Disease The intractable diseases designated by MHLW, Japan

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 Med expenses recipients (FY2022)
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	1,697 patients Age distribution💬
2	Amyotrophic lateral sclerosis [Neu] 💬 "ALS"	645 trials    | 227 / 290 / 231 / 26 💬	589 drugs   [ 163 drugs ]	150 genes   225 pathways	9,765 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	955 patients Age distribution💬
4	Primary lateral sclerosis [Neu] 💬 "PLS"	5 trials    | 2 / 2 / 0 / 1 💬	13 drugs   [ 6 drugs ]	13 genes   25 pathways	146 patients Age distribution💬
5	Progressive supranuclear palsy [Neu] 💬 "PSP"	89 trials    | 45 / 42 / 9 / 6 💬	107 drugs   [ 40 drugs ]	65 genes   108 pathways	12,830 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	143,267 patients Age distribution💬
7	Corticobasal degeneration [Neu] 💬 "Corticobasal syndrome", "CBD"	16 trials    | 5 / 3 / 1 / 0 💬	28 drugs   [ 13 drugs ]	9 genes   38 pathways	4,428 patients Age distribution💬
8	Huntington disease [Neu] 💬 "Huntington chorea"	242 trials    | 111 / 134 / 50 / 13 💬	205 drugs   [ 62 drugs ]	85 genes   159 pathways	892 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"	-	-	-	36 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	845 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	26,387 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	12 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	23,105 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	5,291 patients Age distribution💬
15	Inclusion body myositis [Neu] 💬	42 trials    | 31 / 19 / 25 / 5 💬	33 drugs   [ 11 drugs ]	12 genes   123 pathways	847 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	252 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	10,808 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	26,476 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	1,672 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	253 patients Age distribution💬
21	Mitochondrial disease [Met] 💬	39 trials    | 7 / 21 / 15 / 2 💬	42 drugs   [ 32 drugs ]	47 genes   67 pathways	1,630 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	13,544 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 ]	-	464 patients Age distribution💬
24	Subacute sclerosing panencephalitis [Neu] 💬 "SSPE"	-	-	-	58 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	77 patients Age distribution💬
26	HTLV-1-associated myelopathy [Neu] 💬 "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy", "HAM"	29 trials    | 10 / 15 / 10 / 0 💬	47 drugs   [ 29 drugs ]	34 genes   119 pathways	1,016 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 ]	-	123 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	5,587 patients Age distribution💬
29	Ullrich disease [Neu] 💬 "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"	-	-	-	19 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	315 patients Age distribution💬
31	Bethlem myopathy [Neu] 💬 "Beth Rem myopathy"	-	-	-	21 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   [ - ]	-	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 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	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	3,176 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	291 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	2,132 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	171 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	71 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	4,642 patients Age distribution💬
41	Giant cell arteritis [Imm] 💬 "Temporal arteritis"	131 trials    | 60 / 42 / 79 / 15 💬	139 drugs   [ 36 drugs ]	33 genes   125 pathways	2,453 patients Age distribution💬
42	Polyarteritis nodosa [Imm] 💬 "PAN"	15 trials    | 0 / 6 / 6 / 2 💬	26 drugs   [ 16 drugs ]	26 genes   105 pathways	2,143 patients Age distribution💬
43	Microscopic polyangiitis [Imm] 💬 "MPA"	88 trials    | 61 / 44 / 42 / 21 💬	81 drugs   [ 21 drugs ]	15 genes   90 pathways	11,078 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	3,437 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	6,723 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	4,966 patients Age distribution💬
47	Buerger disease [Card] 💬 "Thromboangiitis obliterans"	9 trials    | 0 / 3 / 1 / 0 💬	14 drugs   [ 7 drugs ]	5 genes   16 pathways	1,609 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	1,019 patients Age distribution💬
49	Systemic lupus erythematosus [Imm] 💬 "SLE"	993 trials    | 415 / 404 / 286 / 118 💬	702 drugs   [ 184 drugs ]	116 genes   200 pathways	65,145 patients Age distribution💬
50	Dermatomyositis [Imm] 💬 "Polymyositis"	194 trials    | 54 / 83 / 61 / 17 💬	244 drugs   [ 89 drugs ]	50 genes   151 pathways	26,046 patients Age distribution💬
51	Scleroderma [Imm] 💬 "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	27,013 patients Age distribution💬
52	Mixed connective tissue disease [Imm] 💬	8 trials    | 0 / 5 / 1 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   1 pathway	10,099 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	19,290 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	4,458 patients Age distribution💬
55	Relapsing polychondritis [Imm] 💬	8 trials    | 1 / 4 / 0 / 0 💬	10 drugs   [ 9 drugs ]	12 genes   101 pathways	993 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	15,157 patients Age distribution💬
57	Idiopathic dilated cardiomyopathy [Card] 💬	11 trials    | 3 / 6 / 1 / 3 💬	23 drugs   [ 12 drugs ]	9 genes   35 pathways	18,234 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	4,318 patients Age distribution💬
59	Restricted cardiomyopathy [Card] 💬 "Restrictive cardiomyopathy", "Constrictive cardiomyopathy"	-	-	-	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	8,302 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	1,278 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	1,035 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	16,599 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	385 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	2,062 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	13,354 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	12,790 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	6,092 patients Age distribution💬
69	Ossification of posterior longitudinal ligament [Bone] 💬	2 trials    | 0 / 0 / 0 / 0 💬	2 drugs   [ 3 drugs ]	-	31,571 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	4,874 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	19,256 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	3,869 patients Age distribution💬
73	TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism"	1 trial    | 0 / 0 / 1 / 0 💬	3 drugs   [ 2 drugs ]	-	200 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	2,206 patients Age distribution💬
75	Cushing disease [Endo] 💬 "Cushing"	205 trials    | 126 / 86 / 92 / 38 💬	176 drugs   [ 45 drugs ]	61 genes   127 pathways	960 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	37 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	4,348 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	19,693 patients Age distribution💬
79	Homozygous familial hypercholesterolemia [Met] 💬	145 trials    | 51 / 42 / 94 / 10 💬	114 drugs   [ 26 drugs ]	8 genes   17 pathways	398 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	46 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	1,014 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"	-	-	-	55 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	346 patients Age distribution💬
84	Sarcoidosis [Resp] 💬	149 trials    | 52 / 70 / 31 / 25 💬	202 drugs   [ 78 drugs ]	66 genes   169 pathways	15,627 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	18,399 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	4,529 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	25 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	5,230 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	928 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	21,263 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	211 patients Age distribution💬
92	Idiopathic portal hypertension [Gast] 💬 "Banti syndrome"	-	-	-	313 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	16,625 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	1,106 patients Age distribution💬
95	Autoimmune hepatitis [Gast] 💬	52 trials    | 11 / 25 / 11 / 11 💬	68 drugs   [ 27 drugs ]	18 genes   111 pathways	7,081 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	50,184 patients Age distribution💬
97	Ulcerative colitis [Gast] 💬	2,630 trials    | 943 / 957 / 1089 / 298 💬	1,459 drugs   [ 265 drugs ]	144 genes   202 pathways	141,387 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	1,280 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	182 patients Age distribution💬
100	Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬 "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"	-	-	-	2 patients Age distribution💬
101	Congenital isolated hypoganglionosis [Gast] 💬 "Intestinal ganglion cells insignificant disease"	-	-	-	16 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	7 patients Age distribution💬
103	Cardio-facio-cutaneous syndrome [Chr] 💬 "CFC syndrome"	-	-	-	8 patients Age distribution💬
104	Costello syndrome [Chr] 💬	-	-	-	9 patients Age distribution💬
105	CHARGE syndrome [Chr] 💬	-	-	-	34 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	88 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	1,060 patients Age distribution💬
108	TNF receptor-associated periodic syndrome [Imm] 💬	4 trials    | 5 / 1 / 2 / 1 💬	7 drugs   [ 1 drug ]	1 gene   44 pathways	35 patients Age distribution💬
109	Atypical hemolytic uremic syndrome [Kid] 💬 "aHUS"	114 trials    | 75 / 41 / 54 / 18 💬	36 drugs   [ 7 drugs ]	3 genes   11 pathways	81 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"	-	-	-	21 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	377 patients Age distribution💬
112	Marinesco-Sjogren syndrome [Neu] 💬 "Hereditary cerebellar ataxia-childhood cataracts"	-	-	-	4 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	5,444 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	29 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	66 patients Age distribution💬
116	Atopic myelitis [Neu] 💬 "Idiopathic eosinophilic myelitis"	-	-	-	54 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 ]	-	623 patients Age distribution💬
118	Myelomeningocele [Neu] 💬 "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"	5 trials    | 1 / 1 / 0 / 1 💬	7 drugs   [ 4 drugs ]	2 genes   10 pathways	137 patients Age distribution💬
119	Isaacs syndrome [Neu] 💬 "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"	-	-	-	117 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	129 patients Age distribution💬
121	Neuroferritinopathy [Neu] 💬	-	-	-	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 ]	-	227 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"	-	-	-	6 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	223 patients Age distribution💬
125	Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬 "HDLS", "Hereditary diffuse leukoencephalopathy"	1 trial    | 0 / 1 / 0 / 0 💬	9 drugs   [ 1 drug ]	-	68 patients Age distribution💬
126	Perry syndrome [Neu] 💬	-	-	-	3 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	1,352 patients Age distribution💬
128	Bickerstaff brainstem encephalitis [Neu] 💬	-	-	-	78 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 ]	-	47 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"	-	-	-	45 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 ]	-	50 patients Age distribution💬
132	Congenital supranuclear bulbar palsy [Neu] 💬 "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"	-	-	-	7 patients Age distribution💬
133	Moebius syndrome [Neu] 💬 "Mobius syndrome", "Möbius syndrome"	-	-	-	14 patients Age distribution💬
134	Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome"	1 trial    | 0 / 0 / 0 / 1 💬	1 drug   [ - ]	-	14 patients Age distribution💬
135	Aicardi syndrome [Neu] 💬	1 trial    | 0 / 1 / 0 / 0 💬	9 drugs   [ 3 drugs ]	-	13 patients Age distribution💬
136	Hemimegalencephaly [Neu] 💬 "Unilateral megalencephaly"	-	-	-	23 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	77 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	76 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	44 patients Age distribution💬
140	Dorabe syndrome [Neu] 💬 "Dravet syndrome"	116 trials    | 46 / 25 / 80 / 11 💬	65 drugs   [ 17 drugs ]	50 genes   64 pathways	84 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   [ - ]	-	72 patients Age distribution💬
142	Myoclonic absence epilepsy [Neu] 💬	-	-	-	4 patients Age distribution💬
143	Epilepsy with myoclonic-atonic seizure [Neu] 💬 "Epilepsy with myoclonic cataplexy"	-	-	-	19 patients Age distribution💬
144	Lennox-Gastaut syndrome [Neu] 💬	111 trials    | 35 / 17 / 79 / 8 💬	72 drugs   [ 14 drugs ]	49 genes   61 pathways	348 patients Age distribution💬
145	West syndrome [Neu] 💬 "Infantile spasm"	43 trials    | 16 / 15 / 18 / 9 💬	52 drugs   [ 15 drugs ]	28 genes   26 pathways	290 patients Age distribution💬
146	Ohtahara syndrome [Neu] 💬 "Early infantile epileptic encephalopathy with suppression burst"	-	-	-	21 patients Age distribution💬
147	Early myoclonic encephalopathy [Neu] 💬	-	-	-	9 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"	-	-	-	18 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	33 patients Age distribution💬
150	Ring chromosome 20 epilepsy syndrome [Neu] 💬 "Ring chromosome 20 syndrome"	-	-	-	12 patients Age distribution💬
151	Rasmussen encephalitis [Neu] 💬	1 trial    | 0 / 1 / 1 / 0 💬	2 drugs   [ 1 drug ]	5 genes   33 pathways	48 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	12 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"	-	-	-	65 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	21 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	4 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	109 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	75 patients Age distribution💬
158	Tuberous sclerosis [Neu] 💬 "Tuberous sclerosis complex"	112 trials    | 49 / 40 / 55 / 17 💬	71 drugs   [ 19 drugs ]	35 genes   118 pathways	1,017 patients Age distribution💬
159	Xeroderma pigmentosum [Skin] 💬 "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	82 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	100 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	63 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	3,850 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"	-	-	-	636 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	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"	-	-	-	19 patients Age distribution💬
166	Pseudoxanthoma elasticum [Skin] 💬 "PXE"	16 trials    | 3 / 13 / 2 / 1 💬	27 drugs   [ 5 drugs ]	5 genes   28 pathways	132 patients Age distribution💬
167	Marfan syndrome [Card] 💬	21 trials    | 15 / 6 / 12 / 4 💬	40 drugs   [ 11 drugs ]	10 genes   50 pathways	1,173 patients Age distribution💬
168	Ehlers-Danlos syndrome [Chr] 💬 "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	217 patients Age distribution💬
169	Menkes disease [Met] 💬	6 trials    | 2 / 2 / 1 / 0 💬	6 drugs   [ 4 drugs ]	9 genes   14 pathways	1 patient Age distribution💬
170	Occipital horn syndrome [Chr] 💬	2 trials    | 1 / 1 / 1 / 0 💬	4 drugs   [ 3 drugs ]	9 genes   14 pathways	2 patients Age distribution💬
171	Wilson disease [Met] 💬 "WD"	79 trials    | 42 / 24 / 32 / 15 💬	77 drugs   [ 17 drugs ]	6 genes   30 pathways	735 patients Age distribution💬
172	Hypophosphatasia [Bone] 💬	34 trials    | 13 / 20 / 4 / 5 💬	17 drugs   [ 4 drugs ]	3 genes   6 pathways	40 patients Age distribution💬
173	VATER syndrome [Chr] 💬 "VATER association", "VACTERL association"	-	-	-	14 patients Age distribution💬
174	Nasu-Hakola disease [Chr] 💬 "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"	-	-	-	6 patients Age distribution💬
175	Weaver syndrome [Chr] 💬	-	-	-	-
176	Coffin-Lowry syndrome [Chr] 💬	-	-	-	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   [ - ]	-	16 patients Age distribution💬
178	Mowat-Wilson syndrome [Chr] 💬	-	-	-	14 patients Age distribution💬
179	Williams syndrome [Card] 💬	5 trials    | 0 / 0 / 0 / 1 💬	14 drugs   [ 7 drugs ]	8 genes   32 pathways	56 patients Age distribution💬
180	ATR-X syndrome [Chr] 💬 "Alpha-thalassemia mental retardation syndrome"	1 trial    | 0 / 1 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	6 patients Age distribution💬
181	Crouzon syndrome [Hear] 💬	-	-	-	20 patients Age distribution💬
182	Apert syndrome [Hear] 💬	-	-	-	10 patients Age distribution💬
183	Pfeiffer syndrome [Hear] 💬 "Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3"	-	-	-	5 patients Age distribution💬
184	Antley-Bixler syndrome [Hear] 💬	-	-	-	3 patients Age distribution💬
185	Coffin-Siris syndrome [Chr] 💬	-	-	-	4 patients Age distribution💬
186	Rothmund-Thomson syndrome [Chr] 💬 "RAPADILINO syndrome", "Baller-Gerold syndrome"	-	-	-	3 patients Age distribution💬
187	Kabuki syndrome [Chr] 💬	4 trials    | 1 / 0 / 0 / 0 💬	9 drugs   [ 2 drugs ]	2 genes   11 pathways	19 patients Age distribution💬
188	Polysplenia syndrome [Card] 💬	-	-	-	63 patients Age distribution💬
189	Asplenia syndrome [Card] 💬	-	-	-	91 patients Age distribution💬
190	Branchio-oto-renal syndrome [Hear] 💬 "BOR syndrome"	-	-	-	7 patients Age distribution💬
191	Werner syndrome [Endo] 💬	3 trials    | 2 / 1 / 0 / 0 💬	4 drugs   [ 3 drugs ]	-	100 patients Age distribution💬
192	Cockayne syndrome [Chr] 💬 "CS"	4 trials    | 1 / 3 / 0 / 0 💬	7 drugs   [ 3 drugs ]	1 gene   51 pathways	6 patients Age distribution💬
193	Prader-Willi syndrome [Endo] 💬	113 trials    | 27 / 42 / 50 / 13 💬	111 drugs   [ 26 drugs ]	48 genes   102 pathways	175 patients Age distribution💬
194	Sotos syndrome [Chr] 💬	-	-	-	23 patients Age distribution💬
195	Noonan syndrome [Chr] 💬	25 trials    | 0 / 3 / 16 / 0 💬	23 drugs   [ 5 drugs ]	2 genes   9 pathways	46 patients Age distribution💬
196	Young-Simpson syndrome [Chr] 💬	-	-	-	-
197	1p36 deletion syndrome [Chr] 💬	-	-	-	8 patients Age distribution💬
198	4p deletion syndrome [Chr] 💬 "4p-syndrome"	-	-	-	8 patients Age distribution💬
199	5p deletion syndrome [Chr] 💬 "5p-syndrome"	-	-	-	7 patients Age distribution💬
200	Paternal uniparental disomy of chromosome 14 [Chr] 💬 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"	-	-	-	6 patients Age distribution💬
201	Angelman syndrome [Neu] 💬	25 trials    | 9 / 8 / 5 / 0 💬	40 drugs   [ 11 drugs ]	22 genes   20 pathways	29 patients Age distribution💬
202	Smith-Magenis syndrome [Chr] 💬	9 trials    | 7 / 4 / 2 / 1 💬	10 drugs   [ 5 drugs ]	4 genes   7 pathways	4 patients Age distribution💬
203	22q11.2 deletion syndrome [Card] 💬	5 trials    | 2 / 1 / 1 / 0 💬	7 drugs   [ 1 drug ]	14 genes   23 pathways	73 patients Age distribution💬
204	Emanuel syndrome [Chr] 💬 "Derivative 22 syndrome", "Partial trisomy (11", "22)"	-	-	-	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	8 patients Age distribution💬
206	Fragile X syndrome [Chr] 💬	108 trials    | 35 / 49 / 16 / 8 💬	91 drugs   [ 36 drugs ]	52 genes   77 pathways	1 patient 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"	-	-	-	38 patients Age distribution💬
208	Corrected transposition of great arteries [Card] 💬	-	-	-	208 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"	-	-	-	288 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	479 patients Age distribution💬
211	Hypoplastic left heart syndrome [Card] 💬 "HLHS"	22 trials    | 10 / 11 / 1 / 0 💬	29 drugs   [ 9 drugs ]	5 genes   14 pathways	70 patients Age distribution💬
212	Tricuspid atresia [Card] 💬 "TA"	5 trials    | 2 / 2 / 0 / 0 💬	6 drugs   [ 6 drugs ]	8 genes   12 pathways	199 patients Age distribution💬
213	Pulmonary atresia without ventricular septum defect [Card] 💬 "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"	-	-	-	157 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 ]	-	123 patients Age distribution💬
215	Tetralogy of Fallot [Card] 💬 "Fallot tetralogy"	18 trials    | 4 / 5 / 2 / 1 💬	26 drugs   [ 14 drugs ]	13 genes   45 pathways	760 patients Age distribution💬
216	Double outlet right ventricle [Card] 💬	-	-	-	286 patients Age distribution💬
217	Ebstein disease [Card] 💬 "Ebstein malformation"	-	-	-	141 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	258 patients Age distribution💬
219	Galloway-Mowat syndrome [Kid] 💬	-	-	-	1 patient Age distribution💬
220	Rapidly progressive glomerulonephritis [Kid] 💬	2 trials    | 0 / 1 / 2 / 0 💬	4 drugs   [ 2 drugs ]	1 gene   1 pathway	1,245 patients Age distribution💬
221	Anti-glomerular basement membrane disease [Kid] 💬	1 trial    | 0 / 1 / 0 / 0 💬	3 drugs   [ 1 drug ]	-	364 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	12,889 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"	-	-	-	373 patients Age distribution💬
224	Purpura nephritis [Kid] 💬	16 trials    | 2 / 3 / 0 / 4 💬	43 drugs   [ 21 drugs ]	15 genes   58 pathways	1,037 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	53 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	1,016 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	895 patients Age distribution💬
228	Bronchiolitis obliterans [Resp] 💬 "Obliterating bronchiolitis"	97 trials    | 49 / 40 / 36 / 16 💬	118 drugs   [ 32 drugs ]	33 genes   156 pathways	36 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	238 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	164 patients Age distribution💬
231	Alpha-1-antitrypsin deficiency [Resp] 💬 "AATD"	93 trials    | 47 / 59 / 29 / 8 💬	77 drugs   [ 8 drugs ]	10 genes   36 pathways	16 patients Age distribution💬
232	Carney complex [Endo] 💬	2 trials    | 0 / 1 / 0 / 0 💬	2 drugs   [ 1 drug ]	1 gene   29 pathways	25 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	14 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 patient Age distribution💬
235	Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease"	88 trials    | 16 / 20 / 38 / 18 💬	107 drugs   [ 24 drugs ]	5 genes   7 pathways	311 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	119 patients Age distribution💬
237	ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"	-	-	-	16 patients Age distribution💬
238	Vitamin D-resistant rickets [Endo] 💬 "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	462 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"	-	-	-	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	280 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	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 patient Age distribution💬
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 patient Age distribution💬
244	Maple syrup urine disease [Met] 💬 "MSUD"	1 trial    | 0 / 1 / 1 / 0 💬	1 drug   [ 1 drug ]	-	16 patients Age distribution💬
245	Propionic acidemia [Met] 💬	13 trials    | 5 / 7 / 1 / 0 💬	16 drugs   [ 3 drugs ]	1 gene   6 pathways	16 patients Age distribution💬
246	Methylmalonic acidemia [Met] 💬	23 trials    | 13 / 15 / 2 / 2 💬	31 drugs   [ 8 drugs ]	17 genes   23 pathways	33 patients Age distribution💬
247	Isovaleric acidemia [Met] 💬 "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"	-	-	-	4 patients Age distribution💬
248	Glucose transporter type 1 deficiency [Met] 💬 "GLUT1 deficiency"	29 trials    | 43 / 20 / 9 / 8 💬	9 drugs   [ 1 drug ]	-	21 patients Age distribution💬
249	Glutaric acidemia type 1 [Met] 💬	-	-	-	7 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"	-	-	-	8 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	102 patients Age distribution💬
252	Lysinuric protein intolerance [Met] 💬	-	-	-	25 patients Age distribution💬
253	Congenital folate malabsorption [Met] 💬 "Hereditary folate malabsorption", "Folate malabsorption"	-	-	-	-
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	48 patients Age distribution💬
255	Multiple carboxylase deficiency [Met] 💬 "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"	1 trial    | 1 / 1 / 0 / 0 💬	1 drug   [ - ]	-	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	26 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	105 patients Age distribution💬
258	Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬 "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"	-	-	-	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   [ - ]	-	3 patients Age distribution💬
260	Sitosterolemia [Met] 💬	12 trials    | 0 / 1 / 5 / 0 💬	11 drugs   [ 3 drugs ]	1 gene   1 pathway	22 patients Age distribution💬
261	Tangier disease [Met] 💬	-	-	-	9 patients Age distribution💬
262	Primary hyperchylomicronemia [Met] 💬	-	-	-	55 patients Age distribution💬
263	Cerebrotendinous xanthomatosis [Neu] 💬 "27-hydroxylase deficiency", "CYP27 deficiency"	6 trials    | 0 / 1 / 2 / 0 💬	11 drugs   [ 2 drugs ]	2 genes   4 pathways	48 patients Age distribution💬
264	Abetalipoproteinemia [Met] 💬 "Microsomal triglyceride transfer protein deficiency", "MTP deficiency"	-	-	-	3 patients Age distribution💬
265	Lipodystrophy [Endo] 💬 "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	35 patients Age distribution💬
266	Familial mediterranean fever [Imm] 💬	28 trials    | 1 / 9 / 10 / 1 💬	22 drugs   [ 5 drugs ]	14 genes   59 pathways	657 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	3 patients Age distribution💬
268	Nakajo-Nishimura syndrome [Imm] 💬 "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"	-	-	-	8 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	14 patients Age distribution💬
270	Chronic recurrent multifocal osteomyelitis [Bone] 💬	1 trial    | 0 / 0 / 0 / 0 💬	10 drugs   [ 9 drugs ]	6 genes   73 pathways	115 patients Age distribution💬
271	Ankylosing spondylitis [Bone] 💬 "Spondylarthritis ankylopoietica"	574 trials    | 236 / 145 / 234 / 113 💬	359 drugs   [ 68 drugs ]	41 genes   146 pathways	4,981 patients Age distribution💬
272	Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP"	39 trials    | 17 / 26 / 15 / 3 💬	38 drugs   [ 7 drugs ]	27 genes   95 pathways	24 patients Age distribution💬
273	Congenital scoliosis with rib anomaly [Bone] 💬 "Congenital scoliosis"	-	-	-	21 patients Age distribution💬
274	Osteogenesis Imperfecta [Bone] 💬	91 trials    | 24 / 23 / 32 / 11 💬	101 drugs   [ 20 drugs ]	11 genes   48 pathways	152 patients Age distribution💬
275	Thanatophoric dysplasia [Bone] 💬	-	-	-	5 patients Age distribution💬
276	Achondroplasia [Bone] 💬	51 trials    | 27 / 39 / 13 / 6 💬	34 drugs   [ 6 drugs ]	4 genes   26 pathways	104 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	74 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	24 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	49 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	103 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	244 patients Age distribution💬
282	Congenital dyserythropoietic anemia [Hem] 💬 "CDA"	1 trial    | 0 / 0 / 0 / 1 💬	1 drug   [ 1 drug ]	2 genes   4 pathways	8 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	897 patients Age distribution💬
284	Diamond-Blackfan anemia [Hem] 💬	36 trials    | 18 / 25 / 4 / 2 💬	95 drugs   [ 34 drugs ]	23 genes   126 pathways	22 patients Age distribution💬
285	Fanconi anemia [Hem] 💬	62 trials    | 27 / 37 / 3 / 1 💬	93 drugs   [ 30 drugs ]	30 genes   144 pathways	14 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	14 patients Age distribution💬
287	Epstein syndrome [Chr] 💬	-	-	-	12 patients Age distribution💬
288	Autoimmune acquired coagulation factor deficiency [Hem] 💬 "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	404 patients Age distribution💬
289	Cronkhite-Canada syndrome [Gast] 💬	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	194 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	85 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 ]	-	19 patients Age distribution💬
292	Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure"	-	-	-	18 patients Age distribution💬
293	Persistent cloaca [Gast] 💬	-	-	-	50 patients Age distribution💬
294	Congenital diaphragmatic hernia [Resp] 💬	16 trials    | 6 / 4 / 6 / 3 💬	26 drugs   [ 5 drugs ]	5 genes   14 pathways	12 patients Age distribution💬
295	Infant huge hepatic hemangioma [Gast] 💬 "Infant giant liver hemangioma"	-	-	-	-
296	Biliary atresia [Gast] 💬	71 trials    | 6 / 19 / 12 / 5 💬	70 drugs   [ 39 drugs ]	35 genes   60 pathways	449 patients Age distribution💬
297	Alagille syndrome [Gast] 💬	45 trials    | 7 / 21 / 16 / 2 💬	21 drugs   [ 10 drugs ]	3 genes   5 pathways	44 patients Age distribution💬
298	Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis"	95 trials    | 23 / 25 / 17 / 7 💬	148 drugs   [ 51 drugs ]	53 genes   142 pathways	33 patients Age distribution💬
299	Cystic fibrosis [Gast] 💬	1,695 trials    | 668 / 515 / 636 / 214 💬	1,527 drugs   [ 268 drugs ]	111 genes   174 pathways	13 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	3,766 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	217 patients Age distribution💬
302	Leber hereditary optic neuropathy [Eye] 💬	23 trials    | 29 / 12 / 15 / 6 💬	15 drugs   [ 5 drugs ]	5 genes   33 pathways	134 patients Age distribution💬
303	Usher syndrome [Hear] 💬 [Eye] 💬	10 trials    | 6 / 10 / 2 / 0 💬	11 drugs   [ - ]	-	26 patients Age distribution💬
304	Juvenile-onset bilateral sensorineural hearing loss [Hear] 💬	-	-	-	53 patients Age distribution💬
305	Delayed endolymphatic hydrops [Hear] 💬	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ 1 drug ]	-	28 patients Age distribution💬
306	Eosinophilic sinusitis [Imm] 💬 [Hear] 💬	-	-	-	22,340 patients Age distribution💬
307	Canavan disease [Neu] 💬	6 trials    | 3 / 3 / 0 / 0 💬	11 drugs   [ 5 drugs ]	2 genes   2 pathways	-
308	Progressive leukoencephalopathy [Neu] 💬 "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"	-	-	-	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	43 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	32 patients Age distribution💬
311	Congenital tricuspid stenosis [Card] 💬	-	-	-	4 patients Age distribution💬
312	Congenital mitral stenosis [Card] 💬	-	-	-	13 patients Age distribution💬
313	Congenital pulmonary vein stenosis [Card] 💬	-	-	-	2 patients Age distribution💬
314	Vascular sling [Card] 💬	-	-	-	2 patients Age distribution💬
315	Nail-Patella syndrome [Kid] 💬 "LMX1B-associated nephropathy"	-	-	-	12 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	20 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	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 ]	-	64 patients Age distribution💬
319	Sepiapterin reductase deficiency [Met] 💬	-	-	-	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 patient Age distribution💬
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 ]	-	3 patients Age distribution💬
322	Beta-ketothiolase deficiency [Met] 💬	-	-	-	-
323	Aromatic L-amino acid decarboxylase deficiency [Met] 💬	-	-	-	5 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 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	14 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	21 patients Age distribution💬
327	Idiopathic thrombosis [Hem] 💬	-	-	-	243 patients Age distribution💬
328	Anterior segment dysgenesis [Eye] 💬 "ASD"	-	-	-	17 patients Age distribution💬
329	Aniridia [Eye] 💬	3 trials    | 0 / 2 / 0 / 0 💬	2 drugs   [ 2 drugs ]	-	138 patients Age distribution💬
330	Congenital tracheal stenosis [Resp] 💬 [Hear] 💬 "Congenital subglottic stenosis"	1 trial    | 0 / 1 / 0 / 0 💬	3 drugs   [ 2 drugs ]	-	44 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	1,694 patients Age distribution💬
332	Gelatinous drop-like corneal dystrophy [Eye] 💬	-	-	-	3 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	-
334	Cerebral creatine deficiency syndrome [Neu] 💬 "CCDS"	-	-	-	-
335	Nephronophthisis [Kid] 💬 "NPHP", "NPH"	1 trial    | 0 / 0 / 0 / 0 💬	1 drug   [ - ]	-	17 patients Age distribution💬
336	Familial hypobetalipoproteinemia 1 [Met] 💬 "FHBL1"	-	-	-	1 patient Age distribution💬
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	24 patients Age distribution💬
338	Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC"	60 trials    | 27 / 18 / 40 / 5 💬	26 drugs   [ 6 drugs ]	2 genes   2 pathways	3 patients Age distribution💬