Disease（疾患リスト）：指定難病333疾患の臨床試験情報（2019年11月）
| 告示 番号 | 疾患名 Disease name (Searched query to trials) --- Original disease list | 臨床試験数 Phase 1 / 2 / 3 / 4 |
薬物数 [ DrugBank ] |
標的遺伝子／ パスウェイ数 |
国内患者数 （指定難病 概要、診断基準等より） | 関連情報 |
| 1 | 球脊髄性筋萎縮症 "Spinal and bulbar muscular atrophy", "Spinobulbar muscular atrophy", "Kennedy disease" | 11 trials 1 / 6 / 1 / 1 | 14 drugs [ 8 drugs ] | 10 genes 15 pathways | 1,223人 | Biobank Animal model |
| 2 | 筋萎縮性側索硬化症 "Amyotrophic lateral sclerosis" | 322 trials 89 / 168 / 51 / 5 | 365 drugs [ 127 drugs ] | 161 genes 207 pathways | 9,096人 | Biobank Animal model |
| 3 | 脊髄性筋萎縮症 "Spinal muscular atrophy", "Myelopathic muscular atrophy", "SMA I", "Werdnig-Hoffman disease", "SMA II", "Dubowitz disease", "SMA III", "Kugelberg-Welander disease", "SMA IV" | 75 trials 22 / 46 / 19 / 3 | 73 drugs [ 24 drugs ] | 49 genes 75 pathways | 712人 | Biobank |
| 4 | 原発性側索硬化症 "Primary lateral sclerosis" | 6 trials 3 / 2 / 0 / 1 | 12 drugs [ 7 drugs ] | 17 genes 29 pathways | 175人（研究班による） | Biobank |
| 5 | 進行性核上性麻痺 "Progressive supranuclear palsy" | 55 trials 19 / 18 / 10 / 1 | 78 drugs [ 31 drugs ] | 59 genes 86 pathways | 約8,100人 | Biobank |
| 6 | パーキンソン病 "Parkinson disease" | 1,307 trials 245 / 431 / 249 / 138 | 1,322 drugs [ 270 drugs ] | 161 genes 166 pathways | 約108,800人（パーキンソン病関連疾患から推計） | Biobank |
| 7 | 大脳皮質基底核変性症 "Corticobasal degeneration", "Corticobasal syndrome" | 15 trials 5 / 2 / 1 / 0 | 21 drugs [ 9 drugs ] | 6 genes 13 pathways | 3,500人 | |
| 8 | ハンチントン病 "Huntington disease", "Huntington chorea" | 110 trials 34 / 54 / 19 / 3 | 125 drugs [ 50 drugs ] | 87 genes 146 pathways | 933人 | Biobank Animal model |
| 9 | 神経有棘赤血球症 "Neuroacanthocytosis", "Choreoacanthocytosis", "Chorea-acanthocytosis", "Levine-Critchley syndrome", "McLeod syndrome" | - | - | - | 100人未満（研究班による） | |
| 10 | シャルコー・マリー・トゥース病 "Charcot-Marie-Tooth disease" | 19 trials 4 / 12 / 4 / 0 | 31 drugs [ 9 drugs ] | 12 genes 14 pathways | 6,250人（研究班による） | Biobank Animal model |
| 11 | 重症筋無力症 "Myasthenia gravis" | 96 trials 8 / 34 / 32 / 6 | 101 drugs [ 36 drugs ] | 33 genes 80 pathways | 22,998人 | |
| 12 | 先天性筋無力症候群 "Congenital myasthenic syndrome", "End-plate acetylcholine receptor deficiency", "Sodium channel myasthenia", "End-plate acetylcholine esterase deficiency" | 4 trials 2 / 1 / 0 / 0 | 5 drugs [ 3 drugs ] | 3 genes 11 pathways | 100人未満（研究班による） | |
| 13 | 多発性硬化症／視神経脊髄炎 "Multiple sclerosis", "Neuromyelitis optica", "Devic disease", "Balo concentric sclerosis", "Baló concentric sclerosis" | 1,398 trials 207 / 412 / 334 / 196 | 1,426 drugs [ 306 drugs ] | 216 genes 210 pathways | 17,073人 | Biobank |
| 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 "Chronic inflammatory demyelinating polyneuropathy", "Chronic inflammatory demyelinating poly (radiculo) neuropathy", "Multifocal motor neuropathy", "CIDP" | 65 trials 1 / 17 / 30 / 5 | 91 drugs [ 23 drugs ] | 15 genes 57 pathways | 4,633人 | |
| 15 | 封入体筋炎 "Inclusion body myositis" | 21 trials 3 / 13 / 8 / 0 | 23 drugs [ 10 drugs ] | 11 genes 112 pathways | 1,000人（研究班による） | Biobank |
| 16 | クロウ・深瀬症候群 "Crow-Fukase syndrome", "POEMS syndrome", "Polyneuropathy, organomegaly, endocrinopathy, m-protein, and skin changes syndrome", "Takatsuki disease", "PEP syndrome", "Polyneuropathy, endocrinopathy, plasma cell dyscrasia syndrome" | 10 trials 0 / 7 / 2 / 0 | 12 drugs [ 6 drugs ] | 4 genes 66 pathways | 340人（研究班による） | |
| 17 | 多系統萎縮症 "Multiple system atrophy", "Olivopontocerebellar atrophy", "Striatonigral degeneration", "Shy-Drager syndrome" | 51 trials 14 / 17 / 8 / 1 | 85 drugs [ 41 drugs ] | 57 genes 98 pathways | 11,733人 | Biobank |
| 18 | 脊髄小脳変性症（多系統萎縮症を除く。） "Spinocerebellar degeneration" | 14 trials 1 / 6 / 6 / 2 | 11 drugs [ 5 drugs ] | 20 genes 11 pathways | 25,447人 | |
| 19 | ライソゾーム病 "Lysosomal storage disease", "Lysosomal disease", "Gaucher disease", "Niemann-Pick disease", "Niemann-Pick type C", "GM1-gangliosidosis", "GM1-gangliosidoses", "GM2-gangliosidosis", "GM2-gangliosidoses", "Tay-Sachs disease", "Sandhoff disease", "Krabbe disease", "Metachromatic leukodystrophy", "Multiple-sulfatase deficiency", "Farber disease", "Mucopolysaccharidosis type I", "Mucopolysaccharidosis I", "MPS I", "Hurler 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", "Salla disease", "Ceroid lipofuscinosis", "Fabry disease", "Cystinosis" | 399 trials 116 / 173 / 93 / 35 | 369 drugs [ 77 drugs ] | 59 genes 147 pathways | 911人 | Animal model |
| 20 | 副腎白質ジストロフィー "Adrenoleukodystrophy", "Adrenomyeloneuropathy" | 31 trials 8 / 16 / 12 / 0 | 60 drugs [ 27 drugs ] | 17 genes 102 pathways | 193人 | |
| 21 | ミトコンドリア病 "Mitochondrial disease" | 20 trials 5 / 10 / 3 / 1 | 16 drugs [ 6 drugs ] | 19 genes 8 pathways | 1,087人 | Biobank Animal model |
| 22 | もやもや病 "Moyamoya disease", "Occlusive disease in circle of Willis" | 8 trials 1 / 1 / 0 / 1 | 11 drugs [ 10 drugs ] | 19 genes 30 pathways | 15,177人 | Biobank |
| 23 | プリオン病 "Prion disease", "Creutzfeldt-Jakob disease", "Gerstmann-Straussler-Scheinker syndrome", "Fatal familial insomnia", "Kuru disease" | 3 trials 0 / 1 / 0 / 0 | 5 drugs [ 2 drugs ] | - | 584人 | |
| 24 | 亜急性硬化性全脳炎 "Subacute sclerosing panencephalitis" | - | - | - | 約100人 | Biobank |
| 25 | 進行性多巣性白質脳症 "Progressive multifocal leukoencephalopathy", "Leukoencephalopathy, progressive multifocal" | 16 trials 2 / 6 / 0 / 2 | 26 drugs [ 20 drugs ] | 7 genes 34 pathways | 100人未満（研究班による） | |
| 26 | HTLV-1関連脊髄症 "HTLV-1-associated myelopathy", "Tropical spastic paraparesis", "HTLV-1", "HTLV-I-associated myelopathy" | 23 trials 7 / 13 / 8 / 0 | 39 drugs [ 26 drugs ] | 37 genes 116 pathways | 3,000人 （研究班による） | Biobank |
| 27 | 特発性基底核石灰化症 "Idiopathic basal ganglia calcification", "Idiopathic basal ganglia calcification disease", "Fahr disease", "FIBGC", "Primary familial brain calcification", "PFBC" | - | - | - | 200人（研究班による） | |
| 28 | 全身性アミロイドーシス "Systemic amyloidosis", "AL amyloidosis", "Immunoglobulin light chain amyloidosis", "Amyloid light-chain amyloidosis", "Familial amyloid polyneuropathy", "Senile systemic amylodosis" | 111 trials 27 / 62 / 25 / 0 | 123 drugs [ 62 drugs ] | 50 genes 161 pathways | 1,802人 | |
| 29 | ウルリッヒ病 "Ullrich disease", "Ullrich congenital muscular dystrophy", "Collagen VI-related myopathy" | - | - | - | 約300人（研究班による） | |
| 30 | 遠位型ミオパチー "Distal myopathy", "Distal muscular dystrophy", "Miyoshi myopathy", "Oculopharyngodistal myopathy" | 8 trials 1 / 3 / 5 / 0 | 13 drugs [ 2 drugs ] | 1 gene 1 pathway | 400人（研究班による） | Animal model |
| 31 | ベスレムミオパチー "Bethlem myopathy", "Beth Rem myopathy" | - | - | - | 100人未満（研究班による） | |
| 32 | 自己貪食空胞性ミオパチー "Autophagic vacuolar myopathy", "Danon disease", "X-linked myopathy with excessive autophagy", "XMEA" | 1 trial 1 / 0 / 0 / 0 | 1 drug [ - ] | - | 100人未満（研究班による） | |
| 33 | シュワルツ・ヤンペル症候群 "Schwartz-Jampel syndrome", "Schwarz-Yanperu syndrome", "Myotonic chondrodystrophy", "Cartilage dystrophic myotonia", "Stuve-Wiedemann syndrome", "Stüve-Wiedemann syndrome" | - | - | - | 100人未満（研究班による） | |
| 34 | 神経線維腫症 "Neurofibromatosis", "von Recklinghausen disease" | 98 trials 22 / 65 / 4 / 4 | 130 drugs [ 60 drugs ] | 84 genes 186 pathways | 3,588人 | Biobank |
| 35 | 天疱瘡 "Pemphigus" | 57 trials 7 / 24 / 15 / 1 | 81 drugs [ 36 drugs ] | 17 genes 149 pathways | 約6,000人 | Biobank |
| 36 | 表皮水疱症 "Epidermolysis bullosa", "Kindler syndrome" | 80 trials 26 / 51 / 11 / 2 | 118 drugs [ 31 drugs ] | 27 genes 94 pathways | 347人 | Biobank |
| 37 | 膿疱性乾癬（汎発型） "Generalised pustular psoriasis", "Pustular psoriasis", "Herpetic impetigo" | 29 trials 1 / 7 / 16 / 2 | 34 drugs [ 15 drugs ] | 16 genes 88 pathways | 2,072人 | |
| 38 | スティーヴンス・ジョンソン症候群 "Stevens-Johnson syndrome", "Mucocutaneous ocular syndrome" | 10 trials 5 / 6 / 2 / 1 | 14 drugs [ 8 drugs ] | 9 genes 92 pathways | 約1,500人 | |
| 39 | 中毒性表皮壊死症 "Toxic epidermal necrolysis", "Toxic epidermal necrosis" | 11 trials 4 / 6 / 2 / 1 | 17 drugs [ 9 drugs ] | 11 genes 97 pathways | 約200人 | |
| 40 | 高安動脈炎 "Takayasu arteritis", "Aortitis syndrome", "Pulseless disease" | 16 trials 0 / 3 / 4 / 0 | 23 drugs [ 16 drugs ] | 16 genes 94 pathways | 約7,000人 | Biobank |
| 41 | 巨細胞性動脈炎 "Giant cell arteritis", "Temporal arteritis" | 46 trials 4 / 16 / 20 / 3 | 77 drugs [ 31 drugs ] | 32 genes 118 pathways | 約700人（研究班による） | |
| 42 | 結節性多発動脈炎 "Polyarteritis nodosa" | 9 trials 0 / 4 / 1 / 2 | 22 drugs [ 15 drugs ] | 23 genes 48 pathways | 9,610人（顕微鏡的多発血管炎との合計） | |
| 43 | 顕微鏡的多発血管炎 "Microscopic polyangiitis" | 40 trials 1 / 15 / 19 / 5 | 51 drugs [ 19 drugs ] | 13 genes 79 pathways | 9,610人（結節性多発動脈炎との合計） | |
| 44 | 多発血管炎性肉芽腫症 "Wegener granulomatosis", "Multiple vasculitis granulomatous disease", "Granulomatosis with polyangiitis" | 40 trials 1 / 14 / 19 / 4 | 57 drugs [ 22 drugs ] | 13 genes 34 pathways | 1,942人 | |
| 45 | 好酸球性多発血管炎性肉芽腫症 "Eosinophilic granulomatosis with Polyangiitis", "EGPA", "Eosinophilic multiple vasculitis granulomatous disease", "Allergic granulomatous angiitis", "Churg-Strauss syndrome" | 26 trials 4 / 8 / 10 / 3 | 32 drugs [ 20 drugs ] | 18 genes 93 pathways | 約1,800人（研究班による） | |
| 46 | 悪性関節リウマチ "Malignant rheumatoid arthritis", "Rheumatoid arthritis", "Rheumatoid arthritis with vasculitis" | 1,999 trials 268 / 519 / 478 / 287 | 1,752 drugs [ 321 drugs ] | 172 genes 213 pathways | 6,255人 | |
| 47 | バージャー病 "Buerger disease", "Thromboangiitis obliterans" | 8 trials 0 / 3 / 0 / 0 | 11 drugs [ 7 drugs ] | 3 genes 13 pathways | 7,109人 | Biobank |
| 48 | 原発性抗リン脂質抗体症候群 "Primary antiphospholipid syndrome", "Primary antiphospholipid antibody syndrome" | 3 trials 0 / 0 / 1 / 0 | 2 drugs [ 1 drug ] | - | 約10,000人（研究班による） | |
| 49 | 全身性エリテマトーデス "Systemic lupus erythematosus" | 429 trials 99 / 171 / 79 / 35 | 477 drugs [ 150 drugs ] | 110 genes 185 pathways | 60,122人 | Animal model |
| 50 | 皮膚筋炎／多発性筋炎 "Dermatomyositis", "Polymyositis" | 84 trials 10 / 31 / 21 / 4 | 124 drugs [ 38 drugs ] | 47 genes 139 pathways | 約19,500人 | Biobank |
| 51 | 全身性強皮症 "Systemic scleroderma", "Systemic sclerosis" | 237 trials 36 / 107 / 48 / 14 | 287 drugs [ 98 drugs ] | 89 genes 197 pathways | 最新の患者数は不明であるが、約２万人程度と推定される。 | Biobank |
| 52 | 混合性結合組織病 "Mixed connective tissue disease" | 3 trials 0 / 1 / 1 / 0 | 4 drugs [ 3 drugs ] | 1 gene 1 pathway | 11,005人 | |
| 53 | シェーグレン症候群 "Sjogren syndrome", "Sjögren syndrome" | 130 trials 21 / 63 / 15 / 15 | 158 drugs [ 64 drugs ] | 45 genes 170 pathways | 約66,300人（研究班による） | Biobank |
| 54 | 成人スチル病 "Adult still disease", "Adult-onset Stills disease" | 2 trials 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 11 pathways | 約4,800人（研究班による） | |
| 55 | 再発性多発軟骨炎 "Relapsing polychondritis" | 6 trials 1 / 2 / 0 / 0 | 7 drugs [ 7 drugs ] | 10 genes 54 pathways | 約500人（研究班による） | |
| 56 | ベーチェット病 "Behcet disease", "Behçet disease" | 41 trials 5 / 15 / 10 / 3 | 63 drugs [ 22 drugs ] | 33 genes 101 pathways | 20,035人 | |
| 57 | 特発性拡張型心筋症 "Idiopathic dilated cardiomyopathy" | 12 trials 3 / 5 / 1 / 3 | 23 drugs [ 11 drugs ] | 9 genes 31 pathways | 27,968人 | Biobank Animal model |
| 58 | 肥大型心筋症 "Hypertrophic cardiomyopathy" | 55 trials 4 / 24 / 11 / 9 | 70 drugs [ 31 drugs ] | 31 genes 137 pathways | 4,667人 | Biobank |
| 59 | 拘束型心筋症 "Restricted cardiomyopathy", "Restrictive cardiomyopathy", "Constrictive cardiomyopathy" | - | - | - | 50人 | |
| 60 | 再生不良性貧血 "Aplastic anemia" | 184 trials 42 / 114 / 21 / 11 | 212 drugs [ 61 drugs ] | 35 genes 136 pathways | 10,287人 | |
| 61 | 自己免疫性溶血性貧血 "Autoimmune hemolytic anemia", "AIHA", "Cold agglutinin disease", "Paroxysmal cold hemoglobinuria" | 40 trials 3 / 16 / 14 / 3 | 51 drugs [ 22 drugs ] | 28 genes 137 pathways | 約2,600人 | |
| 62 | 発作性夜間ヘモグロビン尿症 "Paroxysmal nocturnal hemoglobinuria" | 80 trials 8 / 39 / 28 / 2 | 68 drugs [ 26 drugs ] | 14 genes 83 pathways | 約400人 | |
| 63 | 特発性血小板減少性紫斑病 "Idiopathic thrombocytopenic purpura", "Primary immune thrombocytopenia" | 127 trials 15 / 31 / 54 / 15 | 127 drugs [ 32 drugs ] | 40 genes 112 pathways | 24,956人 | |
| 64 | 血栓性血小板減少性紫斑病 "Thrombotic thrombocytopenic purpura", "Upshaw-Schulman syndrome" | 35 trials 3 / 16 / 12 / 3 | 55 drugs [ 16 drugs ] | 13 genes 50 pathways | 年間約500人発症（推計） | Animal model |
| 65 | 原発性免疫不全症候群 "Primary 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", "Telangiectasia ataxia", "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", "IMyD88 deficiency", "Chronic mucocutaneous candidiasis", "Epidermodysplasia verruciformis", "Herpes simplex encephalitis", "Caspase recruitment domain family member 9 deficiency", "CARD9 deficiency", "Trypanosomiasis", "Congenital complement deficiency", "C1q deficiency", "CC1r deficiency", "CC1s deficiency", "CC2 deficiency", "CC3 deficiency", "CC4 deficiency", "CC5 deficiency", "CC6 deficiency", "CC7 deficiency", "CC8 deficiency", "CC9 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", "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" | 273 trials 81 / 116 / 79 / 16 | 388 drugs [ 87 drugs ] | 70 genes 189 pathways | 1,383人 | Animal model |
| 66 | IgA腎症 "IgA nephropathy", "IgA nephritis", "Berger disease", "IgA-IgG nephropathy" | 125 trials 3 / 27 / 30 / 24 | 151 drugs [ 51 drugs ] | 30 genes 111 pathways | 約33,000人（研究班による） | Biobank Animal model |
| 67 | 多発性嚢胞腎 "Polycystic kidney" | 99 trials 7 / 37 / 39 / 6 | 110 drugs [ 42 drugs ] | 28 genes 133 pathways | 約31,000人（研究班による） | Animal model |
| 68 | 黄色靱帯骨化症 "Ossification of the ligamentum flavum", "Ossification of ligamentum flavum" | 1 trial 0 / 0 / 0 / 0 | 3 drugs [ 3 drugs ] | 1 gene 3 pathways | 2，360人 | |
| 69 | 後縦靱帯骨化症 "Ossification of posterior longitudinal ligament" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | - | 33,346人 | |
| 70 | 広範脊柱管狭窄症 "Spinal stenosis", "Extensive spinal canal stenosis" | 69 trials 2 / 9 / 5 / 20 | 104 drugs [ 42 drugs ] | 56 genes 80 pathways | 5,944人 | |
| 71 | 特発性大腿骨頭壊死症 "Idiopathic osteonecrosis of the femoral head", "Idiopathic femoral head necrosis" | 2 trials 0 / 1 / 0 / 0 | 3 drugs [ 3 drugs ] | 3 genes 7 pathways | 15,388人 | |
| 72 | 下垂体性ADH分泌異常症 "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" | 23 trials 1 / 5 / 10 / 0 | 16 drugs [ 4 drugs ] | 2 genes 4 pathways | ［告示番号72-78計］17,069人 | |
| 73 | 下垂体性TSH分泌亢進症 "TSH-secreting pituitary adenoma", "Pituitary TSH secretion hyperthyroidism" | 1 trial 0 / 0 / 1 / 0 | 3 drugs [ 2 drugs ] | - | ［告示番号72-78計］17,069人 | |
| 74 | 下垂体性PRL分泌亢進症 "Prolactin secreting pituitary adenoma", "Pituitary PRL secretion hyperthyroidism", "Prolactinoma", "Prolactin secreting adenoma" | 15 trials 3 / 5 / 1 / 2 | 25 drugs [ 10 drugs ] | 16 genes 62 pathways | ［告示番号72-78計］17,069人 | |
| 75 | クッシング病 "Cushing disease", "Cushing" | 77 trials 6 / 26 / 24 / 5 | 106 drugs [ 41 drugs ] | 33 genes 105 pathways | ［告示番号72-78計］17,069人 | |
| 76 | 下垂体性ゴナドトロピン分泌亢進症 "Pituitary gonadotropin secretion hyperthyroidism", "Gonadotropin secreting pituitary adenoma", "Central precocious puberty", "Gonadotropin producing pituitary adenoma" | 20 trials 0 / 0 / 10 / 8 | 32 drugs [ 7 drugs ] | 2 genes 6 pathways | ［告示番号72-78計］17,069人 | |
| 77 | 下垂体性成長ホルモン分泌亢進症 "Growth hormone secreting pituitary adenoma", "Pituitary growth hormone secretion hyperthyroidism" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 2 genes 19 pathways | ［告示番号72-78計］17,069人 | |
| 78 | 下垂体前葉機能低下症 "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", "Prolactin deficiency", "PRL deficiency" | 244 trials 20 / 49 / 58 / 35 | 222 drugs [ 44 drugs ] | 44 genes 78 pathways | ［告示番号72-78計］17,069人 | |
| 79 | 家族性高コレステロール血症（ホモ接合体） "Homozygous familial hypercholesterolemia" | 54 trials 3 / 20 / 29 / 1 | 69 drugs [ 24 drugs ] | 6 genes 14 pathways | 140人 | |
| 80 | 甲状腺ホルモン不応症 "Resistance to thyroid hormone", "Syndrome of resistance to thyroid hormone", "Thyroid hormone insensitivity syndrome", "Refetoff syndrome" | - | - | - | 約3,000人（研究班による） | |
| 81 | 先天性副腎皮質酵素欠損症 "Congenital adrenal hyperplasia", "Congenital adrenal enzyme deficiency", "Congenial adrenal cortex enzyme deficiency", "Congenital Lipoid Adrenal Hyperplasia", "3β-Hydroxysteroid Dehydrogenase Deficiency", "21-Hydroxylase deficiency", "11β-Hydroxylase deficiency", "17α-Hydroxylase deficiency", "Aldosterone synthase deficiency", "P450 oxidoreductase deficiency" | 40 trials 9 / 17 / 11 / 1 | 58 drugs [ 21 drugs ] | 11 genes 63 pathways | 約1,800人 | |
| 82 | 先天性副腎低形成症 "Congenital adrenal hypoplasia", "DAX-1 deficiency", "Steroidogenic factor-1 deficiency", "SF-1 deficiency", "SF-1/Ad4BP deficiency", "IMAGe syndrome" | - | - | - | 約1,000人 | |
| 83 | アジソン病 "Addison disease", "Primary chronic adrenocortical insufficiency", "Autoimmune polyglandular syndrome", "Hypoparathyroidism-Addison-Monilia syndrome", "HAM syndrome", "Schmidt syndrome" | 17 trials 1 / 4 / 2 / 1 | 27 drugs [ 13 drugs ] | 6 genes 17 pathways | 約1,000人（研究班による） | |
| 84 | サルコイドーシス "Sarcoidosis" | 106 trials 10 / 44 / 18 / 17 | 161 drugs [ 74 drugs ] | 81 genes 138 pathways | 26,763人 | |
| 85 | 特発性間質性肺炎 "Idiopathic interstitial pneumonia", "Idiopathic pulmonary fibrosis", "Usual interstitial pneumonia", "Non-specific interstitial pneumonia", "NSIP", "Organizing pneumonia", "Desquamative interstitial pneumonia", "Respiratory bronchiolitis - associated interstitial lung disease", "RB-ILD", "Lymphocytic interstitial pneumonia", "Acute interstitial pneumonia", "Diffuse alveolar damage" | 257 trials 46 / 105 / 52 / 13 | 256 drugs [ 93 drugs ] | 76 genes 182 pathways | 約 15,000人以上（平成26年度医療受給者証保持者数；8,846人） | Biobank |
| 86 | 肺動脈性肺高血圧症 "Pulmonary arterial hypertension", "Eisenmenger Syndrome" | 505 trials 58 / 132 / 141 / 68 | 433 drugs [ 113 drugs ] | 91 genes 178 pathways | 2,299人 | |
| 87 | 肺静脈閉塞症／肺毛細血管腫症 "Pulmonary veno-occlusive disease", "Pulmonary capillary hemangiomatosis", "PVOD" | 3 trials 1 / 1 / 0 / 0 | 4 drugs [ 3 drugs ] | 4 genes 44 pathways | 約100人 | |
| 88 | 慢性血栓塞栓性肺高血圧症 "Chronic thromboembolic pulmonary hypertension", "CTEPH", "Idiopathic chronic pulmonary thromboembolism" | 49 trials 2 / 16 / 15 / 1 | 54 drugs [ 23 drugs ] | 10 genes 24 pathways | 1,810人 | Biobank Animal model |
| 89 | リンパ脈管筋腫症 "Lymphangioleiomyomatosis" | 30 trials 8 / 16 / 5 / 1 | 28 drugs [ 17 drugs ] | 26 genes 126 pathways | 689人 | |
| 90 | 網膜色素変性症 "Retinitis pigmentosa", "Rod dystrophy", "Rod-Cone Dystrophy" | 78 trials 37 / 44 / 10 / 0 | 104 drugs [ 36 drugs ] | 50 genes 112 pathways | 27,158人 | Biobank |
| 91 | バッド・キアリ症候群 "Budd-Chiari syndrome" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 7 pathways | 293人 | |
| 92 | 特発性門脈圧亢進症 "Idiopathic portal hypertension", "Banti syndrome" | - | - | - | 約1,000人 | |
| 93 | 原発性胆汁性胆管炎 "Primary biliary cholangitis", "Primary biliary cirrhosis" | 114 trials 14 / 53 / 24 / 9 | 136 drugs [ 42 drugs ] | 27 genes 78 pathways | 19,701人 | |
| 94 | 原発性硬化性胆管炎 "Primary sclerosing cholangitis" | 68 trials 21 / 32 / 10 / 1 | 72 drugs [ 31 drugs ] | 17 genes 121 pathways | 約400人 | |
| 95 | 自己免疫性肝炎 "Autoimmune hepatitis" | 27 trials 4 / 10 / 3 / 7 | 40 drugs [ 23 drugs ] | 16 genes 100 pathways | 約10,000人 | |
| 96 | クローン病 "Crohn disease", "Terminal ileitis" | 890 trials 117 / 270 / 234 / 116 | 832 drugs [ 211 drugs ] | 161 genes 201 pathways | 36,418人 | |
| 97 | 潰瘍性大腸炎 "Ulcerative colitis" | 820 trials 107 / 277 / 234 / 80 | 887 drugs [ 195 drugs ] | 108 genes 166 pathways | 143,733人 | |
| 98 | 好酸球性消化管疾患 "Eosinophilic gastrointestinal disease", "Eosinophilic gastroenteritis", "Eosinophilic esophagitis", "Eosinophilic colitis", "Eosinophilic gastro-intestinal disorder", "EGID", "Neonatal food-protein induced enterocolitis", "N-FPIES" | 78 trials 10 / 39 / 17 / 5 | 85 drugs [ 33 drugs ] | 31 genes 123 pathways | 約5,000人（研究班による） | |
| 99 | 慢性特発性偽性腸閉塞症 "Chronic intestinal pseudo-obstruction", "Chronic idiopathic pseudo-bowel obstruction" | 2 trials 0 / 2 / 0 / 0 | 6 drugs [ 1 drug ] | - | 小児例100人、成人例1,300人 | |
| 100 | 巨大膀胱短小結腸腸管蠕動不全症 "Megacystis microcolon intestinal hypoperistalsis syndrome", "Huge bladder short and small colon intestinal peristalsis deficiency" | - | - | - | 100人未満（研究班による） | |
| 101 | 腸管神経節細胞僅少症 "Congenital isolated hypoganglionosis", "Intestinal ganglion cells insignificant disease" | - | - | - | 約100人（研究班による） | |
| 102 | ルビンシュタイン・テイビ症候群 "Rubinstein-Taybi syndrome", "RSTS" | 3 trials 0 / 2 / 0 / 1 | 4 drugs [ 1 drug ] | 7 genes 17 pathways | 約200人（研究班による） | Biobank |
| 103 | CFC症候群 "Cardio-facio-cutaneous syndrome", "CFC syndrome" | - | - | - | 約200人（研究班による。） | |
| 104 | コステロ症候群 "Costello syndrome" | - | - | - | 約100人（研究班による） | |
| 105 | チャージ症候群 "CHARGE syndrome" | - | - | - | 約5,000人（研究班による。） | |
| 106 | クリオピリン関連周期熱症候群 "Cryopyrin-associated periodic syndrome", "Cryopyrin associated periodic fever syndrome", "Familial cold autoinflammatory syndrome", "FCAS", "Mucke-Wells syndrome", "Chronic infantile neurologic cutaneous, and articular syndrome", "CINCA syndrome", "Neonatal onset multisystem inflammatory disease", "NOMID" | 15 trials 3 / 3 / 6 / 0 | 13 drugs [ 4 drugs ] | 4 genes 44 pathways | 約100人（研究班による） | |
| 107 | 若年性特発性関節炎 "Systemic juvenile idiopathic arthritis", "Systemic-onset juvenile idiopathic arthritis" | 45 trials 6 / 11 / 14 / 5 | 39 drugs [ 10 drugs ] | 13 genes 80 pathways | 約8,000人 | |
| 108 | TNF受容体関連周期性症候群 "TNF receptor-associated periodic syndrome" | 2 trials 0 / 0 / 1 / 0 | 4 drugs [ 1 drug ] | 1 gene 40 pathways | 100人未満（研究班による） | |
| 109 | 非典型溶血性尿毒症症候群 "Atypical hemolytic uremic syndrome" | 23 trials 0 / 15 / 6 / 1 | 17 drugs [ 3 drugs ] | 1 gene 7 pathways | 200人未満（研究班による） | |
| 110 | ブラウ症候群 "Blau syndrome", "Early-onset sarcoidosis", "Systemic granulomatous diseases" | - | - | - | 100人未満（研究班による） | |
| 111 | 先天性ミオパチー "Congenital myopathy", "Nemaline myopathy", "Central core disease", "Minicore myopathy", "Myotubular myopathy", "Centronuclear myopathy", "Congenital fiber-type disproportion myopathy" | 5 trials 4 / 5 / 0 / 0 | 7 drugs [ 2 drugs ] | - | 約1,000人 | Biobank |
| 112 | マリネスコ・シェーグレン症候群 "Marinesco-Sjogren syndrome", "Hereditary cerebellar ataxia-childhood cataracts" | - | - | - | 100人未満 | Biobank |
| 113 | 筋ジストロフィー "Muscular dystrophy", "Dystrophinopathies", "Myotilinopathy", "Laminopathy", "Caveolinopathy", "LGMD1C", "Desminopathy", "Sarcoglycanopathy", "α-dystroglycanopathy", "FCMD", "Walker-Warburg syndrome", "Muscle-eye-brain disease", "Myotonic dystrophy", "Integrin α7 deficient CMD", "Rigid spine syndrome" | 289 trials 94 / 148 / 68 / 6 | 306 drugs [ 83 drugs ] | 57 genes 156 pathways | 約25,400人 | Biobank Animal model |
| 114 | 非ジストロフィー性ミオトニー症候群 "Non-dystrophic myotonia syndrome", "Non-dystrophic Myotonia", "Myotonia congenita", "Paramyotonia congenita", "Thomsen disease", "Becker disease", "Sodium channel myotonia" | 6 trials 1 / 1 / 3 / 0 | 5 drugs [ 4 drugs ] | 18 genes 10 pathways | 約1,000人 | |
| 115 | 遺伝性周期性四肢麻痺 "Hereditary periodic paralysis", "Hereditary Hypokalemic Periodic Paralysis", "Hereditary Hyperkalemic Periodic Paralysis", "Andersen-Tawil syndrome" | 1 trial 1 / 0 / 0 / 0 | 2 drugs [ 2 drugs ] | 13 genes 7 pathways | 約1,000人 | |
| 116 | アトピー性脊髄炎 "Atopic myelitis", "Idiopathic eosinophilic myelitis" | - | - | - | 約1,000人 | |
| 117 | 脊髄空洞症 "Syringomyelia" | 2 trials 0 / 2 / 0 / 0 | 4 drugs [ - ] | - | 約3,000人 | |
| 118 | 脊髄髄膜瘤 "Myelomeningocele", "Myeloschisis", "Myelocele", "Myelocystocele", "Syringomyelocele" | 1 trial 0 / 0 / 0 / 1 | 1 drug [ - ] | - | 分娩10,000件あたり5.0〜6.0件の発生率。年間500〜600名の患児が出生している。 | |
| 119 | アイザックス症候群 "Isaacs syndrome", "Morvan syndrome", "Morvan fibrillary chorea", "Anti-VGKC antibody-associated limbic encephalitis" | - | - | - | 約100人 | |
| 120 | 遺伝性ジストニア "Hereditary dystonia", "DYT1 dystonia", "DYT2 dystonia", "DYT3 dystonia", "X-linked dystonia-parkinsonism", "Lubag", "DYT4 dystonia", "DYT5 dystonia", "Segawa syndrome", "Dopa-responsive dystonia", "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", "DYT10 dystonia", "Episodic kinesigenic dyskinesia 1", "EKD1", "DYT11 dystonia", "Myoclonus-dystonia syndrome", "DYT12 dystonia", "Rapid-onset dystonia-parkinsonism", "Alternating hemiplegia of childhood", "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "CAPOS", "DYT13 dystonia", "DYT14 dystonia", "DYT15 dystonia", "DYT16 dystonia", "DYT17 dystonia", "DYT18 dystonia", "Paroxysmal execise-induced dyskinesia", "DYT19 dystonia", "Episodic kinesigenic dyskinesia 2", "DYT20 dystonia", "Paroxysmal nonkinesigenic dyskinesia 2", "PNKD2", "Neurodegeneration with Brain Iron Accumulation 1", "Pantothenate kinase-associated neurodegeneration", "PKAN", "NBIA1", "Hallervorden-Spatz syndrome", "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, pallidal degeneration", "Neurodegeneration with Brain Iron Accumulation 2", "Infantile neuroaxonal dystrophy", "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", "Dysmyelinating leukodystrophy and spastic paraparasis with or without dystonia, spastic paraplegia 35" | 15 trials 2 / 4 / 7 / 1 | 17 drugs [ 6 drugs ] | 2 genes 2 pathways | 約500人 | |
| 121 | 神経フェリチン症 "Neuroferritinopathy" | - | - | - | 100人未満 | |
| 122 | 脳表ヘモジデリン沈着症 "Superficial siderosis", "Brain table hemosiderosis" | 2 trials 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | - | 100人未満 | |
| 123 | 禿頭と変形性脊椎症を伴う常染色体劣性白質脳症 "Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy", "Cerebral autosomal recessive arteriopathy with baldness and degenerative spondylosis", "Autosomal recessive leukoencephalopathy with baldness and degenerative spondylosis", "Cerebral autosomal recessive arteriopathy", "Autosomal recessive leukoencephalopathy" | - | - | - | 100人未満 | |
| 124 | 皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症 "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy", "Autosomal dominant cerebral artery disease with subcortical infarct and leukoencephalopathy", "Autosomal dominant cerebral artery disease" | 2 trials 0 / 1 / 0 / 0 | 7 drugs [ 2 drugs ] | 1 gene 2 pathways | 約200人 | |
| 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 "Hereditary diffuse leukoencephalopathy with spheroid", "Hereditary diffuse leukoencephalopathy" | - | - | - | 100人未満 | |
| 126 | ペリー症候群 "Perry syndrome" | - | - | - | 100人未満 | |
| 127 | 前頭側頭葉変性症 "Frontotemporal lobar degeneration", "Frontotemporal dementia", "Semantic dementia" | 44 trials 7 / 14 / 5 / 5 | 54 drugs [ 21 drugs ] | 24 genes 46 pathways | 約12,000人 | |
| 128 | ビッカースタッフ脳幹脳炎 "Bickerstaff brainstem encephalitis" | - | - | - | 発症者は約100人/年 | |
| 129 | 痙攣重積型（二相性）急性脳症 "Acute encephalopathy with biphasic seizures and late reduced diffusion", "Epilepticus type biphasic acute encphalopathy", "Epilepticus type acute encphalopathy" | - | - | - | 約2,000〜7,800人 （罹病率：１年あたり100〜200人） | |
| 130 | 先天性無痛無汗症 "Congenital insensitivity to pain with anhydrosis", "CIPA", "Hereditary sensory and autonomic neuropathy type IV", "HSAN4", "Hereditary sensory and autonomic neuropathy type V", "HSAN5" | 1 trial 1 / 0 / 0 / 0 | 9 drugs [ 7 drugs ] | 4 genes 34 pathways | 約200〜300人 | |
| 131 | アレキサンダー病 "Alexander disease" | - | - | - | 100人未満 | |
| 132 | 先天性核上性球麻痺 "Congenital supranuclear bulbar palsy", "Congenital suprabulbar paresis", "Worcester drought syndrome", "Worster-Drought syndrome" | - | - | - | 約100人 | |
| 133 | メビウス症候群 "Moebius syndrome", "Mobius syndrome" | - | - | - | 約1,000人 | |
| 134 | 中隔視神経形成異常症/ドモルシア症候群 "Septo-optic dysplasia", "De Morsier syndrome" | 1 trial 0 / 0 / 0 / 1 | 1 drug [ - ] | - | 約500人 | |
| 135 | アイカルディ症候群 "Aicardi syndrome" | 1 trial 0 / 1 / 0 / 0 | 9 drugs [ 3 drugs ] | - | 100人未満 | |
| 136 | 片側巨脳症 "Hemimegalencephaly", "Unilateral megalencephaly" | - | - | - | 100人未満 | |
| 137 | 限局性皮質異形成 "Focal cortical dysplasia" | 6 trials 0 / 4 / 0 / 0 | 4 drugs [ 2 drugs ] | 1 gene 43 pathways | 数千人程度 | |
| 138 | 神経細胞移動異常症 "Nerve cell migration disorder", "Lissencephaly", "Neuronal migration defect", "Ectopic gray matter", "Polymicrogyria", "Cortical dysplasia with cobblestone appearance", "Schizencephaly", "Porencephaly", "Miller-Dieker syndrome" | - | - | - | 約1,000人 | |
| 139 | 先天性大脳白質形成不全症 "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", "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" | 5 trials 2 / 2 / 0 / 0 | 4 drugs [ 1 drug ] | - | 約200人 | |
| 140 | ドラベ症候群 "Dorabe syndrome", "Dravet syndrome" | 34 trials 5 / 10 / 16 / 1 | 27 drugs [ 8 drugs ] | 42 genes 53 pathways | 約3,000人 | |
| 141 | 海馬硬化を伴う内側側頭葉てんかん "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" | - | - | - | 約5,000人 | |
| 142 | ミオクロニー欠神てんかん "Myoclonic absence epilepsy" | - | - | - | 100人未満 | |
| 143 | ミオクロニー脱力発作を伴うてんかん "Epilepsy with myoclonic-atonic seizure", "Epilepsy with myoclonic cataplexy" | - | - | - | 100人未満 | |
| 144 | レノックス・ガストー症候群 "Lennox-Gastaut syndrome" | 41 trials 4 / 7 / 24 / 2 | 43 drugs [ 10 drugs ] | 49 genes 55 pathways | ［告示番号144-148計］約4,300人 | |
| 145 | ウエスト症候群 "West syndrome", "Infantile spasm" | 27 trials 0 / 7 / 10 / 6 | 40 drugs [ 12 drugs ] | 21 genes 19 pathways | ［告示番号144-148計］約4,300人 | |
| 146 | 大田原症候群 "Ohtahara syndrome", "Early infantile epileptic encephalopathy with suppression burst" | - | - | - | ［告示番号144-148計］約4,300人 | |
| 147 | 早期ミオクロニー脳症 "Early myoclonic encephalopathy" | - | - | - | ［告示番号144-148計］約4,300人 | |
| 148 | 遊走性焦点発作を伴う乳児てんかん "Epilepsy of infancy with migrating focal seizure", "Infant epilepsy with migratory focus seizure", "Migrating partial seizures in infancy", "Infant epilepsy" | - | - | - | ［告示番号144-148計］約4,300人 | |
| 149 | 片側痙攣・片麻痺・てんかん症候群 "Hemiconvulsion hemiplegia epilepsy syndrome", "One side convulsions", "Hemiplegia", "Epilepsy syndrome" | 16 trials 2 / 4 / 6 / 1 | 22 drugs [ 10 drugs ] | 6 genes 10 pathways | 100人未満 | |
| 150 | 環状20番染色体症候群 "Ring chromosome 20 epilepsy syndrome", "Ring chromosome 20 syndrome" | - | - | - | 100人未満 | |
| 151 | ラスムッセン脳炎 "Rasmussen encephalitis" | 2 trials 0 / 1 / 1 / 0 | 3 drugs [ 2 drugs ] | 6 genes 80 pathways | 100人未満 | |
| 152 | ＰＣＤＨ19関連症候群 "PCDH19 related syndrome", "PCDH19 Epilepsy", "Epilepsy and mental retardation limited to females", "PCDH19 female pediatric epilepsy", "PCDH19-related epilepsy", "Protocadherin 19 (PCDH19)-related epilepsy" | 3 trials 0 / 1 / 1 / 0 | 5 drugs [ 1 drug ] | 16 genes 7 pathways | 100人未満 | |
| 153 | 難治頻回部分発作重積型急性脳炎 "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" | - | - | - | 約100人 | |
| 154 | 徐波睡眠期持続性棘徐波を示すてんかん性脳症 "Epilepsy with continuous spikes and waves during slow sleep", "Epileptic encephalopathy with continuous spike-and-wave during sleep" | - | - | - | ［告示番号154-155計］約400人（徐波睡眠期持続性棘徐波を示すてんかん性脳症及びランドウ・クレフナー症候群の総数） | |
| 155 | ランドウ・クレフナー症候群 "Acquired aphasia with convulsive disorder", "Landau-Kleffner syndrome" | 1 trial 0 / 1 / 1 / 0 | 2 drugs [ 2 drugs ] | 29 genes 14 pathways | ［告示番号154-155計］約400人（徐波睡眠期持続性棘徐波を示すてんかん性脳症及びランドウ・クレフナー症候群の総数） | |
| 156 | レット症候群 "Rett syndrome" | 27 trials 3 / 19 / 4 / 0 | 34 drugs [ 16 drugs ] | 69 genes 105 pathways | 約1,000人 | Animal model |
| 157 | スタージ・ウェーバー症候群 "Sturge-Weber syndrome", "Síndrome de Sturge-Weber" | 6 trials 3 / 3 / 1 / 0 | 9 drugs [ 4 drugs ] | 5 genes 55 pathways | 約1,000人 | |
| 158 | 結節性硬化症 "Tuberous sclerosis", "Tuberous sclerosis complex" | 54 trials 8 / 28 / 18 / 5 | 37 drugs [ 14 drugs ] | 19 genes 106 pathways | 約4,000〜12,000人 | Biobank |
| 159 | 色素性乾皮症 "Xeroderma pigmentosum" | 4 trials 0 / 1 / 1 / 0 | 8 drugs [ 2 drugs ] | 2 genes 8 pathways | 約300〜600人 | Biobank |
| 160 | 先天性魚鱗癬 "Congenital ichthyosis", "Keratinopathic ichthyosis", "Epidermolytic ichthyosis", "Harlequin 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" | 21 trials 4 / 9 / 3 / 1 | 31 drugs [ 10 drugs ] | 12 genes 96 pathways | 約200人 | Biobank |
| 161 | 家族性良性慢性天疱瘡 "Familial benign chronic pemphigus", "Benign familial pemphigus", "Hailey-Hailey disease" | 4 trials 2 / 2 / 0 / 0 | 7 drugs [ 1 drug ] | 1 gene 20 pathways | 約300人 | |
| 162 | 類天疱瘡（後天性表皮水疱症を含む。） "Pemphigoid", "Epidermolysis bullosa acquisita" | 49 trials 9 / 18 / 6 / 4 | 72 drugs [ 35 drugs ] | 23 genes 118 pathways | 約7,100人（類天疱瘡：約6,850人、後天性表皮水疱症：約250人） | |
| 163 | 特発性後天性全身性無汗症 "Idiopathic pure sudomotor failure", "Idiopathic acquired systemic anhidrosis", "Acquired idiopathic generalized anhidrosis", "AIGA", "Idiopathic segmental anhidrosis", "IPSF", "Sweat gland failure" | - | - | - | 約100人〜200人 | |
| 164 | 眼皮膚白皮症 "Oculocutaneous albinism", "Hermansky-Pudlak syndrome", "Chediak-Higashi syndrome", "Griscelli syndrome" | 14 trials 3 / 8 / 1 / 0 | 54 drugs [ 36 drugs ] | 34 genes 132 pathways | 約5,000人 （2,800〜11,200人） | |
| 165 | 肥厚性皮膚骨膜症 "Pachydermoperiostosis" | - | - | - | 100人未満 | |
| 166 | 弾性線維性仮性黄色腫 "Pseudoxanthoma elasticum" | 9 trials 1 / 7 / 2 / 0 | 17 drugs [ 5 drugs ] | 5 genes 25 pathways | 約300人 | |
| 167 | マルファン症候群 "Marfan syndrome" | 14 trials 0 / 2 / 7 / 0 | 28 drugs [ 10 drugs ] | 10 genes 45 pathways | 約15,000〜20,000人 | Biobank |
| 168 | エーラス・ダンロス症候群 "Ehlers-Danlos syndrome" | 7 trials 0 / 1 / 2 / 1 | 14 drugs [ 10 drugs ] | 17 genes 53 pathways | 約20,000人 | Biobank Animal model |
| 169 | メンケス病 "Menkes disease" | 5 trials 1 / 1 / 1 / 1 | 5 drugs [ 4 drugs ] | - | 100人未満 | Biobank |
| 170 | オクシピタル・ホーン症候群 "Occipital horn syndrome" | 1 trial 0 / 0 / 1 / 0 | 3 drugs [ 3 drugs ] | - | 100人未満 | |
| 171 | ウィルソン病 "Wilson disease" | 25 trials 2 / 4 / 11 / 3 | 29 drugs [ 15 drugs ] | - | 約3,000人 | Biobank |
| 172 | 低ホスファターゼ症 "Hypophosphatasia" | 22 trials 4 / 15 / 2 / 2 | 12 drugs [ 5 drugs ] | 3 genes 5 pathways | 約100〜200人 | |
| 173 | VATER症候群 "VATER syndrome", "VATER association", "VACTERL association" | - | - | - | 約500名 | |
| 174 | 那須・ハコラ病 "Nasu-Hakola disease", "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy", "PLOSL" | - | - | - | 約200人 | |
| 175 | ウィーバー症候群 "Weaver syndrome" | - | - | - | 100人未満 | |
| 176 | コフィン・ローリー症候群 "Coffin-Lowry syndrome" | - | - | - | 数万人に１人 | |
| 177 | ジュベール症候群関連疾患 "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 [ - ] | - | 100人未満 | |
| 178 | モワット・ウィルソン症候群 "Mowat-Wilson syndrome" | - | - | - | 約1,000人 | |
| 179 | ウィリアムズ症候群 "Williams syndrome" | 4 trials 0 / 0 / 0 / 1 | 12 drugs [ 7 drugs ] | 8 genes 29 pathways | 発生頻度は２万人に１人 | |
| 180 | ＡＴＲ－Ｘ症候群 "ATR-X syndrome", "Alpha-thalassemia mental retardation syndrome" | - | - | - | 100人未満 | |
| 181 | クルーゾン症候群 "Crouzon syndrome" | - | - | - | ［告示番号181-184計］約900人（クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計） | |
| 182 | アペール症候群 "Apert syndrome" | - | - | - | ［告示番号181-184計］約900人（クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計） | |
| 183 | ファイファー症候群 "Pfeiffer syndrome" | - | - | - | ［告示番号181-184計］約900人（クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計） | |
| 184 | アントレー・ビクスラー症候群 "Antley-Bixler syndrome" | - | - | - | ［告示番号181-184計］約900人（クルーゾン症候群、アペール症候群、ファイファー症候群、アントレー・ビクスラー症候群の合計） | |
| 185 | コフィン・シリス症候群 "Coffin-Siris syndrome" | - | - | - | 100人未満 | |
| 186 | ロスムンド・トムソン症候群 "Rothmund-Thomson syndrome", "RAPADILINO syndrome", "Baller-Gerold syndrome" | - | - | - | 100人未満 | |
| 187 | 歌舞伎症候群 "Kabuki syndrome" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 2 genes 11 pathways | 約3,000〜4,000人 | |
| 188 | 多脾症候群 "Polysplenia syndrome" | - | - | - | ［告示番号188-189計］約2,000人（無脾症候群及び多脾症候群の合計。） | |
| 189 | 無脾症候群 "Asplenia syndrome" | - | - | - | ［告示番号188-189計］約2,000人（無脾症候群及び多脾症候群の合計。） | |
| 190 | 鰓耳腎症候群 "Branchio-oto-renal syndrome", "BOR syndrome" | - | - | - | 約300人 | |
| 191 | ウェルナー症候群 "Werner syndrome" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 5 pathways | 約2,000人 | Biobank |
| 192 | コケイン症候群 "Cockayne syndrome" | 4 trials 1 / 3 / 0 / 0 | 7 drugs [ 3 drugs ] | 1 gene 43 pathways | 100人未満 | Biobank |
| 193 | プラダー・ウィリ症候群 "Prader-Willi syndrome" | 72 trials 6 / 25 / 23 / 8 | 77 drugs [ 26 drugs ] | 49 genes 59 pathways | 約 1,000人 | |
| 194 | ソトス症候群 "Sotos syndrome" | - | - | - | 約2,500人 | |
| 195 | ヌーナン症候群 "Noonan syndrome" | 10 trials 0 / 2 / 5 / 0 | 11 drugs [ 4 drugs ] | 2 genes 9 pathways | 約600人 | |
| 196 | ヤング・シンプソン症候群 "Young-Simpson syndrome" | - | - | - | 約100人 | |
| 197 | １p36欠失症候群 "1p36 deletion syndrome" | - | - | - | 約100人 | |
| 198 | ４p欠失症候群 "4p deletion syndrome", "4p-syndrome" | - | - | - | 約1,000人以下 | |
| 199 | ５p欠失症候群 "5p deletion syndrome", "5p-syndrome" | - | - | - | 約1,000人以下（5万出生に１人、おそらく1,000人以下と推定される。） | |
| 200 | 第14番染色体父親性ダイソミー症候群 "Paternal uniparental disomy of chromosome 14", "No. 14 chromosome father disomy syndrome", "Kagami-Ogata syndrome" | - | - | - | 100人未満 | |
| 201 | アンジェルマン症候群 "Angelman syndrome" | 12 trials 2 / 4 / 2 / 0 | 15 drugs [ 7 drugs ] | 22 genes 20 pathways | 500〜1,000人程度 | |
| 202 | スミス・マギニス症候群 "Smith-Magenis syndrome" | 6 trials 2 / 2 / 2 / 0 | 6 drugs [ 3 drugs ] | 2 genes 2 pathways | 100人未満 | |
| 203 | 22q11.2欠失症候群 "22q11.2 deletion syndrome" | 1 trial 1 / 0 / 0 / 0 | 1 drug [ - ] | - | 約4,500人 | |
| 204 | エマヌエル症候群 "Emanuel syndrome", "Derivative 22 syndrome" | - | - | - | 100人未満 | |
| 205 | 脆弱Ｘ症候群関連疾患 "Fragile X syndrome related disease", "Fragile X-associated tremor/ataxia syndrome", "FXTAS" | 3 trials 0 / 2 / 0 / 0 | 3 drugs [ 2 drugs ] | 21 genes 22 pathways | ［告示番号205-206計］100人未満 | |
| 206 | 脆弱Ｘ症候群 "Fragile X syndrome" | 58 trials 9 / 32 / 10 / 3 | 58 drugs [ 25 drugs ] | 44 genes 54 pathways | ［告示番号205-206計］100人未満 | |
| 207 | 総動脈幹遺残症 "Persistent truncus arteriosus" | - | - | - | 約500人 | |
| 208 | 修正大血管転位症 "Corrected transposition of great arteries" | - | - | - | ［告示番号208-209計］約900人（修正大血管転位症及び完全大血管転位症の合計。） | |
| 209 | 完全大血管転位症 "Complete transposition of great vessel", "Complete transposition of great arteries" | - | - | - | ［告示番号208-209計］約900人（修正大血管転位症及び完全大血管転位症の合計。） | |
| 210 | 単心室症 "Single ventricle heart defect", "Complete TGA", "Univentricular heart", "Single ventricular circulation syndrome" | 6 trials 0 / 1 / 3 / 0 | 7 drugs [ 3 drugs ] | 3 genes 11 pathways | ［告示番号210-213計］約3,500人（単心室循環症候群の総数。） | |
| 211 | 左心低形成症候群 "Hypoplastic left heart syndrome", "Single ventricular circulation syndrome" | 16 trials 9 / 7 / 0 / 0 | 16 drugs [ 7 drugs ] | 4 genes 13 pathways | ［告示番号210-213計］約3,500人（単心室循環症候群の総数。） | |
| 212 | 三尖弁閉鎖症 "Tricuspid atresia", "Single ventricular circulation syndrome" | 4 trials 2 / 1 / 0 / 0 | 5 drugs [ 5 drugs ] | 6 genes 5 pathways | ［告示番号210-213計］約3,500人（単心室循環症候群の総数。） | |
| 213 | 心室中隔欠損を伴わない肺動脈閉鎖症 "Pulmonary atresia without ventricular septum defect", "Pulmonary atresia with intact ventricular septum", "Pulmonary atresia", "Single ventricular circulation syndrome" | - | - | - | ［告示番号210-213計］約3,500人（単心室循環症候群の総数。） | |
| 214 | 心室中隔欠損を伴う肺動脈閉鎖症 "Pulmonary atresia with ventricular septum defect", "Pulmonary atresia with ventricular septal defect", "Pulmonary atresia", "Tetralogy of Fallot with severe pulmonary stenosis" | 2 trials 0 / 0 / 0 / 0 | 4 drugs [ 4 drugs ] | - | ［告示番号214-216計］約5,500人（ファロー四徴症類縁疾患の総数。） | |
| 215 | ファロー四徴症 "Tetralogy of Fallot", "Fallot tetralogy" | 14 trials 2 / 3 / 1 / 1 | 16 drugs [ 13 drugs ] | 13 genes 39 pathways | ［告示番号214-216計］約5,500人（ファロー四徴症類縁疾患の総数。） | |
| 216 | 両大血管右室起始症 "Double outlet right ventricle" | - | - | - | ［告示番号214-216計］約5,500人（ファロー四徴症類縁疾患の総数。） | |
| 217 | エプスタイン病 "Ebstein disease", "Ebstein malformation" | - | - | - | 約300人 | |
| 218 | アルポート症候群 "Alport syndrome" | 8 trials 1 / 3 / 3 / 0 | 15 drugs [ 8 drugs ] | 5 genes 25 pathways | 約1,200人 | Animal model |
| 219 | ギャロウェイ・モワト症候群 "Galloway-Mowat syndrome" | - | - | - | 約200人 | |
| 220 | 急速進行性糸球体腎炎 "Rapidly progressive glomerulonephritis" | 2 trials 0 / 1 / 2 / 0 | 4 drugs [ 2 drugs ] | 1 gene 1 pathway | 総患者数約3,800〜5,800人と推計されている。 | Animal model |
| 221 | 抗糸球体基底膜腎炎 "Anti-glomerular basement membrane disease" | 1 trial 0 / 1 / 0 / 0 | 1 drug [ 1 drug ] | - | 約200〜400人 | |
| 222 | 一次性ネフローゼ症候群 "Primary nephrotic syndrome", "Minimal change nephrotic syndrome", "MCNS", "Membranous nephropathy", "Focal segmental glomerulosclerosis", "FSGS", "Membranoproliferative glomerulonephritis", "MPGN" | 152 trials 18 / 50 / 24 / 15 | 167 drugs [ 61 drugs ] | 50 genes 174 pathways | 約16,000人 | |
| 223 | 一次性膜性増殖性糸球体腎炎 "Primary membranoproliferative glomerulonephritis", "Dense deposit disease" | 13 trials 4 / 8 / 1 / 0 | 12 drugs [ 5 drugs ] | 10 genes 38 pathways | 約1,000人 | |
| 224 | 紫斑病性腎炎 "Purpura nephritis" | 7 trials 1 / 3 / 0 / 1 | 31 drugs [ 17 drugs ] | 15 genes 51 pathways | 400例〜640例/年 | |
| 225 | 先天性腎性尿崩症 "Congenital nephrogenic diabetes insipidus", "Hereditary nephrogenic diabetes insipidus", "Nephrogenic diabetes insipidus" | 11 trials 2 / 3 / 0 / 0 | 35 drugs [ 15 drugs ] | 30 genes 61 pathways | 約200人 | |
| 226 | 間質性膀胱炎（ハンナ型） "Interstitial cystitis with Hunners ulcer", "Interstitial cystitis" | 83 trials 8 / 35 / 12 / 8 | 122 drugs [ 44 drugs ] | 54 genes 134 pathways | 約2,000人 | |
| 227 | オスラー病 "Osler disease", "Hereditary hemorrhagic telangiectasia", "Osler-Weber-Rendu disease" | 38 trials 7 / 23 / 6 / 2 | 44 drugs [ 18 drugs ] | 12 genes 106 pathways | 約10,000人 | |
| 228 | 閉塞性細気管支炎 "Bronchiolitis obliterans", "Obliterating bronchiolitis" | 57 trials 8 / 24 / 14 / 6 | 78 drugs [ 34 drugs ] | 33 genes 145 pathways | 約300〜500人 | |
| 229 | 肺胞蛋白症（自己免疫性又は先天性） "Autoimmune pulmonary alveolar proteinosis", "Congenital pulmonary alveolar proteinosis", "Hereditary pulmonary alveolar proteinosis", "Pulmonary alveolar proteinosis" | 20 trials 6 / 12 / 5 / 0 | 15 drugs [ 7 drugs ] | 3 genes 12 pathways | 約900人（自己免疫性PAP及び先天性PAP） | |
| 230 | 肺胞低換気症候群 "Alveolar hypoventilation syndrome", "Hypoventilation syndrome" | 5 trials 0 / 1 / 2 / 0 | 5 drugs [ 3 drugs ] | 16 genes 25 pathways | 約3,000人 | |
| 231 | α1－アンチトリプシン欠乏症 "Alpha-1-antitrypsin deficiency", "AATD" | 38 trials 9 / 21 / 11 / 1 | 56 drugs [ 17 drugs ] | 43 genes 49 pathways | 100人未満 | |
| 232 | カーニー複合 "Carney complex" | 1 trial 0 / 1 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 29 pathways | 100人未満 | |
| 233 | ウォルフラム症候群 "Wolfram syndrome", "Diabetes Insipidus, Diabetes mellitus, optic atrophy, and deafness syndrome", "DIDMOAD syndrome" | 4 trials 1 / 3 / 1 / 0 | 10 drugs [ 7 drugs ] | 11 genes 40 pathways | 約200人 | |
| 234 | ペルオキシソーム病（副腎白質ジストロフィーを除く。） "Peroxisomal disease (except Adrenoleukodystrophy)", "Peroxisomal disease", "Peroxisomal disorder", "Peroxisome biogenesis disorder", "Zellweger syndrome", "PEX gene disorder", "Neonatal adrenoleukodystrophy", "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", "Refsum disease", "Plasmalogen biosynthesis enzyme deficiency", "Rhizomelic chondrodysplasia punctata type 2", "RCDP type 2", "RCDP2", "Rhizomelic chondrodysplasia punctata type 3", "RCDP type 3", "RCDP3", "Primary hyperoxaluria type 1", "Acatalasemia", "Acatalasia", "Contiguous ABCD1/DXS1357E deletion syndrome", "CADDS" | 17 trials 3 / 7 / 5 / 0 | 28 drugs [ 11 drugs ] | 11 genes 37 pathways | 100人未満 | |
| 235 | 副甲状腺機能低下症 "Hypoparathyroidism", "Accessory thyroid hypergasia disease" | 44 trials 7 / 7 / 14 / 9 | 59 drugs [ 18 drugs ] | 4 genes 5 pathways | 約900人 | |
| 236 | 偽性副甲状腺機能低下症 "Pseudohypoparathyroidism" | 4 trials 0 / 2 / 0 / 1 | 3 drugs [ 2 drugs ] | 20 genes 28 pathways | 約400人 | |
| 237 | 副腎皮質刺激ホルモン不応症 "ACTH unresponsiveness", "Adrenocorticotropic hormone unresponsiveness", "Adrenocorticotropic hormone insensitivity", "Triple A syndrome", "Allgrove syndrome" | - | - | - | 100人未満 | |
| 238 | ビタミンＤ抵抗性くる病/骨軟化症 "Vitamin D-resistant rickets", "Vitamin D-resistant osteomalacia", "VDRR", "FGF23-related hypophosphatemic disease", "FGF23-related hypophosphatemia" | 1 trial 0 / 0 / 1 / 0 | 1 drug [ - ] | - | 厚生労働省ホルモン受容機構異常に関する研究班の全国調査から、本邦での年間発症症例数117例（95％ CI 75-160）と推定されている。 | |
| 239 | ビタミンＤ依存性くる病/骨軟化症 "Vitamin D-dependent rickets", "Vitamin D-dependent osteomalacia", "VDDR" | - | - | - | 100人未満 | |
| 240 | フェニルケトン尿症 "Phenylketonuria", "Phenylalanine hydroxylase deficiency", "PAH deficiency", "Tetrahydrobiopterin deficiency", "BH4 deficiency", "BH4 reactive hyper pheemia" | 78 trials 12 / 15 / 17 / 10 | 53 drugs [ 8 drugs ] | - | 約500人 | |
| 241 | 高チロシン血症1型 "Hypertyrosinemia type I", "Tyrosinemia type I", "Tyrosinemia I", "Hereditary tyrosinemia, Type I" | 11 trials 5 / 1 / 1 / 0 | 6 drugs [ 1 drug ] | 1 gene 4 pathways | ［告示番号241-243計］100人未満 | |
| 242 | 高チロシン血症2型 "Hypertyrosinemia type II", "Tyrosinemia type II", "Tyrosinemia II", "Hereditary tyrosinemia, Type II" | - | - | - | ［告示番号241-243計］100人未満 | |
| 243 | 高チロシン血症3型 "Hypertyrosinemia type III", "High tyrosinemia", "Tyrosinemia type III", "Tyrosinemia III", "Hereditary tyrosinemia, Type III" | - | - | - | ［告示番号241-243計］100人未満 | |
| 244 | メープルシロップ尿症 "Maple syrup urine disease", "MSUD" | 1 trial 0 / 1 / 1 / 0 | 1 drug [ 1 drug ] | - | 約100人 | |
| 245 | プロピオン酸血症 "Propionic acidemia" | 5 trials 1 / 3 / 1 / 0 | 9 drugs [ 4 drugs ] | 1 gene 6 pathways | 約300人 | |
| 246 | メチルマロン酸血症 "Methylmalonic acidemia" | 6 trials 1 / 5 / 1 / 0 | 16 drugs [ 2 drugs ] | 1 gene 6 pathways | 約300人 | |
| 247 | イソ吉草酸血症 "Isovaleric acidemia", "Isovaleric aciduria", "Isovaleric acid CoA dehydrogenase deficiency" | - | - | - | 100人未満 | |
| 248 | グルコーストランスポーター1欠損症 "Glucose transporter type 1 deficiency", "GLUT1 deficiency" | 18 trials 4 / 10 / 3 / 0 | 7 drugs [ 1 drug ] | - | 100人未満 | |
| 249 | グルタル酸血症1型 "Glutaric acidemia type 1" | - | - | - | 100人未満 | |
| 250 | グルタル酸血症2型 "Glutaric acidemia type 2", "Multiple acyl-CoA dehydrogenase deficiency", "Multiple acyl-CoA dehydrogenation deficiency", "MADD" | - | - | - | 100人未満 | |
| 251 | 尿素サイクル異常症 "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" | 20 trials 10 / 11 / 0 / 2 | 29 drugs [ 9 drugs ] | 1 gene 1 pathway | OTC欠損症 約500人; CPSI欠損症 約100人; アルギニノコハク酸尿症 約100人; その他の尿素サイクル異常症 それぞれ100人未満; | |
| 252 | リジン尿性蛋白不耐症 "Lysinuric protein intolerance" | - | - | - | 100人未満 | |
| 253 | 先天性葉酸吸収不全 "Congenital folate malabsorption", "Hereditary folate malabsorption", "Folate malabsorption" | - | - | - | 100人未満 | |
| 254 | ポルフィリン症 "Porphyria", "Hereditary coproporphyria", "Erythropoietic protoporphyria", "X-linked dominant protoporphyria" | 34 trials 9 / 15 / 11 / 1 | 35 drugs [ 20 drugs ] | 17 genes 30 pathways | 約200人 | |
| 255 | 複合カルボキシラーゼ欠損症 "Multiple carboxylase deficiency", "Holocarboxylase synthetase deficiency", "HCS deficiency", "Biotinidase deficiency" | 1 trial 1 / 1 / 0 / 0 | 1 drug [ - ] | - | 本邦での HCS 欠損症の発症頻度は1/100万である。ビオチニダーゼ欠損症は数例の報告である。 | |
| 256 | 筋型糖原病 "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", "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 IX", "GSDIX", "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" | 81 trials 17 / 33 / 12 / 14 | 71 drugs [ 20 drugs ] | 32 genes 97 pathways | 推定約3,000〜6,000人 | |
| 257 | 肝型糖原病 "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", "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" | 10 trials 1 / 3 / 0 / 0 | 15 drugs [ 4 drugs ] | 1 gene 4 pathways | 約1,200人 | |
| 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 "Galactose-1-phosphate uridylyltransferase deficiency", "Galactose-1-phosphate uridyltransferase deficiency", "Galactosemia type 1", "GALT deficiency" | - | - | - | 100人未満 | |
| 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 "Lecithin-cholesterol acyltransferase deficiency", "LCAT deficiency", "Fish-eye disease" | 1 trial 0 / 0 / 0 / 0 | 2 drugs [ 1 drug ] | - | 100人未満 | |
| 260 | シトステロール血症 "Sitosterolemia" | 12 trials 0 / 1 / 5 / 0 | 11 drugs [ 4 drugs ] | 1 gene 1 pathway | 100人未満 | |
| 261 | タンジール病 "Tangier disease" | 1 trial 0 / 0 / 0 / 0 | 2 drugs [ 1 drug ] | - | 約100人未満 | |
| 262 | 原発性高カイロミクロン血症 "Primary hyperchylomicronemia" | - | - | - | 約300人 | |
| 263 | 脳腱黄色腫症 "Cerebrotendinous xanthomatosis", "27-hydroxylase deficiency", "CYP27 deficiency" | 3 trials 0 / 1 / 0 / 0 | 3 drugs [ 2 drugs ] | 2 genes 4 pathways | 100人未満 | |
| 264 | 無βリポタンパク血症 "Abetalipoproteinemia", "Microsomal triglyceride transfer protein deficiency", "MTP deficiency" | - | - | - | 100人未満（わが国では1,983年に第1例が報告されて以降数家系のみ） | |
| 265 | 脂肪萎縮症 "Lipodystrophy", "Berardinelli-Seip syndrome", "Lawrence syndrome", "Barraquer-Simons syndrome" | 88 trials 9 / 23 / 11 / 21 | 132 drugs [ 54 drugs ] | 14 genes 78 pathways | 約100人 | |
| 266 | 家族性地中海熱 "Familial mediterranean fever" | 16 trials 1 / 7 / 2 / 2 | 14 drugs [ 6 drugs ] | 14 genes 52 pathways | 約300人 | |
| 267 | 高ＩｇＤ症候群 "Hyper-IgD syndrome", "Mevalonate kinase deffiency", "Hyperimmunoglobulinemia D and periodic fever syndrome" | - | - | - | 100人未満 | |
| 268 | 中條・西村症候群 "Nakajo-Nishimura syndrome", "Autoinflammation, lipodystrophy, and dermatosis syndrome", "CANDLE syndrome", "JMP syndrome", "Nakajo syndrome" | - | - | - | 100人未満 | Biobank |
| 269 | 化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群 "Pyogenic arthritis", "Pyoderma gangrenosum", "Acne syndrome", "PAPA syndrome" | 18 trials 1 / 10 / 6 / 0 | 22 drugs [ 11 drugs ] | 12 genes 88 pathways | 約100人未満 | |
| 270 | 慢性再発性多発性骨髄炎 "Chronic recurrent multifocal osteomyelitis" | - | - | - | 100人未満 | |
| 271 | 強直性脊椎炎 "Ankylosing spondylitis", "Spondylarthritis ankylopoietica" | 254 trials 13 / 53 / 84 / 54 | 252 drugs [ 59 drugs ] | 36 genes 130 pathways | 約4,500人 | |
| 272 | 進行性骨化性線維異形成症 "Fibrodysplasia ossificans progressiva" | 9 trials 1 / 7 / 2 / 0 | 7 drugs [ 2 drugs ] | 8 genes 42 pathways | 100人未満 | Biobank |
| 273 | 肋骨異常を伴う先天性側弯症 "Congenital scoliosis with rib anomaly", "Congenital scoliosis" | - | - | - | 10歳以下の小児において、およそ2,000人以下。 | |
| 274 | 骨形成不全症 "Osteogenesis Imperfecta" | 42 trials 7 / 12 / 7 / 6 | 55 drugs [ 13 drugs ] | 12 genes 70 pathways | 約6,000人 | Biobank Animal model |
| 275 | タナトフォリック骨異形成症 "Thanatophoric dysplasia" | - | - | - | 100人未満 | |
| 276 | 軟骨無形成症 "Achondroplasia" | 11 trials 1 / 5 / 3 / 0 | 8 drugs [ 2 drugs ] | 1 gene 5 pathways | 全国で6,000人（発生頻度から推定。） | Biobank Animal model |
| 277 | リンパ管腫症/ゴーハム病 "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 43 pathways | 約100人（研究班全国調査より推定） | |
| 278 | 巨大リンパ管奇形（頚部顔面病変） "Huge lymphatic malformation with cervicofacial lesion", "Huge lymphatic malformation", "Lymphatic malformation" | 14 trials 1 / 8 / 2 / 1 | 15 drugs [ 7 drugs ] | 5 genes 55 pathways | 約600人 | |
| 279 | 巨大静脈奇形（頚部口腔咽頭びまん性病変） "Huge venous malformation with cervical, oral and pharyngeal diffuse lesion", "Huge venous malformation", "Venous malformation" | 7 trials 1 / 3 / 0 / 2 | 16 drugs [ 6 drugs ] | 1 gene 43 pathways | 約200人 | |
| 280 | 巨大動静脈奇形（頚部顔面又は四肢病変） "Huge arteriovenous malformation with cervicofacial or limb lesion", "Huge arteriovenous malformation", "Arteriovenous malformation" | 17 trials 4 / 3 / 0 / 2 | 17 drugs [ 10 drugs ] | 8 genes 106 pathways | 約700人 | |
| 281 | クリッペル・トレノネー・ウェーバー症候群 "Klippel-Trenaunay-Weber syndrome" | 1 trial 0 / 0 / 0 / 0 | 1 drug [ 1 drug ] | 1 gene 43 pathways | 約3,000人 | |
| 282 | 先天性赤血球形成異常性貧血 "Congenital dyserythropoietic anemia" | 1 trial 0 / 0 / 0 / 1 | 1 drug [ 1 drug ] | 2 genes 4 pathways | 100人未満 | |
| 283 | 後天性赤芽球癆 "Acquired pure red cell aplasia", "Pure red cell aplasia" | 12 trials 2 / 7 / 1 / 3 | 25 drugs [ 17 drugs ] | 15 genes 84 pathways | 年間新規患者発生率：0.3人/100万人 | |
| 284 | ダイアモンド・ブラックファン貧血 "Diamond-Blackfan anemia" | 34 trials 13 / 25 / 3 / 1 | 91 drugs [ 36 drugs ] | 21 genes 106 pathways | 約200人 | |
| 285 | ファンコニ貧血 "Fanconi anemia" | 46 trials 21 / 29 / 2 / 0 | 65 drugs [ 27 drugs ] | 25 genes 133 pathways | 約200人 | Biobank |
| 286 | 遺伝性鉄芽球性貧血 "Hereditary sideroblastic anemia", "Congenital sideroblastic anemia", "Sideroblastic anemia" | 3 trials 0 / 1 / 0 / 0 | 7 drugs [ 4 drugs ] | - | 100人未満 | |
| 287 | エプスタイン症候群 "Epstein syndrome" | - | - | - | 約200人 | |
| 288 | 自己免疫性後天性凝固因子欠乏症 "Autoimmune acquired coagulation factor deficiency", "Coagulation factor deficiency", "Factor XIII deficiency", "Factor VIII deficiency", "Acquired hemophilia A", "von Willebrand Disease", "Factor V deficiency" | 84 trials 6 / 17 / 25 / 10 | 115 drugs [ 21 drugs ] | 7 genes 10 pathways | 約700人 | |
| 289 | クロンカイト・カナダ症候群 "Cronkhite-Canada syndrome" | - | - | - | 約500人 | |
| 290 | 非特異性多発性小腸潰瘍症 "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 | 約200人 | |
| 291 | ヒルシュスプルング病（全結腸型又は小腸型） "Hirschsprung disease, entire colon type", "Hirschsprung disease, small intestine type", "Hirschsprung disease", "Hirschprung disease", "Hirschsprung disease associated entercolitis" | 10 trials 0 / 1 / 1 / 1 | 20 drugs [ 12 drugs ] | - | 約10,000人（そのうち全結腸型、小腸型は約1,000人） | |
| 292 | 総排泄腔外反症 "Cloacal exstrophy", "Vesicointestinal fissure" | - | - | - | 約300人 | |
| 293 | 総排泄腔遺残 "Persistent cloaca" | - | - | - | 約600人 | |
| 294 | 先天性横隔膜ヘルニア "Congenital diaphragmatic hernia" | 7 trials 1 / 1 / 2 / 1 | 12 drugs [ 4 drugs ] | 5 genes 14 pathways | 約5,000人 | |
| 295 | 乳幼児肝巨大血管腫 "Infant huge hepatic hemangioma", "Infant giant liver hemangioma" | - | - | - | 100人未満 | |
| 296 | 胆道閉鎖症 "Biliary atresia" | 23 trials 4 / 3 / 1 / 1 | 37 drugs [ 21 drugs ] | 35 genes 35 pathways | 約3,500人 | |
| 297 | アラジール症候群 "Alagille syndrome" | 13 trials 2 / 4 / 0 / 0 | 13 drugs [ 8 drugs ] | - | 約200〜300人 | |
| 298 | 遺伝性膵炎 "Hereditary pancreatitis", "Chronic pancreatitis" | 79 trials 14 / 22 / 15 / 9 | 116 drugs [ 44 drugs ] | 46 genes 121 pathways | 約300〜400人 | |
| 299 | 嚢胞性線維症 "Cystic fibrosis" | 856 trials 163 / 267 / 186 / 82 | 981 drugs [ 220 drugs ] | 84 genes 158 pathways | 100人未満 | |
| 300 | IgG4関連疾患 "IgG4-related disease", "Autoimmune pancreatitis", "IgG4-related sclerosing cholangitis", "IgG4-related lacrimal gland, orbital, and salivary gland lesions", "IgG4-related kidney disease" | 20 trials 4 / 5 / 3 / 2 | 19 drugs [ 13 drugs ] | 8 genes 72 pathways | 約8,000人 | |
| 301 | 黄斑ジストロフィー "Macular dystrophy", "Best disease", "Stargardt disease", "Cone dystrophy", "Cone rod dystrophy", "X-linked juvenile retinoschisis", "Central areolar choroidal dystrophy" | 25 trials 14 / 16 / 2 / 0 | 28 drugs [ 7 drugs ] | 6 genes 45 pathways | 1,000名 | Animal model |
| 302 | レーベル遺伝性視神経症 "Leber hereditary optic neuropathy" | 8 trials 2 / 4 / 4 / 0 | 10 drugs [ 3 drugs ] | 5 genes 30 pathways | 一年間の新規発症推定患者数117人 | |
| 303 | アッシャー症候群 "Usher syndrome" | 3 trials 2 / 3 / 0 / 0 | 3 drugs [ - ] | - | 約8,160人 | |
| 304 | 若年発症型両側性感音難聴 "Juvenile-onset bilateral sensorineural hearing loss" | - | - | - | 約4,000人 | |
| 305 | 遅発性内リンパ水腫 "Delayed endolymphatic hydrops" | 2 trials 0 / 0 / 0 / 0 | 2 drugs [ 2 drugs ] | - | 約4,000〜5,000人 | |
| 306 | 好酸球性副鼻腔炎 "Eosinophilic sinusitis" | 1 trial 0 / 0 / 0 / 0 | 3 drugs [ 3 drugs ] | 2 genes 8 pathways | 約20,000人 | |
| 307 | カナバン病 "Canavan disease" | 3 trials 1 / 1 / 0 / 0 | 4 drugs [ - ] | - | 数人 | |
| 308 | 進行性白質脳症 "Progressive leukoencephalopathy", "Megalencephalic leukoencephalopathy with subcortical cyst", "Leukoencephalopathy with vanishing white matter", "Leukoencephalopathy, progressive, with ovarian failure" | - | - | - | 100人未満 | |
| 309 | 進行性ミオクローヌスてんかん "Progressive myoclonus epilepsy", "Unverricht-Lundborg disease", "Lafora disease", "Benign adult familial myoclonus epilepsy", "BAFME" | 4 trials 0 / 0 / 3 / 0 | 10 drugs [ 3 drugs ] | 4 genes 9 pathways | 約3,000人 | Biobank |
| 310 | 先天異常症候群 "Congenital anomalies syndrome", "Trisomy 1q", "9q34 deletion syndrome", "Cornelia de Lange syndrome", "CdLS", "Smith-Lemli-Opitz syndrome", "SLO syndrome" | 8 trials 2 / 6 / 0 / 0 | 13 drugs [ 6 drugs ] | 2 genes 4 pathways | 約4,000人 | |
| 311 | 先天性三尖弁狭窄症 "Congenital tricuspid stenosis" | - | - | - | 約500人 | |
| 312 | 先天性僧帽弁狭窄症 "Congenital mitral stenosis" | - | - | - | 約100人 | |
| 313 | 先天性肺静脈狭窄症 "Congenital pulmonary vein stenosis" | - | - | - | 約80人 | |
| 314 | 左肺動脈右肺動脈起始症 "Vascular sling" | - | - | - | 約600人 | |
| 315 | ネイルパテラ症候群（爪膝蓋骨症候群）／ＬＭＸ１Ｂ関連腎症 "Nail-Patella syndrome", "LMX1B-associated nephropathy" | - | - | - | 約500人 | |
| 316 | カルニチン回路異常症 "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" | 3 trials 0 / 0 / 1 / 0 | 10 drugs [ 4 drugs ] | 2 genes 8 pathways | 約960人 | |
| 317 | 三頭酵素欠損症 "Trifunctional protein deficiency" | 3 trials 0 / 1 / 0 / 0 | 8 drugs [ 4 drugs ] | 1 gene 1 pathway | 100人未満 | |
| 318 | シトリン欠損症 "Citrin deficiency", "NICCD", "Adult-onset type II citrullinemia", "CTLN2" | 1 trial 0 / 1 / 0 / 0 | 1 drug [ 1 drug ] | - | 約1,500人 | Biobank Animal model |
| 319 | セピアプテリン還元酵素（ＳＲ）欠損症 "Sepiapterin reductase deficiency" | - | - | - | 100人未満（約１人） | |
| 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 "Inherited glycosylphosphatidylinositol deficiency", "Congenital glycosylphosphatidylinositol deficiency" | - | - | - | 100人未満 | |
| 321 | 非ケトーシス型高グリシン血症 "Non-ketotic hyperglycinemia" | - | - | - | 100人未満 | |
| 322 | β―ケトチオラーゼ欠損症 "Beta-ketothiolase deficiency" | - | - | - | 100人未満 | |
| 323 | 芳香族L－アミノ酸脱炭酸酵素欠損症 "Aromatic L-amino acid decarboxylase deficiency" | - | - | - | 100人未満（約10例） | |
| 324 | メチルグルタコン酸尿症 "Methylglutaconic aciduria", "3-methylglutaconyl-CoA hydratase deficiency", "Barth syndrome", "Costeff syndrome", "Mitochondrial respiratory chain disorder", "Dilated cardiomyopathy with ataxia syndrome", "DCMA syndrome" | 2 trials 0 / 2 / 1 / 0 | 2 drugs [ 2 drugs ] | - | 100人未満 | |
| 325 | 遺伝性自己炎症疾患 "Hereditary autoinflammatory syndrome", "NLRC4 abnormality", "Adenosine deaminase 2 deficiency", "ADA2 deficiency", "Aicardi-Goutieres syndrome", "A20 haploinsufficiency" | 5 trials 2 / 4 / 0 / 0 | 9 drugs [ 6 drugs ] | 2 genes 32 pathways | 100人未満（すべて成人症例が存在する。） | |
| 326 | 大理石骨病 "Osteopetrosis" | 16 trials 5 / 11 / 4 / 1 | 33 drugs [ 11 drugs ] | 15 genes 55 pathways | 約100人 | Animal model |
| 327 | 特発性血栓症（遺伝性血栓性素因によるものに限る。） "Idiopathic thrombosis" | - | - | - | 研究班の全国調査から、本邦での患者総数は、約2,000人、年間発症患者数は、新生児・乳児期発症患者は100人未満、成人発症患者は約500人と推定される。 | |
| 328 | 前眼部形成異常 "Anterior segment dysgenesis" | - | - | - | 約6,000人 | |
| 329 | 無虹彩症 "Aniridia" | 3 trials 0 / 2 / 0 / 0 | 2 drugs [ 2 drugs ] | - | 約1,200人 | |
| 330 | 先天性気管狭窄症／先天性声門下狭窄症 "Congenital tracheal stenosis", "Congenital subglottic stenosis" | 1 trial 0 / 1 / 0 / 0 | 3 drugs [ 2 drugs ] | - | 約1,000人 | |
| 331 | 特発性多中心性キャッスルマン病 "Idiopathic multicentric castleman disease", "Castleman disease" | 18 trials 6 / 10 / 0 / 1 | 37 drugs [ 24 drugs ] | 30 genes 140 pathways | 約1,500人 | |
| 332 | 膠様滴状角膜ジストロフィー "Gelatinous drop-like corneal dystrophy" | - | - | - | 約400人 | |
| 333 | ハッチンソン・ギルフォード症候群 "Hutchinson-Gilford syndrome", "Hutchinson-Gilford progeria syndrome", "HGPS" | 5 trials 1 / 4 / 1 / 0 | 5 drugs [ 3 drugs ] | 4 genes 6 pathways | 100人未満 |