Disease - 333 intractable diseases designated by the Ministry of Health, Labour and Welfare (MHLW), Japan
| ID | Disease name (Searched query to trials) --- Original disease list | Clinical trial Phase 1 / 2 / 3 / 4 |
Drug [ DrugBank ] |
Drug target gene/pathway |
Domestic patients (From data on MHLW website) | Related info (in Japanese) |
| 1 | Spinal and bulbar muscular atrophy "Spinobulbar muscular atrophy", "Kennedy disease" | 11 trials 1 / 6 / 1 / 1 | 14 drugs [ 8 drugs ] | 10 genes 15 pathways | 1,223 | Biobank Animal model |
| 2 | Amyotrophic lateral sclerosis | 322 trials 89 / 168 / 51 / 5 | 365 drugs [ 127 drugs ] | 161 genes 207 pathways | 9,096 | Biobank Animal model |
| 3 | Spinal muscular atrophy "Myelopathic muscular atrophy", "SMA I", "Werdnig-Hoffman disease", "SMA II", "Dubowitz disease", "SMA III", "Kugelberg-Welander disease", "SMA IV" | 75 trials 22 / 46 / 19 / 3 | 73 drugs [ 24 drugs ] | 49 genes 75 pathways | 712 | Biobank |
| 4 | Primary lateral sclerosis | 6 trials 3 / 2 / 0 / 1 | 12 drugs [ 7 drugs ] | 17 genes 29 pathways | 175 (By the research group) | Biobank |
| 5 | Progressive supranuclear palsy | 55 trials 19 / 18 / 10 / 1 | 78 drugs [ 31 drugs ] | 59 genes 86 pathways | About 8,100 | Biobank |
| 6 | Parkinson disease | 1,307 trials 245 / 431 / 249 / 138 | 1,322 drugs [ 270 drugs ] | 161 genes 166 pathways | About 108,800 (estimated from Parkinson disease related diseases) | Biobank |
| 7 | Corticobasal degeneration "Corticobasal syndrome" | 15 trials 5 / 2 / 1 / 0 | 21 drugs [ 9 drugs ] | 6 genes 13 pathways | 3,500 | |
| 8 | Huntington disease "Huntington chorea" | 110 trials 34 / 54 / 19 / 3 | 125 drugs [ 50 drugs ] | 87 genes 146 pathways | 933 | Biobank Animal model |
| 9 | Neuroacanthocytosis "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome" | - | - | - | < 100 (By the research group) | |
| 10 | Charcot-Marie-Tooth disease | 19 trials 4 / 12 / 4 / 0 | 31 drugs [ 9 drugs ] | 12 genes 14 pathways | 6,250 (By the research group) | Biobank Animal model |
| 11 | Myasthenia gravis | 96 trials 8 / 34 / 32 / 6 | 101 drugs [ 36 drugs ] | 33 genes 80 pathways | 22,998 | |
| 12 | Congenital myasthenic syndrome "End-plate acetylcholine receptor deficiency", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency" | 4 trials 2 / 1 / 0 / 0 | 5 drugs [ 3 drugs ] | 3 genes 11 pathways | < 100 (By the research group) | |
| 13 | Multiple sclerosis "Neuromyelitis optica", "Devic disease", "Balo concentric sclerosis", "Baló concentric sclerosis" | 1,398 trials 207 / 412 / 334 / 196 | 1,426 drugs [ 306 drugs ] | 216 genes 210 pathways | 17,073 | Biobank |
| 14 | Chronic inflammatory demyelinating polyneuropathy "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "Multifocal motor neuropathy", "CIDP" | 65 trials 1 / 17 / 30 / 5 | 91 drugs [ 23 drugs ] | 15 genes 57 pathways | 4,633 | |
| 15 | Inclusion body myositis | 21 trials 3 / 13 / 8 / 0 | 23 drugs [ 10 drugs ] | 11 genes 112 pathways | 1,000 (By the research group) | Biobank |
| 16 | Crow-Fukase syndrome "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneu ... show all | 10 trials 0 / 7 / 2 / 0 | 12 drugs [ 6 drugs ] | 4 genes 66 pathways | 340 (By the research group) | |
| 17 | Multiple system atrophy "Olivopontocerebellar atrophy", "Striatonigral degeneration", "Shy-Drager syndrome" | 51 trials 14 / 17 / 8 / 1 | 85 drugs [ 41 drugs ] | 57 genes 98 pathways | 11,733 | Biobank |
| 18 | Spinocerebellar degeneration | 14 trials 1 / 6 / 6 / 2 | 11 drugs [ 5 drugs ] | 20 genes 11 pathways | 25,447 | |
| 19 | Lysosomal storage disease "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosi ... show all | 399 trials 116 / 173 / 93 / 35 | 369 drugs [ 77 drugs ] | 59 genes 147 pathways | 911 | Animal model |
| 20 | Adrenoleukodystrophy "Adrenomyeloneuropathy" | 31 trials 8 / 16 / 12 / 0 | 60 drugs [ 27 drugs ] | 17 genes 102 pathways | 193 | |
| 21 | Mitochondrial disease | 20 trials 5 / 10 / 3 / 1 | 16 drugs [ 6 drugs ] | 19 genes 8 pathways | 1,087 | Biobank Animal model |
| 22 | Moyamoya disease "Occlusive disease in circle of Willis" | 8 trials 1 / 1 / 0 / 1 | 11 drugs [ 10 drugs ] | 19 genes 30 pathways | 15,177 | Biobank |
| 23 | Prion disease "Creutzfeldt-Jakob disease", "Gerstmann-Straussler-Scheinker syndrome", "Fatal familial insomnia", "Kuru disease" | 3 trials 0 / 1 / 0 / 0 | 5 drugs [ 2 drugs ] | - | 584 | |
| 24 | Subacute sclerosing panencephalitis | - | - | - | About 100 | Biobank |
| 25 | Progressive multifocal leukoencephalopathy "Leukoencephalopathy, progressive multifocal" | 16 trials 2 / 6 / 0 / 2 | 26 drugs [ 20 drugs ] | 7 genes 34 pathways | < 100 (By the research group) | |
| 26 | HTLV-1-associated myelopathy "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy" | 23 trials 7 / 13 / 8 / 0 | 39 drugs [ 26 drugs ] | 37 genes 116 pathways | 3,000 (By the research group) | Biobank |
| 27 | Idiopathic basal ganglia calcification "Idiopathic basal ganglia calcification disease", "Fahr disease", "FIBGC", "Primary familial brain calcification", "PFBC" | - | - | - | 200 (By the research group) | |
| 28 | Systemic amyloidosis "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Familial amyloid polyneuropathy", "Senile systemic am ... show all | 111 trials 27 / 62 / 25 / 0 | 123 drugs [ 62 drugs ] | 50 genes 161 pathways | 1,802 | |
| 29 | Ullrich disease "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" | - | - | - | About 300 (By the research group) | |
| 30 | Distal myopathy "Distal muscular dystrophy", "Miyoshi myopathy", "Oculopharyngodistal myopathy" | 8 trials 1 / 3 / 5 / 0 | 13 drugs [ 2 drugs ] | 1 gene 1 pathway | 400 (By the research group) | Animal model |
| 31 | Bethlem myopathy "Beth Rem myopathy" | - | - | - | < 100 (By the research group) | |
| 32 | Autophagic vacuolar myopathy "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" | 1 trial 1 / 0 / 0 / 0 | 1 drug [ - ] | - | < 100 (By the research group) | |
| 33 | Schwartz-Jampel syndrome "Schwarz-Yanperu syndrome", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" | - | - | - | < 100 (By the research group) | |
| 34 | Neurofibromatosis "von Recklinghausen disease" | 98 trials 22 / 65 / 4 / 4 | 130 drugs [ 60 drugs ] | 84 genes 186 pathways | 3,588 | Biobank |
| 35 | Pemphigus | 57 trials 7 / 24 / 15 / 1 | 81 drugs [ 36 drugs ] | 17 genes 149 pathways | About 6,000 | Biobank |
| 36 | Epidermolysis bullosa "Kindler syndrome" | 80 trials 26 / 51 / 11 / 2 | 118 drugs [ 31 drugs ] | 27 genes 94 pathways | 347 | Biobank |
| 37 | Generalised pustular psoriasis "Pustular psoriasis", "Herpetic impetigo" | 29 trials 1 / 7 / 16 / 2 | 34 drugs [ 15 drugs ] | 16 genes 88 pathways | 2,072 | |
| 38 | Stevens-Johnson syndrome "Mucocutaneous ocular syndrome" | 10 trials 5 / 6 / 2 / 1 | 14 drugs [ 8 drugs ] | 9 genes 92 pathways | About 1,500 | |
| 39 | Toxic epidermal necrolysis "Toxic epidermal necrosis" | 11 trials 4 / 6 / 2 / 1 | 17 drugs [ 9 drugs ] | 11 genes 97 pathways | About 200 | |
| 40 | Takayasu arteritis "Aortitis syndrome", "Pulseless disease" | 16 trials 0 / 3 / 4 / 0 | 23 drugs [ 16 drugs ] | 16 genes 94 pathways | About 7,000 | Biobank |
| 41 | Giant cell arteritis "Temporal arteritis" | 46 trials 4 / 16 / 20 / 3 | 77 drugs [ 31 drugs ] | 32 genes 118 pathways | About 700 (By the research group) | |
| 42 | Polyarteritis nodosa | 9 trials 0 / 4 / 1 / 2 | 22 drugs [ 15 drugs ] | 23 genes 48 pathways | [Disease ID 42-43 total] 9,610 | |
| 43 | Microscopic polyangiitis | 40 trials 1 / 15 / 19 / 5 | 51 drugs [ 19 drugs ] | 13 genes 79 pathways | [Disease ID 42-43 total] 9,610 | |
| 44 | Wegener granulomatosis "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" | 40 trials 1 / 14 / 19 / 4 | 57 drugs [ 22 drugs ] | 13 genes 34 pathways | 1,942 | |
| 45 | Eosinophilic granulomatosis with Polyangiitis "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "Churg-Strauss syndrome" | 26 trials 4 / 8 / 10 / 3 | 32 drugs [ 20 drugs ] | 18 genes 93 pathways | About 1,800 (By the research group) | |
| 46 | Malignant rheumatoid arthritis "Rheumatoid arthritis", "Rheumatoid arthritis with vasculitis" | 1,999 trials 268 / 519 / 478 / 287 | 1,752 drugs [ 321 drugs ] | 172 genes 213 pathways | 6,255 | |
| 47 | Buerger disease "Thromboangiitis obliterans" | 8 trials 0 / 3 / 0 / 0 | 11 drugs [ 7 drugs ] | 3 genes 13 pathways | 7,109 | Biobank |
| 48 | Primary antiphospholipid syndrome "Primary antiphospholipid antibody syndrome" | 3 trials 0 / 0 / 1 / 0 | 2 drugs [ 1 drug ] | - | About 10,000 (By the research group) | |
| 49 | Systemic lupus erythematosus | 429 trials 99 / 171 / 79 / 35 | 477 drugs [ 150 drugs ] | 110 genes 185 pathways | 60,122 | Animal model |
| 50 | Dermatomyositis "Polymyositis" | 84 trials 10 / 31 / 21 / 4 | 124 drugs [ 38 drugs ] | 47 genes 139 pathways | About 19,500 | Biobank |
| 51 | Systemic scleroderma "Systemic sclerosis" | 237 trials 36 / 107 / 48 / 14 | 287 drugs [ 98 drugs ] | 89 genes 197 pathways | About 20,000 estimated though the latest number of unknown | Biobank |
| 52 | Mixed connective tissue disease | 3 trials 0 / 1 / 1 / 0 | 4 drugs [ 3 drugs ] | 1 gene 1 pathway | 11,005 | |
| 53 | Sjogren syndrome "Sjögren syndrome" | 130 trials 21 / 63 / 15 / 15 | 158 drugs [ 64 drugs ] | 45 genes 170 pathways | About 66,300 (By the research group) | Biobank |
| 54 | Adult still disease "Adult-onset Stills disease" | 2 trials 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 11 pathways | About 4,800 (By the research group) | |
| 55 | Relapsing polychondritis | 6 trials 1 / 2 / 0 / 0 | 7 drugs [ 7 drugs ] | 10 genes 54 pathways | About 500 (By the research group) | |
| 56 | Behcet disease "Behçet disease" | 41 trials 5 / 15 / 10 / 3 | 63 drugs [ 22 drugs ] | 33 genes 101 pathways | 20,035 | |
| 57 | Idiopathic dilated cardiomyopathy | 12 trials 3 / 5 / 1 / 3 | 23 drugs [ 11 drugs ] | 9 genes 31 pathways | 27,968 | Biobank Animal model |
| 58 | Hypertrophic cardiomyopathy | 55 trials 4 / 24 / 11 / 9 | 70 drugs [ 31 drugs ] | 31 genes 137 pathways | 4,667 | Biobank |
| 59 | Restricted cardiomyopathy "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" | - | - | - | 50 | |
| 60 | Aplastic anemia | 184 trials 42 / 114 / 21 / 11 | 212 drugs [ 61 drugs ] | 35 genes 136 pathways | 10,287 | |
| 61 | Autoimmune hemolytic anemia "AIHA", "Cold agglutinin disease", "Paroxysmal cold hemoglobinuria" | 40 trials 3 / 16 / 14 / 3 | 51 drugs [ 22 drugs ] | 28 genes 137 pathways | About 2,600 | |
| 62 | Paroxysmal nocturnal hemoglobinuria | 80 trials 8 / 39 / 28 / 2 | 68 drugs [ 26 drugs ] | 14 genes 83 pathways | About 400 | |
| 63 | Idiopathic thrombocytopenic purpura "Primary immune thrombocytopenia" | 127 trials 15 / 31 / 54 / 15 | 127 drugs [ 32 drugs ] | 40 genes 112 pathways | 24,956 | |
| 64 | Thrombotic thrombocytopenic purpura "Upshaw-Schulman syndrome" | 35 trials 3 / 16 / 12 / 3 | 55 drugs [ 16 drugs ] | 13 genes 50 pathways | Estimated occurrence: About 500 per year | Animal model |
| 65 | Primary immunodeficiency "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", ... show all | 273 trials 81 / 116 / 79 / 16 | 388 drugs [ 87 drugs ] | 70 genes 189 pathways | 1,383 | Animal model |
| 66 | IgA nephropathy "IgA nephritis", "Berger disease", "IgA-IgG nephropathy" | 125 trials 3 / 27 / 30 / 24 | 151 drugs [ 51 drugs ] | 30 genes 111 pathways | About 33,000 (By the research group) | Biobank Animal model |
| 67 | Polycystic kidney | 99 trials 7 / 37 / 39 / 6 | 110 drugs [ 42 drugs ] | 28 genes 133 pathways | About 31,000 (By the research group) | Animal model |
| 68 | Ossification of the ligamentum flavum "Ossification of ligamentum flavum" | 1 trial 0 / 0 / 0 / 0 | 3 drugs [ 3 drugs ] | 1 gene 3 pathways | 2,360 | |
| 69 | Ossification of posterior longitudinal ligament | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | - | 33,346 | |
| 70 | Spinal stenosis "Extensive spinal canal stenosis" | 69 trials 2 / 9 / 5 / 20 | 104 drugs [ 42 drugs ] | 56 genes 80 pathways | 5,944 | |
| 71 | Idiopathic osteonecrosis of the femoral head "Idiopathic femoral head necrosis" | 2 trials 0 / 1 / 0 / 0 | 3 drugs [ 3 drugs ] | 3 genes 7 pathways | 15,388 | |
| 72 | Pituitary ADH secretion disorder "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrom ... show all | 23 trials 1 / 5 / 10 / 0 | 16 drugs [ 4 drugs ] | 2 genes 4 pathways | [Disease ID 72-78 total] 17,069 | |
| 73 | TSH-secreting pituitary adenoma "Pituitary TSH secretion hyperthyroidism" | 1 trial 0 / 0 / 1 / 0 | 3 drugs [ 2 drugs ] | - | [Disease ID 72-78 total] 17,069 | |
| 74 | Prolactin secreting pituitary adenoma "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" | 15 trials 3 / 5 / 1 / 2 | 25 drugs [ 10 drugs ] | 16 genes 62 pathways | [Disease ID 72-78 total] 17,069 | |
| 75 | Cushing disease "Cushing" | 77 trials 6 / 26 / 24 / 5 | 106 drugs [ 41 drugs ] | 33 genes 105 pathways | [Disease ID 72-78 total] 17,069 | |
| 76 | Pituitary gonadotropin secretion hyperthyroidism "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 20 trials 0 / 0 / 10 / 8 | 32 drugs [ 7 drugs ] | 2 genes 6 pathways | [Disease ID 72-78 total] 17,069 | |
| 77 | Growth hormone secreting pituitary adenoma "Pituitary growth hormone secretion hyperthyroidism" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 2 genes 19 pathways | [Disease ID 72-78 total] 17,069 | |
| 78 | Hypopituitarism "Anterior pituitary hypothyroidism", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone ... show all | 244 trials 20 / 49 / 58 / 35 | 222 drugs [ 44 drugs ] | 44 genes 78 pathways | [Disease ID 72-78 total] 17,069 | |
| 79 | Homozygous familial hypercholesterolemia | 54 trials 3 / 20 / 29 / 1 | 69 drugs [ 24 drugs ] | 6 genes 14 pathways | 140 | |
| 80 | Resistance to thyroid hormone "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome" | - | - | - | About 3,000 (By the research group) | |
| 81 | Congenital adrenal hyperplasia "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Deh ... show all | 40 trials 9 / 17 / 11 / 1 | 58 drugs [ 21 drugs ] | 11 genes 63 pathways | About 1,800 | |
| 82 | Congenital adrenal hypoplasia "DAX-1 deficiency", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" | - | - | - | About 1,000 | |
| 83 | Addison disease "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", " ... show all | 17 trials 1 / 4 / 2 / 1 | 27 drugs [ 13 drugs ] | 6 genes 17 pathways | About 1,000 (By the research group) | |
| 84 | Sarcoidosis | 106 trials 10 / 44 / 18 / 17 | 161 drugs [ 74 drugs ] | 81 genes 138 pathways | 26,763 | |
| 85 | Idiopathic interstitial pneumonia "Idiopathic pulmonary fibrosis", "Usual interstitial pneumonia", "Non-specific interstitial pneumonia", "NSIP", "Organizing pneumonia", "Desquamative ... show all | 257 trials 46 / 105 / 52 / 13 | 256 drugs [ 93 drugs ] | 76 genes 182 pathways | More than about 15,000 (Medical care eligibility certificate holders in fiscal year 2,014: 8,846) | Biobank |
| 86 | Pulmonary arterial hypertension "Eisenmenger Syndrome" | 505 trials 58 / 132 / 141 / 68 | 433 drugs [ 113 drugs ] | 91 genes 178 pathways | 2,299 | |
| 87 | Pulmonary veno-occlusive disease "Pulmonary capillary hemangiomatosis", "PVOD" | 3 trials 1 / 1 / 0 / 0 | 4 drugs [ 3 drugs ] | 4 genes 44 pathways | About 100 | |
| 88 | Chronic thromboembolic pulmonary hypertension "CTEPH", "Idiopathic chronic pulmonary thromboembolism" | 49 trials 2 / 16 / 15 / 1 | 54 drugs [ 23 drugs ] | 10 genes 24 pathways | 1,810 | Biobank Animal model |
| 89 | Lymphangioleiomyomatosis | 30 trials 8 / 16 / 5 / 1 | 28 drugs [ 17 drugs ] | 26 genes 126 pathways | 689 | |
| 90 | Retinitis pigmentosa "Rod dystrophy", "Rod-Cone Dystrophy" | 78 trials 37 / 44 / 10 / 0 | 104 drugs [ 36 drugs ] | 50 genes 112 pathways | 27,158 | Biobank |
| 91 | Budd-Chiari syndrome | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 7 pathways | 293 | |
| 92 | Idiopathic portal hypertension "Banti syndrome" | - | - | - | About 1,000 | |
| 93 | Primary biliary cholangitis "Primary biliary cirrhosis" | 114 trials 14 / 53 / 24 / 9 | 136 drugs [ 42 drugs ] | 27 genes 78 pathways | 19,701 | |
| 94 | Primary sclerosing cholangitis | 68 trials 21 / 32 / 10 / 1 | 72 drugs [ 31 drugs ] | 17 genes 121 pathways | About 400 | |
| 95 | Autoimmune hepatitis | 27 trials 4 / 10 / 3 / 7 | 40 drugs [ 23 drugs ] | 16 genes 100 pathways | About 10,000 | |
| 96 | Crohn disease "Terminal ileitis" | 890 trials 117 / 270 / 234 / 116 | 832 drugs [ 211 drugs ] | 161 genes 201 pathways | 36,418 | |
| 97 | Ulcerative colitis | 820 trials 107 / 277 / 234 / 80 | 887 drugs [ 195 drugs ] | 108 genes 166 pathways | 143,733 | |
| 98 | Eosinophilic gastrointestinal disease "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food ... show all | 78 trials 10 / 39 / 17 / 5 | 85 drugs [ 33 drugs ] | 31 genes 123 pathways | About 5,000 (By the research group) | |
| 99 | Chronic intestinal pseudo-obstruction "Chronic idiopathic pseudo-bowel obstruction" | 2 trials 0 / 2 / 0 / 0 | 6 drugs [ 1 drug ] | - | Child case: 100, Adult case: 1,300 | |
| 100 | Megacystis microcolon intestinal hypoperistalsis syndrome "Huge bladder short and small colon intestinal peristalsis deficiency" | - | - | - | < 100 (By the research group) | |
| 101 | Congenital isolated hypoganglionosis "Intestinal ganglion cells insignificant disease" | - | - | - | About 100 (By the research group) | |
| 102 | Rubinstein-Taybi syndrome "RSTS" | 3 trials 0 / 2 / 0 / 1 | 4 drugs [ 1 drug ] | 7 genes 17 pathways | About 200 (By the research group) | Biobank |
| 103 | Cardio-facio-cutaneous syndrome "CFC syndrome" | - | - | - | About 200 (By the research group) | |
| 104 | Costello syndrome | - | - | - | About 100 (By the research group) | |
| 105 | CHARGE syndrome | - | - | - | About 5,000 (By the research group) | |
| 106 | Cryopyrin-associated periodic syndrome "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "Chronic infantile neurolo ... show all | 15 trials 3 / 3 / 6 / 0 | 13 drugs [ 4 drugs ] | 4 genes 44 pathways | About 100 (By the research group) | |
| 107 | Systemic juvenile idiopathic arthritis "Systemic-onset juvenile idiopathic arthritis" | 45 trials 6 / 11 / 14 / 5 | 39 drugs [ 10 drugs ] | 13 genes 80 pathways | About 8,000 | |
| 108 | TNF receptor-associated periodic syndrome | 2 trials 0 / 0 / 1 / 0 | 4 drugs [ 1 drug ] | 1 gene 40 pathways | < 100 (By the research group) | |
| 109 | Atypical hemolytic uremic syndrome | 23 trials 0 / 15 / 6 / 1 | 17 drugs [ 3 drugs ] | 1 gene 7 pathways | < 200 (By the research group) | |
| 110 | Blau syndrome "Early-onset sarcoidosis", "Systemic granulomatous diseases" | - | - | - | < 100 (By the research group) | |
| 111 | Congenital myopathy "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Myotubular myopathy", "Centronuclear myopathy", "Congenital fiber-type disproporti ... show all | 5 trials 4 / 5 / 0 / 0 | 7 drugs [ 2 drugs ] | - | About 1,000 | Biobank |
| 112 | Marinesco-Sjogren syndrome "Hereditary cerebellar ataxia-childhood cataracts" | - | - | - | < 100 | Biobank |
| 113 | Muscular dystrophy "Dystrophinopathies", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "FCMD ... show all | 289 trials 94 / 148 / 68 / 6 | 306 drugs [ 83 drugs ] | 57 genes 156 pathways | About 25,400 | Biobank Animal model |
| 114 | Non-dystrophic myotonia syndrome "Non-dystrophic Myotonia", "Myotonia congenita", "Paramyotonia congenita", "Thomsen disease", "Becker disease", "Sodium channel myotonia" | 6 trials 1 / 1 / 3 / 0 | 5 drugs [ 4 drugs ] | 18 genes 10 pathways | About 1,000 | |
| 115 | Hereditary periodic paralysis "Hereditary Hypokalemic Periodic Paralysis", "Hereditary Hyperkalemic Periodic Paralysis", "Andersen-Tawil syndrome" | 1 trial 1 / 0 / 0 / 0 | 2 drugs [ 2 drugs ] | 13 genes 7 pathways | About 1,000 | |
| 116 | Atopic myelitis "Idiopathic eosinophilic myelitis" | - | - | - | About 1,000 | |
| 117 | Syringomyelia | 2 trials 0 / 2 / 0 / 0 | 4 drugs [ - ] | - | About 3,000 | |
| 118 | Myelomeningocele "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" | 1 trial 0 / 0 / 0 / 1 | 1 drug [ - ] | - | 5.0~6.0 cases occur per 10,000 born (500~600 child are born per year) | |
| 119 | Isaacs syndrome "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" | - | - | - | About 100 | |
| 120 | Hereditary dystonia "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "Segawa syndrome", "D ... show all | 15 trials 2 / 4 / 7 / 1 | 17 drugs [ 6 drugs ] | 2 genes 2 pathways | About 500 | |
| 121 | Neuroferritinopathy | - | - | - | < 100 | |
| 122 | Superficial siderosis "Brain table hemosiderosis" | 2 trials 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | - | < 100 | |
| 123 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and de ... show all | - | - | - | < 100 | |
| 124 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" | 2 trials 0 / 1 / 0 / 0 | 7 drugs [ 2 drugs ] | 1 gene 2 pathways | About 200 | |
| 125 | Hereditary diffuse leukoencephalopathy with spheroid "Hereditary diffuse leukoencephalopathy" | - | - | - | < 100 | |
| 126 | Perry syndrome | - | - | - | < 100 | |
| 127 | Frontotemporal lobar degeneration "Frontotemporal dementia", "Semantic dementia" | 44 trials 7 / 14 / 5 / 5 | 54 drugs [ 21 drugs ] | 24 genes 46 pathways | About 12,000 | |
| 128 | Bickerstaff brainstem encephalitis | - | - | - | Occurrence: About 100 per year | |
| 129 | Acute encephalopathy with biphasic seizures and late reduced diffusion "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" | - | - | - | About 2,000~7,800 (Morbidity rate: 100~200 per year) | |
| 130 | Congenital insensitivity to pain with anhydrosis "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" | 1 trial 1 / 0 / 0 / 0 | 9 drugs [ 7 drugs ] | 4 genes 34 pathways | About 200~300 | |
| 131 | Alexander disease | - | - | - | < 100 | |
| 132 | Congenital supranuclear bulbar palsy "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" | - | - | - | About 100 | |
| 133 | Moebius syndrome "Mobius syndrome" | - | - | - | About 1,000 | |
| 134 | Septo-optic dysplasia "De Morsier syndrome" | 1 trial 0 / 0 / 0 / 1 | 1 drug [ - ] | - | About 500 | |
| 135 | Aicardi syndrome | 1 trial 0 / 1 / 0 / 0 | 9 drugs [ 3 drugs ] | - | < 100 | |
| 136 | Hemimegalencephaly "Unilateral megalencephaly" | - | - | - | < 100 | |
| 137 | Focal cortical dysplasia | 6 trials 0 / 4 / 0 / 0 | 4 drugs [ 2 drugs ] | 1 gene 43 pathways | A few thousand | |
| 138 | Nerve cell migration disorder "Lissencephaly", "Neuronal migration defect", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizenceph ... show all | - | - | - | About 1,000 | |
| 139 | Congenital cerebral hypomyelination "Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease ... show all | 5 trials 2 / 2 / 0 / 0 | 4 drugs [ 1 drug ] | - | About 200 | |
| 140 | Dorabe syndrome "Dravet syndrome" | 34 trials 5 / 10 / 16 / 1 | 27 drugs [ 8 drugs ] | 42 genes 53 pathways | About 3,000 | |
| 141 | Mesial temporal lobe epilepsy with hippocampal sclerosis "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lo ... show all | - | - | - | About 5,000 | |
| 142 | Myoclonic absence epilepsy | - | - | - | < 100 | |
| 143 | Epilepsy with myoclonic-atonic seizure "Epilepsy with myoclonic cataplexy" | - | - | - | < 100 | |
| 144 | Lennox-Gastaut syndrome | 41 trials 4 / 7 / 24 / 2 | 43 drugs [ 10 drugs ] | 49 genes 55 pathways | [Disease ID 144-148 total] About 4,300 | |
| 145 | West syndrome "Infantile spasm" | 27 trials 0 / 7 / 10 / 6 | 40 drugs [ 12 drugs ] | 21 genes 19 pathways | [Disease ID 144-148 total] About 4,300 | |
| 146 | Ohtahara syndrome "Early infantile epileptic encephalopathy with suppression burst" | - | - | - | [Disease ID 144-148 total] About 4,300 | |
| 147 | Early myoclonic encephalopathy | - | - | - | [Disease ID 144-148 total] About 4,300 | |
| 148 | Epilepsy of infancy with migrating focal seizure "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" | - | - | - | [Disease ID 144-148 total] About 4,300 | |
| 149 | Hemiconvulsion hemiplegia epilepsy syndrome "One side convulsions", "Hemiplegia", "Epilepsy syndrome" | 16 trials 2 / 4 / 6 / 1 | 22 drugs [ 10 drugs ] | 6 genes 10 pathways | < 100 | |
| 150 | Ring chromosome 20 epilepsy syndrome "Ring chromosome 20 syndrome" | - | - | - | < 100 | |
| 151 | Rasmussen encephalitis | 2 trials 0 / 1 / 1 / 0 | 3 drugs [ 2 drugs ] | 6 genes 80 pathways | < 100 | |
| 152 | PCDH19 related syndrome "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadheri ... show all | 3 trials 0 / 1 / 1 / 0 | 5 drugs [ 1 drug ] | 16 genes 7 pathways | < 100 | |
| 153 | Acute encephalitis with refractory repetitive partial seizure", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy ... show all | - | - | - | About 100 | |
| 154 | Epilepsy with continuous spikes and waves during slow sleep "Epileptic encephalopathy with continuous spike-and-wave during sleep" | - | - | - | [Disease ID 154-155 total] About 400 | |
| 155 | Acquired aphasia with convulsive disorder "Landau-Kleffner syndrome" | 1 trial 0 / 1 / 1 / 0 | 2 drugs [ 2 drugs ] | 29 genes 14 pathways | [Disease ID 154-155 total] About 400 | |
| 156 | Rett syndrome | 27 trials 3 / 19 / 4 / 0 | 34 drugs [ 16 drugs ] | 69 genes 105 pathways | About 1,000 | Animal model |
| 157 | Sturge-Weber syndrome "Síndrome de Sturge-Weber" | 6 trials 3 / 3 / 1 / 0 | 9 drugs [ 4 drugs ] | 5 genes 55 pathways | About 1,000 | |
| 158 | Tuberous sclerosis "Tuberous sclerosis complex" | 54 trials 8 / 28 / 18 / 5 | 37 drugs [ 14 drugs ] | 19 genes 106 pathways | About 4,000~12,000 | Biobank |
| 159 | Xeroderma pigmentosum | 4 trials 0 / 1 / 1 / 0 | 8 drugs [ 2 drugs ] | 2 genes 8 pathways | About 300~600 | Biobank |
| 160 | Congenital ichthyosis "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Harlequin ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Icht ... show all | 21 trials 4 / 9 / 3 / 1 | 31 drugs [ 10 drugs ] | 12 genes 96 pathways | About 200 | Biobank |
| 161 | Familial benign chronic pemphigus "Benign familial pemphigus", "Hailey-Hailey disease" | 4 trials 2 / 2 / 0 / 0 | 7 drugs [ 1 drug ] | 1 gene 20 pathways | About 300 | |
| 162 | Pemphigoid "Epidermolysis bullosa acquisita" | 49 trials 9 / 18 / 6 / 4 | 72 drugs [ 35 drugs ] | 23 genes 118 pathways | About 7,100 (Pemphigoid: About 6,850、Epidermolysis bullosa acquisita: About 250) | |
| 163 | Idiopathic pure sudomotor failure "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gl ... show all | - | - | - | About 100~200 | |
| 164 | Oculocutaneous albinism "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Griscelli syndrome" | 14 trials 3 / 8 / 1 / 0 | 54 drugs [ 36 drugs ] | 34 genes 132 pathways | About 5,000 (2,800~11,200) | |
| 165 | Pachydermoperiostosis | - | - | - | < 100 | |
| 166 | Pseudoxanthoma elasticum | 9 trials 1 / 7 / 2 / 0 | 17 drugs [ 5 drugs ] | 5 genes 25 pathways | About 300 | |
| 167 | Marfan syndrome | 14 trials 0 / 2 / 7 / 0 | 28 drugs [ 10 drugs ] | 10 genes 45 pathways | About 15,000~20,000 | Biobank |
| 168 | Ehlers-Danlos syndrome | 7 trials 0 / 1 / 2 / 1 | 14 drugs [ 10 drugs ] | 17 genes 53 pathways | About 20,000 | Biobank Animal model |
| 169 | Menkes disease | 5 trials 1 / 1 / 1 / 1 | 5 drugs [ 4 drugs ] | - | < 100 | Biobank |
| 170 | Occipital horn syndrome | 1 trial 0 / 0 / 1 / 0 | 3 drugs [ 3 drugs ] | - | < 100 | |
| 171 | Wilson disease | 25 trials 2 / 4 / 11 / 3 | 29 drugs [ 15 drugs ] | - | About 3,000 | Biobank |
| 172 | Hypophosphatasia | 22 trials 4 / 15 / 2 / 2 | 12 drugs [ 5 drugs ] | 3 genes 5 pathways | About 100~200 | |
| 173 | VATER syndrome "VATER association", "VACTERL association" | - | - | - | About 500 | |
| 174 | Nasu-Hakola disease "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | - | - | - | About 200 | |
| 175 | Weaver syndrome | - | - | - | < 100 | |
| 176 | Coffin-Lowry syndrome | - | - | - | One patient per tens of thousand population | |
| 177 | Joubert syndrome related disorder "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndr ... show all | 1 trial 0 / 0 / 0 / 0 | 1 drug [ - ] | - | < 100 | |
| 178 | Mowat-Wilson syndrome | - | - | - | About 1,000 | |
| 179 | Williams syndrome | 4 trials 0 / 0 / 0 / 1 | 12 drugs [ 7 drugs ] | 8 genes 29 pathways | Occurrence: One patient per twenty thousand population | |
| 180 | ATR-X syndrome "Alpha-thalassemia mental retardation syndrome" | - | - | - | < 100 | |
| 181 | Crouzon syndrome | - | - | - | [Disease ID 181-184 total] About 900 | |
| 182 | Apert syndrome | - | - | - | [Disease ID 181-184 total] About 900 | |
| 183 | Pfeiffer syndrome | - | - | - | [Disease ID 181-184 total] About 900 | |
| 184 | Antley-Bixler syndrome | - | - | - | [Disease ID 181-184 total] About 900 | |
| 185 | Coffin-Siris syndrome | - | - | - | < 100 | |
| 186 | Rothmund-Thomson syndrome "RAPADILINO syndrome", "Baller-Gerold syndrome" | - | - | - | < 100 | |
| 187 | Kabuki syndrome | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 2 genes 11 pathways | About 3,000~4,000 | |
| 188 | Polysplenia syndrome | - | - | - | [Disease ID 188-189 total] About 2,000 | |
| 189 | Asplenia syndrome | - | - | - | [Disease ID 188-189 total] About 2,000 | |
| 190 | Branchio-oto-renal syndrome "BOR syndrome" | - | - | - | About 300 | |
| 191 | Werner syndrome | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 5 pathways | About 2,000 | Biobank |
| 192 | Cockayne syndrome | 4 trials 1 / 3 / 0 / 0 | 7 drugs [ 3 drugs ] | 1 gene 43 pathways | < 100 | Biobank |
| 193 | Prader-Willi syndrome | 72 trials 6 / 25 / 23 / 8 | 77 drugs [ 26 drugs ] | 49 genes 59 pathways | About 1,000 | |
| 194 | Sotos syndrome | - | - | - | About 2,500 | |
| 195 | Noonan syndrome | 10 trials 0 / 2 / 5 / 0 | 11 drugs [ 4 drugs ] | 2 genes 9 pathways | About 600 | |
| 196 | Young-Simpson syndrome | - | - | - | About 100 | |
| 197 | 1p36 deletion syndrome | - | - | - | About 100 | |
| 198 | 4p deletion syndrome "4p-syndrome" | - | - | - | < about 1,000 | |
| 199 | 5p deletion syndrome "5p-syndrome" | - | - | - | < about 1,000 (One per fifty thousand born, probably < 1,000 estimated) | |
| 200 | Paternal uniparental disomy of chromosome 14 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" | - | - | - | < 100 | |
| 201 | Angelman syndrome | 12 trials 2 / 4 / 2 / 0 | 15 drugs [ 7 drugs ] | 22 genes 20 pathways | 500~1,000 | |
| 202 | Smith-Magenis syndrome | 6 trials 2 / 2 / 2 / 0 | 6 drugs [ 3 drugs ] | 2 genes 2 pathways | < 100 | |
| 203 | 22q11.2 deletion syndrome | 1 trial 1 / 0 / 0 / 0 | 1 drug [ - ] | - | About 4,500 | |
| 204 | Emanuel syndrome "Derivative 22 syndrome" | - | - | - | < 100 | |
| 205 | Fragile X syndrome related disease "Fragile X-associated tremor/ataxia syndrome", "FXTAS" | 3 trials 0 / 2 / 0 / 0 | 3 drugs [ 2 drugs ] | 21 genes 22 pathways | [Disease ID 205-206 total] < 100 | |
| 206 | Fragile X syndrome | 58 trials 9 / 32 / 10 / 3 | 58 drugs [ 25 drugs ] | 44 genes 54 pathways | [Disease ID 205-206 total] < 100 | |
| 207 | Persistent truncus arteriosus | - | - | - | About 500 | |
| 208 | Corrected transposition of great arteries | - | - | - | [Disease ID 208-209 total] About 900 | |
| 209 | Complete transposition of great vessel "Complete transposition of great arteries" | - | - | - | [Disease ID 208-209 total] About 900 | |
| 210 | Single ventricle heart defect "Complete TGA", "Univentricular heart", "Single ventricular circulation syndrome" | 6 trials 0 / 1 / 3 / 0 | 7 drugs [ 3 drugs ] | 3 genes 11 pathways | [Disease ID 210-213 total] About 3,500 (Patients of single ventricle heart defects) | |
| 211 | Hypoplastic left heart syndrome "Single ventricular circulation syndrome" | 16 trials 9 / 7 / 0 / 0 | 16 drugs [ 7 drugs ] | 4 genes 13 pathways | [Disease ID 210-213 total] About 3,500 (Patients of single ventricle heart defects) | |
| 212 | Tricuspid atresia "Single ventricular circulation syndrome" | 4 trials 2 / 1 / 0 / 0 | 5 drugs [ 5 drugs ] | 6 genes 5 pathways | [Disease ID 210-213 total] About 3,500 (Patients of single ventricle heart defects) | |
| 213 | Pulmonary atresia without ventricular septum defect "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia", "Single ventricular circulation syndrome" | - | - | - | [Disease ID 210-213 total] About 3,500 (Patients of single ventricle heart defects) | |
| 214 | Pulmonary atresia with ventricular septum defect "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with severe pulmonary stenosis" | 2 trials 0 / 0 / 0 / 0 | 4 drugs [ 4 drugs ] | - | [Disease ID 214-216 total] About 5,500 (Patients of tetralogy of Fallot related diseases) | |
| 215 | Tetralogy of Fallot "Fallot tetralogy" | 14 trials 2 / 3 / 1 / 1 | 16 drugs [ 13 drugs ] | 13 genes 39 pathways | [Disease ID 214-216 total] About 5,500 (Patients of tetralogy of Fallot related diseases) | |
| 216 | Double outlet right ventricle | - | - | - | [Disease ID 214-216 total] About 5,500 (Patients of tetralogy of Fallot related diseases) | |
| 217 | Ebstein disease "Ebstein malformation" | - | - | - | About 300 | |
| 218 | Alport syndrome | 8 trials 1 / 3 / 3 / 0 | 15 drugs [ 8 drugs ] | 5 genes 25 pathways | About 1,200 | Animal model |
| 219 | Galloway-Mowat syndrome | - | - | - | About 200 | |
| 220 | Rapidly progressive glomerulonephritis | 2 trials 0 / 1 / 2 / 0 | 4 drugs [ 2 drugs ] | 1 gene 1 pathway | About 3,800~5,800 in total estimated | Animal model |
| 221 | Anti-glomerular basement membrane disease | 1 trial 0 / 1 / 0 / 0 | 1 drug [ 1 drug ] | - | About 200~400 | |
| 222 | Primary nephrotic syndrome "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulo ... show all | 152 trials 18 / 50 / 24 / 15 | 167 drugs [ 61 drugs ] | 50 genes 174 pathways | About 16,000 | |
| 223 | Primary membranoproliferative glomerulonephritis "Dense deposit disease" | 13 trials 4 / 8 / 1 / 0 | 12 drugs [ 5 drugs ] | 10 genes 38 pathways | About 1,000 | |
| 224 | Purpura nephritis | 7 trials 1 / 3 / 0 / 1 | 31 drugs [ 17 drugs ] | 15 genes 51 pathways | 400~640 cases / year | |
| 225 | Congenital nephrogenic diabetes insipidus "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" | 11 trials 2 / 3 / 0 / 0 | 35 drugs [ 15 drugs ] | 30 genes 61 pathways | About 200 | |
| 226 | Interstitial cystitis with Hunners ulcer "Interstitial cystitis" | 83 trials 8 / 35 / 12 / 8 | 122 drugs [ 44 drugs ] | 54 genes 134 pathways | About 2,000 | |
| 227 | Osler disease "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" | 38 trials 7 / 23 / 6 / 2 | 44 drugs [ 18 drugs ] | 12 genes 106 pathways | About 10,000 | |
| 228 | Bronchiolitis obliterans "Obliterating bronchiolitis" | 57 trials 8 / 24 / 14 / 6 | 78 drugs [ 34 drugs ] | 33 genes 145 pathways | About 300~500 | |
| 229 | Autoimmune pulmonary alveolar proteinosis "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis" | 20 trials 6 / 12 / 5 / 0 | 15 drugs [ 7 drugs ] | 3 genes 12 pathways | About 900 (Autoimmune and congenital pulmonary alveolar proteinoses) | |
| 230 | Alveolar hypoventilation syndrome "Hypoventilation syndrome" | 5 trials 0 / 1 / 2 / 0 | 5 drugs [ 3 drugs ] | 16 genes 25 pathways | About 3,000 | |
| 231 | Alpha-1-antitrypsin deficiency "AATD" | 38 trials 9 / 21 / 11 / 1 | 56 drugs [ 17 drugs ] | 43 genes 49 pathways | < 100 | |
| 232 | Carney complex | 1 trial 0 / 1 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 29 pathways | < 100 | |
| 233 | Wolfram syndrome "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 4 trials 1 / 3 / 1 / 0 | 10 drugs [ 7 drugs ] | 11 genes 40 pathways | About 200 | |
| 234 | Peroxisomal disease (except Adrenoleukodystrophy) "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Zellweger syndrome", "PEX gene disorder", "Neonatal adrenoleukodyst ... show all | 17 trials 3 / 7 / 5 / 0 | 28 drugs [ 11 drugs ] | 11 genes 37 pathways | < 100 | |
| 235 | Hypoparathyroidism "Accessory thyroid hypergasia disease" | 44 trials 7 / 7 / 14 / 9 | 59 drugs [ 18 drugs ] | 4 genes 5 pathways | About 900 | |
| 236 | Pseudohypoparathyroidism | 4 trials 0 / 2 / 0 / 1 | 3 drugs [ 2 drugs ] | 20 genes 28 pathways | About 400 | |
| 237 | ACTH unresponsiveness "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" | - | - | - | < 100 | |
| 238 | Vitamin D-resistant rickets "Vitamin D-resistant osteomalacia", "VDRR", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia" | 1 trial 0 / 0 / 1 / 0 | 1 drug [ - ] | - | 117 cases per year in Japan (95％ CI 75-160) estimated by the national survey of the MHLW research group of abnormalities in hormonal signaling mechanisms | |
| 239 | Vitamin D-dependent rickets "Vitamin D-dependent osteomalacia", "VDDR" | - | - | - | < 100 | |
| 240 | Phenylketonuria "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" | 78 trials 12 / 15 / 17 / 10 | 53 drugs [ 8 drugs ] | - | About 500 | |
| 241 | Hypertyrosinemia type I "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I" | 11 trials 5 / 1 / 1 / 0 | 6 drugs [ 1 drug ] | 1 gene 4 pathways | [Disease ID 241-243 total] < 100 | |
| 242 | Hypertyrosinemia type II "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" | - | - | - | [Disease ID 241-243 total] < 100 | |
| 243 | Hypertyrosinemia type III "High tyrosinemia", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" | - | - | - | [Disease ID 241-243 total] < 100 | |
| 244 | Maple syrup urine disease "MSUD" | 1 trial 0 / 1 / 1 / 0 | 1 drug [ 1 drug ] | - | About 100 | |
| 245 | Propionic acidemia | 5 trials 1 / 3 / 1 / 0 | 9 drugs [ 4 drugs ] | 1 gene 6 pathways | About 300 | |
| 246 | Methylmalonic acidemia | 6 trials 1 / 5 / 1 / 0 | 16 drugs [ 2 drugs ] | 1 gene 6 pathways | About 300 | |
| 247 | Isovaleric acidemia "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" | - | - | - | < 100 | |
| 248 | Glucose transporter type 1 deficiency "GLUT1 deficiency" | 18 trials 4 / 10 / 3 / 0 | 7 drugs [ 1 drug ] | - | < 100 | |
| 249 | Glutaric acidemia type 1 | - | - | - | < 100 | |
| 250 | Glutaric acidemia type 2 "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" | - | - | - | < 100 | |
| 251 | Urea cycle disorder "N-acetylglutamate synthase deficiency", "NAGS deficiency", "Carbamoyl phosphate synthetase I deficiency", "CPS1 deficiency", "Ornithine transcarbamy ... show all | 20 trials 10 / 11 / 0 / 2 | 29 drugs [ 9 drugs ] | 1 gene 1 pathway | OTC deficiency: About 500; CPSI deficiency: About 100; Argininosuccinic aciduria: About 100; Other urea cycle disorders: < 100; | |
| 252 | Lysinuric protein intolerance | - | - | - | < 100 | |
| 253 | Congenital folate malabsorption "Hereditary folate malabsorption", "Folate malabsorption" | - | - | - | < 100 | |
| 254 | Porphyria "Hereditary coproporphyria", "Erythropoietic protoporphyria", "X-linked dominant protoporphyria" | 34 trials 9 / 15 / 11 / 1 | 35 drugs [ 20 drugs ] | 17 genes 30 pathways | About 200 | |
| 255 | Multiple carboxylase deficiency "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" | 1 trial 1 / 1 / 0 / 0 | 1 drug [ - ] | - | HCS deficiency: 1 / 1,000,000 occurrence in Japan; Biotinidase deficiency: a few cases reported; | |
| 256 | Muscle glycogenosis "Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen ... show all | 81 trials 17 / 33 / 12 / 14 | 71 drugs [ 20 drugs ] | 32 genes 97 pathways | About 3,000~6,000 estimated | |
| 257 | Hepatic glycogenosis "Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke di ... show all | 10 trials 1 / 3 / 0 / 0 | 15 drugs [ 4 drugs ] | 1 gene 4 pathways | About 1,200 | |
| 258 | Galactose-1-phosphate uridylyltransferase deficiency "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" | - | - | - | < 100 | |
| 259 | Lecithin-cholesterol acyltransferase deficiency "LCAT deficiency", "Fish-eye disease" | 1 trial 0 / 0 / 0 / 0 | 2 drugs [ 1 drug ] | - | < 100 | |
| 260 | Sitosterolemia | 12 trials 0 / 1 / 5 / 0 | 11 drugs [ 4 drugs ] | 1 gene 1 pathway | < 100 | |
| 261 | Tangier disease | 1 trial 0 / 0 / 0 / 0 | 2 drugs [ 1 drug ] | - | < 100 | |
| 262 | Primary hyperchylomicronemia | - | - | - | About 300 | |
| 263 | Cerebrotendinous xanthomatosis "27-hydroxylase deficiency", "CYP27 deficiency" | 3 trials 0 / 1 / 0 / 0 | 3 drugs [ 2 drugs ] | 2 genes 4 pathways | < 100 | |
| 264 | Abetalipoproteinemia "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" | - | - | - | < 100 (Only a few pedigrees in Japan since the first report in 1,983) | |
| 265 | Lipodystrophy "Berardinelli-Seip syndrome", "Lawrence syndrome", "Barraquer-Simons syndrome" | 88 trials 9 / 23 / 11 / 21 | 132 drugs [ 54 drugs ] | 14 genes 78 pathways | About 100 | |
| 266 | Familial mediterranean fever | 16 trials 1 / 7 / 2 / 2 | 14 drugs [ 6 drugs ] | 14 genes 52 pathways | About 300 | |
| 267 | Hyper-IgD syndrome "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" | - | - | - | < 100 | |
| 268 | Nakajo-Nishimura syndrome "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" | - | - | - | < 100 | Biobank |
| 269 | Pyogenic arthritis "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" | 18 trials 1 / 10 / 6 / 0 | 22 drugs [ 11 drugs ] | 12 genes 88 pathways | < 100 | |
| 270 | Chronic recurrent multifocal osteomyelitis | - | - | - | < 100 | |
| 271 | Ankylosing spondylitis "Spondylarthritis ankylopoietica" | 254 trials 13 / 53 / 84 / 54 | 252 drugs [ 59 drugs ] | 36 genes 130 pathways | About 4,500 | |
| 272 | Fibrodysplasia ossificans progressiva | 9 trials 1 / 7 / 2 / 0 | 7 drugs [ 2 drugs ] | 8 genes 42 pathways | < 100 | Biobank |
| 273 | Congenital scoliosis with rib anomaly "Congenital scoliosis" | - | - | - | < about 2,000 (Children under 11) | |
| 274 | Osteogenesis Imperfecta | 42 trials 7 / 12 / 7 / 6 | 55 drugs [ 13 drugs ] | 12 genes 70 pathways | About 6,000 | Biobank Animal model |
| 275 | Thanatophoric dysplasia | - | - | - | < 100 | |
| 276 | Achondroplasia | 11 trials 1 / 5 / 3 / 0 | 8 drugs [ 2 drugs ] | 1 gene 5 pathways | 6,000 nationwide (estimated by frequency of occurrence) | Biobank Animal model |
| 277 | Lymphangiomatosis "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" | 6 trials 2 / 2 / 1 / 0 | 2 drugs [ 2 drugs ] | 1 gene 43 pathways | About 100 (estimated by the national survey of the research group) | |
| 278 | Huge lymphatic malformation with cervicofacial lesion "Huge lymphatic malformation", "Lymphatic malformation" | 14 trials 1 / 8 / 2 / 1 | 15 drugs [ 7 drugs ] | 5 genes 55 pathways | About 600 | |
| 279 | Huge venous malformation with cervical oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation" | 7 trials 1 / 3 / 0 / 2 | 16 drugs [ 6 drugs ] | 1 gene 43 pathways | About 200 | |
| 280 | Huge arteriovenous malformation with cervicofacial or limb lesion "Huge arteriovenous malformation", "Arteriovenous malformation" | 17 trials 4 / 3 / 0 / 2 | 17 drugs [ 10 drugs ] | 8 genes 106 pathways | About 700 | |
| 281 | Klippel-Trenaunay-Weber syndrome | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 43 pathways | About 3,000 | |
| 282 | Congenital dyserythropoietic anemia | 1 trial 0 / 0 / 0 / 1 | 1 drug [ 1 drug ] | 2 genes 4 pathways | < 100 | |
| 283 | Acquired pure red cell aplasia "Pure red cell aplasia" | 12 trials 2 / 7 / 1 / 3 | 25 drugs [ 17 drugs ] | 15 genes 84 pathways | Incidence per year: 0.3 per one million population | |
| 284 | Diamond-Blackfan anemia | 34 trials 13 / 25 / 3 / 1 | 91 drugs [ 36 drugs ] | 21 genes 106 pathways | About 200 | |
| 285 | Fanconi anemia | 46 trials 21 / 29 / 2 / 0 | 65 drugs [ 27 drugs ] | 25 genes 133 pathways | About 200 | Biobank |
| 286 | Hereditary sideroblastic anemia "Congenital sideroblastic anemia", "Sideroblastic anemia" | 3 trials 0 / 1 / 0 / 0 | 7 drugs [ 4 drugs ] | - | < 100 | |
| 287 | Epstein syndrome | - | - | - | About 200 | |
| 288 | Autoimmune acquired coagulation factor deficiency "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "von Willebrand Disease", "Factor V def ... show all | 84 trials 6 / 17 / 25 / 10 | 115 drugs [ 21 drugs ] | 7 genes 10 pathways | About 700 | |
| 289 | Cronkhite-Canada syndrome | - | - | - | About 500 | |
| 290 | Chronic nonspecific multiple ulcers of the small intestine "Nonspecific multiple ulcers in the small intestine" | 1 trial 1 / 1 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 1 pathway | About 200 | |
| 291 | Hirschsprung disease entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated ent ... show all | 10 trials 0 / 1 / 1 / 1 | 20 drugs [ 12 drugs ] | - | About 10,000 (Among them, entire colon type and small intestine type: About 1,000) | |
| 292 | Cloacal exstrophy "Vesicointestinal fissure" | - | - | - | About 300 | |
| 293 | Persistent cloaca | - | - | - | About 600 | |
| 294 | Congenital diaphragmatic hernia | 7 trials 1 / 1 / 2 / 1 | 12 drugs [ 4 drugs ] | 5 genes 14 pathways | About 5,000 | |
| 295 | Infant huge hepatic hemangioma "Infant giant liver hemangioma" | - | - | - | < 100 | |
| 296 | Biliary atresia | 23 trials 4 / 3 / 1 / 1 | 37 drugs [ 21 drugs ] | 35 genes 35 pathways | About 3,500 | |
| 297 | Alagille syndrome | 13 trials 2 / 4 / 0 / 0 | 13 drugs [ 8 drugs ] | - | About 200~300 | |
| 298 | Hereditary pancreatitis "Chronic pancreatitis" | 79 trials 14 / 22 / 15 / 9 | 116 drugs [ 44 drugs ] | 46 genes 121 pathways | About 300~400 | |
| 299 | Cystic fibrosis | 856 trials 163 / 267 / 186 / 82 | 981 drugs [ 220 drugs ] | 84 genes 158 pathways | < 100 | |
| 300 | IgG4-related disease "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related k ... show all | 20 trials 4 / 5 / 3 / 2 | 19 drugs [ 13 drugs ] | 8 genes 72 pathways | About 8,000 | |
| 301 | Macular dystrophy "Best disease", "Stargardt disease", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy" | 25 trials 14 / 16 / 2 / 0 | 28 drugs [ 7 drugs ] | 6 genes 45 pathways | 1,000 | Animal model |
| 302 | Leber hereditary optic neuropathy | 8 trials 2 / 4 / 4 / 0 | 10 drugs [ 3 drugs ] | 5 genes 30 pathways | Estimated number of new occurrences per year: 117 | |
| 303 | Usher syndrome | 3 trials 2 / 3 / 0 / 0 | 3 drugs [ - ] | - | About 8,160 | |
| 304 | Juvenile-onset bilateral sensorineural hearing loss | - | - | - | About 4,000 | |
| 305 | Delayed endolymphatic hydrops | 2 trials 0 / 0 / 0 / 0 | 2 drugs [ 2 drugs ] | - | About 4,000~5,000 | |
| 306 | Eosinophilic sinusitis | 1 trial 0 / 0 / 0 / 0 | 3 drugs [ 3 drugs ] | 2 genes 8 pathways | About 20,000 | |
| 307 | Canavan disease | 3 trials 1 / 1 / 0 / 0 | 4 drugs [ - ] | - | A few | |
| 308 | Progressive leukoencephalopathy "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, wi ... show all | - | - | - | < 100 | |
| 309 | Progressive myoclonus epilepsy "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" | 4 trials 0 / 0 / 3 / 0 | 10 drugs [ 3 drugs ] | 4 genes 9 pathways | About 3,000 | Biobank |
| 310 | Congenital anomalies syndrome "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" | 8 trials 2 / 6 / 0 / 0 | 13 drugs [ 6 drugs ] | 2 genes 4 pathways | About 4,000 | |
| 311 | Congenital tricuspid stenosis | - | - | - | About 500 | |
| 312 | Congenital mitral stenosis | - | - | - | About 100 | |
| 313 | Congenital pulmonary vein stenosis | - | - | - | About 80 | |
| 314 | Vascular sling | - | - | - | About 600 | |
| 315 | Nail-Patella syndrome "LMX1B-associated nephropathy" | - | - | - | About 500 | |
| 316 | Carnitine cycle disorder "Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "Carnitine-acylc ... show all | 3 trials 0 / 0 / 1 / 0 | 10 drugs [ 4 drugs ] | 2 genes 8 pathways | About 960 | |
| 317 | Trifunctional protein deficiency | 3 trials 0 / 1 / 0 / 0 | 8 drugs [ 4 drugs ] | 1 gene 1 pathway | < 100 | |
| 318 | Citrin deficiency "NICCD", "Adult-onset type II citrullinemia", "CTLN2" | 1 trial 0 / 1 / 0 / 0 | 1 drug [ 1 drug ] | - | About 1,500 | Biobank Animal model |
| 319 | Sepiapterin reductase deficiency | - | - | - | < 100 (About one patient) | |
| 320 | Inherited glycosylphosphatidylinositol deficiency "Congenital glycosylphosphatidylinositol deficiency" | - | - | - | < 100 | |
| 321 | Non-ketotic hyperglycinemia | - | - | - | < 100 | |
| 322 | Beta-ketothiolase deficiency | - | - | - | < 100 | |
| 323 | Aromatic L-amino acid decarboxylase deficiency | - | - | - | < 100 (About 10 cases) | |
| 324 | Methylglutaconic aciduria "3-methylglutaconyl-CoA hydratase deficiency", "Barth syndrome", "Costeff syndrome", "Mitochondrial respiratory chain disorder", "Dilated cardiomyopa ... show all | 2 trials 0 / 2 / 1 / 0 | 2 drugs [ 2 drugs ] | - | < 100 | |
| 325 | Hereditary autoinflammatory syndrome "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "Aicardi-Goutieres syndrome", "A20 haploinsufficiency" | 5 trials 2 / 4 / 0 / 0 | 9 drugs [ 6 drugs ] | 2 genes 32 pathways | < 100 (Adult reported in all cases) | |
| 326 | Osteopetrosis | 16 trials 5 / 11 / 4 / 1 | 33 drugs [ 11 drugs ] | 15 genes 55 pathways | About 100 | Animal model |
| 327 | Idiopathic thrombosis | - | - | - | Based on the national survey of the research group, the total number of in Japan is estimated as about 2,000. Occurrence per year in naonates and infants: < 100, in adult: About 500. | |
| 328 | Anterior segment dysgenesis | - | - | - | About 6,000 | |
| 329 | Aniridia | 3 trials 0 / 2 / 0 / 0 | 2 drugs [ 2 drugs ] | - | About 1,200 | |
| 330 | Congenital tracheal stenosis "Congenital subglottic stenosis" | 1 trial 0 / 1 / 0 / 0 | 3 drugs [ 2 drugs ] | - | About 1,000 | |
| 331 | Idiopathic multicentric castleman disease "Castleman disease" | 18 trials 6 / 10 / 0 / 1 | 37 drugs [ 24 drugs ] | 30 genes 140 pathways | About 1,500 | |
| 332 | Gelatinous drop-like corneal dystrophy | - | - | - | About 400 | |
| 333 | Hutchinson-Gilford syndrome "Hutchinson-Gilford progeria syndrome", "HGPS" | 5 trials 1 / 4 / 1 / 0 | 5 drugs [ 3 drugs ] | 4 genes 6 pathways | < 100 |