Disease The intractable diseases designated by MHLW, Japan

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Diseases : 338 - Clinical trials : 34,520 / Drugs : 19,957 - ( DrugBank : 2,195 ) / Drug target genes : 613 - Drug target pathways : 297

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients (1) MHLW, (2) Med expenses recipients (FY2021)
1	Spinal and bulbar muscular atrophy [Neu] 💬 "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome"	18 trials   1 / 10 / 2 / 1 💬	15 drugs   [ 8 drugs ]	10 genes   17 pathways	(1) 1,223 patients (2) 1,641 patients Age distribution💬
2	Amyotrophic lateral sclerosis [Neu] 💬 "ALS"	645 trials   227 / 290 / 231 / 26 💬	589 drugs   [ 163 drugs ]	150 genes   225 pathways	(1) 9,096 patients (2) 9,968 patients Age distribution💬
3	Spinal muscular atrophy [Neu] 💬 "Myelopathic muscular atrophy", "Spinal muscular atrophy type I", "SMA I", "Werdnig-Hoffman disease", "Spinal muscular atrophy type II", "SMA II", "Dubowitz disease", "Spinal muscular atrophy type III", "SMA III", "Kugelberg-Welander disease", "Spinal muscular atrophy type IV", "SMA IV"	237 trials   106 / 117 / 116 / 28 💬	123 drugs   [ 29 drugs ]	51 genes   75 pathways	(1) 712 patients (2) 929 patients Age distribution💬
4	Primary lateral sclerosis [Neu] 💬 "PLS"	5 trials   2 / 2 / 0 / 1 💬	13 drugs   [ 6 drugs ]	13 genes   25 pathways	(1) 175 patients (By the research group) (2) 140 patients Age distribution💬
5	Progressive supranuclear palsy [Neu] 💬 "PSP"	89 trials   45 / 42 / 9 / 6 💬	107 drugs   [ 40 drugs ]	65 genes   108 pathways	(1) About 8,100 patients (2) 12,557 patients Age distribution💬
6	Parkinson disease [Neu] 💬 "Disease Parkinson's"	2,307 trials   810 / 703 / 607 / 290 💬	2,007 drugs   [ 349 drugs ]	188 genes   199 pathways	(1) About 108,800 patients (estimated from Parkinson disease related diseases) (2) 140,473 patients Age distribution💬
7	Corticobasal degeneration [Neu] 💬 "Corticobasal syndrome", "CBD"	16 trials   5 / 3 / 1 / 0 💬	28 drugs   [ 13 drugs ]	9 genes   38 pathways	(1) 3,500 patients (2) 4,517 patients Age distribution💬
8	Huntington disease [Neu] 💬 "Huntington chorea"	242 trials   111 / 134 / 50 / 13 💬	205 drugs   [ 62 drugs ]	85 genes   159 pathways	(1) 933 patients (2) 918 patients Age distribution💬
9	Neuroacanthocytosis [Neu] 💬 "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) 35 patients Age distribution💬
10	Charcot-Marie-Tooth disease [Neu] 💬 "CMT", "Charcot-Marie-Tooth disease type 1", "CMT1", "Demyelinating CMT", "Charcot-Marie-Tooth disease type 2", "CMT2", "Axonal CMT", "Intermediate Charcot-Marie-Tooth disease", "CMT-I", "Intermediate CMT"	41 trials   25 / 17 / 24 / 4 💬	46 drugs   [ 9 drugs ]	11 genes   15 pathways	(1) 6,250 patients (By the research group) (2) 781 patients Age distribution💬
11	Myasthenia gravis [Neu] 💬 "MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG"	332 trials   110 / 106 / 204 / 29 💬	234 drugs   [ 81 drugs ]	45 genes   127 pathways	(1) 22,998 patients (2) 25,568 patients Age distribution💬
12	Congenital myasthenic syndrome [Neu] 💬 "End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome"	5 trials   1 / 0 / 0 / 0 💬	7 drugs   [ 3 drugs ]	5 genes   13 pathways	(1) Less than 100 patients (By the research group) (2) 11 patients Age distribution💬
13	Multiple sclerosis/Neuromyelitis optica [Neu] 💬 "Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis"	3,340 trials   996 / 796 / 1256 / 514 💬	2,163 drugs   [ 383 drugs ]	241 genes   238 pathways	(1) 17,073 patients (2) 21,967 patients Age distribution💬
14	Chronic inflammatory demyelinating polyneuropathy [Neu] 💬 "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy"	175 trials   46 / 94 / 76 / 14 💬	161 drugs   [ 41 drugs ]	13 genes   24 pathways	(1) 4,633 patients (2) 5,108 patients Age distribution💬
15	Inclusion body myositis [Neu] 💬	42 trials   31 / 19 / 25 / 5 💬	33 drugs   [ 11 drugs ]	12 genes   123 pathways	(1) 1,000 patients (By the research group) (2) 756 patients Age distribution💬
16	Crow-Fukase syndrome [Neu] 💬 "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome"	13 trials   2 / 7 / 2 / 1 💬	14 drugs   [ 7 drugs ]	4 genes   75 pathways	(1) 340 patients (By the research group) (2) 223 patients Age distribution💬
17	Multiple system atrophy [Neu] 💬 "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome"	119 trials   43 / 40 / 40 / 7 💬	138 drugs   [ 44 drugs ]	59 genes   111 pathways	(1) 11,733 patients (2) 11,255 patients Age distribution💬
18	Spinocerebellar degeneration [Neu] 💬 "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"	76 trials   20 / 46 / 19 / 5 💬	98 drugs   [ 31 drugs ]	44 genes   65 pathways	(1) 25,447 patients (2) 26,630 patients Age distribution💬
19	Lysosomal storage disease [Met] 💬 "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B", "Niemann-Pick type A", "NPD-A", "NPA", "Niemann-Pick type B", "NPD-B", "NPB", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "MLD", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Hurler-Scheie 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", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"	899 trials   549 / 383 / 342 / 126 💬	684 drugs   [ 99 drugs ]	51 genes   182 pathways	(1) 911 patients (2) 1,582 patients Age distribution💬
20	Adrenoleukodystrophy [Met] 💬 "ALD", "Childhood cerebral adrenoleukodystrophy", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral adrenomyeloneuropathy", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral adrenoleukodystrophy", "ACALD", "Cerebellum-brain stem type adrenoleukodystrophy", "Addison-only adrenoleukodystrophy", "AO ALD", "Adrenoleukodystrophy (Female onset)"	61 trials   42 / 36 / 28 / 7 💬	90 drugs   [ 31 drugs ]	23 genes   126 pathways	(1) 193 patients (2) 252 patients Age distribution💬
21	Mitochondrial disease [Met] 💬	39 trials   7 / 21 / 15 / 2 💬	42 drugs   [ 32 drugs ]	47 genes   67 pathways	(1) 1,087 patients (2) 1,608 patients Age distribution💬
22	Moyamoya disease [Neu] 💬 "Occlusive disease in circle of Willis"	17 trials   3 / 2 / 1 / 3 💬	22 drugs   [ 17 drugs ]	33 genes   45 pathways	(1) 15,177 patients (2) 13,431 patients Age distribution💬
23	Prion disease [Neu] 💬 "Creutzfeldt-Jakob disease", "CJD", "Sporadic Creutzfeldt-Jakob disease", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Environmentally acquired CJD", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD"	4 trials   0 / 1 / 0 / 0 💬	5 drugs   [ 2 drugs ]	-	(1) 584 patients (2) 481 patients Age distribution💬
24	Subacute sclerosing panencephalitis [Neu] 💬 "SSPE"	-	-	-	(1) About 100 patients (2) 66 patients Age distribution💬
25	Progressive multifocal leukoencephalopathy [Neu] 💬 "PML", "Leukoencephalopathy, progressive multifocal"	26 trials   3 / 8 / 0 / 2 💬	35 drugs   [ 22 drugs ]	8 genes   37 pathways	(1) Less than 100 patients (By the research group) (2) 88 patients Age distribution💬
26	HTLV-1-associated myelopathy [Neu] 💬 "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy"	29 trials   10 / 15 / 10 / 0 💬	47 drugs   [ 29 drugs ]	34 genes   119 pathways	(1) 3,000 patients (By the research group) (2) 977 patients Age distribution💬
27	Idiopathic basal ganglia calcification [Neu] 💬 "IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC"	1 trial   0 / 1 / 0 / 0 💬	1 drug   [ 1 drug ]	-	(1) 200 patients (By the research group) (2) 127 patients Age distribution💬
28	Systemic amyloidosis [Met] 💬 "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Immunoglobulin-related amyloidosis", "Reactive AA amyloidosis", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis", "Senile systemic amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP"	267 trials   82 / 116 / 111 / 11 💬	241 drugs   [ 77 drugs ]	68 genes   180 pathways	(1) 1,802 patients (2) 4,588 patients Age distribution💬
29	Ullrich disease [Neu] 💬 "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"	-	-	-	(1) About 300 patients (By the research group) (2) 21 patients Age distribution💬
30	Distal myopathy [Neu] 💬 "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"	15 trials   1 / 5 / 12 / 0 💬	17 drugs   [ 3 drugs ]	1 gene   1 pathway	(1) 400 patients (By the research group) (2) 294 patients Age distribution💬
31	Bethlem myopathy [Neu] 💬 "Beth Rem myopathy"	-	-	-	(1) Less than 100 patients (By the research group) (2) 19 patients Age distribution💬
32	Autophagic vacuolar myopathy [Neu] 💬 "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) 9 patients Age distribution💬
33	Schwartz-Jampel syndrome [Neu] 💬 "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome"	-	-	-	(1) Less than 100 patients (By the research group) (2) 1 patient Age distribution💬
34	Neurofibromatosis [Skin] 💬 "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2"	133 trials   54 / 85 / 15 / 8 💬	186 drugs   [ 67 drugs ]	79 genes   190 pathways	(1) 3,588 patients (2) 4,056 patients Age distribution💬
35	Pemphigus [Skin] 💬 "Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP"	99 trials   44 / 36 / 49 / 7 💬	124 drugs   [ 36 drugs ]	23 genes   169 pathways	(1) About 6,000 patients (2) 3,236 patients Age distribution💬
36	Epidermolysis bullosa [Skin] 💬 "Epidermolysis bullosa simplex", "EBS", "Junctional epidermolysis bullosa", "JEB", "Junctional epidermolysis bullosa type Herlitz", "JEB-H", "Junctional epidermolysis bullosa type non-Herlitz", "JEB-nH", "Dominant dystrophic epidermolysis bullosa", "DDEB", "Dystrophic epidermolysis bullosa", "DEB", "Epidermolysis bullosa dystrophica", "Recessive dystrophic epidermolysis bullosa", "RDEB", "Kindler syndrome"	163 trials   117 / 99 / 53 / 16 💬	185 drugs   [ 46 drugs ]	50 genes   125 pathways	(1) 347 patients (2) 290 patients Age distribution💬
37	Generalised pustular psoriasis [Skin] 💬 "Pustular psoriasis", "Acute generalised pustular psoriasis, von Zumbusch type", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities", "Infantile generalized pustular psoriasis", "Pediatric generalized pustular psoriasis"	79 trials   27 / 30 / 39 / 8 💬	57 drugs   [ 21 drugs ]	20 genes   102 pathways	(1) 2,072 patients (2) 2,070 patients Age distribution💬
38	Stevens-Johnson syndrome [Skin] 💬 "SJS", "Mucocutaneous ocular syndrome"	17 trials   11 / 11 / 4 / 2 💬	29 drugs   [ 9 drugs ]	15 genes   101 pathways	(1) About 1,500 patients (2) 169 patients Age distribution💬
39	Toxic epidermal necrolysis [Skin] 💬 "Toxic epidermal necrosis", "TEN"	13 trials   5 / 8 / 2 / 1 💬	19 drugs   [ 8 drugs ]	11 genes   103 pathways	(1) About 200 patients (2) 70 patients Age distribution💬
40	Takayasu arteritis [Imm] 💬 "Aortitis syndrome", "Pulseless disease"	24 trials   0 / 5 / 8 / 3 💬	40 drugs   [ 18 drugs ]	23 genes   110 pathways	(1) About 7,000 patients (2) 4,587 patients Age distribution💬
41	Giant cell arteritis [Imm] 💬 "Temporal arteritis"	131 trials   60 / 42 / 79 / 15 💬	139 drugs   [ 36 drugs ]	33 genes   125 pathways	(1) About 700 patients (By the research group) (2) 2,066 patients Age distribution💬
42	Polyarteritis nodosa [Imm] 💬 "PAN"	15 trials   0 / 6 / 6 / 2 💬	26 drugs   [ 16 drugs ]	26 genes   105 pathways	(1) [Disease ID 42-43 total] 9,610 patients (2) 2,186 patients Age distribution💬
43	Microscopic polyangiitis [Imm] 💬 "MPA"	88 trials   61 / 44 / 42 / 21 💬	81 drugs   [ 21 drugs ]	15 genes   90 pathways	(1) [Disease ID 42-43 total] 9,610 patients (2) 10,626 patients Age distribution💬
44	Wegener granulomatosis [Imm] 💬 "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis"	98 trials   67 / 40 / 54 / 21 💬	108 drugs   [ 28 drugs ]	22 genes   81 pathways	(1) 1,942 patients (2) 3,223 patients Age distribution💬
45	Eosinophilic granulomatosis with Polyangiitis [Imm] 💬 "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS"	31 trials   8 / 7 / 16 / 5 💬	44 drugs   [ 18 drugs ]	18 genes   101 pathways	(1) About 1,800 patients (By the research group) (2) 5,839 patients Age distribution💬
46	Malignant rheumatoid arthritis [Imm] 💬 "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis"	4,356 trials   1358 / 1018 / 1235 / 670 💬	2,567 drugs   [ 415 drugs ]	192 genes   228 pathways	(1) 6,255 patients (2) 5,075 patients Age distribution💬
47	Buerger disease [Imm] 💬 "Thromboangiitis obliterans"	9 trials   0 / 3 / 1 / 0 💬	14 drugs   [ 7 drugs ]	5 genes   16 pathways	(1) 7,109 patients (2) 1,858 patients Age distribution💬
48	Primary antiphospholipid syndrome [Imm] 💬 "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS"	5 trials   1 / 2 / 1 / 0 💬	6 drugs   [ 4 drugs ]	1 gene   7 pathways	(1) About 10,000 patients (By the research group) (2) 892 patients Age distribution💬
49	Systemic lupus erythematosus [Imm] 💬 "SLE"	993 trials   415 / 404 / 286 / 118 💬	702 drugs   [ 184 drugs ]	116 genes   200 pathways	(1) 60,122 patients (2) 64,304 patients Age distribution💬
50	Dermatomyositis [Imm] 💬 "Polymyositis"	194 trials   54 / 83 / 61 / 17 💬	244 drugs   [ 89 drugs ]	50 genes   151 pathways	(1) About 19,500 patients (2) 25,259 patients Age distribution💬
51	Scleroderma [Skin] 💬 "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc"	525 trials   274 / 260 / 151 / 63 💬	565 drugs   [ 148 drugs ]	114 genes   217 pathways	(1) About 20,000 patients estimated though the latest number of patients unknown (2) 26,851 patients Age distribution💬
52	Mixed connective tissue disease [Skin] 💬 [Imm] 💬	8 trials   0 / 5 / 1 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   1 pathway	(1) 11,005 patients (2) 10,009 patients Age distribution💬
53	Sjogren syndrome [Imm] 💬 "Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS"	305 trials   82 / 190 / 40 / 34 💬	325 drugs   [ 104 drugs ]	58 genes   188 pathways	(1) About 66,300 patients (By the research group) (2) 18,118 patients Age distribution💬
54	Adult still disease [Imm] 💬 "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) 4,206 patients Age distribution💬
55	Relapsing polychondritis [Imm] 💬	8 trials   1 / 4 / 0 / 0 💬	10 drugs   [ 9 drugs ]	12 genes   101 pathways	(1) About 500 patients (By the research group) (2) 936 patients Age distribution💬
56	Behcet disease [Imm] 💬 "Behçet disease", "BD", "Complete Behcet disease", "Complete Behçet disease", "CBD", "Incomplete Behcet disease", "Incomplete Behçet disease", "Special-type Behcet disease", "Special-type Behçet disease", "Special-type BD"	81 trials   10 / 20 / 26 / 6 💬	107 drugs   [ 30 drugs ]	36 genes   116 pathways	(1) 20,035 patients (2) 15,122 patients Age distribution💬
57	Idiopathic dilated cardiomyopathy [Card] 💬	11 trials   3 / 6 / 1 / 3 💬	23 drugs   [ 12 drugs ]	9 genes   35 pathways	(1) 27,968 patients (2) 18,724 patients Age distribution💬
58	Hypertrophic cardiomyopathy [Card] 💬 "HCM", "Nonobstructive hypertrophic cardiomyopathy", "Nonobstructive HCM", "Obstructive hypertrophic cardiomyopathy", "Obstructive HCM", "OHCM", "Hypertrophic obstructive cardiomyopathy", "HOCM", "Mid-ventricular obstructive hypertrophic cardiomyopathy", "MVOHCM", "Mid-ventricular hypertrophic obstructive cardiomyopathy", "MVHOCM", "Apical hypertrophic cardiomyopathy", "APH", "Expansion phase hypertrophic cardiomyopathy"	126 trials   21 / 55 / 43 / 14 💬	135 drugs   [ 42 drugs ]	46 genes   162 pathways	(1) 4,667 patients (2) 4,201 patients Age distribution💬
59	Restricted cardiomyopathy [Card] 💬 "Restrictive cardiomyopathy", "Constrictive cardiomyopathy"	-	-	-	(1) 50 patients (2) 60 patients Age distribution💬
60	Aplastic anemia [Hem] 💬 "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia"	245 trials   53 / 143 / 30 / 21 💬	318 drugs   [ 86 drugs ]	44 genes   166 pathways	(1) 10,287 patients (2) 8,348 patients Age distribution💬
61	Autoimmune hemolytic anemia [Hem] 💬 "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome"	146 trials   29 / 69 / 68 / 6 💬	131 drugs   [ 59 drugs ]	28 genes   158 pathways	(1) About 2,600 patients (2) 1,178 patients Age distribution💬
62	Paroxysmal nocturnal hemoglobinuria [Hem] 💬 "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type"	292 trials   107 / 106 / 174 / 23 💬	151 drugs   [ 49 drugs ]	22 genes   108 pathways	(1) About 400 patients (2) 959 patients Age distribution💬
63	Idiopathic thrombocytopenic purpura [Hem] 💬 "Primary immune thrombocytopenia"	391 trials   148 / 85 / 191 / 61 💬	235 drugs   [ 50 drugs ]	49 genes   139 pathways	(1) 24,956 patients (2) 16,972 patients Age distribution💬
64	Thrombotic thrombocytopenic purpura [Hem] 💬 "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP"	92 trials   29 / 31 / 50 / 8 💬	85 drugs   [ 21 drugs ]	18 genes   76 pathways	(1) Estimated occurrence: About 500 patients per year (2) 361 patients Age distribution💬
65	Primary immunodeficiency [Hem] 💬 "X-linked severe combined 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", "WAS", "Ataxia telangiectasia", "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", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 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", "Immunodeficiency associated with FCN3 mutation", "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"	500 trials   211 / 205 / 173 / 59 💬	614 drugs   [ 119 drugs ]	92 genes   217 pathways	(1) 1,383 patients (2) 1,964 patients Age distribution💬
66	IgA nephropathy [Kid] 💬 "IgA nephritis", "Berger disease", "IgA-IgG nephropathy"	275 trials   30 / 87 / 97 / 30 💬	258 drugs   [ 82 drugs ]	36 genes   140 pathways	(1) About 33,000 patients (By the research group) (2) 12,447 patients Age distribution💬
67	Polycystic kidney disease [Kid] 💬 "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD"	221 trials   97 / 78 / 110 / 29 💬	212 drugs   [ 55 drugs ]	40 genes   151 pathways	(1) About 31,000 patients (By the research group) (2) 12,164 patients Age distribution💬
68	Ossification of the ligamentum flavum [Bone] 💬 "Ossification of ligamentum flavum", "OLF"	2 trials   0 / 0 / 0 / 0 💬	4 drugs   [ 4 drugs ]	1 gene   3 pathways	(1) 2,360 patients (2) 6,104 patients Age distribution💬
69	Ossification of posterior longitudinal ligament [Bone] 💬	2 trials   0 / 0 / 0 / 0 💬	2 drugs   [ 3 drugs ]	-	(1) 33,346 patients (2) 32,406 patients Age distribution💬
70	Spinal stenosis [Bone] 💬 "Extensive spinal canal stenosis"	95 trials   14 / 13 / 8 / 29 💬	169 drugs   [ 61 drugs ]	68 genes   90 pathways	(1) 5,944 patients (2) 5,000 patients Age distribution💬
71	Idiopathic osteonecrosis of the femoral head [Bone] 💬 "Idiopathic femoral head necrosis"	2 trials   0 / 1 / 0 / 0 💬	3 drugs   [ 3 drugs ]	3 genes   7 pathways	(1) 15,388 patients (2) 18,817 patients Age distribution💬
72	Pituitary ADH secretion disorder [Endo] 💬 "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"	41 trials   2 / 8 / 16 / 3 💬	27 drugs   [ 8 drugs ]	7 genes   10 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 3,701 patients Age distribution💬
73	TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism"	1 trial   0 / 0 / 1 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) [Disease ID 72-78 total] 17,069 patients (2) 173 patients Age distribution💬
74	Prolactin secreting pituitary adenoma [Endo] 💬 "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma"	19 trials   3 / 6 / 1 / 1 💬	28 drugs   [ 10 drugs ]	14 genes   65 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 2,177 patients Age distribution💬
75	Cushing disease [Endo] 💬 "Cushing"	205 trials   126 / 86 / 92 / 38 💬	176 drugs   [ 45 drugs ]	61 genes   127 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 911 patients Age distribution💬
76	Pituitary gonadotropin secretion hyperthyroidism [Endo] 💬 "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma"	29 trials   0 / 0 / 10 / 8 💬	44 drugs   [ 14 drugs ]	5 genes   15 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 36 patients Age distribution💬
77	Growth hormone secreting pituitary adenoma [Endo] 💬 "Pituitary growth hormone secretion hyperthyroidism"	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	2 genes   20 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 4,388 patients Age distribution💬
78	Hypopituitarism [Endo] 💬 "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", "Childhood GHD", "Childhood-onset GHD", "CGHD", "Adult GHD", "Adult-onset GHD", "AGHD", "Prolactin deficiency", "PRL deficiency"	492 trials   130 / 105 / 159 / 65 💬	341 drugs   [ 47 drugs ]	45 genes   100 pathways	(1) [Disease ID 72-78 total] 17,069 patients (2) 19,006 patients Age distribution💬
79	Homozygous familial hypercholesterolemia [Met] 💬	145 trials   51 / 42 / 94 / 10 💬	114 drugs   [ 26 drugs ]	8 genes   17 pathways	(1) 140 patients (2) 371 patients Age distribution💬
80	Resistance to thyroid hormone [Endo] 💬 "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH"	1 trial   1 / 0 / 0 / 0 💬	5 drugs   [ 3 drugs ]	3 genes   3 pathways	(1) About 3,000 patients (By the research group) (2) 45 patients Age distribution💬
81	Congenital adrenal hyperplasia [Endo] 💬 "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency"	87 trials   30 / 40 / 39 / 6 💬	87 drugs   [ 23 drugs ]	12 genes   68 pathways	(1) About 1,800 patients (2) 945 patients Age distribution💬
82	Congenital adrenal hypoplasia [Endo] 💬 "X-linked congenital adrenal hypoplasia", "DAX-1 deficiency", "Congenital adrenal hypoplasia, autosomal recessive form", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome"	-	-	-	(1) About 1,000 patients (2) 52 patients Age distribution💬
83	Addison disease [Endo] 💬 "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome"	20 trials   6 / 5 / 3 / 6 💬	39 drugs   [ 13 drugs ]	6 genes   18 pathways	(1) About 1,000 patients (By the research group) (2) 327 patients Age distribution💬
84	Sarcoidosis [Resp] 💬	149 trials   52 / 70 / 31 / 25 💬	202 drugs   [ 78 drugs ]	66 genes   169 pathways	(1) 26,763 patients (2) 15,655 patients Age distribution💬
85	Idiopathic interstitial pneumonia [Resp] 💬 "IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "Cryptogenic organizing pneumonia", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP"	627 trials   216 / 257 / 167 / 59 💬	443 drugs   [ 120 drugs ]	99 genes   212 pathways	(1) More than about 15,000 patients (Medical care eligibility certificate holders in fiscal year 2,014: 8,846 patients) (2) 17,665 patients Age distribution💬
86	Pulmonary arterial hypertension [Resp] 💬 "PAH", "IPAH", "HPAH", "Eisenmenger syndrome"	1,205 trials   404 / 309 / 485 / 170 💬	684 drugs   [ 124 drugs ]	100 genes   193 pathways	(1) 2,299 patients (2) 4,319 patients Age distribution💬
87	Pulmonary veno-occlusive disease [Resp] 💬 "Pulmonary capillary hemangiomatosis", "PVOD", "PCH"	3 trials   1 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	4 genes   45 pathways	(1) About 100 patients (2) 24 patients Age distribution💬
88	Chronic thromboembolic pulmonary hypertension [Resp] 💬 "CTEPH", "Idiopathic chronic pulmonary thromboembolism"	157 trials   77 / 51 / 70 / 18 💬	107 drugs   [ 22 drugs ]	14 genes   54 pathways	(1) 1,810 patients (2) 4,843 patients Age distribution💬
89	Lymphangioleiomyomatosis [Resp] 💬 "LAM", "Sporadic lymphangioleiomyomatosis", "Sporadic LAM", "Lymphangioleiomyomatosis with tuberous sclerosis", "TSC-LAM"	38 trials   14 / 18 / 8 / 2 💬	38 drugs   [ 15 drugs ]	18 genes   118 pathways	(1) 689 patients (2) 912 patients Age distribution💬
90	Retinitis pigmentosa [Eye] 💬 "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy"	147 trials   99 / 76 / 50 / 9 💬	176 drugs   [ 43 drugs ]	49 genes   110 pathways	(1) 27,158 patients (2) 22,223 patients Age distribution💬
91	Budd-Chiari syndrome [Gast] 💬 "BCS", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome"	4 trials   0 / 0 / 0 / 1 💬	5 drugs   [ 4 drugs ]	4 genes   14 pathways	(1) 293 patients (2) 218 patients Age distribution💬
92	Idiopathic portal hypertension [Gast] 💬 "Banti syndrome"	-	-	-	(1) About 1,000 patients (2) 301 patients Age distribution💬
93	Primary biliary cholangitis [Gast] 💬 "Primary biliary cirrhosis", "PBC", "Asymptomatic primary biliary cholangitis", "Asymptomatic rimary biliary cirrhosis", "aPBC", "Symptomatic primary biliary cholangitis", "Symptomatic primary biliary cirrhosis", "sPBC"	298 trials   148 / 136 / 110 / 64 💬	252 drugs   [ 59 drugs ]	35 genes   115 pathways	(1) 19,701 patients (2) 16,996 patients Age distribution💬
94	Primary sclerosing cholangitis [Gast] 💬 "PSC", "Intrahepatic primary sclerosing cholangitis", "Intrahepatic PSC", "Extrahepatic primary sclerosing cholangitis", "Extrahepatic PSC", "Intrahepatic and extrahepatic primary sclerosing cholangitis", "Intrahepatic and extrahepatic PSC"	148 trials   68 / 66 / 51 / 10 💬	118 drugs   [ 39 drugs ]	18 genes   141 pathways	(1) About 400 patients (2) 1,022 patients Age distribution💬
95	Autoimmune hepatitis [Gast] 💬	52 trials   11 / 25 / 11 / 11 💬	68 drugs   [ 27 drugs ]	18 genes   111 pathways	(1) About 10,000 patients (2) 6,884 patients Age distribution💬
96	Crohn disease [Gast] 💬 "Terminal ileitis"	2,442 trials   898 / 766 / 1004 / 332 💬	1,278 drugs   [ 248 drugs ]	142 genes   209 pathways	(1) 36,418 patients (2) 48,320 patients Age distribution💬
97	Ulcerative colitis [Gast] 💬	2,630 trials   943 / 957 / 1089 / 298 💬	1,459 drugs   [ 265 drugs ]	144 genes   202 pathways	(1) 143,733 patients (2) 138,079 patients Age distribution💬
98	Eosinophilic gastrointestinal disease [Gast] 💬 "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "Neonatal Food-protein induced enterocolitis syndrome", "N-FPIES"	172 trials   48 / 64 / 90 / 13 💬	149 drugs   [ 39 drugs ]	38 genes   135 pathways	(1) About 5,000 patients (By the research group) (2) 1,184 patients Age distribution💬
99	Chronic intestinal pseudo-obstruction [Gast] 💬 "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP"	4 trials   0 / 4 / 0 / 0 💬	9 drugs   [ 2 drugs ]	1 gene   4 pathways	(1) Child case: 100 patients, Adult case: 1,300 patients (2) 186 patients Age distribution💬
100	Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬 "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"	-	-	-	(1) Less than 100 patients (By the research group) (2) 1 patient Age distribution💬
101	Congenital isolated hypoganglionosis [Gast] 💬 "Intestinal ganglion cells insignificant disease"	-	-	-	(1) About 100 patients (By the research group) (2) 17 patients Age distribution💬
102	Rubinstein-Taybi syndrome [Chr] 💬 "RSTS", "Histone acetylation disorder"	3 trials   0 / 2 / 0 / 0 💬	5 drugs   [ 1 drug ]	7 genes   17 pathways	(1) About 200 patients (By the research group) (2) 7 patients Age distribution💬
103	Cardio-facio-cutaneous syndrome [Chr] 💬 "CFC syndrome"	-	-	-	(1) About 200 patients (By the research group) (2) 7 patients Age distribution💬
104	Costello syndrome [Chr] 💬	-	-	-	(1) About 100 patients (By the research group) (2) 10 patients Age distribution💬
105	CHARGE syndrome [Chr] 💬	-	-	-	(1) About 5,000 patients (By the research group) (2) 25 patients Age distribution💬
106	Cryopyrin-associated periodic syndrome [Imm] 💬 "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"	42 trials   29 / 14 / 13 / 5 💬	24 drugs   [ 4 drugs ]	4 genes   48 pathways	(1) About 100 patients (By the research group) (2) 83 patients Age distribution💬
107	Juvenile idiopathic arthritis [Imm] 💬 "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA"	447 trials   181 / 82 / 206 / 69 💬	297 drugs   [ 57 drugs ]	52 genes   146 pathways	(1) About 8,000 patients (2) 918 patients Age distribution💬
108	TNF receptor-associated periodic syndrome [Imm] 💬	4 trials   5 / 1 / 2 / 1 💬	7 drugs   [ 1 drug ]	1 gene   44 pathways	(1) Less than 100 patients (By the research group) (2) 33 patients Age distribution💬
109	Atypical hemolytic uremic syndrome [Kid] 💬 "aHUS"	114 trials   75 / 41 / 54 / 18 💬	36 drugs   [ 7 drugs ]	3 genes   11 pathways	(1) Less than 200 patients (By the research group) (2) 78 patients Age distribution💬
110	Blau syndrome [Imm] 💬 "Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS"	-	-	-	(1) Less than 100 patients (By the research group) (2) 22 patients Age distribution💬
111	Congenital myopathy [Neu] 💬 "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy"	10 trials   11 / 8 / 1 / 2 💬	17 drugs   [ 5 drugs ]	1 gene   9 pathways	(1) About 1,000 patients (2) 351 patients Age distribution💬
112	Marinesco-Sjogren syndrome [Neu] 💬 "Hereditary cerebellar ataxia-childhood cataracts"	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬
113	Muscular dystrophy [Neu] 💬 "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "Limb-girdle muscular dystrophy", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "Congenital muscular dystrophy", "Facioscapulohumeral muscular dystrophy", "Emery-Dreifuss muscular dystrophy", "Oculopharyngeal muscular dystrophy", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities"	646 trials   401 / 281 / 275 / 65 💬	471 drugs   [ 105 drugs ]	59 genes   170 pathways	(1) About 25,400 patients (2) 5,246 patients Age distribution💬
114	Non-dystrophic myotonia syndrome [Neu] 💬 "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia"	13 trials   1 / 3 / 5 / 0 💬	19 drugs   [ 5 drugs ]	18 genes   10 pathways	(1) About 1,000 patients (2) 23 patients Age distribution💬
115	Hereditary periodic paralysis [Neu] 💬 "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) 60 patients Age distribution💬
116	Atopic myelitis [Neu] 💬 "Idiopathic eosinophilic myelitis"	-	-	-	(1) About 1,000 patients (2) 47 patients Age distribution💬
117	Syringomyelia [Neu] 💬 "Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia"	3 trials   0 / 2 / 0 / 0 💬	5 drugs   [ 1 drug ]	-	(1) About 3,000 patients (2) 602 patients Age distribution💬
118	Myelomeningocele [Neu] 💬 "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"	5 trials   1 / 1 / 0 / 1 💬	7 drugs   [ 4 drugs ]	2 genes   10 pathways	(1) 5.0~6.0 cases occur per 10,000 born (500~600 child patients are born per year) (2) 124 patients Age distribution💬
119	Isaacs syndrome [Neu] 💬 "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"	-	-	-	(1) About 100 patients (2) 108 patients Age distribution💬
120	Hereditary dystonia [Neu] 💬 "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "DYT14 dystonia", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "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", "CSE", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "MDS", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "PED", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "EKD2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Classical PKAN", "Atypical PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "Classical INAD", "Atypical 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", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35"	26 trials   11 / 3 / 18 / 3 💬	19 drugs   [ 3 drugs ]	2 genes   2 pathways	(1) About 500 patients (2) 113 patients Age distribution💬
121	Neuroferritinopathy [Neu] 💬	-	-	-	(1) Less than 100 patients (2) 2 patients Age distribution💬
122	Superficial siderosis [Neu] 💬 "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis"	3 trials   0 / 0 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) Less than 100 patients (2) 198 patients Age distribution💬
123	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "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) 5 patients Age distribution💬
124	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [Neu] 💬 "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease"	12 trials   10 / 7 / 2 / 2 💬	14 drugs   [ 5 drugs ]	3 genes   11 pathways	(1) About 200 patients (2) 187 patients Age distribution💬
125	Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬 "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 [Neu] 💬	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬
127	Frontotemporal lobar degeneration [Neu] 💬 "Frontotemporal dementia", "Semantic dementia"	90 trials   32 / 36 / 31 / 8 💬	87 drugs   [ 30 drugs ]	39 genes   88 pathways	(1) About 12,000 patients (2) 1,311 patients Age distribution💬
128	Bickerstaff brainstem encephalitis [Neu] 💬	-	-	-	(1) Occurrence: About 100 patients per year (2) 77 patients Age distribution💬
129	Acute encephalopathy with biphasic seizures and late reduced diffusion [Neu] 💬 "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) 46 patients Age distribution💬
130	Congenital insensitivity to pain with anhydrosis [Neu] 💬 "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5"	-	-	-	(1) About 200~300 patients (2) 42 patients Age distribution💬
131	Alexander disease [Neu] 💬 "ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3"	4 trials   3 / 3 / 4 / 0 💬	4 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 46 patients Age distribution💬
132	Congenital supranuclear bulbar palsy [Neu] 💬 "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"	-	-	-	(1) About 100 patients (2) 8 patients Age distribution💬
133	Moebius syndrome [Neu] 💬 "Mobius syndrome", "Möbius syndrome"	-	-	-	(1) About 1,000 patients (2) 13 patients Age distribution💬
134	Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome"	1 trial   0 / 0 / 0 / 1 💬	1 drug   [ - ]	-	(1) About 500 patients (2) 13 patients Age distribution💬
135	Aicardi syndrome [Neu] 💬	1 trial   0 / 1 / 0 / 0 💬	9 drugs   [ 3 drugs ]	-	(1) Less than 100 patients (2) 15 patients Age distribution💬
136	Hemimegalencephaly [Neu] 💬 "Unilateral megalencephaly"	-	-	-	(1) Less than 100 patients (2) 24 patients Age distribution💬
137	Focal cortical dysplasia [Neu] 💬 "FCD", "FCD type 1a", "FCD type 1b", "FCD type 1c", "FCD type 2a", "FCD type 2b", "FCD type 3a", "FCD type 3b", "FCD type 3c", "FCD type 3d"	9 trials   0 / 6 / 0 / 0 💬	5 drugs   [ 3 drugs ]	1 gene   51 pathways	(1) A few thousand patients (2) 72 patients Age distribution💬
138	Nerve cell migration disorder [Neu] 💬 "Lissencephaly", "Neuronal migration defect", "Classical lissencephaly", "Ectopic gray matter", "Subcortical ectopic gray matter", "Periventricular nodular ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome", "Perisylvian polymicrogyria", "X-linked Lissencephaly"	1 trial   0 / 1 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   106 pathways	(1) About 1,000 patients (2) 60 patients Age distribution💬
139	Congenital cerebral hypomyelination [Neu] 💬 "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", "Free sialic acid storage 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) 38 patients Age distribution💬
140	Dorabe syndrome [Neu] 💬 "Dravet syndrome"	116 trials   46 / 25 / 80 / 11 💬	65 drugs   [ 17 drugs ]	50 genes   64 pathways	(1) About 3,000 patients (2) 67 patients Age distribution💬
141	Mesial temporal lobe epilepsy with hippocampal sclerosis [Neu] 💬 "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy"	1 trial   1 / 1 / 0 / 0 💬	1 drug   [ - ]	-	(1) About 5,000 patients (2) 73 patients Age distribution💬
142	Myoclonic absence epilepsy [Neu] 💬	-	-	-	(1) Less than 100 patients (2) 4 patients Age distribution💬
143	Epilepsy with myoclonic-atonic seizure [Neu] 💬 "Epilepsy with myoclonic cataplexy"	-	-	-	(1) Less than 100 patients (2) 22 patients Age distribution💬
144	Lennox-Gastaut syndrome [Neu] 💬	111 trials   35 / 17 / 79 / 8 💬	72 drugs   [ 14 drugs ]	49 genes   61 pathways	(1) [Disease ID 144-148 total] About 4,300 patients (2) 282 patients Age distribution💬
145	West syndrome [Neu] 💬 "Infantile spasm"	43 trials   16 / 15 / 18 / 9 💬	52 drugs   [ 15 drugs ]	28 genes   26 pathways	(1) [Disease ID 144-148 total] About 4,300 patients (2) 229 patients Age distribution💬
146	Ohtahara syndrome [Neu] 💬 "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 [Neu] 💬	-	-	-	(1) [Disease ID 144-148 total] About 4,300 patients (2) 10 patients Age distribution💬
148	Epilepsy of infancy with migrating focal seizure [Neu] 💬 "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 [Neu] 💬 "One side convulsions", "Hemiplegia", "Epilepsy syndrome"	25 trials   3 / 4 / 8 / 3 💬	35 drugs   [ 13 drugs ]	16 genes   22 pathways	(1) Less than 100 patients (2) 33 patients Age distribution💬
150	Ring chromosome 20 epilepsy syndrome [Neu] 💬 "Ring chromosome 20 syndrome"	-	-	-	(1) Less than 100 patients (2) 15 patients Age distribution💬
151	Rasmussen encephalitis [Neu] 💬	1 trial   0 / 1 / 1 / 0 💬	2 drugs   [ 1 drug ]	5 genes   33 pathways	(1) Less than 100 patients (2) 46 patients Age distribution💬
152	PCDH19 related syndrome [Neu] 💬 "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy"	10 trials   5 / 5 / 5 / 1 💬	7 drugs   [ 1 drug ]	16 genes   7 pathways	(1) Less than 100 patients (2) 13 patients Age distribution💬
153	Acute encephalitis with refractory, repetitive partial seizure [Neu] 💬 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) 55 patients Age distribution💬
154	Epilepsy with continuous spikes and waves during slow sleep [Neu] 💬 "Epileptic encephalopathy with continuous spike-and-wave during sleep"	7 trials   0 / 7 / 0 / 0 💬	4 drugs   [ 3 drugs ]	13 genes   7 pathways	(1) [Disease ID 154-155 total] About 400 patients (2) 27 patients Age distribution💬
155	Acquired aphasia with convulsive disorder [Neu] 💬 "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) 8 patients Age distribution💬
156	Rett syndrome [Neu] 💬 "Typical Rett syndrome", "Atypical Rett syndrome"	44 trials   4 / 24 / 16 / 0 💬	61 drugs   [ 23 drugs ]	57 genes   83 pathways	(1) About 1,000 patients (2) 98 patients Age distribution💬
157	Sturge-Weber syndrome [Neu] 💬 "Síndrome de Sturge-Weber"	10 trials   3 / 6 / 1 / 1 💬	13 drugs   [ 4 drugs ]	5 genes   63 pathways	(1) About 1,000 patients (2) 77 patients Age distribution💬
158	Tuberous sclerosis [Neu] 💬 "Tuberous sclerosis complex"	112 trials   49 / 40 / 55 / 17 💬	71 drugs   [ 19 drugs ]	35 genes   118 pathways	(1) About 4,000~12,000 patients (2) 925 patients Age distribution💬
159	Xeroderma pigmentosum [Neu] 💬 "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V"	11 trials   1 / 8 / 1 / 0 💬	17 drugs   [ 5 drugs ]	5 genes   15 pathways	(1) About 300~600 patients (2) 86 patients Age distribution💬
160	Congenital ichthyosis [Skin] 💬 "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Superficial epidermolytic ichthyosis", "Harlequin ichthyosis", "Autosomal recessive congenital 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"	42 trials   25 / 21 / 11 / 5 💬	71 drugs   [ 21 drugs ]	18 genes   112 pathways	(1) About 200 patients (2) 90 patients Age distribution💬
161	Familial benign chronic pemphigus [Skin] 💬 "Benign familial pemphigus", "Hailey-Hailey disease"	5 trials   2 / 2 / 0 / 0 💬	9 drugs   [ 4 drugs ]	2 genes   24 pathways	(1) About 300 patients (2) 57 patients Age distribution💬
162	Pemphigoid [Skin] 💬 "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid"	90 trials   24 / 43 / 30 / 8 💬	122 drugs   [ 47 drugs ]	34 genes   144 pathways	(1) About 7,100 patients (Pemphigoid: About 6,850 patients、Epidermolysis bullosa acquisita: About 250 patients) (2) 3,764 patients Age distribution💬
163	Idiopathic pure sudomotor failure [Skin] 💬 "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure"	-	-	-	(1) About 100 patients~200 patients (2) 551 patients Age distribution💬
164	Oculocutaneous albinism [Eye] 💬 "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism"	15 trials   3 / 9 / 1 / 0 💬	54 drugs   [ 34 drugs ]	35 genes   141 pathways	(1) About 5,000 patients (2,800~11,200 patients) (2) 28 patients Age distribution💬
165	Pachydermoperiostosis [Chr] 💬 "PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP"	-	-	-	(1) Less than 100 patients (2) 19 patients Age distribution💬
166	Pseudoxanthoma elasticum [Skin] 💬 "PXE"	16 trials   3 / 13 / 2 / 1 💬	27 drugs   [ 5 drugs ]	5 genes   28 pathways	(1) About 300 patients (2) 109 patients Age distribution💬
167	Marfan syndrome [Skin] 💬	21 trials   15 / 6 / 12 / 4 💬	40 drugs   [ 11 drugs ]	10 genes   50 pathways	(1) About 15,000~20,000 patients (2) 1,081 patients Age distribution💬
168	Ehlers-Danlos syndrome [Skin] 💬 "EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS"	13 trials   1 / 2 / 5 / 3 💬	21 drugs   [ 11 drugs ]	11 genes   103 pathways	(1) About 20,000 patients (2) 179 patients Age distribution💬
169	Menkes disease [Met] 💬	6 trials   2 / 2 / 1 / 0 💬	6 drugs   [ 4 drugs ]	9 genes   14 pathways	(1) Less than 100 patients (2) 1 patient Age distribution💬
170	Occipital horn syndrome [Skin] 💬	2 trials   1 / 1 / 1 / 0 💬	4 drugs   [ 3 drugs ]	9 genes   14 pathways	(1) Less than 100 patients (2) 1 patient Age distribution💬
171	Wilson disease [Met] 💬 "WD"	79 trials   42 / 24 / 32 / 15 💬	77 drugs   [ 17 drugs ]	6 genes   30 pathways	(1) About 3,000 patients (2) 715 patients Age distribution💬
172	Hypophosphatasia [Bone] 💬	34 trials   13 / 20 / 4 / 5 💬	17 drugs   [ 4 drugs ]	3 genes   6 pathways	(1) About 100~200 patients (2) 26 patients Age distribution💬
173	VATER syndrome [Chr] 💬 "VATER association", "VACTERL association"	-	-	-	(1) About 500 patients (2) 15 patients Age distribution💬
174	Nasu-Hakola disease [Chr] 💬 "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"	-	-	-	(1) About 200 patients (2) 4 patients Age distribution💬
175	Weaver syndrome [Chr] 💬	-	-	-	(1) Less than 100 patients (2) -
176	Coffin-Lowry syndrome [Chr] 💬	-	-	-	(1) One patient per tens of thousand population (2) 5 patients Age distribution💬
177	Joubert syndrome related disorder [Neu] 💬 "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   [ - ]	-	(1) Less than 100 patients (2) 11 patients Age distribution💬
178	Mowat-Wilson syndrome [Chr] 💬	-	-	-	(1) About 1,000 patients (2) 13 patients Age distribution💬
179	Williams syndrome [Chr] 💬	5 trials   0 / 0 / 0 / 1 💬	14 drugs   [ 7 drugs ]	8 genes   32 pathways	(1) Occurrence: One patient per twenty thousand population (2) 49 patients Age distribution💬
180	ATR-X syndrome [Chr] 💬 "Alpha-thalassemia mental retardation syndrome"	1 trial   0 / 1 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) Less than 100 patients (2) 7 patients Age distribution💬
181	Crouzon syndrome [Chr] 💬	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 19 patients Age distribution💬
182	Apert syndrome [Chr] 💬	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 6 patients Age distribution💬
183	Pfeiffer syndrome [Chr] 💬 "Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3"	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 6 patients Age distribution💬
184	Antley-Bixler syndrome [Chr] 💬	-	-	-	(1) [Disease ID 181-184 total] About 900 patients (2) 3 patients Age distribution💬
185	Coffin-Siris syndrome [Chr] 💬	-	-	-	(1) Less than 100 patients (2) 4 patients Age distribution💬
186	Rothmund-Thomson syndrome [Chr] 💬 "RAPADILINO syndrome", "Baller-Gerold syndrome"	-	-	-	(1) Less than 100 patients (2) 3 patients Age distribution💬
187	Kabuki syndrome [Chr] 💬	4 trials   1 / 0 / 0 / 0 💬	9 drugs   [ 2 drugs ]	2 genes   11 pathways	(1) About 3,000~4,000 patients (2) 14 patients Age distribution💬
188	Polysplenia syndrome [Chr] 💬	-	-	-	(1) [Disease ID 188-189 total] About 2,000 patients (2) 54 patients Age distribution💬
189	Asplenia syndrome [Chr] 💬	-	-	-	(1) [Disease ID 188-189 total] About 2,000 patients (2) 84 patients Age distribution💬
190	Branchio-oto-renal syndrome [Hear] 💬 "BOR syndrome"	-	-	-	(1) About 300 patients (2) 8 patients Age distribution💬
191	Werner syndrome [Chr] 💬	3 trials   2 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	-	(1) About 2,000 patients (2) 102 patients Age distribution💬
192	Cockayne syndrome [Chr] 💬 "CS"	4 trials   1 / 3 / 0 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   51 pathways	(1) Less than 100 patients (2) 5 patients Age distribution💬
193	Prader-Willi syndrome [Chr] 💬	113 trials   27 / 42 / 50 / 13 💬	111 drugs   [ 26 drugs ]	48 genes   102 pathways	(1) About 1,000 patients (2) 172 patients Age distribution💬
194	Sotos syndrome [Chr] 💬	-	-	-	(1) About 2,500 patients (2) 17 patients Age distribution💬
195	Noonan syndrome [Chr] 💬	25 trials   0 / 3 / 16 / 0 💬	23 drugs   [ 5 drugs ]	2 genes   9 pathways	(1) About 600 patients (2) 45 patients Age distribution💬
196	Young-Simpson syndrome [Chr] 💬	-	-	-	(1) About 100 patients (2) -
197	1p36 deletion syndrome [Chr] 💬	-	-	-	(1) About 100 patients (2) 8 patients Age distribution💬
198	4p deletion syndrome [Chr] 💬 "4p-syndrome"	-	-	-	(1) Less than about 1,000 patients (2) 7 patients Age distribution💬
199	5p deletion syndrome [Chr] 💬 "5p-syndrome"	-	-	-	(1) Less than about 1,000 patients (One per fifty thousand born, probably less than 1,000 patients estimated) (2) 6 patients Age distribution💬
200	Paternal uniparental disomy of chromosome 14 [Chr] 💬 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"	-	-	-	(1) Less than 100 patients (2) 6 patients Age distribution💬
201	Angelman syndrome [Neu] 💬	25 trials   9 / 8 / 5 / 0 💬	40 drugs   [ 11 drugs ]	22 genes   20 pathways	(1) 500~1,000 patients (2) 30 patients Age distribution💬
202	Smith-Magenis syndrome [Chr] 💬	9 trials   7 / 4 / 2 / 1 💬	10 drugs   [ 5 drugs ]	4 genes   7 pathways	(1) Less than 100 patients (2) 1 patient Age distribution💬
203	22q11.2 deletion syndrome [Chr] 💬	5 trials   2 / 1 / 1 / 0 💬	7 drugs   [ 1 drug ]	14 genes   23 pathways	(1) About 4,500 patients (2) 69 patients Age distribution💬
204	Emanuel syndrome [Chr] 💬 "Derivative 22 syndrome", "Partial trisomy (11", "22)"	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬
205	Fragile X syndrome related disease [Chr] 💬 "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome"	5 trials   0 / 2 / 1 / 0 💬	7 drugs   [ 5 drugs ]	22 genes   25 pathways	(1) [Disease ID 205-206 total] Less than 100 patients (2) 6 patients Age distribution💬
206	Fragile X syndrome [Chr] 💬	108 trials   35 / 49 / 16 / 8 💬	91 drugs   [ 36 drugs ]	52 genes   77 pathways	(1) [Disease ID 205-206 total] Less than 100 patients (2) 2 patients Age distribution💬
207	Persistent truncus arteriosus [Card] 💬 "Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV"	-	-	-	(1) About 500 patients (2) 32 patients Age distribution💬
208	Corrected transposition of great arteries [Card] 💬	-	-	-	(1) [Disease ID 208-209 total] About 900 patients (2) 186 patients Age distribution💬
209	Complete transposition of great vessel [Card] 💬 "Complete transposition of great arteries", "Complete TGA", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV"	-	-	-	(1) [Disease ID 208-209 total] About 900 patients (2) 244 patients Age distribution💬
210	Single Ventricle [Card] 💬 "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome"	51 trials   23 / 15 / 24 / 6 💬	53 drugs   [ 22 drugs ]	32 genes   67 pathways	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 425 patients Age distribution💬
211	Hypoplastic left heart syndrome [Card] 💬 "HLHS"	22 trials   10 / 11 / 1 / 0 💬	29 drugs   [ 9 drugs ]	5 genes   14 pathways	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 54 patients Age distribution💬
212	Tricuspid atresia [Card] 💬 "TA"	5 trials   2 / 2 / 0 / 0 💬	6 drugs   [ 6 drugs ]	8 genes   12 pathways	(1) [Disease ID 210-213 total] About 3,500 patients (Patients of single ventricle heart defects) (2) 183 patients Age distribution💬
213	Pulmonary atresia without ventricular septum defect [Card] 💬 "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) 140 patients Age distribution💬
214	Pulmonary atresia with ventricular septum defect [Card] 💬 "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with 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) 108 patients Age distribution💬
215	Tetralogy of Fallot [Card] 💬 "Fallot tetralogy"	18 trials   4 / 5 / 2 / 1 💬	26 drugs   [ 14 drugs ]	13 genes   45 pathways	(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases) (2) 689 patients Age distribution💬
216	Double outlet right ventricle [Card] 💬	-	-	-	(1) [Disease ID 214-216 total] About 5,500 patients (Patients of tetralogy of Fallot related diseases) (2) 256 patients Age distribution💬
217	Ebstein disease [Card] 💬 "Ebstein malformation"	-	-	-	(1) About 300 patients (2) 130 patients Age distribution💬
218	Alport syndrome [Kid] 💬 "X chromosome-linked Alport syndrome", "Autosomal recessive Alport syndrome"	30 trials   11 / 20 / 9 / 3 💬	36 drugs   [ 15 drugs ]	8 genes   46 pathways	(1) About 1,200 patients (2) 223 patients Age distribution💬
219	Galloway-Mowat syndrome [Kid] 💬	-	-	-	(1) About 200 patients (2) 1 patient Age distribution💬
220	Rapidly progressive glomerulonephritis [Kid] 💬	2 trials   0 / 1 / 2 / 0 💬	4 drugs   [ 2 drugs ]	1 gene   1 pathway	(1) About 3,800~5,800 patients in total estimated (2) 1,147 patients Age distribution💬
221	Anti-glomerular basement membrane disease [Kid] 💬	1 trial   0 / 1 / 0 / 0 💬	3 drugs   [ 1 drug ]	-	(1) About 200~400 patients (2) 343 patients Age distribution💬
222	Primary nephrotic syndrome [Kid] 💬 "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN"	310 trials   96 / 128 / 65 / 43 💬	295 drugs   [ 117 drugs ]	63 genes   194 pathways	(1) About 16,000 patients (2) 12,221 patients Age distribution💬
223	Primary membranoproliferative glomerulonephritis [Kid] 💬 "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Mesangial proliferative primary membranoproliferative glomerulonephritis type I", "Mesangial proliferative primary MPGN I", "Primary membranoproliferative glomerulonephritis type I, chronic / nest-like type", "Primary MPGN I, chronic / nest-like type", "Primary membranoproliferative glomerulonephritis type I, acute / nest-like type", "Primary MPGN I, acute / nest-like type", "Primary membranoproliferative glomerulonephritis type I, chronic / diffuse type", "Primary MPGN I, chronic / diffuse type", "Primary membranoproliferative glomerulonephritis type I, non-lobed type", "Primary MPGN I, non-lobed type", "Primary membranoproliferative glomerulonephritis type I, acute / diffuse type", "Primary MPGN I, acute / diffuse type", "Primary membranoproliferative glomerulonephritis type I, intraductal proliferation type", "Primary MPGN I, intraductal proliferation type", "Primary membranoproliferative glomerulonephritis type I, lobation type", "Primary MPGN I, lobation type", "Primary membranoproliferative glomerulonephritis type I, end-of-life type", "Primary MPGN I, end-of-life type"	-	-	-	(1) About 1,000 patients (2) 367 patients Age distribution💬
224	Purpura nephritis [Kid] 💬	16 trials   2 / 3 / 0 / 4 💬	43 drugs   [ 21 drugs ]	15 genes   58 pathways	(1) 400~640 cases / year (2) 1,023 patients Age distribution💬
225	Congenital nephrogenic diabetes insipidus [Kid] 💬 "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"	15 trials   7 / 5 / 1 / 3 💬	48 drugs   [ 18 drugs ]	31 genes   65 pathways	(1) About 200 patients (2) 45 patients Age distribution💬
226	Interstitial cystitis with Hunners ulcer [Kid] 💬 "Interstitial cystitis"	145 trials   48 / 58 / 27 / 17 💬	156 drugs   [ 51 drugs ]	64 genes   146 pathways	(1) About 2,000 patients (2) 885 patients Age distribution💬
227	Osler disease [Chr] 💬 "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"	56 trials   22 / 31 / 14 / 5 💬	72 drugs   [ 21 drugs ]	23 genes   136 pathways	(1) About 10,000 patients (2) 837 patients Age distribution💬
228	Bronchiolitis obliterans [Resp] 💬 "Obliterating bronchiolitis"	97 trials   49 / 40 / 36 / 16 💬	118 drugs   [ 32 drugs ]	33 genes   156 pathways	(1) About 300~500 patients (2) 35 patients Age distribution💬
229	Autoimmune pulmonary alveolar proteinosis [Resp] 💬 "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Autoimmune PAP", "Congenital PAP"	44 trials   31 / 21 / 27 / 5 💬	22 drugs   [ 7 drugs ]	3 genes   14 pathways	(1) About 900 patients (Autoimmune and congenital pulmonary alveolar proteinoses) (2) 212 patients Age distribution💬
230	Alveolar hypoventilation syndrome [Resp] 💬 "AHS", "Hypoventilation syndrome", "Obesity hypoventilation syndrome", "OHS", "Congenital central hypoventilation syndrome", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH"	6 trials   0 / 2 / 2 / 0 💬	7 drugs   [ 4 drugs ]	16 genes   26 pathways	(1) About 3,000 patients (2) 145 patients Age distribution💬
231	Alpha-1-antitrypsin deficiency [Resp] 💬 "AATD"	93 trials   47 / 59 / 29 / 8 💬	77 drugs   [ 8 drugs ]	10 genes   36 pathways	(1) Less than 100 patients (2) 16 patients Age distribution💬
232	Carney complex [Chr] 💬	2 trials   0 / 1 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   29 pathways	(1) Less than 100 patients (2) 23 patients Age distribution💬
233	Wolfram syndrome [Endo] 💬 "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome"	11 trials   6 / 10 / 2 / 1 💬	17 drugs   [ 8 drugs ]	12 genes   41 pathways	(1) About 200 patients (2) 12 patients Age distribution💬
234	Peroxisomal disease (except Adrenoleukodystrophy) [Met] 💬 "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Infantile Refsum disease", "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", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Refsum disease", "Primary hyperoxaluria type 1", "PH1", "Acatalasemia", "Acatalasia", "Takahara disease", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS"	39 trials   30 / 21 / 18 / 5 💬	35 drugs   [ 12 drugs ]	13 genes   45 pathways	(1) Less than 100 patients (2) -
235	Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease"	88 trials   16 / 20 / 38 / 18 💬	107 drugs   [ 24 drugs ]	5 genes   7 pathways	(1) About 900 patients (2) 302 patients Age distribution💬
236	Pseudohypoparathyroidism [Endo] 💬 "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"	3 trials   0 / 2 / 0 / 0 💬	3 drugs   [ 2 drugs ]	18 genes   23 pathways	(1) About 400 patients (2) 116 patients Age distribution💬
237	ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"	-	-	-	(1) Less than 100 patients (2) 14 patients Age distribution💬
238	Vitamin D-resistant rickets [Bone] 💬 "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO"	28 trials   5 / 5 / 8 / 4 💬	20 drugs   [ 9 drugs ]	3 genes   16 pathways	(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) 396 patients Age distribution💬
239	Vitamin D-dependent rickets [Endo] 💬 "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2"	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬
240	Phenylketonuria [Met] 💬 "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"	143 trials   79 / 31 / 43 / 26 💬	90 drugs   [ 10 drugs ]	1 gene   5 pathways	(1) About 500 patients (2) 264 patients Age distribution💬
241	Hypertyrosinemia type I [Met] 💬 "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency", "Acute hypertyrosinemia type I", "Acute tyrosinemia type I", "Acute tyrosinemia I", "Subacute hypertyrosinemia type I", "Subacute tyrosinemia type I", "Subacute tyrosinemia I", "Chronic hypertyrosinemia type I", "Chronic tyrosinemia type I", "Chronic tyrosinemia I"	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💬
242	Hypertyrosinemia type II [Met] 💬 "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II", "Acute hypertyrosinemia type II", "Acute tyrosinemia type II", "Acute tyrosinemia II", "Subacute hypertyrosinemia type II", "Subacute tyrosinemia type II", "Subacute tyrosinemia II", "Chronic hypertyrosinemia type II", "Chronic tyrosinemia type II", "Chronic tyrosinemia II"	-	-	-	(1) [Disease ID 241-243 total] Less than 100 patients (2) -
243	Hypertyrosinemia type III [Met] 💬 "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III", "Acute hypertyrosinemia type III", "Acute tyrosinemia type III", "Acute tyrosinemia III", "Subacute hypertyrosinemia type III", "Subacute tyrosinemia type III", "Subacute tyrosinemia III", "Chronic hypertyrosinemia type III", "Chronic tyrosinemia type III", "Chronic tyrosinemia III"	-	-	-	(1) [Disease ID 241-243 total] Less than 100 patients (2) 1 patient Age distribution💬
244	Maple syrup urine disease [Met] 💬 "MSUD"	1 trial   0 / 1 / 1 / 0 💬	1 drug   [ 1 drug ]	-	(1) About 100 patients (2) 13 patients Age distribution💬
245	Propionic acidemia [Met] 💬	13 trials   5 / 7 / 1 / 0 💬	16 drugs   [ 3 drugs ]	1 gene   6 pathways	(1) About 300 patients (2) 15 patients Age distribution💬
246	Methylmalonic acidemia [Met] 💬	23 trials   13 / 15 / 2 / 2 💬	31 drugs   [ 8 drugs ]	17 genes   23 pathways	(1) About 300 patients (2) 30 patients Age distribution💬
247	Isovaleric acidemia [Met] 💬 "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"	-	-	-	(1) Less than 100 patients (2) 3 patients Age distribution💬
248	Glucose transporter type 1 deficiency [Met] 💬 "GLUT1 deficiency"	29 trials   43 / 20 / 9 / 8 💬	9 drugs   [ 1 drug ]	-	(1) Less than 100 patients (2) 14 patients Age distribution💬
249	Glutaric acidemia type 1 [Met] 💬	-	-	-	(1) Less than 100 patients (2) 4 patients Age distribution💬
250	Glutaric acidemia type 2 [Met] 💬 "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD", "Glutaric acidemia type 2, neonatal onset type", "Multiple acyl-CoA dehydrogenase deficiency, neonatal onset type", "Multiple acyl-CoA dehydrogenation deficiency, neonatal onset type", "MADD, neonatal onset type", "Glutaric acidemia type 2, infant/school child onset type", "Multiple acyl-CoA dehydrogenase deficiency, infant/school child onset type", "Multiple acyl-CoA dehydrogenation deficiency, infant/school child onset type", "MADD, infant/school child onset type", "Glutaric acidemia type 2, adult-onset type", "Multiple acyl-CoA dehydrogenase deficiency, adult-onset type", "Multiple acyl-CoA dehydrogenation deficiency, adult-onset type", "MADD, adult-onset type"	-	-	-	(1) Less than 100 patients (2) 7 patients Age distribution💬
251	Urea cycle disorder [Met] 💬 "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"	54 trials   31 / 31 / 6 / 5 💬	61 drugs   [ 15 drugs ]	3 genes   28 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) 92 patients Age distribution💬
252	Lysinuric protein intolerance [Met] 💬	-	-	-	(1) Less than 100 patients (2) 27 patients Age distribution💬
253	Congenital folate malabsorption [Met] 💬 "Hereditary folate malabsorption", "Folate malabsorption"	-	-	-	(1) Less than 100 patients (2) -
254	Porphyria [Met] 💬 "Acute intermittent porphyria", "AIP", "Hereditary coproporphyria", "HCP", "Variegate porphyria", "VP", "Erythropoietic protoporphyria", "EPP", "Porphyria cutanea tarda", "PCT", "Congenital erythropoietic porphyria", "CEP", "X-linked dominant protoporphyria", "XLDP", "Hepatoerythropoietic porphyria", "HEP"	72 trials   19 / 17 / 38 / 3 💬	53 drugs   [ 16 drugs ]	19 genes   35 pathways	(1) About 200 patients (2) 47 patients Age distribution💬
255	Multiple carboxylase deficiency [Met] 💬 "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) 6 patients Age distribution💬
256	Muscle glycogenosis [Met] 💬 "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", "Forbes 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 IXd", "GSDIXd", "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"	180 trials   81 / 57 / 68 / 34 💬	133 drugs   [ 29 drugs ]	25 genes   105 pathways	(1) About 3,000~6,000 patients estimated (2) 22 patients Age distribution💬
257	Hepatic glycogenosis [Met] 💬 "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", "Forbes 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"	14 trials   4 / 7 / 0 / 0 💬	27 drugs   [ 7 drugs ]	3 genes   8 pathways	(1) About 1,200 patients (2) 101 patients Age distribution💬
258	Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬 "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"	-	-	-	(1) Less than 100 patients (2) 2 patients Age distribution💬
259	Lecithin-cholesterol acyltransferase deficiency [Met] 💬 "LCAT deficiency", "Classical lecithin-cholesterol acyltransferase deficiency", "Classical LCAT deficiency", "Partial lecithin-cholesterol acyltransferase deficiency", "Partial LCAT deficiency", "Fish-eye disease"	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	(1) Less than 100 patients (2) 4 patients Age distribution💬
260	Sitosterolemia [Met] 💬	12 trials   0 / 1 / 5 / 0 💬	11 drugs   [ 3 drugs ]	1 gene   1 pathway	(1) Less than 100 patients (2) 24 patients Age distribution💬
261	Tangier disease [Met] 💬	-	-	-	(1) Less than 100 patients (2) 9 patients Age distribution💬
262	Primary hyperchylomicronemia [Met] 💬	-	-	-	(1) About 300 patients (2) 46 patients Age distribution💬
263	Cerebrotendinous xanthomatosis [Met] 💬 "27-hydroxylase deficiency", "CYP27 deficiency"	6 trials   0 / 1 / 2 / 0 💬	11 drugs   [ 2 drugs ]	2 genes   4 pathways	(1) Less than 100 patients (2) 48 patients Age distribution💬
264	Abetalipoproteinemia [Met] 💬 "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) 4 patients Age distribution💬
265	Lipodystrophy [Met] 💬 "Generalized congenital lipodystrophy", "Berardinelli-Seip syndrome", "Familial partial lipodystrophy", "Dunnigan-type familial partial lipodystrophy", "Kobbering-type familial partial lipodystrophy", "Acquired generalized lipodystrophy", "Lawrence syndrome", "Partial acquired lipodystrophy", "Barraquer-Simons syndrome"	112 trials   33 / 34 / 20 / 30 💬	155 drugs   [ 55 drugs ]	25 genes   97 pathways	(1) About 100 patients (2) 33 patients Age distribution💬
266	Familial mediterranean fever [Imm] 💬	28 trials   1 / 9 / 10 / 1 💬	22 drugs   [ 5 drugs ]	14 genes   59 pathways	(1) About 300 patients (2) 530 patients Age distribution💬
267	Hyper-IgD syndrome [Imm] 💬 "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome"	11 trials   0 / 2 / 9 / 0 💬	6 drugs   [ 1 drug ]	1 gene   44 pathways	(1) Less than 100 patients (2) 2 patients Age distribution💬
268	Nakajo-Nishimura syndrome [Imm] 💬 "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"	-	-	-	(1) Less than 100 patients (2) 7 patients Age distribution💬
269	Pyogenic arthritis [Imm] 💬 "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome"	23 trials   7 / 14 / 7 / 2 💬	30 drugs   [ 12 drugs ]	15 genes   106 pathways	(1) Less than 100 patients (2) 7 patients Age distribution💬
270	Chronic recurrent multifocal osteomyelitis [Bone] 💬	1 trial   0 / 0 / 0 / 0 💬	10 drugs   [ 9 drugs ]	6 genes   73 pathways	(1) Less than 100 patients (2) 102 patients Age distribution💬
271	Ankylosing spondylitis [Bone] 💬 "Spondylarthritis ankylopoietica"	574 trials   236 / 145 / 234 / 113 💬	359 drugs   [ 68 drugs ]	41 genes   146 pathways	(1) About 4,500 patients (2) 4,552 patients Age distribution💬
272	Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP"	39 trials   17 / 26 / 15 / 3 💬	38 drugs   [ 7 drugs ]	27 genes   95 pathways	(1) Less than 100 patients (2) 25 patients Age distribution💬
273	Congenital scoliosis with rib anomaly [Bone] 💬 "Congenital scoliosis"	-	-	-	(1) Less than about 2,000 patients (Children under 11) (2) 21 patients Age distribution💬
274	Osteogenesis Imperfecta [Bone] 💬	91 trials   24 / 23 / 32 / 11 💬	101 drugs   [ 20 drugs ]	11 genes   48 pathways	(1) About 6,000 patients (2) 121 patients Age distribution💬
275	Thanatophoric dysplasia [Bone] 💬	-	-	-	(1) Less than 100 patients (2) 5 patients Age distribution💬
276	Achondroplasia [Bone] 💬	51 trials   27 / 39 / 13 / 6 💬	34 drugs   [ 6 drugs ]	4 genes   26 pathways	(1) 6,000 patients nationwide (estimated by frequency of occurrence) (2) 88 patients Age distribution💬
277	Lymphangiomatosis [Resp] 💬 "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis"	6 trials   2 / 2 / 1 / 0 💬	2 drugs   [ 2 drugs ]	1 gene   51 pathways	(1) About 100 patients (estimated by the national survey of the research group) (2) 56 patients Age distribution💬
278	Huge lymphatic malformation with cervicofacial lesion [Resp] 💬 "Huge lymphatic malformation", "Lymphatic malformation"	19 trials   12 / 10 / 4 / 4 💬	22 drugs   [ 7 drugs ]	5 genes   63 pathways	(1) About 600 patients (2) 17 patients Age distribution💬
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion [Card] 💬 oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation"	15 trials   1 / 7 / 1 / 2 💬	24 drugs   [ 10 drugs ]	3 genes   105 pathways	(1) About 200 patients (2) 47 patients Age distribution💬
280	Huge arteriovenous malformation with cervicofacial or limb lesion [Card] 💬 "Huge arteriovenous malformation", "Arteriovenous malformation"	27 trials   14 / 7 / 2 / 6 💬	30 drugs   [ 15 drugs ]	14 genes   153 pathways	(1) About 700 patients (2) 104 patients Age distribution💬
281	Klippel-Trenaunay-Weber syndrome [Card] 💬 "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS"	2 trials   0 / 0 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   51 pathways	(1) About 3,000 patients (2) 239 patients Age distribution💬
282	Congenital dyserythropoietic anemia [Hem] 💬 "CDA"	1 trial   0 / 0 / 0 / 1 💬	1 drug   [ 1 drug ]	2 genes   4 pathways	(1) Less than 100 patients (2) 11 patients Age distribution💬
283	Acquired pure red cell aplasia [Hem] 💬 "Pure red cell aplasia"	19 trials   7 / 13 / 2 / 5 💬	36 drugs   [ 23 drugs ]	20 genes   102 pathways	(1) Incidence per year: 0.3 patients per one million population (2) 829 patients Age distribution💬
284	Diamond-Blackfan anemia [Hem] 💬	36 trials   18 / 25 / 4 / 2 💬	95 drugs   [ 34 drugs ]	23 genes   126 pathways	(1) About 200 patients (2) 23 patients Age distribution💬
285	Fanconi anemia [Hem] 💬	62 trials   27 / 37 / 3 / 1 💬	93 drugs   [ 30 drugs ]	30 genes   144 pathways	(1) About 200 patients (2) 13 patients Age distribution💬
286	Hereditary sideroblastic anemia [Hem] 💬 "Congenital sideroblastic anemia", "Sideroblastic anemia"	7 trials   5 / 2 / 1 / 1 💬	20 drugs   [ 10 drugs ]	8 genes   43 pathways	(1) Less than 100 patients (2) 13 patients Age distribution💬
287	Epstein syndrome [Chr] 💬	-	-	-	(1) About 200 patients (2) 12 patients Age distribution💬
288	Autoimmune acquired coagulation factor deficiency [Imm] 💬 "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency"	206 trials   44 / 31 / 95 / 28 💬	231 drugs   [ 28 drugs ]	10 genes   21 pathways	(1) About 700 patients (2) 414 patients Age distribution💬
289	Cronkhite-Canada syndrome [Gast] 💬	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	(1) About 500 patients (2) 189 patients Age distribution💬
290	Chronic nonspecific multiple ulcers of the small intestine [Gast] 💬 "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) 88 patients Age distribution💬
291	Hirschsprung disease, entire colon type [Gast] 💬 entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis"	12 trials   0 / 1 / 2 / 1 💬	24 drugs   [ 15 drugs ]	-	(1) About 10,000 patients (Among them, entire colon type and small intestine type: About 1,000 patients) (2) 19 patients Age distribution💬
292	Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure"	-	-	-	(1) About 300 patients (2) 16 patients Age distribution💬
293	Persistent cloaca [Gast] 💬	-	-	-	(1) About 600 patients (2) 42 patients Age distribution💬
294	Congenital diaphragmatic hernia [Resp] 💬	16 trials   6 / 4 / 6 / 3 💬	26 drugs   [ 5 drugs ]	5 genes   14 pathways	(1) About 5,000 patients (2) 13 patients Age distribution💬
295	Infant huge hepatic hemangioma [Gast] 💬 "Infant giant liver hemangioma"	-	-	-	(1) Less than 100 patients (2) -
296	Biliary atresia [Gast] 💬	71 trials   6 / 19 / 12 / 5 💬	70 drugs   [ 39 drugs ]	35 genes   60 pathways	(1) About 3,500 patients (2) 422 patients Age distribution💬
297	Alagille syndrome [Chr] 💬	45 trials   7 / 21 / 16 / 2 💬	21 drugs   [ 10 drugs ]	3 genes   5 pathways	(1) About 200~300 patients (2) 41 patients Age distribution💬
298	Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis"	95 trials   23 / 25 / 17 / 7 💬	148 drugs   [ 51 drugs ]	53 genes   142 pathways	(1) About 300~400 patients (2) 31 patients Age distribution💬
299	Cystic fibrosis [Gast] 💬	1,695 trials   668 / 515 / 636 / 214 💬	1,527 drugs   [ 268 drugs ]	111 genes   174 pathways	(1) Less than 100 patients (2) 12 patients Age distribution💬
300	IgG4-related disease [Imm] 💬 "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease"	40 trials   4 / 8 / 15 / 5 💬	47 drugs   [ 21 drugs ]	18 genes   141 pathways	(1) About 8,000 patients (2) 3,371 patients Age distribution💬
301	Macular dystrophy [Eye] 💬 "Vitelliform macular dystrophy", "Best vitelliform macular dystrophy", "Best disease", "Stargardt disease", "Occult macular dystrophy", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy"	46 trials   21 / 28 / 8 / 1 💬	42 drugs   [ 11 drugs ]	9 genes   67 pathways	(1) 1,000 patients (2) 217 patients Age distribution💬
302	Leber hereditary optic neuropathy [Eye] 💬	23 trials   29 / 12 / 15 / 6 💬	15 drugs   [ 5 drugs ]	5 genes   33 pathways	(1) Estimated number of new occurrences per year: 117 patients (2) 126 patients Age distribution💬
303	Usher syndrome [Eye] 💬 [Ear] 💬	10 trials   6 / 10 / 2 / 0 💬	11 drugs   [ - ]	-	(1) About 8,160 patients (2) 20 patients Age distribution💬
304	Juvenile-onset bilateral sensorineural hearing loss [Ear] 💬	-	-	-	(1) About 4,000 patients (2) 42 patients Age distribution💬
305	Delayed endolymphatic hydrops [Ear] 💬	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	(1) About 4,000~5,000 patients (2) 27 patients Age distribution💬
306	Eosinophilic sinusitis [Imm] 💬 [Ear] 💬	-	-	-	(1) About 20,000 patients (2) 17,525 patients Age distribution💬
307	Canavan disease [Neu] 💬	6 trials   3 / 3 / 0 / 0 💬	11 drugs   [ 5 drugs ]	2 genes   2 pathways	(1) A few patients (2) 1 patient Age distribution💬
308	Progressive leukoencephalopathy [Neu] 💬 "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"	-	-	-	(1) Less than 100 patients (2) 20 patients Age distribution💬
309	Progressive myoclonus epilepsy [Neu] 💬 "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME"	11 trials   0 / 0 / 6 / 0 💬	15 drugs   [ 2 drugs ]	4 genes   9 pathways	(1) About 3,000 patients (2) 41 patients Age distribution💬
310	Congenital anomalies syndrome [Chr] 💬 "Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"	11 trials   2 / 7 / 0 / 0 💬	20 drugs   [ 10 drugs ]	3 genes   7 pathways	(1) About 4,000 patients (2) 30 patients Age distribution💬
311	Congenital tricuspid stenosis [Card] 💬	-	-	-	(1) About 500 patients (2) 3 patients Age distribution💬
312	Congenital mitral stenosis [Card] 💬	-	-	-	(1) About 100 patients (2) 12 patients Age distribution💬
313	Congenital pulmonary vein stenosis [Card] 💬	-	-	-	(1) About 80 patients (2) 1 patient Age distribution💬
314	Vascular sling [Card] 💬	-	-	-	(1) About 600 patients (2) 2 patients Age distribution💬
315	Nail-Patella syndrome [Kid] 💬 "LMX1B-associated nephropathy"	-	-	-	(1) About 500 patients (2) 7 patients Age distribution💬
316	Carnitine cycle disorder [Met] 💬 "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   11 pathways	(1) About 960 patients (2) 19 patients Age distribution💬
317	Trifunctional protein deficiency [Met] 💬 "TFP deficiency", "Trifunctional protein deficiency, neonatal onset", "TFP deficiency, neonatal onset", "Trifunctional protein deficiency, infant onset", "TFP deficiency, infant onset", "Trifunctional protein deficiency, delayed onset", "TFP deficiency, delayed onset", "Trifunctional protein deficiency, pre onset", "TFP deficiency, pre onset"	4 trials   1 / 0 / 0 / 0 💬	9 drugs   [ 4 drugs ]	1 gene   1 pathway	(1) Less than 100 patients (2) 4 patients Age distribution💬
318	Citrin deficiency [Met] 💬 "Neonatal intrahepatic cholestasis caused by 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) 62 patients Age distribution💬
319	Sepiapterin reductase deficiency [Met] 💬	-	-	-	(1) Less than 100 patients (About one patient) (2) 2 patients Age distribution💬
320	Inherited glycosylphosphatidylinositol deficiency [Neu] 💬 "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency"	3 trials   0 / 0 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	(1) Less than 100 patients (2) -
321	Non-ketotic hyperglycinemia [Met] 💬 "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH"	1 trial   0 / 0 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	(1) Less than 100 patients (2) 2 patients Age distribution💬
322	Beta-ketothiolase deficiency [Met] 💬	-	-	-	(1) Less than 100 patients (2) -
323	Aromatic L-amino acid decarboxylase deficiency [Met] 💬	-	-	-	(1) Less than 100 patients (About 10 cases) (2) 4 patients Age distribution💬
324	Methylglutaconic aciduria [Met] 💬 "3-methylglutaconyl-CoA hydratase deficiency", "3-methylglutaconic aciduria", "3-MGA", "3-MGA type I", "Barth syndrome", "3-MGA type II", "Costeff syndrome", "3-MGA type III", "Mitochondrial respiratory chain disorder", "3-MGA type IV", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome", "3-MGA type V"	4 trials   5 / 2 / 2 / 1 💬	4 drugs   [ 3 drugs ]	1 gene   10 pathways	(1) Less than 100 patients (2) 1 patient Age distribution💬
325	Hereditary autoinflammatory syndrome [Imm] 💬 "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20"	5 trials   1 / 4 / 0 / 0 💬	11 drugs   [ 6 drugs ]	2 genes   35 pathways	(1) Less than 100 patients (Adult patients reported in all cases) (2) 13 patients Age distribution💬
326	Osteopetrosis [Met] 💬 "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis"	18 trials   4 / 12 / 4 / 0 💬	43 drugs   [ 14 drugs ]	17 genes   82 pathways	(1) About 100 patients (2) 23 patients Age distribution💬
327	Idiopathic thrombosis [Hem] 💬	-	-	-	(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) 205 patients Age distribution💬
328	Anterior segment dysgenesis [Eye] 💬 "ASD"	-	-	-	(1) About 6,000 patients (2) 13 patients Age distribution💬
329	Aniridia [Eye] 💬	3 trials   0 / 2 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	(1) About 1,200 patients (2) 120 patients Age distribution💬
330	Congenital tracheal stenosis [Resp] 💬 "Congenital subglottic stenosis"	1 trial   0 / 1 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	(1) About 1,000 patients (2) 41 patients Age distribution💬
331	Idiopathic multicentric castleman disease [Hem] 💬 "iMCD", "Castleman disease"	33 trials   15 / 24 / 2 / 4 💬	41 drugs   [ 21 drugs ]	22 genes   123 pathways	(1) About 1,500 patients (2) 1,526 patients Age distribution💬
332	Gelatinous drop-like corneal dystrophy [Eye] 💬	-	-	-	(1) About 400 patients (2) 4 patients Age distribution💬
333	Hutchinson-Gilford syndrome [Chr] 💬 "Hutchinson-Gilford progeria syndrome", "HGPS"	8 trials   2 / 5 / 0 / 0 💬	8 drugs   [ 3 drugs ]	4 genes   6 pathways	(1) Less than 100 patients (2) -
334	Cerebral creatine deficiency syndrome [Neu] 💬 "CCDS"	-	-	-	(1) Less than 100 patients (2) -
335	Nephronophthisis [Kid] 💬 "NPHP", "NPH"	1 trial   0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	(1) About 130-220 patients (2) 3 patients Age distribution💬
336	Familial hypobetalipoproteinemia 1 [Met] 💬 "FHBL1"	-	-	-	(1) Several families only (2) -
337	Homocystinuria [Met] 💬 "Homocystinuria type I", "Cystathionine beta-synthase deficiency", "CBS deficiency", "Homocystinuria type II", "Homocystinuria cblC type", "Cobalamin C deficiency", "cblC deficiency", "Homocystinuria type III", "Methylenetetrahydrofolate reductase deficiency", "MTHFR deficiency"	16 trials   6 / 9 / 0 / 1 💬	19 drugs   [ 7 drugs ]	2 genes   23 pathways	(1) Type I (CBS deficiency): About 200 patients; Type II: Less than 100 patients; Type III: Less than 100 patients (2) 11 patients Age distribution💬
338	Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC"	60 trials   27 / 18 / 40 / 5 💬	26 drugs   [ 6 drugs ]	2 genes   2 pathways	(1) About 100 patients (2) 2 patients Age distribution💬