Disease 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

告示番号	疾患名［疾患群］	臨床試験数 \| Phase 1 / 2 / 3 / 4	薬物数 [ DrugBank ]	標的遺伝子数 \| パスウェイ数	国内患者数医療費受給者証所持者数 (R4年度)
1	球脊髄性筋萎縮症 [神] 💬 "Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "SBMA", "Kennedy disease", "Kennedy-Alter-Sung syndrome"	18 trials \| 1 / 10 / 2 / 1 💬	15 drugs [ 8 drugs ]	10 genes \| 17 pathways	1,697人年齢分布💬
2	筋萎縮性側索硬化症 [神] 💬 "Amyotrophic lateral sclerosis", "ALS"	645 trials \| 227 / 290 / 231 / 26 💬	589 drugs [ 163 drugs ]	150 genes \| 225 pathways	9,765人年齢分布💬
3	脊髄性筋萎縮症 [神] 💬 "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"	237 trials \| 106 / 117 / 116 / 28 💬	123 drugs [ 29 drugs ]	51 genes \| 75 pathways	955人年齢分布💬
4	原発性側索硬化症 [神] 💬 "Primary lateral sclerosis", "PLS"	5 trials \| 2 / 2 / 0 / 1 💬	13 drugs [ 6 drugs ]	13 genes \| 25 pathways	146人年齢分布💬
5	進行性核上性麻痺 [神] 💬 "Progressive supranuclear palsy", "PSP"	89 trials \| 45 / 42 / 9 / 6 💬	107 drugs [ 40 drugs ]	65 genes \| 108 pathways	12,830人年齢分布💬
6	パーキンソン病 [神] 💬 "Parkinson disease", "Disease Parkinson's"	2,307 trials \| 810 / 703 / 607 / 290 💬	2,007 drugs [ 349 drugs ]	188 genes \| 199 pathways	143,267人年齢分布💬
7	大脳皮質基底核変性症 [神] 💬 "Corticobasal degeneration", "Corticobasal syndrome", "CBD"	16 trials \| 5 / 3 / 1 / 0 💬	28 drugs [ 13 drugs ]	9 genes \| 38 pathways	4,428人年齢分布💬
8	ハンチントン病 [神] 💬 "Huntington disease", "Huntington chorea"	242 trials \| 111 / 134 / 50 / 13 💬	205 drugs [ 62 drugs ]	85 genes \| 159 pathways	892人年齢分布💬
9	神経有棘赤血球症 [神] 💬 "Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome", "Huntington disease-like 2", "HDL2", "Pantothenate kinase-associated neurodegeneration", "PKAN", "Hallervorden-Spatz syndrome"	-	-	-	36人年齢分布💬
10	シャルコー・マリー・トゥース病 [神] 💬 "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"	41 trials \| 25 / 17 / 24 / 4 💬	46 drugs [ 9 drugs ]	11 genes \| 15 pathways	845人年齢分布💬
11	重症筋無力症 [神] 💬 "Myasthenia gravis", "MG", "Generalized myasthenia gravis", "Generalized MG", "GMG", "Systemic myasthenia gravis", "Systemic MG", "Ocular myasthenia gravis", "Ocular MG", "OMG"	332 trials \| 110 / 106 / 204 / 29 💬	234 drugs [ 81 drugs ]	45 genes \| 127 pathways	26,387人年齢分布💬
12	先天性筋無力症候群 [神] 💬 "Congenital myasthenic syndrome", "End-plate acetylcholine receptor deficiency", "Slow-channel congenital myasthenic syndrome", "Fast-channel congenital myasthenic syndrome", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency", "Congenital myasthenic syndrome with episodic apnoea", "Dok-7 myasthenia", "DOK7 congenital myasthenic syndrome"	5 trials \| 1 / 0 / 0 / 0 💬	7 drugs [ 3 drugs ]	5 genes \| 13 pathways	12人年齢分布💬
13	多発性硬化症／視神経脊髄炎 [神] 💬 "Multiple sclerosis/Neuromyelitis optica", "Multiple sclerosis", "MS", "Neuromyelitis optica", "Neuromyelitis optica spectrum disorder", "NMOSD", "Balo concentric sclerosis", "Baló concentric sclerosis"	3,340 trials \| 996 / 796 / 1256 / 514 💬	2,163 drugs [ 383 drugs ]	241 genes \| 238 pathways	23,105人年齢分布💬
14	慢性炎症性脱髄性多発神経炎／多巣性運動ニューロパチー [神] 💬 "Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "CIDP", "Multifocal motor neuropathy"	175 trials \| 46 / 94 / 76 / 14 💬	161 drugs [ 41 drugs ]	13 genes \| 24 pathways	5,291人年齢分布💬
15	封入体筋炎 [神] 💬 "Inclusion body myositis"	42 trials \| 31 / 19 / 25 / 5 💬	33 drugs [ 11 drugs ]	12 genes \| 123 pathways	847人年齢分布💬
16	クロウ・深瀬症候群 [神] 💬 "Crow-Fukase syndrome", "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome"	13 trials \| 2 / 7 / 2 / 1 💬	14 drugs [ 7 drugs ]	4 genes \| 75 pathways	252人年齢分布💬
17	多系統萎縮症 [神] 💬 "Multiple system atrophy", "MSA-C", "MSA-P", "Olivopontocerebellar atrophy", "OPCA", "Striatonigral degeneration", "Shy-Drager syndrome"	119 trials \| 43 / 40 / 40 / 7 💬	138 drugs [ 44 drugs ]	59 genes \| 111 pathways	10,808人年齢分布💬
18	脊髄小脳変性症（多系統萎縮症を除く。） [神] 💬 "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"	76 trials \| 20 / 46 / 19 / 5 💬	98 drugs [ 31 drugs ]	44 genes \| 65 pathways	26,476人年齢分布💬
19	ライソゾーム病 [代] 💬 "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease type A/B", "Niemann-Pick type A", "NPD-A", "NPA", "Niemann-Pick type B", "NPD-B", "NPB", "Acid sphingomyelinase deficiency", "ASMD", "Niemann-Pick disease type C", "Niemann-Pick type C", "NPD-C", "NPC", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "MLD", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler syndrome", "Hurler-Scheie syndrome", "Scheie syndrome", "Mucopolysaccharidosis type II", "Mucopolysaccharidosis II", "MPS II", "Hunter syndrome", "Mucopolysaccharidosis type III", "Mucopolysaccharidosis III", "MPS III", "Sanfilippo syndrome", "Mucopolysaccharidosis type IV", "Mucopolysaccharidosis IV", "MPS IV", "MPS IVA", "Morquio syndrome", "Morquio A syndrome", "Mucopolysaccharidosis type VI", "Mucopolysaccharidosis VI", "MPS VI", "Maroteaux-Lamy syndrome", "Mucopolysaccharidosis type VII", "Mucopolysaccharidosis VII", "MPS VII", "Sly syndrome", "Mucopolysaccharidosis type IX", "Mucopolysaccharidosis IX", "MPS IX", "Hyaluronidase deficiency", "Sialidosis", "Galactosialidosis", "Mucolipidosis II", "Mucolipidosis type II", "I-cell disease", "Mucolipidosis III", "Mucolipidosis type III", "Alpha-Mannosidosis", "Alpha-Mannosidase Deficiency", "Beta-Mannosidosis", "Beta-Mannosidase Deficiency", "Fucosidosis", "Aspartylglucosaminuria", "Schindler disease", "Kanzaki disease", "Pompe disease", "Acid lipase deficiency", "Wolman disease", "Cholesterol ester storage disease", "Danon disease", "Free sialic acid storage disease", "Infantile sialic acid storage disease", "ISSD", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis"	899 trials \| 549 / 383 / 342 / 126 💬	684 drugs [ 99 drugs ]	51 genes \| 182 pathways	1,672人年齢分布💬
20	副腎白質ジストロフィー [代] 💬 "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)"	61 trials \| 42 / 36 / 28 / 7 💬	90 drugs [ 31 drugs ]	23 genes \| 126 pathways	253人年齢分布💬
21	ミトコンドリア病 [代] 💬 "Mitochondrial disease"	39 trials \| 7 / 21 / 15 / 2 💬	42 drugs [ 32 drugs ]	47 genes \| 67 pathways	1,630人年齢分布💬
22	もやもや病 [神] 💬 "Moyamoya disease", "Occlusive disease in circle of Willis"	17 trials \| 3 / 2 / 1 / 3 💬	22 drugs [ 17 drugs ]	33 genes \| 45 pathways	13,544人年齢分布💬
23	プリオン病 [神] 💬 "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"	4 trials \| 0 / 1 / 0 / 0 💬	5 drugs [ 2 drugs ]	-	464人年齢分布💬
24	亜急性硬化性全脳炎 [神] 💬 "Subacute sclerosing panencephalitis", "SSPE"	-	-	-	58人年齢分布💬
25	進行性多巣性白質脳症 [神] 💬 "Progressive multifocal leukoencephalopathy", "PML", "Leukoencephalopathy, progressive multifocal"	26 trials \| 3 / 8 / 0 / 2 💬	35 drugs [ 22 drugs ]	8 genes \| 37 pathways	77人年齢分布💬
26	HTLV-1関連脊髄症 [神] 💬 "HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy", "HAM"	29 trials \| 10 / 15 / 10 / 0 💬	47 drugs [ 29 drugs ]	34 genes \| 119 pathways	1,016人年齢分布💬
27	特発性基底核石灰化症 [神] 💬 "Idiopathic basal ganglia calcification", "IBGC", "Fahr disease", "Familial idiopathic basal ganglia calcification", "FIBGC", "Primary familial brain calcification", "PFBC"	1 trial \| 0 / 1 / 0 / 0 💬	1 drug [ 1 drug ]	-	123人年齢分布💬
28	全身性アミロイドーシス [代] 💬 "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"	267 trials \| 82 / 116 / 111 / 11 💬	241 drugs [ 77 drugs ]	68 genes \| 180 pathways	5,587人年齢分布💬
29	ウルリッヒ病 [神] 💬 "Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy"	-	-	-	19人年齢分布💬
30	遠位型ミオパチー [神] 💬 "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Distal dysferlinopathy", "Distal myopathy with rimmed vacuoles", "DMRV/GNE myopathy", "Oculopharyngodistal myopathy"	15 trials \| 1 / 5 / 12 / 0 💬	17 drugs [ 3 drugs ]	1 gene \| 1 pathway	315人年齢分布💬
31	ベスレムミオパチー [神] 💬 "Bethlem myopathy", "Beth Rem myopathy"	-	-	-	21人年齢分布💬
32	自己貪食空胞性ミオパチー [神] 💬 "Autophagic vacuolar myopathy", "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA"	1 trial \| 1 / 0 / 0 / 0 💬	1 drug [ - ]	-	9人年齢分布💬
33	シュワルツ・ヤンペル症候群 [神] 💬 "Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "SJS", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Schwartz-Jampel syndrome type 1", "SJS type 1", "Schwartz-Jampel syndrome type 2", "SJS type 2", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome"	-	-	-	1人年齢分布💬
34	神経線維腫症 [皮] 💬 "Neurofibromatosis", "Neurofibromatosis type I", "NF1", "von Recklinghausen disease", "Neurofibromatosis type II", "NF2"	133 trials \| 54 / 85 / 15 / 8 💬	186 drugs [ 67 drugs ]	79 genes \| 190 pathways	4,056人年齢分布💬
35	天疱瘡 [皮] 💬 "Pemphigus", "Pemphigus vulgaris", "Pemphigus foliaceus", "Pemphigus erythematosus", "Herpetiform pemphigus", "Drug-induced pemphigus", "DIP", "Paraneoplastic pemphigus", "PNP"	99 trials \| 44 / 36 / 49 / 7 💬	124 drugs [ 36 drugs ]	23 genes \| 169 pathways	3,176人年齢分布💬
36	表皮水疱症 [皮] 💬 "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"	163 trials \| 117 / 99 / 53 / 16 💬	185 drugs [ 46 drugs ]	50 genes \| 125 pathways	291人年齢分布💬
37	膿疱性乾癬（汎発型） [皮] 💬 "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"	79 trials \| 27 / 30 / 39 / 8 💬	57 drugs [ 21 drugs ]	20 genes \| 102 pathways	2,132人年齢分布💬
38	スティーヴンス・ジョンソン症候群 [皮] 💬 "Stevens-Johnson syndrome", "SJS", "Mucocutaneous ocular syndrome"	17 trials \| 11 / 11 / 4 / 2 💬	29 drugs [ 9 drugs ]	15 genes \| 101 pathways	171人年齢分布💬
39	中毒性表皮壊死症 [皮] 💬 "Toxic epidermal necrolysis", "Toxic epidermal necrosis", "TEN"	13 trials \| 5 / 8 / 2 / 1 💬	19 drugs [ 8 drugs ]	11 genes \| 103 pathways	71人年齢分布💬
40	高安動脈炎 [免] 💬 "Takayasu arteritis", "Aortitis syndrome", "Pulseless disease"	24 trials \| 0 / 5 / 8 / 3 💬	40 drugs [ 18 drugs ]	23 genes \| 110 pathways	4,642人年齢分布💬
41	巨細胞性動脈炎 [免] 💬 "Giant cell arteritis", "Temporal arteritis"	131 trials \| 60 / 42 / 79 / 15 💬	139 drugs [ 36 drugs ]	33 genes \| 125 pathways	2,453人年齢分布💬
42	結節性多発動脈炎 [免] 💬 "Polyarteritis nodosa", "PAN"	15 trials \| 0 / 6 / 6 / 2 💬	26 drugs [ 16 drugs ]	26 genes \| 105 pathways	2,143人年齢分布💬
43	顕微鏡的多発血管炎 [免] 💬 "Microscopic polyangiitis", "MPA"	88 trials \| 61 / 44 / 42 / 21 💬	81 drugs [ 21 drugs ]	15 genes \| 90 pathways	11,078人年齢分布💬
44	多発血管炎性肉芽腫症 [免] 💬 "Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis"	98 trials \| 67 / 40 / 54 / 21 💬	108 drugs [ 28 drugs ]	22 genes \| 81 pathways	3,437人年齢分布💬
45	好酸球性多発血管炎性肉芽腫症 [免] 💬 "Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "AGA", "Churg-Strauss syndrome", "CSS"	31 trials \| 8 / 7 / 16 / 5 💬	44 drugs [ 18 drugs ]	18 genes \| 101 pathways	6,723人年齢分布💬
46	悪性関節リウマチ [免] 💬 "Malignant rheumatoid arthritis", "MRA", "Rheumatoid vasculitis", "RV", "Rheumatoid arthritis", "RA", "Systemic rheumatoid vasculitis", "SRV", "Malignant rheumatoid arthritis with peripheral arteritis"	4,356 trials \| 1358 / 1018 / 1235 / 670 💬	2,567 drugs [ 415 drugs ]	192 genes \| 228 pathways	4,966人年齢分布💬
47	バージャー病 [循] 💬 "Buerger disease", "Thromboangiitis obliterans"	9 trials \| 0 / 3 / 1 / 0 💬	14 drugs [ 7 drugs ]	5 genes \| 16 pathways	1,609人年齢分布💬
48	原発性抗リン脂質抗体症候群 [免] 💬 "Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome", "Primary APS", "PAPS"	5 trials \| 1 / 2 / 1 / 0 💬	6 drugs [ 4 drugs ]	1 gene \| 7 pathways	1,019人年齢分布💬
49	全身性エリテマトーデス [免] 💬 "Systemic lupus erythematosus", "SLE"	993 trials \| 415 / 404 / 286 / 118 💬	702 drugs [ 184 drugs ]	116 genes \| 200 pathways	65,145人年齢分布💬
50	皮膚筋炎／多発性筋炎 [免] 💬 "Dermatomyositis", "Polymyositis"	194 trials \| 54 / 83 / 61 / 17 💬	244 drugs [ 89 drugs ]	50 genes \| 151 pathways	26,046人年齢分布💬
51	全身性強皮症 [免] 💬 "Scleroderma", "Systemic sclerosis", "SSc", "Diffuse cutaneous SSc", "dcSSc", "Limited cutaneous SSc", "lcSSc"	525 trials \| 274 / 260 / 151 / 63 💬	565 drugs [ 148 drugs ]	114 genes \| 217 pathways	27,013人年齢分布💬
52	混合性結合組織病 [免] 💬 "Mixed connective tissue disease"	8 trials \| 0 / 5 / 1 / 0 💬	7 drugs [ 3 drugs ]	1 gene \| 1 pathway	10,099人年齢分布💬
53	シェーグレン症候群 [免] 💬 "Sjogren syndrome", "Sjögren syndrome", "Syndrome Sjogren's", "SS", "Autoimmune exocrinopathy", "Primary Sjogren syndrome", "Primary Sjögren syndrome", "pSS", "Secondary Sjogren syndrome", "Secondary Sjögren syndrome", "sSS"	305 trials \| 82 / 190 / 40 / 34 💬	325 drugs [ 104 drugs ]	58 genes \| 188 pathways	19,290人年齢分布💬
54	成人スチル病 [免] 💬 "Adult still disease", "Adult-onset Stills disease"	2 trials \| 0 / 0 / 0 / 0 💬	1 drug [ 1 drug ]	1 gene \| 12 pathways	4,458人年齢分布💬
55	再発性多発軟骨炎 [免] 💬 "Relapsing polychondritis"	8 trials \| 1 / 4 / 0 / 0 💬	10 drugs [ 9 drugs ]	12 genes \| 101 pathways	993人年齢分布💬
56	ベーチェット病 [免] 💬 "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"	81 trials \| 10 / 20 / 26 / 6 💬	107 drugs [ 30 drugs ]	36 genes \| 116 pathways	15,157人年齢分布💬
57	特発性拡張型心筋症 [循] 💬 "Idiopathic dilated cardiomyopathy"	11 trials \| 3 / 6 / 1 / 3 💬	23 drugs [ 12 drugs ]	9 genes \| 35 pathways	18,234人年齢分布💬
58	肥大型心筋症 [循] 💬 "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"	126 trials \| 21 / 55 / 43 / 14 💬	135 drugs [ 42 drugs ]	46 genes \| 162 pathways	4,318人年齢分布💬
59	拘束型心筋症 [循] 💬 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy"	-	-	-	60人年齢分布💬
60	再生不良性貧血 [血] 💬 "Aplastic anemia", "Idiopathic aplastic anemia", "Secondary aplastic anemia", "Special-type aplastic anemia", "Congenital aplastic anemia"	245 trials \| 53 / 143 / 30 / 21 💬	318 drugs [ 86 drugs ]	44 genes \| 166 pathways	8,302人年齢分布💬
61	自己免疫性溶血性貧血 [血] 💬 "Autoimmune hemolytic anemia", "AIHA", "Warm AIHA", "WAIHA", "Cold agglutinin disease", "CAD", "Paroxysmal cold hemoglobinuria", "Mixed AIHA", "MAIHA", "Evans syndrome"	146 trials \| 29 / 69 / 68 / 6 💬	131 drugs [ 59 drugs ]	28 genes \| 158 pathways	1,278人年齢分布💬
62	発作性夜間ヘモグロビン尿症 [血] 💬 "Paroxysmal nocturnal hemoglobinuria", "PNH", "Classic paroxysmal nocturnal hemoglobinuria", "Classic PNH", "Paroxysmal nocturnal hemoglobinuria, bone marrow failure type", "Paroxysmal nocturnal hemoglobinuria, mixed type"	292 trials \| 107 / 106 / 174 / 23 💬	151 drugs [ 49 drugs ]	22 genes \| 108 pathways	1,035人年齢分布💬
63	特発性血小板減少性紫斑病 [血] 💬 "Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia"	391 trials \| 148 / 85 / 191 / 61 💬	235 drugs [ 50 drugs ]	49 genes \| 139 pathways	16,599人年齢分布💬
64	血栓性血小板減少性紫斑病 [血] 💬 "Thrombotic thrombocytopenic purpura", "TTP", "Upshaw-Schulman syndrome", "USS", "Acquired TTP", "Congenital TTP"	92 trials \| 29 / 31 / 50 / 8 💬	85 drugs [ 21 drugs ]	18 genes \| 76 pathways	385人年齢分布💬
65	原発性免疫不全症候群 [血] 💬 "Primary immunodeficiency", "X-linked severe combined immunodeficiency", "X-SCID", "Reticular dysgenesis", "Adenosine deaminase deficiency", "Omenn syndrome", "Purine nucleoside phosphorylase deficiency", "CD8 deficiency", "ZAP-70 deficiency", "MHC class I deficiency", "MHC class II deficiency", "Combined immunodeficiency", "Wiskott-Aldrich syndrome", "WAS", "Ataxia telangiectasia", "Nijmegen breakage syndrome", "Bloom syndrome", "Immunodeficiency, centromere region instability, facial anomalies syndrome", "ICF syndrome", "PMS2 deficiency", "Radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties syndrome", "RIDDLE syndrome", "Schimke syndrome", "Netherton syndrome", "Thymic hypoplasia", "DiGeorge syndrome", "22q11.2 deletion syndrome", "Hyper-IgE syndrome", "Hepatic venoocclusive immunodeficiency", "Immunodeficiency with central hepatic vein atresia", "Dyskeratosis congenita", "X-linked agammaglobulinaemia", "Common variable immunodeficiency", "Hyper-IgM syndrome", "Isolated IgG subclass deficiency", "Selective IgA deficiency", "Specific antibody production deficiency", "Infant transient hypogammaglobulinemia", "Chédiak-Higashi syndrome", "Chediak-Higashi syndrome", "X-linked lymphoproliferative syndrome", "SAP deficiency", "SH2D1A/SLAM-associated protein deficiency", "XIAP deficiency", "X-linked inhibitor of apoptosis deficiency", "Autoimmune lymphoproliferative syndrome", "ALPS", "Familial hemophagocytic syndrome", "Perforin deficiency", "Munc13-4 deficiency", "Syntaxin 11 deficiency", "Munc18-2 deficiency", "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "APECED", "Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome", "IPEX syndrome", "CD25 deficiency", "ITCH deficiency", "Primary phagocytic dysfunction", "Severe congenital neutropenia", "Cyclic neutropenia", "Hermanskyi-Pudlak syndrome type 2", "Hermanskyi-Pudlak syndrome 2", "Griscelli syndrome type 2", "Griscelli syndrome 2", "p14 deficiency", "Warts, hypogammaglobulinemia, infections, myelokathexis syndrome", "WHIM syndrome", "Glycogen storage disease type Ib", "Leukocyte adhesion deficiency", "Shwachman-Diamond syndrome", "Chronic granulomatous disease", "Myeloperoxidase deficiency", "Mendelian susceptibility to mycobacterial disease", "MSMD", "Anhidrotic ectodermal dysplasia with immunodeficiency", "EDA-ID", "Interleukin-1 receptor-associated kinase-4 deficiency", "IRAK4 deficiency", "MyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "C1r deficiency", "C1s deficiency", "C2 deficiency", "C3 deficiency", "C4 deficiency", "C5 deficiency", "C6 deficiency", "C7 deficiency", "C8 deficiency", "C9 deficiency", "Factor D deficiency", "Properdin deficiency", "Factor I deficiency", "Factor H deficiency", "MASP1 deficiency", "3MC syndrome", "Mannose-binding protein-associated serine protease 2 deficiency", "MASP2 deficiency", "Immunodeficiency associated with FCN3 mutation", "FCN3", "Hereditary angioedema type 1", "Hereditary angioedema type I", "C1 inhibitor deficiency type 1", "C1 inhibitor deficiency type I", "Hereditary angioedema type 2", "Hereditary angioedema type II", "C1 inhibitor deficiency type 2", "C1 inhibitor deficiency type II", "Hereditary angioedema type 3", "Hereditary angioedema type III", "C1 inhibitor deficiency type 3", "C1 inhibitor deficiency type III"	500 trials \| 211 / 205 / 173 / 59 💬	614 drugs [ 119 drugs ]	92 genes \| 217 pathways	2,062人年齢分布💬
66	IgＡ腎症 [腎] 💬 "IgA nephropathy", "IgA nephritis", "Berger disease", "IgA-IgG nephropathy"	275 trials \| 30 / 87 / 97 / 30 💬	258 drugs [ 82 drugs ]	36 genes \| 140 pathways	13,354人年齢分布💬
67	多発性嚢胞腎 [腎] 💬 "Polycystic kidney disease", "PKD", "PCKD", "Polycystic kidney", "Autosomal dominant PKD", "ADPKD", "Autosomal recessive PKD", "ARPKD"	221 trials \| 97 / 78 / 110 / 29 💬	212 drugs [ 55 drugs ]	40 genes \| 151 pathways	12,790人年齢分布💬
68	黄色靱帯骨化症 [骨] 💬 "Ossification of the ligamentum flavum", "Ossification of ligamentum flavum", "OLF"	2 trials \| 0 / 0 / 0 / 0 💬	4 drugs [ 4 drugs ]	1 gene \| 3 pathways	6,092人年齢分布💬
69	後縦靱帯骨化症 [骨] 💬 "Ossification of posterior longitudinal ligament"	2 trials \| 0 / 0 / 0 / 0 💬	2 drugs [ 3 drugs ]	-	31,571人年齢分布💬
70	広範脊柱管狭窄症 [骨] 💬 "Spinal stenosis", "Extensive spinal canal stenosis"	95 trials \| 14 / 13 / 8 / 29 💬	169 drugs [ 61 drugs ]	68 genes \| 90 pathways	4,874人年齢分布💬
71	特発性大腿骨頭壊死症 [骨] 💬 "Idiopathic osteonecrosis of the femoral head", "Idiopathic femoral head necrosis"	2 trials \| 0 / 1 / 0 / 0 💬	3 drugs [ 3 drugs ]	3 genes \| 7 pathways	19,256人年齢分布💬
72	下垂体性ADH分泌異常症 [内] 💬 "Pituitary ADH secretion disorder", "Inappropriate antidiuretic hormone secretion", "Syndrome of inappropriate secretion of antidiuretic hormone", "Inappropriate ADH syndrome", "Syndrome of inappropriate ADH", "Central diabetes insipidus", "Syndrome of inappropriate secretion of ADH", "SIADH"	41 trials \| 2 / 8 / 16 / 3 💬	27 drugs [ 8 drugs ]	7 genes \| 10 pathways	3,869人年齢分布💬
73	下垂体性TSH分泌亢進症 [内] 💬 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism"	1 trial \| 0 / 0 / 1 / 0 💬	3 drugs [ 2 drugs ]	-	200人年齢分布💬
74	下垂体性PRL分泌亢進症 [内] 💬 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma"	19 trials \| 3 / 6 / 1 / 1 💬	28 drugs [ 10 drugs ]	14 genes \| 65 pathways	2,206人年齢分布💬
75	クッシング病 [内] 💬 "Cushing disease", "Cushing"	205 trials \| 126 / 86 / 92 / 38 💬	176 drugs [ 45 drugs ]	61 genes \| 127 pathways	960人年齢分布💬
76	下垂体性ゴナドトロピン分泌亢進症 [内] 💬 "Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma"	29 trials \| 0 / 0 / 10 / 8 💬	44 drugs [ 14 drugs ]	5 genes \| 15 pathways	37人年齢分布💬
77	下垂体性成長ホルモン分泌亢進症 [内] 💬 "Growth hormone secreting pituitary adenoma", "Pituitary growth hormone secretion hyperthyroidism"	1 trial \| 0 / 0 / 0 / 0 💬	1 drug [ 1 drug ]	2 genes \| 20 pathways	4,348人年齢分布💬
78	下垂体前葉機能低下症 [内] 💬 "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"	492 trials \| 130 / 105 / 159 / 65 💬	341 drugs [ 47 drugs ]	45 genes \| 100 pathways	19,693人年齢分布💬
79	家族性高コレステロール血症（ホモ接合体） [代] 💬 "Homozygous familial hypercholesterolemia"	145 trials \| 51 / 42 / 94 / 10 💬	114 drugs [ 26 drugs ]	8 genes \| 17 pathways	398人年齢分布💬
80	甲状腺ホルモン不応症 [内] 💬 "Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome", "RTH"	1 trial \| 1 / 0 / 0 / 0 💬	5 drugs [ 3 drugs ]	3 genes \| 3 pathways	46人年齢分布💬
81	先天性副腎皮質酵素欠損症 [内] 💬 "Congenital adrenal hyperplasia", "CAH", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "21-OHD", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "P450 oxidoreductase deficiency", "Aldosterone synthase deficiency"	87 trials \| 30 / 40 / 39 / 6 💬	87 drugs [ 23 drugs ]	12 genes \| 68 pathways	1,014人年齢分布💬
82	先天性副腎低形成症 [内] 💬 "Congenital adrenal hypoplasia", "X-linked congenital adrenal hypoplasia", "DAX-1 deficiency", "Congenital adrenal hypoplasia, autosomal recessive form", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome"	-	-	-	55人年齢分布💬
83	アジソン病 [内] 💬 "Addison disease", "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome"	20 trials \| 6 / 5 / 3 / 6 💬	39 drugs [ 13 drugs ]	6 genes \| 18 pathways	346人年齢分布💬
84	サルコイドーシス [呼] 💬 "Sarcoidosis"	149 trials \| 52 / 70 / 31 / 25 💬	202 drugs [ 78 drugs ]	66 genes \| 169 pathways	15,627人年齢分布💬
85	特発性間質性肺炎 [呼] 💬 "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"	627 trials \| 216 / 257 / 167 / 59 💬	443 drugs [ 120 drugs ]	99 genes \| 212 pathways	18,399人年齢分布💬
86	肺動脈性肺高血圧症 [呼] 💬 "Pulmonary arterial hypertension", "PAH", "IPAH", "HPAH", "Eisenmenger syndrome"	1,205 trials \| 404 / 309 / 485 / 170 💬	684 drugs [ 124 drugs ]	100 genes \| 193 pathways	4,529人年齢分布💬
87	肺静脈閉塞症／肺毛細血管腫症 [呼] 💬 "Pulmonary veno-occlusive disease", "Pulmonary capillary hemangiomatosis", "PVOD", "PCH"	3 trials \| 1 / 1 / 0 / 0 💬	4 drugs [ 3 drugs ]	4 genes \| 45 pathways	25人年齢分布💬
88	慢性血栓塞栓性肺高血圧症 [呼] 💬 "Chronic thromboembolic pulmonary hypertension", "CTEPH", "Idiopathic chronic pulmonary thromboembolism"	157 trials \| 77 / 51 / 70 / 18 💬	107 drugs [ 22 drugs ]	14 genes \| 54 pathways	5,230人年齢分布💬
89	リンパ脈管筋腫症 [呼] 💬 "Lymphangioleiomyomatosis", "LAM", "Sporadic lymphangioleiomyomatosis", "Sporadic LAM", "Lymphangioleiomyomatosis with tuberous sclerosis", "TSC-LAM"	38 trials \| 14 / 18 / 8 / 2 💬	38 drugs [ 15 drugs ]	18 genes \| 118 pathways	928人年齢分布💬
90	網膜色素変性症 [視] 💬 "Retinitis pigmentosa", "Rod dystrophy", "Cone-rod dystrophy", "Rod-Cone Dystrophy"	147 trials \| 99 / 76 / 50 / 9 💬	176 drugs [ 43 drugs ]	49 genes \| 110 pathways	21,263人年齢分布💬
91	バッド・キアリ症候群 [消] 💬 "Budd-Chiari syndrome", "BCS", "Primary Budd-Chiari syndrome", "Secondary Budd-Chiari syndrome"	4 trials \| 0 / 0 / 0 / 1 💬	5 drugs [ 4 drugs ]	4 genes \| 14 pathways	211人年齢分布💬
92	特発性門脈圧亢進症 [消] 💬 "Idiopathic portal hypertension", "Banti syndrome"	-	-	-	313人年齢分布💬
93	原発性胆汁性胆管炎 [消] 💬 "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"	298 trials \| 148 / 136 / 110 / 64 💬	252 drugs [ 59 drugs ]	35 genes \| 115 pathways	16,625人年齢分布💬
94	原発性硬化性胆管炎 [消] 💬 "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"	148 trials \| 68 / 66 / 51 / 10 💬	118 drugs [ 39 drugs ]	18 genes \| 141 pathways	1,106人年齢分布💬
95	自己免疫性肝炎 [消] 💬 "Autoimmune hepatitis"	52 trials \| 11 / 25 / 11 / 11 💬	68 drugs [ 27 drugs ]	18 genes \| 111 pathways	7,081人年齢分布💬
96	クローン病 [消] 💬 "Crohn disease", "Terminal ileitis"	2,442 trials \| 898 / 766 / 1004 / 332 💬	1,278 drugs [ 248 drugs ]	142 genes \| 209 pathways	50,184人年齢分布💬
97	潰瘍性大腸炎 [消] 💬 "Ulcerative colitis"	2,630 trials \| 943 / 957 / 1089 / 298 💬	1,459 drugs [ 265 drugs ]	144 genes \| 202 pathways	141,387人年齢分布💬
98	好酸球性消化管疾患 [消] 💬 "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"	172 trials \| 48 / 64 / 90 / 13 💬	149 drugs [ 39 drugs ]	38 genes \| 135 pathways	1,280人年齢分布💬
99	慢性特発性偽性腸閉塞症 [消] 💬 "Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction", "Chronic Idiopathic Intestinal Pseudo-Obstruction", "CIIP"	4 trials \| 0 / 4 / 0 / 0 💬	9 drugs [ 2 drugs ]	1 gene \| 4 pathways	182人年齢分布💬
100	巨大膀胱短小結腸腸管蠕動不全症 [消] 💬 "Megacystis microcolon intestinal hypoperistalsis syndrome", "MMIHS", "Huge bladder short and small colon intestinal peristalsis deficiency"	-	-	-	2人年齢分布💬
101	腸管神経節細胞僅少症 [消] 💬 "Congenital isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease"	-	-	-	16人年齢分布💬
102	ルビンシュタイン・テイビ症候群 [染] 💬 "Rubinstein-Taybi syndrome", "RSTS", "Histone acetylation disorder"	3 trials \| 0 / 2 / 0 / 0 💬	5 drugs [ 1 drug ]	7 genes \| 17 pathways	7人年齢分布💬
103	CFC症候群 [染] 💬 "Cardio-facio-cutaneous syndrome", "CFC syndrome"	-	-	-	8人年齢分布💬
104	コステロ症候群 [染] 💬 "Costello syndrome"	-	-	-	9人年齢分布💬
105	チャージ症候群 [染] 💬 "CHARGE syndrome"	-	-	-	34人年齢分布💬
106	クリオピリン関連周期熱症候群 [免] 💬 "Cryopyrin-associated periodic syndrome", "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "MWS", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID"	42 trials \| 29 / 14 / 13 / 5 💬	24 drugs [ 4 drugs ]	4 genes \| 48 pathways	88人年齢分布💬
107	若年性特発性関節炎 [免] 💬 "Juvenile idiopathic arthritis", "JIA", "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis", "sJIA", "Joint-type juvenile idiopathic arthritis", "Joint-type JIA"	447 trials \| 181 / 82 / 206 / 69 💬	297 drugs [ 57 drugs ]	52 genes \| 146 pathways	1,060人年齢分布💬
108	TNF受容体関連周期性症候群 [免] 💬 "TNF receptor-associated periodic syndrome"	4 trials \| 5 / 1 / 2 / 1 💬	7 drugs [ 1 drug ]	1 gene \| 44 pathways	35人年齢分布💬
109	非典型溶血性尿毒症症候群 [腎] 💬 "Atypical hemolytic uremic syndrome", "aHUS"	114 trials \| 75 / 41 / 54 / 18 💬	36 drugs [ 7 drugs ]	3 genes \| 11 pathways	81人年齢分布💬
110	ブラウ症候群 [免] 💬 "Blau syndrome", "Early-onset sarcoidosis", "Systemic granulomatous diseases", "Systemic inflammatory granulomatous disease", "Juvenile onset sarcoidosis", "Early-onset childhood sarcoidosis", "Childhood sarcoidosis", "Early onset sarcoidosis", "EOS"	-	-	-	21人年齢分布💬
111	先天性ミオパチー [神] 💬 "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"	10 trials \| 11 / 8 / 1 / 2 💬	17 drugs [ 5 drugs ]	1 gene \| 9 pathways	377人年齢分布💬
112	マリネスコ・シェーグレン症候群 [神] 💬 "Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts"	-	-	-	4人年齢分布💬
113	筋ジストロフィー [神] 💬 "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"	646 trials \| 401 / 281 / 275 / 65 💬	471 drugs [ 105 drugs ]	59 genes \| 170 pathways	5,444人年齢分布💬
114	非ジストロフィー性ミオトニー症候群 [神] 💬 "Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Thomsen disease", "Autosomal-dominant myotonia congenita", "Becker disease", "Autosomal-recessive myotonia congenita", "Paramyotonia congenita", "Sodium channel myotonia"	13 trials \| 1 / 3 / 5 / 0 💬	19 drugs [ 5 drugs ]	18 genes \| 10 pathways	29人年齢分布💬
115	遺伝性周期性四肢麻痺 [神] 💬 "Hereditary periodic paralysis", "Hereditary Hypokalemic Periodic Paralysis", "Andersen-Tawil syndrome", "Hereditary Hyperkalemic Periodic Paralysis"	1 trial \| 1 / 0 / 0 / 0 💬	2 drugs [ 2 drugs ]	13 genes \| 7 pathways	66人年齢分布💬
116	アトピー性脊髄炎 [神] 💬 "Atopic myelitis", "Idiopathic eosinophilic myelitis"	-	-	-	54人年齢分布💬
117	脊髄空洞症 [神] 💬 "Syringomyelia", "Symptomatic syringomyelia", "Asymptomatic syringomyelia", "Syringomyelia with Chiari I malformation", "Syringomyelia with Chiari II malformation", "Syringomyelia without Chiari malformation", "Secondary syringomyelia", "Idiopathic syringomyelia"	3 trials \| 0 / 2 / 0 / 0 💬	5 drugs [ 1 drug ]	-	623人年齢分布💬
118	脊髄髄膜瘤 [神] 💬 "Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele"	5 trials \| 1 / 1 / 0 / 1 💬	7 drugs [ 4 drugs ]	2 genes \| 10 pathways	137人年齢分布💬
119	アイザックス症候群 [神] 💬 "Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis"	-	-	-	117人年齢分布💬
120	遺伝性ジストニア [神] 💬 "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"	26 trials \| 11 / 3 / 18 / 3 💬	19 drugs [ 3 drugs ]	2 genes \| 2 pathways	129人年齢分布💬
121	神経フェリチン症 [神] 💬 "Neuroferritinopathy"	-	-	-	2人年齢分布💬
122	脳表ヘモジデリン沈着症 [神] 💬 "Superficial siderosis", "SS", "Classical superficial siderosis", "Classical SS", "Brain table hemosiderosis"	3 trials \| 0 / 0 / 0 / 0 💬	3 drugs [ 2 drugs ]	-	227人年齢分布💬
123	禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 [神] 💬 "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy", "CARASIL", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy"	-	-	-	6人年齢分布💬
124	皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 [神] 💬 "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "CADASIL", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease"	12 trials \| 10 / 7 / 2 / 2 💬	14 drugs [ 5 drugs ]	3 genes \| 11 pathways	223人年齢分布💬
125	神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症 [神] 💬 "Hereditary diffuse leukoencephalopathy with spheroid", "HDLS", "Hereditary diffuse leukoencephalopathy"	1 trial \| 0 / 1 / 0 / 0 💬	9 drugs [ 1 drug ]	-	68人年齢分布💬
126	ペリー症候群 [神] 💬 "Perry syndrome"	-	-	-	3人年齢分布💬
127	前頭側頭葉変性症 [神] 💬 "Frontotemporal lobar degeneration", "Frontotemporal dementia", "Semantic dementia"	90 trials \| 32 / 36 / 31 / 8 💬	87 drugs [ 30 drugs ]	39 genes \| 88 pathways	1,352人年齢分布💬
128	ビッカースタッフ脳幹脳炎 [神] 💬 "Bickerstaff brainstem encephalitis"	-	-	-	78人年齢分布💬
129	痙攣重積型（二相性）急性脳症 [神] 💬 "Acute encephalopathy with biphasic seizures and late reduced diffusion", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy"	1 trial \| 0 / 1 / 0 / 0 💬	1 drug [ 1 drug ]	-	47人年齢分布💬
130	先天性無痛無汗症 [神] 💬 "Congenital insensitivity to pain with anhydrosis", "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5"	-	-	-	45人年齢分布💬
131	アレキサンダー病 [神] 💬 "Alexander disease", "ALXDRD", "AxD", "Alexander Disease type 1", "ALXDRD1", "AxD1", "Alexander Disease type 2", "ALXDRD2", "AxD2", "Alexander disease type 3", "ALXDRD3", "AxD3"	4 trials \| 3 / 3 / 4 / 0 💬	4 drugs [ 1 drug ]	-	50人年齢分布💬
132	先天性核上性球麻痺 [神] 💬 "Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome"	-	-	-	7人年齢分布💬
133	メビウス症候群 [神] 💬 "Moebius syndrome", "Mobius syndrome", "Möbius syndrome"	-	-	-	14人年齢分布💬
134	中隔視神経形成異常症／ドモルシア症候群 [視] 💬 "Septo-optic dysplasia", "De Morsier syndrome"	1 trial \| 0 / 0 / 0 / 1 💬	1 drug [ - ]	-	14人年齢分布💬
135	アイカルディ症候群 [神] 💬 "Aicardi syndrome"	1 trial \| 0 / 1 / 0 / 0 💬	9 drugs [ 3 drugs ]	-	13人年齢分布💬
136	片側巨脳症 [神] 💬 "Hemimegalencephaly", "Unilateral megalencephaly"	-	-	-	23人年齢分布💬
137	限局性皮質異形成 [神] 💬 "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"	9 trials \| 0 / 6 / 0 / 0 💬	5 drugs [ 3 drugs ]	1 gene \| 51 pathways	77人年齢分布💬
138	神経細胞移動異常症 [神] 💬 "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"	1 trial \| 0 / 1 / 0 / 0 💬	2 drugs [ 1 drug ]	1 gene \| 106 pathways	76人年齢分布💬
139	先天性大脳白質形成不全症 [神] 💬 "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"	10 trials \| 1 / 7 / 0 / 0 💬	7 drugs [ 2 drugs ]	2 genes \| 2 pathways	44人年齢分布💬
140	ドラベ症候群 [神] 💬 "Dorabe syndrome", "Dravet syndrome"	116 trials \| 46 / 25 / 80 / 11 💬	65 drugs [ 17 drugs ]	50 genes \| 64 pathways	84人年齢分布💬
141	海馬硬化を伴う内側側頭葉てんかん [神] 💬 "Mesial temporal lobe epilepsy with hippocampal sclerosis", "Medial temporal lobe epilepsy with hippocampal sclerosis", "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "Medial temporal lobe epilepsy"	1 trial \| 1 / 1 / 0 / 0 💬	1 drug [ - ]	-	72人年齢分布💬
142	ミオクロニー欠神てんかん [神] 💬 "Myoclonic absence epilepsy"	-	-	-	4人年齢分布💬
143	ミオクロニー脱力発作を伴うてんかん [神] 💬 "Epilepsy with myoclonic-atonic seizure", "Epilepsy with myoclonic cataplexy"	-	-	-	19人年齢分布💬
144	レノックス・ガストー症候群 [神] 💬 "Lennox-Gastaut syndrome"	111 trials \| 35 / 17 / 79 / 8 💬	72 drugs [ 14 drugs ]	49 genes \| 61 pathways	348人年齢分布💬
145	ウエスト症候群 [神] 💬 "West syndrome", "Infantile spasm"	43 trials \| 16 / 15 / 18 / 9 💬	52 drugs [ 15 drugs ]	28 genes \| 26 pathways	290人年齢分布💬
146	大田原症候群 [神] 💬 "Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst"	-	-	-	21人年齢分布💬
147	早期ミオクロニー脳症 [神] 💬 "Early myoclonic encephalopathy"	-	-	-	9人年齢分布💬
148	遊走性焦点発作を伴う乳児てんかん [神] 💬 "Epilepsy of infancy with migrating focal seizure", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy"	-	-	-	18人年齢分布💬
149	片側痙攣・片麻痺・てんかん症候群 [神] 💬 "Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome"	25 trials \| 3 / 4 / 8 / 3 💬	35 drugs [ 13 drugs ]	16 genes \| 22 pathways	33人年齢分布💬
150	環状20番染色体症候群 [神] 💬 "Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome"	-	-	-	12人年齢分布💬
151	ラスムッセン脳炎 [神] 💬 "Rasmussen encephalitis"	1 trial \| 0 / 1 / 1 / 0 💬	2 drugs [ 1 drug ]	5 genes \| 33 pathways	48人年齢分布💬
152	ＰＣＤＨ19関連症候群 [神] 💬 "PCDH19 related syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy"	10 trials \| 5 / 5 / 5 / 1 💬	7 drugs [ 1 drug ]	16 genes \| 7 pathways	12人年齢分布💬
153	難治頻回部分発作重積型急性脳炎 [神] 💬 "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"	-	-	-	65人年齢分布💬
154	徐波睡眠期持続性棘徐波を示すてんかん性脳症 [神] 💬 "Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep"	7 trials \| 0 / 7 / 0 / 0 💬	4 drugs [ 3 drugs ]	13 genes \| 7 pathways	21人年齢分布💬
155	ランドウ・クレフナー症候群 [神] 💬 "Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome"	1 trial \| 0 / 1 / 1 / 0 💬	2 drugs [ 2 drugs ]	29 genes \| 14 pathways	4人年齢分布💬
156	レット症候群 [神] 💬 "Rett syndrome", "Typical Rett syndrome", "Atypical Rett syndrome"	44 trials \| 4 / 24 / 16 / 0 💬	61 drugs [ 23 drugs ]	57 genes \| 83 pathways	109人年齢分布💬
157	スタージ・ウェーバー症候群 [神] 💬 "Sturge-Weber syndrome", "Síndrome de Sturge-Weber"	10 trials \| 3 / 6 / 1 / 1 💬	13 drugs [ 4 drugs ]	5 genes \| 63 pathways	75人年齢分布💬
158	結節性硬化症 [神] 💬 "Tuberous sclerosis", "Tuberous sclerosis complex"	112 trials \| 49 / 40 / 55 / 17 💬	71 drugs [ 19 drugs ]	35 genes \| 118 pathways	1,017人年齢分布💬
159	色素性乾皮症 [皮] 💬 "Xeroderma pigmentosum", "XP", "XP-A", "XP-B", "XP-C", "XP-D", "XP-E", "XP-F", "XP-G", "XP-V"	11 trials \| 1 / 8 / 1 / 0 💬	17 drugs [ 5 drugs ]	5 genes \| 15 pathways	82人年齢分布💬
160	先天性魚鱗癬 [皮] 💬 "Congenital ichthyosis", "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Superficial epidermolytic ichthyosis", "Harlequin ichthyosis", "Autosomal recessive congenital ichthyosis", "Congenital Ichthyosiform Erythroderma", "Foliate ichthyosis", "Ichthyosis syndrome", "Netherton syndrome", "Sjogren-Larsson syndrome", "Sjögren-Larsson syndrome", "Keratitis-ichtyosis-deafness syndrome", "Dorfman-Chanarin syndrome", "Neutral lipid storage disease", "NLSD", "Multiple sulfatase deficiency", "Austin disease", "Recessive X-linked ichthyosis", "RXLI", "X-linked recessive ichthyosis", "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "IBID", "Trichothiodystrophy", "Follicular ichthyosis", "Congenital hemidysplasia, ichthyosiform erythroderma or nevus, and limb defects syndrome", "CHILD syndrome", "Conradi-Hunermann-Happle syndrome", "Conradi-Hünermann-Happle syndrome", "CHHS"	42 trials \| 25 / 21 / 11 / 5 💬	71 drugs [ 21 drugs ]	18 genes \| 112 pathways	100人年齢分布💬
161	家族性良性慢性天疱瘡 [皮] 💬 "Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease"	5 trials \| 2 / 2 / 0 / 0 💬	9 drugs [ 4 drugs ]	2 genes \| 24 pathways	63人年齢分布💬
162	類天疱瘡（後天性表皮水疱症を含む。） [皮] 💬 "Pemphigoid", "Bullous pemphigoid", "BP", "Epidermolysis bullosa acquisita", "Mucous membrane pemphigoid", "MMP", "Cicatricial pemphigoid"	90 trials \| 24 / 43 / 30 / 8 💬	122 drugs [ 47 drugs ]	34 genes \| 144 pathways	3,850人年齢分布💬
163	特発性後天性全身性無汗症 [皮] 💬 "Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure"	-	-	-	636人年齢分布💬
164	眼皮膚白皮症 [視] 💬 "Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Chédiak-Higashi syndrome", "Griscelli syndrome", "Non-syndromic oculocutaneous albinism"	15 trials \| 3 / 9 / 1 / 0 💬	54 drugs [ 34 drugs ]	35 genes \| 141 pathways	28人年齢分布💬
165	肥厚性皮膚骨膜症 [染] 💬 "Pachydermoperiostosis", "PDP", "Early type pachydermoperiostosis", "Early type PDP", "Incomplete type pachydermoperiostosis", "Incomplete type PDP", "Complete type pachydermoperiostosis", "Complete type PDP"	-	-	-	19人年齢分布💬
166	弾性線維性仮性黄色腫 [皮] 💬 "Pseudoxanthoma elasticum", "PXE"	16 trials \| 3 / 13 / 2 / 1 💬	27 drugs [ 5 drugs ]	5 genes \| 28 pathways	132人年齢分布💬
167	マルファン症候群 [循] 💬 "Marfan syndrome"	21 trials \| 15 / 6 / 12 / 4 💬	40 drugs [ 11 drugs ]	10 genes \| 50 pathways	1,173人年齢分布💬
168	エーラス・ダンロス症候群 [染] 💬 "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"	13 trials \| 1 / 2 / 5 / 3 💬	21 drugs [ 11 drugs ]	11 genes \| 103 pathways	217人年齢分布💬
169	メンケス病 [代] 💬 "Menkes disease"	6 trials \| 2 / 2 / 1 / 0 💬	6 drugs [ 4 drugs ]	9 genes \| 14 pathways	1人年齢分布💬
170	オクシピタル・ホーン症候群 [染] 💬 "Occipital horn syndrome"	2 trials \| 1 / 1 / 1 / 0 💬	4 drugs [ 3 drugs ]	9 genes \| 14 pathways	2人年齢分布💬
171	ウィルソン病 [代] 💬 "Wilson disease", "WD"	79 trials \| 42 / 24 / 32 / 15 💬	77 drugs [ 17 drugs ]	6 genes \| 30 pathways	735人年齢分布💬
172	低ホスファターゼ症 [骨] 💬 "Hypophosphatasia"	34 trials \| 13 / 20 / 4 / 5 💬	17 drugs [ 4 drugs ]	3 genes \| 6 pathways	40人年齢分布💬
173	ＶＡＴＥＲ症候群 [染] 💬 "VATER syndrome", "VATER association", "VACTERL association"	-	-	-	14人年齢分布💬
174	那須・ハコラ病 [染] 💬 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL"	-	-	-	6人年齢分布💬
175	ウィーバー症候群 [染] 💬 "Weaver syndrome"	-	-	-	-
176	コフィン・ローリー症候群 [染] 💬 "Coffin-Lowry syndrome"	-	-	-	5人年齢分布💬
177	ジュベール症候群関連疾患 [神] 💬 "Joubert syndrome related disorder", "Joubert syndrome and related disorder", "Joubert syndrome", "JSRD", "Arima syndrome", "Senior-Loken syndrome", "Senior-Løken syndrome", "COACH syndrome", "Orofaciodigital syndrome"	1 trial \| 0 / 0 / 0 / 0 💬	1 drug [ - ]	-	16人年齢分布💬
178	モワット・ウィルソン症候群 [染] 💬 "Mowat-Wilson syndrome"	-	-	-	14人年齢分布💬
179	ウィリアムズ症候群 [循] 💬 "Williams syndrome"	5 trials \| 0 / 0 / 0 / 1 💬	14 drugs [ 7 drugs ]	8 genes \| 32 pathways	56人年齢分布💬
180	ＡＴＲ−Ｘ症候群 [染] 💬 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome"	1 trial \| 0 / 1 / 0 / 0 💬	3 drugs [ 2 drugs ]	-	6人年齢分布💬
181	クルーゾン症候群 [聴] 💬 "Crouzon syndrome"	-	-	-	20人年齢分布💬
182	アペール症候群 [聴] 💬 "Apert syndrome"	-	-	-	10人年齢分布💬
183	ファイファー症候群 [聴] 💬 "Pfeiffer syndrome", "Pfeiffer syndrome type 1", "Pfeiffer syndrome type 2", "Pfeiffer syndrome type 3"	-	-	-	5人年齢分布💬
184	アントレー・ビクスラー症候群 [聴] 💬 "Antley-Bixler syndrome"	-	-	-	3人年齢分布💬
185	コフィン・シリス症候群 [染] 💬 "Coffin-Siris syndrome"	-	-	-	4人年齢分布💬
186	ロスムンド・トムソン症候群 [染] 💬 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome"	-	-	-	3人年齢分布💬
187	歌舞伎症候群 [染] 💬 "Kabuki syndrome"	4 trials \| 1 / 0 / 0 / 0 💬	9 drugs [ 2 drugs ]	2 genes \| 11 pathways	19人年齢分布💬
188	多脾症候群 [循] 💬 "Polysplenia syndrome"	-	-	-	63人年齢分布💬
189	無脾症候群 [循] 💬 "Asplenia syndrome"	-	-	-	91人年齢分布💬
190	鰓耳腎症候群 [聴] 💬 "Branchio-oto-renal syndrome", "BOR syndrome"	-	-	-	7人年齢分布💬
191	ウェルナー症候群 [内] 💬 "Werner syndrome"	3 trials \| 2 / 1 / 0 / 0 💬	4 drugs [ 3 drugs ]	-	100人年齢分布💬
192	コケイン症候群 [染] 💬 "Cockayne syndrome", "CS"	4 trials \| 1 / 3 / 0 / 0 💬	7 drugs [ 3 drugs ]	1 gene \| 51 pathways	6人年齢分布💬
193	プラダー・ウィリ症候群 [内] 💬 "Prader-Willi syndrome"	113 trials \| 27 / 42 / 50 / 13 💬	111 drugs [ 26 drugs ]	48 genes \| 102 pathways	175人年齢分布💬
194	ソトス症候群 [染] 💬 "Sotos syndrome"	-	-	-	23人年齢分布💬
195	ヌーナン症候群 [染] 💬 "Noonan syndrome"	25 trials \| 0 / 3 / 16 / 0 💬	23 drugs [ 5 drugs ]	2 genes \| 9 pathways	46人年齢分布💬
196	ヤング・シンプソン症候群 [染] 💬 "Young-Simpson syndrome"	-	-	-	-
197	１ｐ36欠失症候群 [染] 💬 "1p36 deletion syndrome"	-	-	-	8人年齢分布💬
198	４ｐ欠失症候群 [染] 💬 "4p deletion syndrome", "4p-syndrome"	-	-	-	8人年齢分布💬
199	５ｐ欠失症候群 [染] 💬 "5p deletion syndrome", "5p-syndrome"	-	-	-	7人年齢分布💬
200	第14番染色体父親性ダイソミー症候群 [染] 💬 "Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome"	-	-	-	6人年齢分布💬
201	アンジェルマン症候群 [神] 💬 "Angelman syndrome"	25 trials \| 9 / 8 / 5 / 0 💬	40 drugs [ 11 drugs ]	22 genes \| 20 pathways	29人年齢分布💬
202	スミス・マギニス症候群 [染] 💬 "Smith-Magenis syndrome"	9 trials \| 7 / 4 / 2 / 1 💬	10 drugs [ 5 drugs ]	4 genes \| 7 pathways	4人年齢分布💬
203	22ｑ11.2欠失症候群 [循] 💬 "22q11.2 deletion syndrome"	5 trials \| 2 / 1 / 1 / 0 💬	7 drugs [ 1 drug ]	14 genes \| 23 pathways	73人年齢分布💬
204	エマヌエル症候群 [染] 💬 "Emanuel syndrome", "Derivative 22 syndrome", "Partial trisomy (11", "22)"	-	-	-	5人年齢分布💬
205	脆弱Ｘ症候群関連疾患 [染] 💬 "Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS", "Fragile X-associated tremor", "Ataxia syndrome"	5 trials \| 0 / 2 / 1 / 0 💬	7 drugs [ 5 drugs ]	22 genes \| 25 pathways	8人年齢分布💬
206	脆弱Ｘ症候群 [染] 💬 "Fragile X syndrome"	108 trials \| 35 / 49 / 16 / 8 💬	91 drugs [ 36 drugs ]	52 genes \| 77 pathways	1人年齢分布💬
207	総動脈幹遺残症 [循] 💬 "Persistent truncus arteriosus", "Persistent truncus arteriosus type I", "Persistent truncus arteriosus type II", "Persistent truncus arteriosus type III", "Persistent truncus arteriosus type IV"	-	-	-	38人年齢分布💬
208	修正大血管転位症 [循] 💬 "Corrected transposition of great arteries"	-	-	-	208人年齢分布💬
209	完全大血管転位症 [循] 💬 "Complete transposition of great vessel", "Complete transposition of great arteries", "Complete TGA", "Complete transposition of great vessel type I", "Complete transposition of great arteries type I", "Complete TGA type I", "Complete transposition of great vessel type II", "Complete transposition of great arteries type II", "Complete TGA type II", "Complete transposition of great vessel type III", "Complete transposition of great arteries type III", "Complete TGA type III", "Complete transposition of great vessel type IV", "Complete transposition of great arteries type IV", "Complete TGA type IV"	-	-	-	288人年齢分布💬
210	単心室症 [循] 💬 "Single Ventricle", "SV", "Single ventricle heart defect", "Univentricular heart", "UVH", "Single ventricular circulation syndrome"	51 trials \| 23 / 15 / 24 / 6 💬	53 drugs [ 22 drugs ]	32 genes \| 67 pathways	479人年齢分布💬
211	左心低形成症候群 [循] 💬 "Hypoplastic left heart syndrome", "HLHS"	22 trials \| 10 / 11 / 1 / 0 💬	29 drugs [ 9 drugs ]	5 genes \| 14 pathways	70人年齢分布💬
212	三尖弁閉鎖症 [循] 💬 "Tricuspid atresia", "TA"	5 trials \| 2 / 2 / 0 / 0 💬	6 drugs [ 6 drugs ]	8 genes \| 12 pathways	199人年齢分布💬
213	心室中隔欠損を伴わない肺動脈閉鎖症 [循] 💬 "Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia"	-	-	-	157人年齢分布💬
214	心室中隔欠損を伴う肺動脈閉鎖症 [循] 💬 "Pulmonary atresia with ventricular septum defect", "PAVSD", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with pulmonary atresia", "TFPA"	2 trials \| 0 / 0 / 0 / 0 💬	4 drugs [ 4 drugs ]	-	123人年齢分布💬
215	ファロー四徴症 [循] 💬 "Tetralogy of Fallot", "Fallot tetralogy"	18 trials \| 4 / 5 / 2 / 1 💬	26 drugs [ 14 drugs ]	13 genes \| 45 pathways	760人年齢分布💬
216	両大血管右室起始症 [循] 💬 "Double outlet right ventricle"	-	-	-	286人年齢分布💬
217	エプスタイン病 [循] 💬 "Ebstein disease", "Ebstein malformation"	-	-	-	141人年齢分布💬
218	アルポート症候群 [腎] 💬 "Alport syndrome", "X chromosome-linked Alport syndrome", "Autosomal recessive Alport syndrome"	30 trials \| 11 / 20 / 9 / 3 💬	36 drugs [ 15 drugs ]	8 genes \| 46 pathways	258人年齢分布💬
219	ギャロウェイ・モワト症候群 [腎] 💬 "Galloway-Mowat syndrome"	-	-	-	1人年齢分布💬
220	急速進行性糸球体腎炎 [腎] 💬 "Rapidly progressive glomerulonephritis"	2 trials \| 0 / 1 / 2 / 0 💬	4 drugs [ 2 drugs ]	1 gene \| 1 pathway	1,245人年齢分布💬
221	抗糸球体基底膜腎炎 [腎] 💬 "Anti-glomerular basement membrane disease"	1 trial \| 0 / 1 / 0 / 0 💬	3 drugs [ 1 drug ]	-	364人年齢分布💬
222	一次性ネフローゼ症候群 [腎] 💬 "Primary nephrotic syndrome", "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN"	310 trials \| 96 / 128 / 65 / 43 💬	295 drugs [ 117 drugs ]	63 genes \| 194 pathways	12,889人年齢分布💬
223	一次性膜性増殖性糸球体腎炎 [腎] 💬 "Primary membranoproliferative glomerulonephritis", "Primary MPGN", "Primary membranoproliferative glomerulonephritis type I", "Primary MPGN I", "Primary membranoproliferative glomerulonephritis type III", "Primary MPGN III", "Mesangial proliferative primary membranoproliferative glomerulonephritis type I", "Mesangial proliferative primary MPGN I", "Primary membranoproliferative glomerulonephritis type I, chronic / nest-like type", "Primary MPGN I, chronic / nest-like type", "Primary membranoproliferative glomerulonephritis type I, acute / nest-like type", "Primary MPGN I, acute / nest-like type", "Primary membranoproliferative glomerulonephritis type I, chronic / diffuse type", "Primary MPGN I, chronic / diffuse type", "Primary membranoproliferative glomerulonephritis type I, non-lobed type", "Primary MPGN I, non-lobed type", "Primary membranoproliferative glomerulonephritis type I, acute / diffuse type", "Primary MPGN I, acute / diffuse type", "Primary membranoproliferative glomerulonephritis type I, intraductal proliferation type", "Primary MPGN I, intraductal proliferation type", "Primary membranoproliferative glomerulonephritis type I, lobation type", "Primary MPGN I, lobation type", "Primary membranoproliferative glomerulonephritis type I, end-of-life type", "Primary MPGN I, end-of-life type"	-	-	-	373人年齢分布💬
224	紫斑病性腎炎 [腎] 💬 "Purpura nephritis"	16 trials \| 2 / 3 / 0 / 4 💬	43 drugs [ 21 drugs ]	15 genes \| 58 pathways	1,037人年齢分布💬
225	先天性腎性尿崩症 [腎] 💬 "Congenital nephrogenic diabetes insipidus", "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus"	15 trials \| 7 / 5 / 1 / 3 💬	48 drugs [ 18 drugs ]	31 genes \| 65 pathways	53人年齢分布💬
226	間質性膀胱炎（ハンナ型） [腎] 💬 "Interstitial cystitis with Hunners ulcer", "Interstitial cystitis"	145 trials \| 48 / 58 / 27 / 17 💬	156 drugs [ 51 drugs ]	64 genes \| 146 pathways	1,016人年齢分布💬
227	オスラー病 [染] 💬 "Osler disease", "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease"	56 trials \| 22 / 31 / 14 / 5 💬	72 drugs [ 21 drugs ]	23 genes \| 136 pathways	895人年齢分布💬
228	閉塞性細気管支炎 [呼] 💬 "Bronchiolitis obliterans", "Obliterating bronchiolitis"	97 trials \| 49 / 40 / 36 / 16 💬	118 drugs [ 32 drugs ]	33 genes \| 156 pathways	36人年齢分布💬
229	肺胞蛋白症（自己免疫性又は先天性） [呼] 💬 "Autoimmune pulmonary alveolar proteinosis", "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis", "PAP", "Autoimmune PAP", "Congenital PAP"	44 trials \| 31 / 21 / 27 / 5 💬	22 drugs [ 7 drugs ]	3 genes \| 14 pathways	238人年齢分布💬
230	肺胞低換気症候群 [呼] 💬 "Alveolar hypoventilation syndrome", "AHS", "Hypoventilation syndrome", "Obesity hypoventilation syndrome", "OHS", "Congenital central hypoventilation syndrome", "CCHS", "Idiopathic central alveolar hypoventilation", "ICAH"	6 trials \| 0 / 2 / 2 / 0 💬	7 drugs [ 4 drugs ]	16 genes \| 26 pathways	164人年齢分布💬
231	α1−アンチトリプシン欠乏症 [呼] 💬 "Alpha-1-antitrypsin deficiency", "AATD"	93 trials \| 47 / 59 / 29 / 8 💬	77 drugs [ 8 drugs ]	10 genes \| 36 pathways	16人年齢分布💬
232	カーニー複合 [内] 💬 "Carney complex"	2 trials \| 0 / 1 / 0 / 0 💬	2 drugs [ 1 drug ]	1 gene \| 29 pathways	25人年齢分布💬
233	ウォルフラム症候群 [内] 💬 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome"	11 trials \| 6 / 10 / 2 / 1 💬	17 drugs [ 8 drugs ]	12 genes \| 41 pathways	14人年齢分布💬
234	ペルオキシソーム病（副腎白質ジストロフィーを除く。） [代] 💬 "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "PEX gene disorder", "Zellweger syndrome", "Neonatal adrenoleukodystrophy", "Infantile Refsum disease", "Rhizomelic chondrodysplasia punctata type 1", "RCDP type 1", "RCDP1", "Peroxisomal beta-oxidation enzyme deficiency", "Acyl-CoA oxidase deficiency", "AOX deficiency", "D-Bifunctional protein deficiency", "DBP deficiency", "Sterol carrier protein X deficiency", "SCPx deficiency", "2-methylacyl-CoA racemase deficiency", "Alpha-methylacyl-CoA racemase deficiency", "AMACR deficiency", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Refsum disease", "Primary hyperoxaluria type 1", "PH1", "Acatalasemia", "Acatalasia", "Takahara disease", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS"	39 trials \| 30 / 21 / 18 / 5 💬	35 drugs [ 12 drugs ]	13 genes \| 45 pathways	1人年齢分布💬
235	副甲状腺機能低下症 [内] 💬 "Hypoparathyroidism", "Accessory thyroid hypergasia disease"	88 trials \| 16 / 20 / 38 / 18 💬	107 drugs [ 24 drugs ]	5 genes \| 7 pathways	311人年齢分布💬
236	偽性副甲状腺機能低下症 [内] 💬 "Pseudohypoparathyroidism", "PHP", "PHP1a", "PHP1b", "PHP1c", "PHP2"	3 trials \| 0 / 2 / 0 / 0 💬	3 drugs [ 2 drugs ]	18 genes \| 23 pathways	119人年齢分布💬
237	副腎皮質刺激ホルモン不応症 [内] 💬 "ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome"	-	-	-	16人年齢分布💬
238	ビタミンＤ抵抗性くる病／骨軟化症 [内] 💬 "Vitamin D-resistant rickets", "VDRR", "Vitamin D-resistant osteomalacia", "VDRO", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia", "Hypophosphatemic rickets/osteomalacia", "Hypophosphatemic rickets", "Hypophosphatemic osteomalacia", "Acquired vitamin D-resistant osteomalacia", "Acquired VDRO", "Tumor-induced osteomalacia", "TIO"	28 trials \| 5 / 5 / 8 / 4 💬	20 drugs [ 9 drugs ]	3 genes \| 16 pathways	462人年齢分布💬
239	ビタミンＤ依存性くる病／骨軟化症 [内] 💬 "Vitamin D-dependent rickets", "Vitamin D-dependent osteomalacia", "VDDR", "Vitamin D-dependent rickets type 1", "VDDR1", "Vitamin D-dependent rickets type 2", "VDDR2"	-	-	-	5人年齢分布💬
240	フェニルケトン尿症 [代] 💬 "Phenylketonuria", "PKU", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia"	143 trials \| 79 / 31 / 43 / 26 💬	90 drugs [ 10 drugs ]	1 gene \| 5 pathways	280人年齢分布💬
241	高チロシン血症1型 [代] 💬 "Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I", "Fumarylacetoacetate hydrolase deficiency", "FAH deficiency", "Acute hypertyrosinemia type I", "Acute tyrosinemia type I", "Acute tyrosinemia I", "Subacute hypertyrosinemia type I", "Subacute tyrosinemia type I", "Subacute tyrosinemia I", "Chronic hypertyrosinemia type I", "Chronic tyrosinemia type I", "Chronic tyrosinemia I"	14 trials \| 4 / 1 / 1 / 1 💬	7 drugs [ 1 drug ]	1 gene \| 5 pathways	2人年齢分布💬
242	高チロシン血症2型 [代] 💬 "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"	-	-	-	1人年齢分布💬
243	高チロシン血症3型 [代] 💬 "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"	-	-	-	1人年齢分布💬
244	メープルシロップ尿症 [代] 💬 "Maple syrup urine disease", "MSUD"	1 trial \| 0 / 1 / 1 / 0 💬	1 drug [ 1 drug ]	-	16人年齢分布💬
245	プロピオン酸血症 [代] 💬 "Propionic acidemia"	13 trials \| 5 / 7 / 1 / 0 💬	16 drugs [ 3 drugs ]	1 gene \| 6 pathways	16人年齢分布💬
246	メチルマロン酸血症 [代] 💬 "Methylmalonic acidemia"	23 trials \| 13 / 15 / 2 / 2 💬	31 drugs [ 8 drugs ]	17 genes \| 23 pathways	33人年齢分布💬
247	イソ吉草酸血症 [代] 💬 "Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency"	-	-	-	4人年齢分布💬
248	グルコーストランスポーター1欠損症 [代] 💬 "Glucose transporter type 1 deficiency", "GLUT1 deficiency"	29 trials \| 43 / 20 / 9 / 8 💬	9 drugs [ 1 drug ]	-	21人年齢分布💬
249	グルタル酸血症1型 [代] 💬 "Glutaric acidemia type 1"	-	-	-	7人年齢分布💬
250	グルタル酸血症2型 [代] 💬 "Glutaric acidemia type 2", "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD", "Glutaric acidemia type 2, neonatal onset type", "Multiple acyl-CoA dehydrogenase deficiency, neonatal onset type", "Multiple acyl-CoA dehydrogenation deficiency, neonatal onset type", "MADD, neonatal onset type", "Glutaric acidemia type 2, infant/school child onset type", "Multiple acyl-CoA dehydrogenase deficiency, infant/school child onset type", "Multiple acyl-CoA dehydrogenation deficiency, infant/school child onset type", "MADD, infant/school child onset type", "Glutaric acidemia type 2, adult-onset type", "Multiple acyl-CoA dehydrogenase deficiency, adult-onset type", "Multiple acyl-CoA dehydrogenation deficiency, adult-onset type", "MADD, adult-onset type"	-	-	-	8人年齢分布💬
251	尿素サイクル異常症 [代] 💬 "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"	54 trials \| 31 / 31 / 6 / 5 💬	61 drugs [ 15 drugs ]	3 genes \| 28 pathways	102人年齢分布💬
252	リジン尿性蛋白不耐症 [代] 💬 "Lysinuric protein intolerance"	-	-	-	25人年齢分布💬
253	先天性葉酸吸収不全 [代] 💬 "Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption"	-	-	-	-
254	ポルフィリン症 [代] 💬 "Porphyria", "Acute intermittent porphyria", "AIP", "Hereditary coproporphyria", "HCP", "Variegate porphyria", "VP", "Erythropoietic protoporphyria", "EPP", "Porphyria cutanea tarda", "PCT", "Congenital erythropoietic porphyria", "CEP", "X-linked dominant protoporphyria", "XLDP", "Hepatoerythropoietic porphyria", "HEP"	72 trials \| 19 / 17 / 38 / 3 💬	53 drugs [ 16 drugs ]	19 genes \| 35 pathways	48人年齢分布💬
255	複合カルボキシラーゼ欠損症 [代] 💬 "Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency"	1 trial \| 1 / 1 / 0 / 0 💬	1 drug [ - ]	-	6人年齢分布💬
256	筋型糖原病 [代] 💬 "Muscle glycogenosis", "Muscular glycogenosis", "Muscle glycogen storage disease", "Muscular glycogen storage disease", "Glycogen storage disease type 0", "GSD0", "Glycogen synthase deficiency", "Glycogen storage disease type II", "GSDII", "Pompe disease", "Alpha-1,4-glucosidase acid deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Glycogen storage disease type V", "GSDV", "McArdle disease", "Muscle phosphorylase deficiency", "Muscular phosphorylase deficiency", "Glycogen storage disease type VII", "GSDVII", "Tarui disease", "Phosphofructokinase deficiency", "PFK deficiency", "Glycogen storage disease type IXd", "GSDIXd", "Phosphorylase kinase deficiency", "Phosphoglycerate kinase deficiency", "PGK deficiency", "Glycogen storage disease type X", "GSDX", "Phosphoglycerate mutase deficiency", "Glycogen storage diseass type XI", "GSDXI", "Kanno disease", "Lactate dehydrogenase deficiency", "Glycogen storage diseass type XII", "GSDXII", "Aldolase A deficiency", "Glycogen storage diseass type XIII", "GSDXIII", "Beta-enolase deficiency", "Glycogen storage diseass type XIV", "GSDXIV", "Phosphoglucomutase deficiency", "Glycogen storage diseass type XV", "GSDXV", "Glycogenin 1 deficiency"	180 trials \| 81 / 57 / 68 / 34 💬	133 drugs [ 29 drugs ]	25 genes \| 105 pathways	26人年齢分布💬
257	肝型糖原病 [代] 💬 "Hepatic glycogenosis", "Liver glycogenosis", "Hepatic glycogen storage disease", "Liver glycogen storage disease", "Glycogen storage disease type I", "GSDI", "von Gierke disease", "Glucose-6-phosphatase deficiency", "G6Pase deficiency", "Glycogen storage disease type III", "GSDIII", "Cori disease", "Forbes disease", "Glycogen debranching enzyme deficiency", "Glycogen storage disease type IV", "GSDIV", "Andersen disease", "Glycogen-branching enzyme deficiency", "GBED", "Adult polyglucosan body disease", "Glycogen storage disease type VI", "GSDVI", "Hers disease", "Hepatic phosphorylase deficiency", "Liver phosphorylase deficiency", "Glycogen storage disease type IX", "GSDIX", "Phosphorylase kinase deficiency"	14 trials \| 4 / 7 / 0 / 0 💬	27 drugs [ 7 drugs ]	3 genes \| 8 pathways	105人年齢分布💬
258	ガラクトース−１−リン酸ウリジルトランスフェラーゼ欠損症 [代] 💬 "Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency"	-	-	-	2人年齢分布💬
259	レシチンコレステロールアシルトランスフェラーゼ欠損症 [代] 💬 "Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Classical lecithin-cholesterol acyltransferase deficiency", "Classical LCAT deficiency", "Partial lecithin-cholesterol acyltransferase deficiency", "Partial LCAT deficiency", "Fish-eye disease"	1 trial \| 0 / 0 / 0 / 0 💬	1 drug [ - ]	-	3人年齢分布💬
260	シトステロール血症 [代] 💬 "Sitosterolemia"	12 trials \| 0 / 1 / 5 / 0 💬	11 drugs [ 3 drugs ]	1 gene \| 1 pathway	22人年齢分布💬
261	タンジール病 [代] 💬 "Tangier disease"	-	-	-	9人年齢分布💬
262	原発性高カイロミクロン血症 [代] 💬 "Primary hyperchylomicronemia"	-	-	-	55人年齢分布💬
263	脳腱黄色腫症 [神] 💬 "Cerebrotendinous xanthomatosis", "27-hydroxylase deficiency", "CYP27 deficiency"	6 trials \| 0 / 1 / 2 / 0 💬	11 drugs [ 2 drugs ]	2 genes \| 4 pathways	48人年齢分布💬
264	無βリポタンパク血症 [代] 💬 "Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency"	-	-	-	3人年齢分布💬
265	脂肪萎縮症 [内] 💬 "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"	112 trials \| 33 / 34 / 20 / 30 💬	155 drugs [ 55 drugs ]	25 genes \| 97 pathways	35人年齢分布💬
266	家族性地中海熱 [免] 💬 "Familial mediterranean fever"	28 trials \| 1 / 9 / 10 / 1 💬	22 drugs [ 5 drugs ]	14 genes \| 59 pathways	657人年齢分布💬
267	高IgＤ症候群 [免] 💬 "Hyper-IgD syndrome", "HIDS", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome"	11 trials \| 0 / 2 / 9 / 0 💬	6 drugs [ 1 drug ]	1 gene \| 44 pathways	3人年齢分布💬
268	中條・西村症候群 [免] 💬 "Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome"	-	-	-	8人年齢分布💬
269	化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 [免] 💬 "Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome"	23 trials \| 7 / 14 / 7 / 2 💬	30 drugs [ 12 drugs ]	15 genes \| 106 pathways	14人年齢分布💬
270	慢性再発性多発性骨髄炎 [骨] 💬 "Chronic recurrent multifocal osteomyelitis"	1 trial \| 0 / 0 / 0 / 0 💬	10 drugs [ 9 drugs ]	6 genes \| 73 pathways	115人年齢分布💬
271	強直性脊椎炎 [骨] 💬 "Ankylosing spondylitis", "Spondylarthritis ankylopoietica"	574 trials \| 236 / 145 / 234 / 113 💬	359 drugs [ 68 drugs ]	41 genes \| 146 pathways	4,981人年齢分布💬
272	進行性骨化性線維異形成症 [骨] 💬 "Fibrodysplasia ossificans progressiva", "FOP"	39 trials \| 17 / 26 / 15 / 3 💬	38 drugs [ 7 drugs ]	27 genes \| 95 pathways	24人年齢分布💬
273	肋骨異常を伴う先天性側弯症 [骨] 💬 "Congenital scoliosis with rib anomaly", "Congenital scoliosis"	-	-	-	21人年齢分布💬
274	骨形成不全症 [骨] 💬 "Osteogenesis Imperfecta"	91 trials \| 24 / 23 / 32 / 11 💬	101 drugs [ 20 drugs ]	11 genes \| 48 pathways	152人年齢分布💬
275	タナトフォリック骨異形成症 [骨] 💬 "Thanatophoric dysplasia"	-	-	-	5人年齢分布💬
276	軟骨無形成症 [骨] 💬 "Achondroplasia"	51 trials \| 27 / 39 / 13 / 6 💬	34 drugs [ 6 drugs ]	4 genes \| 26 pathways	104人年齢分布💬
277	リンパ管腫症／ゴーハム病 [呼] 💬 "Lymphangiomatosis", "Generalized lymphatic anomaly", "Gorham disease", "Gorham-Stout disease", "Diffuse lymphangiomatosis", "Mass osteolysis"	6 trials \| 2 / 2 / 1 / 0 💬	2 drugs [ 2 drugs ]	1 gene \| 51 pathways	74人年齢分布💬
278	巨大リンパ管奇形（頚部顔面病変） [呼] 💬 "Huge lymphatic malformation with cervicofacial lesion", "Huge lymphatic malformation", "Lymphatic malformation"	19 trials \| 12 / 10 / 4 / 4 💬	22 drugs [ 7 drugs ]	5 genes \| 63 pathways	24人年齢分布💬
279	巨大静脈奇形（頚部口腔咽頭びまん性病変） [循] 💬 "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation"	15 trials \| 1 / 7 / 1 / 2 💬	24 drugs [ 10 drugs ]	3 genes \| 105 pathways	49人年齢分布💬
280	巨大動静脈奇形（頚部顔面又は四肢病変） [循] 💬 "Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation"	27 trials \| 14 / 7 / 2 / 6 💬	30 drugs [ 15 drugs ]	14 genes \| 153 pathways	103人年齢分布💬
281	クリッペル・トレノネー・ウェーバー症候群 [循] 💬 "Klippel-Trenaunay-Weber syndrome", "Klippel-Trenauney-Weber syndrome", "Klippel-Trenaunay syndrome", "Klippel-Trenauney syndrome", "KTS", "Parkes Weber syndrome", "PWS"	2 trials \| 0 / 0 / 0 / 0 💬	2 drugs [ 1 drug ]	1 gene \| 51 pathways	244人年齢分布💬
282	先天性赤血球形成異常性貧血 [血] 💬 "Congenital dyserythropoietic anemia", "CDA"	1 trial \| 0 / 0 / 0 / 1 💬	1 drug [ 1 drug ]	2 genes \| 4 pathways	8人年齢分布💬
283	後天性赤芽球癆 [血] 💬 "Acquired pure red cell aplasia", "Pure red cell aplasia"	19 trials \| 7 / 13 / 2 / 5 💬	36 drugs [ 23 drugs ]	20 genes \| 102 pathways	897人年齢分布💬
284	ダイアモンド・ブラックファン貧血 [血] 💬 "Diamond-Blackfan anemia"	36 trials \| 18 / 25 / 4 / 2 💬	95 drugs [ 34 drugs ]	23 genes \| 126 pathways	22人年齢分布💬
285	ファンコニ貧血 [血] 💬 "Fanconi anemia"	62 trials \| 27 / 37 / 3 / 1 💬	93 drugs [ 30 drugs ]	30 genes \| 144 pathways	14人年齢分布💬
286	遺伝性鉄芽球性貧血 [血] 💬 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia"	7 trials \| 5 / 2 / 1 / 1 💬	20 drugs [ 10 drugs ]	8 genes \| 43 pathways	14人年齢分布💬
287	エプスタイン症候群 [染] 💬 "Epstein syndrome"	-	-	-	12人年齢分布💬
288	自己免疫性後天性凝固因子欠乏症 [血] 💬 "Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "VWF deficiency", "von Willebrand Disease", "VWD", "Factor V deficiency", "Factor X deficiency"	206 trials \| 44 / 31 / 95 / 28 💬	231 drugs [ 28 drugs ]	10 genes \| 21 pathways	404人年齢分布💬
289	クロンカイト・カナダ症候群 [消] 💬 "Cronkhite-Canada syndrome"	1 trial \| 0 / 0 / 0 / 0 💬	1 drug [ 1 drug ]	-	194人年齢分布💬
290	非特異性多発性小腸潰瘍症 [消] 💬 "Chronic nonspecific multiple ulcers of the small intestine", "Nonspecific multiple ulcers in the small intestine"	1 trial \| 1 / 1 / 0 / 0 💬	1 drug [ 1 drug ]	1 gene \| 1 pathway	85人年齢分布💬
291	ヒルシュスプルング病（全結腸型又は小腸型） [消] 💬 "Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis"	12 trials \| 0 / 1 / 2 / 1 💬	24 drugs [ 15 drugs ]	-	19人年齢分布💬
292	総排泄腔外反症 [消] 💬 "Cloacal exstrophy", "Vesicointestinal fissure"	-	-	-	18人年齢分布💬
293	総排泄腔遺残 [消] 💬 "Persistent cloaca"	-	-	-	50人年齢分布💬
294	先天性横隔膜ヘルニア [呼] 💬 "Congenital diaphragmatic hernia"	16 trials \| 6 / 4 / 6 / 3 💬	26 drugs [ 5 drugs ]	5 genes \| 14 pathways	12人年齢分布💬
295	乳幼児肝巨大血管腫 [消] 💬 "Infant huge hepatic hemangioma", "Infant giant liver hemangioma"	-	-	-	-
296	胆道閉鎖症 [消] 💬 "Biliary atresia"	71 trials \| 6 / 19 / 12 / 5 💬	70 drugs [ 39 drugs ]	35 genes \| 60 pathways	449人年齢分布💬
297	アラジール症候群 [消] 💬 "Alagille syndrome"	45 trials \| 7 / 21 / 16 / 2 💬	21 drugs [ 10 drugs ]	3 genes \| 5 pathways	44人年齢分布💬
298	遺伝性膵炎 [消] 💬 "Hereditary pancreatitis", "Chronic pancreatitis"	95 trials \| 23 / 25 / 17 / 7 💬	148 drugs [ 51 drugs ]	53 genes \| 142 pathways	33人年齢分布💬
299	嚢胞性線維症 [消] 💬 "Cystic fibrosis"	1,695 trials \| 668 / 515 / 636 / 214 💬	1,527 drugs [ 268 drugs ]	111 genes \| 174 pathways	13人年齢分布💬
300	IgＧ４関連疾患 [免] 💬 "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease"	40 trials \| 4 / 8 / 15 / 5 💬	47 drugs [ 21 drugs ]	18 genes \| 141 pathways	3,766人年齢分布💬
301	黄斑ジストロフィー [視] 💬 "Macular dystrophy", "Vitelliform macular dystrophy", "Best vitelliform macular dystrophy", "Best disease", "Stargardt disease", "Occult macular dystrophy", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy"	46 trials \| 21 / 28 / 8 / 1 💬	42 drugs [ 11 drugs ]	9 genes \| 67 pathways	217人年齢分布💬
302	レーベル遺伝性視神経症 [視] 💬 "Leber hereditary optic neuropathy"	23 trials \| 29 / 12 / 15 / 6 💬	15 drugs [ 5 drugs ]	5 genes \| 33 pathways	134人年齢分布💬
303	アッシャー症候群 [聴] 💬 [視] 💬 "Usher syndrome"	10 trials \| 6 / 10 / 2 / 0 💬	11 drugs [ - ]	-	26人年齢分布💬
304	若年発症型両側性感音難聴 [聴] 💬 "Juvenile-onset bilateral sensorineural hearing loss"	-	-	-	53人年齢分布💬
305	遅発性内リンパ水腫 [聴] 💬 "Delayed endolymphatic hydrops"	1 trial \| 0 / 0 / 0 / 0 💬	1 drug [ 1 drug ]	-	28人年齢分布💬
306	好酸球性副鼻腔炎 [免] 💬 [聴] 💬 "Eosinophilic sinusitis"	-	-	-	22,340人年齢分布💬
307	カナバン病 [神] 💬 "Canavan disease"	6 trials \| 3 / 3 / 0 / 0 💬	11 drugs [ 5 drugs ]	2 genes \| 2 pathways	-
308	進行性白質脳症 [神] 💬 "Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure"	-	-	-	20人年齢分布💬
309	進行性ミオクローヌスてんかん [神] 💬 "Progressive myoclonus epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME"	11 trials \| 0 / 0 / 6 / 0 💬	15 drugs [ 2 drugs ]	4 genes \| 9 pathways	43人年齢分布💬
310	先天異常症候群 [染] 💬 "Congenital anomalies syndrome", "Partial trisomy 1q syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome"	11 trials \| 2 / 7 / 0 / 0 💬	20 drugs [ 10 drugs ]	3 genes \| 7 pathways	32人年齢分布💬
311	先天性三尖弁狭窄症 [循] 💬 "Congenital tricuspid stenosis"	-	-	-	4人年齢分布💬
312	先天性僧帽弁狭窄症 [循] 💬 "Congenital mitral stenosis"	-	-	-	13人年齢分布💬
313	先天性肺静脈狭窄症 [循] 💬 "Congenital pulmonary vein stenosis"	-	-	-	2人年齢分布💬
314	左肺動脈右肺動脈起始症 [循] 💬 "Vascular sling"	-	-	-	2人年齢分布💬
315	ネイルパテラ症候群（爪膝蓋骨症候群）/ＬＭＸ１Ｂ関連腎症 [腎] 💬 "Nail-Patella syndrome", "LMX1B-associated nephropathy"	-	-	-	12人年齢分布💬
316	カルニチン回路異常症 [代] 💬 "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"	4 trials \| 0 / 1 / 1 / 0 💬	10 drugs [ 4 drugs ]	2 genes \| 11 pathways	20人年齢分布💬
317	三頭酵素欠損症 [代] 💬 "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"	4 trials \| 1 / 0 / 0 / 0 💬	9 drugs [ 4 drugs ]	1 gene \| 1 pathway	4人年齢分布💬
318	シトリン欠損症 [代] 💬 "Citrin deficiency", "Neonatal intrahepatic cholestasis caused by citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2"	2 trials \| 0 / 1 / 0 / 0 💬	2 drugs [ 2 drugs ]	-	64人年齢分布💬
319	セピアプテリン還元酵素（SR）欠損症 [代] 💬 "Sepiapterin reductase deficiency"	-	-	-	2人年齢分布💬
320	先天性グリコシルホスファチジルイノシトール（GPI）欠損症 [神] 💬 "Inherited glycosylphosphatidylinositol deficiency", "Inherited GPI deficiency", "IGD", "Congenital glycosylphosphatidylinositol deficiency", "Congenital GPI deficiency"	3 trials \| 0 / 0 / 0 / 0 💬	2 drugs [ 2 drugs ]	-	1人年齢分布💬
321	非ケトーシス型高グリシン血症 [代] 💬 "Non-ketotic hyperglycinemia", "NKH", "Neonatal non-ketotic hyperglycinemia", "Neonatal NKH", "Infantile non-ketotic hyperglycinemia", "Infantile NKH"	1 trial \| 0 / 0 / 0 / 0 💬	2 drugs [ 2 drugs ]	-	3人年齢分布💬
322	β−ケトチオラーゼ欠損症 [代] 💬 "Beta-ketothiolase deficiency"	-	-	-	-
323	芳香族L-アミノ酸脱炭酸酵素欠損症 [代] 💬 "Aromatic L-amino acid decarboxylase deficiency"	-	-	-	5人年齢分布💬
324	メチルグルタコン酸尿症 [代] 💬 "Methylglutaconic aciduria", "3-methylglutaconyl-CoA hydratase deficiency", "3-methylglutaconic aciduria", "3-MGA", "3-MGA type I", "Barth syndrome", "3-MGA type II", "Costeff syndrome", "3-MGA type III", "Mitochondrial respiratory chain disorder", "3-MGA type IV", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome", "3-MGA type V"	4 trials \| 5 / 2 / 2 / 1 💬	4 drugs [ 3 drugs ]	1 gene \| 10 pathways	1人年齢分布💬
325	遺伝性自己炎症疾患 [免] 💬 "Hereditary autoinflammatory syndrome", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "DADA2", "Aicardi-Goutieres syndrome", "AGS", "A20 haploinsufficiency", "HA20"	5 trials \| 1 / 4 / 0 / 0 💬	11 drugs [ 6 drugs ]	2 genes \| 35 pathways	14人年齢分布💬
326	大理石骨病 [代] 💬 "Osteopetrosis", "Neonatal / infantile osteopetrosis", "Intermediate osteopetrosis", "Delayed-onset osteopetrosis"	18 trials \| 4 / 12 / 4 / 0 💬	43 drugs [ 14 drugs ]	17 genes \| 82 pathways	21人年齢分布💬
327	特発性血栓症（遺伝性血栓性素因によるものに限る。） [血] 💬 "Idiopathic thrombosis"	-	-	-	243人年齢分布💬
328	前眼部形成異常 [視] 💬 "Anterior segment dysgenesis", "ASD"	-	-	-	17人年齢分布💬
329	無虹彩症 [視] 💬 "Aniridia"	3 trials \| 0 / 2 / 0 / 0 💬	2 drugs [ 2 drugs ]	-	138人年齢分布💬
330	先天性気管狭窄症/先天性声門下狭窄症 [呼] 💬 [聴] 💬 "Congenital tracheal stenosis", "Congenital subglottic stenosis"	1 trial \| 0 / 1 / 0 / 0 💬	3 drugs [ 2 drugs ]	-	44人年齢分布💬
331	特発性多中心性キャッスルマン病 [血] 💬 "Idiopathic multicentric castleman disease", "iMCD", "Castleman disease"	33 trials \| 15 / 24 / 2 / 4 💬	41 drugs [ 21 drugs ]	22 genes \| 123 pathways	1,694人年齢分布💬
332	膠様滴状角膜ジストロフィー [視] 💬 "Gelatinous drop-like corneal dystrophy"	-	-	-	3人年齢分布💬
333	ハッチンソン・ギルフォード症候群 [染] 💬 "Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS"	8 trials \| 2 / 5 / 0 / 0 💬	8 drugs [ 3 drugs ]	4 genes \| 6 pathways	-
334	脳クレアチン欠乏症候群 [神] 💬 "Cerebral creatine deficiency syndrome", "CCDS"	-	-	-	-
335	ネフロン癆 [腎] 💬 "Nephronophthisis", "NPHP", "NPH"	1 trial \| 0 / 0 / 0 / 0 💬	1 drug [ - ]	-	17人年齢分布💬
336	家族性低βリポタンパク血症1（ホモ接合体） [代] 💬 "Familial hypobetalipoproteinemia 1", "FHBL1"	-	-	-	1人年齢分布💬
337	ホモシスチン尿症 [代] 💬 "Homocystinuria", "Homocystinuria type I", "Cystathionine beta-synthase deficiency", "CBS deficiency", "Homocystinuria type II", "Homocystinuria cblC type", "Cobalamin C deficiency", "cblC deficiency", "Homocystinuria type III", "Methylenetetrahydrofolate reductase deficiency", "MTHFR deficiency"	16 trials \| 6 / 9 / 0 / 1 💬	19 drugs [ 7 drugs ]	2 genes \| 23 pathways	24人年齢分布💬
338	進行性家族性肝内胆汁うっ滞症 [消] 💬 "Progressive familial intrahepatic cholestasis", "PFIC"	60 trials \| 27 / 18 / 40 / 5 💬	26 drugs [ 6 drugs ]	2 genes \| 2 pathways	3人年齢分布💬