365 | Dyskinetic cerebral palsy, partial agenesis of the corpus callosum and mitochondrial myopathy (16.68) | ||
| 366 | Dysmyelinating leukodystrophy (15.40) | ||
| 367 | Dyssegmental dysplasia, Silverman-Handmaker type (6.8) | ||
| 368 | Dystrophia myotonica (6.1) | ||
| 369 | Early onset axonal neuropathy with sensory ataxia (14.70) | ||
| 370 | Early onset distal myopathy with KLHL9 mutations (4.15) | ||
| 371 | Early onset myopathy, areflexia, respiratory distress and dysphagia (3.34, 3.33) | ||
| 372 | Early onset of mitochondrial myopathy (16.70) | ||
| 373 | Early-onset axonal Charcot-Marie-Tooth with ataxia (14.74, 14.86) | ||
| 374 | Early-onset myofibrillar myopathy with PYRODX1 defect (5.9, 1.59, 3.60) | ||
| 375 | Emery-Dreifuss Autosomal recessive (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 376 | Emery-dreifuss muscular dystrophy 1 (1.2) | ||
| 377 | Emery-dreifuss muscular dystrophy 4 (1.6, 13.61, 16.21, 10.82) | ||
| 378 | Emery-dreifuss muscular dystrophy 6 (1.3, 5.23, 5.24, 5.25) | ||
| 379 | Emery-dreifuss muscular dystrophy 7 (10.107, 1.8) | ||
| 380 | Emery-Dreifuss muscular dystrophy, autosomal dominant (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 381 | Endocardial fibroelastosis-2 (10.80, 10.91) | ||
| 382 | Enolase deficiency (9.16) | ||
| 383 | Epidermolysis bullosa simplex associated with late-onset muscular dystrophy (5.19, 1.41, 11.34, 1.58) | ||
| 384 | episodic ataxia type 5, included (13.47) | ||
| 385 | episodic ataxia type 6 (13.48) | ||
| 386 | episodic ataxia type-3 (13.46) | ? - (1q42) | |
| 387 | episodic ataxia type-7 (13.49) | ? - (19q13) | |
| 388 | Episodic ataxia with myokymia (7.12) | ||
| 389 | Episodic ataxia, type 2 (7.9, 13.6, 13.50, 7.10, 13.45) | ||
| 390 | episodic muscle weakness, x-linked (5.26) | ? - (Xp22.3) | |
| 391 | Erythrocyte lactate transporter defect (9.17) | ||
| 392 | Escobar syndrome (multiple pterygium syndrome) (11.33) | ||
| 393 | Exertional myoglobinuria due to deficiency of LDH-A (9.15) | ||
| 394 | Facio-scapulo-humeral muscular dystrophy, type 2 (1.11) | ||
| 395 | Familial amyloid neuropathy (16.4) | ||
| 396 | Familial amyotrophic lateral sclerosis (4.5, 12.63) | ||
| 397 | Familial brachial plexus neuropathy (14.111) | ||
| 398 | Familial dysautonomia (Riley-Day syndrome) (16.3, 14.96) | ELP1 (9q31.3) Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein | |
| 399 | Familial hypertrophic cardiomyopathy, 13 (10.12, 10.61) | ||
| 400 | Familial hypertrophic cardiomyopathy, 14 (10.1, 10.66, 10.13, 10.172) | ||
| 401 | Familial imb-girdle myasthenia with tubular aggregates related to DPAGT1 (11.19) | DPAGT1 (11q23.3) Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) | |
| 402 | Familial limb girdle myasthenia related to agrin (11.14) | ||
| 403 | Familial limb girdle myasthenia with tubular aggregates related to GFPT1 (11.18) | ||
| 404 | Familial limb-girdle myasthenia related to DOK7 (11.16, 16.27) | ||
| 405 | familial sinusal bradycardia (10.170, 10.168) | ||
| 406 | Familial spastic paraplegia, autosomal dominant, 2 (15.2) | ||
| 407 | Fatty aldehyde dehydrogenase (15.68) | ||
| 408 | Fetal akinesia deformation sequance with MUSK defect (11.15, 16.26) | ||
| 409 | Fetal akinesia deformation sequence 2 (11.17, 16.28) | ||
| 410 | Fetal akinesia deformation sequence 3 (11.16, 16.27) | ||
| 411 | Fetal akinesia deformation sequence 4 (16.29) | ||
| 412 | Fetal akinesia deformation sequence related to RYR1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30) | ||
| 413 | Fibrodysplasia ossificans progressiva (5.21) | ||
| 414 | Fibrosis of extraocular muscles, congenital, 1 (16.5) | ||
| 415 | Fibrosis of extraocular muscles, congenital, 2 (16.6) | ||
| 416 | Fibrosis of extraocular muscles, congenital, 3 (16.7) | ||
| 417 | Fibrosis of extraocular muscles, congenital, 5 (16.8) | ||
| 418 | Friedreich ataxia (13.51) | ||
| 419 | friedreich ataxia 2 (13.52) | ? - (9p23-p11) | |
| 420 | Friedreich ataxia with retained reflexes (13.51) | ||
| 421 | fukuyama congenital muscular dystrophy (2.18, 2.19, 10.59, 1.37) | ||
| 422 | Giant axonal neuropathy 2 (14.113) | ||
| 423 | Giant axonal neuropathy-1 (14.112) | ||
| 424 | 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) | |
| 425 | Glycogen storage disease II (9.1, 10.90, 1.53) | ||
| 426 | Glycogen storage disease IIb (5.14) | ||
| 427 | glycogen storage disease of heart, lethal congenital (10.5, 9.10) | ||
| 428 | glycogen storage disease type 0 (9.9) | ||
| 429 | Glycogen storage disease type IIIa (9.2) | ||
| 430 | Glycogen storage disease type IIIb (9.2) | ||
| 431 | Glycogen storage disease type IIIc (9.2) | ||
| 432 | Glycogen storage disease type IIId (9.2) | ||
| 433 | Glycogen storage disease VII (9.5) | ||
| 434 | Glycogen storage disease X (9.14) | ||
| 435 | Glycogen storage disease XI (9.15) | ||
| 436 | Glycogen storage disease XIII (9.16) | ||
| 437 | Glycogen storage disease XIV (9.7) | ||
| 438 | Glycogen storage disease XV (9.8, 9.12) | ||
| 439 | glycogen storage disease, type IXD (9.6) | ||
| 440 | GOLGA2-related congenital muscle dystrophy with brain involvement (2.46) | ||
| 441 | Hereditary bundle branch system defect (10.124, 10.41, 10.161, 10.171, 10.151) | ||
| 442 | Hereditary motor and sensory neuropathy – Lom (with deafness) (14.25) | ||
| 443 | Hereditary motor and sensory neuropathy 2A (14.45, 14.72, 14.68) | ||
| 444 | Hereditary motor and sensory neuropathy V (12.28) | ? - (4q34.3-q35.2) | |
| 445 | Hereditary motor and sensory neuropathy, type VIA with optic atrophy (14.45, 14.72, 14.68) | ||
| 446 | Hereditary motor and sensory, neuropathy, proximal, type (14.67, 15.56) | ||
| 447 | Hereditary motor and sensory, type 1C (14.3) | ||
| 448 | Hereditary myopathy with early respiratory failure (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 449 | hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag (14.91) | ? - (3p24-p22) | |
| 450 | Hereditary sensory and autonomic neuropathy type IV (14.97) | ||
| 451 | Hereditary sensory and autonomic neuropathy type VI (14.99) | ||
| 452 | Hereditary sensory and autonomic neuropathy type VIII (14.101) | ||
| 453 | Hereditary sensory neuropathy type IF (14.104) | ||
| 454 | Hereditary sensory neuropathy with dementia and hearing loss (14.103) | ||
| 455 | Hereditary sensory neuropathy, type IIB (14.94) | ||
| 456 | Hutchinson-Gilford progeria syndrome (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 457 | Hydrocephalus with Hirschspung disease and cleft palate (15.72) | ||
| 458 | Hyperckemia, idiopathic (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 459 | Hyperkalemic periodic paralysis (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31) | ||
| 460 | Hyperkalemic periodic paralysis, type 2 (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31) | ||
| 461 | Hypertrophic cardiomyopathy related calreticulin 3 (10.20) | ||
| 462 | Hypertrophic cardiomyopathy related to actinin-2 (10.62, 10.24, 3.54) | ||
| 463 | Hypertrophic cardiomyopathy related to cardiac ankyrin repeat domain protein (10.77, 10.22) | ||
| 464 | Hypertrophic cardiomyopathy related to cardiac myopalladin (10.72, 3.11, 10.23, 10.88) | ||
| 465 | Hypertrophic cardiomyopathy related to junctophilin (10.18) | ||
| 466 | Hypertrophic cardiomyopathy related to myozenin 2 (10.17) | ||
| 467 | Hypertrophic cardiomyopathy related to nexilin (10.64, 10.21) | ||
| 468 | Hypertrophic cardiomyopathy related to phospholamban (10.51, 10.19) | ||
| 469 | Hypertrophic cardiomyopathy related to TCAP (1.31, 10.49, 2.16, 10.26) | ||
| 470 | Hypertrophic cardiomyopathy related to ZASP (5.5, 10.39, 4.12, 10.25, 10.94) | ||
| 471 | Hypertrophic cardiomyopathy, early-onset fatal related to COX15 (10.36) | ||
| 472 | Hypertrophic mitochondrial cardiomyopathy related to MRPL3 (10.32) | ||
| 473 | Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 (10.29) | ||
| 474 | Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II (9.18) | ||
| 475 | Hypokalaemic periodic paralysis (7.11, 10.166) | ||
| 476 | Hypokalaemic periodic paralysis (7.5) | ||
| 477 | Hypokalaemic periodic paralysis, type 1 (7.8, 8.5, 3.48) | ||
| 478 | Hypokalemic periodic paralysis (7.8, 8.5, 3.48) | ||
| 479 | Inclusion body myopathy with early-onset paget disease and frontotemporal dement (5.27, 4.17, 12.56, 1.57, 14.63) | ||
| 480 | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia (5.28) | ||
| 481 | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (5.27, 4.17, 12.56, 1.57, 14.63) | ||
| 482 | Inclusion body myopathy, autosomal recessive (4.3) | ||
| 483 | Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy (9.29) | ||
| 484 | Infantile-onset multisystem disease with progressive muscle weakness (16.67) | ||
| 485 | Isolated inclusion body myopathy (3.38, 12.62) | ||
| 486 | jervell and lange-nielsen syndrome (10.140, 10.122, 10.144, 10.138) | ||
| 487 | Jervell and Lange-Nielsen syndrome (10.126) | ||
| 488 | Kennedy disease (12.39) | ||
| 489 | Klippel-Feil syndrome with Nemalin myopathy and facial dysmorphism (3.12) | ||
| 490 | Kugelberg-Welander Syndrome (12.1, 12.3, 12.2, 12.4) | ||
| 491 | LAP1B related muscular dystrophy (1.9, 1.55) | ||
| 492 | Late onset spinal muscular atrophy related to HEXB (12.83) | ||
| 493 | late-onset spinal motor neuronopathy, Jokela type (12.36, 12.72, 16.61) | ||
| 494 | Left ventricular noncompaction 10 (10.4, 3.44, 10.74, 10.101) | ||
| 495 | Left ventricular noncompaction 2 (10.93) | ? - (11q15) | |
| 496 | Left ventricular noncompaction 3 (5.5, 10.39, 4.12, 10.25, 10.94) | ||
| 497 | Left ventricular noncompaction 4 (3.14, 3.3, 3.41, 2.45) | ||
| 498 | Left ventricular noncompaction 5 (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96) | ||
| 499 | Left ventricular noncompaction 6 (10.2, 10.40, 10.87, 10.97) | ||
| 500 | Left ventricular noncompaction 7 (10.98) | ||
| 501 | LEFT VENTRICULAR NONCOMPACTION 8 (10.73, 10.99) | ||
| 502 | Left ventricular noncompaction 8 (10.73, 10.99) | ||
| 503 | Left ventricular noncompaction 9 (10.3, 10.60, 10.100) | ||
| 504 | Left ventricular noncompaction with congenital heart defects (10.92) | ||
| 505 | Left ventricular noncompaction, familial isolated (10.92) | ||
| 506 | Lethal congenital contractural syndrome 3 (12.77) | ||
| 507 | Lethal congenital contracture syndrome (16.25) | ||
| 508 | Lethal congenital contracture syndrome 1 (12.75) | ||
| 509 | Lethal congenital contracture syndrome 2 (12.76) | ||
| 510 | LGMD related to KBTBD13 (3.6, 1.60) | ||
| 511 | LGMD related to PYROXD1 (5.9, 1.59, 3.60) | ||
| 512 | LGMDD1 (1.13, 4.20) | ||
| 513 | LGMDD4 (1.25, 1.16) | ||
| 514 | LGMDD5 (2.2, 2.6, 1.46, 1.17) | ||
| 515 | LGMDD5 (2.3, 2.5, 2.7, 2.12, 1.47, 1.18) | ||
| 516 | LGMDD5 (2.8, 2.4, 1.48, 1.19) | ||
| 517 | LGMDR10 (Formerly LGMD2J) (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 518 | LGMDR22 (2.2, 2.6, 1.46, 1.17) | ||
| 519 | LGMDR22 (2.3, 2.5, 2.7, 2.12, 1.47, 1.18) | ||
| 520 | LGMDR22 (2.8, 2.4, 1.48, 1.19) | ||
| 521 | LGMDR23 (2.1, 1.49) | ||
| 522 | LGMDR24 (2.25, 1.50) | ||
| 523 | Limb girdle muscular dystrophy 1E (autosomal dominant) (5.1, 1.23, 10.44, 1.52, 5.13, 10.121) | ||
| 524 | Limb girdle muscular dystrophy 2J (autosomal recessive) (5.10, 3.25, 4.2, 1.34, 10.42, 10.8, 3.43, 3.32) | ||
| 525 | Limb girdle muscular dystrophy with ophthalmoplegia (5.19, 1.41, 11.34, 1.58) | ||
| 526 | Limb-Girdle, Muscular dystrophy, type 1G (1.15) | ||
| 527 | Limb-girdle, muscular dystrophy, type 1h (1.24) | ? - (3p23-p25) | |
| 528 | Limb-Girdle, Muscular dystrophy, type 2M (2.18, 2.19, 10.59, 1.37) | ||
| 529 | Limb-girdle, muscular dystrophy, type 2n (2.21, 2.29, 1.38) | ||
| 530 | Limb-girdle, muscular dystrophy, type 2o (2.27, 2.23, 1.39) | ||
| 531 | Limb-girdle, muscular dystrophy, type 2q (5.19, 1.41, 11.34, 1.58) | ||
| 532 | Limb-Girdle, Muscular dystrophy, type 2R (5.1, 1.23, 10.44, 1.52, 5.13, 10.121) | ||
| 533 | Limb-Girdle, Muscular dystrophy, type 2S (1.42, 2.40) | ||
| 534 | Limb-Girdle, Muscular dystrophy, type 2T (1.43, 2.39, 2.30, 11.35) | ||
| 535 | Limb-Girdle, Muscular dystrophy, type 2V (9.1, 10.90, 1.53) | ||
| 536 | Limb-Girdle, Muscular dystrophy, type 2W (1.54) | ||
| 537 | Limb-Girdle, Muscular dystrophy, type 2X (1.51) | ||
| 538 | Limb-Girdle, Muscular dystrophy, type 2Y (1.9, 1.55) | ||
| 539 | Limb-Girdle, Muscular dystrophy, type 2Z (1.45) | ||
| 540 | Lipid storage myopathy due to Flavin Adenine Dinucleotide Synthetase Deficiency (9.30) | ||
| 541 | lipodystrophy, congenital generalized, type 4 (1.12) | ||
| 542 | Lipodystrophy, familial partial, type 2 (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 543 | Long QT syndrome 10 (10.131, 10.159) | ||
| 544 | Long QT syndrome 11 (10.132) | ||
| 545 | Long QT syndrome 12 (10.133) | ||
| 546 | Long QT syndrome 13 (10.134) | ||
| 547 | Long QT syndrome 14 (10.118, 10.135) | ||
| 548 | Long QT syndrome 15 (10.136) | ||
| 549 | Long QT syndrome 9 (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 550 | Long QT syndrome-1 (10.140, 10.122, 10.144, 10.138) | ||
| 551 | Long QT syndrome-2 (10.123, 10.137) | ||
| 552 | Long QT syndrome-3 (10.124, 10.41, 10.161, 10.171, 10.151) | ||
| 553 | Long QT syndrome-4 (10.125) | ||
| 554 | Long QT syndrome-5 (10.126) | ||
| 555 | Long QT syndrome-6 (10.127, 10.141, 10.145) | ||
| 556 | Long QT syndrome-7 (10.128, 10.139, 10.150) | ||
| 557 | Lower motor neuron disease with respiratory failure related to MAPT (12.87) | ||
| 558 | luma related muscular dystrophy (10.107, 1.8) | ||
| 559 | Machado-Joseph disease (13.3) | ||
| 560 | Malignant hyperthermia susceptibility 1 (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30) | ||
| 561 | Malignant hyperthermia susceptibility 2 (8.2) | ? - (17q11.2-q24) | |
| 562 | Malignant hyperthermia susceptibility 3 (8.3) | ? - (7q21-q22) | |
| 563 | Malignant hyperthermia susceptibility 4 (8.4) | ? - (3q13.1) | |
| 564 | Malignant hyperthermia susceptibility 5 (7.8, 8.5, 3.48) | ||
| 565 | Malignant hyperthermia susceptibility 6 (8.6) | ? - (5p) | |
| 566 | Mandibuloacral dysplasia with type a lipodystrophy (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 567 | Marinesco-Sjogren syndrome (13.84) | ||
| 568 | Marssili syndrome (insensitivity to pain, congenital, AD) (14.108) | ||
| 569 | MASA syndrome (15.72) | ||
| 570 | McArdle disease (9.4) | ||
| 571 | MELAS-like syndrome (16.65) | ||
| 572 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (16.57) | ||
| 573 | minicore myopathy with external ophthalmoplegia (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30) | ||
| 574 | Mitochondrial complex 1 deficiency, nuclear type 11 (10.29) | ||
| 575 | Mitochondrial complex IV deficiency (16.66) | ||
| 576 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) (16.43) | ||
| 577 | Mitochondrial DNA depletion syndrome 11 (16.52) | ||
| 578 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) (16.33, 16.54, 16.53) | ||
| 579 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) (16.33, 16.54, 16.53) | ||
| 580 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) (16.55) | ||
| 581 | Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) (16.58, 16.56) | ||
| 582 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) (16.41, 16.45) | ||
| 583 | Mitochondrial DNA depletion syndrome 4A (Alpers type) (16.32, 13.85, 16.38, 16.47, 16.46) | ||
| 584 | Mitochondrial DNA depletion syndrome 4B (MNGIE type) (16.32, 13.85, 16.38, 16.47, 16.46) | ||
| 585 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (16.48) | ||
| 586 | Mitochondrial DNA depletion syndrome 8A (Encephalomyopathic type with renal tubulopathy) (16.50, 16.36, 16.49) | ||
| 587 | Mitochondrial DNA depletion syndrome 9 (Encephalomyopathic type withmethylmalonic aciduria) (16.51) | ||
| 588 | Mitochondrial dna depletion syndrome, myopathic form (16.44, 13.28, 16.40) | ||
| 589 | Mitochondrial hypertrophic cardiomyopathy related to AARS2 (10.31) | ||
| 590 | Mitochondrial hypertrophic cardiomyopathy related to MRPL44 (10.34) | ||
| 591 | Mitochondrial hypertrophic cardiomyopathy related to MTO1 (10.33) | ||
| 592 | Mitochondrial hypertrophic cardiomyopathy related to TSFM (10.30) | ||
| 593 | Mitochondrial myopathy (16.57) | ||
| 594 | Mitochondrial myopathy and sideroblastic anemia 1 (16.59) | ||
| 595 | Mitochondrial myopathy with severe neurological manifestations (16.64) | ||
| 596 | Miyoshi muscular dystrophy 3
(1.36, 4.13) | ||
| 597 | Miyoshi myopathy (4.1, 1.26) | ||
| 598 | Motor neuropathy, distal, with vocal cord paralysis (12.26, 11.26) | ||
| 599 | Multiminicore disease, classical form (2.13, 5.11, 3.15, 3.31) | ||
| 600 | Multiple acyl-coa dehydrogenase deficiency (9.23) | ||
| 601 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) (9.21) | ||
| 602 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) (9.22) | ||
| 603 | Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) (9.23) | ||
| 604 | Muscle dystrophy with congenital disorder of glycosylation (2.34) | ||
| 605 | Muscle dystrophy with congenital disorder of glycosylation, type Io (1.56) | ||
| 606 | Muscle hypertrophy (5.20) | ||
| 607 | Muscle-eye-brain disease (1.43, 2.39, 2.30, 11.35) | ||
| 608 | Muscle-eye-brain disease (2.31, 1.33, 2.22, 2.28) | ||
| 609 | Muscle-eye-brain disease (2.21, 2.29, 1.38) | ||
| 610 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, (2.25, 1.50) | ||
| 611 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.21, 2.29, 1.38) | ||
| 612 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.27, 2.23, 1.39) | ||
| 613 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.20, 1.35) | ||
| 614 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.32) | ||
| 615 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.31, 1.33, 2.22, 2.28) | ||
| 616 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.24, 1.44) | ||
| 617 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), (2.18, 2.19, 10.59, 1.37) | ||
| 618 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.27, 2.23, 1.39) | ||
| 619 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type (2.32) | ||
| 620 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retarda (2.31, 1.33, 2.22, 2.28) | ||
| 621 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), t (2.18, 2.19, 10.59, 1.37) | ||
| 622 | Muscular dystrophy-dystroglycanopathy (limb-girdle) (1.40, 2.35) | ||
| 623 | Muscular dystrophy, autosomal dominant, with rimmed vacuoles (4.8) | ? - (19p13) | |
| 624 | Muscular dystrophy, congenital Davignon-Chauveau type (2.47, 12.11) | ||
| 625 | Muscular dystrophy, congenital merosin-deficient (2.1, 1.49) | ||
| 626 | Muscular dystrophy, congenital, due to ITGA7 deficiency (2.14) | ||
| 627 | Muscular dystrophy, congenital, with cataracts and intellectual disability (2.48) | ||
| 628 | Muscular dystrophy, facioscapulohumeral, type 1A (1.10) | ||
| 629 | Muscular dystrophy, limb-girdle, autosomal recessive 12 (1.36, 4.13) | ||
| 630 | Muscular dystrophy, limb-girdle, autosomal recessive 15 (2.27, 2.23, 1.39) | ||
| 631 | Muscular dystrophy, Limb-Girdle, type 1A (1.20, 5.3, 5.4, 4.9) | ||
| 632 | Muscular dystrophy, limb-girdle, type 1B (1.4, 1.21, 1.5, 10.37, 2.17, 14.73) | ||
| 633 | Muscular dystrophy, Limb-Girdle, Type 1F (1.14, 3.61) | ||
| 634 | Muscular dystrophy, limb-girdle, type 1G ( | ? - (4q21) | |
| 635 | Muscular dystrophy, limb-girdle, type 2A (1.25, 1.16) | ||
| 636 | Muscular dystrophy, limb-girdle, type 2B (4.1, 1.26) | ||
| 637 | Muscular dystrophy, limb-girdle, type 2C (1.29) | ||
| 638 | Muscular dystrophy, limb-girdle, type 2D (1.27) | ||
| 639 | Muscular dystrophy, limb-girdle, type 2E (1.28) | ||
| 640 | Muscular dystrophy, limb-girdle, type 2F (1.30, 10.47) | ||
| 641 | Muscular dystrophy, limb-girdle, type 2G (1.31, 10.49, 2.16, 10.26) | ||
| 642 | Muscular dystrophy, limb-girdle, type 2H (1.32, 3.46) | ||
| 643 | Muscular dystrophy, limb-girdle, type 2I (2.31, 1.33, 2.22, 2.28) | ||
| 644 | Muscular dystrophy, Limb-Girdle, type 2K (2.20, 1.35) | ||
| 645 | Muscular dystrophy, limb-girdle, type IC (1.22, 6.6, 5.22, 6.7, 4.11, 10.130, 10.16) | ||
| 646 | Muscular dystrophy, rigid spine, 1 (2.13, 5.11, 3.15, 3.31) | ||
| 647 | Myasthenia gravis, autosomal recessive (11.12) | ||
| 648 | Myasthenia gravis, familial infantile (11.12) | ||
| 649 | Myasthenia gravis, familial infantile, 2 (11.12) | ||
| 650 | Myasthenic syndrome, acetazolamide-responsive (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31) | ||
| 651 | Myasthenic syndrome, congenital (11.17, 16.28) | ||
| 652 | Myasthenic Syndrome, Congenital, 21, Presynaptic (11.27) | ||
| 653 | Myasthenic syndrome, congenital, 22 (11.28) | ||
| 654 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficien (11.32) | ||
| 655 | Myasthenic syndrome, congenital, Ie, included (11.2, 11.8) | ||
| 656 | Myasthenic syndrome, fast-channel congenital (11.1, 11.5) | ||
| 657 | Myasthenic syndrome, fast-channel congenital (11.4, 11.7, 11.10) | ||
| 658 | Myasthenic syndrome, fast-channel congenital (11.3, 11.6, 11.9) | ||
| 659 | Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy (11.13, 12.37) | ||
| 660 | Myasthenic syndrome, slow-channel congenital (11.2, 11.8) | ||
| 661 | Myasthenic syndrome, slow-channel congenital (11.3, 11.6, 11.9) | ||
| 662 | Myasthenic syndrome, slow-channel congenital (11.1, 11.5) | ||
| 663 | Myasthenic syndrome, slow-channel congenital (11.4, 11.7, 11.10) | ||
| 664 | Myasthenic syndrome, with plectin defect (5.19, 1.41, 11.34, 1.58) | ||
| 665 | Myoclonus-dystonia syndrome (16.2) | ||
| 666 | Myofibrillar myopathy 1 (5.1, 1.23, 10.44, 1.52, 5.13, 10.121) | ||
| 667 | myofibrillar myopathy with bag3 defect (5.7, 10.69, 14.71) | ||
| 668 | myofibrillar myopathy ZASP-related (5.5, 10.39, 4.12, 10.25, 10.94) | ||
| 669 | Myofibrillar myopathy, alpha-B crystallin related (5.2, 10.70) | ||
| 670 | Myofibrillar myopathy, myotilin related (1.20, 5.3, 5.4, 4.9) | ||
| 671 | Myopathy centronuclear, 1 (3.22, 2.15, 4.14, 14.13) | ||
| 672 | Myopathy congenital related to ACTN2 (10.62, 10.24, 3.54) | ||
| 673 | Myopathy congenital with fast twitch (type II) fiber atrophy (3.55) | ||
| 674 | Myopathy congenital, with fiber-type disproportion (3.37) | ||
| 675 | Myopathy due to CPT II deficiency (9.18) | ||
| 676 | Myopathy due to phosphoglycerate mutase deficiency (9.14) | ||
| 677 | Myopathy microfibrillar type 7 (5.8) | ||
| 678 | Myopathy proximal to ophthalmoplegia, recessive (Inclusion body myopathy 3) (3.37) | ||
| 679 | Myopathy with characteristic sarcoplasmic inclusions (5.34) | ||
| 680 | myopathy with deficiency of succinate dehydrogenase and aconitase (5.29) | ||
| 681 | myopathy with exercise intolerance, swedish type (5.29) | ||
| 682 | Myopathy with joint contractures, ophtalmoplegia, and rimmed vacuoles (3.37) | ||
| 683 | myopathy with lactic acidosis, hereditary (5.29) | ||
| 684 | Myopathy with nemaline bodies (3.13) | ||
| 685 | Myopathy, autosomal recessive, with rigid spine and distal joint contractures (1.9, 1.55) | ||
| 686 | Myopathy, congenital, Bailey-Bloh (3.52, 3.53) | ||
| 687 | Myopathy, congenital, With excess of muscle spindles (3.50) | ||
| 688 | myopathy, congenital, with fiber-type disproportion (3.14, 3.3, 3.41, 2.45) | ||
| 689 | myopathy, congenital, with fiber-type disproportion (2.13, 5.11, 3.15, 3.31) | ||
| 690 | myopathy, congenital, with fiber-type disproportion (10.9, 3.19) | ||
| 691 | myopathy, congenital, with fiber-type disproportion (8.1, 3.29, 3.30, 3.42, 3.24, 3.17, 5.30, 3.28, 2.50, 16.30) | ||
| 692 | Myopathy, congenital, with malignant hyperthermia susceptibility (3.52, 3.53) | ||
| 693 | Myopathy, Congenital, With Neuropathy And Deafness (3.49) | ||
| 694 | Myopathy, distal 1 (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96) | ||
| 695 | Myopathy, distal, 4 (5.6, 4.16, 10.27, 10.89) | ||
| 696 | Myopathy, distal, with rimmed vacuoles (12.73, 4.19) | ||
| 697 | Myopathy, lactic acidosis, and sideroblastic anemia-2 (16.60) | ||
| 698 | Myopathy, mitochondrial and cerebellar ataxia (13.93, 2.49, 16.69) | ||
| 699 | Myopathy, myofibrillar, 2 (5.2, 10.70) | ||
| 700 | Myopathy, myofibrillar, filamin C-related (5.6, 4.16, 10.27, 10.89) | ||
| 701 | Myopathy, reducing body, X-linked, childhood-onset (1.3, 5.23, 5.24, 5.25) | ||
| 702 | Myopathy, reducing body, X-linked, severe early-onset (1.3, 5.23, 5.24, 5.25) | ||
| 703 | Myopathy, X-linked, with excessive autophagy (5.15) | ||
| 704 | myosclerosis, autosomal recessive (2.3, 2.5, 2.7, 2.12, 1.47, 1.18) | ||
| 705 | Myosin storage myopathy (4.4, 10.1, 3.35, 10.54, 3.36, 3.18, 10.96) | ||
| 706 | Myosin, heavy chain, perinatal (16.19) | ||
| 707 | Myotonia congenita, autosomal dominant, Thomsen disease (7.1, 6.3, 6.4, 7.2) | ||
| 708 | Myotonia congenita, autosomal recessive, Becker disease (7.1, 6.3, 6.4, 7.2) | ||
| 709 | Myotonia potassium-aggravatd (7.3, 7.6, 7.4, 7.7, 11.22, 3.59, 16.31) | ||
| 710 | Myotonia recessive (7.1, 6.3, 6.4, 7.2) | ||
| 711 | Myotonic dystrophy 1 (6.1) | ||
| 712 | Myotonic dystrophy, type 2 (6.2) | ||
| 713 | Myotubular myopathy, X-linked (3.21) | ||
| 714 | Myxomatous valvular dystrophy, X-ninked (10.102) | ||
| 715 | naxos disease (10.120, 10.113) | ||
| 716 | Nemaline myopathy (3.7) | ||
| 717 | Nemaline myopathy (3.9) | ||
| 718 | Nemaline myopathy (3.10) | ||
| 719 | Nemaline myopathy (10.72, 3.11, 10.23, 10.88) | ||
| 720 | Nemaline myopathy 1, autosomal dominant (3.1, 3.16, 3.39) | ||
| 721 | Nemaline myopathy 2, autosomal recessive (3.2, 4.10) | ||
| 722 | Nemaline myopathy 3 (3.14, 3.3, 3.41, 2.45) | ||
| 723 | Nemaline myopathy 4 (3.4, 3.40, 16.9, 16.15) | ||
| 724 | Nemaline myopathy 5 (3.5) | ||
| 725 | Nemaline myopathy 6 (3.6, 1.60) | ||
| 726 | Nemaline Myopathy with
Cardiomyopathy (3.12) | ||
| 727 | Nesprin-2 related muscular dystrophy (1.7) | ||
| 728 | Neurodegeneration with brain iron accumulation 4 (15.42) | ||
| 729 | Neuronal intranuclear inclusion diseases (14.117) | ||
| 730 | Neuronopathy, distal hereditary motor, type I (12.16) | ? - (7q34-q36) | |
| 731 | neuronopathy, distal hereditary motor, type IIC (12.19) | ||
| 732 | Neuronopathy, distal hereditary motor, type IX (12.25) | ||
| 733 | Neuronopathy, distal hereditary motor, type V (15.9, 12.22) | ||
| 734 | Neuronopathy, distal hereditary motor, type VIIB (12.27, 12.70) | ||
| 735 | Neuropathy, axonal motor-sensory, with deafness and mental retardation (14.37, 16.63) | ||
| 736 | Neuropathy, congenital hypomyelinating (14.2, 14.41, 14.52, 14.53, 14.27, 14.15) | ||
| 737 | Neuropathy, congenital hypomyelinating (14.4, 14.26, 14.42) | ||
| 738 | Neuropathy, distal hereditary motor type V (14.48, 12.21) | ||
| 739 | Neuropathy, distal hereditary motor, type II (14.55, 12.17, 4.21) | ||
| 740 | Neuropathy, distal hereditary motor, type IIB (14.50, 12.18) | ||
| 741 | Neuropathy, distal hereditary motor, with pyramidal features (12.46, 13.82) | ||
| 742 | Neuropathy, hereditary motor and sensory, lom type (14.25) | ||
| 743 | Neuropathy, hereditary motor and sensory, Okinawa type (14.67, 15.56) | ||
| 744 | Neuropathy, hereditary motor and sensory, type VIB (12.80) | ||
| 745 | neuropathy, hereditary sensory and autonomic type v (14.98) |