Disease - Clinical trilas for the 333 intractable diseases designated by the Ministry of Health, Labour and Welfare (MHLW), Japan💬 Info on mouse-over

ID	Disease name	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients (1) MHLW, (2) Med expenses recipients (FY2020)	Related info (in Japanese)
1	Spinal and bulbar muscular atrophy "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome"	17 trials   0 / 9 / 2 / 1 💬	16 drugs   [ 8 drugs ]	10 genes   15 pathways	(1) 1,223 patients (2) 1,622 patients Age distribution💬	Biobank Animal model
2	Amyotrophic lateral sclerosis "ALS"	508 trials   252 / 235 / 151 / 35 💬	530 drugs   [ 146 drugs ]	170 genes   221 pathways	(1) 9,096 patients (2) 10,514 patients Age distribution💬	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"	179 trials   141 / 107 / 75 / 28 💬	102 drugs   [ 26 drugs ]	52 genes   78 pathways	(1) 712 patients (2) 921 patients Age distribution💬	Biobank Pediatric diseases
4	Primary lateral sclerosis "PLS"	6 trials   3 / 2 / 0 / 1 💬	16 drugs   [ 8 drugs ]	19 genes   32 pathways	(1) 175 patients (By the research group) (2) 127 patients Age distribution💬	Biobank
5	Progressive supranuclear palsy "PSP"	82 trials   48 / 35 / 12 / 6 💬	107 drugs   [ 36 drugs ]	60 genes   90 pathways	(1) About 8,100 patients (2) 12,766 patients Age distribution💬	Biobank
6	Parkinson disease	2,123 trials   864 / 632 / 514 / 272 💬	2,046 drugs   [ 324 drugs ]	183 genes   198 pathways	(1) About 108,800 patients (estimated from Parkinson disease related diseases) (2) 142,375 patients Age distribution💬	Biobank
7	Corticobasal degeneration "Corticobasal syndrome", "CBD"	16 trials   5 / 2 / 1 / 0 💬	33 drugs   [ 11 drugs ]	6 genes   13 pathways	(1) 3,500 patients (2) 4,749 patients Age distribution💬
8	Huntington disease "Huntington chorea"	197 trials   127 / 103 / 42 / 20 💬	171 drugs   [ 54 drugs ]	82 genes   144 pathways	(1) 933 patients (2) 950 patients Age distribution💬	Biobank Animal model
9	Neuroacanthocytosis "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome"	-	-	-	(1) Less than 100 patients (By the research group) (2) 33 patients Age distribution💬	Pediatric diseases
10	Charcot-Marie-Tooth disease "CMT"	31 trials   23 / 16 / 16 / 4 💬	38 drugs   [ 9 drugs ]	11 genes   14 pathways	(1) 6,250 patients (By the research group) (2) 774 patients Age distribution💬	Biobank Animal model Pediatric diseases
11	Myasthenia "MG"	226 trials   159 / 88 / 117 / 37 💬	172 drugs   [ 45 drugs ]	43 genes   118 pathways	(1) 22,998 patients (2) 25,416 patients Age distribution💬	Pediatric diseases
12	Congenital myasthenic syndrome "End-plate acetylcholine receptor deficiency", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Dok-7 myasthenia"	5 trials   1 / 0 / 0 / 0 💬	7 drugs   [ 3 drugs ]	5 genes   12 pathways	(1) Less than 100 patients (By the research group) (2) 12 patients Age distribution💬
13	Multiple sclerosis/Neuromyelitis optica "Multiple sclerosis", "Neuromyelitis optica", "MS", "NMOSD", "Devic disease", "Balo concentric sclerosis", "Baló concentric sclerosis"	3,050 trials   1316 / 758 / 1042 / 507 💬	2,147 drugs   [ 348 drugs ]	244 genes   228 pathways	(1) 17,073 patients (2) 21,437 patients Age distribution💬	Biobank Pediatric diseases
14	Chronic inflammatory demyelinating polyneuropathy "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "Multifocal motor neuropathy", "CIDP"	145 trials   60 / 69 / 71 / 18 💬	139 drugs   [ 23 drugs ]	12 genes   21 pathways	(1) 4,633 patients (2) 5,158 patients Age distribution💬	Pediatric diseases
15	Inclusion body myositis	39 trials   30 / 18 / 23 / 5 💬	32 drugs   [ 11 drugs ]	11 genes   119 pathways	(1) 1,000 patients (By the research group) (2) 690 patients Age distribution💬	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"	12 trials   0 / 9 / 2 / 0 💬	18 drugs   [ 8 drugs ]	5 genes   79 pathways	(1) 340 patients (By the research group) (2) 215 patients Age distribution💬
17	Multiple system atrophy "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome"	107 trials   79 / 34 / 40 / 13 💬	153 drugs   [ 48 drugs ]	59 genes   104 pathways	(1) 11,733 patients (2) 11,694 patients Age distribution💬	Biobank
18	Spinocerebellar degeneration "SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH"	59 trials   15 / 32 / 14 / 4 💬	78 drugs   [ 28 drugs ]	44 genes   59 pathways	(1) 25,447 patients (2) 27,365 patients Age distribution💬	Pediatric diseases
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"	784 trials   555 / 331 / 272 / 125 💬	673 drugs   [ 101 drugs ]	68 genes   184 pathways	(1) 911 patients (2) 1,529 patients Age distribution💬	Animal model Pediatric diseases
20	Adrenoleukodystrophy "Adrenomyeloneuropathy", "AMN"	49 trials   44 / 30 / 26 / 7 💬	86 drugs   [ 29 drugs ]	18 genes   112 pathways	(1) 193 patients (2) 255 patients Age distribution💬	Pediatric diseases
21	Mitochondrial disease	23 trials   6 / 12 / 4 / 1 💬	29 drugs   [ 28 drugs ]	44 genes   65 pathways	(1) 1,087 patients (2) 1,602 patients Age distribution💬	Biobank Animal model Pediatric diseases
22	Moyamoya disease "Occlusive disease in circle of Willis"	11 trials   1 / 1 / 1 / 2 💬	18 drugs   [ 11 drugs ]	28 genes   43 pathways	(1) 15,177 patients (2) 13,894 patients Age distribution💬	Biobank Pediatric diseases
23	Prion disease "Creutzfeldt-Jakob disease", "CJD", "Gerstmann-Straussler-Scheinker syndrome", "Fatal familial insomnia", "Kuru disease"	4 trials   0 / 1 / 0 / 0 💬	5 drugs   [ 2 drugs ]	-	(1) 584 patients (2) 481 patients Age distribution💬
24	Subacute sclerosing panencephalitis "SSPE"	-	-	-	(1) About 100 patients (2) 72 patients Age distribution💬	Biobank Pediatric diseases
25	Progressive multifocal leukoencephalopathy "PML", "Leukoencephalopathy, progressive multifocal"	23 trials   2 / 5 / 0 / 2 💬	33 drugs   [ 20 drugs ]	7 genes   36 pathways	(1) Less than 100 patients (By the research group) (2) 59 patients Age distribution💬
26	HTLV-1-associated myelopathy "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy"	26 trials   8 / 13 / 10 / 0 💬	46 drugs   [ 27 drugs ]	37 genes   123 pathways	(1) 3,000 patients (By the research group) (2) 1,027 patients Age distribution💬	Biobank
27	Idiopathic basal ganglia calcification "IBGC", "Fahr disease", "FIBGC", "Primary familial brain calcification", "PFBC"	-	-	-	(1) 200 patients (By the research group) (2) 115 patients Age distribution💬
28	Systemic amyloidosis "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis"	212 trials   102 / 97 / 78 / 16 💬	234 drugs   [ 72 drugs ]	54 genes   170 pathways	(1) 1,802 patients (2) 3,892 patients Age distribution💬	Pediatric diseases
29	Ullrich disease "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"	-	-	-	(1) About 300 patients (By the research group) (2) 22 patients Age distribution💬	Pediatric diseases
30	Distal myopathy "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"	13 trials   1 / 5 / 10 / 0 💬	16 drugs   [ 3 drugs ]	1 gene   1 pathway	(1) 400 patients (By the research group) (2) 295 patients Age distribution💬	Animal model
31	Bethlem myopathy "Beth Rem myopathy"	-	-	-	(1) Less than 100 patients (By the research group) (2) 16 patients Age distribution💬	Pediatric diseases
32	Autophagic vacuolar myopathy "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA"	1 trial   1 / 0 / 0 / 0 💬	1 drug   [ - ]	-	(1) Less than 100 patients (By the research group) (2) 8 patients Age distribution💬	Pediatric diseases
33	Schwartz-Jampel syndrome "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome"	-	-	-	(1) Less than 100 patients (By the research group) (2) 1 patient Age distribution💬	Pediatric diseases
34	Neurofibromatosis "NF1", "von Recklinghausen disease", "NF2"	120 trials   47 / 79 / 9 / 8 💬	182 drugs   [ 72 drugs ]	84 genes   194 pathways	(1) 3,588 patients (2) 4,218 patients Age distribution💬	Biobank Pediatric diseases
35	Pemphigus	87 trials   59 / 36 / 41 / 10 💬	114 drugs   [ 37 drugs ]	17 genes   158 pathways	(1) About 6,000 patients (2) 3,515 patients Age distribution💬	Biobank
36	Epidermolysis bullosa "EBS", "JEB", "DDEB", "RDEB", "Kindler syndrome"	147 trials   110 / 86 / 50 / 16 💬	170 drugs   [ 40 drugs ]	32 genes   113 pathways	(1) 347 patients (2) 309 patients Age distribution💬	Biobank Pediatric diseases
37	Generalised pustular psoriasis "Pustular psoriasis", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities"	58 trials   41 / 24 / 32 / 11 💬	50 drugs   [ 18 drugs ]	17 genes   96 pathways	(1) 2,072 patients (2) 2,058 patients Age distribution💬	Pediatric diseases
38	Stevens-Johnson syndrome "SJS", "Mucocutaneous ocular syndrome"	11 trials   10 / 7 / 3 / 2 💬	19 drugs   [ 8 drugs ]	14 genes   98 pathways	(1) About 1,500 patients (2) 219 patients Age distribution💬	Pediatric diseases
39	Toxic epidermal necrolysis "Toxic epidermal necrosis", "TEN"	11 trials   4 / 6 / 2 / 1 💬	18 drugs   [ 8 drugs ]	11 genes   101 pathways	(1) About 200 patients (2) 68 patients Age distribution💬	Pediatric diseases
40	Takayasu arteritis "Aortitis syndrome", "Pulseless disease"	22 trials   1 / 4 / 6 / 2 💬	46 drugs   [ 20 drugs ]	22 genes   111 pathways	(1) About 7,000 patients (2) 4,730 patients Age distribution💬	Biobank Pediatric diseases
41	Giant cell arteritis "Temporal arteritis"	108 trials   94 / 42 / 64 / 21 💬	111 drugs   [ 32 drugs ]	33 genes   121 pathways	(1) About 700 patients (By the research group) (2) 1,716 patients Age distribution💬
42	Polyarteritis nodosa "PAN"	14 trials   0 / 5 / 6 / 2 💬	27 drugs   [ 16 drugs ]	26 genes   102 pathways	(1) [Disease ID 42-43 total] 9,610 patients (2) 2,347 patients Age distribution💬	Pediatric diseases
43	Microscopic polyangiitis "MPA"	85 trials   76 / 39 / 42 / 24 💬	80 drugs   [ 19 drugs ]	13 genes   85 pathways	(1) [Disease ID 42-43 total] 9,610 patients (2) 10,681 patients Age distribution💬	Pediatric diseases
44	Wegener granulomatosis "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis"	84 trials   86 / 35 / 48 / 25 💬	88 drugs   [ 22 drugs ]	13 genes   37 pathways	(1) 1,942 patients (2) 3,196 patients Age distribution💬	Pediatric diseases
45	Eosinophilic granulomatosis with Polyangiitis "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "Churg-Strauss syndrome"	27 trials   8 / 7 / 12 / 5 💬	41 drugs   [ 18 drugs ]	18 genes   98 pathways	(1) About 1,800 patients (By the research group) (2) 5,162 patients Age distribution💬	Pediatric diseases
46	Malignant rheumatoid arthritis "Rheumatoid arthritis", "Rheumatoid arthritis with vasculitis"	4,183 trials   1485 / 924 / 1128 / 635 💬	2,538 drugs   [ 401 drugs ]	183 genes   219 pathways	(1) 6,255 patients (2) 5,281 patients Age distribution💬
47	Buerger disease "Thromboangiitis obliterans"	7 trials   0 / 3 / 0 / 0 💬	9 drugs   [ 4 drugs ]	4 genes   13 pathways	(1) 7,109 patients (2) 2,259 patients Age distribution💬	Biobank
48	Primary antiphospholipid syndrome "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS"	3 trials   0 / 0 / 1 / 0 💬	4 drugs   [ 3 drugs ]	-	(1) About 10,000 patients (By the research group) (2) 797 patients Age distribution💬	Pediatric diseases
49	Systemic lupus erythematosus "SLE"	827 trials   503 / 335 / 223 / 123 💬	638 drugs   [ 168 drugs ]	108 genes   191 pathways	(1) 60,122 patients (2) 64,468 patients Age distribution💬	Animal model Pediatric diseases
50	Dermatomyositis "Polymyositis"	157 trials   85 / 65 / 48 / 21 💬	207 drugs   [ 76 drugs ]	47 genes   142 pathways	(1) About 19,500 patients (2) 24,894 patients Age distribution💬	Biobank Pediatric diseases
51	Scleroderma "Systemic sclerosis", "SSc", "dcSSc", "lcSSc"	466 trials   296 / 217 / 142 / 68 💬	536 drugs   [ 142 drugs ]	110 genes   210 pathways	(1) About 20,000 patients estimated though the latest number of patients unknown (2) 27,647 patients Age distribution💬	Biobank Pediatric diseases
52	Mixed connective tissue disease	4 trials   0 / 1 / 1 / 0 💬	6 drugs   [ 3 drugs ]	1 gene   1 pathway	(1) 11,005 patients (2) 10,182 patients Age distribution💬	Pediatric diseases
53	Sjogren syndrome "Sjögren syndrome"	234 trials   103 / 141 / 35 / 31 💬	270 drugs   [ 85 drugs ]	49 genes   174 pathways	(1) About 66,300 patients (By the research group) (2) 17,628 patients Age distribution💬	Biobank Pediatric diseases
54	Adult still disease "Adult-onset Stills disease"	2 trials   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	1 gene   12 pathways	(1) About 4,800 patients (By the research group) (2) 4,148 patients Age distribution💬
55	Relapsing polychondritis	7 trials   1 / 3 / 0 / 0 💬	10 drugs   [ 9 drugs ]	12 genes   98 pathways	(1) About 500 patients (By the research group) (2) 840 patients Age distribution💬	Pediatric diseases
56	Behcet disease "Behçet disease"	68 trials   10 / 20 / 18 / 5 💬	87 drugs   [ 31 drugs ]	36 genes   113 pathways	(1) 20,035 patients (2) 15,537 patients Age distribution💬	Pediatric diseases
57	Idiopathic dilated cardiomyopathy	12 trials   3 / 6 / 1 / 3 💬	25 drugs   [ 12 drugs ]	9 genes   33 pathways	(1) 27,968 patients (2) 20,387 patients Age distribution💬	Biobank Animal model Pediatric diseases
58	Hypertrophic cardiomyopathy	92 trials   35 / 42 / 31 / 14 💬	126 drugs   [ 35 drugs ]	40 genes   141 pathways	(1) 4,667 patients (2) 4,481 patients Age distribution💬	Biobank Pediatric diseases
59	Restricted cardiomyopathy "Restrictive cardiomyopathy", "Constrictive cardiomyopathy"	-	-	-	(1) 50 patients (2) 64 patients Age distribution💬	Pediatric diseases
60	Aplastic anemia	218 trials   62 / 136 / 27 / 16 💬	362 drugs   [ 81 drugs ]	39 genes   155 pathways	(1) 10,287 patients (2) 8,724 patients Age distribution💬	Pediatric diseases
61	Autoimmune hemolytic anemia "AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "MAIHA", "Evans syndrome"	90 trials   31 / 42 / 43 / 6 💬	72 drugs   [ 23 drugs ]	19 genes   147 pathways	(1) About 2,600 patients (2) 1,275 patients Age distribution💬	Pediatric diseases
62	Paroxysmal nocturnal hemoglobinuria "PNH"	202 trials   154 / 85 / 117 / 33 💬	120 drugs   [ 25 drugs ]	15 genes   90 pathways	(1) About 400 patients (2) 927 patients Age distribution💬	Pediatric diseases
63	Idiopathic thrombocytopenic purpura "Primary immune thrombocytopenia"	311 trials   164 / 70 / 130 / 54 💬	185 drugs   [ 39 drugs ]	43 genes   132 pathways	(1) 24,956 patients (2) 18,793 patients Age distribution💬	Pediatric diseases
64	Thrombotic thrombocytopenic purpura "TTP", "Upshaw-Schulman syndrome", "USS"	74 trials   29 / 26 / 39 / 7 💬	76 drugs   [ 19 drugs ]	15 genes   57 pathways	(1) Estimated occurrence: About 500 patients per year (2) 361 patients Age distribution💬	Animal model Pediatric diseases
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"	413 trials   209 / 170 / 134 / 54 💬	581 drugs   [ 97 drugs ]	68 genes   202 pathways	(1) 1,383 patients (2) 1,943 patients Age distribution💬	Animal model Pediatric diseases
66	IgA nephropathy "IgA nephritis", "Berger disease", "IgA-IgG nephropathy"	199 trials   49 / 60 / 68 / 34 💬	214 drugs   [ 57 drugs ]	32 genes   128 pathways	(1) About 33,000 patients (By the research group) (2) 12,699 patients Age distribution💬	Biobank Animal model Pediatric diseases
67	Polycystic kidney disease "PKD", "PCKD", "Polycystic kidney", "ADPKD", "ARPKD"	186 trials   113 / 73 / 86 / 30 💬	196 drugs   [ 47 drugs ]	35 genes   146 pathways	(1) About 31,000 patients (By the research group) (2) 11,935 patients Age distribution💬	Animal model Pediatric diseases
68	Ossification of the ligamentum flavum "Ossification of ligamentum flavum", "OLF"	2 trials   0 / 0 / 0 / 0 💬	4 drugs   [ 4 drugs ]	1 gene   3 pathways	(1) 2,360 patients (2) 6,715 patients Age distribution💬
69	Ossification of posterior longitudinal ligament	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	(1) 33,346 patients (2) 36,401 patients Age distribution💬
70	Spinal stenosis "Extensive spinal canal stenosis"	91 trials   12 / 13 / 8 / 25 💬	195 drugs   [ 54 drugs ]	60 genes   85 pathways	(1) 5,944 patients (2) 5,845 patients Age distribution💬
71	Idiopathic osteonecrosis of the femoral head "Idiopathic femoral head necrosis"	3 trials   0 / 1 / 0 / 0 💬	5 drugs   [ 4 drugs ]	4 genes   10 pathways	(1) 15,388 patients (2) 20,003 patients Age distribution💬
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"	36 trials   2 / 5 / 12 / 1 💬	22 drugs   [ 5 drugs ]	2 genes   4 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 3,641 patients Age distribution💬	Pediatric diseases
73	TSH-secreting pituitary adenoma "Pituitary TSH secretion hyperthyroidism"	1 trial   0 / 0 / 1 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) [Disease ID 72-78 total] 17,069 patients (2) 175 patients Age distribution💬	Pediatric diseases
74	Prolactin secreting pituitary adenoma "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma"	18 trials   3 / 6 / 1 / 1 💬	33 drugs   [ 10 drugs ]	16 genes   63 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 2,260 patients Age distribution💬	Pediatric diseases
75	Cushing disease "Cushing"	191 trials   165 / 81 / 84 / 47 💬	172 drugs   [ 48 drugs ]	61 genes   121 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 926 patients Age distribution💬	Pediatric diseases
76	Pituitary gonadotropin secretion hyperthyroidism "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma"	25 trials   0 / 0 / 8 / 8 💬	41 drugs   [ 11 drugs ]	3 genes   10 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 39 patients Age distribution💬	Pediatric diseases
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	(1) [Disease ID 72-78 total] 17,069 patients (2) 4,613 patients Age distribution💬	Pediatric diseases
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", "GHD", "CGHD", "AGHD", "Prolactin deficiency", "PRL deficiency"	462 trials   179 / 102 / 139 / 68 💬	346 drugs   [ 45 drugs ]	41 genes   80 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 18,653 patients Age distribution💬	Pediatric diseases
79	Homozygous familial hypercholesterolemia	128 trials   74 / 43 / 81 / 15 💬	105 drugs   [ 29 drugs ]	8 genes   15 pathways	(1) 140 patients (2) 352 patients Age distribution💬	Pediatric diseases
80	Resistance to thyroid hormone "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome"	-	-	-	(1) About 3,000 patients (By the research group) (2) 43 patients Age distribution💬	Pediatric diseases
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", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency"	65 trials   34 / 35 / 22 / 7 💬	77 drugs   [ 20 drugs ]	11 genes   65 pathways	(1) About 1,800 patients (2) 864 patients Age distribution💬	Pediatric diseases
82	Congenital adrenal hypoplasia "DAX-1 deficiency", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome"	-	-	-	(1) About 1,000 patients (2) 49 patients Age distribution💬	Pediatric diseases
83	Addison disease "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome"	20 trials   6 / 4 / 3 / 5 💬	42 drugs   [ 13 drugs ]	6 genes   17 pathways	(1) About 1,000 patients (By the research group) (2) 329 patients Age distribution💬	Pediatric diseases
84	Sarcoidosis	143 trials   56 / 60 / 28 / 28 💬	221 drugs   [ 79 drugs ]	82 genes   165 pathways	(1) 26,763 patients (2) 16,138 patients Age distribution💬
85	Idiopathic interstitial pneumonia "IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP"	514 trials   228 / 208 / 116 / 64 💬	377 drugs   [ 108 drugs ]	97 genes   204 pathways	(1) More than about 15,000 patients (Medical care eligibility certificate holders in fiscal year 2,014: 8,846 patients) (2) 17,589 patients Age distribution💬	Biobank Pediatric diseases
86	Pulmonary arterial hypertension "PAH", "IPAH", "HPAH", "Eisenmenger syndrome"	1,083 trials   514 / 272 / 389 / 187 💬	667 drugs   [ 122 drugs ]	98 genes   185 pathways	(1) 2,299 patients (2) 4,230 patients Age distribution💬	Pediatric diseases
87	Pulmonary veno-occlusive disease "Pulmonary capillary hemangiomatosis", "PVOD", "PCH"	3 trials   1 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	4 genes   43 pathways	(1) About 100 patients (2) 25 patients Age distribution💬
88	Chronic thromboembolic pulmonary hypertension "CTEPH", "Idiopathic chronic pulmonary thromboembolism"	145 trials   102 / 53 / 63 / 21 💬	112 drugs   [ 22 drugs ]	13 genes   52 pathways	(1) 1,810 patients (2) 4,608 patients Age distribution💬	Biobank Animal model
89	Lymphangioleiomyomatosis "LAM"	38 trials   14 / 17 / 8 / 2 💬	42 drugs   [ 19 drugs ]	26 genes   134 pathways	(1) 689 patients (2) 885 patients Age distribution💬	Pediatric diseases
90	Retinitis pigmentosa "Rod dystrophy", "Rod-Cone Dystrophy"	103 trials   91 / 56 / 22 / 10 💬	158 drugs   [ 42 drugs ]	52 genes   107 pathways	(1) 27,158 patients (2) 23,979 patients Age distribution💬	Biobank
91	Budd-Chiari syndrome	3 trials   0 / 0 / 0 / 1 💬	4 drugs   [ 3 drugs ]	2 genes   8 pathways	(1) 293 patients (2) 225 patients Age distribution💬	Pediatric diseases
92	Idiopathic portal hypertension "Banti syndrome"	-	-	-	(1) About 1,000 patients (2) 312 patients Age distribution💬	Pediatric diseases
93	Primary biliary cholangitis "Primary biliary cirrhosis", "PBC"	230 trials   190 / 110 / 75 / 60 💬	215 drugs   [ 51 drugs ]	34 genes   107 pathways	(1) 19,701 patients (2) 17,993 patients Age distribution💬
94	Primary sclerosing cholangitis "PSC"	134 trials   68 / 57 / 46 / 10 💬	105 drugs   [ 37 drugs ]	18 genes   131 pathways	(1) About 400 patients (2) 1,010 patients Age distribution💬	Pediatric diseases
95	Autoimmune hepatitis	44 trials   11 / 19 / 11 / 8 💬	57 drugs   [ 26 drugs ]	18 genes   108 pathways	(1) About 10,000 patients (2) 6,962 patients Age distribution💬	Pediatric diseases
96	Crohn disease "Terminal ileitis"	2,209 trials   1302 / 711 / 873 / 391 💬	1,276 drugs   [ 240 drugs ]	166 genes   210 pathways	(1) 36,418 patients (2) 47,633 patients Age distribution💬	Pediatric diseases
97	Ulcerative colitis	2,269 trials   1401 / 847 / 954 / 366 💬	1,331 drugs   [ 241 drugs ]	114 genes   181 pathways	(1) 143,733 patients (2) 140,574 patients Age distribution💬	Pediatric diseases
98	Eosinophilic gastrointestinal disease "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "N-FPIES"	128 trials   60 / 56 / 56 / 16 💬	147 drugs   [ 40 drugs ]	34 genes   132 pathways	(1) About 5,000 patients (By the research group) (2) 1,144 patients Age distribution💬	Pediatric diseases
99	Chronic intestinal pseudo-obstruction "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP"	3 trials   0 / 3 / 0 / 0 💬	6 drugs   [ 1 drug ]	-	(1) Child case: 100 patients, Adult case: 1,300 patients (2) 165 patients Age distribution💬	Pediatric diseases
100	Megacystis microcolon intestinal hypoperistalsis syndrome "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"	-	-	-	(1) Less than 100 patients (By the research group) (2) 1 patient Age distribution💬	Pediatric diseases
101	Congenital isolated hypoganglionosis "Intestinal ganglion cells insignificant disease"	-	-	-	(1) About 100 patients (By the research group) (2) 12 patients Age distribution💬	Pediatric diseases
102	Rubinstein-Taybi syndrome "RSTS"	3 trials   0 / 2 / 0 / 0 💬	8 drugs   [ 1 drug ]	7 genes   17 pathways	(1) About 200 patients (By the research group) (2) 9 patients Age distribution💬	Biobank Pediatric diseases
103	Cardio-facio-cutaneous syndrome "CFC syndrome"	-	-	-	(1) About 200 patients (By the research group) (2) 6 patients Age distribution💬	Pediatric diseases
104	Costello syndrome	-	-	-	(1) About 100 patients (By the research group) (2) 8 patients Age distribution💬	Pediatric diseases
105	CHARGE syndrome	-	-	-	(1) About 5,000 patients (By the research group) (2) 17 patients Age distribution💬	Pediatric diseases
106	Cryopyrin-associated periodic syndrome "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID"	39 trials   28 / 11 / 13 / 5 💬	23 drugs   [ 4 drugs ]	4 genes   46 pathways	(1) About 100 patients (By the research group) (2) 74 patients Age distribution💬	Pediatric diseases
107	Juvenile idiopathic arthritis [Systemic juvenile idiopathic arthritis (~Mar 2018)] "Systemic-onset juvenile idiopathic arthritis", "JIA", "SJIA"	151 trials   80 / 34 / 50 / 28 💬	75 drugs   [ 13 drugs ]	16 genes   90 pathways	(1) About 8,000 patients (2) 743 patients Age distribution💬	Pediatric diseases
108	TNF receptor-associated periodic syndrome	4 trials   5 / 1 / 2 / 1 💬	7 drugs   [ 1 drug ]	1 gene   42 pathways	(1) Less than 100 patients (By the research group) (2) 30 patients Age distribution💬	Pediatric diseases
109	Atypical hemolytic uremic syndrome "aHUS"	95 trials   85 / 36 / 36 / 20 💬	27 drugs   [ 5 drugs ]	2 genes   9 pathways	(1) Less than 200 patients (By the research group) (2) 90 patients Age distribution💬	Pediatric diseases
110	Blau syndrome "Early-onset sarcoidosis", "Systemic granulomatous diseases"	-	-	-	(1) Less than 100 patients (By the research group) (2) 20 patients Age distribution💬	Pediatric diseases
111	Congenital myopathy "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Myotubular myopathy", "Centronuclear myopathy", "Congenital fiber-type disproportion myopathy"	7 trials   9 / 6 / 1 / 2 💬	13 drugs   [ 4 drugs ]	1 gene   8 pathways	(1) About 1,000 patients (2) 316 patients Age distribution💬	Biobank Pediatric diseases
112	Marinesco-Sjogren syndrome "Hereditary cerebellar ataxia-childhood cataracts"	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬	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"	567 trials   431 / 251 / 233 / 72 💬	442 drugs   [ 93 drugs ]	55 genes   151 pathways	(1) About 25,400 patients (2) 5,056 patients Age distribution💬	Biobank Animal model Pediatric diseases
114	Non-dystrophic myotonia syndrome "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Becker disease", "Paramyotonia congenita", "Sodium channel myotonia"	10 trials   1 / 3 / 3 / 0 💬	14 drugs   [ 5 drugs ]	18 genes   10 pathways	(1) About 1,000 patients (2) 20 patients Age distribution💬
115	Hereditary periodic paralysis "Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis"	1 trial   1 / 0 / 0 / 0 💬	2 drugs   [ 2 drugs ]	13 genes   7 pathways	(1) About 1,000 patients (2) 59 patients Age distribution💬
116	Atopic myelitis "Idiopathic eosinophilic myelitis"	-	-	-	(1) About 1,000 patients (2) 40 patients Age distribution💬
117	Syringomyelia	2 trials   0 / 2 / 0 / 0 💬	4 drugs   [ - ]	-	(1) About 3,000 patients (2) 626 patients Age distribution💬	Pediatric diseases
118	Myelomeningocele "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"	9 trials   1 / 1 / 0 / 1 💬	15 drugs   [ 7 drugs ]	8 genes   11 pathways	(1) 5.0~6.0 cases occur per 10,000 born (500~600 child patients are born per year) (2) 87 patients Age distribution💬	Pediatric diseases
119	Isaacs syndrome "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"	-	-	-	(1) About 100 patients (2) 108 patients Age distribution💬	Pediatric diseases
120	Hereditary dystonia "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b 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", "SS", "DRD", "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"	25 trials   11 / 3 / 17 / 3 💬	22 drugs   [ 4 drugs ]	2 genes   2 pathways	(1) About 500 patients (2) 103 patients Age distribution💬	Pediatric diseases
121	Neuroferritinopathy	-	-	-	(1) Less than 100 patients (2) 2 patients Age distribution💬
122	Superficial siderosis "Brain table hemosiderosis"	3 trials   0 / 0 / 0 / 0 💬	7 drugs   [ 2 drugs ]	-	(1) Less than 100 patients (2) 202 patients Age distribution💬
123	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy "CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy"	-	-	-	(1) Less than 100 patients (2) 7 patients Age distribution💬
124	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease"	11 trials   10 / 7 / 2 / 2 💬	13 drugs   [ 4 drugs ]	3 genes   11 pathways	(1) About 200 patients (2) 156 patients Age distribution💬
125	Hereditary diffuse leukoencephalopathy with spheroid "HDLS", "Hereditary diffuse leukoencephalopathy"	1 trial   0 / 1 / 0 / 0 💬	9 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 65 patients Age distribution💬
126	Perry syndrome	-	-	-	(1) Less than 100 patients (2) 4 patients Age distribution💬
127	Frontotemporal lobar degeneration "Frontotemporal dementia", "Semantic dementia"	74 trials   24 / 26 / 27 / 8 💬	83 drugs   [ 28 drugs ]	29 genes   99 pathways	(1) About 12,000 patients (2) 1,287 patients Age distribution💬
128	Bickerstaff brainstem encephalitis	-	-	-	(1) Occurrence: About 100 patients per year (2) 103 patients Age distribution💬
129	Acute encephalopathy with biphasic seizures and late reduced diffusion "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy"	1 trial   0 / 1 / 0 / 0 💬	1 drug   [ 1 drug ]	-	(1) About 2,000~7,800 patients (Morbidity rate: 100~200 patients per year) (2) 48 patients Age distribution💬	Pediatric diseases
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) About 200~300 patients (2) 39 patients Age distribution💬	Pediatric diseases
131	Alexander disease	1 trial   1 / 1 / 1 / 0 💬	3 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 43 patients Age distribution💬	Pediatric diseases
132	Congenital supranuclear bulbar palsy "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"	-	-	-	(1) About 100 patients (2) 8 patients Age distribution💬
133	Moebius syndrome "Mobius syndrome", "Möbius syndrome"	-	-	-	(1) About 1,000 patients (2) 11 patients Age distribution💬	Pediatric diseases
134	Septo-optic dysplasia "De Morsier syndrome"	1 trial   0 / 0 / 0 / 1 💬	1 drug   [ - ]	-	(1) About 500 patients (2) 11 patients Age distribution💬	Pediatric diseases
135	Aicardi syndrome	1 trial   0 / 1 / 0 / 0 💬	9 drugs   [ 3 drugs ]	-	(1) Less than 100 patients (2) 14 patients Age distribution💬	Pediatric diseases
136	Hemimegalencephaly "Unilateral megalencephaly"	-	-	-	(1) Less than 100 patients (2) 23 patients Age distribution💬
137	Focal cortical dysplasia "FCD"	8 trials   0 / 6 / 0 / 0 💬	4 drugs   [ 2 drugs ]	1 gene   50 pathways	(1) A few thousand patients (2) 70 patients Age distribution💬
138	Nerve cell migration disorder "Lissencephaly", "Neuronal migration defect", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome"	-	-	-	(1) About 1,000 patients (2) 47 patients Age distribution💬	Pediatric diseases
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"	10 trials   1 / 7 / 0 / 0 💬	7 drugs   [ 2 drugs ]	2 genes   2 pathways	(1) About 200 patients (2) 32 patients Age distribution💬	Pediatric diseases
140	Dorabe syndrome "Dravet syndrome"	83 trials   59 / 21 / 57 / 13 💬	54 drugs   [ 13 drugs ]	48 genes   62 pathways	(1) About 3,000 patients (2) 55 patients Age distribution💬	Pediatric diseases
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"	-	-	-	(1) About 5,000 patients (2) 67 patients Age distribution💬
142	Myoclonic absence epilepsy	-	-	-	(1) Less than 100 patients (2) 3 patients Age distribution💬
143	Epilepsy with myoclonic-atonic seizure "Epilepsy with myoclonic cataplexy"	-	-	-	(1) Less than 100 patients (2) 21 patients Age distribution💬
144	Lennox-Gastaut syndrome	80 trials   54 / 17 / 54 / 12 💬	63 drugs   [ 11 drugs ]	49 genes   59 pathways	(1) [Disease ID 144-148 total] About 4,300 patients (2) 241 patients Age distribution💬	Pediatric diseases
145	West syndrome "Infantile spasm"	39 trials   15 / 15 / 15 / 9 💬	50 drugs   [ 13 drugs ]	27 genes   24 pathways	(1) [Disease ID 144-148 total] About 4,300 patients (2) 168 patients Age distribution💬	Pediatric diseases
146	Ohtahara syndrome "Early infantile epileptic encephalopathy with suppression burst"	-	-	-	(1) [Disease ID 144-148 total] About 4,300 patients (2) 20 patients Age distribution💬
147	Early myoclonic encephalopathy	-	-	-	(1) [Disease ID 144-148 total] About 4,300 patients (2) 11 patients Age distribution💬
148	Epilepsy of infancy with migrating focal seizure "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy"	-	-	-	(1) [Disease ID 144-148 total] About 4,300 patients (2) 21 patients Age distribution💬
149	Hemiconvulsion hemiplegia epilepsy syndrome "One side convulsions", "Hemiplegia", "Epilepsy syndrome"	22 trials   3 / 4 / 7 / 1 💬	33 drugs   [ 12 drugs ]	13 genes   17 pathways	(1) Less than 100 patients (2) 24 patients Age distribution💬
150	Ring chromosome 20 epilepsy syndrome "Ring chromosome 20 syndrome"	-	-	-	(1) Less than 100 patients (2) 13 patients Age distribution💬	Pediatric diseases
151	Rasmussen encephalitis	2 trials   0 / 1 / 1 / 0 💬	4 drugs   [ 2 drugs ]	6 genes   84 pathways	(1) Less than 100 patients (2) 37 patients Age distribution💬	Pediatric diseases
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"	9 trials   5 / 5 / 4 / 1 💬	7 drugs   [ 1 drug ]	16 genes   7 pathways	(1) Less than 100 patients (2) 12 patients Age distribution💬
153	Acute encephalitis with refractory, repetitive partial seizure 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"	-	-	-	(1) About 100 patients (2) 41 patients Age distribution💬	Pediatric diseases
154	Epilepsy with continuous spikes and waves during slow sleep "Epileptic encephalopathy with continuous spike-and-wave during sleep"	1 trial   0 / 1 / 0 / 0 💬	1 drug   [ - ]	-	(1) [Disease ID 154-155 total] About 400 patients (2) 32 patients Age distribution💬
155	Acquired aphasia with convulsive disorder "Landau-Kleffner syndrome"	1 trial   0 / 1 / 1 / 0 💬	2 drugs   [ 2 drugs ]	29 genes   14 pathways	(1) [Disease ID 154-155 total] About 400 patients (2) 7 patients Age distribution💬
156	Rett syndrome	36 trials   8 / 23 / 11 / 1 💬	49 drugs   [ 19 drugs ]	77 genes   112 pathways	(1) About 1,000 patients (2) 80 patients Age distribution💬	Animal model Pediatric diseases
157	Sturge-Weber syndrome "Síndrome de Sturge-Weber"	8 trials   3 / 5 / 1 / 0 💬	11 drugs   [ 4 drugs ]	5 genes   62 pathways	(1) About 1,000 patients (2) 79 patients Age distribution💬	Pediatric diseases
158	Tuberous sclerosis "Tuberous sclerosis complex"	100 trials   59 / 38 / 49 / 16 💬	62 drugs   [ 16 drugs ]	35 genes   115 pathways	(1) About 4,000~12,000 patients (2) 880 patients Age distribution💬	Biobank Pediatric diseases
159	Xeroderma pigmentosum "XP"	5 trials   1 / 1 / 1 / 0 💬	13 drugs   [ 4 drugs ]	4 genes   13 pathways	(1) About 300~600 patients (2) 80 patients Age distribution💬	Biobank Pediatric diseases
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", "CHHS"	32 trials   18 / 15 / 9 / 4 💬	62 drugs   [ 18 drugs ]	15 genes   107 pathways	(1) About 200 patients (2) 80 patients Age distribution💬	Biobank Pediatric diseases
161	Familial benign chronic pemphigus "Benign familial pemphigus", "Hailey-Hailey disease"	4 trials   2 / 2 / 0 / 0 💬	8 drugs   [ 3 drugs ]	1 gene   22 pathways	(1) About 300 patients (2) 60 patients Age distribution💬
162	Pemphigoid "Epidermolysis bullosa acquisita"	70 trials   24 / 33 / 14 / 7 💬	117 drugs   [ 46 drugs ]	30 genes   128 pathways	(1) About 7,100 patients (Pemphigoid: About 6,850 patients、Epidermolysis bullosa acquisita: About 250 patients) (2) 3,965 patients Age distribution💬
163	Idiopathic pure sudomotor failure "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure"	-	-	-	(1) About 100 patients~200 patients (2) 433 patients Age distribution💬
164	Oculocutaneous albinism "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Griscelli syndrome"	15 trials   3 / 9 / 1 / 0 💬	57 drugs   [ 34 drugs ]	34 genes   136 pathways	(1) About 5,000 patients (2,800~11,200 patients) (2) 23 patients Age distribution💬	Pediatric diseases
165	Pachydermoperiostosis	-	-	-	(1) Less than 100 patients (2) 17 patients Age distribution💬	Pediatric diseases
166	Pseudoxanthoma elasticum "PXE"	11 trials   1 / 8 / 2 / 1 💬	23 drugs   [ 6 drugs ]	5 genes   26 pathways	(1) About 300 patients (2) 101 patients Age distribution💬
167	Marfan syndrome	19 trials   15 / 6 / 12 / 4 💬	38 drugs   [ 10 drugs ]	10 genes   49 pathways	(1) About 15,000~20,000 patients (2) 1,003 patients Age distribution💬	Biobank Pediatric diseases
168	Ehlers-Danlos syndrome "EDS", "cEDS", "hEDS", "clEDS", "vEDS", "kEDS", "aEDS", "dEDS", "DDEDS"	7 trials   0 / 1 / 2 / 1 💬	16 drugs   [ 8 drugs ]	9 genes   54 pathways	(1) About 20,000 patients (2) 165 patients Age distribution💬	Biobank Animal model Pediatric diseases
169	Menkes disease	6 trials   1 / 1 / 1 / 0 💬	6 drugs   [ 3 drugs ]	-	(1) Less than 100 patients (2) 1 patient Age distribution💬	Biobank Pediatric diseases
170	Occipital horn syndrome	1 trial   0 / 0 / 1 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) Less than 100 patients (2) 1 patient Age distribution💬	Pediatric diseases
171	Wilson disease	50 trials   34 / 15 / 26 / 10 💬	59 drugs   [ 17 drugs ]	3 genes   28 pathways	(1) About 3,000 patients (2) 695 patients Age distribution💬	Biobank Pediatric diseases
172	Hypophosphatasia	32 trials   12 / 20 / 4 / 5 💬	18 drugs   [ 4 drugs ]	3 genes   6 pathways	(1) About 100~200 patients (2) 20 patients Age distribution💬	Pediatric diseases
173	VATER syndrome "VATER association", "VACTERL association"	-	-	-	(1) About 500 patients (2) 18 patients Age distribution💬	Pediatric diseases
174	Nasu-Hakola disease "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"	-	-	-	(1) About 200 patients (2) 4 patients Age distribution💬
175	Weaver syndrome	-	-	-	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
176	Coffin-Lowry syndrome	-	-	-	(1) One patient per tens of thousand population (2) 4 patients Age distribution💬	Pediatric diseases
177	Joubert syndrome related disorder [Arima syndrome (~Mar 2018)] "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome"	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	(1) Less than 100 patients (2) 6 patients Age distribution💬	Pediatric diseases
178	Mowat-Wilson syndrome	-	-	-	(1) About 1,000 patients (2) 14 patients Age distribution💬	Pediatric diseases
179	Williams syndrome	4 trials   0 / 0 / 0 / 1 💬	13 drugs   [ 7 drugs ]	8 genes   32 pathways	(1) Occurrence: One patient per twenty thousand population (2) 46 patients Age distribution💬	Pediatric diseases
180	ATR-X syndrome "Alpha-thalassemia mental retardation syndrome"	-	-	-	(1) Less than 100 patients (2) 8 patients Age distribution💬	Pediatric diseases
181	Crouzon syndrome	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 17 patients Age distribution💬	Pediatric diseases
182	Apert syndrome	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 8 patients Age distribution💬	Pediatric diseases
183	Pfeiffer syndrome	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 6 patients Age distribution💬	Pediatric diseases
184	Antley-Bixler syndrome	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 2 patients Age distribution💬	Pediatric diseases
185	Coffin-Siris syndrome	-	-	-	(1) Less than 100 patients (2) 4 patients Age distribution💬	Pediatric diseases
186	Rothmund-Thomson syndrome "RAPADILINO syndrome", "Baller-Gerold syndrome"	1 trial   0 / 0 / 0 / 0 💬	2 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 2 patients Age distribution💬
187	Kabuki syndrome	2 trials   0 / 0 / 0 / 0 💬	7 drugs   [ 2 drugs ]	3 genes   15 pathways	(1) About 3,000~4,000 patients (2) 11 patients Age distribution💬	Pediatric diseases
188	Polysplenia syndrome	-	-	-	(1) [Disease ID 188-189 total] About 2,000 patients (2) 45 patients Age distribution💬	Pediatric diseases
189	Asplenia syndrome	-	-	-	(1) [Disease ID 188-189 total] About 2,000 patients (2) 75 patients Age distribution💬	Pediatric diseases
190	Branchio-oto-renal syndrome "BOR syndrome"	-	-	-	(1) About 300 patients (2) 6 patients Age distribution💬
191	Werner syndrome	3 trials   2 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	1 gene   5 pathways	(1) About 2,000 patients (2) 114 patients Age distribution💬	Biobank Pediatric diseases
192	Cockayne syndrome "CS"	4 trials   1 / 3 / 0 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   50 pathways	(1) Less than 100 patients (2) 7 patients Age distribution💬	Biobank Pediatric diseases
193	Prader-Willi syndrome	95 trials   31 / 36 / 40 / 13 💬	104 drugs   [ 27 drugs ]	50 genes   63 pathways	(1) About 1,000 patients (2) 167 patients Age distribution💬	Pediatric diseases
194	Sotos syndrome	-	-	-	(1) About 2,500 patients (2) 14 patients Age distribution💬	Pediatric diseases
195	Noonan syndrome	14 trials   0 / 3 / 6 / 0 💬	15 drugs   [ 5 drugs ]	2 genes   9 pathways	(1) About 600 patients (2) 39 patients Age distribution💬	Pediatric diseases
196	Young-Simpson syndrome	-	-	-	(1) About 100 patients (2) - Age distribution💬	Pediatric diseases
197	1p36 deletion syndrome	-	-	-	(1) About 100 patients (2) 8 patients Age distribution💬	Pediatric diseases
198	4p deletion syndrome "4p-syndrome"	-	-	-	(1) Less than about 1,000 patients (2) 5 patients Age distribution💬	Pediatric diseases
199	5p deletion syndrome "5p-syndrome"	-	-	-	(1) Less than about 1,000 patients (One per fifty thousand born, probably less than 1,000 patients estimated) (2) 1 patient Age distribution💬	Pediatric diseases
200	Paternal uniparental disomy of chromosome 14 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"	-	-	-	(1) Less than 100 patients (2) 6 patients Age distribution💬	Pediatric diseases
201	Angelman syndrome	19 trials   6 / 5 / 5 / 0 💬	30 drugs   [ 7 drugs ]	22 genes   20 pathways	(1) 500~1,000 patients (2) 27 patients Age distribution💬	Pediatric diseases
202	Smith-Magenis syndrome	10 trials   12 / 6 / 4 / 2 💬	10 drugs   [ 4 drugs ]	4 genes   6 pathways	(1) Less than 100 patients (2) 1 patient Age distribution💬	Pediatric diseases
203	22q11.2 deletion syndrome	3 trials   1 / 0 / 0 / 0 💬	3 drugs   [ - ]	-	(1) About 4,500 patients (2) 71 patients Age distribution💬	Pediatric diseases
204	Emanuel syndrome "Derivative 22 syndrome"	-	-	-	(1) Less than 100 patients (2) 3 patients Age distribution💬	Pediatric diseases
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   25 pathways	(1) [Disease ID 205-206 total] Less than 100 patients (2) 5 patients Age distribution💬
206	Fragile X syndrome	98 trials   31 / 46 / 14 / 7 💬	73 drugs   [ 27 drugs ]	46 genes   57 pathways	(1) [Disease ID 205-206 total] Less than 100 patients (2) 3 patients Age distribution💬	Pediatric diseases
207	Persistent truncus arteriosus	-	-	-	(1) About 500 patients (2) 29 patients Age distribution💬	Pediatric diseases
208	Corrected transposition of great arteries	-	-	-	(1) [Disease ID 208-209 total] About 900 patients (2) 172 patients Age distribution💬	Pediatric diseases
209	Complete transposition of great vessel "Complete transposition of great arteries", "Complete TGA"	-	-	-	(1) [Disease ID 208-209 total] About 900 patients (2) 211 patients Age distribution💬	Pediatric diseases
210	Single Ventricle "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome"	47 trials   41 / 17 / 22 / 10 💬	54 drugs   [ 23 drugs ]	32 genes   66 pathways	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 349 patients Age distribution💬	Pediatric diseases
211	Hypoplastic left heart syndrome "HLHS"	20 trials   11 / 9 / 0 / 0 💬	28 drugs   [ 9 drugs ]	5 genes   13 pathways	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 37 patients Age distribution💬	Pediatric diseases
212	Tricuspid atresia "TA"	6 trials   2 / 2 / 0 / 0 💬	8 drugs   [ 7 drugs ]	8 genes   12 pathways	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 161 patients Age distribution💬	Pediatric diseases
213	Pulmonary atresia without ventricular septum defect "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"	-	-	-	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 105 patients Age distribution💬	Pediatric diseases
214	Pulmonary atresia with ventricular septum defect "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "TFPA"	2 trials   0 / 0 / 0 / 0 💬	4 drugs   [ 4 drugs ]	-	(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases) (2) 95 patients Age distribution💬	Pediatric diseases
215	Tetralogy of Fallot "Fallot tetralogy"	19 trials   2 / 3 / 1 / 1 💬	35 drugs   [ 16 drugs ]	16 genes   47 pathways	(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases) (2) 597 patients Age distribution💬	Pediatric diseases
216	Double outlet right ventricle	-	-	-	(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases) (2) 203 patients Age distribution💬	Pediatric diseases
217	Ebstein disease "Ebstein malformation"	-	-	-	(1) About 300 patients (2) 115 patients Age distribution💬	Pediatric diseases
218	Alport syndrome	16 trials   16 / 8 / 8 / 3 💬	24 drugs   [ 11 drugs ]	5 genes   27 pathways	(1) About 1,200 patients (2) 195 patients Age distribution💬	Animal model Pediatric diseases
219	Galloway-Mowat syndrome	-	-	-	(1) About 200 patients (2) - Age distribution💬	Pediatric diseases
220	Rapidly progressive glomerulonephritis	2 trials   0 / 1 / 2 / 0 💬	5 drugs   [ 2 drugs ]	1 gene   1 pathway	(1) About 3,800~5,800 patients in total estimated (2) 1,084 patients Age distribution💬	Animal model Pediatric diseases
221	Anti-glomerular basement membrane disease	1 trial   0 / 1 / 0 / 0 💬	3 drugs   [ 1 drug ]	-	(1) About 200~400 patients (2) 319 patients Age distribution💬	Pediatric diseases
222	Primary nephrotic syndrome "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN"	234 trials   103 / 100 / 49 / 38 💬	241 drugs   [ 78 drugs ]	59 genes   185 pathways	(1) About 16,000 patients (2) 12,018 patients Age distribution💬	Pediatric diseases
223	Primary membranoproliferative glomerulonephritis "Dense deposit disease"	18 trials   19 / 14 / 3 / 3 💬	14 drugs   [ 7 drugs ]	7 genes   14 pathways	(1) About 1,000 patients (2) 333 patients Age distribution💬	Pediatric diseases
224	Purpura nephritis	10 trials   2 / 3 / 0 / 1 💬	41 drugs   [ 19 drugs ]	15 genes   56 pathways	(1) 400~640 cases / year (2) 1,045 patients Age distribution💬	Pediatric diseases
225	Congenital nephrogenic diabetes insipidus "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"	12 trials   7 / 4 / 1 / 1 💬	45 drugs   [ 17 drugs ]	30 genes   63 pathways	(1) About 200 patients (2) 48 patients Age distribution💬	Pediatric diseases
226	Interstitial cystitis with Hunners ulcer "Interstitial cystitis"	133 trials   46 / 49 / 25 / 16 💬	151 drugs   [ 46 drugs ]	48 genes   137 pathways	(1) About 2,000 patients (2) 863 patients Age distribution💬
227	Osler disease "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"	49 trials   21 / 30 / 11 / 4 💬	69 drugs   [ 21 drugs ]	23 genes   132 pathways	(1) About 10,000 patients (2) 802 patients Age distribution💬	Pediatric diseases
228	Bronchiolitis obliterans "Obliterating bronchiolitis"	92 trials   59 / 36 / 35 / 17 💬	125 drugs   [ 34 drugs ]	33 genes   152 pathways	(1) About 300~500 patients (2) 31 patients Age distribution💬	Pediatric diseases
229	Autoimmune pulmonary alveolar proteinosis "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP"	35 trials   42 / 22 / 19 / 7 💬	30 drugs   [ 8 drugs ]	3 genes   12 pathways	(1) About 900 patients (Autoimmune and congenital pulmonary alveolar proteinoses) (2) 204 patients Age distribution💬	Pediatric diseases
230	Alveolar hypoventilation syndrome "AHS", "Hypoventilation syndrome", "OHS", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH"	8 trials   0 / 2 / 2 / 0 💬	11 drugs   [ 5 drugs ]	18 genes   27 pathways	(1) About 3,000 patients (2) 122 patients Age distribution💬	Pediatric diseases
231	Alpha-1-antitrypsin deficiency "AATD"	83 trials   63 / 56 / 31 / 12 💬	89 drugs   [ 16 drugs ]	35 genes   46 pathways	(1) Less than 100 patients (2) 14 patients Age distribution💬	Pediatric diseases
232	Carney complex	1 trial   0 / 1 / 0 / 0 💬	3 drugs   [ 1 drug ]	1 gene   29 pathways	(1) Less than 100 patients (2) 21 patients Age distribution💬
233	Wolfram syndrome "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome"	6 trials   6 / 5 / 2 / 1 💬	12 drugs   [ 7 drugs ]	11 genes   40 pathways	(1) About 200 patients (2) 9 patients Age distribution💬	Pediatric diseases
234	Peroxisomal disease (except Adrenoleukodystrophy) "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "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", "PH1", "Acatalasemia", "Acatalasia", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS"	38 trials   30 / 20 / 18 / 5 💬	37 drugs   [ 12 drugs ]	12 genes   42 pathways	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
235	Hypoparathyroidism "Accessory thyroid hypergasia disease"	67 trials   28 / 18 / 23 / 15 💬	112 drugs   [ 24 drugs ]	4 genes   5 pathways	(1) About 900 patients (2) 307 patients Age distribution💬	Pediatric diseases
236	Pseudohypoparathyroidism "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"	6 trials   0 / 4 / 0 / 1 💬	4 drugs   [ 2 drugs ]	20 genes   28 pathways	(1) About 400 patients (2) 105 patients Age distribution💬	Pediatric diseases
237	ACTH unresponsiveness "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"	-	-	-	(1) Less than 100 patients (2) 10 patients Age distribution💬	Pediatric diseases
238	Vitamin D-resistant rickets "Vitamin D-resistant osteomalacia", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "VDRR", "VDRO"	1 trial   0 / 0 / 1 / 0 💬	1 drug   [ - ]	-	(1) 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 (2) 342 patients Age distribution💬	Pediatric diseases
239	Vitamin D-dependent rickets "Vitamin D-dependent osteomalacia", "VDDR", "VDDR1", "VDDR2", "VDDO"	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬	Pediatric diseases
240	Phenylketonuria "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"	125 trials   77 / 30 / 32 / 24 💬	95 drugs   [ 11 drugs ]	1 gene   5 pathways	(1) About 500 patients (2) 248 patients Age distribution💬	Pediatric diseases
241	Hypertyrosinemia type I "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency"	14 trials   4 / 1 / 1 / 1 💬	7 drugs   [ 1 drug ]	1 gene   5 pathways	(1) [Disease ID 241-243 total] Less than 100 patients (2) 2 patients Age distribution💬	Pediatric diseases
242	Hypertyrosinemia type II "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II"	-	-	-	(1) [Disease ID 241-243 total] Less than 100 patients (2) - Age distribution💬	Pediatric diseases
243	Hypertyrosinemia type III "High tyrosinemia", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III"	-	-	-	(1) [Disease ID 241-243 total] Less than 100 patients (2) 1 patient Age distribution💬	Pediatric diseases
244	Maple syrup urine disease "MSUD"	1 trial   0 / 1 / 1 / 0 💬	1 drug   [ 1 drug ]	-	(1) About 100 patients (2) 12 patients Age distribution💬	Pediatric diseases
245	Propionic acidemia	9 trials   3 / 5 / 1 / 0 💬	15 drugs   [ 3 drugs ]	1 gene   6 pathways	(1) About 300 patients (2) 12 patients Age distribution💬	Pediatric diseases
246	Methylmalonic acidemia	14 trials   8 / 9 / 2 / 1 💬	22 drugs   [ 2 drugs ]	1 gene   6 pathways	(1) About 300 patients (2) 24 patients Age distribution💬	Pediatric diseases
247	Isovaleric acidemia "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"	-	-	-	(1) Less than 100 patients (2) 3 patients Age distribution💬	Pediatric diseases
248	Glucose transporter type 1 deficiency "GLUT1 deficiency"	30 trials   43 / 20 / 9 / 8 💬	9 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 13 patients Age distribution💬	Pediatric diseases
249	Glutaric acidemia type 1	-	-	-	(1) Less than 100 patients (2) 3 patients Age distribution💬	Pediatric diseases
250	Glutaric acidemia type 2 "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD"	-	-	-	(1) Less than 100 patients (2) 6 patients Age distribution💬	Pediatric diseases
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"	42 trials   37 / 25 / 4 / 7 💬	45 drugs   [ 10 drugs ]	4 genes   29 pathways	(1) OTC deficiency: About 500 patients; CPSI deficiency: About 100 patients; Argininosuccinic aciduria: About 100 patients; Other urea cycle disorders: Less than 100 patients; (2) 84 patients Age distribution💬	Pediatric diseases
252	Lysinuric protein intolerance	-	-	-	(1) Less than 100 patients (2) 24 patients Age distribution💬	Pediatric diseases
253	Congenital folate malabsorption "Hereditary folate malabsorption", "Folate malabsorption"	-	-	-	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
254	Porphyria "CEP", "Erythropoietic protoporphyria", "EPP", "X-linked dominant protoporphyria", "XLDP", "PCT", "HEP", "AIP", "ADP", "VP", "Hereditary coproporphyria", "HCP"	59 trials   32 / 17 / 28 / 6 💬	52 drugs   [ 17 drugs ]	17 genes   33 pathways	(1) About 200 patients (2) 41 patients Age distribution💬	Pediatric diseases
255	Multiple carboxylase deficiency "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"	1 trial   1 / 1 / 0 / 0 💬	1 drug   [ - ]	-	(1) HCS deficiency: 1 / 1,000,000 occurrence in Japan; Biotinidase deficiency: a few cases reported; (2) 5 patients Age distribution💬	Pediatric diseases
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"	161 trials   98 / 59 / 58 / 31 💬	114 drugs   [ 23 drugs ]	26 genes   106 pathways	(1) About 3,000~6,000 patients estimated (2) 25 patients Age distribution💬	Pediatric diseases
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 💬	19 drugs   [ 6 drugs ]	1 gene   6 pathways	(1) About 1,200 patients (2) 92 patients Age distribution💬	Pediatric diseases
258	Galactose-1-phosphate uridylyltransferase deficiency "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"	-	-	-	(1) Less than 100 patients (2) 2 patients Age distribution💬	Pediatric diseases
259	Lecithin-cholesterol acyltransferase deficiency "LCAT deficiency", "Fish-eye disease"	1 trial   0 / 0 / 0 / 0 💬	2 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 4 patients Age distribution💬	Pediatric diseases
260	Sitosterolemia	13 trials   0 / 1 / 5 / 0 💬	13 drugs   [ 4 drugs ]	1 gene   1 pathway	(1) Less than 100 patients (2) 18 patients Age distribution💬	Pediatric diseases
261	Tangier disease	1 trial   0 / 0 / 0 / 0 💬	2 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 8 patients Age distribution💬	Pediatric diseases
262	Primary hyperchylomicronemia	-	-	-	(1) About 300 patients (2) 31 patients Age distribution💬	Pediatric diseases
263	Cerebrotendinous xanthomatosis "27-hydroxylase deficiency", "CYP27 deficiency"	5 trials   0 / 1 / 2 / 0 💬	10 drugs   [ 2 drugs ]	2 genes   4 pathways	(1) Less than 100 patients (2) 44 patients Age distribution💬	Pediatric diseases
264	Abetalipoproteinemia "Microsomal triglyceride transfer protein deficiency", "MTP deficiency"	-	-	-	(1) Less than 100 patients (Only a few pedigrees in Japan since the first report in 1,983) (2) 5 patients Age distribution💬	Pediatric diseases
265	Lipodystrophy "Berardinelli-Seip syndrome", "Lawrence syndrome", "Barraquer-Simons syndrome"	109 trials   38 / 32 / 18 / 30 💬	164 drugs   [ 59 drugs ]	26 genes   94 pathways	(1) About 100 patients (2) 31 patients Age distribution💬	Pediatric diseases
266	Familial mediterranean fever	27 trials   1 / 7 / 9 / 1 💬	23 drugs   [ 6 drugs ]	14 genes   57 pathways	(1) About 300 patients (2) 471 patients Age distribution💬	Pediatric diseases
267	Hyper-IgD syndrome "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome"	11 trials   0 / 2 / 8 / 0 💬	6 drugs   [ 1 drug ]	1 gene   42 pathways	(1) Less than 100 patients (2) 1 patient Age distribution💬	Pediatric diseases
268	Nakajo-Nishimura syndrome "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"	1 trial   0 / 1 / 1 / 0 💬	1 drug   [ 1 drug ]	2 genes   33 pathways	(1) Less than 100 patients (2) 6 patients Age distribution💬	Biobank Pediatric diseases
269	Pyogenic arthritis "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome"	20 trials   6 / 12 / 7 / 1 💬	26 drugs   [ 10 drugs ]	12 genes   90 pathways	(1) Less than 100 patients (2) 8 patients Age distribution💬	Pediatric diseases
270	Chronic recurrent multifocal osteomyelitis	-	-	-	(1) Less than 100 patients (2) 77 patients Age distribution💬	Pediatric diseases
271	Ankylosing spondylitis "Spondylarthritis ankylopoietica"	531 trials   299 / 142 / 221 / 108 💬	343 drugs   [ 66 drugs ]	41 genes   141 pathways	(1) About 4,500 patients (2) 4,219 patients Age distribution💬
272	Fibrodysplasia ossificans progressiva "FOP"	23 trials   31 / 19 / 10 / 6 💬	21 drugs   [ 4 drugs ]	10 genes   87 pathways	(1) Less than 100 patients (2) 23 patients Age distribution💬	Biobank Pediatric diseases
273	Congenital scoliosis with rib anomaly "Congenital scoliosis"	-	-	-	(1) Less than about 2,000 patients (Children under 11) (2) 24 patients Age distribution💬	Pediatric diseases
274	Osteogenesis Imperfecta	78 trials   49 / 23 / 27 / 15 💬	87 drugs   [ 19 drugs ]	14 genes   74 pathways	(1) About 6,000 patients (2) 113 patients Age distribution💬	Biobank Animal model Pediatric diseases
275	Thanatophoric dysplasia	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬
276	Achondroplasia	37 trials   31 / 27 / 13 / 6 💬	29 drugs   [ 6 drugs ]	4 genes   25 pathways	(1) 6,000 patients nationwide (estimated by frequency of occurrence) (2) 85 patients Age distribution💬	Biobank Animal model Pediatric diseases
277	Lymphangiomatosis "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis"	7 trials   2 / 2 / 2 / 0 💬	2 drugs   [ 2 drugs ]	1 gene   50 pathways	(1) About 100 patients (estimated by the national survey of the research group) (2) 44 patients Age distribution💬	Pediatric diseases
278	Huge lymphatic malformation with cervicofacial lesion "Huge lymphatic malformation", "Lymphatic malformation"	19 trials   12 / 11 / 5 / 3 💬	23 drugs   [ 7 drugs ]	5 genes   62 pathways	(1) About 600 patients (2) 14 patients Age distribution💬	Pediatric diseases
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation"	12 trials   2 / 5 / 1 / 2 💬	23 drugs   [ 9 drugs ]	3 genes   103 pathways	(1) About 200 patients (2) 48 patients Age distribution💬	Pediatric diseases
280	Huge arteriovenous malformation with cervicofacial or limb lesion "Huge arteriovenous malformation", "Arteriovenous malformation"	22 trials   14 / 6 / 2 / 4 💬	26 drugs   [ 13 drugs ]	11 genes   147 pathways	(1) About 700 patients (2) 105 patients Age distribution💬	Pediatric diseases
281	Klippel-Trenaunay-Weber syndrome "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS"	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	1 gene   50 pathways	(1) About 3,000 patients (2) 236 patients Age distribution💬	Pediatric diseases
282	Congenital dyserythropoietic anemia "CDA"	1 trial   0 / 0 / 0 / 1 💬	1 drug   [ 1 drug ]	2 genes   4 pathways	(1) Less than 100 patients (2) 9 patients Age distribution💬	Pediatric diseases
283	Acquired pure red cell aplasia "Pure red cell aplasia"	17 trials   7 / 11 / 2 / 5 💬	36 drugs   [ 19 drugs ]	16 genes   91 pathways	(1) Incidence per year: 0.3 patients per one million population (2) 818 patients Age distribution💬	Pediatric diseases
284	Diamond-Blackfan anemia	37 trials   18 / 26 / 4 / 2 💬	110 drugs   [ 34 drugs ]	22 genes   121 pathways	(1) About 200 patients (2) 23 patients Age distribution💬	Pediatric diseases
285	Fanconi anemia	56 trials   27 / 39 / 3 / 1 💬	111 drugs   [ 31 drugs ]	30 genes   151 pathways	(1) About 200 patients (2) 12 patients Age distribution💬	Biobank Pediatric diseases
286	Hereditary sideroblastic anemia "Congenital sideroblastic anemia", "Sideroblastic anemia"	6 trials   5 / 1 / 1 / 1 💬	13 drugs   [ 5 drugs ]	-	(1) Less than 100 patients (2) 12 patients Age distribution💬	Pediatric diseases
287	Epstein syndrome	-	-	-	(1) About 200 patients (2) 12 patients Age distribution💬	Pediatric diseases
288	Autoimmune acquired coagulation factor deficiency "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "von Willebrand Disease", "Factor V deficiency"	189 trials   68 / 31 / 84 / 30 💬	219 drugs   [ 29 drugs ]	18 genes   26 pathways	(1) About 700 patients (2) 423 patients Age distribution💬
289	Cronkhite-Canada syndrome	-	-	-	(1) About 500 patients (2) 189 patients Age distribution💬
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	(1) About 200 patients (2) 85 patients Age distribution💬	Pediatric diseases
291	Hirschsprung disease, entire colon type entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis"	13 trials   0 / 1 / 1 / 1 💬	32 drugs   [ 15 drugs ]	-	(1) About 10,000 patients (Among them, entire colon type and small intestine type: About 1,000 patients) (2) 12 patients Age distribution💬	Pediatric diseases
292	Cloacal exstrophy "Vesicointestinal fissure"	-	-	-	(1) About 300 patients (2) 14 patients Age distribution💬	Pediatric diseases
293	Persistent cloaca	-	-	-	(1) About 600 patients (2) 41 patients Age distribution💬	Pediatric diseases
294	Congenital diaphragmatic hernia	12 trials   6 / 2 / 5 / 2 💬	29 drugs   [ 6 drugs ]	5 genes   14 pathways	(1) About 5,000 patients (2) 8 patients Age distribution💬	Pediatric diseases
295	Infant huge hepatic hemangioma "Infant giant liver hemangioma"	-	-	-	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
296	Biliary atresia	53 trials   6 / 12 / 10 / 3 💬	56 drugs   [ 31 drugs ]	43 genes   50 pathways	(1) About 3,500 patients (2) 373 patients Age distribution💬	Pediatric diseases
297	Alagille syndrome	26 trials   12 / 17 / 2 / 2 💬	16 drugs   [ 8 drugs ]	2 genes   2 pathways	(1) About 200~300 patients (2) 39 patients Age distribution💬	Pediatric diseases
298	Hereditary pancreatitis "Chronic pancreatitis"	93 trials   19 / 26 / 17 / 7 💬	168 drugs   [ 51 drugs ]	48 genes   134 pathways	(1) About 300~400 patients (2) 25 patients Age distribution💬	Pediatric diseases
299	Cystic fibrosis	1,592 trials   783 / 493 / 523 / 227 💬	1,539 drugs   [ 255 drugs ]	81 genes   162 pathways	(1) Less than 100 patients (2) 13 patients Age distribution💬	Pediatric diseases
300	IgG4-related disease "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease"	31 trials   4 / 7 / 10 / 4 💬	33 drugs   [ 16 drugs ]	11 genes   81 pathways	(1) About 8,000 patients (2) 3,016 patients Age distribution💬	Pediatric diseases
301	Macular dystrophy "Best disease", "Stargardt disease", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy"	41 trials   25 / 25 / 7 / 2 💬	47 drugs   [ 12 drugs ]	12 genes   66 pathways	(1) 1,000 patients (2) 202 patients Age distribution💬	Animal model
302	Leber hereditary optic neuropathy	20 trials   27 / 10 / 15 / 6 💬	14 drugs   [ 4 drugs ]	5 genes   32 pathways	(1) Estimated number of new occurrences per year: 117 patients (2) 134 patients Age distribution💬
303	Usher syndrome	6 trials   9 / 6 / 1 / 1 💬	11 drugs   [ - ]	-	(1) About 8,160 patients (2) 19 patients Age distribution💬
304	Juvenile-onset bilateral sensorineural hearing loss	-	-	-	(1) About 4,000 patients (2) 35 patients Age distribution💬
305	Delayed endolymphatic hydrops	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	(1) About 4,000~5,000 patients (2) 31 patients Age distribution💬
306	Eosinophilic sinusitis	-	-	-	(1) About 20,000 patients (2) 13,404 patients Age distribution💬
307	Canavan disease	3 trials   1 / 1 / 0 / 0 💬	5 drugs   [ 1 drug ]	-	(1) A few patients (2) 1 patient Age distribution💬	Pediatric diseases
308	Progressive leukoencephalopathy "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"	-	-	-	(1) Less than 100 patients (2) 17 patients Age distribution💬	Pediatric diseases
309	Progressive myoclonus epilepsy "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME"	11 trials   0 / 0 / 3 / 0 💬	15 drugs   [ 2 drugs ]	4 genes   9 pathways	(1) About 3,000 patients (2) 33 patients Age distribution💬	Biobank Pediatric diseases
310	Congenital anomalies syndrome "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"	10 trials   2 / 7 / 0 / 0 💬	18 drugs   [ 10 drugs ]	3 genes   7 pathways	(1) About 4,000 patients (2) 28 patients Age distribution💬	Pediatric diseases
311	Congenital tricuspid stenosis	-	-	-	(1) About 500 patients (2) 2 patients Age distribution💬	Pediatric diseases
312	Congenital mitral stenosis	-	-	-	(1) About 100 patients (2) 8 patients Age distribution💬	Pediatric diseases
313	Congenital pulmonary vein stenosis	-	-	-	(1) About 80 patients (2) 1 patient Age distribution💬	Pediatric diseases
314	Vascular sling	-	-	-	(1) About 600 patients (2) 2 patients Age distribution💬	Pediatric diseases
315	Nail-Patella syndrome "LMX1B-associated nephropathy"	-	-	-	(1) About 500 patients (2) 7 patients Age distribution💬	Pediatric diseases
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"	4 trials   0 / 1 / 1 / 0 💬	10 drugs   [ 4 drugs ]	2 genes   9 pathways	(1) About 960 patients (2) 13 patients Age distribution💬	Pediatric diseases
317	Trifunctional protein deficiency	3 trials   0 / 0 / 0 / 0 💬	8 drugs   [ 4 drugs ]	1 gene   1 pathway	(1) Less than 100 patients (2) 3 patients Age distribution💬	Pediatric diseases
318	Citrin deficiency "NICCD", "Adult-onset type II citrullinemia", "CTLN2"	2 trials   0 / 1 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	(1) About 1,500 patients (2) 51 patients Age distribution💬	Biobank Animal model Pediatric diseases
319	Sepiapterin reductase deficiency	-	-	-	(1) Less than 100 patients (About one patient) (2) 2 patients Age distribution💬
320	Inherited glycosylphosphatidylinositol deficiency "Congenital glycosylphosphatidylinositol deficiency"	-	-	-	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
321	Non-ketotic hyperglycinemia	-	-	-	(1) Less than 100 patients (2) 1 patient Age distribution💬	Pediatric diseases
322	Beta-ketothiolase deficiency	-	-	-	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
323	Aromatic L-amino acid decarboxylase deficiency	-	-	-	(1) Less than 100 patients (About 10 cases) (2) 3 patients Age distribution💬	Pediatric diseases
324	Methylglutaconic aciduria "3-methylglutaconyl-CoA hydratase deficiency", "3-MGA", "Barth syndrome", "Costeff syndrome", "Mitochondrial respiratory chain disorder", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome"	3 trials   5 / 2 / 2 / 1 💬	4 drugs   [ 3 drugs ]	1 gene   8 pathways	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases
325	Hereditary autoinflammatory syndrome "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "Aicardi-Goutieres syndrome", "A20 haploinsufficiency"	6 trials   1 / 5 / 1 / 0 💬	10 drugs   [ 6 drugs ]	2 genes   33 pathways	(1) Less than 100 patients (Adult patients reported in all cases) (2) 9 patients Age distribution💬	Pediatric diseases
326	Osteopetrosis	20 trials   5 / 13 / 4 / 0 💬	52 drugs   [ 14 drugs ]	16 genes   78 pathways	(1) About 100 patients (2) 21 patients Age distribution💬	Animal model Pediatric diseases
327	Idiopathic thrombosis	-	-	-	(1) Based on the national survey of the research group, the total number of patients in Japan is estimated as about 2,000 patients. Occurrence per year in naonates and infants: Less than 100 patients, in adult: About 500 patients. (2) 177 patients Age distribution💬	Pediatric diseases
328	Anterior segment dysgenesis	-	-	-	(1) About 6,000 patients (2) 14 patients Age distribution💬
329	Aniridia	3 trials   0 / 2 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	(1) About 1,200 patients (2) 115 patients Age distribution💬
330	Congenital tracheal stenosis / Congenital subglottic stenosis [Congenital tracheal stenosis (~Mar 2018)] "Congenital tracheal stenosis", "Congenital subglottic stenosis"	1 trial   0 / 1 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) About 1,000 patients (2) 29 patients Age distribution💬	Pediatric diseases
331	Idiopathic multicentric castleman disease "Castleman disease"	30 trials   16 / 20 / 2 / 3 💬	44 drugs   [ 23 drugs ]	30 genes   148 pathways	(1) About 1,500 patients (2) 1,354 patients Age distribution💬
332	Gelatinous drop-like corneal dystrophy	-	-	-	(1) About 400 patients (2) 2 patients Age distribution💬
333	Hutchinson-Gilford syndrome "Hutchinson-Gilford progeria syndrome", "HGPS"	7 trials   2 / 5 / 0 / 0 💬	8 drugs   [ 3 drugs ]	4 genes   6 pathways	(1) Less than 100 patients (2) - Age distribution💬	Pediatric diseases