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| | 21-Hydroxylase Deficiency |
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| | Amyotrophic Lateral Sclerosis |
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| | Asphyxiating Thoracic Dystrophy |
| | Atypical Hemolytic Uremic Syndrome |
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| | Autoimmune Insulin Receptopathy(Type B insulin resistance) |
| | Beta-ketothiolase Deficiency |
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| | Cardic Ion Channelopathies |
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| | Charcot-Marie-Tooth Disease |
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| | Congenital Adrenal Hypoplasia |
| | Congenital Hyperinsulinemic Hypoglycemia |
| | Congenital Myasthenic Syndrome |
| | Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) |
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| | Familial Mediterranean Fever |
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| | Generalized Myasthenia Gravis |
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| | Glycogen Storage Disease (Type I、II) |
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| | Hepatolenticular Degeneration(Wilson Disease) |
| | Hereditary Angioedema (HAE) |
| | Hereditary Epidermolysis Bullosa |
| | Hereditary Fructose Intolerance |
| | Hereditary Hypomagnesemia |
| | Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL) |
| | Hereditary Spastic Paraplegia |
| | Holocarboxylase Synthetase Deficiency |
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| | Homozygous Hypercholesterolemia |
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| | Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome |
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| | Idiopathic Cardiomyopathy |
| | Idiopathic Hypogonadotropic Hypogonadism |
| | Idiopathic Pulmonary Arterial Hypertension |
| | Idiopathic Pulmonary Fibrosis |
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| | Inborn Errors of Bile Acid Synthesis |
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| | Langerhans Cell Histiocytosis |
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| | Leber Hereditary Optic Neuropathy |
| | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
| | Lymphangioleiomyomatosis (LAM) |
| | Lysinuric Protein Intolerance |
| | Lysosomal Acid Lipase Deficiency |
| | Maple Syrup Urine Disease |
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| | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
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| | Mitochodrial Encephalomyopathy |
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| | Multifocal Motor Neuropathy |
| | Multiple Acyl-CoA Dehydrogenase Deficiency |
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| | N-acetylglutamate Synthase Deficiency |
| | Neonatal Diabetes Mellitus |
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| | Ornithine Transcarbamylase Deficiency |
| | Osteogenesis Imperfecta (Brittle Bone Disease) |
| | Parkinson Disease (Young-onset , Early-onset) |
| | Paroxysmal Nocturnal Hemoglobinuria |
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| | Primary Combined Immune Deficiency |
| | Primary Hereditary Dystonia |
| | Primary Light Chain Amyloidosis |
| | Progressive Familial Intrahepatic Cholestasis |
| | Progressive Muscular Dystrophy |
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| | Pulmonary Alveolar Proteinosis |
| | Pulmonary Cystic Fibrosis |
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| | Severe Congenital Neutropenia |
| | Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) |
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| | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) |
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| | Tetrahydrobiopterin Deficiency |
| | Tuberous Sclerosis Complex |
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| | Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
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| | X-linked Agammaglobulinemia |
| | X-linked Adrenoleukodystrophy |
| | X-linked Lymphoproliferative Disease |