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", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome" | 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-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" | 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 amylodosis" | 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", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "Telangiectasia ataxia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "IMyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "CC1r deficiency", "CC1s deficiency", "CC2 deficiency", "CC3 deficiency", "CC4 deficiency", "CC5 deficiency", "CC6 deficiency", "CC7 deficiency", "CC8 deficiency", "CC9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III" | 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", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" | 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 deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "Prolactin deficiency", "PRL deficiency" | 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 Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "Aldosterone synthase deficiency", "P450 oxidoreductase deficiency" | 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", "Schmidt syndrome" | 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 interstitial pneumonia", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "Acute interstitial pneumonia", "Diffuse alveolar damage" | 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-protein induced enterocolitis", "N-FPIES" | 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 neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" | 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 disproportion myopathy" | 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", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "Rigid spine syndrome" | 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", "Dopa-responsive dystonia", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "Alternating hemiplegia of childhood", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT14 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta-propeller protein-associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase-associated neurodegeneration", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" | 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 degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy" | - | - | - | < 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", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome" | - | - | - | About 1,000 | |
| 139 | Congenital cerebral hypomyelination "Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease" | 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 lobe epilepsy" | - | - | - | 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", "Protocadherin 19 (PCDH19)-related epilepsy" | 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 syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome" | - | - | - | 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", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome" | 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 gland failure" | - | - | - | 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 syndrome", "Orofaciodigital syndrome" | 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 glomerulonephritis", "MPGN" | 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 adrenoleukodystrophy", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Refsum disease", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Primary hyperoxaluria type 1", "Acatalasemia", "Acatalasia", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS" | 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 transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome" | 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 synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency" | 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 disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency" | 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 deficiency" | 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 entercolitis" | 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 kidney disease" | 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, with ovarian failure" | - | - | - | < 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-acylcarnitine translocase deficiency", "CACT deficiency", "Carnitine transporter deficiency", "OCTN-2 deficiency" | 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 cardiomyopathy with ataxia syndrome", "DCMA syndrome" | 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 |