Disease 指定難病
疾患数 : 348 - 臨床試験総数 : 43,690 / 薬物総数 : 27,527 - ( DrugBank : 2,441 ) / 標的遺伝子総数 : 714 - 標的パスウェイ総数 : 315
| 告示 番号 | 疾患名 ［疾患群］ | 臨床試験数 | Phase 1 / 2 / 3 / 4 | 薬物数 [ DrugBank ] | 標的遺伝子数 | パスウェイ数 | 国内患者数 R6年度医療費受給者証所持者数（修正版） |
|---|---|---|---|---|---|
| 1 | 球脊髄性筋萎縮症 [神] 💬 "Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy syndrome", "Kennedy-Alter-Sung syndrome" | 20 20 trials | 1 / 14 / 2 / 1 💬 | 19 19 drugs [ 8 8 drugs ] | 11 11 genes | 20 pathways | 1758 1,758人年齢分布
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| 2 | 筋萎縮性側索硬化症 [神] 💬 "Amyotrophic lateral sclerosis", "ALS" | 867 867 trials | 179 / 363 / 272 / 11 💬 | 820 820 drugs [ 185 185 drugs ] | 189 189 genes | 237 pathways | 9769 9,769人年齢分布
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| 3 | 脊髄性筋萎縮症 [神] 💬 "Spinal muscular atrophy", "SMA", "Myelopathic muscular atrophy", "Werdnig-Hoffman disease", "Dubowitz disease", "Kugelberg-Welander disease", "Dubowitz syndrome" | 317 317 trials | 46 / 132 / 135 / 18 💬 | 217 217 drugs [ 34 34 drugs ] | 55 55 genes | 79 pathways | 943 943人年齢分布
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| 4 | 原発性側索硬化症 [神] 💬 "Primary lateral sclerosis", "PLS" | 7 7 trials | 1 / 0 / 0 / 0 💬 | 20 20 drugs [ 5 5 drugs ] | 16 16 genes | 28 pathways | 182 182人年齢分布
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| 5 | 進行性核上性麻痺 [神] 💬 "Progressive supranuclear palsy", "PSP" | 120 120 trials | 22 / 51 / 10 / 2 💬 | 141 141 drugs [ 36 36 drugs ] | 68 68 genes | 112 pathways | 13567 13,567人年齢分布
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| 6 | パーキンソン病 [神] 💬 "Parkinson disease", "Disease Parkinson's", "Parkinson syndrome", "Parkinsonian syndrome" | 2,817 2,817 trials | 400 / 771 / 613 / 242 💬 | 2,606 2,606 drugs [ 348 348 drugs ] | 185 185 genes | 205 pathways | 150576 150,576人年齢分布
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| 7 | 大脳皮質基底核変性症 [神] 💬 "Corticobasal degeneration", "Corticobasal syndrome", "CBD" | 28 28 trials | 1 / 2 / 0 / 0 💬 | 55 55 drugs [ 14 14 drugs ] | 9 9 genes | 42 pathways | 4462 4,462人年齢分布
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| 8 | ハンチントン病 [神] 💬 "Huntington disease", "Huntington chorea", "Huntington syndrome" | 296 296 trials | 75 / 159 / 52 / 5 💬 | 245 245 drugs [ 63 63 drugs ] | 89 89 genes | 165 pathways | 860 860人年齢分布
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| 9 | 神経有棘赤血球症 [神] 💬 "Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2" | 0 - | 0 - | 0 - | 32 32人年齢分布
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| 10 | シャルコー・マリー・トゥース病 [神] 💬 "Charcot-Marie-Tooth disease", "CMT" | 59 59 trials | 11 / 20 / 24 / 0 💬 | 76 76 drugs [ 12 12 drugs ] | 13 13 genes | 24 pathways | 1009 1,009人年齢分布
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| 11 | 重症筋無力症 [神] 💬 "Myasthenia gravis", "MG" | 525 525 trials | 29 / 129 / 289 / 24 💬 | 355 355 drugs [ 80 80 drugs ] | 75 75 genes | 139 pathways | 28324 28,324人年齢分布
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| 12 | 先天性筋無力症候群 [神] 💬 "Congenital myasthenic syndrome", "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" | 7 7 trials | 3 / 0 / 0 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 8 8 genes | 16 pathways | 18 18人年齢分布
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| 13 | 多発性硬化症／視神経脊髄炎 [神] 💬 "Multiple sclerosis/Neuromyelitis optica", "Multiple sclerosis", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" | 3,898 3,898 trials | 279 / 776 / 1367 / 423 💬 | 2,785 2,785 drugs [ 360 360 drugs ] | 265 265 genes | 239 pathways | 25200 25,200人年齢分布
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| 14 | 慢性炎症性脱髄性多発神経炎／多巣性運動ニューロパチー [神] 💬 "Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating polyradiculoneuropathy", "CIDP", "Multifocal motor neuropathy" | 302 302 trials | 3 / 130 / 132 / 11 💬 | 231 231 drugs [ 32 32 drugs ] | 16 16 genes | 67 pathways | 5640 5,640人年齢分布
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| 15 | 封入体筋炎 [神] 💬 "Inclusion body myositis" | 49 49 trials | 6 / 18 / 24 / 0 💬 | 73 73 drugs [ 19 19 drugs ] | 14 14 genes | 134 pathways | 937 937人年齢分布
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| 16 | クロウ・深瀬症候群 [神] 💬 "Crow-Fukase syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "POEMS syndrome", "Takatsuki disease", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome", "PEP syndrome" | 19 19 trials | 1 / 11 / 2 / 1 💬 | 24 24 drugs [ 11 11 drugs ] | 6 6 genes | 83 pathways | 281 281人年齢分布
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| 17 | 多系統萎縮症 [神] 💬 "Multiple system atrophy", "MSA", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" | 171 171 trials | 14 / 48 / 18 / 0 💬 | 202 202 drugs [ 51 51 drugs ] | 58 58 genes | 114 pathways | 10170 10,170人年齢分布
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| 18 | 脊髄小脳変性症（多系統萎縮症を除く。） [神] 💬 "Spinocerebellar degeneration", "SCD", "Spinocerebellar ataxia", "SCA", "Machado-Joseph disease", "MJD", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysian atrophy", "DRPLA", "Naito-Koyanagi disease", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EAOH", "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" | 144 144 trials | 27 / 63 / 32 / 4 💬 | 174 174 drugs [ 40 40 drugs ] | 50 50 genes | 75 pathways | 26493 26,493人年齢分布
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| 19 | ライソゾーム病 [代] 💬 "Lysosomal storage disease", "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", "Krabbe syndrome", "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", "Schindler syndrome", "Kanzaki disease", "Kanzaki syndrome", "Pompe disease", "Pompe syndrome", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Danon syndrome", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Salla syndrome", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" | 1,038 1,038 trials | 231 / 391 / 348 / 62 💬 | 873 873 drugs [ 121 121 drugs ] | 63 63 genes | 195 pathways | 1837 1,837人年齢分布
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| 20 | 副腎白質ジストロフィー [代] 💬 "Adrenoleukodystrophy", "ALD", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral ALD", "AdoCALD", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral ALD", "ACALD" | 71 71 trials | 10 / 30 / 29 / 1 💬 | 100 100 drugs [ 29 29 drugs ] | 22 22 genes | 125 pathways | 260 260人年齢分布
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| 21 | ミトコンドリア病 [代] 💬 "Mitochondrial disease", "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" | 108 108 trials | 13 / 50 / 33 / 2 💬 | 107 107 drugs [ 35 35 drugs ] | 48 48 genes | 110 pathways | 1672 1,672人年齢分布
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| 22 | もやもや病 [神] 💬 "Moyamoya disease", "Occlusive disease in circle of Willis" | 36 36 trials | 8 / 3 / 1 / 5 💬 | 44 44 drugs [ 26 26 drugs ] | 36 36 genes | 37 pathways | 13916 13,916人年齢分布
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| 23 | プリオン病 [神] 💬 "Prion disease", "Creutzfeldt-Jakob disease", "CJD", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" | 8 8 trials | 2 / 2 / 2 / 0 💬 | 13 13 drugs [ 3 3 drugs ] | 0 - | 443 443人年齢分布
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| 24 | 亜急性硬化性全脳炎 [神] 💬 "Subacute sclerosing panencephalitis", "SSPE" | 0 - | 0 - | 0 - | 46 46人年齢分布
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| 25 | 進行性多巣性白質脳症 [神] 💬 "Progressive multifocal leukoencephalopathy", "PML", "Leukoencephalopathy, progressive multifocal" | 31 31 trials | 1 / 11 / 1 / 1 💬 | 42 42 drugs [ 23 23 drugs ] | 7 7 genes | 37 pathways | 91 91人年齢分布
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| 26 | HTLV-1関連脊髄症 [神] 💬 "HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I", "HAM" | 33 33 trials | 8 / 17 / 9 / 3 💬 | 60 60 drugs [ 31 31 drugs ] | 33 33 genes | 113 pathways | 1042 1,042人年齢分布
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| 27 | 特発性基底核石灰化症 [神] 💬 "Idiopathic basal ganglia calcification", "IBGC", "Familial IBGC", "FIBGC", "Primary familial brain calcification", "PFBC", "Fahr disease" | 2 2 trials | 0 / 2 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 152 152人年齢分布
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| 28 | 全身性アミロイドーシス [代] 💬 "Systemic amyloidosis", "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", "Transthyretin amyloid cardiomyopathy", "ATTR-CM", "Hereditary transthyretin amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP", "Transthyretin amyloid cardiomyopathy", "ATTR-CM", "Hereditary systemic amyloidosis" | 454 454 trials | 56 / 155 / 203 / 11 💬 | 430 430 drugs [ 90 90 drugs ] | 66 66 genes | 183 pathways | 8169 8,169人年齢分布
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| 29 | ウルリッヒ病 [神] 💬 "Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" | 0 - | 0 - | 0 - | 23 23人年齢分布
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| 30 | 遠位型ミオパチー [神] 💬 "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" | 13 13 trials | 1 / 3 / 10 / 0 💬 | 16 16 drugs [ 2 2 drugs ] | 1 1 gene | 1 pathway | 404 404人年齢分布
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| 31 | ベスレムミオパチー [神] 💬 "Bethlem myopathy", "Beth Rem myopathy" | 0 - | 0 - | 0 - | 26 26人年齢分布
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| 32 | 自己貪食空胞性ミオパチー [神] 💬 "Autophagic vacuolar myopathy", "Danon disease", "Danon syndrome", "X-linked myopathy with excessive autophagy", "XMEA" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 10 10人年齢分布
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| 33 | シュワルツ・ヤンペル症候群 [神] 💬 "Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 34 | 神経線維腫症 [皮] 💬 "Neurofibromatosis", "Neurofibromatosis type 1", "NF1", "Recklinghausen disease", "Neurofibromatosis type 2", "NF2" | 179 179 trials | 51 / 106 / 14 / 7 💬 | 259 259 drugs [ 84 84 drugs ] | 90 90 genes | 211 pathways | 4165 4,165人年齢分布
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| 35 | 天疱瘡 [皮] 💬 "Pemphigus" | 130 130 trials | 10 / 35 / 52 / 6 💬 | 159 159 drugs [ 46 46 drugs ] | 28 28 genes | 174 pathways | 3133 3,133人年齢分布
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| 36 | 表皮水疱症 [皮] 💬 "Epidermolysis bullosa", "Kindler syndrome" | 197 197 trials | 57 / 110 / 56 / 3 💬 | 223 223 drugs [ 46 46 drugs ] | 53 53 genes | 136 pathways | 293 293人年齢分布
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| 37 | 膿疱性乾癬（汎発型） [皮] 💬 "Generalised pustular psoriasis", "GPP", "Pustular psoriasis", "Herpetic impetigo" | 95 95 trials | 3 / 31 / 44 / 5 💬 | 62 62 drugs [ 21 21 drugs ] | 21 21 genes | 101 pathways | 2340 2,340人年齢分布
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| 38 | スティーヴンス・ジョンソン症候群 [皮] 💬 "Stevens-Johnson syndrome", "SJS", "Mucocutaneous ocular syndrome" | 20 20 trials | 7 / 11 / 3 / 2 💬 | 29 29 drugs [ 10 10 drugs ] | 15 15 genes | 100 pathways | 190 190人年齢分布
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| 39 | 中毒性表皮壊死症 [皮] 💬 "Toxic epidermal necrolysis", "Toxic epidermal necrosis", "TEN" | 17 17 trials | 3 / 4 / 0 / 1 💬 | 22 22 drugs [ 10 10 drugs ] | 11 11 genes | 103 pathways | 84 84人年齢分布
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| 40 | 高安動脈炎 [免] 💬 "Takayasu arteritis", "Aortitis syndrome", "Pulseless disease", "Aortitis syndrome" | 41 41 trials | 0 / 8 / 9 / 11 💬 | 66 66 drugs [ 30 30 drugs ] | 35 35 genes | 126 pathways | 4720 4,720人年齢分布
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| 41 | 巨細胞性動脈炎 [免] 💬 "Giant cell arteritis", "Temporal arteritis" | 160 160 trials | 5 / 39 / 83 / 7 💬 | 183 183 drugs [ 35 35 drugs ] | 32 32 genes | 125 pathways | 3393 3,393人年齢分布
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| 42 | 結節性多発動脈炎 [免] 💬 "Polyarteritis nodosa", "PAN" | 15 15 trials | 0 / 3 / 6 / 2 💬 | 26 26 drugs [ 15 15 drugs ] | 26 26 genes | 105 pathways | 2097 2,097人年齢分布
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| 43 | 顕微鏡的多発血管炎 [免] 💬 "Microscopic polyangiitis", "MPA", "Glomerulonephritis" | 101 101 trials | 3 / 33 / 43 / 9 💬 | 94 94 drugs [ 22 22 drugs ] | 14 14 genes | 87 pathways | 12920 12,920人年齢分布
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| 44 | 多発血管炎性肉芽腫症 [免] 💬 "Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" | 132 132 trials | 1 / 11 / 47 / 4 💬 | 136 136 drugs [ 34 34 drugs ] | 23 23 genes | 82 pathways | 3682 3,682人年齢分布
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| 45 | 好酸球性多発血管炎性肉芽腫症 [免] 💬 "Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" | 50 50 trials | 2 / 5 / 1 / 1 💬 | 56 56 drugs [ 19 19 drugs ] | 19 19 genes | 100 pathways | 8670 8,670人年齢分布
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| 46 | 悪性関節リウマチ [免] 💬 "Malignant rheumatoid arthritis", "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV" | 4,743 4,743 trials | 401 / 956 / 1174 / 586 💬 | 3,042 3,042 drugs [ 389 389 drugs ] | 205 205 genes | 253 pathways | 4638 4,638人年齢分布
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| 47 | バージャー病 [循] 💬 "Buerger disease", "Thromboangiitis obliterans" | 21 21 trials | 2 / 3 / 1 / 2 💬 | 26 26 drugs [ 14 14 drugs ] | 7 7 genes | 19 pathways | 1309 1,309人年齢分布
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| 48 | 原発性抗リン脂質抗体症候群 [免] 💬 "Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS", "Antiphospholipid syndrome" | 96 96 trials | 13 / 31 / 9 / 9 💬 | 112 112 drugs [ 22 22 drugs ] | 20 20 genes | 138 pathways | 1283 1,283人年齢分布
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| 49 | 全身性エリテマトーデス [免] 💬 "Systemic lupus erythematosus", "SLE" | 1,414 1,414 trials | 241 / 455 / 313 / 86 💬 | 1,077 1,077 drugs [ 181 181 drugs ] | 130 130 genes | 209 pathways | 66910 66,910人年齢分布
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| 50 | 皮膚筋炎／多発性筋炎 [免] 💬 "Dermatomyositis", "Polymyositis", "Idiopathic inflammatory myositis", "IIM" | 264 264 trials | 14 / 102 / 76 / 11 💬 | 298 298 drugs [ 66 66 drugs ] | 71 71 genes | 173 pathways | 27784 27,784人年齢分布
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| 51 | 全身性強皮症 [免] 💬 "Scleroderma", "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" | 740 740 trials | 73 / 291 / 139 / 27 💬 | 813 813 drugs [ 165 165 drugs ] | 140 140 genes | 231 pathways | 27013 27,013人年齢分布
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| 52 | 混合性結合組織病 [免] 💬 "Mixed connective tissue disease" | 13 13 trials | 0 / 4 / 0 / 0 💬 | 10 10 drugs [ 4 4 drugs ] | 1 1 gene | 1 pathway | 10229 10,229人年齢分布
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| 53 | シェーグレン症候群 [免] 💬 "Sjogren syndrome", "Sjögren syndrome", "Syndrome Sjogren's", "Autoimmune exocrinopathy" | 448 448 trials | 34 / 199 / 64 / 29 💬 | 436 436 drugs [ 104 104 drugs ] | 68 68 genes | 185 pathways | 21395 21,395人年齢分布
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| 54 | 成人発症スチル病 [免] 💬 "Adult still disease", "Adult-onset Still's disease" | 31 31 trials | 1 / 9 / 5 / 1 💬 | 39 39 drugs [ 15 15 drugs ] | 12 12 genes | 116 pathways | 4965 4,965人年齢分布
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| 55 | 再発性多発軟骨炎 [免] 💬 "Relapsing polychondritis" | 10 10 trials | 2 / 4 / 0 / 0 💬 | 13 13 drugs [ 9 9 drugs ] | 9 9 genes | 98 pathways | 1141 1,141人年齢分布
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| 56 | ベーチェット病 [免] 💬 "Behcet disease", "Behçet disease", "BD", "Behçet syndrome", "Silk Road disease" | 110 110 trials | 5 / 29 / 32 / 5 💬 | 137 137 drugs [ 40 40 drugs ] | 40 40 genes | 125 pathways | 15085 15,085人年齢分布
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| 57 | 特発性拡張型心筋症 [循] 💬 "Idiopathic dilated cardiomyopathy", "Dilated cardiomyopathy", "DCM" | 148 148 trials | 26 / 46 / 33 / 12 💬 | 217 217 drugs [ 60 60 drugs ] | 46 46 genes | 143 pathways | 17960 17,960人年齢分布
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| 58 | 肥大型心筋症 [循] 💬 "Hypertrophic cardiomyopathy", "HCM" | 227 227 trials | 13 / 73 / 69 / 16 💬 | 219 219 drugs [ 49 49 drugs ] | 51 51 genes | 190 pathways | 4466 4,466人年齢分布
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| 59 | 拘束型心筋症 [循] 💬 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 0 - ] | 0 - | 65 65人年齢分布
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| 60 | 再生不良性貧血 [血] 💬 "Aplastic anemia" | 357 357 trials | 56 / 190 / 37 / 42 💬 | 477 477 drugs [ 94 94 drugs ] | 57 57 genes | 184 pathways | 8490 8,490人年齢分布
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| 61 | 自己免疫性溶血性貧血 [血] 💬 "Autoimmune hemolytic anemia", "AIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Evans syndrome" | 218 218 trials | 27 / 85 / 85 / 4 💬 | 186 186 drugs [ 42 42 drugs ] | 27 27 genes | 158 pathways | 1536 1,536人年齢分布
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| 62 | 発作性夜間ヘモグロビン尿症 [血] 💬 "Paroxysmal nocturnal hemoglobinuria", "PNH" | 380 380 trials | 34 / 115 / 203 / 5 💬 | 240 240 drugs [ 38 38 drugs ] | 28 28 genes | 122 pathways | 1264 1,264人年齢分布
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| 63 | 特発性血小板減少性紫斑病 [血] 💬 "Idiopathic thrombocytopenic purpura", "Immune thrombocytopenia", "Primary immune thrombocytopenia", "Autoimmune thrombocytopenic purpura", "Immune thrombocytopenic purpura" | 868 868 trials | 65 / 231 / 314 / 60 💬 | 544 544 drugs [ 96 96 drugs ] | 82 82 genes | 195 pathways | 16592 16,592人年齢分布
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| 64 | 血栓性血小板減少性紫斑病 [血] 💬 "Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS" | 114 114 trials | 6 / 34 / 54 / 3 💬 | 119 119 drugs [ 17 17 drugs ] | 16 16 genes | 63 pathways | 438 438人年齢分布
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| 65 | 原発性免疫不全症候群 [血] 💬 "Primary immunodeficiency", "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", "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" | 866 866 trials | 133 / 273 / 341 / 54 💬 | 858 858 drugs [ 122 122 drugs ] | 108 108 genes | 232 pathways | 2289 2,289人年齢分布
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| 66 | IgＡ腎症 [腎] 💬 "IgA nephropathy", "IgA nephritis", "Berger disease", "IgA-IgG nephropathy", "Glomerulonephritis" | 407 407 trials | 21 / 129 / 123 / 43 💬 | 342 342 drugs [ 73 73 drugs ] | 40 40 genes | 146 pathways | 15355 15,355人年齢分布
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| 67 | 多発性嚢胞腎 [腎] 💬 "Polycystic kidney disease", "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant polycystic kidney disease", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive polycystic kidney disease", "Autosomal recessive PKD", "ARPKD" | 251 251 trials | 23 / 78 / 100 / 15 💬 | 278 278 drugs [ 69 69 drugs ] | 97 97 genes | 182 pathways | 13912 13,912人年齢分布
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| 68 | 黄色靱帯骨化症 [骨] 💬 "Ossification of the ligamentum flavum", "Ossification of ligamentum flavum", "Ossified ligamentum flavum", "OLF" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 4 4 drugs ] | 1 1 gene | 4 pathways | 6692 6,692人年齢分布
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| 69 | 後縦靱帯骨化症 [骨] 💬 "Ossification of posterior longitudinal ligament", "Ossification of the posterior longitudinal ligament of spine" | 3 3 trials | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 32084 32,084人年齢分布
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| 70 | 広範脊柱管狭窄症 [骨] 💬 "Spinal stenosis", "Extensive spinal canal stenosis" | 146 146 trials | 9 / 15 / 9 / 40 💬 | 244 244 drugs [ 71 71 drugs ] | 96 96 genes | 110 pathways | 4715 4,715人年齢分布
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| 71 | 特発性大腿骨頭壊死症 [骨] 💬 "Idiopathic osteonecrosis of the femoral head", "Idiopathic femoral head necrosis", "Osteonecrosis of the femoral head" | 45 45 trials | 5 / 7 / 5 / 2 💬 | 49 49 drugs [ 23 23 drugs ] | 15 15 genes | 40 pathways | 19809 19,809人年齢分布
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| 72 | 下垂体性ADH分泌異常症 [内] 💬 "Pituitary ADH secretion disorder", "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Disorders of antidiuretic hormone (ADH) secretion", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" | 49 49 trials | 2 / 11 / 16 / 3 💬 | 39 39 drugs [ 10 10 drugs ] | 6 6 genes | 10 pathways | 3997 3,997人年齢分布
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| 73 | 下垂体性TSH分泌亢進症 [内] 💬 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism", "Pituitary TSH hypersecretion" | 1 1 trial | 0 / 0 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 2 2 genes | 5 pathways | 237 237人年齢分布
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| 74 | 下垂体性PRL分泌亢進症 [内] 💬 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma", "Hyperprolactinemia" | 55 55 trials | 6 / 11 / 4 / 9 💬 | 76 76 drugs [ 19 19 drugs ] | 17 17 genes | 83 pathways | 2196 2,196人年齢分布
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| 75 | クッシング病 [内] 💬 "Cushing disease", "Cushing syndrome" | 231 231 trials | 5 / 76 / 85 / 22 💬 | 224 224 drugs [ 47 47 drugs ] | 63 63 genes | 145 pathways | 999 999人年齢分布
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| 76 | 下垂体性ゴナドトロピン分泌亢進症 [内] 💬 "Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Abnormal pituitary gonadotropin secretion", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 41 41 trials | 0 / 0 / 13 / 12 💬 | 46 46 drugs [ 11 11 drugs ] | 5 5 genes | 15 pathways | 28 28人年齢分布
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| 77 | 下垂体性成長ホルモン分泌亢進症 [内] 💬 "Growth hormone secreting pituitary adenoma", "Excessive secretion of growth hormone", "Pituitary growth hormone secretion hyperthyroidism", "Acromegaly" | 360 360 trials | 18 / 83 / 119 / 35 💬 | 313 313 drugs [ 26 26 drugs ] | 26 26 genes | 87 pathways | 4389 4,389人年齢分布
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| 78 | 下垂体前葉機能低下症 [内] 💬 "Hypopituitarism", "Anterior pituitary hypothyroidism", "PRL deficiency" | 35 35 trials | 0 / 4 / 2 / 11 💬 | 59 59 drugs [ 11 11 drugs ] | 13 13 genes | 42 pathways | 19920 19,920人年齢分布
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| 79 | 家族性高コレステロール血症（ホモ接合体） [代] 💬 "Homozygous familial hypercholesterolemia", "Familial hypercholesterolemia", "Familial hypercholesterolaemia" | 525 525 trials | 18 / 85 / 285 / 19 💬 | 330 330 drugs [ 49 49 drugs ] | 20 20 genes | 59 pathways | 488 488人年齢分布
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| 80 | 甲状腺ホルモン不応症 [内] 💬 "Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" | 1 1 trial | 1 / 0 / 0 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 2 2 genes | 3 pathways | 50 50人年齢分布
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| 81 | 先天性副腎皮質酵素欠損症 [内] 💬 "Congenital adrenal hyperplasia", "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Aldosterone synthase deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency" | 107 107 trials | 11 / 50 / 45 / 3 💬 | 101 101 drugs [ 24 24 drugs ] | 14 14 genes | 71 pathways | 1113 1,113人年齢分布
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| 82 | 先天性副腎低形成症 [内] 💬 "Congenital adrenal hypoplasia", "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" | 0 - | 0 - | 0 - | 61 61人年齢分布
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| 83 | アジソン病 [内] 💬 "Addison disease", "Primary chronic adrenocortical insufficiency" | 23 23 trials | 0 / 5 / 2 / 5 💬 | 42 42 drugs [ 11 11 drugs ] | 3 3 genes | 7 pathways | 398 398人年齢分布
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| 84 | サルコイドーシス [呼] 💬 "Sarcoidosis" | 196 196 trials | 11 / 83 / 31 / 23 💬 | 261 261 drugs [ 78 78 drugs ] | 73 73 genes | 183 pathways | 16168 16,168人年齢分布
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| 85 | 特発性間質性肺炎 [呼] 💬 "Idiopathic interstitial pneumonia", "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" | 768 768 trials | 99 / 307 / 175 / 33 💬 | 558 558 drugs [ 126 126 drugs ] | 103 103 genes | 214 pathways | 22067 22,067人年齢分布
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| 86 | 肺動脈性肺高血圧症 [呼] 💬 "Pulmonary arterial hypertension", "PAH" | 1,348 1,348 trials | 95 / 311 / 494 / 121 💬 | 828 828 drugs [ 133 133 drugs ] | 82 82 genes | 197 pathways | 4910 4,910人年齢分布
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| 87 | 肺静脈閉塞症／肺毛細血管腫症 [呼] 💬 "Pulmonary veno-occlusive disease", "PVOD", "Pulmonary capillary hemangiomatosis", "PCH" | 3 3 trials | 1 / 1 / 0 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 4 4 genes | 47 pathways | 21 21人年齢分布
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| 88 | 慢性血栓塞栓性肺高血圧症 [呼] 💬 "Chronic thromboembolic pulmonary hypertension", "CTEPH", "Idiopathic chronic pulmonary thromboembolism" | 187 187 trials | 0 / 33 / 62 / 3 💬 | 144 144 drugs [ 24 24 drugs ] | 18 18 genes | 82 pathways | 5808 5,808人年齢分布
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| 89 | リンパ脈管筋腫症 [呼] 💬 "Lymphangioleiomyomatosis", "LAM" | 44 44 trials | 10 / 19 / 8 / 1 💬 | 54 54 drugs [ 19 19 drugs ] | 27 27 genes | 143 pathways | 983 983人年齢分布
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| 90 | 網膜色素変性症 [視] 💬 "Retinitis pigmentosa", "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" | 203 203 trials | 83 / 105 / 52 / 0 💬 | 267 267 drugs [ 49 49 drugs ] | 55 55 genes | 162 pathways | 19991 19,991人年齢分布
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| 91 | バッド・キアリ症候群 [消] 💬 "Budd-Chiari syndrome", "BCS" | 4 4 trials | 0 / 0 / 0 / 1 💬 | 5 5 drugs [ 4 4 drugs ] | 4 4 genes | 12 pathways | 222 222人年齢分布
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| 92 | 特発性門脈圧亢進症 [消] 💬 "Idiopathic portal hypertension", "Banti syndrome" | 0 - | 0 - | 0 - | 331 331人年齢分布
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| 93 | 原発性胆汁性胆管炎 [消] 💬 "Primary biliary cholangitis", "Primary biliary cirrhosis", "PBC" | 371 371 trials | 25 / 151 / 124 / 44 💬 | 286 286 drugs [ 56 56 drugs ] | 35 35 genes | 105 pathways | 16077 16,077人年齢分布
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| 94 | 原発性硬化性胆管炎 [消] 💬 "Primary sclerosing cholangitis", "PSC" | 189 189 trials | 23 / 81 / 52 / 1 💬 | 159 159 drugs [ 46 46 drugs ] | 22 22 genes | 148 pathways | 1294 1,294人年齢分布
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| 95 | 自己免疫性肝炎 [消] 💬 "Autoimmune hepatitis" | 63 63 trials | 4 / 26 / 13 / 7 💬 | 80 80 drugs [ 30 30 drugs ] | 24 24 genes | 116 pathways | 7453 7,453人年齢分布
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| 96 | クローン病 [消] 💬 "Crohn disease", "CD", "Terminal ileitis", "Inflammatory bowel disease", "IBD" | 2,888 2,888 trials | 164 / 767 / 1071 / 242 💬 | 1,678 1,678 drugs [ 247 247 drugs ] | 193 193 genes | 234 pathways | 53654 53,654人年齢分布
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| 97 | 潰瘍性大腸炎 [消] 💬 "Ulcerative colitis", "UC", "Inflammatory bowel disease", "IBD" | 3,566 3,566 trials | 182 / 978 / 1058 / 196 💬 | 2,369 2,369 drugs [ 339 339 drugs ] | 210 210 genes | 245 pathways | 151631 151,631人年齢分布
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| 98 | 好酸球性消化管疾患 [消] 💬 "Eosinophilic gastro-intestinal disorder", "Eosinophilic gastrointestinal disorder", "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" | 222 222 trials | 12 / 76 / 101 / 13 💬 | 226 226 drugs [ 48 48 drugs ] | 48 48 genes | 146 pathways | 1512 1,512人年齢分布
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| 99 | 慢性特発性偽性腸閉塞症 [消] 💬 "Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP" | 8 8 trials | 0 / 6 / 0 / 0 💬 | 13 13 drugs [ 3 3 drugs ] | 1 1 gene | 5 pathways | 207 207人年齢分布
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| 100 | 巨大膀胱短小結腸腸管蠕動不全症 [消] 💬 "Megacystis microcolon intestinal hypoperistalsis syndrome", "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" | 0 - | 0 - | 0 - | 2 2人年齢分布
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| 101 | 腸管神経節細胞僅少症 [消] 💬 "Congenital isolated hypoganglionosis", "Isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" | 0 - | 0 - | 0 - | 23 23人年齢分布
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| 102 | ルビンシュタイン・テイビ症候群 [染] 💬 "Rubinstein-Taybi syndrome", "RSTS", "Histone acetylation disorder" | 4 4 trials | 0 / 2 / 0 / 0 💬 | 9 9 drugs [ 0 - ] | 0 - | 13 13人年齢分布
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| 103 | CFC症候群 [染] 💬 "Cardio-facio-cutaneous syndrome", "Cardiofaciocutaneous syndrome", "CFC syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 104 | コステロ症候群 [染] 💬 "Costello syndrome" | 0 - | 0 - | 0 - | 13 13人年齢分布
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| 105 | チャージ症候群 [染] 💬 "CHARGE syndrome" | 0 - | 0 - | 0 - | 43 43人年齢分布
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| 106 | クリオピリン関連周期熱症候群 [免] 💬 "Cryopyrin-associated periodic syndrome", "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" | 57 57 trials | 4 / 10 / 16 / 0 💬 | 38 38 drugs [ 5 5 drugs ] | 4 4 genes | 47 pathways | 107 107人年齢分布
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| 107 | 若年性特発性関節炎 [免] 💬 "Juvenile idiopathic arthritis", "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" | 500 500 trials | 43 / 61 / 196 / 42 💬 | 338 338 drugs [ 52 52 drugs ] | 65 65 genes | 157 pathways | 1340 1,340人年齢分布
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| 108 | TNF受容体関連周期性症候群 [免] 💬 "TNF receptor-associated periodic syndrome", "Tumor necrosis factor receptor-associated periodic syndrome" | 13 13 trials | 0 / 1 / 9 / 0 💬 | 8 8 drugs [ 1 1 drug ] | 1 1 gene | 43 pathways | 36 36人年齢分布
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| 109 | 非典型溶血性尿毒症症候群 [腎] 💬 "Atypical hemolytic uremic syndrome", "Atypical HUS", "aHUS" | 130 130 trials | 0 / 32 / 49 / 6 💬 | 44 44 drugs [ 5 5 drugs ] | 2 2 genes | 11 pathways | 112 112人年齢分布
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| 110 | ブラウ症候群 [免] 💬 "Blau syndrome", "Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS" | 3 3 trials | 0 / 0 / 0 / 1 💬 | 3 3 drugs [ 1 1 drug ] | 4 4 genes | 39 pathways | 25 25人年齢分布
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| 111 | 先天性ミオパチー [神] 💬 "Congenital myopathy", "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Multi-minicore disease", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy", "Congenital fiber-type disproportion" | 13 13 trials | 7 / 9 / 2 / 1 💬 | 37 37 drugs [ 7 7 drugs ] | 2 2 genes | 53 pathways | 405 405人年齢分布
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| 112 | マリネスコ・シェーグレン症候群 [神] 💬 "Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts" | 0 - | 0 - | 0 - | 6 6人年齢分布
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| 113 | 筋ジストロフィー [神] 💬 "Muscular dystrophy", "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", "WWS", "Muscle-Eye-Brain disease", "MEB 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" | 826 826 trials | 184 / 318 / 292 / 11 💬 | 680 680 drugs [ 126 126 drugs ] | 86 86 genes | 188 pathways | 5920 5,920人年齢分布
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| 114 | 非ジストロフィー性ミオトニー症候群 [神] 💬 "Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Thomsen syndrome", "Autosomal-dominant myotonia congenita", "Becker disease", "Becker syndrome", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia" | 13 13 trials | 0 / 3 / 4 / 0 💬 | 17 17 drugs [ 3 3 drugs ] | 6 6 genes | 5 pathways | 34 34人年齢分布
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| 115 | 遺伝性周期性四肢麻痺 [神] 💬 "Hereditary periodic paralysis", "Periodic paralysis", "Hereditary hypokalemic periodic paralysis", "Andersen-Tawil syndrome", "Hereditary hyperkalemic periodic paralysis" | 11 11 trials | 1 / 3 / 2 / 1 💬 | 20 20 drugs [ 7 7 drugs ] | 20 20 genes | 13 pathways | 77 77人年齢分布
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| 116 | アトピー性脊髄炎 [神] 💬 "Atopic myelitis", "Idiopathic eosinophilic myelitis" | 0 - | 0 - | 0 - | 66 66人年齢分布
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| 117 | 脊髄空洞症 [神] 💬 "Syringomyelia" | 5 5 trials | 1 / 4 / 0 / 0 💬 | 7 7 drugs [ 2 2 drugs ] | 1 1 gene | 66 pathways | 647 647人年齢分布
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| 118 | 脊髄髄膜瘤 [神] 💬 "Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele", "Neural tube defects" | 18 18 trials | 2 / 2 / 2 / 1 💬 | 34 34 drugs [ 12 12 drugs ] | 13 13 genes | 53 pathways | 177 177人年齢分布
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| 119 | アイザックス症候群 [神] 💬 "Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" | 0 - | 0 - | 0 - | 118 118人年齢分布
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| 120 | 遺伝性ジストニア [神] 💬 "Hereditary dystonia", "Primary dystonia", "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" | 5 5 trials | 1 / 0 / 0 / 0 💬 | 6 6 drugs [ 3 3 drugs ] | 17 17 genes | 26 pathways | 148 148人年齢分布
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| 121 | 脳内鉄沈着神経変性症 [神] 💬 "Neurodegeneration with brain iron accumulation", "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", "Neuroferritinopathy", "FTL", "NBIA3", "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", "KRS", "Woodhouse-Sakati syndrome", "DDB1 and CLUL4 associated factor 17", "DCAF17", "Hypogonadism, alopecia, diabetes mellitus, intellectual disability, and extrapyramidal syndrome" | 30 30 trials | 1 / 3 / 18 / 1 💬 | 31 31 drugs [ 4 4 drugs ] | 4 4 genes | 109 pathways | 14 14人年齢分布
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| 122 | 脳表ヘモジデリン沈着症 [神] 💬 "Superficial siderosis", "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 8 8 drugs [ 2 2 drugs ] | 0 - | 254 254人年齢分布
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| 123 | HTRA1関連脳小血管病 [神] 💬 "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy", "CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy", "HTRA1-related cerebral small vessel disease", "HRSVD" | 0 - | 0 - | 0 - | 14 14人年齢分布
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| 124 | 皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 [神] 💬 "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" | 19 19 trials | 1 / 11 / 0 / 0 💬 | 24 24 drugs [ 11 11 drugs ] | 6 6 genes | 24 pathways | 282 282人年齢分布
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| 125 | 神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症 [神] 💬 "Hereditary diffuse leukoencephalopathy with spheroid", "HDLS", "Hereditary diffuse leukoencephalopathy" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 8 8 drugs [ 0 - ] | 0 - | 78 78人年齢分布
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| 126 | ペリー病 [神] 💬 "Perry disease", "Perry syndrome" | 0 - | 0 - | 0 - | 4 4人年齢分布
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| 127 | 前頭側頭葉変性症 [神] 💬 "Frontotemporal lobar degeneration", "Frontotemporal dementia, behavioral abnormal type", "Frontotemporal dementia", "Semantic dementia" | 137 137 trials | 25 / 49 / 30 / 6 💬 | 175 175 drugs [ 35 35 drugs ] | 44 44 genes | 112 pathways | 1513 1,513人年齢分布
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| 128 | ビッカースタッフ脳幹脳炎 [神] 💬 "Bickerstaff brainstem encephalitis" | 0 - | 0 - | 0 - | 153 153人年齢分布
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| 129 | 痙攣重積型（二相性）急性脳症 [神] 💬 "Acute encephalopathy with biphasic seizures and late reduced diffusion", "AESD", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" | 2 2 trials | 0 / 2 / 1 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 48 48人年齢分布
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| 130 | 先天性無痛無汗症 [神] 💬 "Congenital insensitivity to pain with anhydrosis", "CIPA", "Congenital pain insensitivity with anhidrosis", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" | 0 - | 0 - | 0 - | 45 45人年齢分布
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| 131 | アレキサンダー病 [神] 💬 "Alexander disease", "ALXDRD", "AxD" | 5 5 trials | 3 / 3 / 4 / 0 💬 | 6 6 drugs [ 2 2 drugs ] | 0 - | 55 55人年齢分布
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| 132 | 先天性核上性球麻痺 [神] 💬 "Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 133 | メビウス症候群 [神] 💬 "Moebius syndrome", "Mobius syndrome", "Möbius syndrome" | 0 - | 0 - | 0 - | 16 16人年齢分布
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| 134 | 中隔視神経形成異常症／ドモルシア症候群 [視] 💬 "Septo-optic dysplasia", "De Morsier syndrome" | 3 3 trials | 0 / 0 / 1 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 1 1 gene | 3 pathways | 16 16人年齢分布
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| 135 | アイカルディ症候群 [神] 💬 "Aicardi syndrome" | 2 2 trials | 0 / 2 / 1 / 0 💬 | 12 12 drugs [ 4 4 drugs ] | 2 2 genes | 37 pathways | 12 12人年齢分布
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| 136 | 片側巨脳症 [神] 💬 "Hemimegalencephaly", "Unilateral megalencephaly" | 1 1 trial | 1 / 1 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 27 27人年齢分布
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| 137 | 限局性皮質異形成 [神] 💬 "Focal cortical dysplasia", "FCD" | 17 17 trials | 3 / 9 / 1 / 0 💬 | 16 16 drugs [ 6 6 drugs ] | 8 8 genes | 72 pathways | 102 102人年齢分布
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| 138 | 神経細胞移動異常症 [神] 💬 "Nerve cell migration disorder", "Lissencephaly", "Neuronal migration defect", "Neuronal migration disorder", "Lissencephaly", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "orencephaly", "Miller-Dieker syndrome" | 2 2 trials | 0 / 2 / 0 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 1 1 gene | 106 pathways | 95 95人年齢分布
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| 139 | 先天性大脳白質形成不全症 [神] 💬 "Congenital cerebral hypomyelination", "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", "Hirschsprung syndrome" | 14 14 trials | 3 / 7 / 1 / 0 💬 | 9 9 drugs [ 4 4 drugs ] | 2 2 genes | 3 pathways | 53 53人年齢分布
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| 140 | ドラベ症候群 [神] 💬 "Dorabe syndrome", "Dravet syndrome" | 145 145 trials | 11 / 26 / 93 / 7 💬 | 74 74 drugs [ 16 16 drugs ] | 52 52 genes | 68 pathways | 113 113人年齢分布
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| 141 | 海馬硬化を伴う内側側頭葉てんかん [神] 💬 "Mesial temporal lobe epilepsy with hippocampal sclerosis", "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy" | 0 - | 0 - | 0 - | 82 82人年齢分布
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| 142 | ミオクロニー欠神てんかん [神] 💬 "Myoclonic absence epilepsy", "Epilepsy with myoclonic absence" | 0 - | 0 - | 0 - | 5 5人年齢分布
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| 143 | ミオクロニー脱力発作を伴うてんかん [神] 💬 "Epilepsy with myoclonic-atonic seizures", "Epilepsy with myoclonic cataplexy", "Myoclonic-astatic epilepsy", "Doose syndrome" | 3 3 trials | 0 / 2 / 1 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 5 5 genes | 11 pathways | 17 17人年齢分布
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| 144 | レノックス・ガストー症候群 [神] 💬 "Lennox-Gastaut syndrome" | 130 130 trials | 2 / 3 / 61 / 1 💬 | 79 79 drugs [ 14 14 drugs ] | 51 51 genes | 64 pathways | 461 461人年齢分布
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| 145 | ウエスト症候群 [神] 💬 "West syndrome", "Infantile spasm", "Infantile spasms", "Infantile spasms syndrome", "Infantile epileptic spasms", "Infantile epileptic spasms syndrome" | 52 52 trials | 1 / 19 / 19 / 7 💬 | 64 64 drugs [ 19 19 drugs ] | 42 42 genes | 48 pathways | 399 399人年齢分布
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| 146 | 大田原症候群 [神] 💬 "Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst" | 0 - | 0 - | 0 - | 16 16人年齢分布
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| 147 | 早期ミオクロニー脳症 [神] 💬 "Early myoclonic encephalopathy" | 0 - | 0 - | 0 - | 11 11人年齢分布
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| 148 | 遊走性焦点発作を伴う乳児てんかん [神] 💬 "Epilepsy of infancy with migrating focal seizures", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" | 1 1 trial | 1 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 16 16人年齢分布
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| 149 | 片側痙攣・片麻痺・てんかん症候群 [神] 💬 "Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome" | 55 55 trials | 6 / 7 / 10 / 5 💬 | 61 61 drugs [ 17 17 drugs ] | 19 19 genes | 40 pathways | 32 32人年齢分布
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| 150 | 環状20番染色体症候群 [神] 💬 "Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome" | 0 - | 0 - | 0 - | 11 11人年齢分布
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| 151 | ラスムッセン脳炎 [神] 💬 "Rasmussen encephalitis" | 2 2 trials | 0 / 1 / 1 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 6 6 genes | 85 pathways | 54 54人年齢分布
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| 152 | ＰＣＤＨ19関連症候群 [神] 💬 "PCDH19-related syndrome", "PCDH19-related epilepsy syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19 related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" | 10 10 trials | 0 / 4 / 5 / 0 💬 | 8 8 drugs [ 1 1 drug ] | 16 16 genes | 9 pathways | 13 13人年齢分布
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| 153 | 難治頻回部分発作重積型急性脳炎 [神] 💬 "Acute encephalitis with refractory 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" | 3 3 trials | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 3 3 genes | 22 pathways | 84 84人年齢分布
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| 154 | 徐波睡眠期持続性棘徐波を示すてんかん性脳症 [神] 💬 "Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep", "Rolandic epilepsy, mental retardation, and speech dyspraxia" | 8 8 trials | 0 / 8 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 0 - | 13 13人年齢分布
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| 155 | ランドウ・クレフナー症候群 [神] 💬 "Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome" | 1 1 trial | 0 / 1 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 29 29 genes | 15 pathways | 4 4人年齢分布
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| 156 | レット症候群 [神] 💬 "Rett syndrome" | 63 63 trials | 6 / 30 / 25 / 0 💬 | 79 79 drugs [ 29 29 drugs ] | 100 100 genes | 116 pathways | 136 136人年齢分布
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| 157 | スタージ・ウェーバー症候群 [神] 💬 "Sturge-Weber syndrome", "Síndrome de Sturge-Weber" | 11 11 trials | 3 / 7 / 1 / 1 💬 | 14 14 drugs [ 4 4 drugs ] | 5 5 genes | 66 pathways | 91 91人年齢分布
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| 158 | 結節性硬化症 [神] 💬 "Tuberous sclerosis", "Tuberous sclerosis complex", "TSC" | 132 132 trials | 5 / 35 / 57 / 10 💬 | 91 91 drugs [ 22 22 drugs ] | 41 41 genes | 119 pathways | 1165 1,165人年齢分布
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| 159 | 色素性乾皮症 [皮] 💬 "Xeroderma pigmentosum", "XP" | 12 12 trials | 1 / 9 / 1 / 0 💬 | 16 16 drugs [ 5 5 drugs ] | 7 7 genes | 17 pathways | 88 88人年齢分布
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| 160 | 先天性魚鱗癬 [皮] 💬 "Congenital ichthyosis", "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", "Austin syndrome", "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" | 63 63 trials | 17 / 27 / 14 / 2 💬 | 93 93 drugs [ 22 22 drugs ] | 21 21 genes | 144 pathways | 108 108人年齢分布
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| 161 | 家族性良性慢性天疱瘡 [皮] 💬 "Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease" | 6 6 trials | 2 / 3 / 0 / 0 💬 | 9 9 drugs [ 3 3 drugs ] | 2 2 genes | 29 pathways | 87 87人年齢分布
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| 162 | 類天疱瘡（後天性表皮水疱症を含む。） [皮] 💬 "Pemphigoid", "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Acquired epidermolysis bullosa" | 138 138 trials | 3 / 43 / 46 / 10 💬 | 154 154 drugs [ 53 53 drugs ] | 34 34 genes | 144 pathways | 4246 4,246人年齢分布
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| 163 | 特発性後天性全身性無汗症 [皮] 💬 "Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "Idiopathic pure sudomotor failure", "IPSF", "Sweat gland failure" | 0 - | 0 - | 0 - | 673 673人年齢分布
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| 164 | 眼皮膚白皮症 [視] 💬 "Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "HPS", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "CHS", "Griscelli syndrome" | 17 17 trials | 2 / 7 / 1 / 0 💬 | 57 57 drugs [ 32 32 drugs ] | 32 32 genes | 139 pathways | 32 32人年齢分布
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| 165 | 肥厚性皮膚骨膜症 [染] 💬 "Pachydermoperiostosis", "PDP", "Primary hypertrophic osteoarthropathy", "PHO" | 3 3 trials | 0 / 0 / 1 / 1 💬 | 2 2 drugs [ 1 1 drug ] | 1 1 gene | 22 pathways | 24 24人年齢分布
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| 166 | 弾性線維性仮性黄色腫 [皮] 💬 "Pseudoxanthoma elasticum", "PXE" | 21 21 trials | 4 / 14 / 3 / 1 💬 | 30 30 drugs [ 6 6 drugs ] | 5 5 genes | 27 pathways | 160 160人年齢分布
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| 167 | マルファン症候群／ロイス・ディーツ症候群 [循] 💬 "Marfan syndrome", "Loeys-Dietz syndrome", "LDS" | 26 26 trials | 0 / 4 / 12 / 2 💬 | 50 50 drugs [ 11 11 drugs ] | 10 10 genes | 52 pathways | 1411 1,411人年齢分布
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| 168 | エーラス・ダンロス症候群 [染] 💬 "Ehlers-Danlos syndrome", "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" | 17 17 trials | 1 / 2 / 7 / 3 💬 | 28 28 drugs [ 10 10 drugs ] | 12 12 genes | 106 pathways | 351 351人年齢分布
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| 169 | メンケス病 [代] 💬 "Menkes disease", "Menkes syndrome" | 9 9 trials | 3 / 3 / 1 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 9 9 genes | 16 pathways | 2 2人年齢分布
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| 170 | オクシピタル・ホーン症候群 [染] 💬 "Occipital horn syndrome" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 9 9 genes | 16 pathways | 2 2人年齢分布
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| 171 | ウィルソン病 [代] 💬 "Wilson disease", "WD" | 93 93 trials | 15 / 25 / 31 / 9 💬 | 104 104 drugs [ 18 18 drugs ] | 7 7 genes | 33 pathways | 789 789人年齢分布
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| 172 | 低ホスファターゼ症 [骨] 💬 "Hypophosphatasia" | 45 45 trials | 5 / 22 / 6 / 4 💬 | 38 38 drugs [ 8 8 drugs ] | 6 6 genes | 18 pathways | 71 71人年齢分布
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| 173 | ＶＡＴＥＲ症候群 [染] 💬 "VATER syndrome", "VATER association", "VACTERL association" | 0 - | 0 - | 0 - | 17 17人年齢分布
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| 174 | 那須・ハコラ病 [染] 💬 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | 0 - | 0 - | 0 - | 4 4人年齢分布
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| 175 | ウィーバー症候群 [染] 💬 "Weaver syndrome" | 0 - | 0 - | 0 - | - |
| 176 | コフィン・ローリー症候群 [染] 💬 "Coffin-Lowry syndrome" | 0 - | 0 - | 0 - | 6 6人年齢分布
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| 177 | ジュベール症候群関連疾患 [神] 💬 "Joubert syndrome related disorder", "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 0 - | 27 27人年齢分布
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| 178 | モワット・ウィルソン症候群 [染] 💬 "Mowat-Wilson syndrome" | 0 - | 0 - | 0 - | 18 18人年齢分布
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| 179 | ウィリアムズ症候群 [循] 💬 "Williams syndrome", "Williams-Beuren syndrome", "WBS" | 12 12 trials | 0 / 5 / 0 / 2 💬 | 21 21 drugs [ 8 8 drugs ] | 9 9 genes | 35 pathways | 62 62人年齢分布
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| 180 | ＡＴＲ－Ｘ症候群 [染] 💬 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome", "X-linked α-thalassemia/intellectual disability syndrome" | 1 1 trial | 0 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 7 7人年齢分布
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| 181 | クルーゾン症候群 [聴] 💬 "Crouzon syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 22 22人年齢分布
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| 182 | アペール症候群 [聴] 💬 "Apert syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 10 10人年齢分布
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| 183 | ファイファー症候群 [聴] 💬 "Pfeiffer syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 10 10人年齢分布
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| 184 | アントレー・ビクスラー症候群 [聴] 💬 "Antley-Bixler syndrome" | 0 - | 0 - | 0 - | 3 3人年齢分布
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| 185 | コフィン・シリス症候群 [染] 💬 "Coffin-Siris syndrome" | 0 - | 0 - | 0 - | 5 5人年齢分布
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| 186 | ロスムンド・トムソン症候群 [染] 💬 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 4 4人年齢分布
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| 187 | 歌舞伎症候群 [染] 💬 "Kabuki syndrome" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 1 1 drug ] | 2 2 genes | 13 pathways | 23 23人年齢分布
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| 188 | 多脾症候群 [循] 💬 "Polysplenia syndrome" | 0 - | 0 - | 0 - | 63 63人年齢分布
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| 189 | 無脾症候群 [循] 💬 "Asplenia syndrome" | 0 - | 0 - | 0 - | 104 104人年齢分布
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| 190 | 鰓耳腎症候群 [聴] 💬 "Branchio-oto-renal syndrome", "BOR syndrome" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 191 | ウェルナー症候群 [内] 💬 "Werner syndrome" | 4 4 trials | 2 / 2 / 0 / 0 💬 | 4 4 drugs [ 3 3 drugs ] | 0 - | 89 89人年齢分布
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| 192 | コケイン症候群 [染] 💬 "Cockayne syndrome", "CS" | 4 4 trials | 1 / 1 / 0 / 0 💬 | 6 6 drugs [ 2 2 drugs ] | 1 1 gene | 52 pathways | 6 6人年齢分布
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| 193 | プラダー・ウィリ症候群 [内] 💬 "Prader-Willi syndrome" | 140 140 trials | 8 / 50 / 58 / 10 💬 | 137 137 drugs [ 26 26 drugs ] | 51 51 genes | 64 pathways | 238 238人年齢分布
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| 194 | ソトス症候群 [染] 💬 "Sotos syndrome" | 0 - | 0 - | 0 - | 20 20人年齢分布
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| 195 | ヌーナン症候群 [染] 💬 "Noonan syndrome" | 38 38 trials | 0 / 2 / 24 / 1 💬 | 34 34 drugs [ 7 7 drugs ] | 5 5 genes | 98 pathways | 56 56人年齢分布
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| 196 | ヤング・シンプソン症候群 [染] 💬 "Young-Simpson syndrome" | 0 - | 0 - | 0 - | - |
| 197 | １ｐ36欠失症候群 [染] 💬 "1p36 deletion syndrome" | 0 - | 0 - | 0 - | 11 11人年齢分布
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| 198 | ４ｐ欠失症候群 [染] 💬 "4p deletion syndrome", "4p-syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 199 | ５ｐ欠失症候群 [染] 💬 "5p deletion syndrome", "5p-syndrome" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 200 | 第14番染色体父親性ダイソミー症候群 [染] 💬 "Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" | 0 - | 0 - | 0 - | 5 5人年齢分布
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| 201 | アンジェルマン症候群 [神] 💬 "Angelman syndrome" | 40 40 trials | 15 / 14 / 11 / 0 💬 | 48 48 drugs [ 11 11 drugs ] | 22 22 genes | 22 pathways | 38 38人年齢分布
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| 202 | スミス・マギニス症候群 [染] 💬 "Smith-Magenis syndrome" | 9 9 trials | 2 / 4 / 1 / 0 💬 | 10 10 drugs [ 3 3 drugs ] | 3 3 genes | 4 pathways | 4 4人年齢分布
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| 203 | 22ｑ11.2欠失症候群 [循] 💬 "22q11.2 deletion syndrome" | 5 5 trials | 2 / 1 / 1 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 14 14 genes | 24 pathways | 95 95人年齢分布
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| 204 | エマヌエル症候群 [染] 💬 "Emanuel syndrome", "Derivative 22 syndrome", "Partial trisomy (11:22)" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 205 | 脆弱Ｘ症候群関連疾患 [染] 💬 "Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome" | 5 5 trials | 0 / 2 / 1 / 0 💬 | 12 12 drugs [ 5 5 drugs ] | 7 7 genes | 25 pathways | 14 14人年齢分布
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| 206 | 脆弱Ｘ症候群 [染] 💬 "Fragile X syndrome" | 124 124 trials | 13 / 59 / 14 / 3 💬 | 103 103 drugs [ 35 35 drugs ] | 58 58 genes | 84 pathways | 1 1人年齢分布
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| 207 | 総動脈幹遺残症 [循] 💬 "Persistent truncus arteriosus", "Truncus arteriosus communis" | 0 - | 0 - | 0 - | 50 50人年齢分布
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| 208 | 修正大血管転位症 [循] 💬 "Corrected transposition of great arteries", "Congenitally corrected transposition of the great arteries" | 2 2 trials | 0 / 0 / 1 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 271 271人年齢分布
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| 209 | 完全大血管転位症 [循] 💬 "Complete transposition of great vessel", "Complete transposition of great arteries", "Complete TGA", "Complete transposition of the great arteries" | 0 - | 0 - | 0 - | 378 378人年齢分布
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| 210 | 単心室症 [循] 💬 "Single Ventricle", "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" | 61 61 trials | 11 / 15 / 25 / 4 💬 | 70 70 drugs [ 25 25 drugs ] | 35 35 genes | 78 pathways | 620 620人年齢分布
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| 211 | 左心低形成症候群 [循] 💬 "Hypoplastic left heart syndrome", "HLHS" | 25 25 trials | 10 / 7 / 1 / 0 💬 | 37 37 drugs [ 10 10 drugs ] | 5 5 genes | 13 pathways | 107 107人年齢分布
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| 212 | 三尖弁閉鎖症 [循] 💬 "Tricuspid atresia", "TA" | 5 5 trials | 1 / 0 / 0 / 0 💬 | 6 6 drugs [ 4 4 drugs ] | 8 8 genes | 13 pathways | 248 248人年齢分布
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| 213 | 心室中隔欠損を伴わない肺動脈閉鎖症 [循] 💬 "Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" | 0 - | 0 - | 0 - | 224 224人年齢分布
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| 214 | 心室中隔欠損を伴う肺動脈閉鎖症 [循] 💬 "Pulmonary atresia with ventricular septum defect", "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia" | 5 5 trials | 0 / 0 / 0 / 1 💬 | 6 6 drugs [ 6 6 drugs ] | 1 1 gene | 1 pathway | 172 172人年齢分布
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| 215 | ファロー四徴症 [循] 💬 "Tetralogy of Fallot", "Fallot tetralogy" | 28 28 trials | 3 / 5 / 2 / 2 💬 | 55 55 drugs [ 19 19 drugs ] | 16 16 genes | 50 pathways | 995 995人年齢分布
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| 216 | 両大血管右室起始症 [循] 💬 "Double-outlet right ventricle" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 9 9 drugs [ 2 2 drugs ] | 4 4 genes | 16 pathways | 405 405人年齢分布
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| 217 | エプスタイン病 [循] 💬 "Ebstein disease", "Ebstein malformation", "Ebstein anomaly" | 1 1 trial | 1 / 0 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 158 158人年齢分布
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| 218 | アルポート症候群 [腎] 💬 "Alport syndrome", "Glomerulonephritis" | 47 47 trials | 3 / 21 / 9 / 3 💬 | 49 49 drugs [ 23 23 drugs ] | 8 8 genes | 46 pathways | 326 326人年齢分布
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| 219 | ギャロウェイ・モワト症候群 [腎] 💬 "Galloway-Mowat syndrome" | 0 - | 0 - | 0 - | 2 2人年齢分布
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| 220 | 急速進行性糸球体腎炎 [腎] 💬 "Rapidly progressive glomerulonephritis", "RPGN", "Necrotizing crescentic glomerulonephritis", "NCGN", "Glomerulonephritis" | 0 - | 0 - | 0 - | 1440 1,440人年齢分布
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| 221 | 抗糸球体基底膜腎炎 [腎] 💬 "Anti-glomerular basement membrane disease", "Goodpasture syndrome", "Glomerulonephritis" | 9 9 trials | 0 / 3 / 1 / 0 💬 | 12 12 drugs [ 4 4 drugs ] | 2 2 genes | 22 pathways | 458 458人年齢分布
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| 222 | 一次性ネフローゼ症候群 [腎] 💬 "Primary nephrotic syndrome", "Nephrotic syndrome", "Glomerulonephritis", "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Crescentic glomerulonephritis", "CGN", "CrGN", "Endocapillary proliferative glomerulonephritis" | 576 576 trials | 44 / 151 / 117 / 86 💬 | 519 519 drugs [ 130 130 drugs ] | 108 108 genes | 219 pathways | 14333 14,333人年齢分布
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| 223 | 一次性膜性増殖性糸球体腎炎 [腎] 💬 "Primary membranoproliferative glomerulonephritis", "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Membranoproliferative glomerulonephritis", "Glomerulonephritis", "C3 glomerulonephritis", "C3 glomerulopathy", "IC-MPGN", "MPGN" | 243 243 trials | 8 / 62 / 49 / 17 💬 | 296 296 drugs [ 84 84 drugs ] | 46 46 genes | 169 pathways | 440 440人年齢分布
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| 224 | 紫斑病性腎炎 [腎] 💬 "Purpura nephritis", "Henoch-Schönlein purpura nephritis", "HSPN" | 19 19 trials | 1 / 3 / 1 / 5 💬 | 42 42 drugs [ 19 19 drugs ] | 16 16 genes | 64 pathways | 1237 1,237人年齢分布
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| 225 | 先天性腎性尿崩症 [腎] 💬 "Congenital nephrogenic diabetes insipidus", "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" | 19 19 trials | 3 / 5 / 0 / 2 💬 | 56 56 drugs [ 21 21 drugs ] | 33 33 genes | 67 pathways | 59 59人年齢分布
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| 226 | 間質性膀胱炎（ハンナ型） [腎] 💬 "Interstitial cystitis with Hunners ulcer", "Interstitial cystitis" | 177 177 trials | 15 / 67 / 28 / 9 💬 | 208 208 drugs [ 60 60 drugs ] | 87 87 genes | 148 pathways | 1161 1,161人年齢分布
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| 227 | オスラー病 [染] 💬 "Osler disease", "Hereditary hemorrhagic telangiectasia", "HHT", "Osler-Weber-Rendu disease" | 68 68 trials | 10 / 35 / 12 / 3 💬 | 93 93 drugs [ 22 22 drugs ] | 25 25 genes | 156 pathways | 1048 1,048人年齢分布
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| 228 | 閉塞性細気管支炎 [呼] 💬 "Bronchiolitis obliterans", "Obliterating bronchiolitis" | 112 112 trials | 10 / 37 / 38 / 9 💬 | 139 139 drugs [ 31 31 drugs ] | 33 33 genes | 161 pathways | 43 43人年齢分布
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| 229 | 肺胞蛋白症（自己免疫性又は先天性） [呼] 💬 "Autoimmune pulmonary alveolar proteinosis", "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Alveolar proteinosis" | 49 49 trials | 6 / 20 / 28 / 0 💬 | 36 36 drugs [ 6 6 drugs ] | 3 3 genes | 15 pathways | 328 328人年齢分布
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| 230 | 肺胞低換気症候群 [呼] 💬 "Alveolar hypoventilation syndrome", "AHS", "Hypoventilation syndrome" | 13 13 trials | 0 / 5 / 2 / 0 💬 | 25 25 drugs [ 7 7 drugs ] | 16 16 genes | 26 pathways | 191 191人年齢分布
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| 231 | α1－アンチトリプシン欠乏症 [呼] 💬 "Alpha-1-antitrypsin deficiency", "AATD" | 119 119 trials | 22 / 66 / 32 / 2 💬 | 126 126 drugs [ 15 15 drugs ] | 33 33 genes | 42 pathways | 16 16人年齢分布
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| 232 | カーニー複合 [内] 💬 "Carney complex", "CNC" | 2 2 trials | 0 / 1 / 0 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 1 1 gene | 30 pathways | 26 26人年齢分布
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| 233 | ウォルフラム症候群 [内] 💬 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 12 12 trials | 1 / 11 / 1 / 0 💬 | 19 19 drugs [ 7 7 drugs ] | 5 5 genes | 26 pathways | 16 16人年齢分布
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| 234 | ペルオキシソーム病（副腎白質ジストロフィーを除く。） [代] 💬 "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal syndrome", "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", "Refsum syndrome", "Primary hyperoxaluria type 1", "PH1", "Primary hyperoxaluria", "Acatalasemia", "Acatalasia", "Takahara disease", "Takahara syndrome" | 118 118 trials | 20 / 43 / 44 / 0 💬 | 85 85 drugs [ 18 18 drugs ] | 15 15 genes | 50 pathways | 3 3人年齢分布
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| 235 | 副甲状腺機能低下症 [内] 💬 "Hypoparathyroidism", "Accessory thyroid hypergasia disease" | 120 120 trials | 11 / 28 / 42 / 19 💬 | 167 167 drugs [ 31 31 drugs ] | 5 5 genes | 7 pathways | 352 352人年齢分布
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| 236 | 偽性副甲状腺機能低下症 [内] 💬 "Pseudohypoparathyroidism", "PHP" | 6 6 trials | 0 / 5 / 0 / 0 💬 | 5 5 drugs [ 3 3 drugs ] | 20 20 genes | 28 pathways | 133 133人年齢分布
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| 237 | 副腎皮質刺激ホルモン不応症 [内] 💬 "ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome", "Familial glucocorticoid deficiency", "FGD" | 0 - | 0 - | 0 - | 20 20人年齢分布
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| 238 | ビタミンＤ抵抗性くる病／骨軟化症 [内] 💬 "Vitamin D-resistant rickets", "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" | 34 34 trials | 6 / 7 / 8 / 4 💬 | 26 26 drugs [ 11 11 drugs ] | 3 3 genes | 16 pathways | 624 624人年齢分布
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| 239 | ビタミンＤ依存性くる病／骨軟化症 [内] 💬 "Vitamin D-dependent rickets", "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" | 0 - | 0 - | 0 - | 6 6人年齢分布
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| 240 | フェニルケトン尿症 [代] 💬 "Phenylketonuria", "PKU", "Hyperphenylalaninemia", "HPA", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" | 182 182 trials | 20 / 27 / 51 / 18 💬 | 144 144 drugs [ 12 12 drugs ] | 3 3 genes | 5 pathways | 314 314人年齢分布
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| 241 | 高チロシン血症1型 [代] 💬 "Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency" | 15 15 trials | 4 / 1 / 1 / 1 💬 | 7 7 drugs [ 1 1 drug ] | 1 1 gene | 3 pathways | 3 3人年齢分布
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| 242 | 高チロシン血症2型 [代] 💬 "Hypertyrosinemia type II", "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 243 | 高チロシン血症3型 [代] 💬 "Hypertyrosinemia type III", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 244 | メープルシロップ尿症 [代] 💬 "Maple syrup urine disease", "MSUD" | 5 5 trials | 0 / 1 / 1 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 0 - | 18 18人年齢分布
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| 245 | プロピオン酸血症 [代] 💬 "Propionic acidemia" | 17 17 trials | 7 / 9 / 1 / 0 💬 | 20 20 drugs [ 4 4 drugs ] | 1 1 gene | 3 pathways | 20 20人年齢分布
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| 246 | メチルマロン酸血症 [代] 💬 "Methylmalonic acidemia", "MMA" | 29 29 trials | 10 / 14 / 1 / 1 💬 | 31 31 drugs [ 8 8 drugs ] | 17 17 genes | 20 pathways | 32 32人年齢分布
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| 247 | イソ吉草酸血症 [代] 💬 "Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 7 7 drugs [ 1 1 drug ] | 0 - | 4 4人年齢分布
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| 248 | グルコーストランスポーター1欠損症 [代] 💬 "Glucose transporter type 1 deficiency", "GLUT1 deficiency" | 31 31 trials | 3 / 18 / 5 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 0 - | 25 25人年齢分布
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| 249 | グルタル酸血症1型 [代] 💬 "Glutaric acidemia type 1" | 0 - | 0 - | 0 - | 9 9人年齢分布
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| 250 | グルタル酸血症2型 [代] 💬 "Glutaric acidemia type 2", "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" | 0 - | 0 - | 0 - | 14 14人年齢分布
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| 251 | 尿素サイクル異常症 [代] 💬 "Urea cycle disorder", "Primary hyperammonemia", "Carbamoyl phosphate synthetase I deficiency", "CPSI deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "N-acetylglutamate synthase deficiency", "NAGS deficiency" | 70 70 trials | 28 / 36 / 8 / 3 💬 | 76 76 drugs [ 18 18 drugs ] | 2 2 genes | 4 pathways | 117 117人年齢分布
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| 252 | リジン尿性蛋白不耐症 [代] 💬 "Lysinuric protein intolerance" | 0 - | 0 - | 0 - | 26 26人年齢分布
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| 253 | 先天性葉酸吸収不全 [代] 💬 "Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption" | 0 - | 0 - | 0 - | - |
| 254 | ポルフィリン症 [代] 💬 "Porphyria", "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" | 85 85 trials | 13 / 22 / 40 / 1 💬 | 67 67 drugs [ 18 18 drugs ] | 18 18 genes | 28 pathways | 50 50人年齢分布
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| 255 | 複合カルボキシラーゼ欠損症 [代] 💬 "Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 7 7 drugs [ 0 - ] | 0 - | 7 7人年齢分布
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| 256 | 筋型糖原病 [代] 💬 "Muscle glycogenosis", "Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Pompe syndrome", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Cori syndrome", "Forbes disease", "Forbes syndrome", "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", "Tarui syndrome", "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" | 204 204 trials | 30 / 56 / 63 / 29 💬 | 153 153 drugs [ 29 29 drugs ] | 19 19 genes | 59 pathways | 30 30人年齢分布
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| 257 | 肝型糖原病 [代] 💬 "Hepatic glycogenosis", "Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Cori syndrome", "Forbes disease", "Forbes syndrome", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hers syndrome", "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" | 17 17 trials | 4 / 7 / 0 / 0 💬 | 32 32 drugs [ 8 8 drugs ] | 2 2 genes | 7 pathways | 120 120人年齢分布
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| 258 | ガラクトース－１－リン酸ウリジルトランスフェラーゼ欠損症 [代] 💬 "Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 259 | レシチンコレステロールアシルトランスフェラーゼ欠損症 [代] 💬 "Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Fish-eye disease", "FED" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 0 - | 4 4人年齢分布
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| 260 | シトステロール血症 [代] 💬 "Sitosterolemia" | 13 13 trials | 0 / 1 / 4 / 0 💬 | 12 12 drugs [ 3 3 drugs ] | 1 1 gene | 1 pathway | 21 21人年齢分布
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| 261 | タンジール病 [代] 💬 "Tangier disease" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 0 - | 9 9人年齢分布
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| 262 | 原発性高カイロミクロン血症 [代] 💬 "Primary hyperchylomicronemia" | 0 - | 0 - | 0 - | 65 65人年齢分布
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| 263 | 脳腱黄色腫症 [神] 💬 "Cerebrotendinous xanthomatosis", "CTX", "27-hydroxylase deficiency", "CYP27 deficiency" | 10 10 trials | 1 / 1 / 3 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 2 2 genes | 3 pathways | 58 58人年齢分布
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| 264 | 無βリポタンパク血症 [代] 💬 "Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 0 - ] | 0 - | 5 5人年齢分布
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| 265 | 脂肪萎縮症 [内] 💬 "Lipodystrophy" | 133 133 trials | 7 / 33 / 25 / 27 💬 | 176 176 drugs [ 58 58 drugs ] | 30 30 genes | 102 pathways | 45 45人年齢分布
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| 266 | 家族性地中海熱 [免] 💬 "Familial mediterranean fever" | 39 39 trials | 1 / 10 / 2 / 3 💬 | 44 44 drugs [ 6 6 drugs ] | 14 14 genes | 59 pathways | 857 857人年齢分布
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| 267 | 高IgＤ症候群 [免] 💬 "Hyper-IgD syndrome", "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" | 12 12 trials | 0 / 2 / 0 / 0 💬 | 6 6 drugs [ 1 1 drug ] | 1 1 gene | 43 pathways | 5 5人年齢分布
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| 268 | 中條・西村症候群 [免] 💬 "Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "Autoinflammation lipodystrophy and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 1 1 drug ] | 2 2 genes | 37 pathways | 10 10人年齢分布
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| 269 | 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 [免] 💬 "Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" | 35 35 trials | 1 / 17 / 11 / 2 💬 | 44 44 drugs [ 17 17 drugs ] | 12 12 genes | 91 pathways | 13 13人年齢分布
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| 270 | 慢性再発性多発性骨髄炎 [骨] 💬 "Chronic recurrent multifocal osteomyelitis" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 11 11 drugs [ 8 8 drugs ] | 6 6 genes | 71 pathways | 140 140人年齢分布
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| 271 | 強直性脊椎炎 [骨] 💬 "Ankylosing spondylitis", "Spondylarthritis ankylopoietica" | 631 631 trials | 15 / 106 / 213 / 78 💬 | 405 405 drugs [ 73 73 drugs ] | 38 38 genes | 144 pathways | 5730 5,730人年齢分布
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| 272 | 進行性骨化性線維異形成症 [骨] 💬 "Fibrodysplasia ossificans progressiva", "FOP" | 55 55 trials | 2 / 32 / 22 / 0 💬 | 51 51 drugs [ 9 9 drugs ] | 28 28 genes | 106 pathways | 20 20人年齢分布
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| 273 | 肋骨異常を伴う先天性側弯症 [骨] 💬 "Congenital scoliosis with rib anomaly", "Congenital scoliosis" | 1 1 trial | 0 / 0 / 0 / 1 💬 | 0 - | 0 - | 22 22人年齢分布
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| 274 | 骨形成不全症 [骨] 💬 "Osteogenesis Imperfecta" | 108 108 trials | 17 / 29 / 40 / 10 💬 | 113 113 drugs [ 18 18 drugs ] | 9 9 genes | 51 pathways | 173 173人年齢分布
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| 275 | タナトフォリック骨異形成症 [骨] 💬 "Thanatophoric dysplasia" | 0 - | 0 - | 0 - | 5 5人年齢分布
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| 276 | 軟骨無形成症 [骨] 💬 "Achondroplasia" | 69 69 trials | 4 / 50 / 15 / 1 💬 | 51 51 drugs [ 6 6 drugs ] | 5 5 genes | 31 pathways | 113 113人年齢分布
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| 277 | リンパ管腫症／ゴーハム病 [呼] 💬 "Lymphangiomatosis", "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" | 6 6 trials | 2 / 2 / 1 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 1 1 gene | 52 pathways | 93 93人年齢分布
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| 278 | 巨大リンパ管奇形（頚部顔面病変） [呼] 💬 "Huge lymphatic malformation with cervicofacial lesion", "Huge lymphatic malformation", "Lymphatic malformation", "Lymphangioma" | 47 47 trials | 3 / 20 / 7 / 2 💬 | 48 48 drugs [ 15 15 drugs ] | 8 8 genes | 142 pathways | 41 41人年齢分布
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| 279 | 巨大静脈奇形（頚部口腔咽頭びまん性病変） [循] 💬 "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation", "Gigantic venous malformation" | 28 28 trials | 1 / 8 / 1 / 3 💬 | 36 36 drugs [ 15 15 drugs ] | 6 6 genes | 138 pathways | 79 79人年齢分布
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| 280 | 巨大動静脈奇形（頚部顔面又は四肢病変） [循] 💬 "Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation", "Gigantic arteriovenous malformation" | 36 36 trials | 5 / 6 / 0 / 2 💬 | 41 41 drugs [ 17 17 drugs ] | 12 12 genes | 169 pathways | 126 126人年齢分布
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| 281 | クリッペル・トレノネー・ウェーバー症候群 [循] 💬 "Klippel-Trenaunay-Weber syndrome", "Klippel-Trénaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 4 4 drugs [ 2 2 drugs ] | 1 1 gene | 52 pathways | 300 300人年齢分布
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| 282 | 先天性赤血球形成異常性貧血 [血] 💬 "Congenital dyserythropoietic anemia", "CDA" | 4 4 trials | 1 / 2 / 0 / 1 💬 | 7 7 drugs [ 3 3 drugs ] | 4 4 genes | 10 pathways | 14 14人年齢分布
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| 283 | 後天性赤芽球癆 [血] 💬 "Acquired pure red cell aplasia", "Pure red cell aplasia" | 25 25 trials | 2 / 11 / 3 / 3 💬 | 41 41 drugs [ 22 22 drugs ] | 17 17 genes | 99 pathways | 985 985人年齢分布
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| 284 | ダイアモンド・ブラックファン貧血 [血] 💬 "Diamond-Blackfan anemia" | 41 41 trials | 7 / 12 / 1 / 1 💬 | 123 123 drugs [ 34 34 drugs ] | 24 24 genes | 125 pathways | 28 28人年齢分布
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| 285 | ファンコニ貧血 [血] 💬 "Fanconi anemia" | 72 72 trials | 18 / 31 / 3 / 0 💬 | 131 131 drugs [ 32 32 drugs ] | 34 34 genes | 172 pathways | 12 12人年齢分布
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| 286 | 遺伝性鉄芽球性貧血 [血] 💬 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" | 7 7 trials | 0 / 0 / 0 / 0 💬 | 27 27 drugs [ 7 7 drugs ] | 8 8 genes | 40 pathways | 13 13人年齢分布
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| 287 | エプスタイン症候群 [染] 💬 "Epstein syndrome" | 0 - | 0 - | 0 - | 18 18人年齢分布
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| 288 | 自己免疫性後天性凝固因子欠乏症 [血] 💬 "Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Acquired factor XIII deficiency", "Autoimmune acquired factor XIII (F13) deficiency", "Acquired factor VIII deficiency", "Autoimmune acquired factor VIII (F8) deficiency", "Acquired hemophilia A", "VWF deficiency", "Acquired von Willebrand syndrome", "Acquired von Willebrand Disease", "AVWS", "AVWD", "Acquired factor V deficiency", "Autoimmune acquired factor V (F5) deficiency", "Acquired factor X deficiency" | 35 35 trials | 0 / 13 / 6 / 6 💬 | 45 45 drugs [ 11 11 drugs ] | 8 8 genes | 19 pathways | 496 496人年齢分布
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| 289 | クロンカイト・カナダ症候群 [消] 💬 "Cronkhite-Canada syndrome" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 224 224人年齢分布
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| 290 | 非特異性多発性小腸潰瘍症 [消] 💬 "Chronic nonspecific multiple ulcers of the small intestine", "Nonspecific multiple ulcers in the small intestine" | 1 1 trial | 1 / 1 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 1 1 gene | 1 pathway | 88 88人年齢分布
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| 291 | ヒルシュスプルング病（全結腸型又は小腸型） [消] 💬 "Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" | 18 18 trials | 0 / 1 / 2 / 1 💬 | 35 35 drugs [ 11 11 drugs ] | 0 - | 26 26人年齢分布
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| 292 | 総排泄腔外反症 [消] 💬 "Cloacal exstrophy", "Vesicointestinal fissure" | 0 - | 0 - | 0 - | 21 21人年齢分布
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| 293 | 総排泄腔遺残 [消] 💬 "Persistent cloaca" | 0 - | 0 - | 0 - | 54 54人年齢分布
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| 294 | 先天性横隔膜ヘルニア [呼] 💬 "Congenital diaphragmatic hernia" | 21 21 trials | 1 / 3 / 7 / 3 💬 | 42 42 drugs [ 7 7 drugs ] | 5 5 genes | 13 pathways | 15 15人年齢分布
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| 295 | 乳幼児肝巨大血管腫 [消] 💬 "Infant huge hepatic hemangioma", "Infant giant liver hemangioma", "Giant hepatic haemangiomas", "Critical infantile hepatic haemangioma", "Infantile hepatic hemangioma" | 0 - | 0 - | 0 - | - |
| 296 | 胆道閉鎖症 [消] 💬 "Biliary atresia" | 97 97 trials | 6 / 23 / 13 / 8 💬 | 89 89 drugs [ 40 40 drugs ] | 51 51 genes | 69 pathways | 578 578人年齢分布
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| 297 | アラジール症候群 [消] 💬 "Alagille syndrome" | 48 48 trials | 0 / 19 / 15 / 2 💬 | 22 22 drugs [ 6 6 drugs ] | 3 3 genes | 5 pathways | 51 51人年齢分布
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| 298 | 遺伝性膵炎 [消] 💬 "Hereditary pancreatitis", "Chronic pancreatitis" | 126 126 trials | 20 / 32 / 16 / 12 💬 | 210 210 drugs [ 59 59 drugs ] | 65 65 genes | 161 pathways | 41 41人年齢分布
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| 299 | 嚢胞性線維症 [消] 💬 "Cystic fibrosis", "CF" | 1,885 1,885 trials | 218 / 487 / 627 / 137 💬 | 1,782 1,782 drugs [ 252 252 drugs ] | 110 110 genes | 190 pathways | 17 17人年齢分布
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| 300 | IgＧ４関連疾患 [免] 💬 "IgG4-related disease", "Immunoglobulin G4-related disease", "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" | 81 81 trials | 3 / 19 / 21 / 8 💬 | 90 90 drugs [ 31 31 drugs ] | 23 23 genes | 152 pathways | 4495 4,495人年齢分布
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| 301 | 黄斑ジストロフィー [視] 💬 "Macular dystrophy", "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" | 69 69 trials | 22 / 34 / 14 / 0 💬 | 66 66 drugs [ 15 15 drugs ] | 10 10 genes | 80 pathways | 262 262人年齢分布
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| 302 | レーベル遺伝性視神経症 [視] 💬 "Leber hereditary optic neuropathy", "LHON", "Leber hereditary optic atrophy", "Leber disease" | 47 47 trials | 6 / 11 / 19 / 10 💬 | 36 36 drugs [ 8 8 drugs ] | 5 5 genes | 33 pathways | 134 134人年齢分布
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| 303 | アッシャー症候群 [聴] 💬 [視] 💬 "Usher syndrome" | 16 16 trials | 1 / 2 / 0 / 0 💬 | 27 27 drugs [ 6 6 drugs ] | 1 1 gene | 1 pathway | 30 30人年齢分布
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| 304 | 若年発症型両側性感音難聴 [聴] 💬 "Juvenile-onset bilateral sensorineural hearing loss", "Bilateral sudden sensorineural hearing loss" | 0 - | 0 - | 0 - | 70 70人年齢分布
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| 305 | 遅発性内リンパ水腫 [聴] 💬 "Delayed endolymphatic hydrops" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 2 2 drugs [ 2 2 drugs ] | 0 - | 28 28人年齢分布
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| 306 | 好酸球性副鼻腔炎 [免] 💬 [聴] 💬 "Eosinophilic sinusitis" | 2 2 trials | 0 / 0 / 0 / 1 💬 | 4 4 drugs [ 4 4 drugs ] | 3 3 genes | 19 pathways | 34535 34,535人年齢分布
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| 307 | カナバン病 [神] 💬 "Canavan disease" | 6 6 trials | 3 / 3 / 0 / 0 💬 | 10 10 drugs [ 3 3 drugs ] | 2 2 genes | 2 pathways | - |
| 308 | 進行性白質脳症 [神] 💬 "Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Vanishing white matter disease", "Leukoencephalopathy, progressive, with ovarian failure" | 4 4 trials | 1 / 1 / 0 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 5 5 genes | 2 pathways | 32 32人年齢分布
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| 309 | 進行性ミオクローヌスてんかん [神] 💬 "Progressive myoclonus epilepsy", "Progressive myoclonic epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" | 16 16 trials | 2 / 3 / 7 / 0 💬 | 26 26 drugs [ 5 5 drugs ] | 6 6 genes | 14 pathways | 52 52人年齢分布
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| 310 | 先天異常症候群 [染] 💬 "Congenital anomalies syndrome", "Partial trisomy 1q syndrome", "Chromosome 1q21.1 duplication syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Chromosome 9q34.3 deletion syndrome", "Chromosome 9q deletion syndrome", "9q subtelomeric deletion syndrome", "9q- syndrome", "9q34.3 deletion/microdeletion syndrome", "Kleefstra syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" | 12 12 trials | 2 / 6 / 1 / 0 💬 | 21 21 drugs [ 10 10 drugs ] | 2 2 genes | 3 pathways | 41 41人年齢分布
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| 311 | 先天性三尖弁狭窄症 [循] 💬 "Congenital tricuspid stenosis", "Congenital tricuspid valve stenosis" | 0 - | 0 - | 0 - | 7 7人年齢分布
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| 312 | 先天性僧帽弁狭窄症 [循] 💬 "Congenital mitral stenosis", "Congenital mitral valve stenosis" | 0 - | 0 - | 0 - | 24 24人年齢分布
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| 313 | 先天性肺静脈狭窄症 [循] 💬 "Congenital pulmonary vein stenosis", "Congenital pulmonary venous obstruction", "Congenital pulmonary venous stenosis" | 0 - | 0 - | 0 - | 3 3人年齢分布
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| 314 | 左肺動脈右肺動脈起始症 [循] 💬 "Vascular sling" | 0 - | 0 - | 0 - | 2 2人年齢分布
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| 315 | ネイルパテラ症候群（爪膝蓋骨症候群）/ＬＭＸ１Ｂ関連腎症 [腎] 💬 "Nail-Patella syndrome", "LMX1B-associated nephropathy" | 0 - | 0 - | 0 - | 10 10人年齢分布
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| 316 | カルニチン回路異常症 [代] 💬 "Carnitine cycle disorder", "Disorders of carnitine transport and the carnitine cycle", "Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "LC-FAOD", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Primary Carnitine deficiency", "OCTN2 deficiency" | 4 4 trials | 0 / 1 / 1 / 0 💬 | 12 12 drugs [ 2 2 drugs ] | 2 2 genes | 11 pathways | 22 22人年齢分布
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| 317 | 三頭酵素欠損症 [代] 💬 "Trifunctional protein deficiency", "TFP deficiency", "LC-FAOD" | 4 4 trials | 0 / 0 / 0 / 0 💬 | 8 8 drugs [ 3 3 drugs ] | 1 1 gene | 1 pathway | 3 3人年齢分布
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| 318 | シトリン欠損症 [代] 💬 "Citrin deficiency", "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" | 5 5 trials | 1 / 1 / 0 / 0 💬 | 3 3 drugs [ 3 3 drugs ] | 0 - | 81 81人年齢分布
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| 319 | セピアプテリン還元酵素（SR）欠損症 [代] 💬 "Sepiapterin reductase deficiency" | 0 - | 0 - | 0 - | 2 2人年齢分布
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| 320 | 先天性グリコシルホスファチジルイノシトール（GPI）欠損症 [神] 💬 "Inherited glycosylphosphatidylinositol deficiency", "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency", "Autosomal recessive mental retardation-42", "MRT42" | 3 3 trials | 0 / 0 / 0 / 0 💬 | 1 1 drug [ 1 1 drug ] | 0 - | 2 2人年齢分布
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| 321 | 非ケトーシス型高グリシン血症 [代] 💬 "Non-ketotic hyperglycinemia", "Nonketotic hyperglycinemia", "NKH" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 0 - ] | 0 - | 3 3人年齢分布
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| 322 | β－ケトチオラーゼ欠損症 [代] 💬 "Beta-ketothiolase deficiency" | 1 1 trial | 0 / 0 / 0 / 0 💬 | 6 6 drugs [ 0 - ] | 0 - | - |
| 323 | 芳香族L-アミノ酸脱炭酸酵素欠損症 [代] 💬 "Aromatic L-amino acid decarboxylase deficiency" | 1 1 trial | 0 / 1 / 1 / 0 💬 | 1 1 drug [ 0 - ] | 0 - | 4 4人年齢分布
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| 324 | メチルグルタコン酸尿症 [代] 💬 "Methylglutaconic aciduria", "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" | 6 6 trials | 0 / 2 / 1 / 1 💬 | 10 10 drugs [ 3 3 drugs ] | 1 1 gene | 10 pathways | 1 1人年齢分布
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| 325 | 遺伝性自己炎症疾患 [免] 💬 "Hereditary autoinflammatory syndrome", "Inherited autoinflammatory disease", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" | 12 12 trials | 1 / 7 / 0 / 0 💬 | 18 18 drugs [ 7 7 drugs ] | 2 2 genes | 37 pathways | 23 23人年齢分布
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| 326 | 大理石骨病 [代] 💬 "Osteopetrosis", "Neonatal/infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" | 18 18 trials | 1 / 5 / 3 / 0 💬 | 47 47 drugs [ 12 12 drugs ] | 9 9 genes | 58 pathways | 22 22人年齢分布
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| 327 | 特発性血栓症（遺伝性血栓性素因によるものに限る。） [血] 💬 "Idiopathic thrombosis", "Inherited thrombophilia" | 3 3 trials | 0 / 0 / 2 / 0 💬 | 13 13 drugs [ 3 3 drugs ] | 1 1 gene | 1 pathway | 311 311人年齢分布
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| 328 | 前眼部形成異常 [視] 💬 "Anterior segment dysgenesis", "ASD" | 0 - | 0 - | 0 - | 21 21人年齢分布
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| 329 | 無虹彩症 [視] 💬 "Aniridia" | 5 5 trials | 0 / 2 / 0 / 0 💬 | 6 6 drugs [ 2 2 drugs ] | 0 - | 157 157人年齢分布
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| 330 | 先天性気管狭窄症/先天性声門下狭窄症 [呼] 💬 [聴] 💬 "Congenital tracheal stenosis", "Congenital subglottic stenosis", "Congenital tracheal stenosis", "Congenital subglottic stenosis" | 2 2 trials | 0 / 1 / 0 / 0 💬 | 3 3 drugs [ 2 2 drugs ] | 0 - | 68 68人年齢分布
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| 331 | 特発性多中心性キャッスルマン病 [血] 💬 "Idiopathic multicentric castleman disease", "iMCD", "Castleman disease" | 44 44 trials | 7 / 29 / 0 / 2 💬 | 58 58 drugs [ 32 32 drugs ] | 43 43 genes | 168 pathways | 2059 2,059人年齢分布
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| 332 | 膠様滴状角膜ジストロフィー [視] 💬 "Gelatinous drop-like corneal dystrophy" | 0 - | 0 - | 0 - | 9 9人年齢分布
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| 333 | ハッチンソン・ギルフォード症候群 [染] 💬 "Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS", "Progeria syndrome" | 9 9 trials | 1 / 6 / 0 / 0 💬 | 8 8 drugs [ 4 4 drugs ] | 4 4 genes | 5 pathways | - |
| 334 | 脳クレアチン欠乏症候群 [神] 💬 "Cerebral creatine deficiency syndrome", "CCDS" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 335 | ネフロン癆 [腎] 💬 "Nephronophthisis", "NPHP", "NPH" | 2 2 trials | 0 / 0 / 0 / 0 💬 | 3 3 drugs [ 0 - ] | 0 - | 27 27人年齢分布
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| 336 | 家族性低βリポタンパク血症1（ホモ接合体） [代] 💬 "Familial hypobetalipoproteinemia 1", "FHBL1" | 0 - | 0 - | 0 - | 1 1人年齢分布
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| 337 | ホモシスチン尿症 [代] 💬 "Homocystinuria", "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" | 23 23 trials | 6 / 9 / 2 / 0 💬 | 31 31 drugs [ 11 11 drugs ] | 3 3 genes | 26 pathways | 33 33人年齢分布
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| 338 | 進行性家族性肝内胆汁うっ滞症 [消] 💬 "Progressive familial intrahepatic cholestasis", "PFIC" | 65 65 trials | 0 / 4 / 41 / 0 💬 | 27 27 drugs [ 2 2 drugs ] | 2 2 genes | 3 pathways | 7 7人年齢分布
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| 339 | MECP2重複症候群 [染] 💬 "MECP2 duplication syndrome" | 2 2 trials | 1 / 1 / 0 / 0 💬 | 3 3 drugs [ 0 - ] | 0 - | 8 8人年齢分布
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| 340 | 線毛機能不全症候群（カルタゲナー症候群を含む。） [呼] 💬 "Primary ciliary dyskinesia", "PCD", "Kartagener syndrome", "KS" | 27 27 trials | 3 / 7 / 4 / 0 💬 | 47 47 drugs [ 12 12 drugs ] | 7 7 genes | 26 pathways | 74 74人年齢分布
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| 341 | TRPV4異常症 [骨] 💬 "TRPV4 deficiency", "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" | 0 - | 0 - | 0 - | 4 4人年齢分布
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| 342 | LMNB1関連大脳白質脳症 [神] 💬 "LMNB1-related cerebral leukoencephalopathy", "Autosomal dominant adult-onset demyelinating leukodystrophy", "LMNB1-related autosomal dominant leukodystrophy", "ADLD" | 0 - | 0 - | 0 - | - |
| 343 | PURA関連神経発達異常症 [神] 💬 "PURA-related neurodevelopmental disorders", "PURA-NDDs" | 0 - | 0 - | 0 - | - |
| 344 | 極長鎖アシル-CoA 脱水素酵素欠損症 [代] 💬 "Very long-chain acyl-CoA dehydrogenase deficiency", "Very long-chain acyl-coenzyme A dehydrogenase deficiency", "Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency", "VLCAD deficiency", "VLCADD", "LC-FAOD" | 15 15 trials | 0 / 4 / 6 / 0 💬 | 25 25 drugs [ 4 4 drugs ] | 2 2 genes | 11 pathways | - |
| 345 | 乳児発症STING関連血管炎 [免] 💬 [染] 💬 "Stimulator of interferon genes(STING)-associated vasculopathy with onset in infancy", "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "STING-associated vasculopathy with onset in infancy", "SAVI" | 5 5 trials | 0 / 1 / 1 / 0 💬 | 4 4 drugs [ 1 1 drug ] | 2 2 genes | 37 pathways | - |
| 346 | 原発性肝外門脈閉塞症 [消] 💬 "Primary extrahepatic portal vein obstruction", "Extrahepatic portal vein obstruction", "EHPVO" | 0 - | 0 - | 0 - | - |
| 347 | 出血性線溶異常症 [血] 💬 "Hemorrhagic disorders of fibrinolysis", "Hemorrhagic fibrinolytic disorder" | 0 - | 0 - | 0 - | - |
| 348 | ロウ症候群 [神] 💬 "Lowe syndrome", "Oculocerebrorenal syndrome of Lowe", "OCRL" | 2 2 trials | 0 / 1 / 0 / 0 💬 | 2 2 drugs [ 1 1 drug ] | 1 1 gene | 4 pathways | - |