Disease The intractable diseases designated by MHLW, Japan

Diseases : 348 - Clinical trials : 39,610 / Drugs : 18,765 - ( DrugBank : 2,435 ) / Drug target genes : 703 - Drug target pathways : 305

ID	Disease name [Group]	Clinical trial Phase 1 / 2 / 3 / 4	Drug [ DrugBank ]	Target gene Target pathway	Domestic patients Med expenses recipients (FY2024)
1	Spinal and bulbar muscular atrophy [Neu] 💬 "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome" 1. Spinal and bulbar muscular atrophy × [Neu] Neuromuscular diseases	19 trials    | 1 / 13 / 1 / 1 💬 1. Spinal and bulbar muscular atrophy × Some trials have no Phase data.	16 drugs   [ 7 drugs ]	10 genes   18 pathways	1,758 patients Age distribution💬 1. Spinal and bulbar muscular atrophy × Age Num 0-9 - 10-19 - 20-29 1 30-39 24 40-49 162 50-59 445 60-69 565 70-74 255 75- 306
2	Amyotrophic lateral sclerosis [Neu] 💬 "ALS" 2. Amyotrophic lateral sclerosis × [Neu] Neuromuscular diseases	786 trials    | 153 / 339 / 262 / 10 💬 2. Amyotrophic lateral sclerosis × Some trials have no Phase data.	550 drugs   [ 182 drugs ]	170 genes   232 pathways	9,768 patients Age distribution💬 2. Amyotrophic lateral sclerosis × Age Num 0-9 - 10-19 1 20-29 15 30-39 96 40-49 492 50-59 1,355 60-69 2,400 70-74 1,753 75- 3,656
3	Spinal muscular atrophy [Neu] 💬 "SMA", "Myelopathic muscular atrophy", "Werdnig-Hoffman disease", "Dubowitz disease", "Kugelberg-Welander disease" 3. Spinal muscular atrophy × [Neu] Neuromuscular diseases	297 trials    | 44 / 127 / 131 / 17 💬 3. Spinal muscular atrophy × Some trials have no Phase data.	143 drugs   [ 32 drugs ]	54 genes   82 pathways	943 patients Age distribution💬 3. Spinal muscular atrophy × Age Num 0-9 2 10-19 49 20-29 161 30-39 89 40-49 116 50-59 142 60-69 155 70-74 93 75- 136
4	Primary lateral sclerosis [Neu] 💬 "PLS" 4. Primary lateral sclerosis × [Neu] Neuromuscular diseases	6 trials    | 1 / 0 / 0 / 0 💬 4. Primary lateral sclerosis × Some trials have no Phase data.	10 drugs   [ 6 drugs ]	13 genes   27 pathways	182 patients Age distribution💬 4. Primary lateral sclerosis × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 5 50-59 18 60-69 48 70-74 34 75- 76
5	Progressive supranuclear palsy [Neu] 💬 "PSP" 5. Progressive supranuclear palsy × [Neu] Neuromuscular diseases	93 trials    | 17 / 48 / 9 / 2 💬 5. Progressive supranuclear palsy × Some trials have no Phase data.	97 drugs   [ 33 drugs ]	65 genes   111 pathways	13,564 patients Age distribution💬 5. Progressive supranuclear palsy × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 7 50-59 111 60-69 1,195 70-74 2,119 75- 10,132
6	Parkinson disease [Neu] 💬 "Disease Parkinson's" 6. Parkinson disease × [Neu] Neuromuscular diseases	2,586 trials    | 347 / 712 / 597 / 231 💬 6. Parkinson disease × Some trials have no Phase data.	1,871 drugs   [ 354 drugs ]	188 genes   205 pathways	150,569 patients Age distribution💬 6. Parkinson disease × Age Num 0-9 - 10-19 2 20-29 24 30-39 122 40-49 1,006 50-59 5,869 60-69 20,053 70-74 24,051 75- 99,442
7	Corticobasal degeneration [Neu] 💬 "Corticobasal syndrome", "CBD" 7. Corticobasal degeneration × [Neu] Neuromuscular diseases	25 trials    | 1 / 2 / 0 / 0 💬 7. Corticobasal degeneration × Some trials have no Phase data.	39 drugs   [ 15 drugs ]	9 genes   41 pathways	4,462 patients Age distribution💬 7. Corticobasal degeneration × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 14 50-59 116 60-69 614 70-74 815 75- 2,902
8	Huntington disease [Neu] 💬 "Huntington chorea" 8. Huntington disease × [Neu] Neuromuscular diseases	276 trials    | 69 / 155 / 45 / 4 💬 8. Huntington disease × Some trials have no Phase data.	185 drugs   [ 58 drugs ]	86 genes   160 pathways	860 patients Age distribution💬 8. Huntington disease × Age Num 0-9 - 10-19 1 20-29 7 30-39 31 40-49 113 50-59 225 60-69 213 70-74 97 75- 173
9	Neuroacanthocytosis [Neu] 💬 "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2" 9. Neuroacanthocytosis × [Neu] Neuromuscular diseases	-	-	-	32 patients Age distribution💬 9. Neuroacanthocytosis × Age Num 0-9 - 10-19 - 20-29 - 30-39 6 40-49 10 50-59 9 60-69 3 70-74 3 75- 1
10	Charcot-Marie-Tooth disease [Neu] 💬 "CMT" 10. Charcot-Marie-Tooth disease × [Neu] Neuromuscular diseases	45 trials    | 7 / 15 / 23 / 0 💬 10. Charcot-Marie-Tooth disease × Some trials have no Phase data.	34 drugs   [ 10 drugs ]	12 genes   22 pathways	1,010 patients Age distribution💬 10. Charcot-Marie-Tooth disease × Age Num 0-9 1 10-19 10 20-29 59 30-39 47 40-49 128 50-59 200 60-69 231 70-74 113 75- 221
11	Myasthenia gravis [Neu] 💬 "MG" 11. Myasthenia gravis × [Neu] Neuromuscular diseases	439 trials    | 16 / 117 / 263 / 17 💬 11. Myasthenia gravis × Some trials have no Phase data.	223 drugs   [ 73 drugs ]	50 genes   135 pathways	28,323 patients Age distribution💬 11. Myasthenia gravis × Age Num 0-9 1 10-19 86 20-29 537 30-39 1,174 40-49 2,522 50-59 4,806 60-69 5,787 70-74 3,756 75- 9,654
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" 12. Congenital myasthenic syndrome × [Neu] Neuromuscular diseases	6 trials    | 2 / 0 / 0 / 0 💬 12. Congenital myasthenic syndrome × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	5 genes   15 pathways	18 patients Age distribution💬 12. Congenital myasthenic syndrome × Age Num 0-9 4 10-19 1 20-29 2 30-39 7 40-49 3 50-59 - 60-69 1 70-74 - 75- -
13	Multiple sclerosis [Neu] 💬 "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" 13. Multiple sclerosis × [Neu] Neuromuscular diseases	3,685 trials    | 240 / 740 / 1342 / 402 💬 13. Multiple sclerosis × Some trials have no Phase data.	1,932 drugs   [ 355 drugs ]	263 genes   237 pathways	25,203 patients Age distribution💬 13. Multiple sclerosis × Age Num 0-9 - 10-19 68 20-29 1,289 30-39 3,214 40-49 5,932 50-59 7,136 60-69 4,106 70-74 1,457 75- 2,001
14	Chronic inflammatory demyelinating polyneuropathy [Neu] 💬 "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy" 14. Chronic inflammatory demyelinating polyneuropathy × [Neu] Neuromuscular diseases	223 trials    | 1 / 119 / 92 / 7 💬 14. Chronic inflammatory demyelinating polyneuropathy × Some trials have no Phase data.	119 drugs   [ 28 drugs ]	11 genes   22 pathways	5,642 patients Age distribution💬 14. Chronic inflammatory demyelinating polyneuropathy × Age Num 0-9 - 10-19 11 20-29 155 30-39 250 40-49 612 50-59 1,047 60-69 1,228 70-74 690 75- 1,649
15	Inclusion body myositis [Neu] 💬 15. Inclusion body myositis × [Neu] Neuromuscular diseases	46 trials    | 6 / 18 / 24 / 0 💬 15. Inclusion body myositis × Some trials have no Phase data.	41 drugs   [ 14 drugs ]	14 genes   130 pathways	937 patients Age distribution💬 15. Inclusion body myositis × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 11 50-59 67 60-69 206 70-74 174 75- 479
16	Crow-Fukase syndrome [Neu] 💬 "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "POEMS syndrome", "Takatsuki disease", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome", "PEP syndrome" 16. Crow-Fukase syndrome × [Neu] Neuromuscular diseases	16 trials    | 1 / 9 / 2 / 1 💬 16. Crow-Fukase syndrome × Some trials have no Phase data.	17 drugs   [ 8 drugs ]	5 genes   79 pathways	281 patients Age distribution💬 16. Crow-Fukase syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 8 40-49 37 50-59 65 60-69 74 70-74 41 75- 55
17	Multiple system atrophy [Neu] 💬 "MSA", "MSA", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" 17. Multiple system atrophy × [Neu] Neuromuscular diseases	142 trials    | 12 / 42 / 14 / 0 💬 17. Multiple system atrophy × Some trials have no Phase data.	142 drugs   [ 44 drugs ]	59 genes   110 pathways	10,170 patients Age distribution💬 17. Multiple system atrophy × Age Num 0-9 - 10-19 - 20-29 - 30-39 7 40-49 162 50-59 1,260 60-69 2,820 70-74 1,980 75- 3,941
18	Spinocerebellar degeneration [Neu] 💬 "SCD", ":Spinocerebellar ataxia", "SCA", "Machado-Joseph disease", "MJD", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EAOH", "Neu:Ataxia with vitamin E deficiency", "AVED", "Aprataxin deficiency", "APTX deficiency", "Friedreich ataxia", "FRDA", "Senataxin deficiency", "SETX deficiency", "Autosomal recessive spastic ataxia of Charlevoix-Saguenay", "Spastic ataxia" 18. Spinocerebellar degeneration × [Neu] Neuromuscular diseases	83 trials    | 19 / 45 / 20 / 2 💬 18. Spinocerebellar degeneration × Some trials have no Phase data.	83 drugs   [ 31 drugs ]	30 genes   53 pathways	26,491 patients Age distribution💬 18. Spinocerebellar degeneration × Age Num 0-9 - 10-19 18 20-29 320 30-39 844 40-49 1,830 50-59 3,682 60-69 5,357 70-74 3,899 75- 10,541
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" 19. Lysosomal storage disease × [Met] Metabolic diseases	990 trials    | 222 / 383 / 340 / 62 💬 19. Lysosomal storage disease × Some trials have no Phase data.	584 drugs   [ 126 drugs ]	62 genes   192 pathways	1,836 patients Age distribution💬 19. Lysosomal storage disease × Age Num 0-9 2 10-19 14 20-29 296 30-39 304 40-49 353 50-59 367 60-69 278 70-74 104 75- 118
20	Adrenoleukodystrophy [Met] 💬 "ALD", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral ALD", "AdoCALD", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral ALD", "ACALD" 20. Adrenoleukodystrophy × [Met] Metabolic diseases	68 trials    | 10 / 29 / 29 / 1 💬 20. Adrenoleukodystrophy × Some trials have no Phase data.	74 drugs   [ 32 drugs ]	25 genes   131 pathways	260 patients Age distribution💬 20. Adrenoleukodystrophy × Age Num 0-9 - 10-19 2 20-29 69 30-39 55 40-49 46 50-59 34 60-69 31 70-74 12 75- 11
21	Mitochondrial disease [Met] 💬 "Choronic progressive external ophthalmolegia", "CPEO", "Leigh syndrome", "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode", "MELAS", "Myoclonus epilepsy associated with ragged-red fibers", "MERRF", "Mitochondrial respiratory chain disorders", "Pearson syndrome" 21. Mitochondrial disease × [Met] Metabolic diseases	94 trials    | 13 / 44 / 31 / 1 💬 21. Mitochondrial disease × Some trials have no Phase data.	75 drugs   [ 31 drugs ]	51 genes   106 pathways	1,672 patients Age distribution💬 21. Mitochondrial disease × Age Num 0-9 2 10-19 15 20-29 242 30-39 242 40-49 365 50-59 374 60-69 255 70-74 71 75- 106
22	Moyamoya disease [Neu] 💬 "Occlusive disease in circle of Willis" 22. Moyamoya disease × [Neu] Neuromuscular diseases	23 trials    | 4 / 2 / 1 / 4 💬 22. Moyamoya disease × Some trials have no Phase data.	29 drugs   [ 21 drugs ]	35 genes   50 pathways	13,916 patients Age distribution💬 22. Moyamoya disease × Age Num 0-9 8 10-19 169 20-29 860 30-39 1,527 40-49 2,964 50-59 4,186 60-69 2,323 70-74 820 75- 1,059
23	Prion disease [Neu] 💬 "Creutzfeldt-Jakob disease", "CJD", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" 23. Prion disease × [Neu] Neuromuscular diseases	5 trials    | 1 / 2 / 1 / 0 💬 23. Prion disease × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	-	443 patients Age distribution💬 23. Prion disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 4 40-49 10 50-59 42 60-69 99 70-74 68 75- 220
24	Subacute sclerosing panencephalitis [Neu] 💬 "SSPE" 24. Subacute sclerosing panencephalitis × [Neu] Neuromuscular diseases	-	-	-	46 patients Age distribution💬 24. Subacute sclerosing panencephalitis × Age Num 0-9 - 10-19 - 20-29 11 30-39 26 40-49 8 50-59 - 60-69 - 70-74 1 75- -
25	Progressive multifocal leukoencephalopathy [Neu] 💬 "PML", "Leukoencephalopathy, progressive multifocal" 25. Progressive multifocal leukoencephalopathy × [Neu] Neuromuscular diseases	28 trials    | 1 / 9 / 1 / 1 💬 25. Progressive multifocal leukoencephalopathy × Some trials have no Phase data.	31 drugs   [ 20 drugs ]	7 genes   35 pathways	91 patients Age distribution💬 25. Progressive multifocal leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 13 50-59 15 60-69 21 70-74 18 75- 21
26	HTLV-1-associated myelopathy [Neu] 💬 "Tropical spastic paraparesis", "HTLV-1", "HTLV-I", "HAM" 26. HTLV-1-associated myelopathy × [Neu] Neuromuscular diseases	32 trials    | 8 / 16 / 9 / 3 💬 26. HTLV-1-associated myelopathy × Some trials have no Phase data.	46 drugs   [ 27 drugs ]	35 genes   124 pathways	1,042 patients Age distribution💬 26. HTLV-1-associated myelopathy × Age Num 0-9 - 10-19 - 20-29 - 30-39 11 40-49 21 50-59 93 60-69 260 70-74 200 75- 457
27	Idiopathic basal ganglia calcification [Neu] 💬 "IBGC", "Familial IBGC", "FIBGC", "Primary familial brain calcification", "PFBC", "Fahr disease" 27. Idiopathic basal ganglia calcification × [Neu] Neuromuscular diseases	2 trials    | 0 / 2 / 0 / 0 💬 27. Idiopathic basal ganglia calcification × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	152 patients Age distribution💬 27. Idiopathic basal ganglia calcification × Age Num 0-9 - 10-19 - 20-29 2 30-39 5 40-49 14 50-59 20 60-69 33 70-74 27 75- 51
28	Systemic amyloidosis [Met] 💬 "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Immunoglobulin-related amyloidosis", "Amyloid heavy-chain amyloidosis", "Amyloid heavy-chain amyloidosis", "AH amyloidosis", "Systemic wild-type transthyretin amyloidosis", "Senile systemic amyloidosis", "SSA", "Hereditary transthyretin amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP", "Hereditary systemic amyloidosis" 28. Systemic amyloidosis × [Met] Metabolic diseases	335 trials    | 47 / 129 / 139 / 4 💬 28. Systemic amyloidosis × Some trials have no Phase data.	274 drugs   [ 86 drugs ]	47 genes   165 pathways	8,168 patients Age distribution💬 28. Systemic amyloidosis × Age Num 0-9 - 10-19 - 20-29 5 30-39 31 40-49 124 50-59 445 60-69 1,039 70-74 1,158 75- 5,366
29	Ullrich disease [Neu] 💬 "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" 29. Ullrich disease × [Neu] Neuromuscular diseases	-	-	-	23 patients Age distribution💬 29. Ullrich disease × Age Num 0-9 - 10-19 1 20-29 11 30-39 8 40-49 2 50-59 1 60-69 - 70-74 - 75- -
30	Distal myopathy [Neu] 💬 "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" 30. Distal myopathy × [Neu] Neuromuscular diseases	13 trials    | 1 / 3 / 10 / 0 💬 30. Distal myopathy × Some trials have no Phase data.	11 drugs   [ 2 drugs ]	1 gene   1 pathway	404 patients Age distribution💬 30. Distal myopathy × Age Num 0-9 - 10-19 1 20-29 14 30-39 40 40-49 74 50-59 107 60-69 84 70-74 31 75- 53
31	Bethlem myopathy [Neu] 💬 "Beth Rem myopathy" 31. Bethlem myopathy × [Neu] Neuromuscular diseases	-	-	-	26 patients Age distribution💬 31. Bethlem myopathy × Age Num 0-9 - 10-19 - 20-29 4 30-39 1 40-49 5 50-59 6 60-69 6 70-74 1 75- 3
32	Autophagic vacuolar myopathy [Neu] 💬 "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" 32. Autophagic vacuolar myopathy × [Neu] Neuromuscular diseases	2 trials    | 1 / 1 / 0 / 0 💬 32. Autophagic vacuolar myopathy × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	10 patients Age distribution💬 32. Autophagic vacuolar myopathy × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 1 50-59 2 60-69 2 70-74 - 75- 2
33	Schwartz-Jampel syndrome [Neu] 💬 "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" 33. Schwartz-Jampel syndrome × [Neu] Neuromuscular diseases	-	-	-	1 patient Age distribution💬 33. Schwartz-Jampel syndrome × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 - 60-69 1 70-74 - 75- -
34	Neurofibromatosis [Skin] 💬 "Neurofibromatosis type 1", "NF1", "Recklinghausen disease", "Neurofibromatosis type 2", "NF2" 34. Neurofibromatosis × [Skin] Skin and connective tissue diseases	165 trials    | 46 / 102 / 13 / 6 💬 34. Neurofibromatosis × Some trials have no Phase data.	189 drugs   [ 83 drugs ]	93 genes   209 pathways	4,166 patients Age distribution💬 34. Neurofibromatosis × Age Num 0-9 5 10-19 109 20-29 496 30-39 584 40-49 816 50-59 903 60-69 671 70-74 270 75- 312
35	Pemphigus [Skin] 💬 35. Pemphigus × [Skin] Skin and connective tissue diseases	120 trials    | 10 / 32 / 50 / 6 💬 35. Pemphigus × Some trials have no Phase data.	109 drugs   [ 40 drugs ]	28 genes   167 pathways	3,134 patients Age distribution💬 35. Pemphigus × Age Num 0-9 - 10-19 2 20-29 27 30-39 104 40-49 323 50-59 722 60-69 764 70-74 421 75- 771
36	Epidermolysis bullosa [Skin] 💬 "Kindler syndrome" 36. Epidermolysis bullosa × [Skin] Skin and connective tissue diseases	183 trials    | 51 / 104 / 52 / 2 💬 36. Epidermolysis bullosa × Some trials have no Phase data.	159 drugs   [ 51 drugs ]	69 genes   147 pathways	293 patients Age distribution💬 36. Epidermolysis bullosa × Age Num 0-9 - 10-19 20 20-29 46 30-39 47 40-49 48 50-59 54 60-69 39 70-74 23 75- 16
37	Generalised pustular psoriasis [Skin] 💬 "GPP", "Pustular psoriasis", "Herpetic impetigo" 37. Generalised pustular psoriasis × [Skin] Skin and connective tissue diseases	93 trials    | 3 / 30 / 44 / 5 💬 37. Generalised pustular psoriasis × Some trials have no Phase data.	50 drugs   [ 21 drugs ]	21 genes   99 pathways	2,342 patients Age distribution💬 37. Generalised pustular psoriasis × Age Num 0-9 - 10-19 6 20-29 62 30-39 149 40-49 320 50-59 555 60-69 503 70-74 266 75- 481
38	Stevens-Johnson syndrome [Skin] 💬 "SJS", "Mucocutaneous ocular syndrome" 38. Stevens-Johnson syndrome × [Skin] Skin and connective tissue diseases	19 trials    | 7 / 10 / 3 / 2 💬 38. Stevens-Johnson syndrome × Some trials have no Phase data.	25 drugs   [ 10 drugs ]	14 genes   98 pathways	189 patients Age distribution💬 38. Stevens-Johnson syndrome × Age Num 0-9 - 10-19 4 20-29 17 30-39 16 40-49 29 50-59 41 60-69 36 70-74 14 75- 32
39	Toxic epidermal necrolysis [Skin] 💬 "Toxic epidermal necrosis", "TEN" 39. Toxic epidermal necrolysis × [Skin] Skin and connective tissue diseases	15 trials    | 2 / 3 / 0 / 1 💬 39. Toxic epidermal necrolysis × Some trials have no Phase data.	16 drugs   [ 9 drugs ]	10 genes   99 pathways	84 patients Age distribution💬 39. Toxic epidermal necrolysis × Age Num 0-9 - 10-19 1 20-29 11 30-39 9 40-49 11 50-59 17 60-69 16 70-74 10 75- 9
40	Takayasu arteritis [Imm] 💬 "Aortitis syndrome", "Pulseless disease", "Aortitis syndrome" 40. Takayasu arteritis × [Imm] Immune diseases	30 trials    | 0 / 6 / 8 / 5 💬 40. Takayasu arteritis × Some trials have no Phase data.	41 drugs   [ 22 drugs ]	26 genes   115 pathways	4,715 patients Age distribution💬 40. Takayasu arteritis × Age Num 0-9 - 10-19 20 20-29 544 30-39 655 40-49 706 50-59 769 60-69 739 70-74 426 75- 856
41	Giant cell arteritis [Imm] 💬 "Temporal arteritis" 41. Giant cell arteritis × [Imm] Immune diseases	154 trials    | 5 / 38 / 83 / 7 💬 41. Giant cell arteritis × Some trials have no Phase data.	139 drugs   [ 37 drugs ]	33 genes   125 pathways	3,393 patients Age distribution💬 41. Giant cell arteritis × Age Num 0-9 - 10-19 1 20-29 - 30-39 - 40-49 5 50-59 87 60-69 424 70-74 584 75- 2,292
42	Polyarteritis nodosa [Imm] 💬 "PAN" 42. Polyarteritis nodosa × [Imm] Immune diseases	15 trials    | 0 / 3 / 6 / 2 💬 42. Polyarteritis nodosa × Some trials have no Phase data.	22 drugs   [ 16 drugs ]	26 genes   104 pathways	2,096 patients Age distribution💬 42. Polyarteritis nodosa × Age Num 0-9 - 10-19 3 20-29 32 30-39 91 40-49 191 50-59 339 60-69 445 70-74 305 75- 690
43	Microscopic polyangiitis [Imm] 💬 "MPA" 43. Microscopic polyangiitis × [Imm] Immune diseases	95 trials    | 3 / 33 / 42 / 7 💬 43. Microscopic polyangiitis × Some trials have no Phase data.	65 drugs   [ 23 drugs ]	14 genes   87 pathways	12,922 patients Age distribution💬 43. Microscopic polyangiitis × Age Num 0-9 - 10-19 3 20-29 63 30-39 83 40-49 232 50-59 688 60-69 1,677 70-74 2,006 75- 8,170
44	Wegener granulomatosis [Imm] 💬 "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" 44. Wegener granulomatosis × [Imm] Immune diseases	122 trials    | 1 / 10 / 45 / 3 💬 44. Wegener granulomatosis × Some trials have no Phase data.	89 drugs   [ 31 drugs ]	23 genes   81 pathways	3,682 patients Age distribution💬 44. Wegener granulomatosis × Age Num 0-9 - 10-19 4 20-29 45 30-39 95 40-49 241 50-59 432 60-69 701 70-74 534 75- 1,630
45	Eosinophilic granulomatosis with Polyangiitis [Imm] 💬 "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" 45. Eosinophilic granulomatosis with Polyangiitis × [Imm] Immune diseases	45 trials    | 2 / 5 / 1 / 1 💬 45. Eosinophilic granulomatosis with Polyangiitis × Some trials have no Phase data.	39 drugs   [ 19 drugs ]	19 genes   100 pathways	8,669 patients Age distribution💬 45. Eosinophilic granulomatosis with Polyangiitis × Age Num 0-9 - 10-19 5 20-29 103 30-39 297 40-49 882 50-59 1,830 60-69 2,088 70-74 1,198 75- 2,266
46	Malignant rheumatoid arthritis [Imm] 💬 "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV" 46. Malignant rheumatoid arthritis × [Imm] Immune diseases	4,543 trials    | 358 / 917 / 1169 / 562 💬 46. Malignant rheumatoid arthritis × Some trials have no Phase data.	2,251 drugs   [ 390 drugs ]	198 genes   232 pathways	4,640 patients Age distribution💬 46. Malignant rheumatoid arthritis × Age Num 0-9 - 10-19 - 20-29 11 30-39 71 40-49 265 50-59 653 60-69 1,109 70-74 845 75- 1,686
47	Buerger disease [Card] 💬 "Thromboangiitis obliterans" 47. Buerger disease × [Card] Cardiovascular diseases	14 trials    | 1 / 2 / 1 / 2 💬 47. Buerger disease × Some trials have no Phase data.	18 drugs   [ 13 drugs ]	7 genes   19 pathways	1,310 patients Age distribution💬 47. Buerger disease × Age Num 0-9 - 10-19 1 20-29 7 30-39 19 40-49 93 50-59 279 60-69 292 70-74 187 75- 432
48	Primary antiphospholipid syndrome [Imm] 💬 "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS" 48. Primary antiphospholipid syndrome × [Imm] Immune diseases	9 trials    | 1 / 5 / 1 / 0 💬 48. Primary antiphospholipid syndrome × Some trials have no Phase data.	8 drugs   [ 6 drugs ]	3 genes   59 pathways	1,284 patients Age distribution💬 48. Primary antiphospholipid syndrome × Age Num 0-9 - 10-19 1 20-29 52 30-39 154 40-49 224 50-59 323 60-69 236 70-74 120 75- 174
49	Systemic lupus erythematosus [Imm] 💬 "SLE" 49. Systemic lupus erythematosus × [Imm] Immune diseases	1,227 trials    | 200 / 425 / 303 / 78 💬 49. Systemic lupus erythematosus × Some trials have no Phase data.	752 drugs   [ 175 drugs ]	130 genes   207 pathways	66,928 patients Age distribution💬 49. Systemic lupus erythematosus × Age Num 0-9 1 10-19 195 20-29 4,949 30-39 8,579 40-49 13,730 50-59 16,423 60-69 11,060 70-74 4,756 75- 7,235
50	Dermatomyositis [Imm] 💬 "Polymyositis" 50. Dermatomyositis × [Imm] Immune diseases	231 trials    | 17 / 91 / 68 / 10 💬 50. Dermatomyositis × Some trials have no Phase data.	216 drugs   [ 55 drugs ]	59 genes   141 pathways	27,790 patients Age distribution💬 50. Dermatomyositis × Age Num 0-9 1 10-19 29 20-29 415 30-39 1,004 40-49 2,890 50-59 5,884 60-69 6,748 70-74 3,836 75- 6,983
51	Scleroderma [Imm] 💬 "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" 51. Scleroderma × [Imm] Immune diseases	639 trials    | 70 / 282 / 134 / 24 💬 51. Scleroderma × Some trials have no Phase data.	551 drugs   [ 157 drugs ]	135 genes   222 pathways	27,017 patients Age distribution💬 51. Scleroderma × Age Num 0-9 - 10-19 6 20-29 187 30-39 496 40-49 1,666 50-59 4,224 60-69 6,406 70-74 4,479 75- 9,553
52	Mixed connective tissue disease [Imm] 💬 52. Mixed connective tissue disease × [Imm] Immune diseases	9 trials    | 0 / 4 / 0 / 0 💬 52. Mixed connective tissue disease × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	1 gene   1 pathway	10,233 patients Age distribution💬 52. Mixed connective tissue disease × Age Num 0-9 - 10-19 17 20-29 408 30-39 898 40-49 1,776 50-59 2,669 60-69 2,044 70-74 979 75- 1,442
53	Sjogren syndrome [Imm] 💬 "Sjögren syndrome", "Syndrome Sjogren's", "Autoimmune exocrinopathy" 53. Sjogren syndrome × [Imm] Immune diseases	368 trials    | 30 / 181 / 56 / 23 💬 53. Sjogren syndrome × Some trials have no Phase data.	277 drugs   [ 94 drugs ]	62 genes   186 pathways	21,396 patients Age distribution💬 53. Sjogren syndrome × Age Num 0-9 - 10-19 19 20-29 392 30-39 981 40-49 2,389 50-59 4,642 60-69 4,768 70-74 2,709 75- 5,496
54	Adult still disease [Imm] 💬 "Adult-onset Still's disease" 54. Adult still disease × [Imm] Immune diseases	25 trials    | 1 / 9 / 5 / 0 💬 54. Adult still disease × Some trials have no Phase data.	32 drugs   [ 16 drugs ]	16 genes   99 pathways	4,966 patients Age distribution💬 54. Adult still disease × Age Num 0-9 - 10-19 19 20-29 313 30-39 532 40-49 742 50-59 999 60-69 787 70-74 475 75- 1,099
55	Relapsing polychondritis [Imm] 💬 55. Relapsing polychondritis × [Imm] Immune diseases	10 trials    | 2 / 4 / 0 / 0 💬 55. Relapsing polychondritis × Some trials have no Phase data.	14 drugs   [ 12 drugs ]	14 genes   111 pathways	1,142 patients Age distribution💬 55. Relapsing polychondritis × Age Num 0-9 - 10-19 - 20-29 24 30-39 48 40-49 142 50-59 263 60-69 262 70-74 157 75- 246
56	Behcet disease [Imm] 💬 "Behçet disease", "BD" 56. Behcet disease × [Imm] Immune diseases	87 trials    | 5 / 21 / 30 / 5 💬 56. Behcet disease × Some trials have no Phase data.	90 drugs   [ 35 drugs ]	41 genes   126 pathways	15,087 patients Age distribution💬 56. Behcet disease × Age Num 0-9 - 10-19 40 20-29 823 30-39 1,664 40-49 2,871 50-59 3,717 60-69 2,615 70-74 1,221 75- 2,136
57	Idiopathic dilated cardiomyopathy [Card] 💬 57. Idiopathic dilated cardiomyopathy × [Card] Cardiovascular diseases	11 trials    | 3 / 6 / 1 / 3 💬 57. Idiopathic dilated cardiomyopathy × Some trials have no Phase data.	17 drugs   [ 10 drugs ]	9 genes   35 pathways	17,958 patients Age distribution💬 57. Idiopathic dilated cardiomyopathy × Age Num 0-9 2 10-19 4 20-29 241 30-39 685 40-49 1,825 50-59 3,950 60-69 4,539 70-74 2,387 75- 4,325
58	Hypertrophic cardiomyopathy [Card] 💬 "HCM" 58. Hypertrophic cardiomyopathy × [Card] Cardiovascular diseases	181 trials    | 12 / 68 / 62 / 14 💬 58. Hypertrophic cardiomyopathy × Some trials have no Phase data.	136 drugs   [ 40 drugs ]	49 genes   187 pathways	4,466 patients Age distribution💬 58. Hypertrophic cardiomyopathy × Age Num 0-9 - 10-19 5 20-29 144 30-39 169 40-49 329 50-59 751 60-69 993 70-74 654 75- 1,421
59	Restricted cardiomyopathy [Card] 💬 "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" 59. Restricted cardiomyopathy × [Card] Cardiovascular diseases	1 trial    | 0 / 0 / 0 / 0 💬 59. Restricted cardiomyopathy × Some trials have no Phase data.	3 drugs   [ - ]	-	65 patients Age distribution💬 59. Restricted cardiomyopathy × Age Num 0-9 - 10-19 1 20-29 23 30-39 13 40-49 6 50-59 7 60-69 8 70-74 2 75- 5
60	Aplastic anemia [Hem] 💬 60. Aplastic anemia × [Hem] Hematologic diseases	305 trials    | 52 / 170 / 34 / 33 💬 60. Aplastic anemia × Some trials have no Phase data.	328 drugs   [ 91 drugs ]	60 genes   183 pathways	8,491 patients Age distribution💬 60. Aplastic anemia × Age Num 0-9 1 10-19 35 20-29 417 30-39 478 40-49 672 50-59 1,072 60-69 1,460 70-74 1,081 75- 3,275
61	Autoimmune hemolytic anemia [Hem] 💬 "AIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Evans syndrome" 61. Autoimmune hemolytic anemia × [Hem] Hematologic diseases	183 trials    | 18 / 77 / 80 / 2 💬 61. Autoimmune hemolytic anemia × Some trials have no Phase data.	119 drugs   [ 42 drugs ]	31 genes   156 pathways	1,535 patients Age distribution💬 61. Autoimmune hemolytic anemia × Age Num 0-9 - 10-19 - 20-29 39 30-39 41 40-49 96 50-59 152 60-69 289 70-74 216 75- 702
62	Paroxysmal nocturnal hemoglobinuria [Hem] 💬 "PNH" 62. Paroxysmal nocturnal hemoglobinuria × [Hem] Hematologic diseases	358 trials    | 24 / 109 / 199 / 5 💬 62. Paroxysmal nocturnal hemoglobinuria × Some trials have no Phase data.	160 drugs   [ 35 drugs ]	33 genes   116 pathways	1,264 patients Age distribution💬 62. Paroxysmal nocturnal hemoglobinuria × Age Num 0-9 - 10-19 3 20-29 66 30-39 114 40-49 167 50-59 222 60-69 191 70-74 117 75- 384
63	Idiopathic thrombocytopenic purpura [Hem] 💬 "Primary immune thrombocytopenia", "Immune thrombocytopenic purpura" 63. Idiopathic thrombocytopenic purpura × [Hem] Hematologic diseases	575 trials    | 38 / 128 / 251 / 41 💬 63. Idiopathic thrombocytopenic purpura × Some trials have no Phase data.	261 drugs   [ 64 drugs ]	61 genes   142 pathways	16,597 patients Age distribution💬 63. Idiopathic thrombocytopenic purpura × Age Num 0-9 4 10-19 50 20-29 548 30-39 785 40-49 1,302 50-59 2,012 60-69 2,707 70-74 2,021 75- 7,168
64	Thrombotic thrombocytopenic purpura [Hem] 💬 "TTP", "Upshaw-Schulman syndrome", "USS" 64. Thrombotic thrombocytopenic purpura × [Hem] Hematologic diseases	109 trials    | 5 / 35 / 54 / 3 💬 64. Thrombotic thrombocytopenic purpura × Some trials have no Phase data.	67 drugs   [ 17 drugs ]	18 genes   75 pathways	437 patients Age distribution💬 64. Thrombotic thrombocytopenic purpura × Age Num 0-9 - 10-19 3 20-29 26 30-39 33 40-49 63 50-59 81 60-69 79 70-74 51 75- 101
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", "Other combined immunodeficiencies", "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", "Other predominantly antibody deficiencies", "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", "Other diseases of immune dysregulation", "Familial hemophagocytic syndrome", "FHPS", "Familial hemophagocytic lymphohistiocytosis", "FHL", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Autoimmune polyglandular syndrome", "APS", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Severe congenital neutropenia", "Cyclic neutropenia", "Other congenital defects of neutrophil function", "p14 deficiency", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Other congenital defects of phagocyte function", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Other defects in innate immunity", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "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", "Hereditary angioedema", "C1 inhibitor deficiency", "Inherited deficiency of complement system", "Factor D deficiency", "Factor I deficiency", "Factor H deficiency", "Properdin deficiency", "MASP1 deficiency", "MASP2 deficiency", "3MC syndrome", "Immunodeficiency associated with FCN3 mutation", "FCN3" 65. Primary immunodeficiency × [Hem] Hematologic diseases	798 trials    | 123 / 261 / 315 / 49 💬 65. Primary immunodeficiency × Some trials have no Phase data.	585 drugs   [ 118 drugs ]	100 genes   216 pathways	2,288 patients Age distribution💬 65. Primary immunodeficiency × Age Num 0-9 4 10-19 56 20-29 481 30-39 468 40-49 492 50-59 409 60-69 217 70-74 61 75- 100
66	IgA nephropathy [Kid] 💬 "IgA nephritis", "Berger disease", "IgA-IgG nephropathy" 66. IgA nephropathy × [Kid] Kidney and urinary diseases	349 trials    | 15 / 116 / 113 / 37 💬 66. IgA nephropathy × Some trials have no Phase data.	251 drugs   [ 75 drugs ]	43 genes   152 pathways	15,352 patients Age distribution💬 66. IgA nephropathy × Age Num 0-9 - 10-19 101 20-29 1,252 30-39 2,078 40-49 3,259 50-59 3,800 60-69 2,609 70-74 1,066 75- 1,187
67	Polycystic kidney disease [Kid] 💬 "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD" 67. Polycystic kidney disease × [Kid] Kidney and urinary diseases	233 trials    | 16 / 74 / 97 / 15 💬 67. Polycystic kidney disease × Some trials have no Phase data.	188 drugs   [ 54 drugs ]	60 genes   165 pathways	13,912 patients Age distribution💬 67. Polycystic kidney disease × Age Num 0-9 - 10-19 5 20-29 187 30-39 1,088 40-49 3,118 50-59 4,379 60-69 2,895 70-74 1,059 75- 1,181
68	Ossification of the ligamentum flavum [Bone] 💬 "Ossification of ligamentum flavum", "OLF" 68. Ossification of the ligamentum flavum × [Bone] Bone and joint diseases	1 trial    | 0 / 0 / 0 / 0 💬 68. Ossification of the ligamentum flavum × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	1 gene   4 pathways	6,688 patients Age distribution💬 68. Ossification of the ligamentum flavum × Age Num 0-9 - 10-19 - 20-29 17 30-39 90 40-49 358 50-59 955 60-69 1,320 70-74 979 75- 2,969
69	Ossification of posterior longitudinal ligament [Bone] 💬 69. Ossification of posterior longitudinal ligament × [Bone] Bone and joint diseases	2 trials    | 0 / 0 / 0 / 0 💬 69. Ossification of posterior longitudinal ligament × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	32,083 patients Age distribution💬 69. Ossification of posterior longitudinal ligament × Age Num 0-9 - 10-19 - 20-29 18 30-39 296 40-49 1,702 50-59 4,973 60-69 6,909 70-74 4,859 75- 13,326
70	Spinal stenosis [Bone] 💬 "Extensive spinal canal stenosis" 70. Spinal stenosis × [Bone] Bone and joint diseases	127 trials    | 8 / 15 / 9 / 38 💬 70. Spinal stenosis × Some trials have no Phase data.	178 drugs   [ 67 drugs ]	87 genes   99 pathways	4,713 patients Age distribution💬 70. Spinal stenosis × Age Num 0-9 - 10-19 1 20-29 3 30-39 25 40-49 99 50-59 352 60-69 837 70-74 776 75- 2,620
71	Idiopathic osteonecrosis of the femoral head [Bone] 💬 "Idiopathic femoral head necrosis" 71. Idiopathic osteonecrosis of the femoral head × [Bone] Bone and joint diseases	2 trials    | 0 / 1 / 0 / 0 💬 71. Idiopathic osteonecrosis of the femoral head × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	3 genes   7 pathways	19,771 patients Age distribution💬 71. Idiopathic osteonecrosis of the femoral head × Age Num 0-9 - 10-19 17 20-29 298 30-39 1,029 40-49 2,800 50-59 4,994 60-69 4,791 70-74 2,249 75- 3,593
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" 72. Pituitary ADH secretion disorder × [Endo] Endocrine diseases	48 trials    | 2 / 11 / 16 / 3 💬 72. Pituitary ADH secretion disorder × Some trials have no Phase data.	29 drugs   [ 10 drugs ]	9 genes   18 pathways	3,998 patients Age distribution💬 72. Pituitary ADH secretion disorder × Age Num 0-9 2 10-19 19 20-29 471 30-39 562 40-49 746 50-59 886 60-69 609 70-74 256 75- 447
73	TSH-secreting pituitary adenoma [Endo] 💬 "Pituitary TSH secretion hyperthyroidism" 73. TSH-secreting pituitary adenoma × [Endo] Endocrine diseases	1 trial    | 0 / 0 / 1 / 0 💬 73. TSH-secreting pituitary adenoma × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	2 genes   5 pathways	237 patients Age distribution💬 73. TSH-secreting pituitary adenoma × Age Num 0-9 - 10-19 1 20-29 9 30-39 17 40-49 42 50-59 71 60-69 42 70-74 22 75- 33
74	Prolactin secreting pituitary adenoma [Endo] 💬 "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" 74. Prolactin secreting pituitary adenoma × [Endo] Endocrine diseases	21 trials    | 3 / 7 / 1 / 2 💬 74. Prolactin secreting pituitary adenoma × Some trials have no Phase data.	31 drugs   [ 11 drugs ]	16 genes   65 pathways	2,198 patients Age distribution💬 74. Prolactin secreting pituitary adenoma × Age Num 0-9 - 10-19 23 20-29 246 30-39 434 40-49 559 50-59 467 60-69 233 70-74 85 75- 151
75	Cushing disease [Endo] 💬 "Cushing syndrome" 75. Cushing disease × [Endo] Endocrine diseases	225 trials    | 4 / 75 / 85 / 20 💬 75. Cushing disease × Some trials have no Phase data.	167 drugs   [ 49 drugs ]	65 genes   144 pathways	999 patients Age distribution💬 75. Cushing disease × Age Num 0-9 - 10-19 1 20-29 47 30-39 89 40-49 162 50-59 248 60-69 200 70-74 96 75- 156
76	Pituitary gonadotropin secretion hyperthyroidism [Endo] 💬 "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" 76. Pituitary gonadotropin secretion hyperthyroidism × [Endo] Endocrine diseases	38 trials    | 0 / 0 / 13 / 12 💬 76. Pituitary gonadotropin secretion hyperthyroidism × Some trials have no Phase data.	36 drugs   [ 13 drugs ]	6 genes   19 pathways	28 patients Age distribution💬 76. Pituitary gonadotropin secretion hyperthyroidism × Age Num 0-9 - 10-19 - 20-29 - 30-39 6 40-49 8 50-59 4 60-69 5 70-74 2 75- 3
77	Growth hormone secreting pituitary adenoma [Endo] 💬 "Pituitary growth hormone secretion hyperthyroidism", "Acromegaly" 77. Growth hormone secreting pituitary adenoma × [Endo] Endocrine diseases	351 trials    | 17 / 81 / 118 / 33 💬 77. Growth hormone secreting pituitary adenoma × Some trials have no Phase data.	241 drugs   [ 28 drugs ]	26 genes   87 pathways	4,393 patients Age distribution💬 77. Growth hormone secreting pituitary adenoma × Age Num 0-9 - 10-19 2 20-29 112 30-39 307 40-49 576 50-59 921 60-69 931 70-74 566 75- 978
78	Hypopituitarism [Endo] 💬 "Anterior pituitary hypothyroidism" 78. Hypopituitarism × [Endo] Endocrine diseases	34 trials    | 0 / 4 / 2 / 11 💬 78. Hypopituitarism × Some trials have no Phase data.	44 drugs   [ 11 drugs ]	10 genes   19 pathways	19,919 patients Age distribution💬 78. Hypopituitarism × Age Num 0-9 7 10-19 410 20-29 1,909 30-39 2,104 40-49 3,025 50-59 3,889 60-69 3,508 70-74 1,805 75- 3,262
79	Homozygous familial hypercholesterolemia [Met] 💬 "Familial hypercholesterolaemia" 79. Homozygous familial hypercholesterolemia × [Met] Metabolic diseases	192 trials    | 7 / 36 / 119 / 4 💬 79. Homozygous familial hypercholesterolemia × Some trials have no Phase data.	98 drugs   [ 33 drugs ]	12 genes   21 pathways	488 patients Age distribution💬 79. Homozygous familial hypercholesterolemia × Age Num 0-9 - 10-19 - 20-29 30 30-39 46 40-49 95 50-59 110 60-69 95 70-74 54 75- 58
80	Resistance to thyroid hormone [Endo] 💬 "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" 80. Resistance to thyroid hormone × [Endo] Endocrine diseases	1 trial    | 1 / 0 / 0 / 0 💬 80. Resistance to thyroid hormone × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	3 genes   4 pathways	50 patients Age distribution💬 80. Resistance to thyroid hormone × Age Num 0-9 - 10-19 - 20-29 5 30-39 4 40-49 11 50-59 12 60-69 10 70-74 7 75- 1
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" 81. Congenital adrenal hyperplasia × [Endo] Endocrine diseases	102 trials    | 11 / 46 / 42 / 3 💬 81. Congenital adrenal hyperplasia × Some trials have no Phase data.	72 drugs   [ 18 drugs ]	14 genes   71 pathways	1,113 patients Age distribution💬 81. Congenital adrenal hyperplasia × Age Num 0-9 3 10-19 13 20-29 482 30-39 274 40-49 226 50-59 84 60-69 24 70-74 4 75- 3
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" 82. Congenital adrenal hypoplasia × [Endo] Endocrine diseases	-	-	-	61 patients Age distribution💬 82. Congenital adrenal hypoplasia × Age Num 0-9 - 10-19 2 20-29 38 30-39 12 40-49 6 50-59 3 60-69 - 70-74 - 75- -
83	Addison disease [Endo] 💬 "Primary chronic adrenocortical insufficiency" 83. Addison disease × [Endo] Endocrine diseases	21 trials    | 0 / 5 / 2 / 5 💬 83. Addison disease × Some trials have no Phase data.	29 drugs   [ 9 drugs ]	6 genes   18 pathways	398 patients Age distribution💬 83. Addison disease × Age Num 0-9 - 10-19 1 20-29 18 30-39 19 40-49 51 50-59 72 60-69 77 70-74 56 75- 104
84	Sarcoidosis [Resp] 💬 84. Sarcoidosis × [Resp] Respiratory diseases	175 trials    | 11 / 80 / 31 / 23 💬 84. Sarcoidosis × Some trials have no Phase data.	189 drugs   [ 80 drugs ]	74 genes   177 pathways	16,170 patients Age distribution💬 84. Sarcoidosis × Age Num 0-9 2 10-19 6 20-29 60 30-39 391 40-49 1,404 50-59 2,693 60-69 4,321 70-74 2,504 75- 4,789
85	Idiopathic interstitial pneumonia [Resp] 💬 "IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Idiopathic non-specific interstitial pneumonia", "Idiopathic NSIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Desquamative interstitial pneumonia", "DIP", "Cryptogenic organizing pneumonia", "COP", "Acute interstitial pneumonia", "AIP", "Idiopathic lymphocytic interstitial pneumonia", "Idiopathic LIP", "Idiopathic PPFE" 85. Idiopathic interstitial pneumonia × [Resp] Respiratory diseases	723 trials    | 89 / 288 / 172 / 33 💬 85. Idiopathic interstitial pneumonia × Some trials have no Phase data.	411 drugs   [ 126 drugs ]	104 genes   212 pathways	22,066 patients Age distribution💬 85. Idiopathic interstitial pneumonia × Age Num 0-9 - 10-19 1 20-29 14 30-39 57 40-49 214 50-59 1,048 60-69 3,981 70-74 4,647 75- 12,104
86	Pulmonary arterial hypertension [Resp] 💬 "PAH" 86. Pulmonary arterial hypertension × [Resp] Respiratory diseases	1,288 trials    | 87 / 295 / 486 / 116 💬 86. Pulmonary arterial hypertension × Some trials have no Phase data.	565 drugs   [ 126 drugs ]	81 genes   191 pathways	4,906 patients Age distribution💬 86. Pulmonary arterial hypertension × Age Num 0-9 - 10-19 8 20-29 305 30-39 517 40-49 617 50-59 788 60-69 898 70-74 512 75- 1,261
87	Pulmonary veno-occlusive disease [Resp] 💬 "PVOD", "Pulmonary capillary hemangiomatosis", "PCH" 87. Pulmonary veno-occlusive disease × [Resp] Respiratory diseases	3 trials    | 1 / 1 / 0 / 0 💬 87. Pulmonary veno-occlusive disease × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	4 genes   44 pathways	21 patients Age distribution💬 87. Pulmonary veno-occlusive disease × Age Num 0-9 - 10-19 1 20-29 1 30-39 3 40-49 3 50-59 4 60-69 3 70-74 - 75- 6
88	Chronic thromboembolic pulmonary hypertension [Resp] 💬 "CTEPH", "Idiopathic chronic pulmonary thromboembolism" 88. Chronic thromboembolic pulmonary hypertension × [Resp] Respiratory diseases	174 trials    | 0 / 33 / 60 / 3 💬 88. Chronic thromboembolic pulmonary hypertension × Some trials have no Phase data.	99 drugs   [ 19 drugs ]	17 genes   79 pathways	5,809 patients Age distribution💬 88. Chronic thromboembolic pulmonary hypertension × Age Num 0-9 - 10-19 - 20-29 14 30-39 58 40-49 253 50-59 774 60-69 1,047 70-74 837 75- 2,826
89	Lymphangioleiomyomatosis [Resp] 💬 "LAM" 89. Lymphangioleiomyomatosis × [Resp] Respiratory diseases	44 trials    | 10 / 19 / 8 / 1 💬 89. Lymphangioleiomyomatosis × Some trials have no Phase data.	44 drugs   [ 20 drugs ]	27 genes   138 pathways	984 patients Age distribution💬 89. Lymphangioleiomyomatosis × Age Num 0-9 - 10-19 - 20-29 15 30-39 126 40-49 286 50-59 372 60-69 124 70-74 28 75- 33
90	Retinitis pigmentosa [Eye] 💬 "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" 90. Retinitis pigmentosa × [Eye] Eye diseases	186 trials    | 74 / 96 / 50 / 0 💬 90. Retinitis pigmentosa × Some trials have no Phase data.	191 drugs   [ 52 drugs ]	43 genes   87 pathways	19,993 patients Age distribution💬 90. Retinitis pigmentosa × Age Num 0-9 10 10-19 64 20-29 239 30-39 584 40-49 1,416 50-59 2,733 60-69 3,790 70-74 2,845 75- 8,312
91	Budd-Chiari syndrome [Gast] 💬 "BCS" 91. Budd-Chiari syndrome × [Gast] Gastrointestinal diseases	3 trials    | 0 / 0 / 0 / 1 💬 91. Budd-Chiari syndrome × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	4 genes   12 pathways	222 patients Age distribution💬 91. Budd-Chiari syndrome × Age Num 0-9 - 10-19 2 20-29 15 30-39 22 40-49 53 50-59 62 60-69 30 70-74 15 75- 23
92	Idiopathic portal hypertension [Gast] 💬 "Banti syndrome" 92. Idiopathic portal hypertension × [Gast] Gastrointestinal diseases	-	-	-	331 patients Age distribution💬 92. Idiopathic portal hypertension × Age Num 0-9 - 10-19 2 20-29 27 30-39 26 40-49 53 50-59 74 60-69 66 70-74 36 75- 47
93	Primary biliary cholangitis [Gast] 💬 "Primary biliary cirrhosis", "PBC" 93. Primary biliary cholangitis × [Gast] Gastrointestinal diseases	352 trials    | 23 / 149 / 117 / 44 💬 93. Primary biliary cholangitis × Some trials have no Phase data.	206 drugs   [ 55 drugs ]	40 genes   119 pathways	16,084 patients Age distribution💬 93. Primary biliary cholangitis × Age Num 0-9 - 10-19 - 20-29 8 30-39 149 40-49 796 50-59 2,645 60-69 4,296 70-74 2,775 75- 5,415
94	Primary sclerosing cholangitis [Gast] 💬 "PSC" 94. Primary sclerosing cholangitis × [Gast] Gastrointestinal diseases	177 trials    | 22 / 77 / 49 / 1 💬 94. Primary sclerosing cholangitis × Some trials have no Phase data.	120 drugs   [ 48 drugs ]	25 genes   148 pathways	1,291 patients Age distribution💬 94. Primary sclerosing cholangitis × Age Num 0-9 - 10-19 2 20-29 184 30-39 220 40-49 233 50-59 198 60-69 165 70-74 95 75- 194
95	Autoimmune hepatitis [Gast] 💬 95. Autoimmune hepatitis × [Gast] Gastrointestinal diseases	58 trials    | 4 / 26 / 12 / 7 💬 95. Autoimmune hepatitis × Some trials have no Phase data.	56 drugs   [ 27 drugs ]	23 genes   114 pathways	7,452 patients Age distribution💬 95. Autoimmune hepatitis × Age Num 0-9 1 10-19 6 20-29 105 30-39 215 40-49 519 50-59 1,423 60-69 1,954 70-74 1,204 75- 2,025
96	Crohn disease [Gast] 💬 "CD", "Terminal ileitis", "Inflammatory bowel disease", "IBD" 96. Crohn disease × [Gast] Gastrointestinal diseases	2,737 trials    | 156 / 738 / 1049 / 223 💬 96. Crohn disease × Some trials have no Phase data.	1,197 drugs   [ 240 drugs ]	182 genes   221 pathways	53,664 patients Age distribution💬 96. Crohn disease × Age Num 0-9 3 10-19 584 20-29 9,443 30-39 11,389 40-49 12,118 50-59 11,305 60-69 5,327 70-74 1,481 75- 2,014
97	Ulcerative colitis [Gast] 💬 "UC", "Inflammatory bowel disease", "IBD" 97. Ulcerative colitis × [Gast] Gastrointestinal diseases	3,305 trials    | 165 / 931 / 1039 / 179 💬 97. Ulcerative colitis × Some trials have no Phase data.	1,646 drugs   [ 318 drugs ]	165 genes   220 pathways	151,631 patients Age distribution💬 97. Ulcerative colitis × Age Num 0-9 3 10-19 1,070 20-29 16,029 30-39 23,245 40-49 30,356 50-59 33,954 60-69 23,653 70-74 9,403 75- 13,918
98	Eosinophilic gastro-intestinal disorder [Gast] 💬 "EGID", "Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Neonatal food-protein induced enterocolitis syndrome", "Neonatal food-protein induced enterocolitis", "N-FPIES", "Eosinophilic esophagitis", "EoE", "Eosinophilic gastroenteritis", "EGE" 98. Eosinophilic gastro-intestinal disorder × [Gast] Gastrointestinal diseases	214 trials    | 11 / 75 / 100 / 13 💬 98. Eosinophilic gastro-intestinal disorder × Some trials have no Phase data.	171 drugs   [ 46 drugs ]	48 genes   142 pathways	1,512 patients Age distribution💬 98. Eosinophilic gastro-intestinal disorder × Age Num 0-9 12 10-19 86 20-29 148 30-39 194 40-49 279 50-59 376 60-69 240 70-74 78 75- 99
99	Chronic intestinal pseudo-obstruction [Gast] 💬 "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP" 99. Chronic intestinal pseudo-obstruction × [Gast] Gastrointestinal diseases	7 trials    | 0 / 5 / 0 / 0 💬 99. Chronic intestinal pseudo-obstruction × Some trials have no Phase data.	10 drugs   [ 3 drugs ]	1 gene   5 pathways	207 patients Age distribution💬 99. Chronic intestinal pseudo-obstruction × Age Num 0-9 - 10-19 - 20-29 27 30-39 29 40-49 32 50-59 48 60-69 38 70-74 12 75- 21
100	Megacystis microcolon intestinal hypoperistalsis syndrome [Gast] 💬 "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" 100. Megacystis microcolon intestinal hypoperistalsis syndrome × [Gast] Gastrointestinal diseases	-	-	-	2 patients Age distribution💬 100. Megacystis microcolon intestinal hypoperistalsis syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
101	Congenital isolated hypoganglionosis [Gast] 💬 "Intestinal ganglion cells insignificant disease" 101. Congenital isolated hypoganglionosis × [Gast] Gastrointestinal diseases	-	-	-	23 patients Age distribution💬 101. Congenital isolated hypoganglionosis × Age Num 0-9 - 10-19 2 20-29 14 30-39 5 40-49 - 50-59 1 60-69 1 70-74 - 75- -
102	Rubinstein-Taybi syndrome [Chr] 💬 "RSTS", "Histone acetylation disorder" 102. Rubinstein-Taybi syndrome × [Chr] Chromosomal and gene abnormalities	4 trials    | 0 / 2 / 0 / 0 💬 102. Rubinstein-Taybi syndrome × Some trials have no Phase data.	8 drugs   [ - ]	-	13 patients Age distribution💬 102. Rubinstein-Taybi syndrome × Age Num 0-9 - 10-19 1 20-29 9 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
103	Cardio-facio-cutaneous syndrome [Chr] 💬 "CFC syndrome" 103. Cardio-facio-cutaneous syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	10 patients Age distribution💬 103. Cardio-facio-cutaneous syndrome × Age Num 0-9 - 10-19 1 20-29 6 30-39 2 40-49 - 50-59 1 60-69 - 70-74 - 75- -
104	Costello syndrome [Chr] 💬 104. Costello syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	13 patients Age distribution💬 104. Costello syndrome × Age Num 0-9 1 10-19 1 20-29 8 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
105	CHARGE syndrome [Chr] 💬 105. CHARGE syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	43 patients Age distribution💬 105. CHARGE syndrome × Age Num 0-9 3 10-19 4 20-29 32 30-39 4 40-49 - 50-59 - 60-69 - 70-74 - 75- -
106	Cryopyrin-associated periodic syndrome [Imm] 💬 "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Muckle-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" 106. Cryopyrin-associated periodic syndrome × [Imm] Immune diseases	56 trials    | 3 / 10 / 16 / 0 💬 106. Cryopyrin-associated periodic syndrome × Some trials have no Phase data.	27 drugs   [ 7 drugs ]	4 genes   47 pathways	107 patients Age distribution💬 106. Cryopyrin-associated periodic syndrome × Age Num 0-9 - 10-19 - 20-29 29 30-39 23 40-49 22 50-59 13 60-69 9 70-74 6 75- 5
107	Juvenile idiopathic arthritis [Imm] 💬 "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" 107. Juvenile idiopathic arthritis × [Imm] Immune diseases	477 trials    | 43 / 60 / 193 / 40 💬 107. Juvenile idiopathic arthritis × Some trials have no Phase data.	232 drugs   [ 53 drugs ]	66 genes   160 pathways	1,340 patients Age distribution💬 107. Juvenile idiopathic arthritis × Age Num 0-9 3 10-19 59 20-29 1,018 30-39 187 40-49 53 50-59 15 60-69 4 70-74 - 75- 1
108	TNF receptor-associated periodic syndrome [Imm] 💬 108. TNF receptor-associated periodic syndrome × [Imm] Immune diseases	5 trials    | 0 / 1 / 1 / 0 💬 108. TNF receptor-associated periodic syndrome × Some trials have no Phase data.	5 drugs   [ 1 drug ]	1 gene   43 pathways	36 patients Age distribution💬 108. TNF receptor-associated periodic syndrome × Age Num 0-9 - 10-19 - 20-29 3 30-39 14 40-49 8 50-59 5 60-69 4 70-74 2 75- -
109	Atypical hemolytic uremic syndrome [Kid] 💬 "Atypical HUS", "aHUS" 109. Atypical hemolytic uremic syndrome × [Kid] Kidney and urinary diseases	123 trials    | 0 / 32 / 46 / 4 💬 109. Atypical hemolytic uremic syndrome × Some trials have no Phase data.	29 drugs   [ 6 drugs ]	2 genes   11 pathways	112 patients Age distribution💬 109. Atypical hemolytic uremic syndrome × Age Num 0-9 - 10-19 2 20-29 15 30-39 21 40-49 22 50-59 20 60-69 14 70-74 7 75- 11
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" 110. Blau syndrome × [Imm] Immune diseases	3 trials    | 0 / 0 / 0 / 1 💬 110. Blau syndrome × Some trials have no Phase data.	3 drugs   [ 1 drug ]	4 genes   39 pathways	25 patients Age distribution💬 110. Blau syndrome × Age Num 0-9 - 10-19 - 20-29 8 30-39 9 40-49 3 50-59 4 60-69 1 70-74 - 75- -
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" 111. Congenital myopathy × [Neu] Neuromuscular diseases	10 trials    | 6 / 8 / 2 / 1 💬 111. Congenital myopathy × Some trials have no Phase data.	13 drugs   [ 2 drugs ]	1 gene   11 pathways	405 patients Age distribution💬 111. Congenital myopathy × Age Num 0-9 1 10-19 10 20-29 85 30-39 47 40-49 75 50-59 73 60-69 60 70-74 27 75- 27
112	Marinesco-Sjogren syndrome [Neu] 💬 "Hereditary cerebellar ataxia-childhood cataracts" 112. Marinesco-Sjogren syndrome × [Neu] Neuromuscular diseases	-	-	-	6 patients Age distribution💬 112. Marinesco-Sjogren syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 1 50-59 1 60-69 1 70-74 - 75- -
113	Muscular dystrophy [Neu] 💬 "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "BMD", "Limb-girdle muscular dystrophy", "LGMD", "Congenital muscular dystrophy", "CMD", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "α-dystroglycanopathy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Laminopathy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities", "Facioscapulohumeral muscular dystrophy", "FSMD", "Myotonic dystrophy", "Dystrophia myotonica", "DM", "Emery-Dreifuss muscular dystrophy", "EDMD", "Oculopharyngeal muscular dystrophy", "OPMD", "Myotilinopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy" 113. Muscular dystrophy × [Neu] Neuromuscular diseases	766 trials    | 171 / 308 / 283 / 11 💬 113. Muscular dystrophy × Some trials have no Phase data.	477 drugs   [ 119 drugs ]	80 genes   178 pathways	5,921 patients Age distribution💬 113. Muscular dystrophy × Age Num 0-9 10 10-19 49 20-29 641 30-39 750 40-49 1,300 50-59 1,658 60-69 913 70-74 273 75- 327
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" 114. Non-dystrophic myotonia syndrome × [Neu] Neuromuscular diseases	13 trials    | 0 / 3 / 4 / 0 💬 114. Non-dystrophic myotonia syndrome × Some trials have no Phase data.	14 drugs   [ 4 drugs ]	18 genes   9 pathways	34 patients Age distribution💬 114. Non-dystrophic myotonia syndrome × Age Num 0-9 1 10-19 4 20-29 3 30-39 5 40-49 6 50-59 7 60-69 4 70-74 4 75- -
115	Hereditary periodic paralysis [Neu] 💬 "Hereditary hypokalemic periodic paralysis", "Andersen-Tawil syndrome", "Hereditary hyperkalemic periodic paralysis" 115. Hereditary periodic paralysis × [Neu] Neuromuscular diseases	2 trials    | 1 / 1 / 0 / 0 💬 115. Hereditary periodic paralysis × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	18 genes   9 pathways	77 patients Age distribution💬 115. Hereditary periodic paralysis × Age Num 0-9 - 10-19 7 20-29 20 30-39 17 40-49 14 50-59 13 60-69 4 70-74 1 75- 1
116	Atopic myelitis [Neu] 💬 "Idiopathic eosinophilic myelitis" 116. Atopic myelitis × [Neu] Neuromuscular diseases	-	-	-	66 patients Age distribution💬 116. Atopic myelitis × Age Num 0-9 - 10-19 - 20-29 4 30-39 9 40-49 15 50-59 21 60-69 11 70-74 3 75- 3
117	Syringomyelia [Neu] 💬 117. Syringomyelia × [Neu] Neuromuscular diseases	4 trials    | 0 / 4 / 0 / 0 💬 117. Syringomyelia × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	1 gene   66 pathways	647 patients Age distribution💬 117. Syringomyelia × Age Num 0-9 2 10-19 16 20-29 39 30-39 52 40-49 103 50-59 142 60-69 119 70-74 65 75- 109
118	Myelomeningocele [Neu] 💬 "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" 118. Myelomeningocele × [Neu] Neuromuscular diseases	6 trials    | 1 / 1 / 0 / 1 💬 118. Myelomeningocele × Some trials have no Phase data.	9 drugs   [ 4 drugs ]	2 genes   12 pathways	177 patients Age distribution💬 118. Myelomeningocele × Age Num 0-9 5 10-19 6 20-29 121 30-39 21 40-49 11 50-59 10 60-69 2 70-74 - 75- 1
119	Isaacs syndrome [Neu] 💬 "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" 119. Isaacs syndrome × [Neu] Neuromuscular diseases	-	-	-	118 patients Age distribution💬 119. Isaacs syndrome × Age Num 0-9 - 10-19 1 20-29 6 30-39 9 40-49 16 50-59 28 60-69 21 70-74 16 75- 21
120	Hereditary dystonia [Neu] 💬 "X-linked dystonia parkinsonism", "Lubag", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "Episodic kinesigenic dyskinesia 1", "EKD1", "Myoclonus-dystonia syndrome", "MDS", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "Paroxysmal execise-induced dyskinesia", "PED", "Episodic kinesigenic dyskinesia 2", "EKD2", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "MEPAN syndrome" 120. Hereditary dystonia × [Neu] Neuromuscular diseases	2 trials    | 0 / 0 / 0 / 0 💬 120. Hereditary dystonia × Some trials have no Phase data.	2 drugs   [ - ]	-	148 patients Age distribution💬 120. Hereditary dystonia × Age Num 0-9 - 10-19 7 20-29 42 30-39 28 40-49 29 50-59 19 60-69 18 70-74 5 75- -
121	Neurodegeneration with brain iron accumulation [Neu] 💬 "NBIA", "Neuroferritinopathy", "FTL", "NBIA3", "Pantothenate kinase-associated neurodegeneration", "PKAN", "NBIA1", "Infantile neuroaxonal dystrophy", "INAD", "NBIA2", "Calcium-independent phospholipase A2 group VI (PLA2G6) associated neurodegeneration", "PLAN", "NBIA/DYT/PARK-PLA2G6", "Mitochondrial membrane protein-associated neurodegeneration", "MPAN", "NBIA4", "Static encephalopathy of childhood with neurodegeneration in adulthood", "Beta-propeller protein-associated neurodegeneration", "BPAN", "NBIA5", "Coenzyme A synthase (COASY) protein-associated neurodegeneration", "CoPAN", "NBIA6", "Aceruloplaminemia", "Hereditary ceruloplasmin deficiency", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia、 spastic paraplegia 35", "Kufor-Rakeb syndrome", "DDB1 and CLUL4 associated factor 17", "DCAF17", "Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome" 121. Neurodegeneration with brain iron accumulation × [Neu] Neuromuscular diseases	30 trials    | 1 / 3 / 18 / 1 💬 121. Neurodegeneration with brain iron accumulation × Some trials have no Phase data.	26 drugs   [ 5 drugs ]	4 genes   106 pathways	14 patients Age distribution💬 121. Neurodegeneration with brain iron accumulation × Age Num 0-9 - 10-19 - 20-29 4 30-39 4 40-49 1 50-59 3 60-69 - 70-74 1 75- 1
122	Superficial siderosis [Neu] 💬 "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" 122. Superficial siderosis × [Neu] Neuromuscular diseases	4 trials    | 0 / 0 / 0 / 0 💬 122. Superficial siderosis × Some trials have no Phase data.	8 drugs   [ 2 drugs ]	-	254 patients Age distribution💬 122. Superficial siderosis × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 7 50-59 30 60-69 52 70-74 45 75- 119
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", "HTRA1-related cerebral small vessel disease", "HRSVD" 123. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy × [Neu] Neuromuscular diseases	-	-	-	14 patients Age distribution💬 123. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 3 50-59 6 60-69 3 70-74 - 75- 1
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" 124. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy × [Neu] Neuromuscular diseases	17 trials    | 1 / 11 / 0 / 0 💬 124. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy × Some trials have no Phase data.	19 drugs   [ 9 drugs ]	6 genes   24 pathways	282 patients Age distribution💬 124. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 - 30-39 2 40-49 29 50-59 84 60-69 97 70-74 44 75- 26
125	Hereditary diffuse leukoencephalopathy with spheroid [Neu] 💬 "HDLS", "Hereditary diffuse leukoencephalopathy" 125. Hereditary diffuse leukoencephalopathy with spheroid × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 125. Hereditary diffuse leukoencephalopathy with spheroid × Some trials have no Phase data.	4 drugs   [ 1 drug ]	-	78 patients Age distribution💬 125. Hereditary diffuse leukoencephalopathy with spheroid × Age Num 0-9 - 10-19 - 20-29 - 30-39 9 40-49 24 50-59 32 60-69 7 70-74 3 75- 3
126	Perry disease [Neu] 💬 "Perry syndrome" 126. Perry disease × [Neu] Neuromuscular diseases	-	-	-	4 patients Age distribution💬 126. Perry disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 3 60-69 1 70-74 - 75- -
127	Frontotemporal lobar degeneration [Neu] 💬 "Frontotemporal dementia, behavioral abnormal type", "Frontotemporal dementia", "Semantic dementia" 127. Frontotemporal lobar degeneration × [Neu] Neuromuscular diseases	123 trials    | 24 / 47 / 30 / 6 💬 127. Frontotemporal lobar degeneration × Some trials have no Phase data.	107 drugs   [ 33 drugs ]	49 genes   89 pathways	1,512 patients Age distribution💬 127. Frontotemporal lobar degeneration × Age Num 0-9 - 10-19 - 20-29 1 30-39 7 40-49 17 50-59 151 60-69 614 70-74 369 75- 353
128	Bickerstaff brainstem encephalitis [Neu] 💬 128. Bickerstaff brainstem encephalitis × [Neu] Neuromuscular diseases	-	-	-	153 patients Age distribution💬 128. Bickerstaff brainstem encephalitis × Age Num 0-9 1 10-19 2 20-29 7 30-39 17 40-49 27 50-59 39 60-69 31 70-74 14 75- 15
129	Acute encephalopathy with biphasic seizures and late reduced diffusion [Neu] 💬 "AESD", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" 129. Acute encephalopathy with biphasic seizures and late reduced diffusion × [Neu] Neuromuscular diseases	1 trial    | 0 / 1 / 0 / 0 💬 129. Acute encephalopathy with biphasic seizures and late reduced diffusion × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	48 patients Age distribution💬 129. Acute encephalopathy with biphasic seizures and late reduced diffusion × Age Num 0-9 9 10-19 19 20-29 20 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
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" 130. Congenital insensitivity to pain with anhydrosis × [Neu] Neuromuscular diseases	-	-	-	45 patients Age distribution💬 130. Congenital insensitivity to pain with anhydrosis × Age Num 0-9 - 10-19 5 20-29 20 30-39 12 40-49 4 50-59 1 60-69 1 70-74 - 75- 2
131	Alexander disease [Neu] 💬 "ALXDRD", "AxD" 131. Alexander disease × [Neu] Neuromuscular diseases	4 trials    | 3 / 3 / 4 / 0 💬 131. Alexander disease × Some trials have no Phase data.	4 drugs   [ 1 drug ]	-	55 patients Age distribution💬 131. Alexander disease × Age Num 0-9 - 10-19 - 20-29 8 30-39 4 40-49 6 50-59 11 60-69 11 70-74 4 75- 11
132	Congenital supranuclear bulbar palsy [Neu] 💬 "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" 132. Congenital supranuclear bulbar palsy × [Neu] Neuromuscular diseases	-	-	-	7 patients Age distribution💬 132. Congenital supranuclear bulbar palsy × Age Num 0-9 5 10-19 2 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
133	Moebius syndrome [Neu] 💬 "Mobius syndrome", "Möbius syndrome" 133. Moebius syndrome × [Neu] Neuromuscular diseases	-	-	-	16 patients Age distribution💬 133. Moebius syndrome × Age Num 0-9 5 10-19 2 20-29 4 30-39 3 40-49 2 50-59 - 60-69 - 70-74 - 75- -
134	Septo-optic dysplasia [Eye] 💬 "De Morsier syndrome" 134. Septo-optic dysplasia × [Eye] Eye diseases	2 trials    | 0 / 0 / 1 / 0 💬 134. Septo-optic dysplasia × Some trials have no Phase data.	2 drugs   [ 1 drug ]	1 gene   3 pathways	16 patients Age distribution💬 134. Septo-optic dysplasia × Age Num 0-9 1 10-19 1 20-29 11 30-39 2 40-49 - 50-59 1 60-69 - 70-74 - 75- -
135	Aicardi syndrome [Neu] 💬 135. Aicardi syndrome × [Neu] Neuromuscular diseases	2 trials    | 0 / 2 / 1 / 0 💬 135. Aicardi syndrome × Some trials have no Phase data.	12 drugs   [ 4 drugs ]	2 genes   37 pathways	12 patients Age distribution💬 135. Aicardi syndrome × Age Num 0-9 1 10-19 3 20-29 5 30-39 2 40-49 1 50-59 - 60-69 - 70-74 - 75- -
136	Hemimegalencephaly [Neu] 💬 "Unilateral megalencephaly" 136. Hemimegalencephaly × [Neu] Neuromuscular diseases	-	-	-	27 patients Age distribution💬 136. Hemimegalencephaly × Age Num 0-9 5 10-19 5 20-29 12 30-39 2 40-49 - 50-59 1 60-69 1 70-74 1 75- -
137	Focal cortical dysplasia [Neu] 💬 "FCD" 137. Focal cortical dysplasia × [Neu] Neuromuscular diseases	14 trials    | 3 / 8 / 1 / 0 💬 137. Focal cortical dysplasia × Some trials have no Phase data.	10 drugs   [ 3 drugs ]	1 gene   49 pathways	102 patients Age distribution💬 137. Focal cortical dysplasia × Age Num 0-9 12 10-19 36 20-29 31 30-39 13 40-49 2 50-59 6 60-69 2 70-74 - 75- -
138	Nerve cell migration disorder [Neu] 💬 "Lissencephaly", "Neuronal migration defect", "Lissencephaly", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "orencephaly", "Miller-Dieker syndrome" 138. Nerve cell migration disorder × [Neu] Neuromuscular diseases	2 trials    | 0 / 2 / 0 / 0 💬 138. Nerve cell migration disorder × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	1 gene   103 pathways	95 patients Age distribution💬 138. Nerve cell migration disorder × Age Num 0-9 3 10-19 8 20-29 55 30-39 13 40-49 11 50-59 4 60-69 - 70-74 - 75- 1
139	Congenital cerebral hypomyelination [Neu] 💬 "Congenital cerebral white matter aplasia", "Congenital hypomyelinating leukodystrophy", "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" 139. Congenital cerebral hypomyelination × [Neu] Neuromuscular diseases	13 trials    | 2 / 7 / 1 / 0 💬 139. Congenital cerebral hypomyelination × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	2 genes   3 pathways	53 patients Age distribution💬 139. Congenital cerebral hypomyelination × Age Num 0-9 - 10-19 4 20-29 26 30-39 15 40-49 6 50-59 2 60-69 - 70-74 - 75- -
140	Dorabe syndrome [Neu] 💬 "Dravet syndrome" 140. Dorabe syndrome × [Neu] Neuromuscular diseases	139 trials    | 9 / 25 / 90 / 6 💬 140. Dorabe syndrome × Some trials have no Phase data.	49 drugs   [ 17 drugs ]	53 genes   67 pathways	113 patients Age distribution💬 140. Dorabe syndrome × Age Num 0-9 3 10-19 9 20-29 79 30-39 20 40-49 2 50-59 - 60-69 - 70-74 - 75- -
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" 141. Mesial temporal lobe epilepsy with hippocampal sclerosis × [Neu] Neuromuscular diseases	-	-	-	82 patients Age distribution💬 141. Mesial temporal lobe epilepsy with hippocampal sclerosis × Age Num 0-9 1 10-19 2 20-29 21 30-39 14 40-49 17 50-59 20 60-69 6 70-74 - 75- 1
142	Myoclonic absence epilepsy [Neu] 💬 "Epilepsy with myoclonic absence" 142. Myoclonic absence epilepsy × [Neu] Neuromuscular diseases	-	-	-	5 patients Age distribution💬 142. Myoclonic absence epilepsy × Age Num 0-9 - 10-19 2 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
143	Epilepsy with myoclonic-atonic seizures [Neu] 💬 "Epilepsy with myoclonic cataplexy" 143. Epilepsy with myoclonic-atonic seizures × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 1 / 0 💬 143. Epilepsy with myoclonic-atonic seizures × Some trials have no Phase data.	1 drug   [ - ]	-	17 patients Age distribution💬 143. Epilepsy with myoclonic-atonic seizures × Age Num 0-9 1 10-19 10 20-29 3 30-39 1 40-49 - 50-59 2 60-69 - 70-74 - 75- -
144	Lennox-Gastaut syndrome [Neu] 💬 144. Lennox-Gastaut syndrome × [Neu] Neuromuscular diseases	128 trials    | 2 / 3 / 61 / 1 💬 144. Lennox-Gastaut syndrome × Some trials have no Phase data.	53 drugs   [ 13 drugs ]	50 genes   62 pathways	461 patients Age distribution💬 144. Lennox-Gastaut syndrome × Age Num 0-9 - 10-19 9 20-29 363 30-39 49 40-49 20 50-59 16 60-69 3 70-74 1 75- -
145	West syndrome [Neu] 💬 "Infantile spasm", "Infantile spasms", "Infantile spasms syndrome", "Infantile epileptic spasms", "Infantile epileptic spasms syndrome" 145. West syndrome × [Neu] Neuromuscular diseases	49 trials    | 1 / 17 / 18 / 6 💬 145. West syndrome × Some trials have no Phase data.	43 drugs   [ 16 drugs ]	29 genes   28 pathways	399 patients Age distribution💬 145. West syndrome × Age Num 0-9 15 10-19 9 20-29 352 30-39 21 40-49 2 50-59 - 60-69 - 70-74 - 75- -
146	Ohtahara syndrome [Neu] 💬 "Early infantile epileptic encephalopathy with suppression burst" 146. Ohtahara syndrome × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 146. Ohtahara syndrome × Some trials have no Phase data.	1 drug   [ - ]	-	16 patients Age distribution💬 146. Ohtahara syndrome × Age Num 0-9 6 10-19 2 20-29 7 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
147	Early myoclonic encephalopathy [Neu] 💬 147. Early myoclonic encephalopathy × [Neu] Neuromuscular diseases	-	-	-	11 patients Age distribution💬 147. Early myoclonic encephalopathy × Age Num 0-9 6 10-19 1 20-29 3 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
148	Epilepsy of infancy with migrating focal seizures [Neu] 💬 "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" 148. Epilepsy of infancy with migrating focal seizures × [Neu] Neuromuscular diseases	2 trials    | 1 / 0 / 0 / 0 💬 148. Epilepsy of infancy with migrating focal seizures × Some trials have no Phase data.	2 drugs   [ - ]	-	16 patients Age distribution💬 148. Epilepsy of infancy with migrating focal seizures × Age Num 0-9 7 10-19 8 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
149	Hemiconvulsion hemiplegia epilepsy syndrome [Neu] 💬 "One side convulsions", "Hemiplegia", "Epilepsy syndrome" 149. Hemiconvulsion hemiplegia epilepsy syndrome × [Neu] Neuromuscular diseases	34 trials    | 5 / 7 / 9 / 5 💬 149. Hemiconvulsion hemiplegia epilepsy syndrome × Some trials have no Phase data.	37 drugs   [ 16 drugs ]	17 genes   30 pathways	32 patients Age distribution💬 149. Hemiconvulsion hemiplegia epilepsy syndrome × Age Num 0-9 2 10-19 4 20-29 4 30-39 2 40-49 5 50-59 7 60-69 2 70-74 4 75- 2
150	Ring chromosome 20 epilepsy syndrome [Neu] 💬 "Ring chromosome 20 syndrome" 150. Ring chromosome 20 epilepsy syndrome × [Neu] Neuromuscular diseases	-	-	-	11 patients Age distribution💬 150. Ring chromosome 20 epilepsy syndrome × Age Num 0-9 - 10-19 4 20-29 5 30-39 - 40-49 - 50-59 1 60-69 - 70-74 1 75- -
151	Rasmussen encephalitis [Neu] 💬 151. Rasmussen encephalitis × [Neu] Neuromuscular diseases	2 trials    | 0 / 1 / 1 / 0 💬 151. Rasmussen encephalitis × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	6 genes   85 pathways	54 patients Age distribution💬 151. Rasmussen encephalitis × Age Num 0-9 - 10-19 - 20-29 18 30-39 7 40-49 8 50-59 9 60-69 6 70-74 2 75- 4
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" 152. PCDH19 related syndrome × [Neu] Neuromuscular diseases	11 trials    | 0 / 4 / 5 / 0 💬 152. PCDH19 related syndrome × Some trials have no Phase data.	4 drugs   [ 1 drug ]	16 genes   8 pathways	13 patients Age distribution💬 152. PCDH19 related syndrome × Age Num 0-9 3 10-19 6 20-29 4 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
153	Acute encephalitis with refractory, repetitive partial seizures [Neu] 💬 repetitive partial seizures", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome" 153. Acute encephalitis with refractory, repetitive partial seizures × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 153. Acute encephalitis with refractory, repetitive partial seizures × Some trials have no Phase data.	1 drug   [ 1 drug ]	1 gene   11 pathways	84 patients Age distribution💬 153. Acute encephalitis with refractory, repetitive partial seizures × Age Num 0-9 - 10-19 3 20-29 43 30-39 15 40-49 12 50-59 5 60-69 4 70-74 2 75- -
154	Epilepsy with continuous spikes and waves during slow sleep [Neu] 💬 "Epileptic encephalopathy with continuous spike-and-wave during sleep" 154. Epilepsy with continuous spikes and waves during slow sleep × [Neu] Neuromuscular diseases	8 trials    | 0 / 8 / 0 / 0 💬 154. Epilepsy with continuous spikes and waves during slow sleep × Some trials have no Phase data.	2 drugs   [ - ]	-	13 patients Age distribution💬 154. Epilepsy with continuous spikes and waves during slow sleep × Age Num 0-9 1 10-19 9 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
155	Acquired aphasia with convulsive disorder [Neu] 💬 "Landau-Kleffner syndrome" 155. Acquired aphasia with convulsive disorder × [Neu] Neuromuscular diseases	1 trial    | 0 / 1 / 1 / 0 💬 155. Acquired aphasia with convulsive disorder × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	29 genes   14 pathways	4 patients Age distribution💬 155. Acquired aphasia with convulsive disorder × Age Num 0-9 1 10-19 2 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
156	Rett syndrome [Neu] 💬 156. Rett syndrome × [Neu] Neuromuscular diseases	55 trials    | 8 / 30 / 18 / 0 💬 156. Rett syndrome × Some trials have no Phase data.	51 drugs   [ 22 drugs ]	77 genes   116 pathways	136 patients Age distribution💬 156. Rett syndrome × Age Num 0-9 1 10-19 5 20-29 102 30-39 20 40-49 7 50-59 1 60-69 - 70-74 - 75- -
157	Sturge-Weber syndrome [Neu] 💬 "Síndrome de Sturge-Weber" 157. Sturge-Weber syndrome × [Neu] Neuromuscular diseases	8 trials    | 3 / 5 / 1 / 1 💬 157. Sturge-Weber syndrome × Some trials have no Phase data.	7 drugs   [ 4 drugs ]	5 genes   63 pathways	91 patients Age distribution💬 157. Sturge-Weber syndrome × Age Num 0-9 2 10-19 7 20-29 23 30-39 18 40-49 13 50-59 16 60-69 7 70-74 3 75- 2
158	Tuberous sclerosis [Neu] 💬 "Tuberous sclerosis complex", "TSC" 158. Tuberous sclerosis × [Neu] Neuromuscular diseases	129 trials    | 5 / 35 / 56 / 10 💬 158. Tuberous sclerosis × Some trials have no Phase data.	56 drugs   [ 20 drugs ]	35 genes   116 pathways	1,165 patients Age distribution💬 158. Tuberous sclerosis × Age Num 0-9 2 10-19 29 20-29 394 30-39 260 40-49 230 50-59 170 60-69 55 70-74 18 75- 7
159	Xeroderma pigmentosum [Skin] 💬 "XP" 159. Xeroderma pigmentosum × [Skin] Skin and connective tissue diseases	11 trials    | 1 / 8 / 1 / 0 💬 159. Xeroderma pigmentosum × Some trials have no Phase data.	11 drugs   [ 5 drugs ]	5 genes   16 pathways	88 patients Age distribution💬 159. Xeroderma pigmentosum × Age Num 0-9 2 10-19 1 20-29 32 30-39 12 40-49 9 50-59 3 60-69 9 70-74 7 75- 13
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", "KID 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" 160. Congenital ichthyosis × [Skin] Skin and connective tissue diseases	57 trials    | 16 / 25 / 13 / 2 💬 160. Congenital ichthyosis × Some trials have no Phase data.	68 drugs   [ 25 drugs ]	21 genes   141 pathways	108 patients Age distribution💬 160. Congenital ichthyosis × Age Num 0-9 - 10-19 4 20-29 33 30-39 17 40-49 15 50-59 22 60-69 10 70-74 3 75- 4
161	Familial benign chronic pemphigus [Skin] 💬 "Benign familial pemphigus", "Hailey-Hailey disease" 161. Familial benign chronic pemphigus × [Skin] Skin and connective tissue diseases	6 trials    | 2 / 3 / 0 / 0 💬 161. Familial benign chronic pemphigus × Some trials have no Phase data.	6 drugs   [ 3 drugs ]	2 genes   29 pathways	87 patients Age distribution💬 161. Familial benign chronic pemphigus × Age Num 0-9 - 10-19 - 20-29 1 30-39 5 40-49 15 50-59 28 60-69 22 70-74 3 75- 13
162	Pemphigoid [Skin] 💬 162. Pemphigoid × [Skin] Skin and connective tissue diseases	128 trials    | 3 / 43 / 45 / 9 💬 162. Pemphigoid × Some trials have no Phase data.	108 drugs   [ 49 drugs ]	35 genes   143 pathways	4,244 patients Age distribution💬 162. Pemphigoid × Age Num 0-9 - 10-19 2 20-29 11 30-39 26 40-49 133 50-59 427 60-69 762 70-74 675 75- 2,208
163	Idiopathic pure sudomotor failure [Skin] 💬 "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "Idiopathic pure sudomotor failure", "IPSF", "Sweat gland failure" 163. Idiopathic pure sudomotor failure × [Skin] Skin and connective tissue diseases	-	-	-	673 patients Age distribution💬 163. Idiopathic pure sudomotor failure × Age Num 0-9 1 10-19 49 20-29 169 30-39 144 40-49 141 50-59 111 60-69 41 70-74 5 75- 12
164	Oculocutaneous albinism [Eye] 💬 "Hermansky-Pudlak syndrome", "HPS", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "CHS", "Griscelli syndrome" 164. Oculocutaneous albinism × [Eye] Eye diseases	16 trials    | 2 / 7 / 1 / 0 💬 164. Oculocutaneous albinism × Some trials have no Phase data.	44 drugs   [ 27 drugs ]	30 genes   137 pathways	32 patients Age distribution💬 164. Oculocutaneous albinism × Age Num 0-9 1 10-19 - 20-29 13 30-39 3 40-49 6 50-59 6 60-69 2 70-74 - 75- 1
165	Pachydermoperiostosis [Chr] 💬 "PDP" 165. Pachydermoperiostosis × [Chr] Chromosomal and gene abnormalities	-	-	-	24 patients Age distribution💬 165. Pachydermoperiostosis × Age Num 0-9 - 10-19 - 20-29 5 30-39 10 40-49 2 50-59 4 60-69 1 70-74 2 75- -
166	Pseudoxanthoma elasticum [Skin] 💬 "PXE" 166. Pseudoxanthoma elasticum × [Skin] Skin and connective tissue diseases	19 trials    | 4 / 14 / 3 / 1 💬 166. Pseudoxanthoma elasticum × Some trials have no Phase data.	21 drugs   [ 7 drugs ]	5 genes   26 pathways	160 patients Age distribution💬 166. Pseudoxanthoma elasticum × Age Num 0-9 - 10-19 - 20-29 2 30-39 3 40-49 8 50-59 30 60-69 60 70-74 29 75- 28
167	Marfan syndrome [Card] 💬 "Loeys-Dietz syndrome", "LDS" 167. Marfan syndrome × [Card] Cardiovascular diseases	23 trials    | 0 / 4 / 11 / 2 💬 167. Marfan syndrome × Some trials have no Phase data.	31 drugs   [ 8 drugs ]	8 genes   51 pathways	1,411 patients Age distribution💬 167. Marfan syndrome × Age Num 0-9 - 10-19 26 20-29 239 30-39 281 40-49 342 50-59 304 60-69 157 70-74 40 75- 22
168	Ehlers-Danlos syndrome [Chr] 💬 "EDS", "Classic EDS", "Classical EDS", "cEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Cardiac-valvular Ehlers-Danlos syndrome", "cvEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Brittle cornea syndrome", "BCS", "Spondylodysplastic Ehlers-Danlos Syndrome", "spEDS", "Musculocontractural Ehlers-Danlos Syndrome", "mEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS", "Myopathic Ehlers-Danlos Syndrome", "mEDS", "Periodontal Ehlers-Danlos Syndrome", "pEDS" 168. Ehlers-Danlos syndrome × [Chr] Chromosomal and gene abnormalities	16 trials    | 1 / 2 / 7 / 3 💬 168. Ehlers-Danlos syndrome × Some trials have no Phase data.	22 drugs   [ 10 drugs ]	11 genes   103 pathways	351 patients Age distribution💬 168. Ehlers-Danlos syndrome × Age Num 0-9 - 10-19 9 20-29 87 30-39 71 40-49 82 50-59 60 60-69 32 70-74 7 75- 3
169	Menkes disease [Met] 💬 169. Menkes disease × [Met] Metabolic diseases	7 trials    | 2 / 2 / 1 / 0 💬 169. Menkes disease × Some trials have no Phase data.	7 drugs   [ 4 drugs ]	9 genes   16 pathways	2 patients Age distribution💬 169. Menkes disease × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
170	Occipital horn syndrome [Chr] 💬 170. Occipital horn syndrome × [Chr] Chromosomal and gene abnormalities	2 trials    | 0 / 0 / 0 / 0 💬 170. Occipital horn syndrome × Some trials have no Phase data.	2 drugs   [ 3 drugs ]	9 genes   16 pathways	2 patients Age distribution💬 170. Occipital horn syndrome × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 1 50-59 - 60-69 - 70-74 - 75- -
171	Wilson disease [Met] 💬 "WD" 171. Wilson disease × [Met] Metabolic diseases	86 trials    | 13 / 22 / 30 / 9 💬 171. Wilson disease × Some trials have no Phase data.	68 drugs   [ 16 drugs ]	7 genes   33 pathways	789 patients Age distribution💬 171. Wilson disease × Age Num 0-9 - 10-19 5 20-29 202 30-39 172 40-49 178 50-59 155 60-69 61 70-74 12 75- 4
172	Hypophosphatasia [Bone] 💬 172. Hypophosphatasia × [Bone] Bone and joint diseases	44 trials    | 4 / 21 / 6 / 4 💬 172. Hypophosphatasia × Some trials have no Phase data.	29 drugs   [ 8 drugs ]	7 genes   17 pathways	71 patients Age distribution💬 172. Hypophosphatasia × Age Num 0-9 1 10-19 3 20-29 11 30-39 9 40-49 20 50-59 13 60-69 6 70-74 1 75- 7
173	VATER syndrome [Chr] 💬 "VATER association", "VACTERL association" 173. VATER syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	17 patients Age distribution💬 173. VATER syndrome × Age Num 0-9 1 10-19 4 20-29 9 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
174	Nasu-Hakola disease [Chr] 💬 "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" 174. Nasu-Hakola disease × [Chr] Chromosomal and gene abnormalities	-	-	-	4 patients Age distribution💬 174. Nasu-Hakola disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 2 50-59 2 60-69 - 70-74 - 75- -
175	Weaver syndrome [Chr] 💬 175. Weaver syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	-
176	Coffin-Lowry syndrome [Chr] 💬 176. Coffin-Lowry syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	6 patients Age distribution💬 176. Coffin-Lowry syndrome × Age Num 0-9 - 10-19 1 20-29 3 30-39 1 40-49 1 50-59 - 60-69 - 70-74 - 75- -
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" 177. Joubert syndrome related disorder × [Neu] Neuromuscular diseases	1 trial    | 0 / 0 / 0 / 0 💬 177. Joubert syndrome related disorder × Some trials have no Phase data.	1 drug   [ - ]	-	27 patients Age distribution💬 177. Joubert syndrome related disorder × Age Num 0-9 2 10-19 4 20-29 17 30-39 2 40-49 1 50-59 1 60-69 - 70-74 - 75- -
178	Mowat-Wilson syndrome [Chr] 💬 178. Mowat-Wilson syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	18 patients Age distribution💬 178. Mowat-Wilson syndrome × Age Num 0-9 2 10-19 5 20-29 10 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
179	Williams syndrome [Card] 💬 179. Williams syndrome × [Card] Cardiovascular diseases	7 trials    | 0 / 1 / 2 / 2 💬 179. Williams syndrome × Some trials have no Phase data.	11 drugs   [ 7 drugs ]	8 genes   35 pathways	62 patients Age distribution💬 179. Williams syndrome × Age Num 0-9 - 10-19 4 20-29 38 30-39 10 40-49 7 50-59 3 60-69 - 70-74 - 75- -
180	ATR-X syndrome [Chr] 💬 "Alpha-thalassemia mental retardation syndrome", "X-linked α-thalassemia/intellectual disability syndrome" 180. ATR-X syndrome × [Chr] Chromosomal and gene abnormalities	1 trial    | 0 / 1 / 0 / 0 💬 180. ATR-X syndrome × Some trials have no Phase data.	2 drugs   [ 1 drug ]	-	7 patients Age distribution💬 180. ATR-X syndrome × Age Num 0-9 - 10-19 - 20-29 6 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
181	Crouzon syndrome [Hear] 💬 181. Crouzon syndrome × [Hear] Hearing and balance disorders	-	-	-	22 patients Age distribution💬 181. Crouzon syndrome × Age Num 0-9 - 10-19 - 20-29 14 30-39 3 40-49 1 50-59 - 60-69 4 70-74 - 75- -
182	Apert syndrome [Hear] 💬 182. Apert syndrome × [Hear] Hearing and balance disorders	-	-	-	10 patients Age distribution💬 182. Apert syndrome × Age Num 0-9 1 10-19 - 20-29 7 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
183	Pfeiffer syndrome [Hear] 💬 183. Pfeiffer syndrome × [Hear] Hearing and balance disorders	-	-	-	10 patients Age distribution💬 183. Pfeiffer syndrome × Age Num 0-9 1 10-19 1 20-29 7 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
184	Antley-Bixler syndrome [Hear] 💬 184. Antley-Bixler syndrome × [Hear] Hearing and balance disorders	-	-	-	3 patients Age distribution💬 184. Antley-Bixler syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
185	Coffin-Siris syndrome [Chr] 💬 185. Coffin-Siris syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	5 patients Age distribution💬 185. Coffin-Siris syndrome × Age Num 0-9 - 10-19 2 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
186	Rothmund-Thomson syndrome [Chr] 💬 "RAPADILINO syndrome", "Baller-Gerold syndrome" 186. Rothmund-Thomson syndrome × [Chr] Chromosomal and gene abnormalities	1 trial    | 0 / 0 / 0 / 0 💬 186. Rothmund-Thomson syndrome × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	4 patients Age distribution💬 186. Rothmund-Thomson syndrome × Age Num 0-9 1 10-19 2 20-29 - 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
187	Kabuki syndrome [Chr] 💬 187. Kabuki syndrome × [Chr] Chromosomal and gene abnormalities	4 trials    | 0 / 0 / 0 / 0 💬 187. Kabuki syndrome × Some trials have no Phase data.	6 drugs   [ 2 drugs ]	3 genes   17 pathways	23 patients Age distribution💬 187. Kabuki syndrome × Age Num 0-9 1 10-19 - 20-29 15 30-39 2 40-49 1 50-59 3 60-69 1 70-74 - 75- -
188	Polysplenia syndrome [Card] 💬 188. Polysplenia syndrome × [Card] Cardiovascular diseases	-	-	-	63 patients Age distribution💬 188. Polysplenia syndrome × Age Num 0-9 1 10-19 2 20-29 38 30-39 15 40-49 1 50-59 3 60-69 2 70-74 - 75- 1
189	Asplenia syndrome [Card] 💬 189. Asplenia syndrome × [Card] Cardiovascular diseases	-	-	-	104 patients Age distribution💬 189. Asplenia syndrome × Age Num 0-9 - 10-19 1 20-29 82 30-39 17 40-49 4 50-59 - 60-69 - 70-74 - 75- -
190	Branchio-oto-renal syndrome [Hear] 💬 "BOR syndrome" 190. Branchio-oto-renal syndrome × [Hear] Hearing and balance disorders	-	-	-	7 patients Age distribution💬 190. Branchio-oto-renal syndrome × Age Num 0-9 - 10-19 2 20-29 2 30-39 2 40-49 - 50-59 1 60-69 - 70-74 - 75- -
191	Werner syndrome [Endo] 💬 191. Werner syndrome × [Endo] Endocrine diseases	4 trials    | 2 / 2 / 0 / 0 💬 191. Werner syndrome × Some trials have no Phase data.	3 drugs   [ 4 drugs ]	1 gene   6 pathways	89 patients Age distribution💬 191. Werner syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 16 50-59 53 60-69 15 70-74 1 75- -
192	Cockayne syndrome [Chr] 💬 "CS" 192. Cockayne syndrome × [Chr] Chromosomal and gene abnormalities	4 trials    | 1 / 1 / 0 / 0 💬 192. Cockayne syndrome × Some trials have no Phase data.	5 drugs   [ 3 drugs ]	1 gene   49 pathways	6 patients Age distribution💬 192. Cockayne syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 1 50-59 2 60-69 - 70-74 - 75- -
193	Prader-Willi syndrome [Endo] 💬 193. Prader-Willi syndrome × [Endo] Endocrine diseases	128 trials    | 7 / 47 / 54 / 10 💬 193. Prader-Willi syndrome × Some trials have no Phase data.	94 drugs   [ 25 drugs ]	51 genes   102 pathways	238 patients Age distribution💬 193. Prader-Willi syndrome × Age Num 0-9 1 10-19 20 20-29 89 30-39 68 40-49 46 50-59 12 60-69 2 70-74 - 75- -
194	Sotos syndrome [Chr] 💬 194. Sotos syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	20 patients Age distribution💬 194. Sotos syndrome × Age Num 0-9 - 10-19 1 20-29 13 30-39 3 40-49 2 50-59 1 60-69 - 70-74 - 75- -
195	Noonan syndrome [Chr] 💬 195. Noonan syndrome × [Chr] Chromosomal and gene abnormalities	38 trials    | 0 / 2 / 24 / 1 💬 195. Noonan syndrome × Some trials have no Phase data.	27 drugs   [ 7 drugs ]	5 genes   96 pathways	56 patients Age distribution💬 195. Noonan syndrome × Age Num 0-9 1 10-19 4 20-29 23 30-39 10 40-49 10 50-59 7 60-69 1 70-74 - 75- -
196	Young-Simpson syndrome [Chr] 💬 196. Young-Simpson syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	-
197	1p36 deletion syndrome [Chr] 💬 197. 1p36 deletion syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	11 patients Age distribution💬 197. 1p36 deletion syndrome × Age Num 0-9 3 10-19 5 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
198	4p deletion syndrome [Chr] 💬 "4p-syndrome" 198. 4p deletion syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	10 patients Age distribution💬 198. 4p deletion syndrome × Age Num 0-9 - 10-19 - 20-29 10 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
199	5p deletion syndrome [Chr] 💬 "5p-syndrome" 199. 5p deletion syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	10 patients Age distribution💬 199. 5p deletion syndrome × Age Num 0-9 1 10-19 - 20-29 7 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
200	Paternal uniparental disomy of chromosome 14 [Chr] 💬 "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" 200. Paternal uniparental disomy of chromosome 14 × [Chr] Chromosomal and gene abnormalities	-	-	-	5 patients Age distribution💬 200. Paternal uniparental disomy of chromosome 14 × Age Num 0-9 4 10-19 1 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
201	Angelman syndrome [Neu] 💬 201. Angelman syndrome × [Neu] Neuromuscular diseases	33 trials    | 13 / 12 / 8 / 0 💬 201. Angelman syndrome × Some trials have no Phase data.	32 drugs   [ 13 drugs ]	22 genes   21 pathways	38 patients Age distribution💬 201. Angelman syndrome × Age Num 0-9 - 10-19 3 20-29 20 30-39 13 40-49 2 50-59 - 60-69 - 70-74 - 75- -
202	Smith-Magenis syndrome [Chr] 💬 202. Smith-Magenis syndrome × [Chr] Chromosomal and gene abnormalities	9 trials    | 2 / 4 / 1 / 0 💬 202. Smith-Magenis syndrome × Some trials have no Phase data.	8 drugs   [ 3 drugs ]	3 genes   4 pathways	4 patients Age distribution💬 202. Smith-Magenis syndrome × Age Num 0-9 - 10-19 1 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
203	22q11.2 deletion syndrome [Card] 💬 203. 22q11.2 deletion syndrome × [Card] Cardiovascular diseases	5 trials    | 2 / 1 / 1 / 0 💬 203. 22q11.2 deletion syndrome × Some trials have no Phase data.	7 drugs   [ 1 drug ]	14 genes   24 pathways	95 patients Age distribution💬 203. 22q11.2 deletion syndrome × Age Num 0-9 - 10-19 6 20-29 54 30-39 19 40-49 9 50-59 6 60-69 1 70-74 - 75- -
204	Emanuel syndrome [Chr] 💬 "Derivative 22 syndrome", "Partial trisomy (11:22)" 204. Emanuel syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	7 patients Age distribution💬 204. Emanuel syndrome × Age Num 0-9 3 10-19 1 20-29 2 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
205	Fragile X syndrome related disease [Chr] 💬 "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome" 205. Fragile X syndrome related disease × [Chr] Chromosomal and gene abnormalities	5 trials    | 0 / 2 / 1 / 0 💬 205. Fragile X syndrome related disease × Some trials have no Phase data.	11 drugs   [ 7 drugs ]	25 genes   31 pathways	14 patients Age distribution💬 205. Fragile X syndrome related disease × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 - 50-59 - 60-69 1 70-74 6 75- 5
206	Fragile X syndrome [Chr] 💬 206. Fragile X syndrome × [Chr] Chromosomal and gene abnormalities	118 trials    | 13 / 55 / 13 / 3 💬 206. Fragile X syndrome × Some trials have no Phase data.	75 drugs   [ 30 drugs ]	58 genes   83 pathways	1 patient Age distribution💬 206. Fragile X syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
207	Persistent truncus arteriosus [Card] 💬 "Truncus arteriosus communis" 207. Persistent truncus arteriosus × [Card] Cardiovascular diseases	-	-	-	50 patients Age distribution💬 207. Persistent truncus arteriosus × Age Num 0-9 - 10-19 - 20-29 36 30-39 11 40-49 2 50-59 1 60-69 - 70-74 - 75- -
208	Corrected transposition of great arteries [Card] 💬 208. Corrected transposition of great arteries × [Card] Cardiovascular diseases	-	-	-	271 patients Age distribution💬 208. Corrected transposition of great arteries × Age Num 0-9 1 10-19 4 20-29 113 30-39 49 40-49 44 50-59 31 60-69 17 70-74 5 75- 7
209	Complete transposition of great vessel [Card] 💬 "Complete transposition of great arteries", "Complete TGA" 209. Complete transposition of great vessel × [Card] Cardiovascular diseases	-	-	-	379 patients Age distribution💬 209. Complete transposition of great vessel × Age Num 0-9 1 10-19 5 20-29 232 30-39 73 40-49 54 50-59 13 60-69 1 70-74 - 75- -
210	Single Ventricle [Card] 💬 "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" 210. Single Ventricle × [Card] Cardiovascular diseases	56 trials    | 11 / 15 / 22 / 4 💬 210. Single Ventricle × Some trials have no Phase data.	49 drugs   [ 25 drugs ]	35 genes   77 pathways	620 patients Age distribution💬 210. Single Ventricle × Age Num 0-9 - 10-19 11 20-29 445 30-39 92 40-49 57 50-59 14 60-69 - 70-74 1 75- -
211	Hypoplastic left heart syndrome [Card] 💬 "HLHS" 211. Hypoplastic left heart syndrome × [Card] Cardiovascular diseases	23 trials    | 10 / 7 / 1 / 0 💬 211. Hypoplastic left heart syndrome × Some trials have no Phase data.	29 drugs   [ 11 drugs ]	5 genes   13 pathways	107 patients Age distribution💬 211. Hypoplastic left heart syndrome × Age Num 0-9 1 10-19 2 20-29 101 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- -
212	Tricuspid atresia [Card] 💬 "TA" 212. Tricuspid atresia × [Card] Cardiovascular diseases	5 trials    | 1 / 0 / 0 / 0 💬 212. Tricuspid atresia × Some trials have no Phase data.	5 drugs   [ 6 drugs ]	8 genes   13 pathways	248 patients Age distribution💬 212. Tricuspid atresia × Age Num 0-9 1 10-19 2 20-29 160 30-39 53 40-49 22 50-59 8 60-69 2 70-74 - 75- -
213	Pulmonary atresia without ventricular septum defect [Card] 💬 "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" 213. Pulmonary atresia without ventricular septum defect × [Card] Cardiovascular diseases	-	-	-	224 patients Age distribution💬 213. Pulmonary atresia without ventricular septum defect × Age Num 0-9 1 10-19 8 20-29 159 30-39 40 40-49 13 50-59 3 60-69 - 70-74 - 75- -
214	Pulmonary atresia with ventricular septum defect [Card] 💬 "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia" 214. Pulmonary atresia with ventricular septum defect × [Card] Cardiovascular diseases	3 trials    | 0 / 0 / 0 / 0 💬 214. Pulmonary atresia with ventricular septum defect × Some trials have no Phase data.	5 drugs   [ 6 drugs ]	-	173 patients Age distribution💬 214. Pulmonary atresia with ventricular septum defect × Age Num 0-9 - 10-19 5 20-29 119 30-39 32 40-49 13 50-59 2 60-69 2 70-74 - 75- -
215	Tetralogy of Fallot [Card] 💬 "Fallot tetralogy" 215. Tetralogy of Fallot × [Card] Cardiovascular diseases	24 trials    | 3 / 5 / 3 / 1 💬 215. Tetralogy of Fallot × Some trials have no Phase data.	32 drugs   [ 17 drugs ]	15 genes   48 pathways	995 patients Age distribution💬 215. Tetralogy of Fallot × Age Num 0-9 3 10-19 25 20-29 481 30-39 171 40-49 146 50-59 110 60-69 45 70-74 9 75- 5
216	Double outlet right ventricle [Card] 💬 216. Double outlet right ventricle × [Card] Cardiovascular diseases	1 trial    | 0 / 0 / 0 / 0 💬 216. Double outlet right ventricle × Some trials have no Phase data.	7 drugs   [ 1 drug ]	3 genes   14 pathways	404 patients Age distribution💬 216. Double outlet right ventricle × Age Num 0-9 5 10-19 6 20-29 302 30-39 62 40-49 21 50-59 5 60-69 2 70-74 1 75- -
217	Ebstein disease [Card] 💬 "Ebstein malformation" 217. Ebstein disease × [Card] Cardiovascular diseases	-	-	-	158 patients Age distribution💬 217. Ebstein disease × Age Num 0-9 1 10-19 3 20-29 51 30-39 18 40-49 19 50-59 23 60-69 25 70-74 7 75- 11
218	Alport syndrome [Kid] 💬 218. Alport syndrome × [Kid] Kidney and urinary diseases	41 trials    | 3 / 19 / 9 / 1 💬 218. Alport syndrome × Some trials have no Phase data.	32 drugs   [ 19 drugs ]	8 genes   44 pathways	326 patients Age distribution💬 218. Alport syndrome × Age Num 0-9 - 10-19 - 20-29 86 30-39 46 40-49 65 50-59 67 60-69 48 70-74 9 75- 5
219	Galloway-Mowat syndrome [Kid] 💬 219. Galloway-Mowat syndrome × [Kid] Kidney and urinary diseases	-	-	-	2 patients Age distribution💬 219. Galloway-Mowat syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
220	Rapidly progressive glomerulonephritis [Kid] 💬 220. Rapidly progressive glomerulonephritis × [Kid] Kidney and urinary diseases	4 trials    | 0 / 1 / 2 / 0 💬 220. Rapidly progressive glomerulonephritis × Some trials have no Phase data.	9 drugs   [ 5 drugs ]	3 genes   14 pathways	1,441 patients Age distribution💬 220. Rapidly progressive glomerulonephritis × Age Num 0-9 - 10-19 1 20-29 24 30-39 18 40-49 39 50-59 121 60-69 216 70-74 251 75- 771
221	Anti-glomerular basement membrane disease [Kid] 💬 "Goodpasture syndrome" 221. Anti-glomerular basement membrane disease × [Kid] Kidney and urinary diseases	9 trials    | 0 / 3 / 1 / 0 💬 221. Anti-glomerular basement membrane disease × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	2 genes   20 pathways	458 patients Age distribution💬 221. Anti-glomerular basement membrane disease × Age Num 0-9 - 10-19 1 20-29 10 30-39 11 40-49 16 50-59 58 60-69 83 70-74 78 75- 201
222	Primary nephrotic syndrome [Kid] 💬 "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN" 222. Primary nephrotic syndrome × [Kid] Kidney and urinary diseases	382 trials    | 32 / 132 / 80 / 36 💬 222. Primary nephrotic syndrome × Some trials have no Phase data.	278 drugs   [ 98 drugs ]	73 genes   197 pathways	14,331 patients Age distribution💬 222. Primary nephrotic syndrome × Age Num 0-9 2 10-19 70 20-29 1,819 30-39 1,561 40-49 1,847 50-59 2,318 60-69 2,228 70-74 1,491 75- 2,995
223	Primary membranoproliferative glomerulonephritis [Kid] 💬 "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III" 223. Primary membranoproliferative glomerulonephritis × [Kid] Kidney and urinary diseases	-	-	-	440 patients Age distribution💬 223. Primary membranoproliferative glomerulonephritis × Age Num 0-9 - 10-19 3 20-29 74 30-39 42 40-49 44 50-59 77 60-69 72 70-74 45 75- 83
224	Purpura nephritis [Kid] 💬 "Henoch-Schönlein purpura nephritis", "HSPN" 224. Purpura nephritis × [Kid] Kidney and urinary diseases	16 trials    | 1 / 3 / 0 / 4 💬 224. Purpura nephritis × Some trials have no Phase data.	32 drugs   [ 21 drugs ]	15 genes   56 pathways	1,237 patients Age distribution💬 224. Purpura nephritis × Age Num 0-9 - 10-19 9 20-29 160 30-39 128 40-49 214 50-59 200 60-69 190 70-74 105 75- 231
225	Congenital nephrogenic diabetes insipidus [Kid] 💬 "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" 225. Congenital nephrogenic diabetes insipidus × [Kid] Kidney and urinary diseases	17 trials    | 2 / 5 / 0 / 2 💬 225. Congenital nephrogenic diabetes insipidus × Some trials have no Phase data.	40 drugs   [ 19 drugs ]	33 genes   67 pathways	59 patients Age distribution💬 225. Congenital nephrogenic diabetes insipidus × Age Num 0-9 - 10-19 2 20-29 27 30-39 10 40-49 8 50-59 5 60-69 4 70-74 1 75- 2
226	Interstitial cystitis with Hunners ulcer [Kid] 💬 "Interstitial cystitis" 226. Interstitial cystitis with Hunners ulcer × [Kid] Kidney and urinary diseases	163 trials    | 12 / 63 / 26 / 9 💬 226. Interstitial cystitis with Hunners ulcer × Some trials have no Phase data.	158 drugs   [ 58 drugs ]	79 genes   142 pathways	1,161 patients Age distribution💬 226. Interstitial cystitis with Hunners ulcer × Age Num 0-9 - 10-19 - 20-29 12 30-39 23 40-49 80 50-59 169 60-69 279 70-74 187 75- 411
227	Osler disease [Chr] 💬 "Hereditary hemorrhagic telangiectasia", "HHT", "Osler-Weber-Rendu disease" 227. Osler disease × [Chr] Chromosomal and gene abnormalities	57 trials    | 7 / 33 / 12 / 3 💬 227. Osler disease × Some trials have no Phase data.	60 drugs   [ 20 drugs ]	25 genes   151 pathways	1,047 patients Age distribution💬 227. Osler disease × Age Num 0-9 1 10-19 11 20-29 68 30-39 95 40-49 148 50-59 243 60-69 244 70-74 75 75- 162
228	Bronchiolitis obliterans [Resp] 💬 "Obliterating bronchiolitis" 228. Bronchiolitis obliterans × [Resp] Respiratory diseases	108 trials    | 10 / 37 / 38 / 8 💬 228. Bronchiolitis obliterans × Some trials have no Phase data.	95 drugs   [ 30 drugs ]	34 genes   158 pathways	43 patients Age distribution💬 228. Bronchiolitis obliterans × Age Num 0-9 - 10-19 - 20-29 12 30-39 5 40-49 5 50-59 5 60-69 7 70-74 5 75- 4
229	Autoimmune pulmonary alveolar proteinosis [Resp] 💬 "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Alveolar proteinosis" 229. Autoimmune pulmonary alveolar proteinosis × [Resp] Respiratory diseases	46 trials    | 6 / 18 / 27 / 0 💬 229. Autoimmune pulmonary alveolar proteinosis × Some trials have no Phase data.	23 drugs   [ 7 drugs ]	3 genes   15 pathways	328 patients Age distribution💬 229. Autoimmune pulmonary alveolar proteinosis × Age Num 0-9 - 10-19 2 20-29 10 30-39 8 40-49 26 50-59 69 60-69 84 70-74 47 75- 82
230	Alveolar hypoventilation syndrome [Resp] 💬 "AHS", "Hypoventilation syndrome" 230. Alveolar hypoventilation syndrome × [Resp] Respiratory diseases	9 trials    | 0 / 5 / 2 / 0 💬 230. Alveolar hypoventilation syndrome × Some trials have no Phase data.	13 drugs   [ 6 drugs ]	17 genes   27 pathways	191 patients Age distribution💬 230. Alveolar hypoventilation syndrome × Age Num 0-9 3 10-19 1 20-29 47 30-39 20 40-49 18 50-59 44 60-69 30 70-74 11 75- 17
231	Alpha-1-antitrypsin deficiency [Resp] 💬 "AATD" 231. Alpha-1-antitrypsin deficiency × [Resp] Respiratory diseases	107 trials    | 18 / 64 / 29 / 1 💬 231. Alpha-1-antitrypsin deficiency × Some trials have no Phase data.	88 drugs   [ 17 drugs ]	36 genes   50 pathways	16 patients Age distribution💬 231. Alpha-1-antitrypsin deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 3 40-49 2 50-59 4 60-69 4 70-74 1 75- 2
232	Carney complex [Endo] 💬 "CNC" 232. Carney complex × [Endo] Endocrine diseases	2 trials    | 0 / 1 / 0 / 0 💬 232. Carney complex × Some trials have no Phase data.	4 drugs   [ 1 drug ]	1 gene   28 pathways	26 patients Age distribution💬 232. Carney complex × Age Num 0-9 - 10-19 - 20-29 7 30-39 7 40-49 1 50-59 7 60-69 3 70-74 - 75- 1
233	Wolfram syndrome [Endo] 💬 "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" 233. Wolfram syndrome × [Endo] Endocrine diseases	12 trials    | 1 / 11 / 1 / 0 💬 233. Wolfram syndrome × Some trials have no Phase data.	14 drugs   [ 6 drugs ]	3 genes   6 pathways	16 patients Age distribution💬 233. Wolfram syndrome × Age Num 0-9 - 10-19 2 20-29 3 30-39 2 40-49 3 50-59 4 60-69 1 70-74 1 75- -
234	Peroxisomal disease (except Adrenoleukodystrophy) [Met] 💬 "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS", "Peroxisome biogenesis disorder", "PBD", "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", "Primary hyperoxaluria", "Acatalasemia", "Acatalasia", "Takahara disease" 234. Peroxisomal disease (except Adrenoleukodystrophy) × [Met] Metabolic diseases	115 trials    | 20 / 42 / 44 / 0 💬 234. Peroxisomal disease (except Adrenoleukodystrophy) × Some trials have no Phase data.	59 drugs   [ 20 drugs ]	15 genes   50 pathways	3 patients Age distribution💬 234. Peroxisomal disease (except Adrenoleukodystrophy) × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
235	Hypoparathyroidism [Endo] 💬 "Accessory thyroid hypergasia disease" 235. Hypoparathyroidism × [Endo] Endocrine diseases	100 trials    | 10 / 24 / 38 / 18 💬 235. Hypoparathyroidism × Some trials have no Phase data.	103 drugs   [ 27 drugs ]	5 genes   7 pathways	352 patients Age distribution💬 235. Hypoparathyroidism × Age Num 0-9 1 10-19 1 20-29 64 30-39 55 40-49 70 50-59 75 60-69 52 70-74 14 75- 20
236	Pseudohypoparathyroidism [Endo] 💬 "PHP" 236. Pseudohypoparathyroidism × [Endo] Endocrine diseases	5 trials    | 0 / 4 / 0 / 0 💬 236. Pseudohypoparathyroidism × Some trials have no Phase data.	3 drugs   [ 1 drug ]	18 genes   23 pathways	133 patients Age distribution💬 236. Pseudohypoparathyroidism × Age Num 0-9 - 10-19 1 20-29 69 30-39 21 40-49 19 50-59 12 60-69 5 70-74 3 75- 3
237	ACTH unresponsiveness [Endo] 💬 "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" 237. ACTH unresponsiveness × [Endo] Endocrine diseases	-	-	-	20 patients Age distribution💬 237. ACTH unresponsiveness × Age Num 0-9 - 10-19 - 20-29 8 30-39 6 40-49 4 50-59 2 60-69 - 70-74 - 75- -
238	Vitamin D-resistant rickets [Endo] 💬 "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Vitamin D-resistant rickets", "VDRR", "Hypophosphatemic rickets", "Vitamin D-resistant osteomalacia", "VDRO", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" 238. Vitamin D-resistant rickets × [Endo] Endocrine diseases	32 trials    | 6 / 7 / 8 / 4 💬 238. Vitamin D-resistant rickets × Some trials have no Phase data.	20 drugs   [ 11 drugs ]	5 genes   23 pathways	624 patients Age distribution💬 238. Vitamin D-resistant rickets × Age Num 0-9 - 10-19 6 20-29 118 30-39 74 40-49 91 50-59 144 60-69 98 70-74 34 75- 59
239	Vitamin D-dependent rickets [Endo] 💬 "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1A", "VDDR1A", "Vitamin D-dependent rickets type 2", "VDDR2", "Vitamin D-dependent rickets type 1B", "VDDR1B", "Vitamin D-dependent rickets type 3", "VDDR3" 239. Vitamin D-dependent rickets × [Endo] Endocrine diseases	-	-	-	6 patients Age distribution💬 239. Vitamin D-dependent rickets × Age Num 0-9 - 10-19 - 20-29 2 30-39 2 40-49 - 50-59 1 60-69 1 70-74 - 75- -
240	Phenylketonuria [Met] 💬 "PKU", "Hyperphenylalaninemia", "HPA", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" 240. Phenylketonuria × [Met] Metabolic diseases	173 trials    | 19 / 26 / 50 / 17 💬 240. Phenylketonuria × Some trials have no Phase data.	95 drugs   [ 13 drugs ]	1 gene   3 pathways	314 patients Age distribution💬 240. Phenylketonuria × Age Num 0-9 - 10-19 3 20-29 130 30-39 92 40-49 56 50-59 26 60-69 6 70-74 1 75- -
241	Hypertyrosinemia type I [Met] 💬 "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency" 241. Hypertyrosinemia type I × [Met] Metabolic diseases	15 trials    | 4 / 1 / 1 / 1 💬 241. Hypertyrosinemia type I × Some trials have no Phase data.	6 drugs   [ 1 drug ]	1 gene   3 pathways	3 patients Age distribution💬 241. Hypertyrosinemia type I × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
242	Hypertyrosinemia type II [Met] 💬 "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" 242. Hypertyrosinemia type II × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 242. Hypertyrosinemia type II × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
243	Hypertyrosinemia type III [Met] 💬 "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" 243. Hypertyrosinemia type III × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 243. Hypertyrosinemia type III × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
244	Maple syrup urine disease [Met] 💬 "MSUD" 244. Maple syrup urine disease × [Met] Metabolic diseases	3 trials    | 0 / 1 / 1 / 0 💬 244. Maple syrup urine disease × Some trials have no Phase data.	4 drugs   [ 3 drugs ]	-	18 patients Age distribution💬 244. Maple syrup urine disease × Age Num 0-9 - 10-19 - 20-29 6 30-39 7 40-49 5 50-59 - 60-69 - 70-74 - 75- -
245	Propionic acidemia [Met] 💬 245. Propionic acidemia × [Met] Metabolic diseases	15 trials    | 5 / 8 / 1 / 0 💬 245. Propionic acidemia × Some trials have no Phase data.	13 drugs   [ 6 drugs ]	1 gene   3 pathways	20 patients Age distribution💬 245. Propionic acidemia × Age Num 0-9 - 10-19 - 20-29 15 30-39 3 40-49 2 50-59 - 60-69 - 70-74 - 75- -
246	Methylmalonic acidemia [Met] 💬 "MMA" 246. Methylmalonic acidemia × [Met] Metabolic diseases	28 trials    | 10 / 14 / 0 / 1 💬 246. Methylmalonic acidemia × Some trials have no Phase data.	25 drugs   [ 9 drugs ]	18 genes   26 pathways	32 patients Age distribution💬 246. Methylmalonic acidemia × Age Num 0-9 - 10-19 - 20-29 20 30-39 7 40-49 5 50-59 - 60-69 - 70-74 - 75- -
247	Isovaleric acidemia [Met] 💬 "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" 247. Isovaleric acidemia × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 247. Isovaleric acidemia × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	4 patients Age distribution💬 247. Isovaleric acidemia × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 1 50-59 - 60-69 - 70-74 - 75- -
248	Glucose transporter type 1 deficiency [Met] 💬 "GLUT1 deficiency" 248. Glucose transporter type 1 deficiency × [Met] Metabolic diseases	29 trials    | 3 / 17 / 5 / 0 💬 248. Glucose transporter type 1 deficiency × Some trials have no Phase data.	8 drugs   [ 1 drug ]	-	25 patients Age distribution💬 248. Glucose transporter type 1 deficiency × Age Num 0-9 - 10-19 2 20-29 19 30-39 2 40-49 1 50-59 1 60-69 - 70-74 - 75- -
249	Glutaric acidemia type 1 [Met] 💬 249. Glutaric acidemia type 1 × [Met] Metabolic diseases	-	-	-	9 patients Age distribution💬 249. Glutaric acidemia type 1 × Age Num 0-9 - 10-19 - 20-29 8 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
250	Glutaric acidemia type 2 [Met] 💬 "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" 250. Glutaric acidemia type 2 × [Met] Metabolic diseases	-	-	-	14 patients Age distribution💬 250. Glutaric acidemia type 2 × Age Num 0-9 2 10-19 - 20-29 4 30-39 3 40-49 - 50-59 2 60-69 1 70-74 - 75- 2
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" 251. Urea cycle disorder × [Met] Metabolic diseases	68 trials    | 27 / 36 / 8 / 3 💬 251. Urea cycle disorder × Some trials have no Phase data.	50 drugs   [ 19 drugs ]	2 genes   4 pathways	117 patients Age distribution💬 251. Urea cycle disorder × Age Num 0-9 - 10-19 1 20-29 66 30-39 19 40-49 18 50-59 7 60-69 4 70-74 - 75- 2
252	Lysinuric protein intolerance [Met] 💬 252. Lysinuric protein intolerance × [Met] Metabolic diseases	-	-	-	26 patients Age distribution💬 252. Lysinuric protein intolerance × Age Num 0-9 - 10-19 - 20-29 7 30-39 6 40-49 6 50-59 7 60-69 - 70-74 - 75- -
253	Congenital folate malabsorption [Met] 💬 "Hereditary folate malabsorption", "Folate malabsorption" 253. Congenital folate malabsorption × [Met] Metabolic diseases	-	-	-	-
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" 254. Porphyria × [Met] Metabolic diseases	79 trials    | 11 / 20 / 39 / 1 💬 254. Porphyria × Some trials have no Phase data.	44 drugs   [ 17 drugs ]	19 genes   35 pathways	50 patients Age distribution💬 254. Porphyria × Age Num 0-9 - 10-19 1 20-29 8 30-39 16 40-49 5 50-59 16 60-69 2 70-74 2 75- -
255	Multiple carboxylase deficiency [Met] 💬 "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" 255. Multiple carboxylase deficiency × [Met] Metabolic diseases	1 trial    | 1 / 1 / 0 / 0 💬 255. Multiple carboxylase deficiency × Some trials have no Phase data.	1 drug   [ - ]	-	7 patients Age distribution💬 255. Multiple carboxylase deficiency × Age Num 0-9 - 10-19 - 20-29 6 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
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" 256. Muscle glycogenosis × [Met] Metabolic diseases	193 trials    | 28 / 53 / 63 / 28 💬 256. Muscle glycogenosis × Some trials have no Phase data.	97 drugs   [ 28 drugs ]	19 genes   93 pathways	30 patients Age distribution💬 256. Muscle glycogenosis × Age Num 0-9 - 10-19 - 20-29 8 30-39 1 40-49 9 50-59 3 60-69 4 70-74 2 75- 3
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 VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease" 257. Hepatic glycogenosis × [Met] Metabolic diseases	16 trials    | 4 / 7 / 0 / 0 💬 257. Hepatic glycogenosis × Some trials have no Phase data.	22 drugs   [ 9 drugs ]	2 genes   7 pathways	120 patients Age distribution💬 257. Hepatic glycogenosis × Age Num 0-9 - 10-19 - 20-29 50 30-39 32 40-49 25 50-59 7 60-69 4 70-74 2 75- -
258	Galactose-1-phosphate uridylyltransferase deficiency [Met] 💬 "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" 258. Galactose-1-phosphate uridylyltransferase deficiency × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 258. Galactose-1-phosphate uridylyltransferase deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
259	Lecithin-cholesterol acyltransferase deficiency [Met] 💬 "LCAT deficiency" 259. Lecithin-cholesterol acyltransferase deficiency × [Met] Metabolic diseases	2 trials    | 0 / 0 / 0 / 0 💬 259. Lecithin-cholesterol acyltransferase deficiency × Some trials have no Phase data.	2 drugs   [ - ]	-	4 patients Age distribution💬 259. Lecithin-cholesterol acyltransferase deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 - 60-69 1 70-74 2 75- 1
260	Sitosterolemia [Met] 💬 260. Sitosterolemia × [Met] Metabolic diseases	13 trials    | 0 / 1 / 4 / 0 💬 260. Sitosterolemia × Some trials have no Phase data.	7 drugs   [ 1 drug ]	1 gene   1 pathway	21 patients Age distribution💬 260. Sitosterolemia × Age Num 0-9 1 10-19 2 20-29 4 30-39 3 40-49 5 50-59 3 60-69 3 70-74 - 75- -
261	Tangier disease [Met] 💬 261. Tangier disease × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 261. Tangier disease × Some trials have no Phase data.	1 drug   [ - ]	-	9 patients Age distribution💬 261. Tangier disease × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 1 50-59 4 60-69 3 70-74 - 75- -
262	Primary hyperchylomicronemia [Met] 💬 262. Primary hyperchylomicronemia × [Met] Metabolic diseases	-	-	-	65 patients Age distribution💬 262. Primary hyperchylomicronemia × Age Num 0-9 - 10-19 - 20-29 17 30-39 7 40-49 13 50-59 21 60-69 5 70-74 1 75- 1
263	Cerebrotendinous xanthomatosis [Neu] 💬 "CTX", "27-hydroxylase deficiency", "CYP27 deficiency" 263. Cerebrotendinous xanthomatosis × [Neu] Neuromuscular diseases	8 trials    | 1 / 1 / 3 / 0 💬 263. Cerebrotendinous xanthomatosis × Some trials have no Phase data.	9 drugs   [ 2 drugs ]	2 genes   3 pathways	58 patients Age distribution💬 263. Cerebrotendinous xanthomatosis × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 10 50-59 23 60-69 15 70-74 3 75- 3
264	Abetalipoproteinemia [Met] 💬 "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" 264. Abetalipoproteinemia × [Met] Metabolic diseases	1 trial    | 0 / 0 / 0 / 0 💬 264. Abetalipoproteinemia × Some trials have no Phase data.	1 drug   [ - ]	-	5 patients Age distribution💬 264. Abetalipoproteinemia × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 3 50-59 - 60-69 - 70-74 - 75- -
265	Lipodystrophy [Endo] 💬 265. Lipodystrophy × [Endo] Endocrine diseases	127 trials    | 7 / 32 / 24 / 27 💬 265. Lipodystrophy × Some trials have no Phase data.	137 drugs   [ 58 drugs ]	28 genes   99 pathways	45 patients Age distribution💬 265. Lipodystrophy × Age Num 0-9 - 10-19 - 20-29 12 30-39 13 40-49 10 50-59 7 60-69 3 70-74 - 75- -
266	Familial mediterranean fever [Imm] 💬 266. Familial mediterranean fever × [Imm] Immune diseases	35 trials    | 1 / 10 / 10 / 3 💬 266. Familial mediterranean fever × Some trials have no Phase data.	21 drugs   [ 7 drugs ]	14 genes   58 pathways	856 patients Age distribution💬 266. Familial mediterranean fever × Age Num 0-9 - 10-19 9 20-29 180 30-39 206 40-49 172 50-59 167 60-69 73 70-74 17 75- 32
267	Hyper-IgD syndrome [Imm] 💬 "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" 267. Hyper-IgD syndrome × [Imm] Immune diseases	12 trials    | 0 / 2 / 0 / 0 💬 267. Hyper-IgD syndrome × Some trials have no Phase data.	5 drugs   [ 1 drug ]	1 gene   43 pathways	5 patients Age distribution💬 267. Hyper-IgD syndrome × Age Num 0-9 - 10-19 1 20-29 2 30-39 - 40-49 - 50-59 2 60-69 - 70-74 - 75- -
268	Nakajo-Nishimura syndrome [Imm] 💬 "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" 268. Nakajo-Nishimura syndrome × [Imm] Immune diseases	2 trials    | 0 / 0 / 0 / 0 💬 268. Nakajo-Nishimura syndrome × Some trials have no Phase data.	3 drugs   [ 1 drug ]	2 genes   37 pathways	10 patients Age distribution💬 268. Nakajo-Nishimura syndrome × Age Num 0-9 - 10-19 1 20-29 1 30-39 2 40-49 2 50-59 4 60-69 - 70-74 - 75- -
269	Pyogenic arthritis [Imm] 💬 "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" 269. Pyogenic arthritis × [Imm] Immune diseases	32 trials    | 1 / 16 / 10 / 2 💬 269. Pyogenic arthritis × Some trials have no Phase data.	32 drugs   [ 16 drugs ]	17 genes   106 pathways	13 patients Age distribution💬 269. Pyogenic arthritis × Age Num 0-9 - 10-19 1 20-29 2 30-39 4 40-49 3 50-59 2 60-69 1 70-74 - 75- -
270	Chronic recurrent multifocal osteomyelitis [Bone] 💬 270. Chronic recurrent multifocal osteomyelitis × [Bone] Bone and joint diseases	1 trial    | 0 / 0 / 0 / 0 💬 270. Chronic recurrent multifocal osteomyelitis × Some trials have no Phase data.	11 drugs   [ 9 drugs ]	6 genes   71 pathways	140 patients Age distribution💬 270. Chronic recurrent multifocal osteomyelitis × Age Num 0-9 - 10-19 5 20-29 26 30-39 14 40-49 15 50-59 27 60-69 32 70-74 14 75- 7
271	Ankylosing spondylitis [Bone] 💬 "Spondylarthritis ankylopoietica" 271. Ankylosing spondylitis × [Bone] Bone and joint diseases	603 trials    | 12 / 102 / 209 / 73 💬 271. Ankylosing spondylitis × Some trials have no Phase data.	302 drugs   [ 69 drugs ]	40 genes   146 pathways	5,734 patients Age distribution💬 271. Ankylosing spondylitis × Age Num 0-9 - 10-19 27 20-29 392 30-39 679 40-49 1,043 50-59 1,419 60-69 1,112 70-74 491 75- 571
272	Fibrodysplasia ossificans progressiva [Bone] 💬 "FOP" 272. Fibrodysplasia ossificans progressiva × [Bone] Bone and joint diseases	52 trials    | 2 / 32 / 20 / 0 💬 272. Fibrodysplasia ossificans progressiva × Some trials have no Phase data.	42 drugs   [ 10 drugs ]	28 genes   102 pathways	20 patients Age distribution💬 272. Fibrodysplasia ossificans progressiva × Age Num 0-9 - 10-19 2 20-29 8 30-39 3 40-49 - 50-59 5 60-69 2 70-74 - 75- -
273	Congenital scoliosis with rib anomaly [Bone] 💬 "Congenital scoliosis" 273. Congenital scoliosis with rib anomaly × [Bone] Bone and joint diseases	1 trial    | 0 / 0 / 0 / 1 💬 273. Congenital scoliosis with rib anomaly × Some trials have no Phase data.	1 drug   [ 1 drug ]	1 gene   11 pathways	22 patients Age distribution💬 273. Congenital scoliosis with rib anomaly × Age Num 0-9 3 10-19 6 20-29 6 30-39 1 40-49 3 50-59 1 60-69 1 70-74 1 75- -
274	Osteogenesis Imperfecta [Bone] 💬 274. Osteogenesis Imperfecta × [Bone] Bone and joint diseases	102 trials    | 17 / 27 / 38 / 10 💬 274. Osteogenesis Imperfecta × Some trials have no Phase data.	82 drugs   [ 22 drugs ]	15 genes   79 pathways	173 patients Age distribution💬 274. Osteogenesis Imperfecta × Age Num 0-9 1 10-19 3 20-29 74 30-39 20 40-49 25 50-59 23 60-69 14 70-74 7 75- 6
275	Thanatophoric dysplasia [Bone] 💬 275. Thanatophoric dysplasia × [Bone] Bone and joint diseases	-	-	-	5 patients Age distribution💬 275. Thanatophoric dysplasia × Age Num 0-9 - 10-19 1 20-29 3 30-39 1 40-49 - 50-59 - 60-69 - 70-74 - 75- -
276	Achondroplasia [Bone] 💬 276. Achondroplasia × [Bone] Bone and joint diseases	65 trials    | 3 / 47 / 13 / 1 💬 276. Achondroplasia × Some trials have no Phase data.	37 drugs   [ 6 drugs ]	5 genes   29 pathways	113 patients Age distribution💬 276. Achondroplasia × Age Num 0-9 2 10-19 4 20-29 47 30-39 10 40-49 26 50-59 15 60-69 7 70-74 1 75- 1
277	Lymphangiomatosis [Resp] 💬 "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" 277. Lymphangiomatosis × [Resp] Respiratory diseases	6 trials    | 2 / 2 / 1 / 0 💬 277. Lymphangiomatosis × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	1 gene   49 pathways	93 patients Age distribution💬 277. Lymphangiomatosis × Age Num 0-9 - 10-19 1 20-29 32 30-39 24 40-49 10 50-59 9 60-69 8 70-74 5 75- 4
278	Huge lymphatic malformation with cervicofacial lesion [Resp] 💬 "Huge lymphatic malformation", "Lymphatic malformation" 278. Huge lymphatic malformation with cervicofacial lesion × [Resp] Respiratory diseases	32 trials    | 2 / 16 / 4 / 2 💬 278. Huge lymphatic malformation with cervicofacial lesion × Some trials have no Phase data.	32 drugs   [ 12 drugs ]	8 genes   136 pathways	41 patients Age distribution💬 278. Huge lymphatic malformation with cervicofacial lesion × Age Num 0-9 - 10-19 2 20-29 23 30-39 11 40-49 - 50-59 4 60-69 - 70-74 - 75- 1
279	Huge venous malformation with cervical, oral and pharyngeal diffuse lesion [Card] 💬 oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation", "Gigantic venous malformation" 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × [Card] Cardiovascular diseases	24 trials    | 1 / 8 / 1 / 3 💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Some trials have no Phase data.	24 drugs   [ 12 drugs ]	6 genes   132 pathways	79 patients Age distribution💬 279. Huge venous malformation with cervical, oral and pharyngeal diffuse lesion × Age Num 0-9 - 10-19 2 20-29 19 30-39 12 40-49 16 50-59 13 60-69 11 70-74 4 75- 2
280	Huge arteriovenous malformation with cervicofacial or limb lesion [Card] 💬 "Huge arteriovenous malformation", "Arteriovenous malformation", "Gigantic arteriovenous malformation" 280. Huge arteriovenous malformation with cervicofacial or limb lesion × [Card] Cardiovascular diseases	29 trials    | 4 / 6 / 0 / 2 💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Some trials have no Phase data.	31 drugs   [ 15 drugs ]	12 genes   163 pathways	126 patients Age distribution💬 280. Huge arteriovenous malformation with cervicofacial or limb lesion × Age Num 0-9 - 10-19 1 20-29 28 30-39 26 40-49 25 50-59 25 60-69 12 70-74 7 75- 2
281	Klippel-Trenaunay-Weber syndrome [Card] 💬 "Klippel-Trénaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" 281. Klippel-Trenaunay-Weber syndrome × [Card] Cardiovascular diseases	3 trials    | 0 / 0 / 0 / 0 💬 281. Klippel-Trenaunay-Weber syndrome × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	1 gene   49 pathways	300 patients Age distribution💬 281. Klippel-Trenaunay-Weber syndrome × Age Num 0-9 2 10-19 15 20-29 69 30-39 52 40-49 50 50-59 61 60-69 34 70-74 9 75- 8
282	Congenital dyserythropoietic anemia [Hem] 💬 "CDA" 282. Congenital dyserythropoietic anemia × [Hem] Hematologic diseases	2 trials    | 0 / 1 / 0 / 1 💬 282. Congenital dyserythropoietic anemia × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	3 genes   7 pathways	14 patients Age distribution💬 282. Congenital dyserythropoietic anemia × Age Num 0-9 - 10-19 - 20-29 3 30-39 3 40-49 1 50-59 1 60-69 4 70-74 - 75- 2
283	Acquired pure red cell aplasia [Hem] 💬 "Pure red cell aplasia" 283. Acquired pure red cell aplasia × [Hem] Hematologic diseases	21 trials    | 2 / 10 / 2 / 3 💬 283. Acquired pure red cell aplasia × Some trials have no Phase data.	35 drugs   [ 20 drugs ]	27 genes   110 pathways	985 patients Age distribution💬 283. Acquired pure red cell aplasia × Age Num 0-9 - 10-19 1 20-29 7 30-39 20 40-49 43 50-59 91 60-69 162 70-74 136 75- 525
284	Diamond-Blackfan anemia [Hem] 💬 284. Diamond-Blackfan anemia × [Hem] Hematologic diseases	39 trials    | 6 / 12 / 1 / 1 💬 284. Diamond-Blackfan anemia × Some trials have no Phase data.	95 drugs   [ 35 drugs ]	34 genes   131 pathways	28 patients Age distribution💬 284. Diamond-Blackfan anemia × Age Num 0-9 - 10-19 - 20-29 15 30-39 9 40-49 4 50-59 - 60-69 - 70-74 - 75- -
285	Fanconi anemia [Hem] 💬 285. Fanconi anemia × [Hem] Hematologic diseases	69 trials    | 17 / 30 / 3 / 0 💬 285. Fanconi anemia × Some trials have no Phase data.	109 drugs   [ 37 drugs ]	45 genes   169 pathways	12 patients Age distribution💬 285. Fanconi anemia × Age Num 0-9 1 10-19 - 20-29 6 30-39 3 40-49 2 50-59 - 60-69 - 70-74 - 75- -
286	Hereditary sideroblastic anemia [Hem] 💬 "Congenital sideroblastic anemia", "Sideroblastic anemia" 286. Hereditary sideroblastic anemia × [Hem] Hematologic diseases	7 trials    | 0 / 0 / 0 / 0 💬 286. Hereditary sideroblastic anemia × Some trials have no Phase data.	25 drugs   [ 10 drugs ]	19 genes   64 pathways	13 patients Age distribution💬 286. Hereditary sideroblastic anemia × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 2 50-59 4 60-69 3 70-74 - 75- 2
287	Epstein syndrome [Chr] 💬 287. Epstein syndrome × [Chr] Chromosomal and gene abnormalities	-	-	-	18 patients Age distribution💬 287. Epstein syndrome × Age Num 0-9 - 10-19 - 20-29 7 30-39 2 40-49 2 50-59 4 60-69 1 70-74 1 75- 1
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" 288. Autoimmune acquired coagulation factor deficiency × [Hem] Hematologic diseases	228 trials    | 6 / 24 / 105 / 24 💬 288. Autoimmune acquired coagulation factor deficiency × Some trials have no Phase data.	168 drugs   [ 33 drugs ]	12 genes   26 pathways	496 patients Age distribution💬 288. Autoimmune acquired coagulation factor deficiency × Age Num 0-9 - 10-19 1 20-29 2 30-39 8 40-49 8 50-59 26 60-69 77 70-74 63 75- 311
289	Cronkhite-Canada syndrome [Gast] 💬 289. Cronkhite-Canada syndrome × [Gast] Gastrointestinal diseases	1 trial    | 0 / 0 / 0 / 0 💬 289. Cronkhite-Canada syndrome × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	224 patients Age distribution💬 289. Cronkhite-Canada syndrome × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 6 50-59 29 60-69 62 70-74 60 75- 64
290	Chronic nonspecific multiple ulcers of the small intestine [Gast] 💬 "Nonspecific multiple ulcers in the small intestine" 290. Chronic nonspecific multiple ulcers of the small intestine × [Gast] Gastrointestinal diseases	1 trial    | 1 / 1 / 0 / 0 💬 290. Chronic nonspecific multiple ulcers of the small intestine × Some trials have no Phase data.	1 drug   [ 1 drug ]	1 gene   1 pathway	88 patients Age distribution💬 290. Chronic nonspecific multiple ulcers of the small intestine × Age Num 0-9 - 10-19 1 20-29 4 30-39 7 40-49 13 50-59 24 60-69 20 70-74 6 75- 13
291	Hirschsprung disease, entire colon type [Gast] 💬 entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" 291. Hirschsprung disease, entire colon type × [Gast] Gastrointestinal diseases	14 trials    | 0 / 1 / 2 / 1 💬 291. Hirschsprung disease, entire colon type × Some trials have no Phase data.	26 drugs   [ 9 drugs ]	-	26 patients Age distribution💬 291. Hirschsprung disease, entire colon type × Age Num 0-9 1 10-19 4 20-29 14 30-39 2 40-49 2 50-59 3 60-69 - 70-74 - 75- -
292	Cloacal exstrophy [Gast] 💬 "Vesicointestinal fissure" 292. Cloacal exstrophy × [Gast] Gastrointestinal diseases	-	-	-	21 patients Age distribution💬 292. Cloacal exstrophy × Age Num 0-9 - 10-19 1 20-29 14 30-39 3 40-49 1 50-59 2 60-69 - 70-74 - 75- -
293	Persistent cloaca [Gast] 💬 293. Persistent cloaca × [Gast] Gastrointestinal diseases	-	-	-	54 patients Age distribution💬 293. Persistent cloaca × Age Num 0-9 - 10-19 1 20-29 35 30-39 13 40-49 3 50-59 2 60-69 - 70-74 - 75- -
294	Congenital diaphragmatic hernia [Resp] 💬 294. Congenital diaphragmatic hernia × [Resp] Respiratory diseases	18 trials    | 1 / 3 / 7 / 2 💬 294. Congenital diaphragmatic hernia × Some trials have no Phase data.	31 drugs   [ 5 drugs ]	5 genes   13 pathways	15 patients Age distribution💬 294. Congenital diaphragmatic hernia × Age Num 0-9 1 10-19 2 20-29 8 30-39 3 40-49 - 50-59 - 60-69 - 70-74 1 75- -
295	Infant huge hepatic hemangioma [Gast] 💬 "Infant giant liver hemangioma", "Giant hepatic haemangiomas", "Critical infantile hepatic haemangioma" 295. Infant huge hepatic hemangioma × [Gast] Gastrointestinal diseases	-	-	-	-
296	Biliary atresia [Gast] 💬 296. Biliary atresia × [Gast] Gastrointestinal diseases	73 trials    | 1 / 21 / 13 / 8 💬 296. Biliary atresia × Some trials have no Phase data.	67 drugs   [ 36 drugs ]	51 genes   68 pathways	578 patients Age distribution💬 296. Biliary atresia × Age Num 0-9 2 10-19 7 20-29 397 30-39 102 40-49 56 50-59 13 60-69 1 70-74 - 75- -
297	Alagille syndrome [Gast] 💬 297. Alagille syndrome × [Gast] Gastrointestinal diseases	45 trials    | 0 / 19 / 14 / 1 💬 297. Alagille syndrome × Some trials have no Phase data.	15 drugs   [ 8 drugs ]	3 genes   5 pathways	51 patients Age distribution💬 297. Alagille syndrome × Age Num 0-9 2 10-19 1 20-29 28 30-39 14 40-49 3 50-59 2 60-69 1 70-74 - 75- -
298	Hereditary pancreatitis [Gast] 💬 "Chronic pancreatitis" 298. Hereditary pancreatitis × [Gast] Gastrointestinal diseases	110 trials    | 19 / 29 / 16 / 10 💬 298. Hereditary pancreatitis × Some trials have no Phase data.	142 drugs   [ 59 drugs ]	61 genes   154 pathways	41 patients Age distribution💬 298. Hereditary pancreatitis × Age Num 0-9 - 10-19 1 20-29 17 30-39 10 40-49 6 50-59 4 60-69 1 70-74 2 75- -
299	Cystic fibrosis [Gast] 💬 "CF" 299. Cystic fibrosis × [Gast] Gastrointestinal diseases	1,826 trials    | 210 / 472 / 623 / 136 💬 299. Cystic fibrosis × Some trials have no Phase data.	1,271 drugs   [ 246 drugs ]	118 genes   180 pathways	17 patients Age distribution💬 299. Cystic fibrosis × Age Num 0-9 - 10-19 - 20-29 7 30-39 2 40-49 5 50-59 1 60-69 - 70-74 2 75- -
300	IgG4-related disease [Imm] 💬 "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" 300. IgG4-related disease × [Imm] Immune diseases	57 trials    | 2 / 12 / 17 / 7 💬 300. IgG4-related disease × Some trials have no Phase data.	52 drugs   [ 29 drugs ]	20 genes   147 pathways	4,492 patients Age distribution💬 300. IgG4-related disease × Age Num 0-9 - 10-19 2 20-29 20 30-39 37 40-49 199 50-59 691 60-69 1,159 70-74 852 75- 1,532
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" 301. Macular dystrophy × [Eye] Eye diseases	59 trials    | 18 / 30 / 11 / 0 💬 301. Macular dystrophy × Some trials have no Phase data.	42 drugs   [ 14 drugs ]	9 genes   72 pathways	262 patients Age distribution💬 301. Macular dystrophy × Age Num 0-9 2 10-19 6 20-29 12 30-39 19 40-49 39 50-59 60 60-69 58 70-74 29 75- 37
302	Leber hereditary optic neuropathy [Eye] 💬 "LHON", "Leber disease" 302. Leber hereditary optic neuropathy × [Eye] Eye diseases	41 trials    | 5 / 9 / 16 / 10 💬 302. Leber hereditary optic neuropathy × Some trials have no Phase data.	22 drugs   [ 9 drugs ]	5 genes   33 pathways	134 patients Age distribution💬 302. Leber hereditary optic neuropathy × Age Num 0-9 1 10-19 10 20-29 16 30-39 9 40-49 26 50-59 28 60-69 19 70-74 12 75- 13
303	Usher syndrome [Hear] 💬 [Eye] 💬 303. Usher syndrome × [Hear] Hearing and balance disorders [Eye] Eye diseases	15 trials    | 1 / 2 / 0 / 0 💬 303. Usher syndrome × Some trials have no Phase data.	19 drugs   [ 5 drugs ]	1 gene   1 pathway	30 patients Age distribution💬 303. Usher syndrome × Age Num 0-9 1 10-19 7 20-29 3 30-39 3 40-49 7 50-59 3 60-69 3 70-74 2 75- 1
304	Juvenile-onset bilateral sensorineural hearing loss [Hear] 💬 304. Juvenile-onset bilateral sensorineural hearing loss × [Hear] Hearing and balance disorders	-	-	-	70 patients Age distribution💬 304. Juvenile-onset bilateral sensorineural hearing loss × Age Num 0-9 1 10-19 4 20-29 4 30-39 9 40-49 14 50-59 26 60-69 10 70-74 - 75- 2
305	Delayed endolymphatic hydrops [Hear] 💬 305. Delayed endolymphatic hydrops × [Hear] Hearing and balance disorders	2 trials    | 0 / 0 / 0 / 0 💬 305. Delayed endolymphatic hydrops × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	-	28 patients Age distribution💬 305. Delayed endolymphatic hydrops × Age Num 0-9 - 10-19 - 20-29 1 30-39 2 40-49 6 50-59 9 60-69 7 70-74 2 75- 1
306	Eosinophilic sinusitis [Imm] 💬 [Hear] 💬 306. Eosinophilic sinusitis × [Imm] Immune diseases [Hear] Hearing and balance disorders	1 trial    | 0 / 0 / 0 / 0 💬 306. Eosinophilic sinusitis × Some trials have no Phase data.	2 drugs   [ 3 drugs ]	2 genes   11 pathways	34,536 patients Age distribution💬 306. Eosinophilic sinusitis × Age Num 0-9 - 10-19 31 20-29 660 30-39 2,671 40-49 6,766 50-59 10,554 60-69 8,318 70-74 2,812 75- 2,724
307	Canavan disease [Neu] 💬 307. Canavan disease × [Neu] Neuromuscular diseases	6 trials    | 3 / 3 / 0 / 0 💬 307. Canavan disease × Some trials have no Phase data.	8 drugs   [ 4 drugs ]	2 genes   2 pathways	-
308	Progressive leukoencephalopathy [Neu] 💬 "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Vanishing white matter disease", "Leukoencephalopathy, progressive, with ovarian failure" 308. Progressive leukoencephalopathy × [Neu] Neuromuscular diseases	2 trials    | 1 / 1 / 0 / 0 💬 308. Progressive leukoencephalopathy × Some trials have no Phase data.	3 drugs   [ 1 drug ]	5 genes   1 pathway	32 patients Age distribution💬 308. Progressive leukoencephalopathy × Age Num 0-9 - 10-19 - 20-29 1 30-39 3 40-49 7 50-59 2 60-69 12 70-74 4 75- 3
309	Progressive myoclonus epilepsy [Neu] 💬 "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" 309. Progressive myoclonus epilepsy × [Neu] Neuromuscular diseases	14 trials    | 1 / 2 / 7 / 0 💬 309. Progressive myoclonus epilepsy × Some trials have no Phase data.	16 drugs   [ 5 drugs ]	7 genes   16 pathways	52 patients Age distribution💬 309. Progressive myoclonus epilepsy × Age Num 0-9 - 10-19 - 20-29 6 30-39 11 40-49 8 50-59 10 60-69 7 70-74 3 75- 7
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" 310. Congenital anomalies syndrome × [Chr] Chromosomal and gene abnormalities	12 trials    | 2 / 6 / 1 / 0 💬 310. Congenital anomalies syndrome × Some trials have no Phase data.	16 drugs   [ 9 drugs ]	3 genes   8 pathways	41 patients Age distribution💬 310. Congenital anomalies syndrome × Age Num 0-9 3 10-19 7 20-29 26 30-39 3 40-49 1 50-59 1 60-69 - 70-74 - 75- -
311	Congenital tricuspid stenosis [Card] 💬 311. Congenital tricuspid stenosis × [Card] Cardiovascular diseases	-	-	-	7 patients Age distribution💬 311. Congenital tricuspid stenosis × Age Num 0-9 1 10-19 - 20-29 6 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
312	Congenital mitral stenosis [Card] 💬 312. Congenital mitral stenosis × [Card] Cardiovascular diseases	-	-	-	24 patients Age distribution💬 312. Congenital mitral stenosis × Age Num 0-9 - 10-19 - 20-29 20 30-39 1 40-49 2 50-59 1 60-69 - 70-74 - 75- -
313	Congenital pulmonary vein stenosis [Card] 💬 "Congenital pulmonary venous obstruction" 313. Congenital pulmonary vein stenosis × [Card] Cardiovascular diseases	-	-	-	3 patients Age distribution💬 313. Congenital pulmonary vein stenosis × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
314	Vascular sling [Card] 💬 314. Vascular sling × [Card] Cardiovascular diseases	-	-	-	2 patients Age distribution💬 314. Vascular sling × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
315	Nail-Patella syndrome [Kid] 💬 "LMX1B-associated nephropathy" 315. Nail-Patella syndrome × [Kid] Kidney and urinary diseases	-	-	-	10 patients Age distribution💬 315. Nail-Patella syndrome × Age Num 0-9 - 10-19 - 20-29 2 30-39 1 40-49 1 50-59 3 60-69 3 70-74 - 75- -
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" 316. Carnitine cycle disorder × [Met] Metabolic diseases	4 trials    | 0 / 1 / 1 / 0 💬 316. Carnitine cycle disorder × Some trials have no Phase data.	5 drugs   [ 2 drugs ]	1 gene   10 pathways	22 patients Age distribution💬 316. Carnitine cycle disorder × Age Num 0-9 - 10-19 - 20-29 11 30-39 6 40-49 2 50-59 3 60-69 - 70-74 - 75- -
317	Trifunctional protein deficiency [Met] 💬 "TFP deficiency" 317. Trifunctional protein deficiency × [Met] Metabolic diseases	4 trials    | 0 / 0 / 0 / 0 💬 317. Trifunctional protein deficiency × Some trials have no Phase data.	6 drugs   [ 3 drugs ]	-	3 patients Age distribution💬 317. Trifunctional protein deficiency × Age Num 0-9 - 10-19 - 20-29 - 30-39 1 40-49 1 50-59 1 60-69 - 70-74 - 75- -
318	Citrin deficiency [Met] 💬 "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" 318. Citrin deficiency × [Met] Metabolic diseases	1 trial    | 0 / 1 / 0 / 0 💬 318. Citrin deficiency × Some trials have no Phase data.	1 drug   [ 1 drug ]	-	81 patients Age distribution💬 318. Citrin deficiency × Age Num 0-9 - 10-19 - 20-29 24 30-39 8 40-49 3 50-59 19 60-69 18 70-74 5 75- 4
319	Sepiapterin reductase deficiency [Met] 💬 319. Sepiapterin reductase deficiency × [Met] Metabolic diseases	-	-	-	2 patients Age distribution💬 319. Sepiapterin reductase deficiency × Age Num 0-9 - 10-19 - 20-29 1 30-39 - 40-49 1 50-59 - 60-69 - 70-74 - 75- -
320	Inherited glycosylphosphatidylinositol deficiency [Neu] 💬 "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency" 320. Inherited glycosylphosphatidylinositol deficiency × [Neu] Neuromuscular diseases	3 trials    | 0 / 0 / 0 / 0 💬 320. Inherited glycosylphosphatidylinositol deficiency × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	-	2 patients Age distribution💬 320. Inherited glycosylphosphatidylinositol deficiency × Age Num 0-9 - 10-19 - 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
321	Non-ketotic hyperglycinemia [Met] 💬 "NKH" 321. Non-ketotic hyperglycinemia × [Met] Metabolic diseases	-	-	-	3 patients Age distribution💬 321. Non-ketotic hyperglycinemia × Age Num 0-9 - 10-19 1 20-29 2 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
322	Beta-ketothiolase deficiency [Met] 💬 322. Beta-ketothiolase deficiency × [Met] Metabolic diseases	-	-	-	-
323	Aromatic L-amino acid decarboxylase deficiency [Met] 💬 323. Aromatic L-amino acid decarboxylase deficiency × [Met] Metabolic diseases	1 trial    | 1 / 0 / 0 / 0 💬 323. Aromatic L-amino acid decarboxylase deficiency × Some trials have no Phase data.	1 drug   [ - ]	-	4 patients Age distribution💬 323. Aromatic L-amino acid decarboxylase deficiency × Age Num 0-9 - 10-19 - 20-29 4 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
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" 324. Methylglutaconic aciduria × [Met] Metabolic diseases	4 trials    | 0 / 2 / 1 / 0 💬 324. Methylglutaconic aciduria × Some trials have no Phase data.	3 drugs   [ 3 drugs ]	1 gene   10 pathways	1 patient Age distribution💬 324. Methylglutaconic aciduria × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- 1
325	Hereditary autoinflammatory syndrome [Imm] 💬 "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" 325. Hereditary autoinflammatory syndrome × [Imm] Immune diseases	12 trials    | 1 / 7 / 0 / 0 💬 325. Hereditary autoinflammatory syndrome × Some trials have no Phase data.	15 drugs   [ 7 drugs ]	2 genes   37 pathways	23 patients Age distribution💬 325. Hereditary autoinflammatory syndrome × Age Num 0-9 - 10-19 1 20-29 13 30-39 4 40-49 3 50-59 2 60-69 - 70-74 - 75- -
326	Osteopetrosis [Met] 💬 "Neonatal/infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" 326. Osteopetrosis × [Met] Metabolic diseases	18 trials    | 1 / 5 / 3 / 0 💬 326. Osteopetrosis × Some trials have no Phase data.	37 drugs   [ 16 drugs ]	25 genes   93 pathways	22 patients Age distribution💬 326. Osteopetrosis × Age Num 0-9 - 10-19 - 20-29 1 30-39 1 40-49 6 50-59 8 60-69 5 70-74 - 75- 1
327	Idiopathic thrombosis [Hem] 💬 327. Idiopathic thrombosis × [Hem] Hematologic diseases	-	-	-	311 patients Age distribution💬 327. Idiopathic thrombosis × Age Num 0-9 - 10-19 3 20-29 48 30-39 77 40-49 61 50-59 56 60-69 44 70-74 9 75- 13
328	Anterior segment dysgenesis [Eye] 💬 "ASD" 328. Anterior segment dysgenesis × [Eye] Eye diseases	-	-	-	21 patients Age distribution💬 328. Anterior segment dysgenesis × Age Num 0-9 10 10-19 2 20-29 4 30-39 - 40-49 3 50-59 1 60-69 - 70-74 1 75- -
329	Aniridia [Eye] 💬 329. Aniridia × [Eye] Eye diseases	3 trials    | 0 / 2 / 0 / 0 💬 329. Aniridia × Some trials have no Phase data.	2 drugs   [ 2 drugs ]	-	156 patients Age distribution💬 329. Aniridia × Age Num 0-9 23 10-19 19 20-29 21 30-39 21 40-49 25 50-59 29 60-69 10 70-74 3 75- 5
330	Congenital tracheal stenosis [Resp] 💬 [Hear] 💬 "Congenital subglottic stenosis", "Congenital tracheal stenosis", "Congenital subglottic stenosis" 330. Congenital tracheal stenosis × [Resp] Respiratory diseases [Hear] Hearing and balance disorders	2 trials    | 0 / 1 / 0 / 0 💬 330. Congenital tracheal stenosis × Some trials have no Phase data.	3 drugs   [ 2 drugs ]	-	68 patients Age distribution💬 330. Congenital tracheal stenosis × Age Num 0-9 3 10-19 - 20-29 61 30-39 3 40-49 - 50-59 - 60-69 - 70-74 - 75- 1
331	Idiopathic multicentric castleman disease [Hem] 💬 "iMCD", "Castleman disease" 331. Idiopathic multicentric castleman disease × [Hem] Hematologic diseases	40 trials    | 7 / 28 / 0 / 2 💬 331. Idiopathic multicentric castleman disease × Some trials have no Phase data.	45 drugs   [ 29 drugs ]	43 genes   163 pathways	2,060 patients Age distribution💬 331. Idiopathic multicentric castleman disease × Age Num 0-9 - 10-19 9 20-29 30 30-39 109 40-49 307 50-59 606 60-69 491 70-74 210 75- 298
332	Gelatinous drop-like corneal dystrophy [Eye] 💬 332. Gelatinous drop-like corneal dystrophy × [Eye] Eye diseases	-	-	-	9 patients Age distribution💬 332. Gelatinous drop-like corneal dystrophy × Age Num 0-9 - 10-19 - 20-29 2 30-39 2 40-49 - 50-59 4 60-69 - 70-74 1 75- -
333	Hutchinson-Gilford syndrome [Chr] 💬 "Hutchinson-Gilford progeria syndrome", "HGPS" 333. Hutchinson-Gilford syndrome × [Chr] Chromosomal and gene abnormalities	9 trials    | 1 / 6 / 0 / 0 💬 333. Hutchinson-Gilford syndrome × Some trials have no Phase data.	7 drugs   [ 4 drugs ]	4 genes   5 pathways	-
334	Cerebral creatine deficiency syndrome [Neu] 💬 "CCDS" 334. Cerebral creatine deficiency syndrome × [Neu] Neuromuscular diseases	-	-	-	1 patient Age distribution💬 334. Cerebral creatine deficiency syndrome × Age Num 0-9 - 10-19 1 20-29 - 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- -
335	Nephronophthisis [Kid] 💬 "NPHP", "NPH" 335. Nephronophthisis × [Kid] Kidney and urinary diseases	1 trial    | 0 / 0 / 0 / 0 💬 335. Nephronophthisis × Some trials have no Phase data.	1 drug   [ - ]	-	27 patients Age distribution💬 335. Nephronophthisis × Age Num 0-9 - 10-19 1 20-29 23 30-39 2 40-49 1 50-59 - 60-69 - 70-74 - 75- -
336	Familial hypobetalipoproteinemia 1 [Met] 💬 "FHBL1" 336. Familial hypobetalipoproteinemia 1 × [Met] Metabolic diseases	-	-	-	1 patient Age distribution💬 336. Familial hypobetalipoproteinemia 1 × Age Num 0-9 - 10-19 - 20-29 - 30-39 - 40-49 - 50-59 1 60-69 - 70-74 - 75- -
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" 337. Homocystinuria × [Met] Metabolic diseases	21 trials    | 6 / 9 / 2 / 0 💬 337. Homocystinuria × Some trials have no Phase data.	22 drugs   [ 10 drugs ]	4 genes   32 pathways	33 patients Age distribution💬 337. Homocystinuria × Age Num 0-9 - 10-19 - 20-29 11 30-39 8 40-49 9 50-59 4 60-69 1 70-74 - 75- -
338	Progressive familial intrahepatic cholestasis [Gast] 💬 "PFIC" 338. Progressive familial intrahepatic cholestasis × [Gast] Gastrointestinal diseases	62 trials    | 0 / 4 / 41 / 0 💬 338. Progressive familial intrahepatic cholestasis × Some trials have no Phase data.	14 drugs   [ 5 drugs ]	2 genes   3 pathways	7 patients Age distribution💬 338. Progressive familial intrahepatic cholestasis × Age Num 0-9 - 10-19 1 20-29 4 30-39 2 40-49 - 50-59 - 60-69 - 70-74 - 75- -
339	MECP2 duplication syndrome [Chr] 💬 339. MECP2 duplication syndrome × [Chr] Chromosomal and gene abnormalities	2 trials    | 1 / 1 / 0 / 0 💬 339. MECP2 duplication syndrome × Some trials have no Phase data.	3 drugs   [ - ]	-	8 patients Age distribution💬 339. MECP2 duplication syndrome × Age Num 0-9 - 10-19 - 20-29 5 30-39 1 40-49 - 50-59 1 60-69 1 70-74 - 75- -
340	Primary ciliary dyskinesia [Resp] 💬 "PCD", "Kartagener syndrome", "KS" 340. Primary ciliary dyskinesia × [Resp] Respiratory diseases	23 trials    | 3 / 7 / 4 / 0 💬 340. Primary ciliary dyskinesia × Some trials have no Phase data.	29 drugs   [ 8 drugs ]	2 genes   18 pathways	74 patients Age distribution💬 340. Primary ciliary dyskinesia × Age Num 0-9 - 10-19 4 20-29 15 30-39 20 40-49 10 50-59 16 60-69 6 70-74 - 75- 3
341	TRPV4 deficiency [Bone] 💬 "Metatropic dysplasia", "Spondyloepimetaphyseal dysplasia, Maroteaux type", "Pseudo-Morquio syndrome type 2", "Spondylometaphyseal dysplasia, Kozlowski type", "Brachyolmia, autosomal dominant type", "Familial digital arthropathy with brachydactyly", "Familial digital arthropathy-brachydactyly" 341. TRPV4 deficiency × [Bone] Bone and joint diseases	-	-	-	4 patients Age distribution💬 341. TRPV4 deficiency × Age Num 0-9 - 10-19 - 20-29 3 30-39 - 40-49 - 50-59 - 60-69 - 70-74 - 75- 1
342	LMNB1-related cerebral leukoencephalopathy [Neu] 💬 "Autosomal dominant adult-onset demyelinating leukodystrophy", "LMNB1-related autosomal dominant leukodystrophy", "ADLD" 342. LMNB1-related cerebral leukoencephalopathy × [Neu] Neuromuscular diseases	-	-	-	-
343	PURA-related neurodevelopmental disorders [Neu] 💬 "PURA-NDDs" 343. PURA-related neurodevelopmental disorders × [Neu] Neuromuscular diseases	-	-	-	-
344	Very long-chain acyl-CoA dehydrogenase deficiency [Met] 💬 "Very long-chain acyl-coenzyme A dehydrogenase deficiency", "Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency", "VLCAD deficiency", "VLCADD" 344. Very long-chain acyl-CoA dehydrogenase deficiency × [Met] Metabolic diseases	6 trials    | 0 / 2 / 0 / 0 💬 344. Very long-chain acyl-CoA dehydrogenase deficiency × Some trials have no Phase data.	10 drugs   [ 2 drugs ]	1 gene   10 pathways	-
345	Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy [Imm] 💬 [Chr] 💬 "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "STING-associated vasculopathy with onset in infancy", "SAVI" 345. Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy × [Imm] Immune diseases [Chr] Chromosomal and gene abnormalities	5 trials    | 0 / 1 / 1 / 0 💬 345. Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy × Some trials have no Phase data.	3 drugs   [ 1 drug ]	2 genes   37 pathways	-
346	Primary extrahepatic portal vein obstruction [Gast] 💬 "EHPVO" 346. Primary extrahepatic portal vein obstruction × [Gast] Gastrointestinal diseases	-	-	-	-
347	Hemorrhagic disorders of fibrinolysis [Hem] 💬 "Hemorrhagic fibrinolytic disorder" 347. Hemorrhagic disorders of fibrinolysis × [Hem] Hematologic diseases	-	-	-	-
348	Lowe syndrome [Neu] 💬 "Oculocerebrorenal syndrome of Lowe", "OCRL" 348. Lowe syndrome × [Neu] Neuromuscular diseases	-	-	-	-