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 Disease - 333 intractable diseases designated by the Ministry of Health, Labour and Welfare (MHLW), Japan 

Total:   226 diseases,   15,194 clinical trials,   12,172 drugs (DrugBank: 1,666 drugs),   551 target genes,   275 target pathways
 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) 
 Link 
 (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 
 Animal model
 4  Primary lateral sclerosis 
  
 6 trials 
 3 / 2 / 0 / 1 
 12 drugs 
 [ 7 drugs
 17 genes 
 29 pathways
 
 175 (By the research group)  Biobank 
 Animal model
 5  Progressive supranuclear palsy 
  
 55 trials 
 19 / 18 / 10 / 1 
 78 drugs 
 [ 31 drugs
 59 genes 
 86 pathways
 
 About 8,100  Biobank 
 Animal model
 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 
 Animal model
 7  Corticobasal degeneration 
  "Corticobasal syndrome" 
 15 trials 
 5 / 2 / 1 / 0 
 21 drugs 
 [ 9 drugs
 6 genes 
 13 pathways
 
 3,500  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 13  Multiple sclerosis 
  "Neuromyelitis optica", "Devic disease", "Balo concentric sclerosis", "Baló concentric sclerosis" 
 1,398 trials 
 207 / 412 / 334 / 196 
 1,427 drugs 
 [ 306 drugs
 216 genes 
 210 pathways
 
 17,073  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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 
 Animal model
 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)  Biobank 
 Animal model
 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 
 Animal model
 18  Spinocerebellar degeneration 
  
 14 trials 
 1 / 6 / 6 / 2 
 11 drugs 
 [ 5 drugs
 20 genes 
 11 pathways
 
 25,447  Biobank 
 Animal model
 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  Biobank 
 Animal model
 20  Adrenoleukodystrophy 
  "Adrenomyeloneuropathy" 
 31 trials 
 8 / 16 / 12 / 0 
 60 drugs 
 [ 27 drugs
 17 genes 
 102 pathways
 
 193  Biobank 
 Animal model
 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 
 Animal model
 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  Biobank 
 Animal model
 24  Subacute sclerosing panencephalitis 
  
 -  -  -  About 100  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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 
 Animal model
 27  Idiopathic basal ganglia calcification 
  "Idiopathic basal ganglia calcification disease", "Fahr disease", "FIBGC", "Primary familial brain calcification", "PFBC" 
 -  -  -  200 (By the research group)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 29  Ullrich disease 
  "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" 
 -  -  -  About 300 (By the research group)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 31  Bethlem myopathy 
  "Beth Rem myopathy" 
 -  -  -  < 100 (By the research group)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 33  Schwartz-Jampel syndrome 
  "Schwarz-Yanperu syndrome", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" 
 -  -  -  < 100 (By the research group)  Biobank 
 Animal model
 34  Neurofibromatosis 
  "von Recklinghausen disease" 
 98 trials 
 22 / 65 / 4 / 4 
 130 drugs 
 [ 60 drugs
 84 genes 
 186 pathways
 
 3,588  Biobank 
 Animal model
 35  Pemphigus 
  
 57 trials 
 7 / 24 / 15 / 1 
 81 drugs 
 [ 36 drugs
 17 genes 
 149 pathways
 
 About 6,000  Biobank 
 Animal model
 36  Epidermolysis bullosa 
  "Kindler syndrome" 
 80 trials 
 26 / 51 / 11 / 2 
 118 drugs 
 [ 31 drugs
 27 genes 
 94 pathways
 
 347  Biobank 
 Animal model
 37  Generalised pustular psoriasis 
  "Pustular psoriasis", "Herpetic impetigo" 
 29 trials 
 1 / 7 / 16 / 2 
 34 drugs 
 [ 15 drugs
 16 genes 
 88 pathways
 
 2,072  Biobank 
 Animal model
 38  Stevens-Johnson syndrome 
  "Mucocutaneous ocular syndrome" 
 10 trials 
 5 / 6 / 2 / 1 
 14 drugs 
 [ 8 drugs
 9 genes 
 92 pathways
 
 About 1,500  Biobank 
 Animal model
 39  Toxic epidermal necrolysis 
  "Toxic epidermal necrosis" 
 11 trials 
 4 / 6 / 2 / 1 
 17 drugs 
 [ 9 drugs
 11 genes 
 97 pathways
 
 About 200  Biobank 
 Animal model
 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 
 Animal model
 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)  Biobank 
 Animal model
 42  Polyarteritis nodosa 
  
 9 trials 
 0 / 4 / 1 / 2 
 22 drugs 
 [ 15 drugs
 23 genes 
 48 pathways
 
 [Disease ID 42-43 total] 9,610  Biobank 
 Animal model
 43  Microscopic polyangiitis 
  
 40 trials 
 1 / 15 / 19 / 5 
 51 drugs 
 [ 19 drugs
 13 genes 
 79 pathways
 
 [Disease ID 42-43 total] 9,610  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 47  Buerger disease 
  "Thromboangiitis obliterans" 
 8 trials 
 0 / 3 / 0 / 0 
 11 drugs 
 [ 7 drugs
 3 genes 
 13 pathways
 
 7,109  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 49  Systemic lupus erythematosus 
  
 429 trials 
 99 / 171 / 79 / 35 
 477 drugs 
 [ 150 drugs
 110 genes 
 185 pathways
 
 60,122  Biobank 
 Animal model
 50  Dermatomyositis 
  "Polymyositis" 
 84 trials 
 10 / 31 / 21 / 4 
 124 drugs 
 [ 38 drugs
 47 genes 
 139 pathways
 
 About 19,500  Biobank 
 Animal model
 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 
 Animal model
 52  Mixed connective tissue disease 
  
 3 trials 
 0 / 1 / 1 / 0 
 4 drugs 
 [ 3 drugs
 1 gene 
 1 pathway
 
 11,005  Biobank 
 Animal model
 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 
 Animal model
 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)  Biobank 
 Animal model
 55  Relapsing polychondritis 
  
 6 trials 
 1 / 2 / 0 / 0 
 7 drugs 
 [ 7 drugs
 10 genes 
 54 pathways
 
 About 500 (By the research group)  Biobank 
 Animal model
 56  Behcet disease 
  "Behçet disease" 
 41 trials 
 5 / 15 / 10 / 3 
 63 drugs 
 [ 22 drugs
 33 genes 
 101 pathways
 
 20,035  Biobank 
 Animal model
 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 
 Animal model
 59  Restricted cardiomyopathy 
  "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" 
 -  -  -  50  Biobank 
 Animal model
 60  Aplastic anemia 
  
 184 trials 
 42 / 114 / 21 / 11 
 212 drugs 
 [ 61 drugs
 35 genes 
 136 pathways
 
 10,287  Biobank 
 Animal model
 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  Biobank 
 Animal model
 62  Paroxysmal nocturnal hemoglobinuria 
  
 80 trials 
 8 / 39 / 28 / 2 
 68 drugs 
 [ 26 drugs
 14 genes 
 83 pathways
 
 About 400  Biobank 
 Animal model
 63  Idiopathic thrombocytopenic purpura 
  "Primary immune thrombocytopenia" 
 127 trials 
 15 / 31 / 54 / 15 
 127 drugs 
 [ 32 drugs
 40 genes 
 112 pathways
 
 24,956  Biobank 
 Animal model
 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  Biobank 
 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  Biobank 
 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)  Biobank 
 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  Biobank 
 Animal model
 69  Ossification of posterior longitudinal ligament 
  
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 -  33,346  Biobank 
 Animal model
 70  Spinal stenosis 
  "Extensive spinal canal stenosis" 
 69 trials 
 2 / 9 / 5 / 20 
 104 drugs 
 [ 42 drugs
 56 genes 
 80 pathways
 
 5,944  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 79  Homozygous familial hypercholesterolemia 
  
 54 trials 
 3 / 20 / 29 / 1 
 69 drugs 
 [ 24 drugs
 6 genes 
 14 pathways
 
 140  Biobank 
 Animal model
 80  Resistance to thyroid hormone 
  "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome" 
 -  -  -  About 3,000 (By the research group)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 82  Congenital adrenal hypoplasia 
  "DAX-1 deficiency", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" 
 -  -  -  About 1,000  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 84  Sarcoidosis 
  
 106 trials 
 10 / 44 / 18 / 17 
 161 drugs 
 [ 74 drugs
 81 genes 
 138 pathways
 
 26,763  Biobank 
 Animal model
 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 
 Animal model
 86  Pulmonary arterial hypertension 
  "Eisenmenger Syndrome" 
 505 trials 
 58 / 132 / 141 / 68 
 433 drugs 
 [ 113 drugs
 91 genes 
 178 pathways
 
 2,299  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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 
 Animal model
 91  Budd-Chiari syndrome 
  
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 7 pathways
 
 293  Biobank 
 Animal model
 92  Idiopathic portal hypertension 
  "Banti syndrome" 
 -  -  -  About 1,000  Biobank 
 Animal model
 93  Primary biliary cholangitis 
  "Primary biliary cirrhosis" 
 114 trials 
 14 / 53 / 24 / 9 
 136 drugs 
 [ 42 drugs
 27 genes 
 78 pathways
 
 19,701  Biobank 
 Animal model
 94  Primary sclerosing cholangitis 
  
 68 trials 
 21 / 32 / 10 / 1 
 72 drugs 
 [ 31 drugs
 17 genes 
 121 pathways
 
 About 400  Biobank 
 Animal model
 95  Autoimmune hepatitis 
  
 27 trials 
 4 / 10 / 3 / 7 
 40 drugs 
 [ 23 drugs
 16 genes 
 100 pathways
 
 About 10,000  Biobank 
 Animal model
 96  Crohn disease 
  "Terminal ileitis" 
 890 trials 
 117 / 270 / 234 / 116 
 832 drugs 
 [ 211 drugs
 161 genes 
 201 pathways
 
 36,418  Biobank 
 Animal model
 97  Ulcerative colitis 
  
 820 trials 
 107 / 277 / 234 / 80 
 887 drugs 
 [ 195 drugs
 108 genes 
 166 pathways
 
 143,733  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 100  Megacystis microcolon intestinal hypoperistalsis syndrome 
  "Huge bladder short and small colon intestinal peristalsis deficiency" 
 -  -  -  < 100 (By the research group)  Biobank 
 Animal model
 101  Congenital isolated hypoganglionosis 
  "Intestinal ganglion cells insignificant disease" 
 -  -  -  About 100 (By the research group)  Biobank 
 Animal model
 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 
 Animal model
 103  Cardio-facio-cutaneous syndrome 
  "CFC syndrome" 
 -  -  -  About 200 (By the research group)  Biobank 
 Animal model
 104  Costello syndrome 
  
 -  -  -  About 100 (By the research group)  Biobank 
 Animal model
 105  CHARGE syndrome 
  
 -  -  -  About 5,000 (By the research group)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 109  Atypical hemolytic uremic syndrome 
  
 23 trials 
 0 / 15 / 6 / 1 
 17 drugs 
 [ 3 drugs
 1 gene 
 7 pathways
 
 < 200 (By the research group)  Biobank 
 Animal model
 110  Blau syndrome 
  "Early-onset sarcoidosis", "Systemic granulomatous diseases" 
 -  -  -  < 100 (By the research group)  Biobank 
 Animal model
 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 
 Animal model
 112  Marinesco-Sjogren syndrome 
  "Hereditary cerebellar ataxia-childhood cataracts" 
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 116  Atopic myelitis 
  "Idiopathic eosinophilic myelitis" 
 -  -  -  About 1,000  Biobank 
 Animal model
 117  Syringomyelia 
  
 2 trials 
 0 / 2 / 0 / 0 
 4 drugs 
 [ - ] 
 -  About 3,000  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 119  Isaacs syndrome 
  "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" 
 -  -  -  About 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 121  Neuroferritinopathy 
  
 -  -  -  < 100  Biobank 
 Animal model
 122  Superficial siderosis 
  "Brain table hemosiderosis" 
 2 trials 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 125  Hereditary diffuse leukoencephalopathy with spheroid 
  "Hereditary diffuse leukoencephalopathy" 
 -  -  -  < 100  Biobank 
 Animal model
 126  Perry syndrome 
  
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 128  Bickerstaff brainstem encephalitis 
  
 -  -  -  Occurrence: About 100 per year  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 131  Alexander disease 
  
 -  -  -  < 100  Biobank 
 Animal model
 132  Congenital supranuclear bulbar palsy 
  "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" 
 -  -  -  About 100  Biobank 
 Animal model
 133  Moebius syndrome 
  "Mobius syndrome" 
 -  -  -  About 1,000  Biobank 
 Animal model
 134  Septo-optic dysplasia 
  "De Morsier syndrome" 
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ - ] 
 -  About 500  Biobank 
 Animal model
 135  Aicardi syndrome 
  
 1 trial 
 0 / 1 / 0 / 0 
 9 drugs 
 [ 3 drugs
 -  < 100  Biobank 
 Animal model
 136  Hemimegalencephaly 
  "Unilateral megalencephaly" 
 -  -  -  < 100  Biobank 
 Animal model
 137  Focal cortical dysplasia 
  
 6 trials 
 0 / 4 / 0 / 0 
 4 drugs 
 [ 2 drugs
 1 gene 
 43 pathways
 
 A few thousand  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 140  Dorabe syndrome 
  "Dravet syndrome" 
 34 trials 
 5 / 10 / 16 / 1 
 27 drugs 
 [ 8 drugs
 42 genes 
 53 pathways
 
 About 3,000  Biobank 
 Animal model
 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  Biobank 
 Animal model
 142  Myoclonic absence epilepsy 
  
 -  -  -  < 100  Biobank 
 Animal model
 143  Epilepsy with myoclonic-atonic seizure 
  "Epilepsy with myoclonic cataplexy" 
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 146  Ohtahara syndrome 
  "Early infantile epileptic encephalopathy with suppression burst" 
 -  -  -  [Disease ID 144-148 total] About 4,300  Biobank 
 Animal model
 147  Early myoclonic encephalopathy 
  
 -  -  -  [Disease ID 144-148 total] About 4,300  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 150  Ring chromosome 20 epilepsy syndrome 
  "Ring chromosome 20 syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 151  Rasmussen encephalitis 
  
 2 trials 
 0 / 1 / 1 / 0 
 3 drugs 
 [ 2 drugs
 6 genes 
 80 pathways
 
 < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 156  Rett syndrome 
  
 27 trials 
 3 / 19 / 4 / 0 
 34 drugs 
 [ 16 drugs
 69 genes 
 105 pathways
 
 About 1,000  Biobank 
 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  Biobank 
 Animal model
 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 
 Animal model
 159  Xeroderma pigmentosum 
  
 4 trials 
 0 / 1 / 1 / 0 
 8 drugs 
 [ 2 drugs
 2 genes 
 8 pathways
 
 About 300~600  Biobank 
 Animal model
 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 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 163  Idiopathic pure sudomotor failure 
  "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" 
 -  -  -  About 100~200  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 165  Pachydermoperiostosis 
  
 -  -  -  < 100  Biobank 
 Animal model
 166  Pseudoxanthoma elasticum 
  
 9 trials 
 1 / 7 / 2 / 0 
 17 drugs 
 [ 5 drugs
 5 genes 
 25 pathways
 
 About 300  Biobank 
 Animal model
 167  Marfan syndrome 
  
 14 trials 
 0 / 2 / 7 / 0 
 28 drugs 
 [ 10 drugs
 10 genes 
 45 pathways
 
 About 15,000~20,000  Biobank 
 Animal model
 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 
 Animal model
 170  Occipital horn syndrome 
  
 1 trial 
 0 / 0 / 1 / 0 
 3 drugs 
 [ 3 drugs
 -  < 100  Biobank 
 Animal model
 171  Wilson disease 
  
 25 trials 
 2 / 4 / 11 / 3 
 29 drugs 
 [ 15 drugs
 -  About 3,000  Biobank 
 Animal model
 172  Hypophosphatasia 
  
 22 trials 
 4 / 15 / 2 / 2 
 12 drugs 
 [ 5 drugs
 3 genes 
 5 pathways
 
 About 100~200  Biobank 
 Animal model
 173  VATER syndrome 
  "VATER association", "VACTERL association" 
 -  -  -  About 500  Biobank 
 Animal model
 174  Nasu-Hakola disease 
  "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" 
 -  -  -  About 200  Biobank 
 Animal model
 175  Weaver syndrome 
  
 -  -  -  < 100  Biobank 
 Animal model
 176  Coffin-Lowry syndrome 
  
 -  -  -  One patient per tens of thousand population  Biobank 
 Animal model
 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  Biobank 
 Animal model
 178  Mowat-Wilson syndrome 
  
 -  -  -  About 1,000  Biobank 
 Animal model
 179  Williams syndrome 
  
 4 trials 
 0 / 0 / 0 / 1 
 12 drugs 
 [ 7 drugs
 8 genes 
 29 pathways
 
 Occurrence: One patient per twenty thousand population  Biobank 
 Animal model
 180  ATR-X syndrome 
  "Alpha-thalassemia mental retardation syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 181  Crouzon syndrome 
  
 -  -  -  [Disease ID 181-184 total] About 900  Biobank 
 Animal model
 182  Apert syndrome 
  
 -  -  -  [Disease ID 181-184 total] About 900  Biobank 
 Animal model
 183  Pfeiffer syndrome 
  
 -  -  -  [Disease ID 181-184 total] About 900  Biobank 
 Animal model
 184  Antley-Bixler syndrome 
  
 -  -  -  [Disease ID 181-184 total] About 900  Biobank 
 Animal model
 185  Coffin-Siris syndrome 
  
 -  -  -  < 100  Biobank 
 Animal model
 186  Rothmund-Thomson syndrome 
  "RAPADILINO syndrome", "Baller-Gerold syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 187  Kabuki syndrome 
  
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 2 genes 
 11 pathways
 
 About 3,000~4,000  Biobank 
 Animal model
 188  Polysplenia syndrome 
  
 -  -  -  [Disease ID 188-189 total] About 2,000  Biobank 
 Animal model
 189  Asplenia syndrome 
  
 -  -  -  [Disease ID 188-189 total] About 2,000  Biobank 
 Animal model
 190  Branchio-oto-renal syndrome 
  "BOR syndrome" 
 -  -  -  About 300  Biobank 
 Animal model
 191  Werner syndrome 
  
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 5 pathways
 
 About 2,000  Biobank 
 Animal model
 192  Cockayne syndrome 
  
 4 trials 
 1 / 3 / 0 / 0 
 7 drugs 
 [ 3 drugs
 1 gene 
 43 pathways
 
 < 100  Biobank 
 Animal model
 193  Prader-Willi syndrome 
  
 72 trials 
 6 / 25 / 23 / 8 
 77 drugs 
 [ 26 drugs
 49 genes 
 59 pathways
 
 About 1,000  Biobank 
 Animal model
 194  Sotos syndrome 
  
 -  -  -  About 2,500  Biobank 
 Animal model
 195  Noonan syndrome 
  
 10 trials 
 0 / 2 / 5 / 0 
 11 drugs 
 [ 4 drugs
 2 genes 
 9 pathways
 
 About 600  Biobank 
 Animal model
 196  Young-Simpson syndrome 
  
 -  -  -  About 100  Biobank 
 Animal model
 197  1p36 deletion syndrome 
  
 -  -  -  About 100  Biobank 
 Animal model
 198  4p deletion syndrome 
  "4p-syndrome" 
 -  -  -  < about 1,000  Biobank 
 Animal model
 199  5p deletion syndrome 
  "5p-syndrome" 
 -  -  -  < about 1,000 (One per fifty thousand born, probably < 1,000 estimated)  Biobank 
 Animal model
 200  Paternal uniparental disomy of chromosome 14 
  "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 201  Angelman syndrome 
  
 12 trials 
 2 / 4 / 2 / 0 
 15 drugs 
 [ 7 drugs
 22 genes 
 20 pathways
 
 500~1,000  Biobank 
 Animal model
 202  Smith-Magenis syndrome 
  
 6 trials 
 2 / 2 / 2 / 0 
 6 drugs 
 [ 3 drugs
 2 genes 
 2 pathways
 
 < 100  Biobank 
 Animal model
 203  22q11.2 deletion syndrome 
  
 1 trial 
 1 / 0 / 0 / 0 
 1 drug 
 [ - ] 
 -  About 4,500  Biobank 
 Animal model
 204  Emanuel syndrome 
  "Derivative 22 syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 206  Fragile X syndrome 
  
 58 trials 
 9 / 32 / 10 / 3 
 58 drugs 
 [ 25 drugs
 44 genes 
 54 pathways
 
 [Disease ID 205-206 total] < 100  Biobank 
 Animal model
 207  Persistent truncus arteriosus 
  
 -  -  -  About 500  Biobank 
 Animal model
 208  Corrected transposition of great arteries 
  
 -  -  -  [Disease ID 208-209 total] About 900  Biobank 
 Animal model
 209  Complete transposition of great vessel 
  "Complete transposition of great arteries" 
 -  -  -  [Disease ID 208-209 total] About 900  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 216  Double outlet right ventricle 
  
 -  -  -  [Disease ID 214-216 total] About 5,500 (Patients of tetralogy of Fallot related diseases)  Biobank 
 Animal model
 217  Ebstein disease 
  "Ebstein malformation" 
 -  -  -  About 300  Biobank 
 Animal model
 218  Alport syndrome 
  
 8 trials 
 1 / 3 / 3 / 0 
 15 drugs 
 [ 8 drugs
 5 genes 
 25 pathways
 
 About 1,200  Biobank 
 Animal model
 219  Galloway-Mowat syndrome 
  
 -  -  -  About 200  Biobank 
 Animal model
 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  Biobank 
 Animal model
 221  Anti-glomerular basement membrane disease 
  
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 -  About 200~400  Biobank 
 Animal model
 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  Biobank 
 Animal model
 223  Primary membranoproliferative glomerulonephritis 
  "Dense deposit disease" 
 13 trials 
 4 / 8 / 1 / 0 
 12 drugs 
 [ 5 drugs
 10 genes 
 38 pathways
 
 About 1,000  Biobank 
 Animal model
 224  Purpura nephritis 
  
 7 trials 
 1 / 3 / 0 / 1 
 31 drugs 
 [ 17 drugs
 15 genes 
 51 pathways
 
 400~640 cases / year  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 228  Bronchiolitis obliterans 
  "Obliterating bronchiolitis" 
 57 trials 
 8 / 24 / 14 / 6 
 78 drugs 
 [ 34 drugs
 33 genes 
 145 pathways
 
 About 300~500  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 230  Alveolar hypoventilation syndrome 
  "Hypoventilation syndrome" 
 5 trials 
 0 / 1 / 2 / 0 
 5 drugs 
 [ 3 drugs
 16 genes 
 25 pathways
 
 About 3,000  Biobank 
 Animal model
 231  Alpha-1-antitrypsin deficiency 
  "AATD" 
 38 trials 
 9 / 21 / 11 / 1 
 56 drugs 
 [ 17 drugs
 43 genes 
 49 pathways
 
 < 100  Biobank 
 Animal model
 232  Carney complex 
  
 1 trial 
 0 / 1 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 29 pathways
 
 < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 235  Hypoparathyroidism 
  "Accessory thyroid hypergasia disease" 
 44 trials 
 7 / 7 / 14 / 9 
 59 drugs 
 [ 18 drugs
 4 genes 
 5 pathways
 
 About 900  Biobank 
 Animal model
 236  Pseudohypoparathyroidism 
  
 4 trials 
 0 / 2 / 0 / 1 
 3 drugs 
 [ 2 drugs
 20 genes 
 28 pathways
 
 About 400  Biobank 
 Animal model
 237  ACTH unresponsiveness 
  "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 239  Vitamin D-dependent rickets 
  "Vitamin D-dependent osteomalacia", "VDDR" 
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 242  Hypertyrosinemia type II 
  "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" 
 -  -  -  [Disease ID 241-243 total] < 100  Biobank 
 Animal model
 243  Hypertyrosinemia type III 
  "High tyrosinemia", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" 
 -  -  -  [Disease ID 241-243 total] < 100  Biobank 
 Animal model
 244  Maple syrup urine disease 
  "MSUD" 
 1 trial 
 0 / 1 / 1 / 0 
 1 drug 
 [ 1 drug
 -  About 100  Biobank 
 Animal model
 245  Propionic acidemia 
  
 5 trials 
 1 / 3 / 1 / 0 
 9 drugs 
 [ 4 drugs
 1 gene 
 6 pathways
 
 About 300  Biobank 
 Animal model
 246  Methylmalonic acidemia 
  
 6 trials 
 1 / 5 / 1 / 0 
 16 drugs 
 [ 2 drugs
 1 gene 
 6 pathways
 
 About 300  Biobank 
 Animal model
 247  Isovaleric acidemia 
  "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" 
 -  -  -  < 100  Biobank 
 Animal model
 248  Glucose transporter type 1 deficiency 
  "GLUT1 deficiency" 
 18 trials 
 4 / 10 / 3 / 0 
 7 drugs 
 [ 1 drug
 -  < 100  Biobank 
 Animal model
 249  Glutaric acidemia type 1 
  
 -  -  -  < 100  Biobank 
 Animal model
 250  Glutaric acidemia type 2 
  "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" 
 -  -  -  < 100  Biobank 
 Animal model
 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;  Biobank 
 Animal model
 252  Lysinuric protein intolerance 
  
 -  -  -  < 100  Biobank 
 Animal model
 253  Congenital folate malabsorption 
  "Hereditary folate malabsorption", "Folate malabsorption" 
 -  -  -  < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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;  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 258  Galactose-1-phosphate uridylyltransferase deficiency 
  "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" 
 -  -  -  < 100  Biobank 
 Animal model
 259  Lecithin-cholesterol acyltransferase deficiency 
  "LCAT deficiency", "Fish-eye disease" 
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 -  < 100  Biobank 
 Animal model
 260  Sitosterolemia 
  
 12 trials 
 0 / 1 / 5 / 0 
 11 drugs 
 [ 4 drugs
 1 gene 
 1 pathway
 
 < 100  Biobank 
 Animal model
 261  Tangier disease 
  
 1 trial 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 1 drug
 -  < 100  Biobank 
 Animal model
 262  Primary hyperchylomicronemia 
  
 -  -  -  About 300  Biobank 
 Animal model
 263  Cerebrotendinous xanthomatosis 
  "27-hydroxylase deficiency", "CYP27 deficiency" 
 3 trials 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 2 drugs
 2 genes 
 4 pathways
 
 < 100  Biobank 
 Animal model
 264  Abetalipoproteinemia 
  "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" 
 -  -  -  < 100 (Only a few pedigrees in Japan since the first report in 1,983)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 266  Familial mediterranean fever 
  
 16 trials 
 1 / 7 / 2 / 2 
 14 drugs 
 [ 6 drugs
 14 genes 
 52 pathways
 
 About 300  Biobank 
 Animal model
 267  Hyper-IgD syndrome 
  "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 268  Nakajo-Nishimura syndrome 
  "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" 
 -  -  -  < 100  Biobank 
 Animal model
 269  Pyogenic arthritis 
  "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" 
 18 trials 
 1 / 10 / 6 / 0 
 22 drugs 
 [ 11 drugs
 12 genes 
 88 pathways
 
 < 100  Biobank 
 Animal model
 270  Chronic recurrent multifocal osteomyelitis 
  
 -  -  -  < 100  Biobank 
 Animal model
 271  Ankylosing spondylitis 
  "Spondylarthritis ankylopoietica" 
 254 trials 
 13 / 53 / 84 / 54 
 252 drugs 
 [ 59 drugs
 36 genes 
 130 pathways
 
 About 4,500  Biobank 
 Animal model
 272  Fibrodysplasia ossificans progressiva 
  
 9 trials 
 1 / 7 / 2 / 0 
 7 drugs 
 [ 2 drugs
 8 genes 
 42 pathways
 
 < 100  Biobank 
 Animal model
 273  Congenital scoliosis with rib anomaly 
  "Congenital scoliosis" 
 -  -  -  < about 2,000 (Children under 11)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 Animal model
 281  Klippel-Trenaunay-Weber syndrome 
  
 1 trial 
 0 / 0 / 0 / 0 
 1 drug 
 [ 1 drug
 1 gene 
 43 pathways
 
 About 3,000  Biobank 
 Animal model
 282  Congenital dyserythropoietic anemia 
  
 1 trial 
 0 / 0 / 0 / 1 
 1 drug 
 [ 1 drug
 2 genes 
 4 pathways
 
 < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 284  Diamond-Blackfan anemia 
  
 34 trials 
 13 / 25 / 3 / 1 
 91 drugs 
 [ 36 drugs
 21 genes 
 106 pathways
 
 About 200  Biobank 
 Animal model
 285  Fanconi anemia 
  
 46 trials 
 21 / 29 / 2 / 0 
 65 drugs 
 [ 27 drugs
 25 genes 
 133 pathways
 
 About 200  Biobank 
 Animal model
 286  Hereditary sideroblastic anemia 
  "Congenital sideroblastic anemia", "Sideroblastic anemia" 
 3 trials 
 0 / 1 / 0 / 0 
 7 drugs 
 [ 4 drugs
 -  < 100  Biobank 
 Animal model
 287  Epstein syndrome 
  
 -  -  -  About 200  Biobank 
 Animal model
 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  Biobank 
 Animal model
 289  Cronkhite-Canada syndrome 
  
 -  -  -  About 500  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 292  Cloacal exstrophy 
  "Vesicointestinal fissure" 
 -  -  -  About 300  Biobank 
 Animal model
 293  Persistent cloaca 
  
 -  -  -  About 600  Biobank 
 Animal model
 294  Congenital diaphragmatic hernia 
  
 7 trials 
 1 / 1 / 2 / 1 
 12 drugs 
 [ 4 drugs
 5 genes 
 14 pathways
 
 About 5,000  Biobank 
 Animal model
 295  Infant huge hepatic hemangioma 
  "Infant giant liver hemangioma" 
 -  -  -  < 100  Biobank 
 Animal model
 296  Biliary atresia 
  
 23 trials 
 4 / 3 / 1 / 1 
 37 drugs 
 [ 21 drugs
 35 genes 
 35 pathways
 
 About 3,500  Biobank 
 Animal model
 297  Alagille syndrome 
  
 13 trials 
 2 / 4 / 0 / 0 
 13 drugs 
 [ 8 drugs
 -  About 200~300  Biobank 
 Animal model
 298  Hereditary pancreatitis 
  "Chronic pancreatitis" 
 79 trials 
 14 / 22 / 15 / 9 
 116 drugs 
 [ 44 drugs
 46 genes 
 121 pathways
 
 About 300~400  Biobank 
 Animal model
 299  Cystic fibrosis 
  
 856 trials 
 163 / 267 / 186 / 82 
 981 drugs 
 [ 220 drugs
 84 genes 
 158 pathways
 
 < 100  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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  Biobank 
 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  Biobank 
 Animal model
 303  Usher syndrome 
  
 3 trials 
 2 / 3 / 0 / 0 
 3 drugs 
 [ - ] 
 -  About 8,160  Biobank 
 Animal model
 304  Juvenile-onset bilateral sensorineural hearing loss 
  
 -  -  -  About 4,000  Biobank 
 Animal model
 305  Delayed endolymphatic hydrops 
  
 2 trials 
 0 / 0 / 0 / 0 
 2 drugs 
 [ 2 drugs
 -  About 4,000~5,000  Biobank 
 Animal model
 306  Eosinophilic sinusitis 
  
 1 trial 
 0 / 0 / 0 / 0 
 3 drugs 
 [ 3 drugs
 2 genes 
 8 pathways
 
 About 20,000  Biobank 
 Animal model
 307  Canavan disease 
  
 3 trials 
 1 / 1 / 0 / 0 
 4 drugs 
 [ - ] 
 -  A few  Biobank 
 Animal model
 308  Progressive leukoencephalopathy 
  "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure" 
 -  -  -  < 100  Biobank 
 Animal model
 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 
 Animal model
 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  Biobank 
 Animal model
 311  Congenital tricuspid stenosis 
  
 -  -  -  About 500  Biobank 
 Animal model
 312  Congenital mitral stenosis 
  
 -  -  -  About 100  Biobank 
 Animal model
 313  Congenital pulmonary vein stenosis 
  
 -  -  -  About 80  Biobank 
 Animal model
 314  Vascular sling 
  
 -  -  -  About 600  Biobank 
 Animal model
 315  Nail-Patella syndrome 
  "LMX1B-associated nephropathy" 
 -  -  -  About 500  Biobank 
 Animal model
 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  Biobank 
 Animal model
 317  Trifunctional protein deficiency 
  
 3 trials 
 0 / 1 / 0 / 0 
 8 drugs 
 [ 4 drugs
 1 gene 
 1 pathway
 
 < 100  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 320  Inherited glycosylphosphatidylinositol deficiency 
  "Congenital glycosylphosphatidylinositol deficiency" 
 -  -  -  < 100  Biobank 
 Animal model
 321  Non-ketotic hyperglycinemia 
  
 -  -  -  < 100  Biobank 
 Animal model
 322  Beta-ketothiolase deficiency 
  
 -  -  -  < 100  Biobank 
 Animal model
 323  Aromatic L-amino acid decarboxylase deficiency 
  
 -  -  -  < 100 (About 10 cases)  Biobank 
 Animal model
 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  Biobank 
 Animal model
 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)  Biobank 
 Animal model
 326  Osteopetrosis 
  
 16 trials 
 5 / 11 / 4 / 1 
 33 drugs 
 [ 11 drugs
 15 genes 
 55 pathways
 
 About 100  Biobank 
 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.  Biobank 
 Animal model
 328  Anterior segment dysgenesis 
  
 -  -  -  About 6,000  Biobank 
 Animal model
 329  Aniridia 
  
 3 trials 
 0 / 2 / 0 / 0 
 2 drugs 
 [ 2 drugs
 -  About 1,200  Biobank 
 Animal model
 330  Congenital tracheal stenosis 
  "Congenital subglottic stenosis" 
 1 trial 
 0 / 1 / 0 / 0 
 3 drugs 
 [ 2 drugs
 -  About 1,000  Biobank 
 Animal model
 331  Idiopathic multicentric castleman disease 
  "Castleman disease" 
 18 trials 
 6 / 10 / 0 / 1 
 37 drugs 
 [ 24 drugs
 30 genes 
 140 pathways
 
 About 1,500  Biobank 
 Animal model
 332  Gelatinous drop-like corneal dystrophy 
  
 -  -  -  About 400  Biobank 
 Animal model
 333  Hutchinson-Gilford syndrome 
  "Hutchinson-Gilford progeria syndrome", "HGPS" 
 5 trials 
 1 / 4 / 1 / 0 
 5 drugs 
 [ 3 drugs
 4 genes 
 6 pathways
 
 < 100  Biobank 
 Animal model

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