ポルティモネンセsc

--> --> --> --> --> --> --> DDrare Disease Drug --> Drug Target Gene/Pathway ガイド ダウンロード --> 問合せ先 EN Disease 指定難病338疾患の臨床試験情報 --> 指定難病 疾患数 : 338 - 臨床試験総数 : 34,520 / 薬物総数 : 19,957 - ( DrugBank : 2,195 ) / 標的遺伝子総数 : 613 - 標的パスウェイ総数 : 297 Search    --> --> "|" (Download) --> 告示番号 疾患名 Search query - Original list --> 疾患名 --> 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 - (1) 概要、診断基準等, (2) 医療費受給者証所持者数 (2019) --> 国内患者数 - (1) 概要、診断基準等, (2) 医療費受給者証所持者数 (2019) --> 国内患者数 - (1) 概要、診断基準等, (2) 医療費受給者証所持者数 (2020年度) --> 国内患者数 - (1) 概要、診断基準等, (2) 医療費受給者証所持者数 (2021年度) --> 国内患者数医療費受給者証所持者数 (R4年度) 関連情報 --> 1球脊髄性筋萎縮症 [神] &＃x1f4ac;"Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome" 1818 trials   | 1 / 10 / 2 / 1 &＃x1f4ac;  1515 drugs  [ 88 drugs ]  1010 genes  |  17 pathways 16971,697人年齢分布&＃x1f4ac; 2筋萎縮性側索硬化症 [神] &＃x1f4ac;"Amyotrophic lateral sclerosis", "ALS" 645645 trials   | 227 / 290 / 231 / 26 &＃x1f4ac;  589589 drugs  [ 163163 drugs ]  150150 genes  |  225 pathways 97659,765人年齢分布&＃x1f4ac; 3脊髄性筋萎縮症 [神] &＃x1f4ac;"Spinal muscular atrophy", "Myelopathic muscular atrophy", "Spinal muscular atrophy type I", "SMA I", "Werdnig-Hoffman disease", "Spinal muscular atrophy type II", "SMA II", "Dubowitz disease", "Spinal muscular atrophy type III", "SMA III", "Kugelberg-Welander disease", "Spinal muscular atrophy type IV", "SMA IV" 237237 trials   | 106 / 117 / 116 / 28 &＃x1f4ac;  123123 drugs  [ 2929 drugs ]  5151 genes  |  75 pathways 955955人年齢分布&＃x1f4ac; 4原発性側索硬化症 [神] &＃x1f4ac;"Primary lateral sclerosis", "PLS" 55 trials   | 2 / 2 / 0 / 1 &＃x1f4ac;  1313 drugs  [ 66 drugs ]  1313 genes  |  25 pathways 146146人年齢分布&＃x1f4ac; 5進行性核上性麻痺 [神] &＃x1f4ac;"Progressive supranuclear palsy", "PSP" 8989 trials   | 45 / 42 / 9 / 6 &＃x1f4ac;  107107 drugs  [ 4040 drugs ]  6565 genes  |  108 pathways 1283012,830人年齢分布&＃x1f4ac; 6パーキンソン病 [神] &＃x1f4ac;"Parkinson disease", "Disease Parkinson's" 2,3072,307 trials   | 810 / 703 / 607 / 290 &＃x1f4ac;  2,0072,007 drugs  [ 349349 drugs ]  188188 genes  |  199 pathways 143267143,267人年齢分布&＃x1f4ac; 7大脳皮質基底核変性症 [神] &＃x1f4ac;"Corticobasal degeneration", "Corticobasal syndrome", "CBD" 1616 trials   | 5 / 3 / 1 / 0 &＃x1f4ac;  2828 drugs  [ 1313 drugs ]  99 genes  |  38 pathways 44284,428人年齢分布&＃x1f4ac; 8ハンチントン病 [神] &＃x1f4ac;"Huntington disease", "Huntington chorea" 242242 trials   | 111 / 134 / 50 / 13 &＃x1f4ac;  205205 drugs  [ 6262 drugs ]  8585 genes  |  159 pathways 892892人年齢分布&＃x1f4ac; 9神経有棘赤血球症 [神] &＃x1f4ac;"Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome" 0-  0-  0- 3636人年齢分布&＃x1f4ac; 10シャルコー・マリー・トゥース病 [神] &＃x1f4ac;"Charcot-Marie-Tooth disease", "CMT", "Charcot-Marie-Tooth disease type 1", "CMT1", "Demyelinating CMT", "Charcot-Marie-Tooth disease type 2", "CMT2", "Axonal CMT", "Intermediate Charcot-Marie-Tooth disease", "CMT-I", "Intermediate CMT" 4141 trials   | 25 / 17 / 24 / 4 &＃x1f4ac;  4646 drugs  [ 99 drugs ]  1111 genes  |  15 pathways 845845人年齢分布&＃x1f4ac; 11重症筋無力症 [神] &＃x1f4ac;"Myasthenia gravis", "MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG" 332332 trials   | 110 / 106 / 204 / 29 &＃x1f4ac;  234234 drugs  [ 8181 drugs ]  4545 genes  |  127 pathways 2638726,387人年齢分布&＃x1f4ac; 12先天性筋無力症候群 [神] &＃x1f4ac;"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" 55 trials   | 1 / 0 / 0 / 0 &＃x1f4ac;  77 drugs  [ 33 drugs ]  55 genes  |  13 pathways 1212人年齢分布&＃x1f4ac; 13多発性硬化症／視神経脊髄炎 [神] &＃x1f4ac;"Multiple sclerosis/Neuromyelitis optica", "Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis" 3,3403,340 trials   | 996 / 796 / 1256 / 514 &＃x1f4ac;  2,1632,163 drugs  [ 383383 drugs ]  241241 genes  |  238 pathways 2310523,105人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy" 175175 trials   | 46 / 94 / 76 / 14 &＃x1f4ac;  161161 drugs  [ 4141 drugs ]  1313 genes  |  24 pathways 52915,291人年齢分布&＃x1f4ac; 15封入体筋炎 [神] &＃x1f4ac;"Inclusion body myositis" 4242 trials   | 31 / 19 / 25 / 5 &＃x1f4ac;  3333 drugs  [ 1111 drugs ]  1212 genes  |  123 pathways 847847人年齢分布&＃x1f4ac; 16クロウ・深瀬症候群 [神] &＃x1f4ac;"Crow-Fukase syndrome", "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome" 1313 trials   | 2 / 7 / 2 / 1 &＃x1f4ac;  1414 drugs  [ 77 drugs ]  44 genes  |  75 pathways 252252人年齢分布&＃x1f4ac; 17多系統萎縮症 [神] &＃x1f4ac;"Multiple system atrophy", "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome" 119119 trials   | 43 / 40 / 40 / 7 &＃x1f4ac;  138138 drugs  [ 4444 drugs ]  5959 genes  |  111 pathways 1080810,808人年齢分布&＃x1f4ac; 18脊髄小脳変性症（多系統萎縮症を除く。） [神] &＃x1f4ac;"Spinocerebellar degeneration", "SCD", "Spinocerebellar ataxia type I", "SCA1", "Spinocerebellar ataxia type II", "SCA2", "Spinocerebellar ataxia type III", "SCA3", "Machado-Joseph disease", "Spinocerebellar ataxia type VI", "SCA6", "Spinocerebellar ataxia type VII", "SCA7", "Spinocerebellar ataxia type X", "SCA10", "Spinocerebellar ataxia type XII", "SCA12", "Dentatorubural pallidoluysian atrophy", "Dentatorubropallidoluysial atrophy", "DRPLA", "Naito-Koyanagi disease", "Friedreich ataxia", "FRDA", "Ataxia with vitamin E deficiency", "AVED", "Early-onset ataxia with ocular motor ataxia and hypoalbuminemia", "EOAH" 7676 trials   | 20 / 46 / 19 / 5 &＃x1f4ac;  9898 drugs  [ 3131 drugs ]  4444 genes  |  65 pathways 2647626,476人年齢分布&＃x1f4ac; 19ライソゾーム病 [代] &＃x1f4ac;"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", "Metachromatic leukodystrophy", "MLD", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Hurler-Scheie syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" 899899 trials   | 549 / 383 / 342 / 126 &＃x1f4ac;  684684 drugs  [ 9999 drugs ]  5151 genes  |  182 pathways 16721,672人年齢分布&＃x1f4ac; 20副腎白質ジストロフィー [代] &＃x1f4ac;"Adrenoleukodystrophy", "ALD", "Childhood cerebral adrenoleukodystrophy", "Childhood cerebral ALD", "CCALD", "Adolescent cerebral adrenomyeloneuropathy", "AdolCALD", "Adrenomyeloneuropathy", "AMN", "Adult cerebral adrenoleukodystrophy", "ACALD", "Cerebellum-brain stem type adrenoleukodystrophy", "Addison-only adrenoleukodystrophy", "AO ALD", "Adrenoleukodystrophy (Female onset)" 6161 trials   | 42 / 36 / 28 / 7 &＃x1f4ac;  9090 drugs  [ 3131 drugs ]  2323 genes  |  126 pathways 253253人年齢分布&＃x1f4ac; 21ミトコンドリア病 [代] &＃x1f4ac;"Mitochondrial disease" 3939 trials   | 7 / 21 / 15 / 2 &＃x1f4ac;  4242 drugs  [ 3232 drugs ]  4747 genes  |  67 pathways 16301,630人年齢分布&＃x1f4ac; 22もやもや病 [神] &＃x1f4ac;"Moyamoya disease", "Occlusive disease in circle of Willis" 1717 trials   | 3 / 2 / 1 / 3 &＃x1f4ac;  2222 drugs  [ 1717 drugs ]  3333 genes  |  45 pathways 1354413,544人年齢分布&＃x1f4ac; 23プリオン病 [神] &＃x1f4ac;"Prion disease", "Creutzfeldt-Jakob disease", "CJD", "Sporadic Creutzfeldt-Jakob disease", "Sporadic CJD", "sCJD", "Gerstmann-Straussler-Scheinker syndrome", "GSS", "Fatal familial insomnia", "FFI", "Environmentally acquired CJD", "Kuru disease", "Iatrogenic CJD", "iCJD", "Variant CCJD", "vCJD" 44 trials   | 0 / 1 / 0 / 0 &＃x1f4ac;  55 drugs  [ 22 drugs ]  0- 464464人年齢分布&＃x1f4ac; 24亜急性硬化性全脳炎 [神] &＃x1f4ac;"Subacute sclerosing panencephalitis", "SSPE" 0-  0-  0- 5858人年齢分布&＃x1f4ac; 25進行性多巣性白質脳症 [神] &＃x1f4ac;"Progressive multifocal leukoencephalopathy", "PML", "Leukoencephalopathy, progressive multifocal" 2626 trials   | 3 / 8 / 0 / 2 &＃x1f4ac;  3535 drugs  [ 2222 drugs ]  88 genes  |  37 pathways 7777人年齢分布&＃x1f4ac; 26HTLV-1関連脊髄症 [神] &＃x1f4ac;"HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy", "HAM" 2929 trials   | 10 / 15 / 10 / 0 &＃x1f4ac;  4747 drugs  [ 2929 drugs ]  3434 genes  |  119 pathways 10161,016人年齢分布&＃x1f4ac; 27特発性基底核石灰化症 [神] &＃x1f4ac;"Idiopathic basal ganglia calcification", "IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  0- 123123人年齢分布&＃x1f4ac; 28全身性アミロイドーシス [代] &＃x1f4ac;"Systemic amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Immunoglobulin-related amyloidosis", "Reactive AA amyloidosis", "Senile transthyretin amyloidosis", "Senile TTR amyloidosis", "Senile systemic amyloidosis", "Familial amyloidosis", "Familial amyloid polyneuropathy", "FAP" 267267 trials   | 82 / 116 / 111 / 11 &＃x1f4ac;  241241 drugs  [ 7777 drugs ]  6868 genes  |  180 pathways 55875,587人年齢分布&＃x1f4ac; 29ウルリッヒ病 [神] &＃x1f4ac;"Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" 0-  0-  0- 1919人年齢分布&＃x1f4ac; 30遠位型ミオパチー [神] &＃x1f4ac;"Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy" 1515 trials   | 1 / 5 / 12 / 0 &＃x1f4ac;  1717 drugs  [ 33 drugs ]  11 gene  |  1 pathway 315315人年齢分布&＃x1f4ac; 31ベスレムミオパチー [神] &＃x1f4ac;"Bethlem myopathy", "Beth Rem myopathy" 0-  0-  0- 2121人年齢分布&＃x1f4ac; 32自己貪食空胞性ミオパチー [神] &＃x1f4ac;"Autophagic vacuolar myopathy", "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" 11 trial   | 1 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 0- ]  0- 99人年齢分布&＃x1f4ac; 33シュワルツ・ヤンペル症候群 [神] &＃x1f4ac;"Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" 0-  0-  0- 11人年齢分布&＃x1f4ac; 34神経線維腫症 [皮] &＃x1f4ac;"Neurofibromatosis", "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2" 133133 trials   | 54 / 85 / 15 / 8 &＃x1f4ac;  186186 drugs  [ 6767 drugs ]  7979 genes  |  190 pathways 40564,056人年齢分布&＃x1f4ac; 35天疱瘡 [皮] &＃x1f4ac;"Pemphigus", "Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP" 9999 trials   | 44 / 36 / 49 / 7 &＃x1f4ac;  124124 drugs  [ 3636 drugs ]  2323 genes  |  169 pathways 31763,176人年齢分布&＃x1f4ac; 36表皮水疱症 [皮] &＃x1f4ac;"Epidermolysis bullosa", "Epidermolysis bullosa simplex", "EBS", "Junctional epidermolysis bullosa", "JEB", "Junctional epidermolysis bullosa type Herlitz", "JEB-H", "Junctional epidermolysis bullosa type non-Herlitz", "JEB-nH", "Dominant dystrophic epidermolysis bullosa", "DDEB", "Dystrophic epidermolysis bullosa", "DEB", "Epidermolysis bullosa dystrophica", "Recessive dystrophic epidermolysis bullosa", "RDEB", "Kindler syndrome" 163163 trials   | 117 / 99 / 53 / 16 &＃x1f4ac;  185185 drugs  [ 4646 drugs ]  5050 genes  |  125 pathways 291291人年齢分布&＃x1f4ac; 37膿疱性乾癬（汎発型） [皮] &＃x1f4ac;"Generalised pustular psoriasis", "Pustular psoriasis", "Acute generalised pustular psoriasis, von Zumbusch type", "Herpetic impetigo", "Generalization of acrodermatitis continua", "Generalization of dermatitis continua of the extremities", "Infantile generalized pustular psoriasis", "Pediatric generalized pustular psoriasis" 7979 trials   | 27 / 30 / 39 / 8 &＃x1f4ac;  5757 drugs  [ 2121 drugs ]  2020 genes  |  102 pathways 21322,132人年齢分布&＃x1f4ac; 38スティーヴンス・ジョンソン症候群 [皮] &＃x1f4ac;"Stevens-Johnson syndrome", "SJS", "Mucocutaneous ocular syndrome" 1717 trials   | 11 / 11 / 4 / 2 &＃x1f4ac;  2929 drugs  [ 99 drugs ]  1515 genes  |  101 pathways 171171人年齢分布&＃x1f4ac; 39中毒性表皮壊死症 [皮] &＃x1f4ac;"Toxic epidermal necrolysis", "Toxic epidermal necrosis", "TEN" 1313 trials   | 5 / 8 / 2 / 1 &＃x1f4ac;  1919 drugs  [ 88 drugs ]  1111 genes  |  103 pathways 7171人年齢分布&＃x1f4ac; 40高安動脈炎 [免] &＃x1f4ac;"Takayasu arteritis", "Aortitis syndrome", "Pulseless disease" 2424 trials   | 0 / 5 / 8 / 3 &＃x1f4ac;  4040 drugs  [ 1818 drugs ]  2323 genes  |  110 pathways 46424,642人年齢分布&＃x1f4ac; 41巨細胞性動脈炎 [免] &＃x1f4ac;"Giant cell arteritis", "Temporal arteritis" 131131 trials   | 60 / 42 / 79 / 15 &＃x1f4ac;  139139 drugs  [ 3636 drugs ]  3333 genes  |  125 pathways 24532,453人年齢分布&＃x1f4ac; 42結節性多発動脈炎 [免] &＃x1f4ac;"Polyarteritis nodosa", "PAN" 1515 trials   | 0 / 6 / 6 / 2 &＃x1f4ac;  2626 drugs  [ 1616 drugs ]  2626 genes  |  105 pathways 21432,143人年齢分布&＃x1f4ac; 43顕微鏡的多発血管炎 [免] &＃x1f4ac;"Microscopic polyangiitis", "MPA" 8888 trials   | 61 / 44 / 42 / 21 &＃x1f4ac;  8181 drugs  [ 2121 drugs ]  1515 genes  |  90 pathways 1107811,078人年齢分布&＃x1f4ac; 44多発血管炎性肉芽腫症 [免] &＃x1f4ac;"Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" 9898 trials   | 67 / 40 / 54 / 21 &＃x1f4ac;  108108 drugs  [ 2828 drugs ]  2222 genes  |  81 pathways 34373,437人年齢分布&＃x1f4ac; 45好酸球性多発血管炎性肉芽腫症 [免] &＃x1f4ac;"Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS" 3131 trials   | 8 / 7 / 16 / 5 &＃x1f4ac;  4444 drugs  [ 1818 drugs ]  1818 genes  |  101 pathways 67236,723人年齢分布&＃x1f4ac; 46悪性関節リウマチ [免] &＃x1f4ac;"Malignant rheumatoid arthritis", "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis" 4,3564,356 trials   | 1358 / 1018 / 1235 / 670 &＃x1f4ac;  2,5672,567 drugs  [ 415415 drugs ]  192192 genes  |  228 pathways 49664,966人年齢分布&＃x1f4ac; 47バージャー病 [循] &＃x1f4ac;"Buerger disease", "Thromboangiitis obliterans" 99 trials   | 0 / 3 / 1 / 0 &＃x1f4ac;  1414 drugs  [ 77 drugs ]  55 genes  |  16 pathways 16091,609人年齢分布&＃x1f4ac; 48原発性抗リン脂質抗体症候群 [免] &＃x1f4ac;"Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS" 55 trials   | 1 / 2 / 1 / 0 &＃x1f4ac;  66 drugs  [ 44 drugs ]  11 gene  |  7 pathways 10191,019人年齢分布&＃x1f4ac; 49全身性エリテマトーデス [免] &＃x1f4ac;"Systemic lupus erythematosus", "SLE" 993993 trials   | 415 / 404 / 286 / 118 &＃x1f4ac;  702702 drugs  [ 184184 drugs ]  116116 genes  |  200 pathways 6514565,145人年齢分布&＃x1f4ac; 50皮膚筋炎／多発性筋炎 [免] &＃x1f4ac;"Dermatomyositis", "Polymyositis" 194194 trials   | 54 / 83 / 61 / 17 &＃x1f4ac;  244244 drugs  [ 8989 drugs ]  5050 genes  |  151 pathways 2604626,046人年齢分布&＃x1f4ac; 51全身性強皮症 [免] &＃x1f4ac;"Scleroderma", "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc" 525525 trials   | 274 / 260 / 151 / 63 &＃x1f4ac;  565565 drugs  [ 148148 drugs ]  114114 genes  |  217 pathways 2701327,013人年齢分布&＃x1f4ac; 52混合性結合組織病 [免] &＃x1f4ac;"Mixed connective tissue disease" 88 trials   | 0 / 5 / 1 / 0 &＃x1f4ac;  77 drugs  [ 33 drugs ]  11 gene  |  1 pathway 1009910,099人年齢分布&＃x1f4ac; 53シェーグレン症候群 [免] &＃x1f4ac;"Sjogren syndrome", "Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS" 305305 trials   | 82 / 190 / 40 / 34 &＃x1f4ac;  325325 drugs  [ 104104 drugs ]  5858 genes  |  188 pathways 1929019,290人年齢分布&＃x1f4ac; 54成人スチル病 [免] &＃x1f4ac;"Adult still disease", "Adult-onset Stills disease" 22 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  11 gene  |  12 pathways 44584,458人年齢分布&＃x1f4ac; 55再発性多発軟骨炎 [免] &＃x1f4ac;"Relapsing polychondritis" 88 trials   | 1 / 4 / 0 / 0 &＃x1f4ac;  1010 drugs  [ 99 drugs ]  1212 genes  |  101 pathways 993993人年齢分布&＃x1f4ac; 56ベーチェット病 [免] &＃x1f4ac;"Behcet disease", "Behçet disease", "BD", "Complete Behcet disease", "Complete Behçet disease", "CBD", "Incomplete Behcet disease", "Incomplete Behçet disease", "Special-type Behcet disease", "Special-type Behçet disease", "Special-type BD" 8181 trials   | 10 / 20 / 26 / 6 &＃x1f4ac;  107107 drugs  [ 3030 drugs ]  3636 genes  |  116 pathways 1515715,157人年齢分布&＃x1f4ac; 57特発性拡張型心筋症 [循] &＃x1f4ac;"Idiopathic dilated cardiomyopathy" 1111 trials   | 3 / 6 / 1 / 3 &＃x1f4ac;  2323 drugs  [ 1212 drugs ]  99 genes  |  35 pathways 1823418,234人年齢分布&＃x1f4ac; 58肥大型心筋症 [循] &＃x1f4ac;"Hypertrophic cardiomyopathy", "HCM", "Nonobstructive hypertrophic cardiomyopathy", "Nonobstructive HCM", "Obstructive hypertrophic cardiomyopathy", "Obstructive HCM", "OHCM", "Hypertrophic obstructive cardiomyopathy", "HOCM", "Mid-ventricular obstructive hypertrophic cardiomyopathy", "MVOHCM", "Mid-ventricular hypertrophic obstructive cardiomyopathy", "MVHOCM", "Apical hypertrophic cardiomyopathy", "APH", "Expansion phase hypertrophic cardiomyopathy" 126126 trials   | 21 / 55 / 43 / 14 &＃x1f4ac;  135135 drugs  [ 4242 drugs ]  4646 genes  |  162 pathways 43184,318人年齢分布&＃x1f4ac; 59拘束型心筋症 [循] &＃x1f4ac;"Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" 0-  0-  0- 6060人年齢分布&＃x1f4ac; 60再生不良性貧血 [血] &＃x1f4ac;"Aplastic anemia", "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia" 245245 trials   | 53 / 143 / 30 / 21 &＃x1f4ac;  318318 drugs  [ 8686 drugs ]  4444 genes  |  166 pathways 83028,302人年齢分布&＃x1f4ac; 61自己免疫性溶血性貧血 [血] &＃x1f4ac;"Autoimmune hemolytic anemia", "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome" 146146 trials   | 29 / 69 / 68 / 6 &＃x1f4ac;  131131 drugs  [ 5959 drugs ]  2828 genes  |  158 pathways 12781,278人年齢分布&＃x1f4ac; 62発作性夜間ヘモグロビン尿症 [血] &＃x1f4ac;"Paroxysmal nocturnal hemoglobinuria", "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type" 292292 trials   | 107 / 106 / 174 / 23 &＃x1f4ac;  151151 drugs  [ 4949 drugs ]  2222 genes  |  108 pathways 10351,035人年齢分布&＃x1f4ac; 63特発性血小板減少性紫斑病 [血] &＃x1f4ac;"Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia" 391391 trials   | 148 / 85 / 191 / 61 &＃x1f4ac;  235235 drugs  [ 5050 drugs ]  4949 genes  |  139 pathways 1659916,599人年齢分布&＃x1f4ac; 64血栓性血小板減少性紫斑病 [血] &＃x1f4ac;"Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP" 9292 trials   | 29 / 31 / 50 / 8 &＃x1f4ac;  8585 drugs  [ 2121 drugs ]  1818 genes  |  76 pathways 385385人年齢分布&＃x1f4ac; 65原発性免疫不全症候群 [血] &＃x1f4ac;"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", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "Immunodeficiency associated with FCN3 mutation", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III" 500500 trials   | 211 / 205 / 173 / 59 &＃x1f4ac;  614614 drugs  [ 119119 drugs ]  9292 genes  |  217 pathways 20622,062人年齢分布&＃x1f4ac; 66IgＡ腎症 [腎] &＃x1f4ac;"IgA nephropathy", "IgA nephritis", "Berger disease", "IgA-IgG nephropathy" 275275 trials   | 30 / 87 / 97 / 30 &＃x1f4ac;  258258 drugs  [ 8282 drugs ]  3636 genes  |  140 pathways 1335413,354人年齢分布&＃x1f4ac; 67多発性嚢胞腎 [腎] &＃x1f4ac;"Polycystic kidney disease", "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD" 221221 trials   | 97 / 78 / 110 / 29 &＃x1f4ac;  212212 drugs  [ 5555 drugs ]  4040 genes  |  151 pathways 1279012,790人年齢分布&＃x1f4ac; 68黄色靱帯骨化症 [骨] &＃x1f4ac;"Ossification of the ligamentum flavum", "Ossification of ligamentum flavum", "OLF" 22 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  44 drugs  [ 44 drugs ]  11 gene  |  3 pathways 60926,092人年齢分布&＃x1f4ac; 69後縦靱帯骨化症 [骨] &＃x1f4ac;"Ossification of posterior longitudinal ligament" 22 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  22 drugs  [ 33 drugs ]  0- 3157131,571人年齢分布&＃x1f4ac; 70広範脊柱管狭窄症 [骨] &＃x1f4ac;"Spinal stenosis", "Extensive spinal canal stenosis" 9595 trials   | 14 / 13 / 8 / 29 &＃x1f4ac;  169169 drugs  [ 6161 drugs ]  6868 genes  |  90 pathways 48744,874人年齢分布&＃x1f4ac; 71特発性大腿骨頭壊死症 [骨] &＃x1f4ac;"Idiopathic osteonecrosis of the femoral head", "Idiopathic femoral head necrosis" 22 trials   | 0 / 1 / 0 / 0 &＃x1f4ac;  33 drugs  [ 33 drugs ]  33 genes  |  7 pathways 1925619,256人年齢分布&＃x1f4ac; 72下垂体性ADH分泌異常症 [内] &＃x1f4ac;"Pituitary ADH secretion disorder", "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH" 4141 trials   | 2 / 8 / 16 / 3 &＃x1f4ac;  2727 drugs  [ 88 drugs ]  77 genes  |  10 pathways 38693,869人年齢分布&＃x1f4ac; 73下垂体性TSH分泌亢進症 [内] &＃x1f4ac;"TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism" 11 trial   | 0 / 0 / 1 / 0 &＃x1f4ac;  33 drugs  [ 22 drugs ]  0- 200200人年齢分布&＃x1f4ac; 74下垂体性PRL分泌亢進症 [内] &＃x1f4ac;"Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" 1919 trials   | 3 / 6 / 1 / 1 &＃x1f4ac;  2828 drugs  [ 1010 drugs ]  1414 genes  |  65 pathways 22062,206人年齢分布&＃x1f4ac; 75クッシング病 [内] &＃x1f4ac;"Cushing disease", "Cushing" 205205 trials   | 126 / 86 / 92 / 38 &＃x1f4ac;  176176 drugs  [ 4545 drugs ]  6161 genes  |  127 pathways 960960人年齢分布&＃x1f4ac; 76下垂体性ゴナドトロピン分泌亢進症 [内] &＃x1f4ac;"Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" 2929 trials   | 0 / 0 / 10 / 8 &＃x1f4ac;  4444 drugs  [ 1414 drugs ]  55 genes  |  15 pathways 3737人年齢分布&＃x1f4ac; 77下垂体性成長ホルモン分泌亢進症 [内] &＃x1f4ac;"Growth hormone secreting pituitary adenoma", "Pituitary growth hormone secretion hyperthyroidism" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  22 genes  |  20 pathways 43484,348人年齢分布&＃x1f4ac; 78下垂体前葉機能低下症 [内] &＃x1f4ac;"Hypopituitarism", "Anterior pituitary hypothyroidism", "Syndrome of abnormal secretion of gonadotropin", "Hyposecretion of gonadotropins", "Adrenocorticotropic hormone deficiency", "ACTH deficiency", "Thyroid-stimulating hormone deficiency", "TSH deficiency", "Growth hormone deficiency", "GH deficiency", "GHD", "Childhood GHD", "Childhood-onset GHD", "CGHD", "Adult GHD", "Adult-onset GHD", "AGHD", "Prolactin deficiency", "PRL deficiency" 492492 trials   | 130 / 105 / 159 / 65 &＃x1f4ac;  341341 drugs  [ 4747 drugs ]  4545 genes  |  100 pathways 1969319,693人年齢分布&＃x1f4ac; 79家族性高コレステロール血症（ホモ接合体） [代] &＃x1f4ac;"Homozygous familial hypercholesterolemia" 145145 trials   | 51 / 42 / 94 / 10 &＃x1f4ac;  114114 drugs  [ 2626 drugs ]  88 genes  |  17 pathways 398398人年齢分布&＃x1f4ac; 80甲状腺ホルモン不応症 [内] &＃x1f4ac;"Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH" 11 trial   | 1 / 0 / 0 / 0 &＃x1f4ac;  55 drugs  [ 33 drugs ]  33 genes  |  3 pathways 4646人年齢分布&＃x1f4ac; 81先天性副腎皮質酵素欠損症 [内] &＃x1f4ac;"Congenital adrenal hyperplasia", "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency" 8787 trials   | 30 / 40 / 39 / 6 &＃x1f4ac;  8787 drugs  [ 2323 drugs ]  1212 genes  |  68 pathways 10141,014人年齢分布&＃x1f4ac; 82先天性副腎低形成症 [内] &＃x1f4ac;"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- 5555人年齢分布&＃x1f4ac; 83アジソン病 [内] &＃x1f4ac;"Addison disease", "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome" 2020 trials   | 6 / 5 / 3 / 6 &＃x1f4ac;  3939 drugs  [ 1313 drugs ]  66 genes  |  18 pathways 346346人年齢分布&＃x1f4ac; 84サルコイドーシス [呼] &＃x1f4ac;"Sarcoidosis" 149149 trials   | 52 / 70 / 31 / 25 &＃x1f4ac;  202202 drugs  [ 7878 drugs ]  6666 genes  |  169 pathways 1562715,627人年齢分布&＃x1f4ac; 85特発性間質性肺炎 [呼] &＃x1f4ac;"Idiopathic interstitial pneumonia", "IIPs", "Idiopathic pulmonary fibrosis", "IPF", "Usual interstitial pneumonia", "UIP", "Non-specific interstitial pneumonia", "NSIP", "Acute interstitial pneumonia", "AIP", "Diffuse alveolar damage", "DAD", "Cryptogenic organizing pneumonia", "COP", "Organizing pneumonia", "OP", "Desquamative interstitial pneumonia", "DIP", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "LIP" 627627 trials   | 216 / 257 / 167 / 59 &＃x1f4ac;  443443 drugs  [ 120120 drugs ]  9999 genes  |  212 pathways 1839918,399人年齢分布&＃x1f4ac; 86肺動脈性肺高血圧症 [呼] &＃x1f4ac;"Pulmonary arterial hypertension", "PAH", "IPAH", "HPAH", "Eisenmenger syndrome" 1,2051,205 trials   | 404 / 309 / 485 / 170 &＃x1f4ac;  684684 drugs  [ 124124 drugs ]  100100 genes  |  193 pathways 45294,529人年齢分布&＃x1f4ac; 87肺静脈閉塞症／肺毛細血管腫症 [呼] &＃x1f4ac;"Pulmonary veno-occlusive disease", "Pulmonary capillary hemangiomatosis", "PVOD", "PCH" 33 trials   | 1 / 1 / 0 / 0 &＃x1f4ac;  44 drugs  [ 33 drugs ]  44 genes  |  45 pathways 2525人年齢分布&＃x1f4ac; 88慢性血栓塞栓性肺高血圧症 [呼] &＃x1f4ac;"Chronic thromboembolic pulmonary hypertension", "CTEPH", "Idiopathic chronic pulmonary thromboembolism" 157157 trials   | 77 / 51 / 70 / 18 &＃x1f4ac;  107107 drugs  [ 2222 drugs ]  1414 genes  |  54 pathways 52305,230人年齢分布&＃x1f4ac; 89リンパ脈管筋腫症 [呼] &＃x1f4ac;"Lymphangioleiomyomatosis", "LAM", "Sporadic lymphangioleiomyomatosis", "Sporadic LAM", "Lymphangioleiomyomatosis with tuberous sclerosis", "TSC-LAM" 3838 trials   | 14 / 18 / 8 / 2 &＃x1f4ac;  3838 drugs  [ 1515 drugs ]  1818 genes  |  118 pathways 928928人年齢分布&＃x1f4ac; 90網膜色素変性症 [視] &＃x1f4ac;"Retinitis pigmentosa", "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy" 147147 trials   | 99 / 76 / 50 / 9 &＃x1f4ac;  176176 drugs  [ 4343 drugs ]  4949 genes  |  110 pathways 2126321,263人年齢分布&＃x1f4ac; 91バッド・キアリ症候群 [消] &＃x1f4ac;"Budd-Chiari syndrome", "BCS", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome" 44 trials   | 0 / 0 / 0 / 1 &＃x1f4ac;  55 drugs  [ 44 drugs ]  44 genes  |  14 pathways 211211人年齢分布&＃x1f4ac; 92特発性門脈圧亢進症 [消] &＃x1f4ac;"Idiopathic portal hypertension", "Banti syndrome" 0-  0-  0- 313313人年齢分布&＃x1f4ac; 93原発性胆汁性胆管炎 [消] &＃x1f4ac;"Primary biliary cholangitis", "Primary biliary cirrhosis", "PBC", "Asymptomatic primary biliary cholangitis", "Asymptomatic rimary biliary cirrhosis", "aPBC", "Symptomatic primary biliary cholangitis", "Symptomatic primary biliary cirrhosis", "sPBC" 298298 trials   | 148 / 136 / 110 / 64 &＃x1f4ac;  252252 drugs  [ 5959 drugs ]  3535 genes  |  115 pathways 1662516,625人年齢分布&＃x1f4ac; 94原発性硬化性胆管炎 [消] &＃x1f4ac;"Primary sclerosing cholangitis", "PSC", "Intrahepatic primary sclerosing cholangitis", "Intrahepatic PSC", "Extrahepatic primary sclerosing cholangitis", "Extrahepatic PSC", "Intrahepatic and extrahepatic primary sclerosing cholangitis", "Intrahepatic and extrahepatic PSC" 148148 trials   | 68 / 66 / 51 / 10 &＃x1f4ac;  118118 drugs  [ 3939 drugs ]  1818 genes  |  141 pathways 11061,106人年齢分布&＃x1f4ac; 95自己免疫性肝炎 [消] &＃x1f4ac;"Autoimmune hepatitis" 5252 trials   | 11 / 25 / 11 / 11 &＃x1f4ac;  6868 drugs  [ 2727 drugs ]  1818 genes  |  111 pathways 70817,081人年齢分布&＃x1f4ac; 96クローン病 [消] &＃x1f4ac;"Crohn disease", "Terminal ileitis" 2,4422,442 trials   | 898 / 766 / 1004 / 332 &＃x1f4ac;  1,2781,278 drugs  [ 248248 drugs ]  142142 genes  |  209 pathways 5018450,184人年齢分布&＃x1f4ac; 97潰瘍性大腸炎 [消] &＃x1f4ac;"Ulcerative colitis" 2,6302,630 trials   | 943 / 957 / 1089 / 298 &＃x1f4ac;  1,4591,459 drugs  [ 265265 drugs ]  144144 genes  |  202 pathways 141387141,387人年齢分布&＃x1f4ac; 98好酸球性消化管疾患 [消] &＃x1f4ac;"Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "Neonatal Food-protein induced enterocolitis syndrome", "N-FPIES" 172172 trials   | 48 / 64 / 90 / 13 &＃x1f4ac;  149149 drugs  [ 3939 drugs ]  3838 genes  |  135 pathways 12801,280人年齢分布&＃x1f4ac; 99慢性特発性偽性腸閉塞症 [消] &＃x1f4ac;"Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP" 44 trials   | 0 / 4 / 0 / 0 &＃x1f4ac;  99 drugs  [ 22 drugs ]  11 gene  |  4 pathways 182182人年齢分布&＃x1f4ac; 100巨大膀胱短小結腸腸管蠕動不全症 [消] &＃x1f4ac;"Megacystis microcolon intestinal hypoperistalsis syndrome", "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency" 0-  0-  0- 22人年齢分布&＃x1f4ac; 101腸管神経節細胞僅少症 [消] &＃x1f4ac;"Congenital isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" 0-  0-  0- 1616人年齢分布&＃x1f4ac; 102ルビンシュタイン・テイビ症候群 [染] &＃x1f4ac;"Rubinstein-Taybi syndrome", "RSTS", "Histone acetylation disorder" 33 trials   | 0 / 2 / 0 / 0 &＃x1f4ac;  55 drugs  [ 11 drug ]  77 genes  |  17 pathways 77人年齢分布&＃x1f4ac; 103CFC症候群 [染] &＃x1f4ac;"Cardio-facio-cutaneous syndrome", "CFC syndrome" 0-  0-  0- 88人年齢分布&＃x1f4ac; 104コステロ症候群 [染] &＃x1f4ac;"Costello syndrome" 0-  0-  0- 99人年齢分布&＃x1f4ac; 105チャージ症候群 [染] &＃x1f4ac;"CHARGE syndrome" 0-  0-  0- 3434人年齢分布&＃x1f4ac; 106クリオピリン関連周期熱症候群 [免] &＃x1f4ac;"Cryopyrin-associated periodic syndrome", "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" 4242 trials   | 29 / 14 / 13 / 5 &＃x1f4ac;  2424 drugs  [ 44 drugs ]  44 genes  |  48 pathways 8888人年齢分布&＃x1f4ac; 107若年性特発性関節炎 [免] &＃x1f4ac;"Juvenile idiopathic arthritis", "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA" 447447 trials   | 181 / 82 / 206 / 69 &＃x1f4ac;  297297 drugs  [ 5757 drugs ]  5252 genes  |  146 pathways 10601,060人年齢分布&＃x1f4ac; 108TNF受容体関連周期性症候群 [免] &＃x1f4ac;"TNF receptor-associated periodic syndrome" 44 trials   | 5 / 1 / 2 / 1 &＃x1f4ac;  77 drugs  [ 11 drug ]  11 gene  |  44 pathways 3535人年齢分布&＃x1f4ac; 109非典型溶血性尿毒症症候群 [腎] &＃x1f4ac;"Atypical hemolytic uremic syndrome", "aHUS" 114114 trials   | 75 / 41 / 54 / 18 &＃x1f4ac;  3636 drugs  [ 77 drugs ]  33 genes  |  11 pathways 8181人年齢分布&＃x1f4ac; 110ブラウ症候群 [免] &＃x1f4ac;"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" 0-  0-  0- 2121人年齢分布&＃x1f4ac; 111先天性ミオパチー [神] &＃x1f4ac;"Congenital myopathy", "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Multi-minicore myopathy", "Myotubular myopathy", "X-linked myotubular myopathy", "XLMTM", "Centronuclear myopathy", "CNM", "Congenital fiber-type disproportion myopathy" 1010 trials   | 11 / 8 / 1 / 2 &＃x1f4ac;  1717 drugs  [ 55 drugs ]  11 gene  |  9 pathways 377377人年齢分布&＃x1f4ac; 112マリネスコ・シェーグレン症候群 [神] &＃x1f4ac;"Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts" 0-  0-  0- 44人年齢分布&＃x1f4ac; 113筋ジストロフィー [神] &＃x1f4ac;"Muscular dystrophy", "Dystrophinopathies", "Duchenne muscular dystrophy", "DMD", "Becker muscular dystrophy", "Limb-girdle muscular dystrophy", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "Limb gridle muscular dystrophy 1C", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "Congenital muscular dystrophy", "Facioscapulohumeral muscular dystrophy", "Emery-Dreifuss muscular dystrophy", "Oculopharyngeal muscular dystrophy", "Fukuyama-type congenital muscular dystrophy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "CIntegrin α7 deficient ongenital muscular dystrophy", "Merosin-deficient congenital muscular dystrophy", "Ullrich congenital muscular dystrophy", "Rigid spine syndrome", "Dynamin 2 deficient congenital muscular dystrophy", "Telesonin-deficient congenital muscular dystrophy", "Congenital muscular dystrophy with mitochondrial structural abnormalities" 646646 trials   | 401 / 281 / 275 / 65 &＃x1f4ac;  471471 drugs  [ 105105 drugs ]  5959 genes  |  170 pathways 54445,444人年齢分布&＃x1f4ac; 114非ジストロフィー性ミオトニー症候群 [神] &＃x1f4ac;"Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia" 1313 trials   | 1 / 3 / 5 / 0 &＃x1f4ac;  1919 drugs  [ 55 drugs ]  1818 genes  |  10 pathways 2929人年齢分布&＃x1f4ac; 115遺伝性周期性四肢麻痺 [神] &＃x1f4ac;"Hereditary periodic paralysis", "Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis" 11 trial   | 1 / 0 / 0 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  1313 genes  |  7 pathways 6666人年齢分布&＃x1f4ac; 116アトピー性脊髄炎 [神] &＃x1f4ac;"Atopic myelitis", "Idiopathic eosinophilic myelitis" 0-  0-  0- 5454人年齢分布&＃x1f4ac; 117脊髄空洞症 [神] &＃x1f4ac;"Syringomyelia", "Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia" 33 trials   | 0 / 2 / 0 / 0 &＃x1f4ac;  55 drugs  [ 11 drug ]  0- 623623人年齢分布&＃x1f4ac; 118脊髄髄膜瘤 [神] &＃x1f4ac;"Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" 55 trials   | 1 / 1 / 0 / 1 &＃x1f4ac;  77 drugs  [ 44 drugs ]  22 genes  |  10 pathways 137137人年齢分布&＃x1f4ac; 119アイザックス症候群 [神] &＃x1f4ac;"Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" 0-  0-  0- 117117人年齢分布&＃x1f4ac; 120遺伝性ジストニア [神] &＃x1f4ac;"Hereditary dystonia", "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "DYT5a dystonia", "DYT5b dystonia", "DYT14 dystonia", "Segawa syndrome", "SS", "Dopa-responsive dystonia", "DRD", "DYT6 dystonia", "DYT7 dystonia", "DYT8 dystonia", "Paroxysmal nonkinesigenic dyskinesia 1", "PNKD1", "DYT9 dystonia", "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "Paroxysmal choreoathetosis and episodic ataxia and spasticity", "CSE", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "MDS", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "RDP", "Alternating hemiplegia of childhood", "AHC", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "PED", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "EKD2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Classical PKAN", "Atypical PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "INAD", "Classical INAD", "Atypical INAD", "NBIA2", "Karak syndrome", "Neurodegeneration with Brain Iron Accumulation 3", "Neuroferritinopathy", "NBIA3", "Neurodegeneration with Brain Iron Accumulation 4", "Aceruloplasminemia", "Hereditary ceruloplasmin deficiency", "NBIA4", "Neurodegeneration with Brain Iron Accumulation 5", "NBIA5", "Beta-propeller protein-associated neurodegeneration", "BPAN", "Fatty Acid Hydroxylase-associated neurodegeneration", "FAHN", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" 2626 trials   | 11 / 3 / 18 / 3 &＃x1f4ac;  1919 drugs  [ 33 drugs ]  22 genes  |  2 pathways 129129人年齢分布&＃x1f4ac; 121神経フェリチン症 [神] &＃x1f4ac;"Neuroferritinopathy" 0-  0-  0- 22人年齢分布&＃x1f4ac; 122脳表ヘモジデリン沈着症 [神] &＃x1f4ac;"Superficial siderosis", "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis" 33 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  33 drugs  [ 22 drugs ]  0- 227227人年齢分布&＃x1f4ac; 123禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 [神] &＃x1f4ac;"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" 0-  0-  0- 66人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"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" 1212 trials   | 10 / 7 / 2 / 2 &＃x1f4ac;  1414 drugs  [ 55 drugs ]  33 genes  |  11 pathways 223223人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"Hereditary diffuse leukoencephalopathy with spheroid", "HDLS", "Hereditary diffuse leukoencephalopathy" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  99 drugs  [ 11 drug ]  0- 6868人年齢分布&＃x1f4ac; 126ペリー症候群 [神] &＃x1f4ac;"Perry syndrome" 0-  0-  0- 33人年齢分布&＃x1f4ac; 127前頭側頭葉変性症 [神] &＃x1f4ac;"Frontotemporal lobar degeneration", "Frontotemporal dementia", "Semantic dementia" 9090 trials   | 32 / 36 / 31 / 8 &＃x1f4ac;  8787 drugs  [ 3030 drugs ]  3939 genes  |  88 pathways 13521,352人年齢分布&＃x1f4ac; 128ビッカースタッフ脳幹脳炎 [神] &＃x1f4ac;"Bickerstaff brainstem encephalitis" 0-  0-  0- 7878人年齢分布&＃x1f4ac; 129痙攣重積型（二相性）急性脳症 [神] &＃x1f4ac;"Acute encephalopathy with biphasic seizures and late reduced diffusion", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  0- 4747人年齢分布&＃x1f4ac; 130先天性無痛無汗症 [神] &＃x1f4ac;"Congenital insensitivity to pain with anhydrosis", "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" 0-  0-  0- 4545人年齢分布&＃x1f4ac; 131アレキサンダー病 [神] &＃x1f4ac;"Alexander disease", "ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3" 44 trials   | 3 / 3 / 4 / 0 &＃x1f4ac;  44 drugs  [ 11 drug ]  0- 5050人年齢分布&＃x1f4ac; 132先天性核上性球麻痺 [神] &＃x1f4ac;"Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" 0-  0-  0- 77人年齢分布&＃x1f4ac; 133メビウス症候群 [神] &＃x1f4ac;"Moebius syndrome", "Mobius syndrome", "Möbius syndrome" 0-  0-  0- 1414人年齢分布&＃x1f4ac; 134中隔視神経形成異常症／ドモルシア症候群 [視] &＃x1f4ac;"Septo-optic dysplasia", "De Morsier syndrome" 11 trial   | 0 / 0 / 0 / 1 &＃x1f4ac;  11 drug  [ 0- ]  0- 1414人年齢分布&＃x1f4ac; 135アイカルディ症候群 [神] &＃x1f4ac;"Aicardi syndrome" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  99 drugs  [ 33 drugs ]  0- 1313人年齢分布&＃x1f4ac; 136片側巨脳症 [神] &＃x1f4ac;"Hemimegalencephaly", "Unilateral megalencephaly" 0-  0-  0- 2323人年齢分布&＃x1f4ac; 137限局性皮質異形成 [神] &＃x1f4ac;"Focal cortical dysplasia", "FCD", "FCD type 1a", "FCD type 1b", "FCD type 1c", "FCD type 2a", "FCD type 2b", "FCD type 3a", "FCD type 3b", "FCD type 3c", "FCD type 3d" 99 trials   | 0 / 6 / 0 / 0 &＃x1f4ac;  55 drugs  [ 33 drugs ]  11 gene  |  51 pathways 7777人年齢分布&＃x1f4ac; 138神経細胞移動異常症 [神] &＃x1f4ac;"Nerve cell migration disorder", "Lissencephaly", "Neuronal migration defect", "Classical lissencephaly", "Ectopic gray matter", "Subcortical ectopic gray matter", "Periventricular nodular ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome", "Perisylvian polymicrogyria", "X-linked Lissencephaly" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  22 drugs  [ 11 drug ]  11 gene  |  106 pathways 7676人年齢分布&＃x1f4ac; 139先天性大脳白質形成不全症 [神] &＃x1f4ac;"Congenital cerebral hypomyelination", "Congenital cerebral white matter aplasia", "Pelizaeus-Merzbacher disease", "Pelizaeus-Merzbacher-like disease 1", "Pelizaeus-Merzbacher-like disease type 1", "Hypomyelination with atrophy of the basal ganglia and cerebellum", "18q-syndrome", "Chromosome 18q deletion syndrome", "Allan-Herndon-Dudley syndrome", "Mitochondrial Hsp60 chaperonopathy", "Salla disease", "Free sialic acid storage disease", "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "Hypomyelination and congenital cataract", "Ataxia, delayed dentition, and hypomyelination", "Peripheral demyelinating neuropathy", "Central dysmyelinating leukodystrophy", "Waardenburg syndrome", "Hirschsprung disease" 1010 trials   | 1 / 7 / 0 / 0 &＃x1f4ac;  77 drugs  [ 22 drugs ]  22 genes  |  2 pathways 4444人年齢分布&＃x1f4ac; 140ドラベ症候群 [神] &＃x1f4ac;"Dorabe syndrome", "Dravet syndrome" 116116 trials   | 46 / 25 / 80 / 11 &＃x1f4ac;  6565 drugs  [ 1717 drugs ]  5050 genes  |  64 pathways 8484人年齢分布&＃x1f4ac; 141海馬硬化を伴う内側側頭葉てんかん [神] &＃x1f4ac;"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" 11 trial   | 1 / 1 / 0 / 0 &＃x1f4ac;  11 drug  [ 0- ]  0- 7272人年齢分布&＃x1f4ac; 142ミオクロニー欠神てんかん [神] &＃x1f4ac;"Myoclonic absence epilepsy" 0-  0-  0- 44人年齢分布&＃x1f4ac; 143ミオクロニー脱力発作を伴うてんかん [神] &＃x1f4ac;"Epilepsy with myoclonic-atonic seizure", "Epilepsy with myoclonic cataplexy" 0-  0-  0- 1919人年齢分布&＃x1f4ac; 144レノックス・ガストー症候群 [神] &＃x1f4ac;"Lennox-Gastaut syndrome" 111111 trials   | 35 / 17 / 79 / 8 &＃x1f4ac;  7272 drugs  [ 1414 drugs ]  4949 genes  |  61 pathways 348348人年齢分布&＃x1f4ac; 145ウエスト症候群 [神] &＃x1f4ac;"West syndrome", "Infantile spasm" 4343 trials   | 16 / 15 / 18 / 9 &＃x1f4ac;  5252 drugs  [ 1515 drugs ]  2828 genes  |  26 pathways 290290人年齢分布&＃x1f4ac; 146大田原症候群 [神] &＃x1f4ac;"Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst" 0-  0-  0- 2121人年齢分布&＃x1f4ac; 147早期ミオクロニー脳症 [神] &＃x1f4ac;"Early myoclonic encephalopathy" 0-  0-  0- 99人年齢分布&＃x1f4ac; 148遊走性焦点発作を伴う乳児てんかん [神] &＃x1f4ac;"Epilepsy of infancy with migrating focal seizure", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" 0-  0-  0- 1818人年齢分布&＃x1f4ac; 149片側痙攣・片麻痺・てんかん症候群 [神] &＃x1f4ac;"Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome" 2525 trials   | 3 / 4 / 8 / 3 &＃x1f4ac;  3535 drugs  [ 1313 drugs ]  1616 genes  |  22 pathways 3333人年齢分布&＃x1f4ac; 150環状20番染色体症候群 [神] &＃x1f4ac;"Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome" 0-  0-  0- 1212人年齢分布&＃x1f4ac; 151ラスムッセン脳炎 [神] &＃x1f4ac;"Rasmussen encephalitis" 11 trial   | 0 / 1 / 1 / 0 &＃x1f4ac;  22 drugs  [ 11 drug ]  55 genes  |  33 pathways 4848人年齢分布&＃x1f4ac; 152ＰＣＤＨ19関連症候群 [神] &＃x1f4ac;"PCDH19 related syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" 1010 trials   | 5 / 5 / 5 / 1 &＃x1f4ac;  77 drugs  [ 11 drug ]  1616 genes  |  7 pathways 1212人年齢分布&＃x1f4ac; 153難治頻回部分発作重積型急性脳炎 [神] &＃x1f4ac;"Acute encephalitis with refractory, repetitive partial seizure", "AERRPS", "Refractory frequent partial seizures intussusception acute encephalitis", "Febrile infection related epilepsy syndrome", "FIRES", "New onset refractory status epilepsy syndrome", "NORSE syndrome" 0-  0-  0- 6565人年齢分布&＃x1f4ac; 154徐波睡眠期持続性棘徐波を示すてんかん性脳症 [神] &＃x1f4ac;"Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep" 77 trials   | 0 / 7 / 0 / 0 &＃x1f4ac;  44 drugs  [ 33 drugs ]  1313 genes  |  7 pathways 2121人年齢分布&＃x1f4ac; 155ランドウ・クレフナー症候群 [神] &＃x1f4ac;"Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome" 11 trial   | 0 / 1 / 1 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  2929 genes  |  14 pathways 44人年齢分布&＃x1f4ac; 156レット症候群 [神] &＃x1f4ac;"Rett syndrome", "Typical Rett syndrome", "Atypical Rett syndrome" 4444 trials   | 4 / 24 / 16 / 0 &＃x1f4ac;  6161 drugs  [ 2323 drugs ]  5757 genes  |  83 pathways 109109人年齢分布&＃x1f4ac; 157スタージ・ウェーバー症候群 [神] &＃x1f4ac;"Sturge-Weber syndrome", "Síndrome de Sturge-Weber" 1010 trials   | 3 / 6 / 1 / 1 &＃x1f4ac;  1313 drugs  [ 44 drugs ]  55 genes  |  63 pathways 7575人年齢分布&＃x1f4ac; 158結節性硬化症 [神] &＃x1f4ac;"Tuberous sclerosis", "Tuberous sclerosis complex" 112112 trials   | 49 / 40 / 55 / 17 &＃x1f4ac;  7171 drugs  [ 1919 drugs ]  3535 genes  |  118 pathways 10171,017人年齢分布&＃x1f4ac; 159色素性乾皮症 [皮] &＃x1f4ac;"Xeroderma pigmentosum", "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V" 1111 trials   | 1 / 8 / 1 / 0 &＃x1f4ac;  1717 drugs  [ 55 drugs ]  55 genes  |  15 pathways 8282人年齢分布&＃x1f4ac; 160先天性魚鱗癬 [皮] &＃x1f4ac;"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", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS" 4242 trials   | 25 / 21 / 11 / 5 &＃x1f4ac;  7171 drugs  [ 2121 drugs ]  1818 genes  |  112 pathways 100100人年齢分布&＃x1f4ac; 161家族性良性慢性天疱瘡 [皮] &＃x1f4ac;"Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease" 55 trials   | 2 / 2 / 0 / 0 &＃x1f4ac;  99 drugs  [ 44 drugs ]  22 genes  |  24 pathways 6363人年齢分布&＃x1f4ac; 162類天疱瘡（後天性表皮水疱症を含む。） [皮] &＃x1f4ac;"Pemphigoid", "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid" 9090 trials   | 24 / 43 / 30 / 8 &＃x1f4ac;  122122 drugs  [ 4747 drugs ]  3434 genes  |  144 pathways 38503,850人年齢分布&＃x1f4ac; 163特発性後天性全身性無汗症 [皮] &＃x1f4ac;"Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" 0-  0-  0- 636636人年齢分布&＃x1f4ac; 164眼皮膚白皮症 [視] &＃x1f4ac;"Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism" 1515 trials   | 3 / 9 / 1 / 0 &＃x1f4ac;  5454 drugs  [ 3434 drugs ]  3535 genes  |  141 pathways 2828人年齢分布&＃x1f4ac; 165肥厚性皮膚骨膜症 [染] &＃x1f4ac;"Pachydermoperiostosis", "PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP" 0-  0-  0- 1919人年齢分布&＃x1f4ac; 166弾性線維性仮性黄色腫 [皮] &＃x1f4ac;"Pseudoxanthoma elasticum", "PXE" 1616 trials   | 3 / 13 / 2 / 1 &＃x1f4ac;  2727 drugs  [ 55 drugs ]  55 genes  |  28 pathways 132132人年齢分布&＃x1f4ac; 167マルファン症候群 [循] &＃x1f4ac;"Marfan syndrome" 2121 trials   | 15 / 6 / 12 / 4 &＃x1f4ac;  4040 drugs  [ 1111 drugs ]  1010 genes  |  50 pathways 11731,173人年齢分布&＃x1f4ac; 168エーラス・ダンロス症候群 [染] &＃x1f4ac;"Ehlers-Danlos syndrome", "EDS", "Classic EDS", "Classical EDS", "cEDS", "Hypermobile Ehlers-Danlos syndrome", "Hypermobile EDS", "hEDS", "Classical-like Ehlers-Danlos syndrome", "Classical-like EDS", "clEDS", "Vascular Ehlers-Danlos syndrome", "Vascular EDS", "vEDS", "Kyphoscoliosis Ehlers-Danlos syndrome", "Kyphoscoliosis EDS", "kEDS", "Arthrochalasia Ehlers-Danlos syndrome", "Arthrochalasia EDS", "aEDS", "Dermatosparaxis Ehlers-Danlos syndrome", "Dermatosparaxis EDS", "dEDS", "D4ST1-deficient Ehlers-Danlos syndrome", "Dermatan 4-0-sulfotransferase 1-deficient EDS", "D4ST1-deficient EDS", "DDEDS" 1313 trials   | 1 / 2 / 5 / 3 &＃x1f4ac;  2121 drugs  [ 1111 drugs ]  1111 genes  |  103 pathways 217217人年齢分布&＃x1f4ac; 169メンケス病 [代] &＃x1f4ac;"Menkes disease" 66 trials   | 2 / 2 / 1 / 0 &＃x1f4ac;  66 drugs  [ 44 drugs ]  99 genes  |  14 pathways 11人年齢分布&＃x1f4ac; 170オクシピタル・ホーン症候群 [染] &＃x1f4ac;"Occipital horn syndrome" 22 trials   | 1 / 1 / 1 / 0 &＃x1f4ac;  44 drugs  [ 33 drugs ]  99 genes  |  14 pathways 22人年齢分布&＃x1f4ac; 171ウィルソン病 [代] &＃x1f4ac;"Wilson disease", "WD" 7979 trials   | 42 / 24 / 32 / 15 &＃x1f4ac;  7777 drugs  [ 1717 drugs ]  66 genes  |  30 pathways 735735人年齢分布&＃x1f4ac; 172低ホスファターゼ症 [骨] &＃x1f4ac;"Hypophosphatasia" 3434 trials   | 13 / 20 / 4 / 5 &＃x1f4ac;  1717 drugs  [ 44 drugs ]  33 genes  |  6 pathways 4040人年齢分布&＃x1f4ac; 173ＶＡＴＥＲ症候群 [染] &＃x1f4ac;"VATER syndrome", "VATER association", "VACTERL association" 0-  0-  0- 1414人年齢分布&＃x1f4ac; 174那須・ハコラ病 [染] &＃x1f4ac;"Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" 0-  0-  0- 66人年齢分布&＃x1f4ac; 175ウィーバー症候群 [染] &＃x1f4ac;"Weaver syndrome" 0-  0-  0- - 176コフィン・ローリー症候群 [染] &＃x1f4ac;"Coffin-Lowry syndrome" 0-  0-  0- 55人年齢分布&＃x1f4ac; 177ジュベール症候群関連疾患 [神] &＃x1f4ac;"Joubert syndrome related disorder", "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 0- ]  0- 1616人年齢分布&＃x1f4ac; 178モワット・ウィルソン症候群 [染] &＃x1f4ac;"Mowat-Wilson syndrome" 0-  0-  0- 1414人年齢分布&＃x1f4ac; 179ウィリアムズ症候群 [循] &＃x1f4ac;"Williams syndrome" 55 trials   | 0 / 0 / 0 / 1 &＃x1f4ac;  1414 drugs  [ 77 drugs ]  88 genes  |  32 pathways 5656人年齢分布&＃x1f4ac; 180ＡＴＲ−Ｘ症候群 [染] &＃x1f4ac;"ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  33 drugs  [ 22 drugs ]  0- 66人年齢分布&＃x1f4ac; 181クルーゾン症候群 [聴] &＃x1f4ac;"Crouzon syndrome" 0-  0-  0- 2020人年齢分布&＃x1f4ac; 182アペール症候群 [聴] &＃x1f4ac;"Apert syndrome" 0-  0-  0- 1010人年齢分布&＃x1f4ac; 183ファイファー症候群 [聴] &＃x1f4ac;"Pfeiffer syndrome", "Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3" 0-  0-  0- 55人年齢分布&＃x1f4ac; 184アントレー・ビクスラー症候群 [聴] &＃x1f4ac;"Antley-Bixler syndrome" 0-  0-  0- 33人年齢分布&＃x1f4ac; 185コフィン・シリス症候群 [染] &＃x1f4ac;"Coffin-Siris syndrome" 0-  0-  0- 44人年齢分布&＃x1f4ac; 186ロスムンド・トムソン症候群 [染] &＃x1f4ac;"Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" 0-  0-  0- 33人年齢分布&＃x1f4ac; 187歌舞伎症候群 [染] &＃x1f4ac;"Kabuki syndrome" 44 trials   | 1 / 0 / 0 / 0 &＃x1f4ac;  99 drugs  [ 22 drugs ]  22 genes  |  11 pathways 1919人年齢分布&＃x1f4ac; 188多脾症候群 [循] &＃x1f4ac;"Polysplenia syndrome" 0-  0-  0- 6363人年齢分布&＃x1f4ac; 189無脾症候群 [循] &＃x1f4ac;"Asplenia syndrome" 0-  0-  0- 9191人年齢分布&＃x1f4ac; 190鰓耳腎症候群 [聴] &＃x1f4ac;"Branchio-oto-renal syndrome", "BOR syndrome" 0-  0-  0- 77人年齢分布&＃x1f4ac; 191ウェルナー症候群 [内] &＃x1f4ac;"Werner syndrome" 33 trials   | 2 / 1 / 0 / 0 &＃x1f4ac;  44 drugs  [ 33 drugs ]  0- 100100人年齢分布&＃x1f4ac; 192コケイン症候群 [染] &＃x1f4ac;"Cockayne syndrome", "CS" 44 trials   | 1 / 3 / 0 / 0 &＃x1f4ac;  77 drugs  [ 33 drugs ]  11 gene  |  51 pathways 66人年齢分布&＃x1f4ac; 193プラダー・ウィリ症候群 [内] &＃x1f4ac;"Prader-Willi syndrome" 113113 trials   | 27 / 42 / 50 / 13 &＃x1f4ac;  111111 drugs  [ 2626 drugs ]  4848 genes  |  102 pathways 175175人年齢分布&＃x1f4ac; 194ソトス症候群 [染] &＃x1f4ac;"Sotos syndrome" 0-  0-  0- 2323人年齢分布&＃x1f4ac; 195ヌーナン症候群 [染] &＃x1f4ac;"Noonan syndrome" 2525 trials   | 0 / 3 / 16 / 0 &＃x1f4ac;  2323 drugs  [ 55 drugs ]  22 genes  |  9 pathways 4646人年齢分布&＃x1f4ac; 196ヤング・シンプソン症候群 [染] &＃x1f4ac;"Young-Simpson syndrome" 0-  0-  0- - 197１ｐ36欠失症候群 [染] &＃x1f4ac;"1p36 deletion syndrome" 0-  0-  0- 88人年齢分布&＃x1f4ac; 198４ｐ欠失症候群 [染] &＃x1f4ac;"4p deletion syndrome", "4p-syndrome" 0-  0-  0- 88人年齢分布&＃x1f4ac; 199５ｐ欠失症候群 [染] &＃x1f4ac;"5p deletion syndrome", "5p-syndrome" 0-  0-  0- 77人年齢分布&＃x1f4ac; 200第14番染色体父親性ダイソミー症候群 [染] &＃x1f4ac;"Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" 0-  0-  0- 66人年齢分布&＃x1f4ac; 201アンジェルマン症候群 [神] &＃x1f4ac;"Angelman syndrome" 2525 trials   | 9 / 8 / 5 / 0 &＃x1f4ac;  4040 drugs  [ 1111 drugs ]  2222 genes  |  20 pathways 2929人年齢分布&＃x1f4ac; 202スミス・マギニス症候群 [染] &＃x1f4ac;"Smith-Magenis syndrome" 99 trials   | 7 / 4 / 2 / 1 &＃x1f4ac;  1010 drugs  [ 55 drugs ]  44 genes  |  7 pathways 44人年齢分布&＃x1f4ac; 20322ｑ11.2欠失症候群 [循] &＃x1f4ac;"22q11.2 deletion syndrome" 55 trials   | 2 / 1 / 1 / 0 &＃x1f4ac;  77 drugs  [ 11 drug ]  1414 genes  |  23 pathways 7373人年齢分布&＃x1f4ac; 204エマヌエル症候群 [染] &＃x1f4ac;"Emanuel syndrome", "Derivative 22 syndrome", "Partial trisomy (11", "22)" 0-  0-  0- 55人年齢分布&＃x1f4ac; 205脆弱Ｘ症候群関連疾患 [染] &＃x1f4ac;"Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome" 55 trials   | 0 / 2 / 1 / 0 &＃x1f4ac;  77 drugs  [ 55 drugs ]  2222 genes  |  25 pathways 88人年齢分布&＃x1f4ac; 206脆弱Ｘ症候群 [染] &＃x1f4ac;"Fragile X syndrome" 108108 trials   | 35 / 49 / 16 / 8 &＃x1f4ac;  9191 drugs  [ 3636 drugs ]  5252 genes  |  77 pathways 11人年齢分布&＃x1f4ac; 207総動脈幹遺残症 [循] &＃x1f4ac;"Persistent truncus arteriosus", "Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV" 0-  0-  0- 3838人年齢分布&＃x1f4ac; 208修正大血管転位症 [循] &＃x1f4ac;"Corrected transposition of great arteries" 0-  0-  0- 208208人年齢分布&＃x1f4ac; 209完全大血管転位症 [循] &＃x1f4ac;"Complete transposition of great vessel", "Complete transposition of great arteries", "Complete TGA", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV" 0-  0-  0- 288288人年齢分布&＃x1f4ac; 210単心室症 [循] &＃x1f4ac;"Single Ventricle", "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome" 5151 trials   | 23 / 15 / 24 / 6 &＃x1f4ac;  5353 drugs  [ 2222 drugs ]  3232 genes  |  67 pathways 479479人年齢分布&＃x1f4ac; 211左心低形成症候群 [循] &＃x1f4ac;"Hypoplastic left heart syndrome", "HLHS" 2222 trials   | 10 / 11 / 1 / 0 &＃x1f4ac;  2929 drugs  [ 99 drugs ]  55 genes  |  14 pathways 7070人年齢分布&＃x1f4ac; 212三尖弁閉鎖症 [循] &＃x1f4ac;"Tricuspid atresia", "TA" 55 trials   | 2 / 2 / 0 / 0 &＃x1f4ac;  66 drugs  [ 66 drugs ]  88 genes  |  12 pathways 199199人年齢分布&＃x1f4ac; 213心室中隔欠損を伴わない肺動脈閉鎖症 [循] &＃x1f4ac;"Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia" 0-  0-  0- 157157人年齢分布&＃x1f4ac; 214心室中隔欠損を伴う肺動脈閉鎖症 [循] &＃x1f4ac;"Pulmonary atresia with ventricular septum defect", "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with pulmonary atresia", "TFPA" 22 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  44 drugs  [ 44 drugs ]  0- 123123人年齢分布&＃x1f4ac; 215ファロー四徴症 [循] &＃x1f4ac;"Tetralogy of Fallot", "Fallot tetralogy" 1818 trials   | 4 / 5 / 2 / 1 &＃x1f4ac;  2626 drugs  [ 1414 drugs ]  1313 genes  |  45 pathways 760760人年齢分布&＃x1f4ac; 216両大血管右室起始症 [循] &＃x1f4ac;"Double outlet right ventricle" 0-  0-  0- 286286人年齢分布&＃x1f4ac; 217エプスタイン病 [循] &＃x1f4ac;"Ebstein disease", "Ebstein malformation" 0-  0-  0- 141141人年齢分布&＃x1f4ac; 218アルポート症候群 [腎] &＃x1f4ac;"Alport syndrome", "X chromosome-linked Alport syndrome", "Autosomal recessive Alport syndrome" 3030 trials   | 11 / 20 / 9 / 3 &＃x1f4ac;  3636 drugs  [ 1515 drugs ]  88 genes  |  46 pathways 258258人年齢分布&＃x1f4ac; 219ギャロウェイ・モワト症候群 [腎] &＃x1f4ac;"Galloway-Mowat syndrome" 0-  0-  0- 11人年齢分布&＃x1f4ac; 220急速進行性糸球体腎炎 [腎] &＃x1f4ac;"Rapidly progressive glomerulonephritis" 22 trials   | 0 / 1 / 2 / 0 &＃x1f4ac;  44 drugs  [ 22 drugs ]  11 gene  |  1 pathway 12451,245人年齢分布&＃x1f4ac; 221抗糸球体基底膜腎炎 [腎] &＃x1f4ac;"Anti-glomerular basement membrane disease" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  33 drugs  [ 11 drug ]  0- 364364人年齢分布&＃x1f4ac; 222一次性ネフローゼ症候群 [腎] &＃x1f4ac;"Primary nephrotic syndrome", "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN" 310310 trials   | 96 / 128 / 65 / 43 &＃x1f4ac;  295295 drugs  [ 117117 drugs ]  6363 genes  |  194 pathways 1288912,889人年齢分布&＃x1f4ac; 223一次性膜性増殖性糸球体腎炎 [腎] &＃x1f4ac;"Primary membranoproliferative glomerulonephritis", "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Mesangial proliferative primary membranoproliferative glomerulonephritis type I", "Mesangial proliferative primary MPGN I", "Primary membranoproliferative glomerulonephritis type I, chronic / nest-like type", "Primary MPGN I, chronic / nest-like type", "Primary membranoproliferative glomerulonephritis type I, acute / nest-like type", "Primary MPGN I, acute / nest-like type", "Primary membranoproliferative glomerulonephritis type I, chronic / diffuse type", "Primary MPGN I, chronic / diffuse type", "Primary membranoproliferative glomerulonephritis type I, non-lobed type", "Primary MPGN I, non-lobed type", "Primary membranoproliferative glomerulonephritis type I, acute / diffuse type", "Primary MPGN I, acute / diffuse type", "Primary membranoproliferative glomerulonephritis type I, intraductal proliferation type", "Primary MPGN I, intraductal proliferation type", "Primary membranoproliferative glomerulonephritis type I, lobation type", "Primary MPGN I, lobation type", "Primary membranoproliferative glomerulonephritis type I, end-of-life type", "Primary MPGN I, end-of-life type" 0-  0-  0- 373373人年齢分布&＃x1f4ac; 224紫斑病性腎炎 [腎] &＃x1f4ac;"Purpura nephritis" 1616 trials   | 2 / 3 / 0 / 4 &＃x1f4ac;  4343 drugs  [ 2121 drugs ]  1515 genes  |  58 pathways 10371,037人年齢分布&＃x1f4ac; 225先天性腎性尿崩症 [腎] &＃x1f4ac;"Congenital nephrogenic diabetes insipidus", "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" 1515 trials   | 7 / 5 / 1 / 3 &＃x1f4ac;  4848 drugs  [ 1818 drugs ]  3131 genes  |  65 pathways 5353人年齢分布&＃x1f4ac; 226間質性膀胱炎（ハンナ型） [腎] &＃x1f4ac;"Interstitial cystitis with Hunners ulcer", "Interstitial cystitis" 145145 trials   | 48 / 58 / 27 / 17 &＃x1f4ac;  156156 drugs  [ 5151 drugs ]  6464 genes  |  146 pathways 10161,016人年齢分布&＃x1f4ac; 227オスラー病 [染] &＃x1f4ac;"Osler disease", "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" 5656 trials   | 22 / 31 / 14 / 5 &＃x1f4ac;  7272 drugs  [ 2121 drugs ]  2323 genes  |  136 pathways 895895人年齢分布&＃x1f4ac; 228閉塞性細気管支炎 [呼] &＃x1f4ac;"Bronchiolitis obliterans", "Obliterating bronchiolitis" 9797 trials   | 49 / 40 / 36 / 16 &＃x1f4ac;  118118 drugs  [ 3232 drugs ]  3333 genes  |  156 pathways 3636人年齢分布&＃x1f4ac; 229肺胞蛋白症（自己免疫性又は先天性） [呼] &＃x1f4ac;"Autoimmune pulmonary alveolar proteinosis", "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Autoimmune PAP", "Congenital PAP" 4444 trials   | 31 / 21 / 27 / 5 &＃x1f4ac;  2222 drugs  [ 77 drugs ]  33 genes  |  14 pathways 238238人年齢分布&＃x1f4ac; 230肺胞低換気症候群 [呼] &＃x1f4ac;"Alveolar hypoventilation syndrome", "AHS", "Hypoventilation syndrome", "Obesity hypoventilation syndrome", "OHS", "Congenital central hypoventilation syndrome", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH" 66 trials   | 0 / 2 / 2 / 0 &＃x1f4ac;  77 drugs  [ 44 drugs ]  1616 genes  |  26 pathways 164164人年齢分布&＃x1f4ac; 231α1−アンチトリプシン欠乏症 [呼] &＃x1f4ac;"Alpha-1-antitrypsin deficiency", "AATD" 9393 trials   | 47 / 59 / 29 / 8 &＃x1f4ac;  7777 drugs  [ 88 drugs ]  1010 genes  |  36 pathways 1616人年齢分布&＃x1f4ac; 232カーニー複合 [内] &＃x1f4ac;"Carney complex" 22 trials   | 0 / 1 / 0 / 0 &＃x1f4ac;  22 drugs  [ 11 drug ]  11 gene  |  29 pathways 2525人年齢分布&＃x1f4ac; 233ウォルフラム症候群 [内] &＃x1f4ac;"Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" 1111 trials   | 6 / 10 / 2 / 1 &＃x1f4ac;  1717 drugs  [ 88 drugs ]  1212 genes  |  41 pathways 1414人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Infantile Refsum disease", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Refsum disease", "Primary hyperoxaluria type 1", "PH1", "Acatalasemia", "Acatalasia", "Takahara disease", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS" 3939 trials   | 30 / 21 / 18 / 5 &＃x1f4ac;  3535 drugs  [ 1212 drugs ]  1313 genes  |  45 pathways 11人年齢分布&＃x1f4ac; 235副甲状腺機能低下症 [内] &＃x1f4ac;"Hypoparathyroidism", "Accessory thyroid hypergasia disease" 8888 trials   | 16 / 20 / 38 / 18 &＃x1f4ac;  107107 drugs  [ 2424 drugs ]  55 genes  |  7 pathways 311311人年齢分布&＃x1f4ac; 236偽性副甲状腺機能低下症 [内] &＃x1f4ac;"Pseudohypoparathyroidism", "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2" 33 trials   | 0 / 2 / 0 / 0 &＃x1f4ac;  33 drugs  [ 22 drugs ]  1818 genes  |  23 pathways 119119人年齢分布&＃x1f4ac; 237副腎皮質刺激ホルモン不応症 [内] &＃x1f4ac;"ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" 0-  0-  0- 1616人年齢分布&＃x1f4ac; 238ビタミンＤ抵抗性くる病／骨軟化症 [内] &＃x1f4ac;"Vitamin D-resistant rickets", "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO" 2828 trials   | 5 / 5 / 8 / 4 &＃x1f4ac;  2020 drugs  [ 99 drugs ]  33 genes  |  16 pathways 462462人年齢分布&＃x1f4ac; 239ビタミンＤ依存性くる病／骨軟化症 [内] &＃x1f4ac;"Vitamin D-dependent rickets", "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2" 0-  0-  0- 55人年齢分布&＃x1f4ac; 240フェニルケトン尿症 [代] &＃x1f4ac;"Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" 143143 trials   | 79 / 31 / 43 / 26 &＃x1f4ac;  9090 drugs  [ 1010 drugs ]  11 gene  |  5 pathways 280280人年齢分布&＃x1f4ac; 241高チロシン血症1型 [代] &＃x1f4ac;"Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency", "Acute hypertyrosinemia type I", "Acute tyrosinemia type I", "Acute tyrosinemia I", "Subacute hypertyrosinemia type I", "Subacute tyrosinemia type I", "Subacute tyrosinemia I", "Chronic hypertyrosinemia type I", "Chronic tyrosinemia type I", "Chronic tyrosinemia I" 1414 trials   | 4 / 1 / 1 / 1 &＃x1f4ac;  77 drugs  [ 11 drug ]  11 gene  |  5 pathways 22人年齢分布&＃x1f4ac; 242高チロシン血症2型 [代] &＃x1f4ac;"Hypertyrosinemia type II", "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II", "Acute hypertyrosinemia type II", "Acute tyrosinemia type II", "Acute tyrosinemia II", "Subacute hypertyrosinemia type II", "Subacute tyrosinemia type II", "Subacute tyrosinemia II", "Chronic hypertyrosinemia type II", "Chronic tyrosinemia type II", "Chronic tyrosinemia II" 0-  0-  0- 11人年齢分布&＃x1f4ac; 243高チロシン血症3型 [代] &＃x1f4ac;"Hypertyrosinemia type III", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III", "Acute hypertyrosinemia type III", "Acute tyrosinemia type III", "Acute tyrosinemia III", "Subacute hypertyrosinemia type III", "Subacute tyrosinemia type III", "Subacute tyrosinemia III", "Chronic hypertyrosinemia type III", "Chronic tyrosinemia type III", "Chronic tyrosinemia III" 0-  0-  0- 11人年齢分布&＃x1f4ac; 244メープルシロップ尿症 [代] &＃x1f4ac;"Maple syrup urine disease", "MSUD" 11 trial   | 0 / 1 / 1 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  0- 1616人年齢分布&＃x1f4ac; 245プロピオン酸血症 [代] &＃x1f4ac;"Propionic acidemia" 1313 trials   | 5 / 7 / 1 / 0 &＃x1f4ac;  1616 drugs  [ 33 drugs ]  11 gene  |  6 pathways 1616人年齢分布&＃x1f4ac; 246メチルマロン酸血症 [代] &＃x1f4ac;"Methylmalonic acidemia" 2323 trials   | 13 / 15 / 2 / 2 &＃x1f4ac;  3131 drugs  [ 88 drugs ]  1717 genes  |  23 pathways 3333人年齢分布&＃x1f4ac; 247イソ吉草酸血症 [代] &＃x1f4ac;"Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" 0-  0-  0- 44人年齢分布&＃x1f4ac; 248グルコーストランスポーター1欠損症 [代] &＃x1f4ac;"Glucose transporter type 1 deficiency", "GLUT1 deficiency" 2929 trials   | 43 / 20 / 9 / 8 &＃x1f4ac;  99 drugs  [ 11 drug ]  0- 2121人年齢分布&＃x1f4ac; 249グルタル酸血症1型 [代] &＃x1f4ac;"Glutaric acidemia type 1" 0-  0-  0- 77人年齢分布&＃x1f4ac; 250グルタル酸血症2型 [代] &＃x1f4ac;"Glutaric acidemia type 2", "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD", "Glutaric acidemia type 2, neonatal onset type", "Multiple acyl-CoA dehydrogenase deficiency, neonatal onset type", "Multiple acyl-CoA dehydrogenation deficiency, neonatal onset type", "MADD, neonatal onset type", "Glutaric acidemia type 2, infant/school child onset type", "Multiple acyl-CoA dehydrogenase deficiency, infant/school child onset type", "Multiple acyl-CoA dehydrogenation deficiency, infant/school child onset type", "MADD, infant/school child onset type", "Glutaric acidemia type 2, adult-onset type", "Multiple acyl-CoA dehydrogenase deficiency, adult-onset type", "Multiple acyl-CoA dehydrogenation deficiency, adult-onset type", "MADD, adult-onset type" 0-  0-  0- 88人年齢分布&＃x1f4ac; 251尿素サイクル異常症 [代] &＃x1f4ac;"Urea cycle disorder", "N-acetylglutamate synthase deficiency", "NAGS deficiency", "Carbamoyl phosphate synthetase I deficiency", "CPS1 deficiency", "Ornithine transcarbamylase deficiency", "OTC deficiency", "Classic citrullinemia", "Citrullinemia type I", "Argininosuccinic aciduria", "Argininemia", "Hiperornitinemia-hiperamonemia-homocitrulinuria syndrome", "HHH syndrome" 5454 trials   | 31 / 31 / 6 / 5 &＃x1f4ac;  6161 drugs  [ 1515 drugs ]  33 genes  |  28 pathways 102102人年齢分布&＃x1f4ac; 252リジン尿性蛋白不耐症 [代] &＃x1f4ac;"Lysinuric protein intolerance" 0-  0-  0- 2525人年齢分布&＃x1f4ac; 253先天性葉酸吸収不全 [代] &＃x1f4ac;"Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption" 0-  0-  0- - 254ポルフィリン症 [代] &＃x1f4ac;"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" 7272 trials   | 19 / 17 / 38 / 3 &＃x1f4ac;  5353 drugs  [ 1616 drugs ]  1919 genes  |  35 pathways 4848人年齢分布&＃x1f4ac; 255複合カルボキシラーゼ欠損症 [代] &＃x1f4ac;"Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" 11 trial   | 1 / 1 / 0 / 0 &＃x1f4ac;  11 drug  [ 0- ]  0- 66人年齢分布&＃x1f4ac; 256筋型糖原病 [代] &＃x1f4ac;"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", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IXd", "GSDIXd", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency" 180180 trials   | 81 / 57 / 68 / 34 &＃x1f4ac;  133133 drugs  [ 2929 drugs ]  2525 genes  |  105 pathways 2626人年齢分布&＃x1f4ac; 257肝型糖原病 [代] &＃x1f4ac;"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", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency" 1414 trials   | 4 / 7 / 0 / 0 &＃x1f4ac;  2727 drugs  [ 77 drugs ]  33 genes  |  8 pathways 105105人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" 0-  0-  0- 22人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Classical lecithin-cholesterol acyltransferase deficiency", "Classical LCAT deficiency", "Partial lecithin-cholesterol acyltransferase deficiency", "Partial LCAT deficiency", "Fish-eye disease" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 0- ]  0- 33人年齢分布&＃x1f4ac; 260シトステロール血症 [代] &＃x1f4ac;"Sitosterolemia" 1212 trials   | 0 / 1 / 5 / 0 &＃x1f4ac;  1111 drugs  [ 33 drugs ]  11 gene  |  1 pathway 2222人年齢分布&＃x1f4ac; 261タンジール病 [代] &＃x1f4ac;"Tangier disease" 0-  0-  0- 99人年齢分布&＃x1f4ac; 262原発性高カイロミクロン血症 [代] &＃x1f4ac;"Primary hyperchylomicronemia" 0-  0-  0- 5555人年齢分布&＃x1f4ac; 263脳腱黄色腫症 [神] &＃x1f4ac;"Cerebrotendinous xanthomatosis", "27-hydroxylase deficiency", "CYP27 deficiency" 66 trials   | 0 / 1 / 2 / 0 &＃x1f4ac;  1111 drugs  [ 22 drugs ]  22 genes  |  4 pathways 4848人年齢分布&＃x1f4ac; 264無βリポタンパク血症 [代] &＃x1f4ac;"Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" 0-  0-  0- 33人年齢分布&＃x1f4ac; 265脂肪萎縮症 [内] &＃x1f4ac;"Lipodystrophy", "Generalized congenital lipodystrophy", "Berardinelli-Seip syndrome", "Familial partial lipodystrophy", "Dunnigan-type familial partial lipodystrophy", "Kobbering-type familial partial lipodystrophy", "Acquired generalized lipodystrophy", "Lawrence syndrome", "Partial acquired lipodystrophy", "Barraquer-Simons syndrome" 112112 trials   | 33 / 34 / 20 / 30 &＃x1f4ac;  155155 drugs  [ 5555 drugs ]  2525 genes  |  97 pathways 3535人年齢分布&＃x1f4ac; 266家族性地中海熱 [免] &＃x1f4ac;"Familial mediterranean fever" 2828 trials   | 1 / 9 / 10 / 1 &＃x1f4ac;  2222 drugs  [ 55 drugs ]  1414 genes  |  59 pathways 657657人年齢分布&＃x1f4ac; 267高IgＤ症候群 [免] &＃x1f4ac;"Hyper-IgD syndrome", "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" 1111 trials   | 0 / 2 / 9 / 0 &＃x1f4ac;  66 drugs  [ 11 drug ]  11 gene  |  44 pathways 33人年齢分布&＃x1f4ac; 268中條・西村症候群 [免] &＃x1f4ac;"Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" 0-  0-  0- 88人年齢分布&＃x1f4ac; 269化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 [免] &＃x1f4ac;"Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" 2323 trials   | 7 / 14 / 7 / 2 &＃x1f4ac;  3030 drugs  [ 1212 drugs ]  1515 genes  |  106 pathways 1414人年齢分布&＃x1f4ac; 270慢性再発性多発性骨髄炎 [骨] &＃x1f4ac;"Chronic recurrent multifocal osteomyelitis" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  1010 drugs  [ 99 drugs ]  66 genes  |  73 pathways 115115人年齢分布&＃x1f4ac; 271強直性脊椎炎 [骨] &＃x1f4ac;"Ankylosing spondylitis", "Spondylarthritis ankylopoietica" 574574 trials   | 236 / 145 / 234 / 113 &＃x1f4ac;  359359 drugs  [ 6868 drugs ]  4141 genes  |  146 pathways 49814,981人年齢分布&＃x1f4ac; 272進行性骨化性線維異形成症 [骨] &＃x1f4ac;"Fibrodysplasia ossificans progressiva", "FOP" 3939 trials   | 17 / 26 / 15 / 3 &＃x1f4ac;  3838 drugs  [ 77 drugs ]  2727 genes  |  95 pathways 2424人年齢分布&＃x1f4ac; 273肋骨異常を伴う先天性側弯症 [骨] &＃x1f4ac;"Congenital scoliosis with rib anomaly", "Congenital scoliosis" 0-  0-  0- 2121人年齢分布&＃x1f4ac; 274骨形成不全症 [骨] &＃x1f4ac;"Osteogenesis Imperfecta" 9191 trials   | 24 / 23 / 32 / 11 &＃x1f4ac;  101101 drugs  [ 2020 drugs ]  1111 genes  |  48 pathways 152152人年齢分布&＃x1f4ac; 275タナトフォリック骨異形成症 [骨] &＃x1f4ac;"Thanatophoric dysplasia" 0-  0-  0- 55人年齢分布&＃x1f4ac; 276軟骨無形成症 [骨] &＃x1f4ac;"Achondroplasia" 5151 trials   | 27 / 39 / 13 / 6 &＃x1f4ac;  3434 drugs  [ 66 drugs ]  44 genes  |  26 pathways 104104人年齢分布&＃x1f4ac; 277リンパ管腫症／ゴーハム病 [呼] &＃x1f4ac;"Lymphangiomatosis", "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis" 66 trials   | 2 / 2 / 1 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  11 gene  |  51 pathways 7474人年齢分布&＃x1f4ac; 278巨大リンパ管奇形（頚部顔面病変） [呼] &＃x1f4ac;"Huge lymphatic malformation with cervicofacial lesion", "Huge lymphatic malformation", "Lymphatic malformation" 1919 trials   | 12 / 10 / 4 / 4 &＃x1f4ac;  2222 drugs  [ 77 drugs ]  55 genes  |  63 pathways 2424人年齢分布&＃x1f4ac; 279巨大静脈奇形（頚部口腔咽頭びまん性病変） [循] &＃x1f4ac;"Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation" 1515 trials   | 1 / 7 / 1 / 2 &＃x1f4ac;  2424 drugs  [ 1010 drugs ]  33 genes  |  105 pathways 4949人年齢分布&＃x1f4ac; 280巨大動静脈奇形（頚部顔面又は四肢病変） [循] &＃x1f4ac;"Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation" 2727 trials   | 14 / 7 / 2 / 6 &＃x1f4ac;  3030 drugs  [ 1515 drugs ]  1414 genes  |  153 pathways 103103人年齢分布&＃x1f4ac; 281クリッペル・トレノネー・ウェーバー症候群 [循] &＃x1f4ac;"Klippel-Trenaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS" 22 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  22 drugs  [ 11 drug ]  11 gene  |  51 pathways 244244人年齢分布&＃x1f4ac; 282先天性赤血球形成異常性貧血 [血] &＃x1f4ac;"Congenital dyserythropoietic anemia", "CDA" 11 trial   | 0 / 0 / 0 / 1 &＃x1f4ac;  11 drug  [ 11 drug ]  22 genes  |  4 pathways 88人年齢分布&＃x1f4ac; 283後天性赤芽球癆 [血] &＃x1f4ac;"Acquired pure red cell aplasia", "Pure red cell aplasia" 1919 trials   | 7 / 13 / 2 / 5 &＃x1f4ac;  3636 drugs  [ 2323 drugs ]  2020 genes  |  102 pathways 897897人年齢分布&＃x1f4ac; 284ダイアモンド・ブラックファン貧血 [血] &＃x1f4ac;"Diamond-Blackfan anemia" 3636 trials   | 18 / 25 / 4 / 2 &＃x1f4ac;  9595 drugs  [ 3434 drugs ]  2323 genes  |  126 pathways 2222人年齢分布&＃x1f4ac; 285ファンコニ貧血 [血] &＃x1f4ac;"Fanconi anemia" 6262 trials   | 27 / 37 / 3 / 1 &＃x1f4ac;  9393 drugs  [ 3030 drugs ]  3030 genes  |  144 pathways 1414人年齢分布&＃x1f4ac; 286遺伝性鉄芽球性貧血 [血] &＃x1f4ac;"Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" 77 trials   | 5 / 2 / 1 / 1 &＃x1f4ac;  2020 drugs  [ 1010 drugs ]  88 genes  |  43 pathways 1414人年齢分布&＃x1f4ac; 287エプスタイン症候群 [染] &＃x1f4ac;"Epstein syndrome" 0-  0-  0- 1212人年齢分布&＃x1f4ac; 288自己免疫性後天性凝固因子欠乏症 [血] &＃x1f4ac;"Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency" 206206 trials   | 44 / 31 / 95 / 28 &＃x1f4ac;  231231 drugs  [ 2828 drugs ]  1010 genes  |  21 pathways 404404人年齢分布&＃x1f4ac; 289クロンカイト・カナダ症候群 [消] &＃x1f4ac;"Cronkhite-Canada syndrome" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  0- 194194人年齢分布&＃x1f4ac; 290非特異性多発性小腸潰瘍症 [消] &＃x1f4ac;"Chronic nonspecific multiple ulcers of the small intestine", "Nonspecific multiple ulcers in the small intestine" 11 trial   | 1 / 1 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  11 gene  |  1 pathway 8585人年齢分布&＃x1f4ac; 291ヒルシュスプルング病（全結腸型又は小腸型） [消] &＃x1f4ac;"Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" 1212 trials   | 0 / 1 / 2 / 1 &＃x1f4ac;  2424 drugs  [ 1515 drugs ]  0- 1919人年齢分布&＃x1f4ac; 292総排泄腔外反症 [消] &＃x1f4ac;"Cloacal exstrophy", "Vesicointestinal fissure" 0-  0-  0- 1818人年齢分布&＃x1f4ac; 293総排泄腔遺残 [消] &＃x1f4ac;"Persistent cloaca" 0-  0-  0- 5050人年齢分布&＃x1f4ac; 294先天性横隔膜ヘルニア [呼] &＃x1f4ac;"Congenital diaphragmatic hernia" 1616 trials   | 6 / 4 / 6 / 3 &＃x1f4ac;  2626 drugs  [ 55 drugs ]  55 genes  |  14 pathways 1212人年齢分布&＃x1f4ac; 295乳幼児肝巨大血管腫 [消] &＃x1f4ac;"Infant huge hepatic hemangioma", "Infant giant liver hemangioma" 0-  0-  0- - 296胆道閉鎖症 [消] &＃x1f4ac;"Biliary atresia" 7171 trials   | 6 / 19 / 12 / 5 &＃x1f4ac;  7070 drugs  [ 3939 drugs ]  3535 genes  |  60 pathways 449449人年齢分布&＃x1f4ac; 297アラジール症候群 [消] &＃x1f4ac;"Alagille syndrome" 4545 trials   | 7 / 21 / 16 / 2 &＃x1f4ac;  2121 drugs  [ 1010 drugs ]  33 genes  |  5 pathways 4444人年齢分布&＃x1f4ac; 298遺伝性膵炎 [消] &＃x1f4ac;"Hereditary pancreatitis", "Chronic pancreatitis" 9595 trials   | 23 / 25 / 17 / 7 &＃x1f4ac;  148148 drugs  [ 5151 drugs ]  5353 genes  |  142 pathways 3333人年齢分布&＃x1f4ac; 299嚢胞性線維症 [消] &＃x1f4ac;"Cystic fibrosis" 1,6951,695 trials   | 668 / 515 / 636 / 214 &＃x1f4ac;  1,5271,527 drugs  [ 268268 drugs ]  111111 genes  |  174 pathways 1313人年齢分布&＃x1f4ac; 300IgＧ４関連疾患 [免] &＃x1f4ac;"IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" 4040 trials   | 4 / 8 / 15 / 5 &＃x1f4ac;  4747 drugs  [ 2121 drugs ]  1818 genes  |  141 pathways 37663,766人年齢分布&＃x1f4ac; 301黄斑ジストロフィー [視] &＃x1f4ac;"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" 4646 trials   | 21 / 28 / 8 / 1 &＃x1f4ac;  4242 drugs  [ 1111 drugs ]  99 genes  |  67 pathways 217217人年齢分布&＃x1f4ac; 302レーベル遺伝性視神経症 [視] &＃x1f4ac;"Leber hereditary optic neuropathy" 2323 trials   | 29 / 12 / 15 / 6 &＃x1f4ac;  1515 drugs  [ 55 drugs ]  55 genes  |  33 pathways 134134人年齢分布&＃x1f4ac; 303アッシャー症候群 [聴] &＃x1f4ac; [視] &＃x1f4ac;"Usher syndrome" 1010 trials   | 6 / 10 / 2 / 0 &＃x1f4ac;  1111 drugs  [ 0- ]  0- 2626人年齢分布&＃x1f4ac; 304若年発症型両側性感音難聴 [聴] &＃x1f4ac;"Juvenile-onset bilateral sensorineural hearing loss" 0-  0-  0- 5353人年齢分布&＃x1f4ac; 305遅発性内リンパ水腫 [聴] &＃x1f4ac;"Delayed endolymphatic hydrops" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 11 drug ]  0- 2828人年齢分布&＃x1f4ac; 306好酸球性副鼻腔炎 [免] &＃x1f4ac; [聴] &＃x1f4ac;"Eosinophilic sinusitis" 0-  0-  0- 2234022,340人年齢分布&＃x1f4ac; 307カナバン病 [神] &＃x1f4ac;"Canavan disease" 66 trials   | 3 / 3 / 0 / 0 &＃x1f4ac;  1111 drugs  [ 55 drugs ]  22 genes  |  2 pathways - 308進行性白質脳症 [神] &＃x1f4ac;"Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure" 0-  0-  0- 2020人年齢分布&＃x1f4ac; 309進行性ミオクローヌスてんかん [神] &＃x1f4ac;"Progressive myoclonus epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" 1111 trials   | 0 / 0 / 6 / 0 &＃x1f4ac;  1515 drugs  [ 22 drugs ]  44 genes  |  9 pathways 4343人年齢分布&＃x1f4ac; 310先天異常症候群 [染] &＃x1f4ac;"Congenital anomalies syndrome", "Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" 1111 trials   | 2 / 7 / 0 / 0 &＃x1f4ac;  2020 drugs  [ 1010 drugs ]  33 genes  |  7 pathways 3232人年齢分布&＃x1f4ac; 311先天性三尖弁狭窄症 [循] &＃x1f4ac;"Congenital tricuspid stenosis" 0-  0-  0- 44人年齢分布&＃x1f4ac; 312先天性僧帽弁狭窄症 [循] &＃x1f4ac;"Congenital mitral stenosis" 0-  0-  0- 1313人年齢分布&＃x1f4ac; 313先天性肺静脈狭窄症 [循] &＃x1f4ac;"Congenital pulmonary vein stenosis" 0-  0-  0- 22人年齢分布&＃x1f4ac; 314左肺動脈右肺動脈起始症 [循] &＃x1f4ac;"Vascular sling" 0-  0-  0- 22人年齢分布&＃x1f4ac; 315ネイルパテラ症候群（爪膝蓋骨症候群）/ＬＭＸ１Ｂ関連腎症 [腎] &＃x1f4ac;"Nail-Patella syndrome", "LMX1B-associated nephropathy" 0-  0-  0- 1212人年齢分布&＃x1f4ac; 316カルニチン回路異常症 [代] &＃x1f4ac;"Carnitine cycle disorder", "Carnitine palmitoyltransferase I deficiency", "CPT1 deficiency", "Carnitine palmitoyltransferase II deficiency", "CPT2 deficiency", "Carnitine-acylcarnitine translocase deficiency", "CACT deficiency", "Carnitine transporter deficiency", "OCTN-2 deficiency" 44 trials   | 0 / 1 / 1 / 0 &＃x1f4ac;  1010 drugs  [ 44 drugs ]  22 genes  |  11 pathways 2020人年齢分布&＃x1f4ac; 317三頭酵素欠損症 [代] &＃x1f4ac;"Trifunctional protein deficiency", "TFP deficiency", "Trifunctional protein deficiency, neonatal onset", "TFP deficiency, neonatal onset", "Trifunctional protein deficiency, infant onset", "TFP deficiency, infant onset", "Trifunctional protein deficiency, delayed onset", "TFP deficiency, delayed onset", "Trifunctional protein deficiency, pre onset", "TFP deficiency, pre onset" 44 trials   | 1 / 0 / 0 / 0 &＃x1f4ac;  99 drugs  [ 44 drugs ]  11 gene  |  1 pathway 44人年齢分布&＃x1f4ac; 318シトリン欠損症 [代] &＃x1f4ac;"Citrin deficiency", "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" 22 trials   | 0 / 1 / 0 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  0- 6464人年齢分布&＃x1f4ac; 319セピアプテリン還元酵素（SR）欠損症 [代] &＃x1f4ac;"Sepiapterin reductase deficiency" 0-  0-  0- 22人年齢分布&＃x1f4ac; 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] &＃x1f4ac;"Inherited glycosylphosphatidylinositol deficiency", "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency" 33 trials   | 0 / 0 / 0 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  0- 11人年齢分布&＃x1f4ac; 321非ケトーシス型高グリシン血症 [代] &＃x1f4ac;"Non-ketotic hyperglycinemia", "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  0- 33人年齢分布&＃x1f4ac; 322β−ケトチオラーゼ欠損症 [代] &＃x1f4ac;"Beta-ketothiolase deficiency" 0-  0-  0- - 323芳香族L-アミノ酸脱炭酸酵素欠損症 [代] &＃x1f4ac;"Aromatic L-amino acid decarboxylase deficiency" 0-  0-  0- 55人年齢分布&＃x1f4ac; 324メチルグルタコン酸尿症 [代] &＃x1f4ac;"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", "Mitochondrial respiratory chain disorder", "3-MGA type IV", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome", "3-MGA type V" 44 trials   | 5 / 2 / 2 / 1 &＃x1f4ac;  44 drugs  [ 33 drugs ]  11 gene  |  10 pathways 11人年齢分布&＃x1f4ac; 325遺伝性自己炎症疾患 [免] &＃x1f4ac;"Hereditary autoinflammatory syndrome", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20" 55 trials   | 1 / 4 / 0 / 0 &＃x1f4ac;  1111 drugs  [ 66 drugs ]  22 genes  |  35 pathways 1414人年齢分布&＃x1f4ac; 326大理石骨病 [代] &＃x1f4ac;"Osteopetrosis", "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis" 1818 trials   | 4 / 12 / 4 / 0 &＃x1f4ac;  4343 drugs  [ 1414 drugs ]  1717 genes  |  82 pathways 2121人年齢分布&＃x1f4ac; 327特発性血栓症（遺伝性血栓性素因によるものに限る。） [血] &＃x1f4ac;"Idiopathic thrombosis" 0-  0-  0- 243243人年齢分布&＃x1f4ac; 328前眼部形成異常 [視] &＃x1f4ac;"Anterior segment dysgenesis", "ASD" 0-  0-  0- 1717人年齢分布&＃x1f4ac; 329無虹彩症 [視] &＃x1f4ac;"Aniridia" 33 trials   | 0 / 2 / 0 / 0 &＃x1f4ac;  22 drugs  [ 22 drugs ]  0- 138138人年齢分布&＃x1f4ac; 330先天性気管狭窄症/先天性声門下狭窄症 [呼] &＃x1f4ac; [聴] &＃x1f4ac;"Congenital tracheal stenosis", "Congenital subglottic stenosis" 11 trial   | 0 / 1 / 0 / 0 &＃x1f4ac;  33 drugs  [ 22 drugs ]  0- 4444人年齢分布&＃x1f4ac; 331特発性多中心性キャッスルマン病 [血] &＃x1f4ac;"Idiopathic multicentric castleman disease", "iMCD", "Castleman disease" 3333 trials   | 15 / 24 / 2 / 4 &＃x1f4ac;  4141 drugs  [ 2121 drugs ]  2222 genes  |  123 pathways 16941,694人年齢分布&＃x1f4ac; 332膠様滴状角膜ジストロフィー [視] &＃x1f4ac;"Gelatinous drop-like corneal dystrophy" 0-  0-  0- 33人年齢分布&＃x1f4ac; 333ハッチンソン・ギルフォード症候群 [染] &＃x1f4ac;"Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS" 88 trials   | 2 / 5 / 0 / 0 &＃x1f4ac;  88 drugs  [ 33 drugs ]  44 genes  |  6 pathways - 334脳クレアチン欠乏症候群 [神] &＃x1f4ac;"Cerebral creatine deficiency syndrome", "CCDS" 0-  0-  0- - 335ネフロン癆 [腎] &＃x1f4ac;"Nephronophthisis", "NPHP", "NPH" 11 trial   | 0 / 0 / 0 / 0 &＃x1f4ac;  11 drug  [ 0- ]  0- 1717人年齢分布&＃x1f4ac; 336家族性低βリポタンパク血症1（ホモ接合体） [代] &＃x1f4ac;"Familial hypobetalipoproteinemia 1", "FHBL1" 0-  0-  0- 11人年齢分布&＃x1f4ac; 337ホモシスチン尿症 [代] &＃x1f4ac;"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" 1616 trials   | 6 / 9 / 0 / 1 &＃x1f4ac;  1919 drugs  [ 77 drugs ]  22 genes  |  23 pathways 2424人年齢分布&＃x1f4ac; 338進行性家族性肝内胆汁うっ滞症 [消] &＃x1f4ac;"Progressive familial intrahepatic cholestasis", "PFIC" 6060 trials   | 27 / 18 / 40 / 5 &＃x1f4ac;  2626 drugs  [ 66 drugs ]  22 genes  |  2 pathways 33人年齢分布&＃x1f4ac; 問合せ先: 難病情報資源研究室 --> 難病情報資源研究プロジェクト 難治性疾患研究開発・支援センター --> 難病・免疫ゲノム研究センター 国立研究開発法人 医薬基盤・健康・栄養研究所 〒567-0085 大阪府茨木市彩都あさぎ 7-6-8 クリエイティブ・コモンズ・ライセンス（表示4.0 国際） © 2024 国立研究開発法人医薬基盤・健康・栄養研究所