| 疾病名称 | 别名 |  | 
                    
                    
                        | Leber Hereditary Optic Neuropathy, Modifier Of | 
                                
                                    
                                    | Leber Optic Atrophy |  Leber Hereditary Optic Neuropathy |  
                                    
                                    
                                    |  LHON |  Leber'S Hereditary Optic Neuropathy |  
                                    
                                    
                                    |  Leber Optic Atrophy, Susceptibility To |  Leber'S Optic Atrophy |  
                                    
                                    
                                    |  LOAM |  Loas |  
                                    
                                    
                                    |  Leber'S Disease |  Leber'S Optic Neuropathy |  
                                    
                                    
                                    |  Optic Atrophy, Hereditary, Leber |  Lhon, Modifier Of |  
                                    
                                    
                                    |  Optic Atrophy, Leber Type |  Hereditary Optic Neuroretinopathy |  
                                    
                                    
                                    |  Leber Hereditary Optic Atrophy |  Loa |  
                                    
                                    
                                    |  Optic Atrophy Leber Type |  Leber Hereditary Optic Neuropathy, Modifier |  
                                    
                                    
                                    |  Leber Hereditary Optic Neuropathy Susceptibility |  Modifier Of Leber Hereditary Optic Neuropathy |  
                                    
                                    
                                    |  Lebers Hereditary Optic Neuropathy |  Leber Congenital Amaurosis |  | 
                                
                             | 
                    
                    
                        | Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes | 
                                
                                    
                                    | Melas Syndrome |  MELAS |  
                                    
                                    
                                    |  Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes |  Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode |  
                                    
                                    
                                    |  Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes |  Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke |  
                                    
                                    
                                    |  Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes |  Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |  
                                    
                                    
                                    |  Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes |  Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome |  
                                    
                                    
                                    |  Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |  | 
                                
                             | 
                    
                    
                        | Leber Optic Atrophy And Dystonia | 
                                
                                    
                                    | LDYT |  Marsden Syndrome |  
                                    
                                    
                                    |  Leber Hereditary Optic Neuropathy With Dystonia |  Leber Hereditary Optic Neuropathy And Dystonia |  
                                    
                                    
                                    |  Familial Dystonia With Visual Failure And Striatal Lucencies |  Dystonia, Familial, With Visual Failure And Striatal Lucencies |  
                                    
                                    
                                    |  Leber Optic Atrophy With Dystonia |  Dystonia Familial, With Visual Failure And Striatal Lucencies |  
                                    
                                    
                                    |  Lhon And Dystonia |  Leber'S Hereditary Optic Neuropathy With Dystonia |  | 
                                
                             | 
                    
                    
                        | Oncocytoma | 
                                
                                    
                                    | Oxyphilic Adenoma |  Follicular Adenoma, Oxyphilic Cell |  
                                    
                                    
                                    |  Adenoma, Oxyphilic |  Hurthle Cell Tumor |  
                                    
                                    
                                    |  Oncocytic Neoplasm |  | 
                                
                             | 
                    
                    
                        | Leigh Syndrome | 
                                
                                    
                                    | Leigh Disease |  Infantile Subacute Necrotizing Encephalopathy |  
                                    
                                    
                                    |  Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency |  LS |  
                                    
                                    
                                    |  Sne |  Leigh'S Disease |  
                                    
                                    
                                    |  Leigh Syndrome Due To Mitochondrial Complex I Deficiency |  Necrotizing Encephalopathy, Infantile Subacute, Of Leigh |  
                                    
                                    
                                    |  Subacute Necrotizing Encephalomyelopathy |  Necrotizing Encephalopathy Infantile Subacute Of Leigh |  
                                    
                                    
                                    |  Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency |  Infantile Necrotizing Encephalomyelopathy |  
                                    
                                    
                                    |  Juvenile Subacute Necrotizing Encephalomyelopathy |  Leigh'S Necrotizing Encephalopathy |  
                                    
                                    
                                    |  Subacute Necrotizing Encephalopathy |  Juvenile Subacute Necrotizing Encephalopathy |  
                                    
                                    
                                    |  Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency |  Leigh Syndrome Due To Mitochondrial Complex V Deficiency |  
                                    
                                    
                                    |  Encephalopathy, Subacute Necrotizing, Infantile |  Encephalopathy, Subacute Necrotizing, Juvenile |  
                                    
                                    
                                    |  Maternally Inherited Leigh Syndrome |  Subacute Necrotising Encephalomyelopathy |  
                                    
                                    
                                    |  Subacute Necrotising Encephalopathy |  | 
                                
                             | 
                    
                    
                        | Leber Plus Disease | 
                                
                                    
                                    | Leber Congenital Amaurosis |  Lca |  
                                    
                                    
                                    |  Leber'S Amaurosis |  Leber'S Disease |  
                                    
                                    
                                    |  Amaurosis Congenita Of Leber |  Amaurosis Congenita Of Leber, Type 1 |  
                                    
                                    
                                    |  Lhon Plus Disease |  Congenital Absence Of The Rods And Cones |  
                                    
                                    
                                    |  Congenital Retinal Blindness |  Crb |  
                                    
                                    
                                    |  Congenital Amaurosis Of Retinal Origin |  Leber'S Congenital Amaurosis |  
                                    
                                    
                                    |  Leber Congenital Amaurosis 1 |  Leber'S Congenital Tapetoretinal Degeneration |  
                                    
                                    
                                    |  Leber'S Congenital Tapetoretinal Dysplasia |  Lca1 |  
                                    
                                    
                                    |  Leber Congenital Amaurosis Type 1 |  Retinal Blindness, Congenital |  
                                    
                                    
                                    |  Amaurosis, Leber Congenital |  Dysgenesis Neuroepithelialis Retinae |  
                                    
                                    
                                    |  Hereditary Epithelial Dysplasia Of Retina |  Hereditary Retinal Aplasia |  
                                    
                                    
                                    |  Heredoretinopathia Congenitalis |  Leber Abiotrophy |  
                                    
                                    
                                    |  Leber Congenital Tapetoretinal Degeneration |  Lebers Congenital Amaurosis |  
                                    
                                    
                                    |  Optic Atrophy, Hereditary, Leber |  | 
                                
                             | 
                    
                    
                        | Mitochondrial Disease | 
                                
                                    
                                    | Mitochondrial Diseases |  Mitochondrial Disorder |  |  | 
                    
                    
                        | Mitochondrial Dna-Associated Leigh Syndrome | 
                                
                                    
                                    | Mils |  Maternally Inherited Leigh Syndrome |  
                                    
                                    
                                    |  Leigh Disease, Maternally Inherited |  Subacute Necrotizing Encephalomyelopathy Maternally Inherited |  
                                    
                                    
                                    |  Maternally-Inherited Leigh Disease |  Maternally-Inherited Infantile Subacute Necrotizing Encephalopathy |  
                                    
                                    
                                    |  Mtdna-Associated Leigh Syndrome |  | 
                                
                             | 
                    
                    
                        | Hereditary Optic Neuropathy |  |  | 
                    
                    
                        | Parkinsonism | 
                                
                                    
                                    | Parkinsonism-Plus |  Idiopathic Parkinsonism |  
                                    
                                    
                                    |  Primary Parkinsonism |  Paralysis Agitans Syndrome |  
                                    
                                    
                                    |  Parkinsonian Syndrome |  Trembling Paralysis |  
                                    
                                    
                                    |  Paralysis Agitans |  Shaking Palsy |  
                                    
                                    
                                    |  Shaking Paralysis |  | 
                                
                             | 
                    
                    
                        | Parkinson Disease 6, Autosomal Recessive Early-Onset | 
                                
                                    
                                    | Autosomal Recessive Early-Onset Parkinson Disease 6 |  Parkinson Disease 6 |  
                                    
                                    
                                    |  PARK6 |  Parkinson Disease 6, Early Onset |  
                                    
                                    
                                    |  Parkinson'S Disease 6 |  Parkinson Disease 6, Early-Onset |  
                                    
                                    
                                    |  Autosomal Recessive Early-Onset Parkinson'S Disease 6 |  Early-Onset Parkinson Disease 6 |  
                                    
                                    
                                    |  Autosomal Recessive Early-Onset Parkinson Disease Type 6 |  Parkinson Disease 6 Early-Onset |  
                                    
                                    
                                    |  Parkinson Disease 6 Late-Onset Susceptibility To |  Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/Dj1 |  
                                    
                                    
                                    |  Parkinsonism Young Adult Onset |  Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1 |  
                                    
                                    
                                    |  Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset |  | 
                                
                             | 
                    
                    
                        | Dystonia | 
                                
                                    
                                    | Dystonic Disease |  Dystonic Disorder |  
                                    
                                    
                                    |  Dystonia Disorders |  Neuroleptic Dyskinesia |  | 
                                
                             | 
                    
                    
                        | Kearns-Sayre Syndrome | 
                                
                                    
                                    | Ophthalmoplegia |  Mitochondrial Cytopathy |  
                                    
                                    
                                    |  KSS |  Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy |  
                                    
                                    
                                    |  Oculocraniosomatic Syndrome |  Chronic Progressive External Ophthalmoplegia With Myopathy |  
                                    
                                    
                                    |  Cpeo With Myopathy |  Total Ophthalmoplegia |  
                                    
                                    
                                    |  Ophthalmoplegia-Plus Syndrome |  Ophthalmoplegia, Progressive External, With Ragged-Red Fibers |  
                                    
                                    
                                    |  Cpeo With Ragged-Red Fibers |  Oculomotor Paralysis |  
                                    
                                    
                                    |  Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O |  Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna |  
                                    
                                    
                                    |  Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia |  Cpeo With Ragged Red Fibers |  
                                    
                                    
                                    |  Ophthalmoplegia Plus Syndrome |  Ophthalmoplegia, Progressive External, With Ragged Red Fibers |  
                                    
                                    
                                    |  Kearns-Sayre Mitochondrial Cytopathy |  Mitochondrial Myopathies |  | 
                                
                             | 
                    
                    
                        | Neuropathy | 
                                
                                    
                                    | Peripheral Neuropathy |  Peripheral Neuropathies |  |  | 
                    
                    
                        | Mitochondrial Encephalomyopathy | 
                                
                                    
                                    | Mitochondrial Encephalomyopathies |  Encephalomyopathy, Mitochondrial |  |  | 
                    
                    
                        | Optic Nerve Disease | 
                                
                                    
                                    | Optic Neuropathy |  Disorder Of The Second Nerve |  
                                    
                                    
                                    |  Optic Nerve Disorder |  Optic Nerve |  
                                    
                                    
                                    |  Abnormality Of The Optic Nerve |  Optic Nerve Disorders |  
                                    
                                    
                                    |  Neuropathy, Optic |  Disorder Of The Optic Nerve |  | 
                                
                             | 
                    
                    
                        | Mitochondrial Complex Iv Deficiency, Nuclear Type 5 | 
                                
                                    
                                    | Leigh Syndrome, French Canadian Type |  Mitochondrial Complex V   Deficiency Nuclear Type 4 |  
                                    
                                    
                                    |  Cytochrome C Oxidase Deficiency, French Canadian Type |  Lsfc |  
                                    
                                    
                                    |  Cox Deficiency, French Canadian Type |  MC5DN4 |  
                                    
                                    
                                    |  MC4DN5 |  Cox Deficiency, Saguenay-Lac-Saint-Jean Type |  
                                    
                                    
                                    |  Leigh Syndrome, Saguenay-Lac-Saint-Jean Type |  Mitochondrial Complex V   Deficiency, Nuclear Type 4 |  
                                    
                                    
                                    |  French Canadian Leigh Disease |  Leigh Syndrome, French-Canadian Type |  
                                    
                                    
                                    |  Leigh Syndrome , French Canadian Type |  Mitochondrial Complex V   Deficiency, Atp5a1 Type |  
                                    
                                    
                                    |  French Canadian Type Cox Deficiency |  French Canadian Type Cytochrome C Oxidase Deficiency |  
                                    
                                    
                                    |  French Canadian Type Leigh Syndrome |  Saguenay Lac Saint Jean Type Cox Deficiency |  
                                    
                                    
                                    |  Saguenay Lac Saint Jean Type Leigh Syndrome |  Cox Deficiency, Saguenay Lac Saint Jean Type |  
                                    
                                    
                                    |  Leigh Syndrome, Saguenay Lac Saint Jean Type |  Mitochondrial Complex V Deficiency, Nuclear Type 4 |  
                                    
                                    
                                    |  Mitochondrial Complex V   Deficiency Atp5a1 Type |  Mitochondrial Complex V   Deficiency Type 4 |  
                                    
                                    
                                    |  Mitochondrial Complex V   Deficiency, Nuclear, Type 4 |  | 
                                
                             | 
                    
                    
                        | Cortical Blindness |  |  | 
                    
                    
                        | Thelaziasis |  |  | 
                    
                    
                        | Congenital Nystagmus 1 | 
                                
                                    
                                    | Congenital Motor Nystagmus 1 |  Nys1 |  
                                    
                                    
                                    |  X-Linked Infantile Nystagmus 1 |  | 
                                
                             | 
                    
                    
                        | Cranial Nerve Disease | 
                                
                                    
                                    | Cranial Nerve Disorder |  Disorder Of Cranial Nerve |  
                                    
                                    
                                    |  Cranial Nerve Diseases |  | 
                                
                             | 
                    
                    
                        | Fasciolopsiasis | 
                                
                                    
                                    | Infection By Fasciolopsis Buski |  Infectious Disease By Fasciolopsis |  
                                    
                                    
                                    |  Intestinal Distomatosis |  Intestinal Distoma |  
                                    
                                    
                                    |  Giant Intestinal Fluke Infection |  Fasciolopsis Buski Infection |  
                                    
                                    
                                    |  Infection By Fasciolopsis |  Busk Fluke Infection |  
                                    
                                    
                                    |  Intestinal Fluke Infestation |  Infestation By Fasciolopsis |  
                                    
                                    
                                    |  Intestinal Distomiasis |  Intestinal Fluke Disease |  
                                    
                                    
                                    |  Intestinal Fluke Infection |  | 
                                
                             | 
                    
                    
                        | Optic Neuritis | 
                                
                                    
                                    | Inflammatory Optic Neuropathy |  |  | 
                    
                    
                        | Lactic Acidosis | 
                                
                                    
                                    | Acidosis, Lactic |  Acidosis Lactic |  |  | 
                    
                    
                        | Scotoma | 
                                
                                    
                                    | Enlarged Blind Spot |  Scotoma Of Blind Spot Area |  
                                    
                                    
                                    |  Blind Spot Area Scotoma |  Enlarged Angioscotoma |  
                                    
                                    
                                    |  Enlarged Paracaecal Scotoma |  Generalized Visual Field Contraction Or Constriction |  
                                    
                                    
                                    |  Sector Or Arcuate Visual Field Defects |  | 
                                
                             | 
                    
                    
                        | Optic Atrophy 7 With Or Without Auditory Neuropathy | 
                                
                                    
                                    | Optic Atrophy 7 |  OPA7 |  
                                    
                                    
                                    |  Autosomal Recessive Optic Atrophy, Opa7 Type |  Optic Atrophy-7 |  
                                    
                                    
                                    |  Atrophy, Optic, Type 7, With/Without Auditory Neuropathy |  | 
                                
                             | 
                    
                    
                        | 3-Methylglutaconic Aciduria, Type Iii | 
                                
                                    
                                    | Optic Atrophy |  3-Methylglutaconic Aciduria Type 3 |  
                                    
                                    
                                    |  Costeff Syndrome |  Mga3 |  
                                    
                                    
                                    |  Costeff Optic Atrophy Syndrome |  Optic Atrophy Plus Syndrome |  
                                    
                                    
                                    |  Infantile Optic Atrophy With Chorea And Spastic Paraplegia |  3-Methylglutaconic Aciduria Type Iii |  
                                    
                                    
                                    |  Autosomal Recessive Optic Atrophy Plus Syndrome |  Autosomal Recessive Optic Atrophy Type 3 |  
                                    
                                    
                                    |  Opa3 Defect |  MGCA3 |  
                                    
                                    
                                    |  Mga, Type Iii |  Iraqi Jewish Optic Atrophy Plus |  
                                    
                                    
                                    |  Mga Type Iii |  Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia |  
                                    
                                    
                                    |  Iraqi-Jewish 'Optic Atrophy Plus' |  Optic Atrophy 3, Autosomal Recessive |  
                                    
                                    
                                    |  Opa3, Autosomal Recessive |  Opa3-Related 3-Methylglutaconic Aciduria |  
                                    
                                    
                                    |  Iraqi-Jewish Optic Atrophy Plus |  Atrophy Of Optic Disc |  
                                    
                                    
                                    |  3-Alpha Methylglutaconic Aciduria Type Iii |  Optic Atrophy 3 |  
                                    
                                    
                                    |  Optic Atrophy Infantile With Chorea And Spastic Paraplegia |  Autosomal Recessive Opa3 |  
                                    
                                    
                                    |  Autosomal Recessive Optic Atrophy 3 |  3-Methylglutaconic Aciduria 3 |  
                                    
                                    
                                    |  3-Alpha-Methylglutaconic Aciduria Type 3 |  Optic Atrophy 3 Autosomal Recessive |  
                                    
                                    
                                    |  Atrophy, Optic |  Atrophy, Optic, Plus Syndrome |  
                                    
                                    
                                    |  Optic Nerve Atrophy |  Primary Optic Atrophy |  
                                    
                                    
                                    |  Oa - [Optic Atrophy] |  Second Cranial Nerve Atrophy |  
                                    
                                    
                                    |  Second Cranium Nerve Atrophy |  | 
                                
                             | 
                    
                    
                        | Nutritional Optic Neuropathy |  |  | 
                    
                    
                        | Mitochondrial Metabolism Disease | 
                                
                                    
                                    | Abnormality Of Mitochondrial Metabolism |  Mitochondrial Diseases |  |  | 
                    
                    
                        | Neuropathy, Ataxia, And Retinitis Pigmentosa | 
                                
                                    
                                    | Narp Syndrome |  NARP |  
                                    
                                    
                                    |  Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa |  Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome |  
                                    
                                    
                                    |  Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome |  Neuropathy, Ataxia And Retinitis Pigmentosa |  
                                    
                                    
                                    |  Neuropathy Ataxia Retinitis Pigmentosa Syndrome |  Neuropathy, Ataxia, And Retinitis Pigmentos |  
                                    
                                    
                                    |  Neuropathy Ataxia And Retinitis Pigmentosa |  Neuropathy, Ataxia, Retinitis Pigmentosa |  
                                    
                                    
                                    |  Neuropathy Ataxia And Retinis Pigmentosa |  Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome |  | 
                                
                             | 
                    
                    
                        | Toxic Optic Neuropathy |  |  | 
                    
                    
                        | Deafness, Aminoglycoside-Induced | 
                                
                                    
                                    | Streptomycin Ototoxicity |  Deafness, Mitochondrial, Modifier Of |  
                                    
                                    
                                    |  Aminoglycoside-Induced Deafness |  Deafness, Streptomycin-Induced |  
                                    
                                    
                                    |  Streptomycin-Induced Deafness |  DFNI |  | 
                                
                             | 
                    
                    
                        | Parathyroid Oncocytic Adenoma | 
                                
                                    
                                    | Parathyroid Gland Oncocytic Adenoma |  |  | 
                    
                    
                        | Chronic Progressive External Ophthalmoplegia | 
                                
                                    
                                    | Progressive External Ophthalmoplegia |  Cpeo |  
                                    
                                    
                                    |  Peo |  Ophthalmoplegia, Chronic Progressive External |  
                                    
                                    
                                    |  Ophthalmoplegia, External, Progressive, Chronic |  Graefe Disease |  
                                    
                                    
                                    |  Peo - [Progressive External Ophthalmoplegia] |  Ophthalmoplegia Plus Syndrome |  | 
                                
                             | 
                    
                    
                        | Pearson Marrow-Pancreas Syndrome | 
                                
                                    
                                    | Pearson Syndrome |  Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction |  
                                    
                                    
                                    |  Pearson'S Marrow/Pancreas Syndrome |  Pearson'S Syndrome |  
                                    
                                    
                                    |  Pearson'S Marrow-Pancreas Syndrome |  | 
                                
                             | 
                    
                    
                        | Pseudopapilledema |  |  | 
                    
                    
                        | Mitochondrial Complex I Deficiency, Nuclear Type 16 | 
                                
                                    
                                    | MC1DN16 |  Nuclear Type Mitochondrial Complex I Deficiency 16 |  
                                    
                                    
                                    |  Mitochondrial Complex 1 Deficiency, Nuclear Type 16 |  | 
                                
                             | 
                    
                    
                        | Mitochondrial Complex I Deficiency, Nuclear Type 1 | 
                                
                                    
                                    | Mitochondrial Complex I Deficiency |  Nadh:Q(1) Oxidoreductase Deficiency |  
                                    
                                    
                                    |  MC1DN1 |  Nadh-Coenzyme Q Reductase Deficiency |  
                                    
                                    
                                    |  Isolated Mitochondrial Respiratory Chain Complex I Deficiency |  Isolated Nadh-Coenzyme Q Reductase Deficiency |  
                                    
                                    
                                    |  Isolated Nadh-Coq Reductase Deficiency |  Isolated Nadh-Ubiquinone Reductase Deficiency |  
                                    
                                    
                                    |  Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of |  Nuclear Type Mitochondrial Complex I Deficiency 1 |  
                                    
                                    
                                    |  Isolated Complex I Deficiency |  Complex 1 Mitochondrial Respiratory Chain Deficiency |  
                                    
                                    
                                    |  Nadh Coenzyme Q Reductase Deficiency |  Complex I Mitochondrial Respiratory Chain Deficiency |  
                                    
                                    
                                    |  Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I |  Nadh:Ubiquinone Oxidoreductase Deficiency |  
                                    
                                    
                                    |  Complex I, Mitochondrial Respiratory Chain, Deficiency Of |  | 
                                
                             | 
                    
                    
                        | Mitochondrial Myopathy | 
                                
                                    
                                    | Mitochondrial Myopathies |  Mitochondrial Cytopathy |  
                                    
                                    
                                    |  Myopathies In Mitochondrial Disorders |  | 
                                
                             | 
                    
                    
                        | Myoclonic Epilepsy Associated With Ragged-Red Fibers | 
                                
                                    
                                    | Merrf Syndrome |  MERRF |  
                                    
                                    
                                    |  Fukuhara Syndrome |  Myoclonic Epilepsy Associated With Ragged Red Fibers |  
                                    
                                    
                                    |  Myoencephalopathy Ragged-Red Fiber Disease |  Myoclonic Epilepsy - Ragged Red Fibers |  
                                    
                                    
                                    |  Myoclonus Epilepsy And Ragged Red Fibers |  Myoclonus With Epilepsy And With Ragged Red Fibers |  
                                    
                                    
                                    |  Myoclonic Epilepsy With Ragged Red Fibers |  Myoclonic Epilepsy With Ragged-Red Fibers |  
                                    
                                    
                                    |  Fukuhara Disease |  Myoclonus Epilepsy Associated With Ragged-Red Fibres |  
                                    
                                    
                                    |  Myoclonus With Epilepsy With Ragged Red Fibers |  | 
                                
                             | 
                    
                    
                        | Cardiomyopathy, Infantile Hypertrophic | 
                                
                                    
                                    | Infantile Hypertrophic Cardiomyopathy |  CMHI |  |  | 
                    
                    
                        | Neonatal Period Electroclinical Syndrome |  |  | 
                    
                    
                        | Early Myoclonic Encephalopathy | 
                                
                                    
                                    | Myoclonic Epilepsy |  Myoclonic Seizure |  
                                    
                                    
                                    |  Epilepsies, Myoclonic |  Epileptic Seizures - Myoclonic |  
                                    
                                    
                                    |  Epileptic Seizures, Myoclonic |  Myoclonia Epileptica |  
                                    
                                    
                                    |  Myoclonic Seizure Disorder |  Early Myoclonic Encephalopathy With Suppression-Bursts |  | 
                                
                             | 
                    
                    
                        | Spinal Muscular Atrophy | 
                                
                                    
                                    | Sma |  5q Sma |  
                                    
                                    
                                    |  Proximal Sma |  Sma-Associated Sma |  
                                    
                                    
                                    |  Spinal Amyotrophies |  Spinal Amyotrophy |  
                                    
                                    
                                    |  Spinal Muscle Degeneration |  Spinal Muscle Wasting |  
                                    
                                    
                                    |  Muscular Atrophy Spinal |  Atrophy, Muscular, Spinal |  
                                    
                                    
                                    |  Hereditary Motor Neuronopathy |  Progressive Muscular Atrophy |  
                                    
                                    
                                    |  Sma - [Spinal Muscular Atrophy] |  | 
                                
                             | 
                    
                    
                        | Mitochondrial Dna Depletion Syndrome |  |  | 
                    
                    
                        | Peripheral Nervous System Disease | 
                                
                                    
                                    | Peripheral Neuropathy |  Peripheral Nerve Disease |  
                                    
                                    
                                    |  Peripheral Nerve Disorders |  Neuropathy, Peripheral |  
                                    
                                    
                                    |  Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation |  | 
                                
                             | 
                    
                    
                        | Retinitis Pigmentosa | 
                                
                                    
                                    | RP |  Rod-Cone Dystrophy |  
                                    
                                    
                                    |  Autosomal Recessive Retinitis Pigmentosa |  Non-Syndromic Retinitis Pigmentosa |  
                                    
                                    
                                    |  Pericentral Pigmentary Retinopathy |  Pigmentary Retinopathy |  
                                    
                                    
                                    |  Tapetoretinal Degeneration |  Rcd |  
                                    
                                    
                                    |  Retinitis Pigmentosa Autosomal Recessive |  ARRP |  
                                    
                                    
                                    |  Retinitis Pigmentosa, Autosomal Recessive |  Retinitis Pigmentosa 1 |  | 
                                
                             |