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)
1Spinal 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💬
2Amyotrophic lateral sclerosis [Neu] 💬
"ALS"
 645 trials 
  | 227 / 290 / 231 / 26 💬 
 589 drugs 
 [ 163 drugs
 150 genes 
 225 pathways 
9,765 patients
Age distribution💬
3Spinal 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💬
4Primary lateral sclerosis [Neu] 💬
"PLS"
 5 trials 
  | 2 / 2 / 0 / 1 💬 
 13 drugs 
 [ 6 drugs
 13 genes 
 25 pathways 
146 patients
Age distribution💬
5Progressive supranuclear palsy [Neu] 💬
"PSP"
 89 trials 
  | 45 / 42 / 9 / 6 💬 
 107 drugs 
 [ 40 drugs
 65 genes 
 108 pathways 
12,830 patients
Age distribution💬
6Parkinson 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💬
7Corticobasal degeneration [Neu] 💬
"Corticobasal syndrome", "CBD"
 16 trials 
  | 5 / 3 / 1 / 0 💬 
 28 drugs 
 [ 13 drugs
 9 genes 
 38 pathways 
4,428 patients
Age distribution💬
8Huntington disease [Neu] 💬
"Huntington chorea"
 242 trials 
  | 111 / 134 / 50 / 13 💬 
 205 drugs 
 [ 62 drugs
 85 genes 
 159 pathways 
892 patients
Age distribution💬
9Neuroacanthocytosis [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💬
10Charcot-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💬
11Myasthenia 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💬
12Congenital 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💬
13Multiple 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💬
14Chronic 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💬
15Inclusion body myositis [Neu] 💬
 42 trials 
  | 31 / 19 / 25 / 5 💬 
 33 drugs 
 [ 11 drugs
 12 genes 
 123 pathways 
847 patients
Age distribution💬
16Crow-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💬
17Multiple 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💬
18Spinocerebellar 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💬
19Lysosomal 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💬
20Adrenoleukodystrophy [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💬
21Mitochondrial disease [Met] 💬
 39 trials 
  | 7 / 21 / 15 / 2 💬 
 42 drugs 
 [ 32 drugs
 47 genes 
 67 pathways 
1,630 patients
Age distribution💬
22Moyamoya 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💬
23Prion 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💬
24Subacute sclerosing panencephalitis [Neu] 💬
"SSPE"
   58 patients
Age distribution💬
25Progressive 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💬
26HTLV-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💬
27Idiopathic 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💬
28Systemic 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💬
29Ullrich disease [Neu] 💬
"Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"
   19 patients
Age distribution💬
30Distal 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💬
31Bethlem myopathy [Neu] 💬
"Beth Rem myopathy"
   21 patients
Age distribution💬
32Autophagic vacuolar myopathy [Neu] 💬
"Danon disease", "X-linked myopathy with excessive autophagy", "XMEA"
 1 trial 
  | 1 / 0 / 0 / 0 💬 
 1 drug 
 [ - ] 
 9 patients
Age distribution💬
33Schwartz-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💬
34Neurofibromatosis [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💬
35Pemphigus [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💬
36Epidermolysis 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💬
37Generalised 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💬
38Stevens-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💬
39Toxic 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💬
40Takayasu 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💬
41Giant cell arteritis [Imm] 💬
"Temporal arteritis"
 131 trials 
  | 60 / 42 / 79 / 15 💬 
 139 drugs 
 [ 36 drugs
 33 genes 
 125 pathways 
2,453 patients
Age distribution💬
42Polyarteritis nodosa [Imm] 💬
"PAN"
 15 trials 
  | 0 / 6 / 6 / 2 💬 
 26 drugs 
 [ 16 drugs
 26 genes 
 105 pathways 
2,143 patients
Age distribution💬
43Microscopic polyangiitis [Imm] 💬
"MPA"
 88 trials 
  | 61 / 44 / 42 / 21 💬 
 81 drugs 
 [ 21 drugs
 15 genes 
 90 pathways 
11,078 patients
Age distribution💬
44Wegener 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💬
45Eosinophilic 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💬
46Malignant 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💬
47Buerger disease [Card] 💬
"Thromboangiitis obliterans"
 9 trials 
  | 0 / 3 / 1 / 0 💬 
 14 drugs 
 [ 7 drugs
 5 genes 
 16 pathways 
1,609 patients
Age distribution💬
48Primary 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💬
49Systemic lupus erythematosus [Imm] 💬
"SLE"
 993 trials 
  | 415 / 404 / 286 / 118 💬 
 702 drugs 
 [ 184 drugs
 116 genes 
 200 pathways 
65,145 patients
Age distribution💬
50Dermatomyositis [Imm] 💬
"Polymyositis"
 194 trials 
  | 54 / 83 / 61 / 17 💬 
 244 drugs 
 [ 89 drugs
 50 genes 
 151 pathways 
26,046 patients
Age distribution💬
51Scleroderma [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💬
52Mixed connective tissue disease [Imm] 💬
 8 trials 
  | 0 / 5 / 1 / 0 💬 
 7 drugs 
 [ 3 drugs
 1 gene 
 1 pathway 
10,099 patients
Age distribution💬
53Sjogren 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💬
54Adult 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💬
55Relapsing polychondritis [Imm] 💬
 8 trials 
  | 1 / 4 / 0 / 0 💬 
 10 drugs 
 [ 9 drugs
 12 genes 
 101 pathways 
993 patients
Age distribution💬
56Behcet 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💬
57Idiopathic dilated cardiomyopathy [Card] 💬
 11 trials 
  | 3 / 6 / 1 / 3 💬 
 23 drugs 
 [ 12 drugs
 9 genes 
 35 pathways 
18,234 patients
Age distribution💬
58Hypertrophic 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💬
59Restricted cardiomyopathy [Card] 💬
"Restrictive cardiomyopathy", "Constrictive cardiomyopathy"
   60 patients
Age distribution💬
60Aplastic 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💬
61Autoimmune 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💬
62Paroxysmal 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💬
63Idiopathic 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💬
64Thrombotic 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💬
65Primary 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💬
66IgA 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💬
67Polycystic 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💬
68Ossification 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💬
69Ossification of posterior longitudinal ligament [Bone] 💬
 2 trials 
  | 0 / 0 / 0 / 0 💬 
 2 drugs 
 [ 3 drugs
 31,571 patients
Age distribution💬
70Spinal 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💬
71Idiopathic 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💬
72Pituitary 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💬
73TSH-secreting pituitary adenoma [Endo] 💬
"Pituitary TSH secretion hyperthyroidism"
 1 trial 
  | 0 / 0 / 1 / 0 💬 
 3 drugs 
 [ 2 drugs
 200 patients
Age distribution💬
74Prolactin 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💬
75Cushing disease [Endo] 💬
"Cushing"
 205 trials 
  | 126 / 86 / 92 / 38 💬 
 176 drugs 
 [ 45 drugs
 61 genes 
 127 pathways 
960 patients
Age distribution💬
76Pituitary 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💬
77Growth 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💬
78Hypopituitarism [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💬
79Homozygous familial hypercholesterolemia [Met] 💬
 145 trials 
  | 51 / 42 / 94 / 10 💬 
 114 drugs 
 [ 26 drugs
 8 genes 
 17 pathways 
398 patients
Age distribution💬
80Resistance 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💬
81Congenital 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💬
82Congenital 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💬
83Addison 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💬
84Sarcoidosis [Resp] 💬
 149 trials 
  | 52 / 70 / 31 / 25 💬 
 202 drugs 
 [ 78 drugs
 66 genes 
 169 pathways 
15,627 patients
Age distribution💬
85Idiopathic 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💬
86Pulmonary 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💬
87Pulmonary 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💬
88Chronic 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💬
89Lymphangioleiomyomatosis [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💬
90Retinitis 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💬
91Budd-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💬
92Idiopathic portal hypertension [Gast] 💬
"Banti syndrome"
   313 patients
Age distribution💬
93Primary 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💬
94Primary 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💬
95Autoimmune hepatitis [Gast] 💬
 52 trials 
  | 11 / 25 / 11 / 11 💬 
 68 drugs 
 [ 27 drugs
 18 genes 
 111 pathways 
7,081 patients
Age distribution💬
96Crohn 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💬
97Ulcerative colitis [Gast] 💬
 2,630 trials 
  | 943 / 957 / 1089 / 298 💬 
 1,459 drugs 
 [ 265 drugs
 144 genes 
 202 pathways 
141,387 patients
Age distribution💬
98Eosinophilic 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💬
99Chronic 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💬
100Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬
"MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"
   2 patients
Age distribution💬
101Congenital isolated hypoganglionosis [Gast] 💬
"Intestinal ganglion cells insignificant disease"
   16 patients
Age distribution💬
102Rubinstein-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💬
103Cardio-facio-cutaneous syndrome [Chr] 💬
"CFC syndrome"
   8 patients
Age distribution💬
104Costello syndrome [Chr] 💬
   9 patients
Age distribution💬
105CHARGE syndrome [Chr] 💬
   34 patients
Age distribution💬
106Cryopyrin-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💬
107Juvenile 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💬
108TNF receptor-associated periodic syndrome [Imm] 💬
 4 trials 
  | 5 / 1 / 2 / 1 💬 
 7 drugs 
 [ 1 drug
 1 gene 
 44 pathways 
35 patients
Age distribution💬
109Atypical hemolytic uremic syndrome [Kid] 💬
"aHUS"
 114 trials 
  | 75 / 41 / 54 / 18 💬 
 36 drugs 
 [ 7 drugs
 3 genes 
 11 pathways 
81 patients
Age distribution💬
110Blau 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💬
111Congenital 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💬
112Marinesco-Sjogren syndrome [Neu] 💬
"Hereditary cerebellar ataxia-childhood cataracts"
   4 patients
Age distribution💬
113Muscular 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💬
114Non-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💬
115Hereditary 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💬
116Atopic myelitis [Neu] 💬
"Idiopathic eosinophilic myelitis"
   54 patients
Age distribution💬
117Syringomyelia [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💬
118Myelomeningocele [Neu] 💬
"Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"
 5 trials 
  | 1 / 1 / 0 / 1 💬 
 7 drugs 
 [ 4 drugs
 2 genes 
 10 pathways 
137 patients
Age distribution💬
119Isaacs syndrome [Neu] 💬
"Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"
   117 patients
Age distribution💬
120Hereditary 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💬
121Neuroferritinopathy [Neu] 💬
   2 patients
Age distribution💬
122Superficial 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💬
123Cerebral 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💬
124Cerebral 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💬
125Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬
"HDLS", "Hereditary diffuse leukoencephalopathy"
 1 trial 
  | 0 / 1 / 0 / 0 💬 
 9 drugs 
 [ 1 drug
 68 patients
Age distribution💬
126Perry syndrome [Neu] 💬
   3 patients
Age distribution💬
127Frontotemporal 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💬
128Bickerstaff brainstem encephalitis [Neu] 💬
   78 patients
Age distribution💬
129Acute 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💬
130Congenital 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💬
131Alexander 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💬
132Congenital supranuclear bulbar palsy [Neu] 💬
"Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"
   7 patients
Age distribution💬
133Moebius syndrome [Neu] 💬
"Mobius syndrome", "Möbius syndrome"
   14 patients
Age distribution💬
134Septo-optic dysplasia [Eye] 💬
"De Morsier syndrome"
 1 trial 
  | 0 / 0 / 0 / 1 💬 
 1 drug 
 [ - ] 
 14 patients
Age distribution💬
135Aicardi syndrome [Neu] 💬
 1 trial 
  | 0 / 1 / 0 / 0 💬 
 9 drugs 
 [ 3 drugs
 13 patients
Age distribution💬
136Hemimegalencephaly [Neu] 💬
"Unilateral megalencephaly"
   23 patients
Age distribution💬
137Focal 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💬
138Nerve 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💬
139Congenital 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💬
140Dorabe syndrome [Neu] 💬
"Dravet syndrome"
 116 trials 
  | 46 / 25 / 80 / 11 💬 
 65 drugs 
 [ 17 drugs
 50 genes 
 64 pathways 
84 patients
Age distribution💬
141Mesial 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💬
142Myoclonic absence epilepsy [Neu] 💬
   4 patients
Age distribution💬
143Epilepsy with myoclonic-atonic seizure [Neu] 💬
"Epilepsy with myoclonic cataplexy"
   19 patients
Age distribution💬
144Lennox-Gastaut syndrome [Neu] 💬
 111 trials 
  | 35 / 17 / 79 / 8 💬 
 72 drugs 
 [ 14 drugs
 49 genes 
 61 pathways 
348 patients
Age distribution💬
145West syndrome [Neu] 💬
"Infantile spasm"
 43 trials 
  | 16 / 15 / 18 / 9 💬 
 52 drugs 
 [ 15 drugs
 28 genes 
 26 pathways 
290 patients
Age distribution💬
146Ohtahara syndrome [Neu] 💬
"Early infantile epileptic encephalopathy with suppression burst"
   21 patients
Age distribution💬
147Early myoclonic encephalopathy [Neu] 💬
   9 patients
Age distribution💬
148Epilepsy of infancy with migrating focal seizure [Neu] 💬
"Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy"
   18 patients
Age distribution💬
149Hemiconvulsion 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💬
150Ring chromosome 20 epilepsy syndrome [Neu] 💬
"Ring chromosome 20 syndrome"
   12 patients
Age distribution💬
151Rasmussen encephalitis [Neu] 💬
 1 trial 
  | 0 / 1 / 1 / 0 💬 
 2 drugs 
 [ 1 drug
 5 genes 
 33 pathways 
48 patients
Age distribution💬
152PCDH19 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💬
153Acute 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💬
154Epilepsy 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💬
155Acquired 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💬
156Rett 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💬
157Sturge-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💬
158Tuberous sclerosis [Neu] 💬
"Tuberous sclerosis complex"
 112 trials 
  | 49 / 40 / 55 / 17 💬 
 71 drugs 
 [ 19 drugs
 35 genes 
 118 pathways 
1,017 patients
Age distribution💬
159Xeroderma 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💬
160Congenital 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💬
161Familial 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💬
162Pemphigoid [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💬
163Idiopathic pure sudomotor failure [Skin] 💬
"Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure"
   636 patients
Age distribution💬
164Oculocutaneous 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💬
165Pachydermoperiostosis [Chr] 💬
"PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP"
   19 patients
Age distribution💬
166Pseudoxanthoma elasticum [Skin] 💬
"PXE"
 16 trials 
  | 3 / 13 / 2 / 1 💬 
 27 drugs 
 [ 5 drugs
 5 genes 
 28 pathways 
132 patients
Age distribution💬
167Marfan syndrome [Card] 💬
 21 trials 
  | 15 / 6 / 12 / 4 💬 
 40 drugs 
 [ 11 drugs
 10 genes 
 50 pathways 
1,173 patients
Age distribution💬
168Ehlers-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💬
169Menkes disease [Met] 💬
 6 trials 
  | 2 / 2 / 1 / 0 💬 
 6 drugs 
 [ 4 drugs
 9 genes 
 14 pathways 
1 patient
Age distribution💬
170Occipital horn syndrome [Chr] 💬
 2 trials 
  | 1 / 1 / 1 / 0 💬 
 4 drugs 
 [ 3 drugs
 9 genes 
 14 pathways 
2 patients
Age distribution💬
171Wilson disease [Met] 💬
"WD"
 79 trials 
  | 42 / 24 / 32 / 15 💬 
 77 drugs 
 [ 17 drugs
 6 genes 
 30 pathways 
735 patients
Age distribution💬
172Hypophosphatasia [Bone] 💬
 34 trials 
  | 13 / 20 / 4 / 5 💬 
 17 drugs 
 [ 4 drugs
 3 genes 
 6 pathways 
40 patients
Age distribution💬
173VATER syndrome [Chr] 💬
"VATER association", "VACTERL association"
   14 patients
Age distribution💬
174Nasu-Hakola disease [Chr] 💬
"Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"
   6 patients
Age distribution💬
175Weaver syndrome [Chr] 💬
   -
176Coffin-Lowry syndrome [Chr] 💬
   5 patients
Age distribution💬
177Joubert 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💬
178Mowat-Wilson syndrome [Chr] 💬
   14 patients
Age distribution💬
179Williams syndrome [Card] 💬
 5 trials 
  | 0 / 0 / 0 / 1 💬 
 14 drugs 
 [ 7 drugs
 8 genes 
 32 pathways 
56 patients
Age distribution💬
180ATR-X syndrome [Chr] 💬
"Alpha-thalassemia mental retardation syndrome"
 1 trial 
  | 0 / 1 / 0 / 0 💬 
 3 drugs 
 [ 2 drugs
 6 patients
Age distribution💬
181Crouzon syndrome [Hear] 💬
   20 patients
Age distribution💬
182Apert syndrome [Hear] 💬
   10 patients
Age distribution💬
183Pfeiffer syndrome [Hear] 💬
"Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3"
   5 patients
Age distribution💬
184Antley-Bixler syndrome [Hear] 💬
   3 patients
Age distribution💬
185Coffin-Siris syndrome [Chr] 💬
   4 patients
Age distribution💬
186Rothmund-Thomson syndrome [Chr] 💬
"RAPADILINO syndrome", "Baller-Gerold syndrome"
   3 patients
Age distribution💬
187Kabuki syndrome [Chr] 💬
 4 trials 
  | 1 / 0 / 0 / 0 💬 
 9 drugs 
 [ 2 drugs
 2 genes 
 11 pathways 
19 patients
Age distribution💬
188Polysplenia syndrome [Card] 💬
   63 patients
Age distribution💬
189Asplenia syndrome [Card] 💬
   91 patients
Age distribution💬
190Branchio-oto-renal syndrome [Hear] 💬
"BOR syndrome"
   7 patients
Age distribution💬
191Werner syndrome [Endo] 💬
 3 trials 
  | 2 / 1 / 0 / 0 💬 
 4 drugs 
 [ 3 drugs
 100 patients
Age distribution💬
192Cockayne syndrome [Chr] 💬
"CS"
 4 trials 
  | 1 / 3 / 0 / 0 💬 
 7 drugs 
 [ 3 drugs
 1 gene 
 51 pathways 
6 patients
Age distribution💬
193Prader-Willi syndrome [Endo] 💬
 113 trials 
  | 27 / 42 / 50 / 13 💬 
 111 drugs 
 [ 26 drugs
 48 genes 
 102 pathways 
175 patients
Age distribution💬
194Sotos syndrome [Chr] 💬
   23 patients
Age distribution💬
195Noonan syndrome [Chr] 💬
 25 trials 
  | 0 / 3 / 16 / 0 💬 
 23 drugs 
 [ 5 drugs
 2 genes 
 9 pathways 
46 patients
Age distribution💬
196Young-Simpson syndrome [Chr] 💬
   -
1971p36 deletion syndrome [Chr] 💬
   8 patients
Age distribution💬
1984p deletion syndrome [Chr] 💬
"4p-syndrome"
   8 patients
Age distribution💬
1995p deletion syndrome [Chr] 💬
"5p-syndrome"
   7 patients
Age distribution💬
200Paternal uniparental disomy of chromosome 14 [Chr] 💬
"No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"
   6 patients
Age distribution💬
201Angelman syndrome [Neu] 💬
 25 trials 
  | 9 / 8 / 5 / 0 💬 
 40 drugs 
 [ 11 drugs
 22 genes 
 20 pathways 
29 patients
Age distribution💬
202Smith-Magenis syndrome [Chr] 💬
 9 trials 
  | 7 / 4 / 2 / 1 💬 
 10 drugs 
 [ 5 drugs
 4 genes 
 7 pathways 
4 patients
Age distribution💬
20322q11.2 deletion syndrome [Card] 💬
 5 trials 
  | 2 / 1 / 1 / 0 💬 
 7 drugs 
 [ 1 drug
 14 genes 
 23 pathways 
73 patients
Age distribution💬
204Emanuel syndrome [Chr] 💬
"Derivative 22 syndrome", "Partial trisomy (11", "22)"
   5 patients
Age distribution💬
205Fragile 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💬
206Fragile X syndrome [Chr] 💬
 108 trials 
  | 35 / 49 / 16 / 8 💬 
 91 drugs 
 [ 36 drugs
 52 genes 
 77 pathways 
1 patient
Age distribution💬
207Persistent 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💬
208Corrected transposition of great arteries [Card] 💬
   208 patients
Age distribution💬
209Complete 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💬
210Single 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💬
211Hypoplastic left heart syndrome [Card] 💬
"HLHS"
 22 trials 
  | 10 / 11 / 1 / 0 💬 
 29 drugs 
 [ 9 drugs
 5 genes 
 14 pathways 
70 patients
Age distribution💬
212Tricuspid atresia [Card] 💬
"TA"
 5 trials 
  | 2 / 2 / 0 / 0 💬 
 6 drugs 
 [ 6 drugs
 8 genes 
 12 pathways 
199 patients
Age distribution💬
213Pulmonary atresia without ventricular septum defect [Card] 💬
"Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"
   157 patients
Age distribution💬
214Pulmonary 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💬
215Tetralogy of Fallot [Card] 💬
"Fallot tetralogy"
 18 trials 
  | 4 / 5 / 2 / 1 💬 
 26 drugs 
 [ 14 drugs
 13 genes 
 45 pathways 
760 patients
Age distribution💬
216Double outlet right ventricle [Card] 💬
   286 patients
Age distribution💬
217Ebstein disease [Card] 💬
"Ebstein malformation"
   141 patients
Age distribution💬
218Alport 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💬
219Galloway-Mowat syndrome [Kid] 💬
   1 patient
Age distribution💬
220Rapidly progressive glomerulonephritis [Kid] 💬
 2 trials 
  | 0 / 1 / 2 / 0 💬 
 4 drugs 
 [ 2 drugs
 1 gene 
 1 pathway 
1,245 patients
Age distribution💬
221Anti-glomerular basement membrane disease [Kid] 💬
 1 trial 
  | 0 / 1 / 0 / 0 💬 
 3 drugs 
 [ 1 drug
 364 patients
Age distribution💬
222Primary 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💬
223Primary 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💬
224Purpura nephritis [Kid] 💬
 16 trials 
  | 2 / 3 / 0 / 4 💬 
 43 drugs 
 [ 21 drugs
 15 genes 
 58 pathways 
1,037 patients
Age distribution💬
225Congenital 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💬
226Interstitial 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💬
227Osler 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💬
228Bronchiolitis obliterans [Resp] 💬
"Obliterating bronchiolitis"
 97 trials 
  | 49 / 40 / 36 / 16 💬 
 118 drugs 
 [ 32 drugs
 33 genes 
 156 pathways 
36 patients
Age distribution💬
229Autoimmune 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💬
230Alveolar 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💬
231Alpha-1-antitrypsin deficiency [Resp] 💬
"AATD"
 93 trials 
  | 47 / 59 / 29 / 8 💬 
 77 drugs 
 [ 8 drugs
 10 genes 
 36 pathways 
16 patients
Age distribution💬
232Carney complex [Endo] 💬
 2 trials 
  | 0 / 1 / 0 / 0 💬 
 2 drugs 
 [ 1 drug
 1 gene 
 29 pathways 
25 patients
Age distribution💬
233Wolfram 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💬
234Peroxisomal 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💬
235Hypoparathyroidism [Endo] 💬
"Accessory thyroid hypergasia disease"
 88 trials 
  | 16 / 20 / 38 / 18 💬 
 107 drugs 
 [ 24 drugs
 5 genes 
 7 pathways 
311 patients
Age distribution💬
236Pseudohypoparathyroidism [Endo] 💬
"PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"
 3 trials 
  | 0 / 2 / 0 / 0 💬 
 3 drugs 
 [ 2 drugs
 18 genes 
 23 pathways 
119 patients
Age distribution💬
237ACTH unresponsiveness [Endo] 💬
"Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"
   16 patients
Age distribution💬
238Vitamin 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💬
239Vitamin 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💬
240Phenylketonuria [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💬
241Hypertyrosinemia 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💬
242Hypertyrosinemia 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💬
243Hypertyrosinemia 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💬
244Maple syrup urine disease [Met] 💬
"MSUD"
 1 trial 
  | 0 / 1 / 1 / 0 💬 
 1 drug 
 [ 1 drug
 16 patients
Age distribution💬
245Propionic acidemia [Met] 💬
 13 trials 
  | 5 / 7 / 1 / 0 💬 
 16 drugs 
 [ 3 drugs
 1 gene 
 6 pathways 
16 patients
Age distribution💬
246Methylmalonic acidemia [Met] 💬
 23 trials 
  | 13 / 15 / 2 / 2 💬 
 31 drugs 
 [ 8 drugs
 17 genes 
 23 pathways 
33 patients
Age distribution💬
247Isovaleric acidemia [Met] 💬
"Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"
   4 patients
Age distribution💬
248Glucose transporter type 1 deficiency [Met] 💬
"GLUT1 deficiency"
 29 trials 
  | 43 / 20 / 9 / 8 💬 
 9 drugs 
 [ 1 drug
 21 patients
Age distribution💬
249Glutaric acidemia type 1 [Met] 💬
   7 patients
Age distribution💬
250Glutaric 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💬
251Urea 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💬
252Lysinuric protein intolerance [Met] 💬
   25 patients
Age distribution💬
253Congenital folate malabsorption [Met] 💬
"Hereditary folate malabsorption", "Folate malabsorption"
   -
254Porphyria [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💬
255Multiple carboxylase deficiency [Met] 💬
"Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"
 1 trial 
  | 1 / 1 / 0 / 0 💬 
 1 drug 
 [ - ] 
 6 patients
Age distribution💬
256Muscle 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💬
257Hepatic 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💬
258Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬
"Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"
   2 patients
Age distribution💬
259Lecithin-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💬
260Sitosterolemia [Met] 💬
 12 trials 
  | 0 / 1 / 5 / 0 💬 
 11 drugs 
 [ 3 drugs
 1 gene 
 1 pathway 
22 patients
Age distribution💬
261Tangier disease [Met] 💬
   9 patients
Age distribution💬
262Primary hyperchylomicronemia [Met] 💬
   55 patients
Age distribution💬
263Cerebrotendinous 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💬
264Abetalipoproteinemia [Met] 💬
"Microsomal triglyceride transfer protein deficiency", "MTP deficiency"
   3 patients
Age distribution💬
265Lipodystrophy [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💬
266Familial mediterranean fever [Imm] 💬
 28 trials 
  | 1 / 9 / 10 / 1 💬 
 22 drugs 
 [ 5 drugs
 14 genes 
 59 pathways 
657 patients
Age distribution💬
267Hyper-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💬
268Nakajo-Nishimura syndrome [Imm] 💬
"Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"
   8 patients
Age distribution💬
269Pyogenic 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💬
270Chronic recurrent multifocal osteomyelitis [Bone] 💬
 1 trial 
  | 0 / 0 / 0 / 0 💬 
 10 drugs 
 [ 9 drugs
 6 genes 
 73 pathways 
115 patients
Age distribution💬
271Ankylosing spondylitis [Bone] 💬
"Spondylarthritis ankylopoietica"
 574 trials 
  | 236 / 145 / 234 / 113 💬 
 359 drugs 
 [ 68 drugs
 41 genes 
 146 pathways 
4,981 patients
Age distribution💬
272Fibrodysplasia ossificans progressiva [Bone] 💬
"FOP"
 39 trials 
  | 17 / 26 / 15 / 3 💬 
 38 drugs 
 [ 7 drugs
 27 genes 
 95 pathways 
24 patients
Age distribution💬
273Congenital scoliosis with rib anomaly [Bone] 💬
"Congenital scoliosis"
   21 patients
Age distribution💬
274Osteogenesis Imperfecta [Bone] 💬
 91 trials 
  | 24 / 23 / 32 / 11 💬 
 101 drugs 
 [ 20 drugs
 11 genes 
 48 pathways 
152 patients
Age distribution💬
275Thanatophoric dysplasia [Bone] 💬
   5 patients
Age distribution💬
276Achondroplasia [Bone] 💬
 51 trials 
  | 27 / 39 / 13 / 6 💬 
 34 drugs 
 [ 6 drugs
 4 genes 
 26 pathways 
104 patients
Age distribution💬
277Lymphangiomatosis [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💬
278Huge 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💬
279Huge 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💬
280Huge 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💬
281Klippel-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💬
282Congenital dyserythropoietic anemia [Hem] 💬
"CDA"
 1 trial 
  | 0 / 0 / 0 / 1 💬 
 1 drug 
 [ 1 drug
 2 genes 
 4 pathways 
8 patients
Age distribution💬
283Acquired 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💬
284Diamond-Blackfan anemia [Hem] 💬
 36 trials 
  | 18 / 25 / 4 / 2 💬 
 95 drugs 
 [ 34 drugs
 23 genes 
 126 pathways 
22 patients
Age distribution💬
285Fanconi anemia [Hem] 💬
 62 trials 
  | 27 / 37 / 3 / 1 💬 
 93 drugs 
 [ 30 drugs
 30 genes 
 144 pathways 
14 patients
Age distribution💬
286Hereditary 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💬
287Epstein syndrome [Chr] 💬
   12 patients
Age distribution💬
288Autoimmune 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💬
289Cronkhite-Canada syndrome [Gast] 💬
 1 trial 
  | 0 / 0 / 0 / 0 💬 
 1 drug 
 [ 1 drug
 194 patients
Age distribution💬
290Chronic 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💬
291Hirschsprung 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💬
292Cloacal exstrophy [Gast] 💬
"Vesicointestinal fissure"
   18 patients
Age distribution💬
293Persistent cloaca [Gast] 💬
   50 patients
Age distribution💬
294Congenital diaphragmatic hernia [Resp] 💬
 16 trials 
  | 6 / 4 / 6 / 3 💬 
 26 drugs 
 [ 5 drugs
 5 genes 
 14 pathways 
12 patients
Age distribution💬
295Infant huge hepatic hemangioma [Gast] 💬
"Infant giant liver hemangioma"
   -
296Biliary atresia [Gast] 💬
 71 trials 
  | 6 / 19 / 12 / 5 💬 
 70 drugs 
 [ 39 drugs
 35 genes 
 60 pathways 
449 patients
Age distribution💬
297Alagille syndrome [Gast] 💬
 45 trials 
  | 7 / 21 / 16 / 2 💬 
 21 drugs 
 [ 10 drugs
 3 genes 
 5 pathways 
44 patients
Age distribution💬
298Hereditary pancreatitis [Gast] 💬
"Chronic pancreatitis"
 95 trials 
  | 23 / 25 / 17 / 7 💬 
 148 drugs 
 [ 51 drugs
 53 genes 
 142 pathways 
33 patients
Age distribution💬
299Cystic fibrosis [Gast] 💬
 1,695 trials 
  | 668 / 515 / 636 / 214 💬 
 1,527 drugs 
 [ 268 drugs
 111 genes 
 174 pathways 
13 patients
Age distribution💬
300IgG4-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💬
301Macular 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💬
302Leber hereditary optic neuropathy [Eye] 💬
 23 trials 
  | 29 / 12 / 15 / 6 💬 
 15 drugs 
 [ 5 drugs
 5 genes 
 33 pathways 
134 patients
Age distribution💬
303Usher syndrome [Hear] 💬 [Eye] 💬
 10 trials 
  | 6 / 10 / 2 / 0 💬 
 11 drugs 
 [ - ] 
 26 patients
Age distribution💬
304Juvenile-onset bilateral sensorineural hearing loss [Hear] 💬
   53 patients
Age distribution💬
305Delayed endolymphatic hydrops [Hear] 💬
 1 trial 
  | 0 / 0 / 0 / 0 💬 
 1 drug 
 [ 1 drug
 28 patients
Age distribution💬
306Eosinophilic sinusitis [Imm] 💬 [Hear] 💬
   22,340 patients
Age distribution💬
307Canavan disease [Neu] 💬
 6 trials 
  | 3 / 3 / 0 / 0 💬 
 11 drugs 
 [ 5 drugs
 2 genes 
 2 pathways 
-
308Progressive leukoencephalopathy [Neu] 💬
"Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"
   20 patients
Age distribution💬
309Progressive 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💬
310Congenital 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💬
311Congenital tricuspid stenosis [Card] 💬
   4 patients
Age distribution💬
312Congenital mitral stenosis [Card] 💬
   13 patients
Age distribution💬
313Congenital pulmonary vein stenosis [Card] 💬
   2 patients
Age distribution💬
314Vascular sling [Card] 💬
   2 patients
Age distribution💬
315Nail-Patella syndrome [Kid] 💬
"LMX1B-associated nephropathy"
   12 patients
Age distribution💬
316Carnitine 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💬
317Trifunctional 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💬
318Citrin 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💬
319Sepiapterin reductase deficiency [Met] 💬
   2 patients
Age distribution💬
320Inherited 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💬
321Non-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💬
322Beta-ketothiolase deficiency [Met] 💬
   -
323Aromatic L-amino acid decarboxylase deficiency [Met] 💬
   5 patients
Age distribution💬
324Methylglutaconic 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💬
325Hereditary 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💬
326Osteopetrosis [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💬
327Idiopathic thrombosis [Hem] 💬
   243 patients
Age distribution💬
328Anterior segment dysgenesis [Eye] 💬
"ASD"
   17 patients
Age distribution💬
329Aniridia [Eye] 💬
 3 trials 
  | 0 / 2 / 0 / 0 💬 
 2 drugs 
 [ 2 drugs
 138 patients
Age distribution💬
330Congenital tracheal stenosis [Resp] 💬 [Hear] 💬
"Congenital subglottic stenosis"
 1 trial 
  | 0 / 1 / 0 / 0 💬 
 3 drugs 
 [ 2 drugs
 44 patients
Age distribution💬
331Idiopathic 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💬
332Gelatinous drop-like corneal dystrophy [Eye] 💬
   3 patients
Age distribution💬
333Hutchinson-Gilford syndrome [Chr] 💬
"Hutchinson-Gilford progeria syndrome", "HGPS"
 8 trials 
  | 2 / 5 / 0 / 0 💬 
 8 drugs 
 [ 3 drugs
 4 genes 
 6 pathways 
-
334Cerebral creatine deficiency syndrome [Neu] 💬
"CCDS"
   -
335Nephronophthisis [Kid] 💬
"NPHP", "NPH"
 1 trial 
  | 0 / 0 / 0 / 0 💬 
 1 drug 
 [ - ] 
 17 patients
Age distribution💬
336Familial hypobetalipoproteinemia 1 [Met] 💬
"FHBL1"
   1 patient
Age distribution💬
337Homocystinuria [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💬
338Progressive familial intrahepatic cholestasis [Gast] 💬
"PFIC"
 60 trials 
  | 27 / 18 / 40 / 5 💬 
 26 drugs 
 [ 6 drugs
 2 genes 
 2 pathways 
3 patients
Age distribution💬