| No. | Diseases | No. | Diseases |
|---|
| 1 | 21-Hydroxyulase Deficiency | 60 | Langerhans Cell Histiocytosis |
| 2 | Albinism | 61 | Laron Syndrome |
| 3 | Alport Syndrome | 62 | Leber Hereditary Optic Neuropathy |
| 4 | Amyotrophic Lateral Sclerosis | 63 | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency |
| 5 | Angelman Syndrome | 64 | Lymphangioleiomyomatosis (LAM) |
| 6 | Arginase Deficiency | 65 | Lysine Urinary Protein Intolerance |
| 7 | Asphyxiating Thoracic Dystrophy (Jeune Syndrome) | 66 | Lysosomal Acid Lipase Deficiency |
| 8 | Atypical Hemolytic Uremic Syndrome | 67 | Maple Syrup Urine Disease |
| 9 | Autoimmune Encephalitis | 68 | Marfan Syndrome |
| 10 | Autoimmune Hypophysitis | 69 | McCune-Albright Syndrome |
| 11 | Autoimmune Insulin Receptopathy (Type B insulin resistance) | 70 | Medium Chain Acyl-CoA Dehydrogenase Deficiency |
| 12 | Beta-ketothiolase Deficiency | 71 | Methylmalonic Academia |
| 13 | Biotinidase Deficiency | 72 | Mitochondrial Encephalomyopathy |
| 14 | Cardic Ion Channelopathies | 73 | Mucopolysaccharidosis |
| 15 | Carnitine Deficiency | 74 | Multi-Focal Motor Neurothy |
| 16 | Castleman Disease | 75 | Multiple Acyl-CoA Dehydrogenase Deficiency |
| 17 | Charcot-Marie-Tooth Disease | 76 | Multiple Sclerosis |
| 18 | Citrullinemia | 77 | Multiple System Atrophy |
| 19 | Con******* Adrenal Hypoplasia | 78 | Myotonic Dystrophy |
| 20 | Con******* Hyperinsulinemic Hypoglycemia | 79 | NAGS Deficiency |
| 21 | Con******* Myasthenic Syndrome | 80 | Neonatal Diabetes Mellitus |
| 22 | Con******* Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) | 81 | Neuromyelitis Optica |
| 23 | Con******* Scoliosis | 82 | Niemann-Pick Disease |
| 24 | Coronary Artery Ectasia | 83 | Non-Syndromic Deafness |
| 25 | Diamond-Blackfan Anemia | 84 | Noonan Syndrome |
| 26 | Erdheim -Chester Disease | 85 | Ornithine Transcarbamylase Deficiency |
| 27 | Fabry Disease | 86 | Osteogenesis Imperfecta (Brittle Bone Disease) |
| 28 | Familial Mediterranean Fever | 87 | Parkinson Disease (Young-onset, Early-onset) |
| 29 | Fanconi Anemia | 88 | Paroxysmal Nocturnal Hemoglobinuia |
| 30 | Galactosemia | 89 | Peutz-Jeghers Syndrome |
| 31 | Gaucher's Disease | 90 | Phenylketonuria |
| 32 | General Myathenic Gravis | 91 | POEMS Syndrome |
| 33 | Gitelman Syndrome | 92 | Porphyria |
| 34 | Glutaric Acidemia Type I | 93 | Prader-Willi Syndrome |
| 35 | Glycogen Storage Disease (Type I, II) | 94 | Primary Combined Immune Deficiency |
| 36 | Hemophilia | 95 | Primary Hereditary Dystonia |
| 37 | Hepatolenticular Degeneration (Wilson Disease) | 96 | Primary Light Chain Amyloidosis |
| 38 | Hereditary Angioedema (HAE) | 97 | Progressive Familial Intrahepatic Cholestasis |
| 39 | Hereditary Epidermolysis Bullosa | 98 | Progressive Muscular Dystrophies |
| 40 | Hereditary Fructose Intolerance | 99 | Propionic Acidemia |
| 41 | Hereditary Hypomagnesemia | 100 | Pulmonary Alveolar Proteinosis |
| 42 | Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant
Arteriopathy with Subcortical Infarcts and Leukoencephalqpathy,
CADASIL) | 101 | Pulmonary Cystic Fibrosis |
| 102 | Retinitis Pigmentosa | | |
| 103 | Retinoblastoma | | |
| 43 | Hereditary Spastic Paraplegia | 104 | Severe Con******* Neutropenia |
| 44 | Holocarboxylase Synthetase Deficiency | 105 | Severe Myoclonic Epilepsy In Infaricy (Dravet Syndrome) |
| 45 | Homocysteinemia | 106 | Sickle Cell Disease |
| 46 | Homozygous Hypercholesterolemia | 107 | Silver-Russell Syndrome |
| 47 | Huntington Disease | 108 | Sitosterolemia |
| 48 | Hyperornithinaemia-Hyperammonaemia-Hhomocit rullinuria
Syndrome | 109 | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) |
| 110 | Spinal Muscular Atrophy | | |
| 49 | Hyperphenylalaninemia | 111 | Spinocerebellar Ataxia |
| 50 | Hypophosphatasia | 112 | Systemic Sclerosis |
| 51 | Hypophosphatemia Rickets | 113 | Tetrahydrobiopterin Deficiency |
| 52 | Idiopathic Cardiomyopathy | 114 | Tuberous Sclerosis Complex |
| 53 | Idiopathic Hypogonadotropic Hypogonadism | 115 | Tyrosinemia |
| 54 | Idiopathic Pulmonary Arterial Hypertension | 116 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency |
| 55 | Idiopathic Pulmonary Fibrosis | 117 | Williams Syndrome |
| 56 | IgG4 related Disease | 118 | Wiskott-Aldrich Syndrome |
| 57 | Inborn Errors of Bile Acid Synthesis | 119 | X-linked Agammaglobulinemia |
| 58 | Isovaleric Acidemia | 120 | X-linked Ldrenoleuko Dystrophy |
| 59 | Kallmann Syndrome | 121 | X-linked Lymphoproliferative Disease |