[ { "disease": "http://nanbyodata.jp/ontology/NANDO_2201366", "id": "NANDO:2201366", "label_ja": "頭蓋骨幹端異形成症", "label_en": "Craniometaphyseal dysplasia", "label_hira": "ずがいこっかんたんいけいせいしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201374", "id": "NANDO:2201374", "label_ja": "球型重症筋無力症", "label_en": "Bulbar myasthenia gravis", "label_hira": "きゅうがたじゅうしょうきんむりょくしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201375", "id": "NANDO:2201375", "label_ja": "優性単純型表皮水疱症", "label_en": "Autosomal dominant epidermolysis bullosa simplex", "label_hira": "ゆうせいたんじゅんがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201386", "id": "NANDO:2201386", "label_ja": "常染色体優性尿細管間質性腎疾患", "label_en": "Autosomal dominant tubulointerstitial kidney disease", "label_hira": "じょうせんしょくたいゆうせいにょうさいかんかんしつせいじんしっかん", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201399", "id": "NANDO:2201399", "label_ja": "環状20番染色体症候群", "label_en": "Ring chromosome 20 syndrome", "label_hira": "かんじょう20ばんせんしょくたいしょうこうぐん", "notification_number": "68", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201400", "id": "NANDO:2201400", "label_ja": "GRIN2B関連神経発達異常症", "label_en": "GRIN2B-related neurodevelopmental disorder", "label_hira": "じーあーるあいえぬ2びーかんれんしんけいはったついじょうしょう", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201407", "id": "NANDO:2201407", "label_ja": "ミオクロニー脱力発作を伴うてんかん", "label_en": "Epilepsy with myoclonic-atonic seizures", "label_hira": "みおくろにーだつりょくほっさをともなうてんかん", "notification_number": "78", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201414", "id": "NANDO:2201414", "label_ja": "WDR45関連神経変性症", "label_en": "WDR45 associated neurodegeneration", "label_hira": "だぶりゅでぃーあーる45かんれんしんけいへんせいしょう", "notification_number": "95", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201417", "id": "NANDO:2201417", "label_ja": "ヴィーデマン・スタイナー症候群", "label_en": "Wiedemann-Steiner syndrome", "label_hira": "びーでまん・すたいなーしょうこうぐん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201423", "id": "NANDO:2201423", "label_ja": "汎発性限局性強皮症", "label_en": "Generalized morphea", "label_hira": "はんぱつせいげんきょくせいきょうひしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201430", "id": "NANDO:2201430", "label_ja": "脊髄性筋萎縮症I型", "label_en": "Spinal muscular atrophy type I", "label_hira": "せきずいせいきんいしゅくしょう1がた", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201431", "id": "NANDO:2201431", "label_ja": "脊髄性筋萎縮症II型", "label_en": "Spinal muscular atrophy type II", "label_hira": "せきずいせいきんいしゅくしょう2がた", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201463", "id": "NANDO:2201463", "label_ja": "直腸下部型ヒルシュスプルング病", "label_en": "Short-segment Hirschsprung's disease", "label_hira": "ちょくちょうかぶがたひるしゅすぷるんぐびょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201470", "id": "NANDO:2201470", "label_ja": "遺伝性鉄芽球性貧血", "label_en": "Hereditary sideroblastic anemia", "label_hira": "いでんせいてつがきゅうせいひんけつ", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201486", "id": "NANDO:2201486", "label_ja": "咽頭狭窄", "label_en": "Pharyngeal stenosis", "label_hira": "いんとうきょうさく", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_3000003", "id": "NANDO:3000003", "label_ja": "知的障害・てんかん群", "label_en": "Intellectual disability/epilepsy group", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201521", "id": "NANDO:2201521", "label_ja": "先天性食道閉鎖症 Gross D型", "label_en": "Congenital esophageal atresia Gross type D", "label_hira": "せんてんせいしょくどうへいさしょう ぐろすでぃーがた", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100309", "id": "NANDO:2100309", "label_ja": "特発性後天性全身性無汗症", "label_en": "Acquired Idiopathic Generalized Anhidrosis", "label_hira": "とくはつせいこうてんせいぜんしんせいむかんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201126", "id": "NANDO:1201126", "label_ja": "遺伝性アポリポ蛋白 C-III アミロイドーシス", "label_en": "Hereditary apolipoprotein C-III amyloidosis", "label_hira": "いでんせいあぽりぽたんぱくしー3あみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201128", "id": "NANDO:1201128", "label_ja": "遺伝性フィブリノーゲンアミロイドーシス", "label_en": "Hereditary fibrinogen Aα-chain amyloidosis", "label_hira": "いでんせいふぃぶりのーげんあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201133", "id": "NANDO:1201133", "label_ja": "若年性多発性筋炎", "label_en": "juvenile polymyositis", "label_hira": "じゃくねんせいたはつせいきんえん", "notification_number": "50", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201139", "id": "NANDO:1201139", "label_ja": "肝内型原発性硬化性胆管炎", "label_en": "Intrahepatic primary sclerosing cholangitis", "label_hira": "かんないがたげんぱつせいこうかせいたんかんえん", "notification_number": "94", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201141", "id": "NANDO:1201141", "label_ja": "肝内外型原発性硬化性胆管炎", "label_en": "Intra- and extrahepatic primary sclerosing cholangitis", "label_hira": "かんないがいがたげんぱつせいこうかせいたんかんえん", "notification_number": "94", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201174", "id": "NANDO:1201174", "label_ja": "進行性家族性肝内胆汁うっ滞症　その他の型", "label_en": "Progressive Familial Intrahepatic Cholestasis, other types", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう　そのたのかた", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200032", "id": "NANDO:2200032", "label_ja": "血球貪食性リンパ組織球症", "label_en": "Hemophagocytic lymphohistiocytosis", "label_hira": "けっきゅうどんしょくせいりんぱそしききゅうしょう", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200037", "id": "NANDO:2200037", "label_ja": "若年性黄色肉芽腫", "label_en": "Juvenile xanthogranuloma", "label_hira": "じゃくねんせいおうしょくにくげしゅ", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200073", "id": "NANDO:2200073", "label_ja": "副腎皮質癌", "label_en": "Adrenocortical carcinoma", "label_hira": "ふくじんひしつがん", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200075", "id": "NANDO:2200075", "label_ja": "上咽頭癌", "label_en": "Epipharyngeal carcinoma", "label_hira": "じょういんとうがん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200079", "id": "NANDO:2200079", "label_ja": "悪性胸腺腫", "label_en": "Malignant thymoma", "label_hira": "あくせいきょうせんしゅ", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200111", "id": "NANDO:2200111", "label_ja": "びまん性メサンギウム硬化症", "label_en": "Diffuse mesangial sclerosis", "label_hira": "びまんせいめさんぎうむこうかしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200117", "id": "NANDO:2200117", "label_ja": "Pierson症候群", "label_en": "Pierson syndrome", "label_hira": "ぴあそんしょうこうぐん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200135", "id": "NANDO:2200135", "label_ja": "8から21までに掲げるもののほか、慢性糸球体腎炎", "label_en": "Other chronic glomerulonephritis", "label_hira": "8から21までにかかげるもののほか、まんせいしきゅうたいじんえん", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200138", "id": "NANDO:2200138", "label_ja": "アミロイド腎", "label_en": "Amyloid nephropathy", "label_hira": "あみろいどじん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200148", "id": "NANDO:2200148", "label_ja": "慢性腎不全（腎腫瘍によるものに限る。）", "label_en": "Chronic renal failure due to renal tumour", "label_hira": "まんせいじんふぜん（じんしゅようによるものにかぎる。）", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200155", "id": "NANDO:2200155", "label_ja": "低形成腎", "label_en": "Hypoplastic kidney", "label_hira": "ていけいせいじん", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200203", "id": "NANDO:2200203", "label_ja": "線毛機能不全症候群", "label_en": "Primary ciliary dyskinesia", "label_hira": "せんもうきのうふぜんしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200204", "id": "NANDO:2200204", "label_ja": "カルタゲナー症候群", "label_en": "Kartagener syndrome", "label_hira": "かるたげなーしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200205", "id": "NANDO:2200205", "label_ja": "嚢胞性線維症", "label_en": "Cystic fibrosis", "label_hira": "のうほうせいせんいしょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200220", "id": "NANDO:2200220", "label_ja": "ベラパミル感受性心室頻拍", "label_en": "Verapamil sensitive ventricular tachycardia", "label_hira": "べらぱみるかんじゅせいしんしつひんぱく", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200225", "id": "NANDO:2200225", "label_ja": "心房粗動", "label_en": "Atrial flutter", "label_hira": "しんぼうそどう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100199", "id": "NANDO:2100199", "label_ja": "先天性アンチトロンビン欠乏症", "label_en": "Antithrombin deficiency", "label_hira": "せんてんせいあんちとろんびんけつぼうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100225", "id": "NANDO:2100225", "label_ja": "obsolete 先天性グリコシルホスファチジルイノシトール欠損症", "label_en": "obsolete Inherited glycosylphosphatidylinositol deficiency", "label_hira": "せんてんせいぐりこしるほすふぁちじるいのしとーるけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100236", "id": "NANDO:2100236", "label_ja": "難治てんかん脳症", "label_en": "Refractory epileptic encephalopathy", "label_hira": "なんじてんかんのうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100253", "id": "NANDO:2100253", "label_ja": "慢性消化器疾患", "label_en": "Chronic digestive disease", "label_hira": "まんせいしょうかきしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100265", "id": "NANDO:2100265", "label_ja": "obsolete 原発性硬化性胆管炎", "label_en": "obsolete Primary sclerosing cholangitis", "label_hira": "げんぱつせいこうかせいたんかんえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100273", "id": "NANDO:2100273", "label_ja": "難治性膵炎", "label_en": "Intractable pancreatitis", "label_hira": "なんじせいすいえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100300", "id": "NANDO:2100300", "label_ja": "DDX３X関連神経発達異常症", "label_en": "DDX3X-related neurodevelopmental disorder", "label_hira": "でぃーでぃーえっくす3えっくすかんれんしんけいはったついじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100304", "id": "NANDO:2100304", "label_ja": "限局性強皮症", "label_en": "Localized scleroderma/morphea", "label_hira": "げんきょくせいきょうひしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200231", "id": "NANDO:2200231", "label_ja": "心筋緻密化障害", "label_en": "Non-compaction of the ventricle", "label_hira": "しんきんちみつかしょうがい", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200234", "id": "NANDO:2200234", "label_ja": "心室瘤", "label_en": "Aneurysm of ventricle", "label_hira": "しんしつりゅう", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200246", "id": "NANDO:2200246", "label_ja": "冠動脈狭窄症", "label_en": "Stenosis or atresia of coronary artery", "label_hira": "かんどうみゃくきょうさくしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200253", "id": "NANDO:2200253", "label_ja": "心室中隔欠損を伴わない肺動脈閉鎖症", "label_en": "Pulmonary atresia with intact ventricular septum", "label_hira": "しんしつちゅうかくけっそんをともなわないはいどうみゃくへいさしょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200268", "id": "NANDO:2200268", "label_ja": "不完全型房室中隔欠損症", "label_en": "Incomplete atrioventricular septal defect", "label_hira": "ふかんぜんがたぼうしつちゅうかくけっそんしょう", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200273", "id": "NANDO:2200273", "label_ja": "肺静脈狭窄症", "label_en": "Pulmonary venous obstruction", "label_hira": "はいじょうみゃくきょうさくしょう", "notification_number": "79", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200275", "id": "NANDO:2200275", "label_ja": "右室二腔症", "label_en": "Double-chambered right ventricle", "label_hira": "うしつにくうしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200283", "id": "NANDO:2200283", "label_ja": "大動脈縮窄症", "label_en": "Coarctation of the aorta", "label_hira": "だいどうみゃくしゅくさくしょう", "notification_number": "59", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200284", "id": "NANDO:2200284", "label_ja": "大動脈縮窄複合", "label_en": "Coarctation complex", "label_hira": "だいどうみゃくしゅくさくふくごう", "notification_number": "60", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200301", "id": "NANDO:2200301", "label_ja": "三尖弁閉鎖不全症", "label_en": "Tricuspid valve regurgitation", "label_hira": "さんせんべんへいさふぜんしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200305", "id": "NANDO:2200305", "label_ja": "肺動脈弁閉鎖不全症", "label_en": "Pulmonary valve regurgitation", "label_hira": "はいどうみゃくべんへいさふぜんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200322", "id": "NANDO:2200322", "label_ja": "高プロラクチン血症", "label_en": "Hyperprolactinemia", "label_hira": "こうぷろらくちんけっしょう", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200336", "id": "NANDO:2200336", "label_ja": "萎縮性甲状腺炎", "label_en": "Atrophic thyroiditis", "label_hira": "いしゅくせいこうじょうせんえん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200342", "id": "NANDO:2200342", "label_ja": "腺腫様甲状腺腫", "label_en": "Adenomatous goiter", "label_hira": "せんしゅようこうじょうせんしゅ", "notification_number": "54", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200359", "id": "NANDO:2200359", "label_ja": "38から41までに掲げるもののほか、慢性副腎皮質機能低下症", "label_en": "Other chronic adrenal insufficiency", "label_hira": "38から41までにかかげるもののほか、まんせいふくじんひしつきのうていかしょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200363", "id": "NANDO:2200363", "label_ja": "リドル症候群", "label_en": "Liddle syndrome", "label_hira": "りどるしょうこうぐん", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200372", "id": "NANDO:2200372", "label_ja": "11β-水酸化酵素欠損症", "label_en": "11-β-Hydroxylase deficiency", "label_hira": "11べーたすいさんかこうそけっそんしょう", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200393", "id": "NANDO:2200393", "label_ja": "46,XX性分化疾患", "label_en": "Disorders of sex development of 46,XX", "label_hira": "46,えっくすえっくすせいぶんかしっかん", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200402", "id": "NANDO:2200402", "label_ja": "ビタミンD抵抗性骨軟化症", "label_en": "Vitamin D-resistant osteomalacia", "label_hira": "びたみんでぃーていこうせいこつなんかしょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200409", "id": "NANDO:2200409", "label_ja": "多嚢胞性卵巣症候群", "label_en": "Polycystic ovary syndrome", "label_hira": "たのうほうせいらんそうしょうこうぐん", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200413", "id": "NANDO:2200413", "label_ja": "ヌーナン症候群", "label_en": "Noonan syndrome", "label_hira": "ぬーなんしょうこうぐん", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200416", "id": "NANDO:2200416", "label_ja": "全身性エリテマトーデス", "label_en": "Systemic lupus erythematosus", "label_hira": "ぜんしんせいえりてまとーです", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200417", "id": "NANDO:2200417", "label_ja": "皮膚筋炎／多発性筋炎", "label_en": "Juvenile dermatomyositis, polymyositis", "label_hira": "ひふきんえん／たはつせいきんえん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200435", "id": "NANDO:2200435", "label_ja": "中條・西村症候群", "label_en": "Nakajo-Nishimura syndrome", "label_hira": "なかじょう・にしむらしょうこうぐん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200453", "id": "NANDO:2200453", "label_ja": "Majeed症候群", "label_en": "Majeed syndrome", "label_hira": "まじぃーどしょうこうぐん", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200466", "id": "NANDO:2200466", "label_ja": "1から6までに掲げるもののほか、糖尿病", "label_en": "Other diabetes mellitus", "label_hira": "1から6までにかかげるもののほか、とうにょうびょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200469", "id": "NANDO:2200469", "label_ja": "高チロシン血症2型", "label_en": "Tyrosinemia type 2", "label_hira": "こうちろしんけっしょう2がた", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200470", "id": "NANDO:2200470", "label_ja": "高チロシン血症3型", "label_en": "Tyrosinemia type 3", "label_hira": "こうちろしんけっしょう3がた", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200494", "id": "NANDO:2200494", "label_ja": "イソ吉草酸血症", "label_en": "Isovaleric acidemia", "label_hira": "いそきっそうさんけっしょう", "notification_number": "95", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200498", "id": "NANDO:2200498", "label_ja": "3-ヒドロキシ-3-メチルグルタリルCoA合成酵素欠損症", "label_en": "3-hydroxy-3-methylglutaryl-CoA synthase deficiency", "label_hira": "3ひどろきし3めちるぐるたりるこえーごうせいこうそけっそんしょう", "notification_number": "101", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200503", "id": "NANDO:2200503", "label_ja": "原発性高シュウ酸尿症", "label_en": "Primary hyperoxaluria", "label_hira": "げんぱつせいこうしゅうさんにょうしょう", "notification_number": "99", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200504", "id": "NANDO:2200504", "label_ja": "アルカプトン尿症", "label_en": "Alkaptonuria", "label_hira": "あるかぷとんにょうしょう", "notification_number": "94", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200515", "id": "NANDO:2200515", "label_ja": "三頭酵素欠損症", "label_en": "Trifunctional protein deficiency", "label_hira": "さんとうこうそけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200538", "id": "NANDO:2200538", "label_ja": "糖原病I型", "label_en": "Glycogen storage disease type I", "label_hira": "とうげんびょう1がた", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200561", "id": "NANDO:2200561", "label_ja": "ニーマン・ピック病", "label_en": "Niemann-Pick disease", "label_hira": "にーまん・ぴっくびょう", "notification_number": "122", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200574", "id": "NANDO:2200574", "label_ja": "75から101までに掲げるもののほか、ライソゾーム病", "label_en": "Other lysosomal diseases", "label_hira": "75から101までにかかげるもののほか、らいそぞーむびょう", "notification_number": "138", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200587", "id": "NANDO:2200587", "label_ja": "アデニンホスホリボシルトランスフェラーゼ欠損症", "label_en": "Adenine phosphoribosyltransferase deficiency", "label_hira": "あでにんほすほりぼしるとらんすふぇらーぜけっそんしょう", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200613", "id": "NANDO:2200613", "label_ja": "後天性赤芽球癆", "label_en": "Acquired pure red cell aplasia", "label_hira": "こうてんせいせきがきゅうろう", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200616", "id": "NANDO:2200616", "label_ja": "鉄芽球性貧血", "label_en": "Sideroblastic anemia", "label_hira": "てつがきゅうせいひんけつ", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200639", "id": "NANDO:2200639", "label_ja": "播種性血管内凝固症候群", "label_en": "Disseminated intravascular coagulation", "label_hira": "はしゅせいけっかんないぎょうこしょうこうぐん", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200645", "id": "NANDO:2200645", "label_ja": "免疫性血小板減少性紫斑病", "label_en": "Immune thrombocytopenic purpura", "label_hira": "めんえきせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200697", "id": "NANDO:2200697", "label_ja": "オーメン症候群", "label_en": "Omenn syndrome", "label_hira": "おーめんしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200698", "id": "NANDO:2200698", "label_ja": "プリンヌクレオシドホスホリラーゼ欠損症", "label_en": "Purine nucleoside phosphorylase deficiency", "label_hira": "ぷりんぬくれおしどほすほりらーぜけっそんしょう", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200701", "id": "NANDO:2200701", "label_ja": "MHCクラスI欠損症", "label_en": "MHC class I deficiency", "label_hira": "えむえいちしーくらす1けっそんしょう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200711", "id": "NANDO:2200711", "label_ja": "シムケ症候群", "label_en": "Schimke syndrome", "label_hira": "しむけしょうこうぐん", "notification_number": "50", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200712", "id": "NANDO:2200712", "label_ja": "胸腺低形成", "label_en": "Thymus hypoplasia", "label_hira": "きょうせんていけいせい", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200714", "id": "NANDO:2200714", "label_ja": "肝中心静脈閉鎖症を伴う免疫不全症", "label_en": "Hepatic veno-occlusive disease with immunodeficiency", "label_hira": "かんちゅうしんじょうみゃくへいさしょうをともなうめんえきふぜんしょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200715", "id": "NANDO:2200715", "label_ja": "先天性角化異常症", "label_en": "Dyskeratosis congenita", "label_hira": "せんてんせいかくかいじょうしょう", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200718", "id": "NANDO:2200718", "label_ja": "高IgM症候群", "label_en": "Hyper-IgM syndrome", "label_hira": "こうあいじーえむしょうこうぐん", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200736", "id": "NANDO:2200736", "label_ja": "CD25欠損症", "label_en": "Immunodeficiency 41 with lymphoproliferation and autoimmunity", "label_hira": "しーでぃー25けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200761", "id": "NANDO:2200761", "label_ja": "免疫不全を伴う無汗性外胚葉形成異常症", "label_en": "Anhidrotic ectodermal dysplasia with immunodeficiency", "label_hira": "めんえきふぜんをともなうむかんせいがいはいようけいせいいじょうしょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200773", "id": "NANDO:2200773", "label_ja": "CARD9欠損症", "label_en": "CARD9 deficiency", "label_hira": "しーえーあーるでぃー9けっそんしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200774", "id": "NANDO:2200774", "label_ja": "トリパノソーマ感染症", "label_en": "Trypanosomiasis", "label_hira": "とりぱのそーまかんせんしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200811", "id": "NANDO:2200811", "label_ja": "後天的な免疫系障害による免疫不全症", "label_en": "Phenocopies of primary immunodeficiency", "label_hira": "こうてんてきなめんえきけいしょうがいによるめんえきふぜんしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200814", "id": "NANDO:2200814", "label_ja": "脊髄髄膜瘤", "label_en": "Myelomeningocele", "label_hira": "せきずいずいまくりゅう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200818", "id": "NANDO:2200818", "label_ja": "裂脳症", "label_en": "Schizencephaly", "label_hira": "れつのうしょう", "notification_number": "93", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200830", "id": "NANDO:2200830", "label_ja": "スタージ・ウェーバー症候群", "label_en": "Sturge-Weber syndrome", "label_hira": "すたーじ・うぇーばーしょうこうぐん", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200844", "id": "NANDO:2200844", "label_ja": "アペール症候群", "label_en": "Apert syndrome", "label_hira": "あぺーるしょうこうぐん", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200846", "id": "NANDO:2200846", "label_ja": "37から39までに掲げるもののほか、重度の頭蓋骨縫合早期癒合症", "label_en": "Other craniosynostosis", "label_hira": "37から39までにかかげるもののほか、じゅうどのずがいこつそうきゆごうしょう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200848", "id": "NANDO:2200848", "label_ja": "Seather-Chotzen症候群", "label_en": "Saethre-Chotzen syndrome", "label_hira": "せーとれひょつぇんしょうこうぐん", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200855", "id": "NANDO:2200855", "label_ja": "遺伝性運動感覚ニューロパチー", "label_en": "Hereditary Motor and Sensory Neuropathy", "label_hira": "いでんせいうんどうかんかくにゅーろぱちー", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200856", "id": "NANDO:2200856", "label_ja": "デュシェンヌ型筋ジストロフィー", "label_en": "Duchenne muscular dystrophy", "label_hira": "でゅしぇんぬがたきんじすとろふぃー", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200865", "id": "NANDO:2200865", "label_ja": "ベッカー型筋ジストロフィー", "label_en": "Becker muscular dystrophy", "label_hira": "べっかーがたきんじすとろふぃー", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200870", "id": "NANDO:2200870", "label_ja": "セントラルコア病", "label_en": "Central core disease", "label_hira": "せんとらるこあびょう", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200915", "id": "NANDO:2200915", "label_ja": "家族性腺腫性ポリポーシス", "label_en": "Familial adenomatous polyposis", "label_hira": "かぞくせいせんしゅせいぽりぽーしす", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200918", "id": "NANDO:2200918", "label_ja": "カウデン症候群", "label_en": "Cowden syndrome", "label_hira": "かうでんしょうこうぐん", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200919", "id": "NANDO:2200919", "label_ja": "周期性嘔吐症候群", "label_en": "Cyclic vomiting syndrome", "label_hira": "しゅうきせいおうとしょうこうぐん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200926", "id": "NANDO:2200926", "label_ja": "急性肝不全（昏睡型）", "label_en": "Acute liver failure with hepatic coma", "label_hira": "きゅうせいかんふぜん（こんすいがた）", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200927", "id": "NANDO:2200927", "label_ja": "新生児ヘモクロマトーシス", "label_en": "Neonatal hemochromatosis", "label_hira": "しんせいじへもくろまとーしす", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200934", "id": "NANDO:2200934", "label_ja": "先天性多発肝内胆管拡張症", "label_en": "Caroli disease", "label_hira": "せんてんせいたはつかんないたんかんかくちょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200938", "id": "NANDO:2200938", "label_ja": "門脈圧亢進症", "label_en": "Portal hypertension", "label_hira": "もんみゃくあつこうしんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200942", "id": "NANDO:2200942", "label_ja": "遺伝性膵炎", "label_en": "Hereditary pancreatitis", "label_hira": "いでんせいすいえん", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200947", "id": "NANDO:2200947", "label_ja": "巨大膀胱短小結腸腸管蠕動不全症", "label_en": "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "label_hira": "きょだいぼうこうたんしょうけっちょうちょうかんぜんどうふぜんしょう", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200948", "id": "NANDO:2200948", "label_ja": "腸管神経節細胞僅少症", "label_en": "Congenital Isolated Hypoganglionosis", "label_hira": "ちょうかんしんけいせつさいぼうきんしょうしょう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200950", "id": "NANDO:2200950", "label_ja": "総排泄腔遺残", "label_en": "Persistent cloaca", "label_hira": "そうはいせつくういざん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200962", "id": "NANDO:2200962", "label_ja": "4p-症候群", "label_en": "4p- Syndrome", "label_hira": "4ぴーまいなすしょうこうぐん", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201019", "id": "NANDO:2201019", "label_ja": "ラーセン症候群", "label_en": "Larsen syndrome", "label_hira": "らーせんしょうこうぐん", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201025", "id": "NANDO:2201025", "label_ja": "骨線状症", "label_en": "Osteopathia striata", "label_hira": "こつせんじょうしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201038", "id": "NANDO:2201038", "label_ja": "両側性網膜芽細胞腫", "label_en": "Bilateral retinoblastoma", "label_hira": "りょうそくせいもうまくがさいぼうしゅ", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201045", "id": "NANDO:2201045", "label_ja": "川崎病性冠動脈瘤（不全型川崎病）", "label_en": "Coronary aneurysms complicated with Kawasaki disease (abortive Kawasaki disease)", "label_hira": "かわさきびょうせいかんどうみゃくりゅう（ふぜんがたかわさきびょう）", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201064", "id": "NANDO:2201064", "label_ja": "混合型高安動脈炎", "label_en": "Mixed-type Takayasu arteritis", "label_hira": "こんごうがたたかやすどうみゃくえん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201086", "id": "NANDO:2201086", "label_ja": "遅発型N-アセチルグルタミン酸合成酵素欠損症", "label_en": "Late-onset N-acetylglutamate synthetase deficiency", "label_hira": "ちはつがたえぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201093", "id": "NANDO:2201093", "label_ja": "発症前型アルギニノコハク酸合成酵素欠損症", "label_en": "Presymptomatic argininosuccinate synthetase deficiency", "label_hira": "はっしょうまえがたあるぎにのこはくさんごうせいこうそけっそんしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201101", "id": "NANDO:2201101", "label_ja": "遅発型高アルギニン血症", "label_en": "Late-onset hyperarginemia", "label_hira": "ちはつがたこうあるぎにんけっしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201108", "id": "NANDO:2201108", "label_ja": "コバラミン代謝異常 cblD", "label_en": "Methylmalonic acidemia CblD type", "label_hira": "こばらみんたいしゃいじょう しーびーえるでぃー", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201124", "id": "NANDO:2201124", "label_ja": "発症前型グルタル酸血症1型", "label_en": "Presymptomatic glutaric acidemia type 1", "label_hira": "はっしょうまえがたぐるたるさんけっしょう1がた", "notification_number": "97", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201130", "id": "NANDO:2201130", "label_ja": "遅発型カルニチンパルミトイルトランスフェラーゼI欠損症", "label_en": "Late-onset carnitine palmitoyltransferase I deficiency", "label_hira": "ちはつがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201135", "id": "NANDO:2201135", "label_ja": "発症前型カルニチンアシルカルニチントランスロカーゼ欠損症", "label_en": "Presymptomatic carnitine-acylcarnitine translocase deficiency", "label_hira": "はっしょうまえがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201136", "id": "NANDO:2201136", "label_ja": "新生児期発症型カルニチンアシルカルニチントランスロカーゼ欠損症", "label_en": "Neonatal-onset carnitine-acylcarnitine translocase deficiency", "label_hira": "しんせいじきはっしょうがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201143", "id": "NANDO:2201143", "label_ja": "発症前型中鎖アシルCoA脱水素酵素欠損症", "label_en": "Presymptomatic medium-chain acyl-CoA dehydrogenase deficiency", "label_hira": "はっしょうまえがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201146", "id": "NANDO:2201146", "label_ja": "遅発型中鎖アシルCoA脱水素酵素欠損症", "label_en": "Late-onset medium-chain acyl-CoA dehydrogenase deficiency", "label_hira": "ちはつがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201181", "id": "NANDO:2201181", "label_ja": "中間型ムコ多糖症VI型", "label_en": "Mucopolysaccharidosis type VI, intermediate form", "label_hira": "ちゅうかんがたむこたとうしょう6がた", "notification_number": "133", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201207", "id": "NANDO:2201207", "label_ja": "ニーマン・ピック病B型", "label_en": "Niemann-Pick disease type B", "label_hira": "にーまん・ぴっくびょうびーがた", "notification_number": "122", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201211", "id": "NANDO:2201211", "label_ja": "ゴーシェ病2型", "label_en": "Gaucher disease type 2", "label_hira": "ごーしぇびょう2がた", "notification_number": "115", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201251", "id": "NANDO:2201251", "label_ja": "アジソン型副腎白質ジストロフィー", "label_en": "Addison-only adrenoleukodystrophy", "label_hira": "あじそんがたふくじんはくしつじすとろふぃー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201283", "id": "NANDO:2201283", "label_ja": "p40phox欠損慢性肉芽腫症", "label_en": "p40phox-deficient chronic granulomatous disease", "label_hira": "ぴー40ふぉっくすけっそんまんせいにくげしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201300", "id": "NANDO:2201300", "label_ja": "GAMT欠損症", "label_en": "GAMT deficiency", "label_hira": "じーえーえむてぃーけっそんしょう", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201306", "id": "NANDO:2201306", "label_ja": "非症候性頭蓋骨縫合早期癒合症（鱗状縫合）", "label_en": "Non-syndromic squamosal craniosynostosis", "label_hira": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（りんじょうほうごう）", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201314", "id": "NANDO:2201314", "label_ja": "クルーゾン病（人字縫合）", "label_en": "Crouzon disease (lambdoid synostosis)", "label_hira": "くるーぞんびょう（じんじほうごう）", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201317", "id": "NANDO:2201317", "label_ja": "抗NMDA受容体脳炎", "label_en": "Anti-NMDA receptor encephalitis", "label_hira": "こうえぬえむでぃーえーじゅようたいのうえん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201332", "id": "NANDO:2201332", "label_ja": "アントレー・ビクスラー症候群（冠状縫合）", "label_en": "Antley-Bixler syndrome (coronal synostosis)", "label_hira": "あんとれー・びくすらーしょうこうぐん（かんじょうほうごう）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201335", "id": "NANDO:2201335", "label_ja": "アントレー・ビクスラー症候群（鱗状縫合）", "label_en": "Antley-Bixler syndrome (squamosal synostosis)", "label_hira": "あんとれー・びくすらーしょうこうぐん（りんじょうほうごう）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201344", "id": "NANDO:2201344", "label_ja": "表皮水疱症（その他）", "label_en": "Other epidermolysis bullosa", "label_hira": "ひょうひすいほうしょう（そのた）", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200004", "id": "NANDO:1200004", "label_ja": "脊髄性筋萎縮症I型", "label_en": "Spinal muscular atrophy type I", "label_hira": "せきずいせいきんいしゅくしょう1がた", "notification_number": "3", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200015", "id": "NANDO:1200015", "label_ja": "Mcleod症候群", "label_en": "McLeod syndrome", "label_hira": "まくらうどしょうこうぐん", "notification_number": "9", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200016", "id": "NANDO:1200016", "label_ja": "シャルコー・マリー・トゥース病", "label_en": "Charcot-Marie-Tooth disease", "label_hira": "しゃるこー・まりー・とぅーすびょう", "notification_number": "10", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200017", "id": "NANDO:1200017", "label_ja": "脱髄型シャルコー・マリー・トゥース病", "label_en": "Charcot-Marie-Tooth disease type 1", "label_hira": "だつずいがたしゃるこー・まりー・とぅーすびょう", "notification_number": "10", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200027", "id": "NANDO:1200027", "label_ja": "視神経脊髄炎", "label_en": "Neuromyelitis optica spectrum disorders", "label_hira": "ししんけいせきずいえん", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200046", "id": "NANDO:1200046", "label_ja": "脊髄小脳失調症2型", "label_en": "Spinocerebellar ataxia type 2", "label_hira": "せきずいしょうのうしっちょうしょう2がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200053", "id": "NANDO:1200053", "label_ja": "痙性対麻痺（純粋型）", "label_en": "Pure hereditary spastic paraplegia", "label_hira": "けいせいついまひ（じゅんすいがた）", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200082", "id": "NANDO:1200082", "label_ja": "サポシンB欠損症", "label_en": "Saposin B deficiency", "label_hira": "さぽしんびーけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200085", "id": "NANDO:1200085", "label_ja": "乳幼児型マルチプルスルファターゼ欠損症", "label_en": "Late-infantile multiple sulfatase deficiency", "label_hira": "にゅうようじがたまるちぷるするふぁたーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200096", "id": "NANDO:1200096", "label_ja": "ハーラー／シェイエ病", "label_en": "Hurler-Scheie disease", "label_hira": "はーらー/しゃいえびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200107", "id": "NANDO:1200107", "label_ja": "モルキオ症候群B型", "label_en": "Morquio syndrome type B", "label_hira": "もるきおしょうこうぐんびーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200108", "id": "NANDO:1200108", "label_ja": "マロトー・ラミー症候群", "label_en": "Maroteaux-Lamy syndrome", "label_hira": "まろとー・らみーしょうこうぐん", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200124", "id": "NANDO:1200124", "label_ja": "ムコリピドーシスII型", "label_en": "Mucolipidosis II", "label_hira": "むこりぴどーしす2がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200136", "id": "NANDO:1200136", "label_ja": "シンドラー病II型", "label_en": "Schindler disease type 2", "label_hira": "しんどらーびょう2がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200138", "id": "NANDO:1200138", "label_ja": "ポンペ病", "label_en": "Pompe disease", "label_hira": "ぽんぺびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200139", "id": "NANDO:1200139", "label_ja": "乳児型ポンペ病", "label_en": "Classic infantile Pompe disease", "label_hira": "にゅうじがたぽんぺびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200161", "id": "NANDO:1200161", "label_ja": "シスチン症", "label_en": "Cystinosis", "label_hira": "しすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200175", "id": "NANDO:1200175", "label_ja": "リー脳症", "label_en": "Leigh's encephalomyelopathy", "label_hira": "りーのうしょう", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200179", "id": "NANDO:1200179", "label_ja": "生化学的異常が明らかになったミトコンドリア病", "label_en": "Mitochondrial diseases with proven biochemical abnormality", "label_hira": "せいかがくてきいじょうがあきらかになったみとこんどりあびょう", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200192", "id": "NANDO:1200192", "label_ja": "獲得性クロイツフェルト・ヤコブ病", "label_en": "Environmentally acquired Creutzfeldt-Jakob disease", "label_hira": "かくとくせいくろいつふぇると・やこぶびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200202", "id": "NANDO:1200202", "label_ja": "亜急性硬化性全脳炎（症状が痙攣のみの例）", "label_en": "Subacute sclerosing panencephalitis presenting only with convulsion", "label_hira": "あきゅうせいこうかせいぜんのうえん（しょうじょうがけいれんのみのれい）", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200209", "id": "NANDO:1200209", "label_ja": "全身性アミロイドーシス", "label_en": "Systemic amyloidosis", "label_hira": "ぜんしんせいあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200215", "id": "NANDO:1200215", "label_ja": "ウルリッヒ病", "label_en": "Ullrich disease", "label_hira": "うるりっひびょう", "notification_number": "29", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200237", "id": "NANDO:1200237", "label_ja": "優性栄養障害型表皮水疱症", "label_en": "Dominant dystrophic epidermolysis bullosa", "label_hira": "ゆうせいえいようしょうがいがたひょうひすいほうしょう", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200251", "id": "NANDO:1200251", "label_ja": "高安動脈炎", "label_en": "Takayasu arteritis", "label_hira": "たかやすどうみゃくえん", "notification_number": "40", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200256", "id": "NANDO:1200256", "label_ja": "高安動脈炎（IV型）", "label_en": "Type IV Takayasu arteritis", "label_hira": "たかやすどうみゃくえん（4がた）", "notification_number": "40", "category": "shitei" }, { "disease": 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"http://nanbyodata.jp/ontology/NANDO_1201051", "id": "NANDO:1201051", "label_ja": "口-顔-指症候群", "label_en": "Oral-facial-digital syndrome", "label_hira": "くち-かお-ゆびしょうこうぐん", "notification_number": "177", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201093", "id": "NANDO:1201093", "label_ja": "ビタミンD依存症 1B型", "label_en": "Vitamin D-dependent rickets, type 1B", "label_hira": "びたみんでぃーいぞんしょう1びーがた", "notification_number": "239", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201095", "id": "NANDO:1201095", "label_ja": "MECP2重複症候群", "label_en": "MECP2 Duplication Syndrome", "label_hira": "えむいーしーぴー2ちょうふくしょうこうぐん", "notification_number": "339", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201100", "id": "NANDO:1201100", "label_ja": "脊椎骨端骨幹端異形成症Maroteaux 型", "label_en": "Spondyloepimetaphyseal dysplasia, Maroteaux type ", "label_hira": "せきつい こったん こっかんたん いけいせいしょうまろとーがた", "notification_number": "341", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2000001", "id": "NANDO:2000001", "label_ja": "小児慢性特定疾病", "label_en": "Specific pediatric chronic disease", "label_hira": "しょうにまんせいとくていしっぺい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100003", "id": "NANDO:2100003", "label_ja": "骨髄異形成症候群", "label_en": "Myelodysplastic syndrome", "label_hira": "こつずいいけいせいしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100005", "id": "NANDO:2100005", "label_ja": "組織球症", "label_en": "Histiocytosis", "label_hira": "そしききゅうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100033", "id": "NANDO:2100033", "label_ja": "間質性肺疾患", "label_en": "Interstitial pneumonia", "label_hira": "かんしつせいはいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100049", "id": "NANDO:2100049", "label_ja": "心室頻拍", "label_en": "Ventricular tachycardia", "label_hira": "しんしつひんぱく", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100050", "id": "NANDO:2100050", "label_ja": "心房粗動", "label_en": "Atrial flutter", "label_hira": "しんぼうそどう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100063", "id": "NANDO:2100063", "label_ja": "慢性心膜炎", "label_en": "Chronic pericarditis", "label_hira": "まんせいしんまくえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100068", "id": "NANDO:2100068", "label_ja": "川崎病性冠動脈瘤", "label_en": "Coronary aneurysms complicated with Kawasaki disease", "label_hira": "かわさきびょうせいかんどうみゃくりゅう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100082", "id": "NANDO:2100082", "label_ja": "大動脈肺動脈窓", "label_en": "Aorto-pulmonary window", 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"notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100100", "id": "NANDO:2100100", "label_ja": "血管輪", "label_en": "Vascular ring", "label_hira": "けっかんりん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100104", "id": "NANDO:2100104", "label_ja": "慢性肺性心", "label_en": "Chronic cor pulmonale", "label_hira": "まんせいはいせいしん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100127", "id": "NANDO:2100127", "label_ja": "クッシング症候群", "label_en": "Cushing (Cushing) syndrome", "label_hira": "くっしんぐしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100129", "id": "NANDO:2100129", "label_ja": "アルドステロン症", "label_en": "Aldosteronism", "label_hira": "あるどすてろんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100133", "id": "NANDO:2100133", "label_ja": "偽性低アルドステロン症", "label_en": "Pseudohypoaldosteronism", "label_hira": "ぎせいていあるどすてろんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100143", "id": "NANDO:2100143", "label_ja": "高インスリン血性低血糖症", "label_en": "Hyperinsulinemic hypoglycemia", "label_hira": "こういんすりんけっせいていけっとうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100163", "id": "NANDO:2100163", "label_ja": "ミトコンドリア病", "label_en": "Mitochondrial diseases", "label_hira": "みとこんどりあびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100166", "id": "NANDO:2100166", "label_ja": "ペルオキシソーム病", "label_en": "Peroxisomal disorder", "label_hira": "ぺるおきしそーむびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100185", "id": "NANDO:2100185", "label_ja": "微小血管障害性溶血性貧血", "label_en": "Microangiopathic hemolytic anemia", "label_hira": "びしょうけっかんしょうがいせいようけつせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200011", "id": "NANDO:2200011", "label_ja": "急性巨核芽球性白血病", "label_en": "Acute megakaryoblastic leukemia", "label_hira": "きゅうせいきょかくがきゅうせいはっけつびょう", "notification_number": "70", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200022", "id": "NANDO:2200022", "label_ja": "Bリンパ芽球性リンパ腫", "label_en": "Precursor B lymphoblastic lymphoma", "label_hira": "びーりんぱがきゅうせいりんぱしゅ", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201312", "id": "NANDO:2201312", "label_ja": "クルーゾン病（矢状縫合）", "label_en": "Crouzon disease (sagittal synostosis)", "label_hira": "くるーぞんびょう（しじょうほうごう）", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201315", "id": "NANDO:2201315", "label_ja": "クルーゾン病（前頭縫合）", "label_en": "Crouzon 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"label_en": "Epidermolysis bullosa simplex", "label_hira": "たんじゅんがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201342", "id": "NANDO:2201342", "label_ja": "接合部型表皮水疱症", "label_en": "Junctional epidermolysis bullosa", "label_hira": "せつごうぶがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201346", "id": "NANDO:2201346", "label_ja": "軟骨低発生症", "label_en": "Hypochondrogenesis ", "label_hira": "なんこつていはっせいしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201362", "id": "NANDO:2201362", "label_ja": "Astley-Kendall骨異形成症", "label_en": "Astley-Kendall dysplasia", "label_hira": "あすとれーけんたるこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201371", "id": "NANDO:2201371", "label_ja": "巨大動静脈奇形（Stage II）", "label_en": "Stage II huge 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"notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201490", "id": "NANDO:2201490", "label_ja": "無症候性脊髄空洞症", "label_en": "Asymptomatic syringomyelia", "label_hira": "むしょうこうせいせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201494", "id": "NANDO:2201494", "label_ja": "癒着性くも膜炎に続発した脊髄空洞症", "label_en": "Syringomyelia following adhesive arachnoiditis", "label_hira": "ゆちゃくせいくもまくえんにぞくはつしたせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201507", "id": "NANDO:2201507", "label_ja": "限局性皮質異形成タイプ3d", "label_en": "Focal cortical dysplasia type 3d", "label_hira": "げんきょくせいひしついけいせいたいぷ3でぃー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201514", "id": "NANDO:2201514", "label_ja": "遺伝性高カリウム性周期性四肢麻痺", "label_en": "Hereditary hyperkalemic periodic paralysis", "label_hira": "いでんせいこうかりうむせいしゅうきせいししまひ", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100305", "id": "NANDO:2100305", "label_ja": "脊髄空洞症", "label_en": "Syringomyelia", "label_hira": "せきずいくうどうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201129", "id": "NANDO:1201129", "label_ja": "遺伝性シスタチンC アミロイドーシス", "label_en": "Hereditary cystatin C amyloidosis", "label_hira": "いでんせいしすたちんしーあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201130", "id": "NANDO:1201130", "label_ja": "遺伝性β 2-ミクログロブリンアミロイドーシス", "label_en": "Hereditary β2-microglobulin amyloidosis", "label_hira": "いでんせいべーた2みくろぐろぶりんあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201132", "id": "NANDO:1201132", "label_ja": "若年性皮膚筋炎", "label_en": "juvnile dermatomyositis", "label_hira": "じゃくねんせいひふきんえん", "notification_number": "50", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201145", "id": "NANDO:1201145", "label_ja": "DYT26 ジストニア", "label_en": "DYT26 Dystonia", "label_hira": "でぃーわいてぃー26じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201172", "id": "NANDO:1201172", "label_ja": "グルタル酸血症2型乳幼児・学童期発症型", "label_en": "neonatal-onset form without congenital anomalies Glutaric Acidaemia type 2", "label_hira": "ぐるたるさんけっしょう2がたにゅうようじ・がくどうきはっしょうがた", "notification_number": "250", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200035", "id": "NANDO:2200035", "label_ja": "指状嵌入樹状細胞肉腫", "label_en": "Interdigitating dendritic cell sarcoma", "label_hira": "しじょうかんにゅうじゅじょうさいぼうにくしゅ", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200043", "id": "NANDO:2200043", "label_ja": "ウィルムス腫瘍／腎芽腫", "label_en": "Wilms tumour", "label_hira": "うぃるむすしゅよう／じんがしゅ", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200046", "id": "NANDO:2200046", "label_ja": "肝芽腫", "label_en": "Hepatoblastoma", "label_hira": "かんがしゅ", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200082", "id": "NANDO:2200082", "label_ja": "膵芽腫", "label_en": "Pancreatoblastoma", "label_hira": "すいがしゅ", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200085", "id": "NANDO:2200085", "label_ja": "びまん性星細胞腫", "label_en": "Diffuse astrocytoma", "label_hira": "びまんせいせいさいぼうしゅ", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200086", "id": "NANDO:2200086", "label_ja": "退形成性星細胞腫", "label_en": "Anaplastic astrocytoma", "label_hira": "たいけいせいせいせいさいぼうしゅ", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200087", "id": "NANDO:2200087", "label_ja": "膠芽腫", "label_en": "Glioblastoma", "label_hira": "こうがしゅ", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200113", "id": "NANDO:2200113", "label_ja": "巣状分節性糸球体硬化症", "label_en": "Focal segmental glomerulosclerosis", "label_hira": "そうじょうぶんせつせいしきゅうたいこうかしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200116", "id": "NANDO:2200116", "label_ja": "Denys-Drash症候群", "label_en": "Denys-Drash syndrome", "label_hira": "でにすどらっしゅしょうこうぐん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200126", "id": "NANDO:2200126", "label_ja": "慢性糸球体腎炎（アルポート 症候群によるものに限る。）", "label_en": "Alport syndrome", "label_hira": "まんせいしきゅうたいじんえん（あるぽーとしょうこうぐんによるものにかぎる。）", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200127", "id": "NANDO:2200127", "label_ja": "エプスタイン症候群", "label_en": "Epstein syndrome", "label_hira": "えぷすたいんしょうこうぐん", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200128", "id": "NANDO:2200128", "label_ja": "ループス腎炎", "label_en": "Lupus nephritis", "label_hira": "るーぷすじんえん", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200130", "id": "NANDO:2200130", "label_ja": "急速進行性糸球体腎炎（多発血管炎性肉芽腫症によるものに限る。）", "label_en": "Rapidly progressive glomerulonephritis due to granulomatosis with polyangiitis", "label_hira": "きゅうそくしんこうせいしきゅうたいじんえん（たはつけっかんえんせいにくげしゅしょうによるものにかぎる。）", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200133", "id": "NANDO:2200133", "label_ja": "フィブロネクチン腎症", "label_en": "Glomerulopathy with fibronectin deposits, fibronectin nephropathy", "label_hira": "ふぃぶろねくちんじんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200142", "id": "NANDO:2200142", "label_ja": "腎静脈血栓症", "label_en": "Renal vein thrombosis", "label_hira": "じんじょうみゃくけっせんしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200190", "id": "NANDO:2200190", "label_ja": "喉頭狭窄", "label_en": "Laryngeal stenosis", "label_hira": "こうとうきょうさく", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200193", "id": "NANDO:2200193", "label_ja": "声門下狭窄症", "label_en": "Subglottic stenosis", "label_hira": "せいもんかきょうさくしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100198", "id": "NANDO:2100198", "label_ja": "先天性プロテインS欠乏症", "label_en": "Protein S deficiency", "label_hira": "せんてんせいぷろていんえすけつぼうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100216", "id": "NANDO:2100216", "label_ja": "仙尾部奇形腫", "label_en": "Sacrococcygeal teratoma", "label_hira": "せんびぶきけいしゅ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100229", "id": "NANDO:2100229", "label_ja": "脳動静脈奇形", "label_en": "Cerebral arteriovenous malformation", "label_hira": "のうどうじょうみゃくきけい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100230", "id": "NANDO:2100230", "label_ja": "海綿状血管腫（脳脊髄）", "label_en": "Cavernous angioma of the brain and spinal cord", "label_hira": "かいめんじょうけっかんしゅ（のうせきずい）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100234", "id": "NANDO:2100234", "label_ja": "先天性ミオパチー", "label_en": "Congenital myopathy", "label_hira": "せんてんせいみおぱちー", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100261", "id": "NANDO:2100261", "label_ja": "非特異性多発性小腸潰瘍症", "label_en": "Chronic nonspecific multiple ulcers of the small intestine", "label_hira": "ひとくいせいたはつせいしょうちょうかいようしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100266", "id": "NANDO:2100266", "label_ja": "肝内胆汁うっ滞性疾患", "label_en": "intrahepatic cholestatic disorders", "label_hira": "かんないたんじゅううったいせいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100287", "id": "NANDO:2100287", "label_ja": "レックリングハウゼン病", "label_en": "von Recklinghausen's disease", "label_hira": "れっくりんぐはうぜんびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100296", "id": "NANDO:2100296", "label_ja": "遺伝性出血性末梢血管拡張症", "label_en": "Hereditary hemorrhagic telangiectasia", "label_hira": "いでんせいしゅっけつせいまっしょうけっかんかくちょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100301", "id": "NANDO:2100301", "label_ja": "糖蛋白代謝障害", "label_en": "Disorders of glycoprotein metabolism", "label_hira": "とうたんぱくたいしゃしょうがい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200230", "id": "NANDO:2200230", "label_ja": "不整脈源性右室心筋症", "label_en": "Arrhythmogenic right ventricular cardiomyopathy or dysplasia", "label_hira": "ふせいみゃくげんせいうしつしんきんしょう", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200248", "id": "NANDO:2200248", "label_ja": "心筋梗塞", "label_en": "Myocardial infarction", "label_hira": "しんきんこうそく", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200249", "id": "NANDO:2200249", "label_ja": "左心低形成症候群", "label_en": "Hypoplastic left heart syndrome", "label_hira": "さしんていけいせいしょうこうぐん", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200254", "id": "NANDO:2200254", "label_ja": "ファロー四徴症", "label_en": "Tetralogy of Fallot", "label_hira": "ふぁろーしちょうしょう", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200256", "id": "NANDO:2200256", "label_ja": "両大血管右室起始症", "label_en": "Double outlet right ventricle", "label_hira": "りょうだいけっかんうしつきししょう", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200257", "id": "NANDO:2200257", "label_ja": "両大血管左室起始症", "label_en": "Double-outlet left ventricle", "label_hira": "りょうだいけっかんさしつきししょう", "notification_number": "99", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200260", "id": "NANDO:2200260", "label_ja": "エプスタイン病", "label_en": "Ebstein's anomaly", "label_hira": "えぷすたいんびょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200264", "id": "NANDO:2200264", "label_ja": "動脈管開存症", "label_en": "Patent ductus arteriosus", "label_hira": "どうみゃくかんかいぞんしょう", "notification_number": "73", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200272", "id": "NANDO:2200272", "label_ja": "部分肺静脈還流異常症", "label_en": "Partial anomalous pulmonary venous connection", "label_hira": "ぶぶんはいじょうみゃくかんりゅういじょうしょう", "notification_number": "78", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200287", "id": "NANDO:2200287", "label_ja": "70から73までに掲げるもののほか、大動脈狭窄症", "label_en": "Other coarctation of the aorta", "label_hira": "70から73までにかかげるもののほか、だいどうみゃくきょうさくしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200292", "id": "NANDO:2200292", "label_ja": "77及び78に掲げるもののほか、血管輪", "label_en": "Other vascular ring", "label_hira": "77および78にかかげるもののほか、けっかんりん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200298", "id": "NANDO:2200298", "label_ja": "肺動脈性肺高血圧症", "label_en": "Pulmonary arterial hypertension", "label_hira": "はいどうみゃくせいはいこうけつあつしょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200300", "id": "NANDO:2200300", "label_ja": "三尖弁狭窄症", "label_en": "Tricuspid valve stenosis", "label_hira": "さんせんべんきょうさくしょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200316", "id": "NANDO:2200316", "label_ja": "成長ホルモン分泌不全性低身長症（脳の器質的原因によるものに限る。）", "label_en": "Growth hormone deficiency caused by cerebral organic disorders", "label_hira": "せいちょうほるもんぶんぴつふぜんせいていしんちょうしょう（のうのきしつてきげんいんによるものにがぎる。）", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200345", "id": "NANDO:2200345", "label_ja": "副甲状腺機能低下症", "label_en": "Hypoparathyroidism", "label_hira": "ふくこうじょうせんきのうていかしょう", "notification_number": "79", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200377", "id": "NANDO:2200377", "label_ja": "ゴナドトロピン依存性思春期早発症", "label_en": "Gonadotropin-dependent precocious puberty", "label_hira": "ごなどとろぴんいぞんせいししゅんきそうはつしょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200388", "id": "NANDO:2200388", "label_ja": "混合性性腺異形成症", "label_en": "Mixed gonadal dysgenesis", "label_hira": "こんごうせいせいせんいけいせいしょう", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200391", "id": "NANDO:2200391", "label_ja": "アンドロゲン不応症", "label_en": "Androgen insensitivity syndrome", "label_hira": "あんどろげんふおうしょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200425", "id": "NANDO:2200425", "label_ja": "結節性多発血管炎", "label_en": "Polyangiitis nodosa", "label_hira": "けっせつせいたはつけっかんえん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200445", "id": "NANDO:2200445", "label_ja": "IL-10/IL-10受容体遺伝子異常症", "label_en": "Interleukin-10/interleukin-10 receptor deficiency", "label_hira": "あいえる10/あいえる10じゅようたいいでんしいじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200457", "id": "NANDO:2200457", "label_ja": "SLC29A3異常症", "label_en": "SLC29A3 deficiency", "label_hira": "えすえるしー29えー3いじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200461", "id": "NANDO:2200461", "label_ja": "2型糖尿病", "label_en": "Diabetes mellitus type 2", "label_hira": "2がたとうにょうびょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200472", "id": "NANDO:2200472", "label_ja": "プロリダーゼ欠損症", "label_en": "Prolidase deficiency", "label_hira": "ぷろりだーぜけっそんしょう", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200478", "id": "NANDO:2200478", "label_ja": "カルバミルリン酸合成酵素欠損症", "label_en": "Carbamoylphosphate synthetase deficiency", "label_hira": "かるばみるりんさんごうせいこうそけっそんしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200488", "id": "NANDO:2200488", "label_ja": "リジン尿性蛋白不耐症", "label_en": "Lysinuric protein intolerance", "label_hira": "りじんにょうせいたんぱくふたいしょう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200500", "id": "NANDO:2200500", "label_ja": "複合カルボキシラーゼ欠損症", "label_en": "Multiple carboxylase deficiency", "label_hira": "ふくごうかるぼきしらーぜけっそんしょう", "notification_number": "105", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200509", "id": "NANDO:2200509", "label_ja": "カルニチンパルミトイルトランスフェラーゼI欠損症", "label_en": "Carnitine palmitoyltransferase I deficiency", "label_hira": "かるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200532", "id": "NANDO:2200532", "label_ja": "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", "label_en": "Galactose-1-phosphate uridyltransferase deficiency", "label_hira": "がらくとーす1りんさんうりじるとらんすふぇらーぜけっそんしょう", "notification_number": "59", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200535", "id": "NANDO:2200535", "label_ja": "フルクトース-1,6-ビスホスファターゼ欠損症", "label_en": "Fructose-1,6-bisphosphatase deficiency", "label_hira": "ふるくとーす1,6びすほすふぁたーぜけっそんしょう", "notification_number": "70", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200544", "id": "NANDO:2200544", "label_ja": "糖原病IX型", "label_en": "Glycogen storage disease type IX", "label_hira": "とうげんびょう9がた", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200547", "id": "NANDO:2200547", "label_ja": "ムコ多糖症I型", "label_en": "Mucopolysaccharidosis type I", "label_hira": "むこたとうしょう1がた", "notification_number": "129", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200548", "id": "NANDO:2200548", "label_ja": "ムコ多糖症II型", "label_en": "Mucopolysaccharidosis type II", "label_hira": "むこたとうしょう2がた", "notification_number": "130", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200555", "id": "NANDO:2200555", "label_ja": "アスパルチルグルコサミン尿症", "label_en": "Aspartylglucosaminuria", "label_hira": "あすぱるちるぐるこさみんにょうしょう", "notification_number": "111", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200583", "id": "NANDO:2200583", "label_ja": "亜硫酸酸化酵素欠損症", "label_en": "Sulfite oxidase deficiency", "label_hira": "ありゅうさんさんかこうそけっそんしょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200590", "id": "NANDO:2200590", "label_ja": "オロト酸尿症", "label_en": "Orotic aciduria", "label_hira": "おろとさんにょうしょう", "notification_number": "76", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200594", "id": "NANDO:2200594", "label_ja": "ビオプテリン代謝異常症", "label_en": "Tetrahydrobiopterin deficiency", "label_hira": "びおぷてりんたいしゃいじょうしょう", "notification_number": "54", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200606", "id": "NANDO:2200606", "label_ja": "129から133までに掲げるもののほか、脂質代謝異常症", "label_en": "Other disorder of lipid metabolism", "label_hira": "129から133までにかかげるもののほか、ししつたいしゃいじょうしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200607", "id": "NANDO:2200607", "label_ja": "エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome", "label_hira": "えーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200610", "id": "NANDO:2200610", "label_ja": "先天性ポルフィリン症", "label_en": "Congenital porphyria", "label_hira": "せんてんせいぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200626", "id": "NANDO:2200626", "label_ja": "サラセミア", "label_en": "Thalassemia", "label_hira": "さらせみあ", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200650", "id": "NANDO:2200650", "label_ja": "血小板減少症（脾機能亢進症によるものに限る。）", "label_en": "Thrombocytopenia due to hypersplenism", "label_hira": "けっしょうばんげんしょうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200652", "id": "NANDO:2200652", "label_ja": "ファンコニ貧血", "label_en": "Fanconi anemia", "label_hira": "ふぁんこにひんけつ", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200660", "id": "NANDO:2200660", "label_ja": "橈骨尺骨融合を伴う血小板減少症", "label_en": "Congenital thrombocytopenia with radio-ulnar synostosis", "label_hira": "とうこつしゃっこつゆうごうをともなうけっしょうばんげんしょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200667", "id": "NANDO:2200667", "label_ja": "β1 tubulin 異常症", "label_en": "β-1 tubulin disorders", "label_hira": "べーた1ちゅーぶりんいじょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200672", "id": "NANDO:2200672", "label_ja": "先天性フィブリノーゲン欠乏症", "label_en": "Afibrinogenemia", "label_hira": "せんてんせいふぃぶりのーげんけつぼうしょう", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200687", "id": "NANDO:2200687", "label_ja": "先天性α2-プラスミンインヒビター欠乏症", "label_en": "Alpha-2-plasmin inhibitor deficiency", "label_hira": "せんてんせいあるふぁ2ぷらすみんいんひびたーけつぼうしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200708", "id": "NANDO:2200708", "label_ja": "ICF症候群", "label_en": "ICF syndrome", "label_hira": "あいしーえふしょうこうぐん", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200724", "id": "NANDO:2200724", "label_ja": "チェディアック・東症候群", "label_en": "Chédiak-Higashi syndrome", "label_hira": "ちぇでぃあっく・ひがししょうこうぐん", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200739", "id": "NANDO:2200739", "label_ja": "ITCH欠損症", "label_en": "Syndromic multisystem autoimmune disease due to Itch deficiency", "label_hira": "あいてぃーしーえいちけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200743", "id": "NANDO:2200743", "label_ja": "PRKCδ欠損症", "label_en": "PKC-δ deficiency", "label_hira": "ぴーあーるけーしーでるたけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200756", "id": "NANDO:2200756", "label_ja": "シュワッハマン・ダイアモンド症候群", "label_en": "Shwachman-Diamond syndrome", "label_hira": "しゅわっはまん・だいあもんどしょうこうぐん", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200757", "id": "NANDO:2200757", "label_ja": "慢性肉芽腫症", "label_en": "Chronic granulomatous disease", "label_hira": "まんせいにくげしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200760", "id": "NANDO:2200760", "label_ja": "38から42までに掲げるもののほか、白血球機能異常", "label_en": "Other congenital defects of phagocyte function", "label_hira": "38から42までにかかげるもののほか、はっけっきゅうきのういじょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200763", "id": "NANDO:2200763", "label_ja": "MyD88欠損症", "label_en": "MyD88 deficiency", "label_hira": "みっど88 / まいでぃー88けっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200777", "id": "NANDO:2200777", "label_ja": "C1q 欠損症", "label_en": "C1q deficiency", "label_hira": "しー1きゅーけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200787", "id": "NANDO:2200787", "label_ja": "C9 欠損症", "label_en": "C9 deficiency", "label_hira": "しー9けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200797", "id": "NANDO:2200797", "label_ja": "B因子欠損症", "label_en": "Factor B deficiency", "label_hira": "びーいんしけっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200806", "id": "NANDO:2200806", "label_ja": "特発性好酸球増加症", "label_en": "Hypereosinophilic syndrome", "label_hira": "とくはつせいこうさんきゅうぞうかしょう", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200821", "id": "NANDO:2200821", "label_ja": "ダンディー・ウォーカー症候群", "label_en": "Dandy-Walker syndrome", "label_hira": "だんでぃー・うぉーかーしょうこうぐん", "notification_number": "90", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200834", "id": "NANDO:2200834", "label_ja": "カナバン病", "label_en": "Canavan disease", "label_hira": "かなばんびょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200871", "id": "NANDO:2200871", "label_ja": "マルチコア病", "label_en": "Multicore disease", "label_hira": "まるちこあびょう", "notification_number": "53", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200881", "id": "NANDO:2200881", "label_ja": "ラフォラ病", "label_en": "Lafora disease", "label_hira": "らふぉらびょう", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200641", "id": "NANDO:2200641", "label_ja": "obsolete 非典型溶血性尿毒症症候群", "label_en": "obsolete Atypical hemolytic uremic syndrome", "label_hira": "ひてんけいようけつせいにょうどくしょうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200903", "id": "NANDO:2200903", "label_ja": "難治頻回部分発作重積型急性脳炎", "label_en": "Acute encephalitis with refractory, repetitive partial seizures", "label_hira": "なんちひんかいぶぶんほっさじゅうせきがたきゅうせいのうえん", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200904", "id": "NANDO:2200904", "label_ja": "多発性硬化症", "label_en": "Multiple sclerosis", "label_hira": "たはつせいこうかしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200909", "id": "NANDO:2200909", "label_ja": "先天性グルコース・ガラクトース吸収不良症", "label_en": "Glucose-galactose malabsorption", "label_hira": "せんてんせいぐるこーす・がらくとーすきゅうしゅうふりょうしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200913", "id": "NANDO:2200913", "label_ja": "微絨毛封入体病", "label_en": "Microvillus inclusion disease", "label_hira": "びじゅうもうふうにゅうたいびょう", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200914", "id": "NANDO:2200914", "label_ja": "腸リンパ管拡張症", "label_en": "Intestinal lymphangiectasia", "label_hira": "ちょうりんぱかんかくちょうしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200920", "id": "NANDO:2200920", "label_ja": "潰瘍性大腸炎", "label_en": "Ulcerative colitis", "label_hira": "かいようせいだいちょうえん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200936", "id": "NANDO:2200936", "label_ja": "先天性肝線維症", "label_en": "Congenital hepatic fibrosis", "label_hira": "せんてんせいかんせんいしょう", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200945", "id": "NANDO:2200945", "label_ja": "ヒルシュスプルング病", "label_en": "Hirschsprung disease", "label_hira": "ひるしゅすぷるんぐびょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200957", "id": "NANDO:2200957", "label_ja": "ウィーバー症候群", "label_en": "Weaver syndrome", "label_hira": "うぃーばーしょうこうぐん", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200964", "id": "NANDO:2200964", "label_ja": "13トリソミー症候群", "label_en": "Trisomy 13", "label_hira": "13とりそみーしょうこうぐん", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200983", "id": "NANDO:2200983", "label_ja": "VATER症候群", "label_en": "VATER syndrome", "label_hira": "ばーたーしょうこうぐん／ふぁーたーしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201004", "id": "NANDO:2201004", "label_ja": "肥厚性皮膚骨膜症", "label_en": "Pachydermoperiostosis", "label_hira": "ひこうせいひふこつまくしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201042", "id": "NANDO:2201042", "label_ja": "閉塞性肥大型心筋症", "label_en": "Hypertrophic obstructive cardiomyopathy", "label_hira": "へいそくせいひだいがたしんきんしょう", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201049", "id": "NANDO:2201049", "label_ja": "特発性中枢性尿崩症", "label_en": "Idiopathic central diabetes insipidus", "label_hira": "とくはつせいちゅうすうせいにょうほうしょう", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201051", "id": "NANDO:2201051", "label_ja": "続発性中枢性尿崩症", "label_en": "Secondary central diabetes insipidus", "label_hira": "ぞくはつせいちゅうすうせいにょうほうしょう", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201057", "id": "NANDO:2201057", "label_ja": "若年性特発性関節炎（リウマトイド因子陰性多関節炎）", "label_en": "Rheumatoid factor-negative juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（りうまといどいんしいんせいたかんせつえん）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201074", "id": "NANDO:2201074", "label_ja": "若年発症成人型糖尿病（その他）", "label_en": "Other maturity-onset diabetes of the young", "label_hira": "じゃくねんはっしょうせいじんがたとうにょうびょう（そのた）", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201075", "id": "NANDO:2201075", "label_ja": "フェニルアラニン水酸化酵素欠損症", "label_en": "Phenylalanine hydroxylase deficiency", "label_hira": "ふぇにるあらにんすいさんかこうそけっそんしょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201094", "id": "NANDO:2201094", "label_ja": "新生児期発症型アルギニノコハク酸合成酵素欠損症", "label_en": "Neonatal-onset argininosuccinate synthetase deficiency", "label_hira": "しんせいじきはっしょうがたあるぎにのこはくさんごうせいこうそけっそんしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201102", "id": "NANDO:2201102", "label_ja": "発症前型メチルマロン酸血症", "label_en": "Presymptomatic methylmalonic acidemia", "label_hira": "はっしょうまえがためちるまろんさんけっしょう", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201105", "id": "NANDO:2201105", "label_ja": "コバラミン代謝異常 cblA", "label_en": "Methylmalonic acidemia cblA type", "label_hira": "こばらみんたいしゃいじょう しーびーえるえー", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201112", "id": "NANDO:2201112", "label_ja": "発症前型プロピオン酸血症", "label_en": "Presymptomatic propionic acidemia", "label_hira": "はっしょうまえがたぷろぴおんさんけっしょう", "notification_number": "106", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201114", "id": "NANDO:2201114", "label_ja": "慢性進行型プロピオン酸血症", "label_en": "Propionic acidemia, chronic progressive form", "label_hira": "まんせいしんこうがたぷろぴおんさんけっしょう", "notification_number": "106", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201125", "id": "NANDO:2201125", "label_ja": "急性発症型グルタル酸血症1型", "label_en": "Acute-onset glutaric acidemia type 1", "label_hira": "きゅうせいはっしょうがたぐるたるさんけっしょう1がた", "notification_number": "97", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201138", "id": "NANDO:2201138", "label_ja": "遅発型カルニチンアシルカルニチントランスロカーゼ欠損症", "label_en": "Late-onset carnitine-acylcarnitine translocase deficiency", "label_hira": "ちはつがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201144", "id": "NANDO:2201144", "label_ja": "新生児期発症型中鎖アシルCoA脱水素酵素欠損症", "label_en": "Neonatal-onset medium-chain acyl-CoA dehydrogenase deficiency", "label_hira": "しんせいじきはっしょうがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201147", "id": "NANDO:2201147", "label_ja": "発症前型三頭酵素欠損症", "label_en": "Presymptomatic trifunctional protein deficiency", "label_hira": "はっしょうまえがたさんとうこうそけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201168", "id": "NANDO:2201168", "label_ja": "Hurler病", "label_en": "Hurler Disease", "label_hira": "はーらーびょう", "notification_number": "129", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201183", "id": "NANDO:2201183", "label_ja": "新生児型ムコ多糖症VII型", "label_en": "Mucopolysaccharidosis type VII, severe neonatal form", "label_hira": "しんせいじがたむこたとうしょう7がた", "notification_number": "134", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201190", "id": "NANDO:2201190", "label_ja": "β-マンノシドーシス", "label_en": "Beta-mannosidosis", "label_hira": "べーたまんのしどーしす", "notification_number": "128", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201198", "id": "NANDO:2201198", "label_ja": "成人型GM1-ガングリオシドーシス", "label_en": "GM1 gangliosidosis, adult form", "label_hira": "せいじんがたじーえむ1がんぐりおしどーしす", "notification_number": "118", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201226", "id": "NANDO:2201226", "label_ja": "ファーバー病（プロサポシン欠損型）", "label_en": "Type 7 Farber disease", "label_hira": "ふぁーばーびょう（ぷろさぽしんけっそんがた）", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201157", "id": "NANDO:2201157", "label_ja": "obsolete 糖原病IIIc型", "label_en": "obsolete Glycogen storage disease type 3c", "label_hira": "とうげんびょう3しーがた", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201279", "id": "NANDO:2201279", "label_ja": "gp91phox欠損慢性肉芽腫症", "label_en": "gp91phox-deficient chronic granulomatous disease", "label_hira": "じーぴー91ふぉっくすけっそんまんせいにくげしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201291", "id": "NANDO:2201291", "label_ja": "18q欠失症候群", "label_en": "18q-syndrome", "label_hira": "18きゅーけっしつしょうこうぐん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201292", "id": "NANDO:2201292", "label_ja": "アラン・ハーンドン・ダドリー症候群", "label_en": "Allan-Herndon-Dudley syndrome", "label_hira": "あらん・はーんどん・だどりーしょうこうぐん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201311", "id": "NANDO:2201311", "label_ja": "アペール症候群（鱗状縫合）", "label_en": "Apert syndrome (squamosal synostosis)", "label_hira": "あぺーるしょうこうぐん（りんじょうほうごう）", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200001", "id": "NANDO:1200001", "label_ja": "球脊髄性筋萎縮症", "label_en": "Spinal and bulbar muscular atrophy", "label_hira": "きゅうせきずいせいきんいしゅくしょう", "notification_number": "1", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200007", "id": "NANDO:1200007", "label_ja": "脊髄性筋萎縮症IV型", "label_en": "Spinal muscular atrophy type IV", "label_hira": "せきずいせいきんいしゅくしょう4がた", "notification_number": "3", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200008", "id": "NANDO:1200008", "label_ja": "原発性側索硬化症", "label_en": "Primary lateral sclerosis", "label_hira": "げんぱつせいそくさくこうかしょう", "notification_number": "4", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200018", "id": "NANDO:1200018", "label_ja": "軸索型シャルコー・マリー・トゥース病", "label_en": "Charcot-Marie-Tooth disease type 2", "label_hira": "じくさくがたしゃるこー・まりー・とぅーすびょう", "notification_number": "10", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200028", "id": "NANDO:1200028", "label_ja": "Baló病", "label_en": "Baló concentric sclerosis", "label_hira": "ばろーびょう", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200032", "id": "NANDO:1200032", "label_ja": "封入体筋炎", "label_en": "Sporadic inclusion body myositis", "label_hira": "ふうにゅうたいきんえん", "notification_number": "15", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200038", "id": "NANDO:1200038", "label_ja": "孤発性脊髄小脳変性症", "label_en": "Sporadic spinocerebellar degeneration", "label_hira": "こはつせいせきずいしょうのうへんせいしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200055", "id": "NANDO:1200055", "label_ja": "ライソゾーム病", "label_en": "Lysosomal storage disease", "label_hira": "らいそぞーむびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200059", "id": "NANDO:1200059", "label_ja": "ゴーシェ病3型", "label_en": "Gaucher disease type 3", "label_hira": "ごーしぇびょう3がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200061", "id": "NANDO:1200061", "label_ja": "ニーマン・ピック病A型", "label_en": "Niemann-Pick disease type A", "label_hira": "にーまん・ぴっくびょうえーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200072", "id": "NANDO:1200072", "label_ja": "サンドホフ病", "label_en": "Sandhoff disease", "label_hira": "さんどほふびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200078", "id": "NANDO:1200078", "label_ja": "異染性白質ジストロフィー", "label_en": "Metachromatic leukodystrophy", "label_hira": "いせんせいはくしつじすとろふぃー", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200117", "id": "NANDO:1200117", "label_ja": "シアリドーシスI型", "label_en": "Sialidosis type 1", "label_hira": "しありどーしす1がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200121", "id": "NANDO:1200121", "label_ja": "晩期乳児型ガラクトシアリドーシス", "label_en": "Galactosialidosis, late infantile form", "label_hira": "ばんきにゅうじがたがらくとしありどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200159", "id": "NANDO:1200159", "label_ja": "亜型ファブリー病", "label_en": "Variant Fabry disease", "label_hira": "あがたふぁぶりーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200166", "id": "NANDO:1200166", "label_ja": "小児大脳型副腎白質ジストロフィー", "label_en": "Childhood cerebral adrenoleukodystrophy", "label_hira": "しょうにだいのうがたふくじんはくしつじすとろふぃー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200169", "id": "NANDO:1200169", "label_ja": "成人大脳型副腎白質ジストロフィー", "label_en": "Adult cerebral adrenoleukodystrophy", "label_hira": "せいじんだいのうがたふくじんはくしつじすとろふぃー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200191", "id": "NANDO:1200191", "label_ja": "致死性家族性不眠症", "label_en": "Fatal familial insomnia", "label_hira": "ちしせいかぞくせいふみんしょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200194", "id": "NANDO:1200194", "label_ja": "変異型クロイツフェルトヤコブ病", "label_en": "Variant Creutzfeldt-Jakob disease", "label_hira": "へんいがたくろいつふぇるとやこぶびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200221", "id": "NANDO:1200221", "label_ja": "自己貪食空胞性ミオパチー", "label_en": "Autophagic vacuolar myopathy", "label_hira": "じこどんしょくくうほうせいみおぱちー", "notification_number": "32", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200228", "id": "NANDO:1200228", "label_ja": "天疱瘡", "label_en": "Pemphigus", "label_hira": "てんぽうそう", "notification_number": "35", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200231", "id": "NANDO:1200231", "label_ja": "腫瘍随伴性天疱瘡", "label_en": "Paraneoplastic pemphigus", "label_hira": "しゅようずいはんせいてんぽうそう", "notification_number": "35", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200241", "id": "NANDO:1200241", "label_ja": "急性汎発性膿疱性乾癬", "label_en": "Acute generalized pustular psoriasis", "label_hira": "きゅうせいはんぱつせいのうほうせいかんせん", "notification_number": "37", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200253", "id": "NANDO:1200253", "label_ja": "高安動脈炎（IIa型）", "label_en": "Type II a Takayasu arteritis", "label_hira": "たかやすどうみゃくえん（2えーがた）", "notification_number": "40", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200255", "id": "NANDO:1200255", "label_ja": "高安動脈炎（III型）", "label_en": "Type III Takayasu arteritis", "label_hira": "たかやすどうみゃくえん（3がた）", "notification_number": "40", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200257", "id": "NANDO:1200257", "label_ja": "高安動脈炎（V型）", "label_en": "Type V Takayasu arteritis", "label_hira": "たかやすどうみゃくえん（5がた）", "notification_number": "40", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200259", "id": "NANDO:1200259", "label_ja": "巨細胞性動脈炎（側頭動脈・顎動脈・眼動脈などの頭蓋領域の動脈に限局）", "label_en": "Cranial giant cell arteritis", "label_hira": "きょさいぼうせいどうみゃくえん（そくとうどうみゃく・がくどうみゃく・がんどうみゃくなどのずがいりょういきのどうみゃくにげんきょく）", "notification_number": "41", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200290", "id": "NANDO:1200290", "label_ja": "心尖部肥大型心筋症", "label_en": "Apical hypertrophic cardiomyopathy", "label_hira": "しんせんぶひだいがたしんきんしょう", "notification_number": "58", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200300", "id": "NANDO:1200300", "label_ja": "再生不良性貧血-PNH症候群", "label_en": "Aplastic anemia-paroxysmal nocturnal hemoglobinuria syndrome", "label_hira": "さいせいふりょうせいひんけつぴーえぬえいちしょうこうぐん", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200120", "id": "NANDO:2200120", "label_ja": "obsolete ギャロウェイ・モワト症候群", "label_en": "obsolete Galloway-Mowat syndrome", "label_hira": "ぎゃろうぇい・もわとしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100008", "id": "NANDO:1100008", "label_ja": "骨・関節系疾患", "label_en": "Bone and joint disease", "label_hira": "こつ・かんせつけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100013", "id": "NANDO:1100013", "label_ja": "消化器系疾患", "label_en": "Gastrointestinal disease", "label_hira": "しょうかきけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200347", "id": "NANDO:1200347", "label_ja": "選択的IgA欠損症", "label_en": "Selective IgA deficiency", "label_hira": "せんたくてきあいじーえーけっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200356", "id": "NANDO:1200356", "label_ja": "シュワッハマン・ダイアモンド症候群", "label_en": "Shwachman-Diamond syndrome", "label_hira": "しゅわっはまん・だいあもんどしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200363", "id": "NANDO:1200363", "label_ja": "慢性皮膚粘膜カンジダ症", "label_en": "Chronic mucocutaneous candidiasis", "label_hira": "まんせいひふねんまくかんじだしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200366", "id": "NANDO:1200366", "label_ja": "IgＡ腎症", "label_en": "IgA nephropathy", "label_hira": "あいじーえーじんしょう", "notification_number": "66", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200372", "id": "NANDO:1200372", "label_ja": "広範脊柱管狭窄症", "label_en": "Coexisting cervical and lumbar spinal stenosis", "label_hira": "こうはんせきちゅうかんきょうさくしょう", "notification_number": "70", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200377", "id": "NANDO:1200377", "label_ja": "下垂体性TSH分泌亢進症", "label_en": "Diencephalo-hypophysial insufficiency-inappropriate thyroid stimulating hormone syndrome", "label_hira": "かすいたいせいてぃーえすえいちぶんぴつこうしんしょう", "notification_number": "73", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200392", "id": "NANDO:1200392", "label_ja": "成人GH 分泌不全症", "label_en": "Adult growth hormone deficiency", "label_hira": "せいじんじーえいちぶんぴつふぜんしょう", "notification_number": "78", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200412", "id": "NANDO:1200412", "label_ja": 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"disease": "http://nanbyodata.jp/ontology/NANDO_1200508", "id": "NANDO:1200508", "label_ja": "無症候性脊髄空洞症", "label_en": "Asymptomatic syringomyelia", "label_hira": "むしょうこうせいせきずいくうどうしょう", "notification_number": "117", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200520", "id": "NANDO:1200520", "label_ja": "DYT9ジストニア", "label_en": "Dystonia 9", "label_hira": "でぃーわいてぃー9じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200535", "id": "NANDO:1200535", "label_ja": "パントテン酸キナーゼ変異に伴う神経変性症（古典型）", "label_en": "Classic pantothenate kinase-associated neurodegeneration", "label_hira": "ぱんとてんさんきなーぜへんいにともなうしんけいへんせいしょう（こてんがた）", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200571", "id": "NANDO:1200571", "label_ja": "限局性皮質異形成タイプ3b", "label_en": "Focal cortical dysplasia type 3b", "label_hira": "げんきょくせいひしついけいせいたいぷ3びー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200582", "id": "NANDO:1200582", "label_ja": "サラ病", "label_en": "Salla disease", "label_hira": "さらびょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200584", "id": "NANDO:1200584", "label_ja": "先天性白内障を伴う髄鞘形成不全症", "label_en": "Hypomyelination and congenital cataract", "label_hira": "せんてんせいはくないしょうをともなうずいしょうけいせいふぜんしょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200602", "id": "NANDO:1200602", "label_ja": "ランドウ・クレフナー症候群", "label_en": "Landau-Kleffner syndrome", "label_hira": "らんどう・くれふなーしょうこうぐん", "notification_number": "155", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200609", "id": "NANDO:1200609", "label_ja": "先天性魚鱗癬", "label_en": "Congenital ichthyosis", "label_hira": "せんてんせいぎょりんせん", "notification_number": "160", "category": "shitei" }, { "disease": 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"label_ja": "obsolete MC2R異常症", "label_en": "obsolete MC2R deficiency", "label_hira": "えむしー2あーるいじょうしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200619", "id": "NANDO:1200619", "label_ja": "obsolete ネザートン症候群", "label_en": "obsolete Netherton syndrome", "label_hira": "ねざーとんしょうこうぐん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200653", "id": "NANDO:1200653", "label_ja": "メンケス病", "label_en": "Menkes disease", "label_hira": "めんけすびょう", "notification_number": "169", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200656", "id": "NANDO:1200656", "label_ja": "低ホスファターゼ症", "label_en": "Hypophosphatasia", "label_hira": "ていほすふぁたーぜしょう", "notification_number": "172", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200659", "id": "NANDO:1200659", "label_ja": "ウィーバー症候群", "label_en": "Weaver syndrome", "label_hira": "うぃーばーしょうこうぐん", "notification_number": "175", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200660", "id": "NANDO:1200660", "label_ja": "コフィン・ローリー症候群", "label_en": "Coffin-Lowry syndrome", "label_hira": "こふぃん・ろーりーしょうこうぐん", "notification_number": "176", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200686", "id": "NANDO:1200686", "label_ja": "アンジェルマン症候群", "label_en": "Angelman syndrome", "label_hira": "あんじぇるまんしょうこうぐん", "notification_number": "201", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200694", "id": "NANDO:1200694", "label_ja": "総動脈幹遺残症I型", "label_en": "Truncus arteriosus communis type I", "label_hira": "そうどうみゃくかんいざんしょう1がた", "notification_number": "207", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200701", "id": "NANDO:1200701", "label_ja": "完全大血管転位症II型", "label_en": "Complete transposition of the great arteries (Group2)", "label_hira": "かんぜんだいけっかんてんいしょう2がた", "notification_number": "209", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200704", "id": "NANDO:1200704", "label_ja": "単心室症", "label_en": "Single ventricle", "label_hira": "たんしんしつしょう", "notification_number": "210", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200710", "id": "NANDO:1200710", "label_ja": "両大血管右室起始症", "label_en": "Double outlet right ventricle", "label_hira": "りょうだいけっかんうしつきししょう", "notification_number": "216", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200716", "id": "NANDO:1200716", "label_ja": "急速進行性糸球体腎炎（PR3-ANCA陽性）", "label_en": "PR3-ANCA positive rapidly progressive glomerulonephritis", "label_hira": "きゅうそくしんこうせいしきゅうたいじんえん（ぴーあーる3-えーえぬしーえーようせい）", "notification_number": "220", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200757", "id": "NANDO:1200757", "label_ja": "ウォルフラム症候群", "label_en": "Wolfram syndrome", "label_hira": "うぉるふらむしょうこうぐん", "notification_number": "233", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200786", "id": "NANDO:1200786", "label_ja": "ビオプテリン代謝異常症", "label_en": "Tetrahydrobiopterin deficiency", "label_hira": "びおぷてりんたいしゃいじょうしょう", "notification_number": "240", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200847", "id": "NANDO:1200847", "label_ja": "肝型糖原病IXa型", "label_en": "Hepatic glycogen storage disease type IXa", "label_hira": "かんがたとうげんびょう9えーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200853", "id": "NANDO:1200853", "label_ja": "シトステロール血症", "label_en": "Sitosterolemia", "label_hira": "しとすてろーるけっしょう", "notification_number": "260", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200856", "id": "NANDO:1200856", "label_ja": "脳腱黄色腫症", "label_en": "Cerebrotendinous xanthomatosis", "label_hira": "のうけんおうしょくしゅしょう", "notification_number": "263", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200858", "id": "NANDO:1200858", "label_ja": "脂肪萎縮症", "label_en": "Lipodystrophy", "label_hira": "しぼういしゅくしょう", "notification_number": "265", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200859", "id": "NANDO:1200859", "label_ja": "先天性全身性脂肪萎縮症", "label_en": "Generalized congenital lipodystrophy", "label_hira": "せんてんせいぜんしんせいしぼういしゅくしょう", "notification_number": "265", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200863", "id": "NANDO:1200863", "label_ja": "家族性地中海熱", "label_en": "Familial Mediterranean fever", "label_hira": "かぞくせいちちゅうかいねつ", "notification_number": "266", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200883", "id": "NANDO:1200883", "label_ja": "巨大動静脈奇形（頚部顔面又は四肢病変）", "label_en": "Huge arteriovenous malformation with cervicofacial or limb lesion", "label_hira": "きょだいどうじょうみゃくきけい（けいぶがんめんまたはししびょうへん）", "notification_number": "280", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200888", "id": "NANDO:1200888", "label_ja": "先天性赤血球形成異常性貧血 Type III", "label_en": "Congenital dyserythropoietic anemia type III", "label_hira": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ たいぷ3", "notification_number": "282", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200908", "id": "NANDO:1200908", "label_ja": "小腸型ヒルシュスプルング病", "label_en": "Extensive aganglionosis Hirschsprung disease", "label_hira": "しょうちょうがたひるしゅすぷるんぐびょう", "notification_number": "291", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200910", "id": "NANDO:1200910", "label_ja": "総排泄腔遺残", "label_en": "Persistent cloaca", "label_hira": "そうはいせつくういざん", "notification_number": "293", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200921", "id": "NANDO:1200921", "label_ja": "遺伝性膵炎", "label_en": "Hereditary pancreatitis", "label_hira": "いでんせいすいえん", "notification_number": "298", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200943", "id": "NANDO:1200943", "label_ja": "アッシャー症候群2型", "label_en": "Usher syndrome Type II", "label_hira": "あっしゃーしょうこうぐん2がた", "notification_number": "303", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200944", "id": "NANDO:1200944", "label_ja": "アッシャー症候群3型", "label_en": "Usher syndrome Type III", "label_hira": "あっしゃーしょうこうぐん3がた", "notification_number": "303", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200948", "id": "NANDO:1200948", "label_ja": "カナバン病", "label_en": "Canavan disease", "label_hira": "かなばんびょう", "notification_number": "307", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200727", "id": "NANDO:1200727", "label_ja": "obsolete メサンギウム細胞軽度増殖性糸球体腎炎", "label_en": "obsolete Slight mesangial proliferative glomerulonephritis", "label_hira": "めさんぎうむさいぼうけいどぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": 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"label_ja": "無虹彩症", "label_en": "Aniridia", "label_hira": "むこうさいしょう", "notification_number": "329", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201005", "id": "NANDO:1201005", "label_ja": "特発性多中心性キャッスルマン病", "label_en": "Idiopathic multicentric Castleman's disease", "label_hira": "とくはつせいたちゅうしんせいきゃっするまんびょう", "notification_number": "331", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201006", "id": "NANDO:1201006", "label_ja": "膠様滴状角膜ジストロフィー", "label_en": "Gelatinous drop-like corneal dystrophy", "label_hira": "こうようてきじょうかくまくじすとろふぃー", "notification_number": "332", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201007", "id": "NANDO:1201007", "label_ja": "ハッチンソン・ギルフォード症候群", "label_en": "Hutchinson-Gilford syndrome", "label_hira": "はっちんそん・ぎるふぉーどしょうこうぐん", "notification_number": "333", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201022", "id": "NANDO:1201022", "label_ja": 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"NANDO:1201074", "label_ja": "孔脳症", "label_en": "Porencephaly", "label_hira": "こうのうしょう", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201087", "id": "NANDO:1201087", "label_ja": "脆弱角膜症候群", "label_en": "Brittle cornea syndrome", "label_hira": "ぜいじゃくかくまくしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201092", "id": "NANDO:1201092", "label_ja": "ビタミンD依存症 1A型", "label_en": "Vitamin D-dependent rickets, type 1A", "label_hira": "びたみんでぃーいぞんしょう1えーがた", "notification_number": "239", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201099", "id": "NANDO:1201099", "label_ja": "変容性骨異形成症", "label_en": "Metatropic dysplasia", "label_hira": "へんようせいいこつけいせいしょう", "notification_number": "341", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201102", "id": "NANDO:1201102", "label_ja": "短体幹症", "label_en": "Brachyolmia, autosomal dominant type", "label_hira": "たんたいかんしょう", "notification_number": "341", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100001", "id": "NANDO:2100001", "label_ja": "悪性新生物", "label_en": "Malignant neoplasms", "label_hira": "あくせいしんせいぶつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100002", "id": "NANDO:2100002", "label_ja": "白血病", "label_en": "Leukemia", "label_hira": "はっけつびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100029", "id": "NANDO:2100029", "label_ja": "慢性呼吸器疾患", "label_en": "Chronic respiratory disease", "label_hira": "まんせいこきゅうきしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100030", "id": "NANDO:2100030", "label_ja": "気道狭窄", "label_en": "Airway obstruction and stenosis", "label_hira": "きどうきょうさく", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100038", "id": "NANDO:2100038", "label_ja": "慢性肺疾患", "label_en": "Chronic lung disease", "label_hira": "まんせいはいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100056", "id": "NANDO:2100056", "label_ja": "心筋緻密化障害", "label_en": "Non-compaction of the ventricle", "label_hira": "しんきんちみつかしょうがい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100059", "id": "NANDO:2100059", "label_ja": "心室瘤", "label_en": "Aneurysm of ventricle", "label_hira": "しんしつりゅう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100086", "id": "NANDO:2100086", "label_ja": "完全型房室中隔欠損症", "label_en": "Complete atrioventricular septal defect", "label_hira": "かんぜんがたぼうしつちゅうかくけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100120", "id": "NANDO:2100120", "label_ja": "甲状腺機能低下症", "label_en": "Hypothyroidism", "label_hira": "こうじょうせんきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100125", "id": "NANDO:2100125", "label_ja": "自己免疫性多内分泌腺症候群", "label_en": "Autoimmune polyendocrinopathy", "label_hira": "じこめんえきせいたないぶんぴつせんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100149", "id": "NANDO:2100149", "label_ja": "多嚢胞性卵巣症候群", "label_en": "Polycystic ovary syndrome", "label_hira": "たのうほうせいらんそうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100167", "id": "NANDO:2100167", "label_ja": "金属代謝異常症", "label_en": "Disorder of metal metabolism", "label_hira": "きんぞくたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100178", "id": "NANDO:2100178", "label_ja": "先天性赤血球形成異常性貧血", "label_en": "Congenital dyserythropoietic anemia", "label_hira": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200001", "id": "NANDO:2200001", "label_ja": "前駆B細胞急性リンパ性白血病", "label_en": "B-cell precursor lymphoblastic leukemia", "label_hira": "ぜんくびーさいぼうきゅうせいりんぱせいはっけつびょう", "notification_number": "80", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201313", "id": "NANDO:2201313", "label_ja": "クルーゾン病（冠状縫合）", "label_en": "Crouzon disease (coronal synostosis)", "label_hira": "くるーぞんびょう（かんじょうほうごう）", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201333", "id": "NANDO:2201333", "label_ja": "アントレー・ビクスラー症候群（人字縫合）", "label_en": "Antley-Bixler syndrome (lambdoid synostosis)", "label_hira": "あんとれー・びくすらーしょうこうぐん（じんじほうごう）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201356", "id": "NANDO:2201356", "label_ja": "X連鎖性劣性末節骨短縮型点状軟骨異形成症", "label_en": "X-linked recessive brachytelephalangic chondrodysplasia punctata", "label_hira": "えっくすれんさせいれっせいまっせつこつたんしゅくがたてんじょうなんこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201364", "id": "NANDO:2201364", "label_ja": "流蝋骨症", "label_en": "Melorheostosis", "label_hira": "りゅうろうこつしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201365", "id": "NANDO:2201365", "label_ja": "異骨性骨硬化症", "label_en": "Dysosteosclerosis", "label_hira": "いこつせいこつこうかしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201381", "id": "NANDO:2201381", "label_ja": "接合部型表皮水疱症（その他）", "label_en": "Other junctional epidermolysis bullosa", "label_hira": "せつごうぶがたひょうひすいほうしょう（そのた）", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201396", "id": "NANDO:2201396", "label_ja": "先天性グリコシル化異常症", "label_en": "Congenital disorders of glycosylation", "label_hira": "せんてんせいぐりこしるかいじょうしょう", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201404", "id": "NANDO:2201404", "label_ja": "PCDH19関連症候群", "label_en": "PCDH19-related syndrome", "label_hira": "ぴーしーでぃーえいち19かんれんしょうこうぐん", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201410", "id": "NANDO:2201410", "label_ja": "ピリドキシン依存性てんかん", "label_en": "Pyridoxine-dependent seizures", "label_hira": "ぴりどきしんいぞんせいてんかん", "notification_number": "99", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201412", "id": "NANDO:2201412", "label_ja": "PLPHP欠損症", "label_en": "PLPHP deficiency", "label_hira": "ぴーえるぴーえいちぴーけっそんしょう", "notification_number": "99", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201450", "id": "NANDO:2201450", "label_ja": "総肺静脈還流異常症III型", "label_en": "Type 3 total anomalous pulmonary venous connection", "label_hira": "そうはいじょうみゃくかんりゅういじょうしょう3がた", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201458", "id": "NANDO:2201458", "label_ja": "新生児・乳児期発症型若年性ポリポーシス", "label_en": "Juvenile polyposis of infancy", "label_hira": "しんせいじ・にゅうじきはっしょうがたじゃくねんせいぽりぽーしす", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201469", "id": "NANDO:2201469", "label_ja": "二次性シェーグレン症候群", "label_en": "Secondary Sjogren's syndrome", "label_hira": "にじせいしぇーぐれんしょうこうぐん", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201415", "id": "NANDO:2201415", "label_ja": "染色体又は遺伝子異常を伴い特徴的な形態的異常の組み合わせを呈する症候群（厚生労働省健康局長の定めるものに限る。）", "label_en": "", "label_hira": "せんしょくたいまたはいでんしいじょうをともないとくちょうてきなけいたいてきいじょうのくみあわせをていするしょうこうぐん（こうせいろうどうしょうけんこうきょくちょうのさだめるものにかぎる。）", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_3000002", "id": "NANDO:3000002", "label_ja": "成長障害・知的障害・特徴的な顔貌群", "label_en": "Growth disorder, intellectual disability, and distinctive facial features", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201491", "id": "NANDO:2201491", "label_ja": "キアリ奇形1型を伴う脊髄空洞症", "label_en": "Syringomyelia associated with type I Chiari malformation", "label_hira": "きありきけい1がたをともなうせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201503", "id": "NANDO:2201503", "label_ja": "限局性皮質異形成タイプ2b", "label_en": "Focal cortical dysplasia type 2b", "label_hira": "げんきょくせいひしついけいせいたいぷ2びー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201511", "id": "NANDO:2201511", "label_ja": "ベッカー病", "label_en": "Becker disease", "label_hira": "べっかーびょう", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201517", "id": "NANDO:2201517", "label_ja": "先天性食道閉鎖症", "label_en": "Congenital esophageal atresia", "label_hira": "せんてんせいしょくどうへいさしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201119", "id": "NANDO:1201119", "label_ja": "オリーブ橋小脳萎縮症", "label_en": "olivopontocerebellar atrophy", "label_hira": "おりーぶきょうしょうのういしゅくしょう", "notification_number": "17", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201123", "id": "NANDO:1201123", "label_ja": "遺伝性ゲルソリンアミロイドーシス", "label_en": "Hereditary gelsolin amyloidosis", "label_hira": "いでんせいげるそりんあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201150", "id": "NANDO:1201150", "label_ja": "脳内鉄沈着神経変性症5型", "label_en": "Neurodegeneration with brain iron accumulation type5", "label_hira": "のうないてつちんちゃくしんけいへんせいしょう5がた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201160", "id": "NANDO:1201160", "label_ja": "ファイファー症候群1型", "label_en": "Pfeiffer syndrome type 1", "label_hira": "ふぁいふぁーしょうこうぐん1がた", "notification_number": "183", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201166", "id": "NANDO:1201166", "label_ja": "コケイン症候群合併型", "label_en": "Xeroderma pigmentosum-Cockayne syndrome", "label_hira": "こけいんしょうこうぐんがっぺいがた", "notification_number": "192", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201173", "id": "NANDO:1201173", "label_ja": "グルタル酸血症2型成人発症型", "label_en": "late-onset form glutaric acidemia type 2", "label_hira": "ぐるたるさんけっしょう2がたせいじんはっしょうがた", "notification_number": "250", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200108", "id": "NANDO:2200108", "label_ja": "頭蓋内胚細胞腫瘍", "label_en": "Intracranial germ cell tumour", "label_hira": "ずがいないはいさいぼうしゅよう", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200114", "id": "NANDO:2200114", "label_ja": "膜性腎症", "label_en": "Membranous nephropathy", "label_hira": "まくせいじんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200115", "id": "NANDO:2200115", "label_ja": "1から6までに掲げるもののほか、ネフローゼ症候群", "label_en": "Other nephrotic syndromes", "label_hira": "1から6までにかかげるもののほか、ねふろーぜしょうこうぐん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200125", "id": "NANDO:2200125", "label_ja": "抗糸球体基底膜腎炎", "label_en": "Goodpasture syndrome", "label_hira": "こうしきゅうたいきていまくじんえん", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200152", "id": "NANDO:2200152", "label_ja": "多発性嚢胞腎", "label_en": "Polycystic kidney disease", "label_hira": "たはつせいのうほうじん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200157", "id": "NANDO:2200157", "label_ja": "ポッター症候群", "label_en": "Potter syndrome", "label_hira": "ぽったーしょうこうぐん", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200163", "id": "NANDO:2200163", "label_ja": "骨盤腎", "label_en": "Pelvic kidney", "label_hira": "こつばんじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200173", "id": "NANDO:2200173", "label_ja": "髄質海綿腎", "label_en": "Medullary sponge kidney", "label_hira": "ずいしつかいめんじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200180", "id": "NANDO:2200180", "label_ja": "46及び47に掲げるもののほか、尿路奇形", "label_en": "Other urinary tract malformations", "label_hira": "46および47にかかげるもののほか、にょうろきけい", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200181", "id": "NANDO:2200181", "label_ja": "重複腎盂尿管", "label_en": "Duplication of the renal pelvis and ureter", "label_hira": "じゅうふくじんうにょうかん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200189", "id": "NANDO:2200189", "label_ja": "気道狭窄", "label_en": "Airway obstruction and stenosis", "label_hira": "きどうきょうさく", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200223", "id": "NANDO:2200223", "label_ja": "アデノシン感受性心室頻拍", "label_en": "Adenosine sensitive VT", "label_hira": "あでのしんかんじゅせいしんしつひんぱく", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100209", "id": "NANDO:2100209", "label_ja": "先天性補体欠損症", "label_en": "Inherited deficiency of complement system", "label_hira": "せんてんせいほたいけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100214", "id": "NANDO:2100214", "label_ja": "神経・筋疾患", "label_en": "Neuromuscular disease", "label_hira": "しんけい・きんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100232", "id": "NANDO:2100232", "label_ja": "先天性ニューロパチー", "label_en": "Congenital neuropathy", "label_hira": "せんてんせいにゅーろぱちー", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100235", "id": "NANDO:2100235", "label_ja": "シュワルツ・ヤンペル症候群", "label_en": "Schwartz-Jampel syndrome", "label_hira": "しゅわるつ・やんぺるしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100239", "id": "NANDO:2100239", "label_ja": "小児交互性片麻痺", "label_en": "Alternating hemiplegia of childhood", "label_hira": "しょうにこうごせいかたまひ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100240", "id": "NANDO:2100240", "label_ja": "変形性筋ジストニー", "label_en": "Dystonia musculorum deformans", "label_hira": "へんけいせいきんじすとにー", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100257", "id": "NANDO:2100257", "label_ja": "ポリポーシス", "label_en": "Polyposis", "label_hira": "ぽりぽーしす", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100271", "id": "NANDO:2100271", "label_ja": "obsolete 門脈・肝動脈瘻", "label_en": "obsolete Congenital hepatoportal arteriovenous fistula", "label_hira": "もんみゃく・かんどうみゃくろう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100275", "id": "NANDO:2100275", "label_ja": "ヒルシュスプルング病及び類縁疾患", "label_en": "Hirschsprung disease and related disease", "label_hira": "ひるしゅすぷるんぐびょうおよびるいえんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100276", "id": "NANDO:2100276", "label_ja": "肝巨大血管腫", "label_en": "Giant hepatic hemangiomas", "label_hira": "かんきょだいけっかんしゅ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100279", "id": "NANDO:2100279", "label_ja": "染色体または遺伝子に変化を伴う症候群", "label_en": "Chromosome abnormality", "label_hira": "せんしょくたいまたはいでんしにへんかをともなうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100289", "id": "NANDO:2100289", "label_ja": "外胚葉形成不全", "label_en": "Ectodermal dysplsia", "label_hira": "がいはいようけいせいふぜん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100297", "id": "NANDO:2100297", "label_ja": "カサバッハ・メリット症候群 ", "label_en": "Kasabach-Merritt syndrome", "label_hira": "かさばっは・めりっとしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200119", "id": "NANDO:2200119", "label_ja": "obsolete ヘルリッツ型表皮水疱症", "label_en": "obsolete Herlitz junctional epidermolysis bullosa", "label_hira": "へるりっつがたひょうひすいほうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200242", "id": "NANDO:2200242", "label_ja": "左冠動脈肺動脈起始症", "label_en": "Abnormal origin of left coronary artery from pulmonary artery", "label_hira": "ひだりかんどうみゃくはいどうみゃくきししょう", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200250", "id": "NANDO:2200250", "label_ja": "単心室症", "label_en": "Single ventricle", "label_hira": "たんしんしつしょう", "notification_number": "68", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200259", "id": "NANDO:2200259", "label_ja": "先天性修正大血管転位症", "label_en": "Congenitally corrected transposition of the great arteries", "label_hira": "せんてんせいしゅうせいだいけっかんてんいしょう", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200265", "id": "NANDO:2200265", "label_ja": "単心房症", "label_en": "Common atrium", "label_hira": "たんしんぼうしょう", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200270", "id": "NANDO:2200270", "label_ja": "心室中隔欠損症", "label_en": "Ventricular septal defect", "label_hira": "しんしつちゅうかくけっそんしょう", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200274", "id": "NANDO:2200274", "label_ja": "左室右房交通症", "label_en": "Left ventricular-right atrial communication", "label_hira": "さしつうぼうこうつうしょう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200304", "id": "NANDO:2200304", "label_ja": "肺動脈弁狭窄症", "label_en": "Pulmonary valve stenosis", "label_hira": "はいどうみゃくべんきょうさくしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200314", "id": "NANDO:2200314", "label_ja": "下垂体性巨人症", "label_en": "Pituitary gigantism", "label_hira": "かすいたいせいきょじんしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200317", "id": "NANDO:2200317", "label_ja": "器質的成長ホルモン分泌不全性低身長症", "label_en": "Congenital growth hormone deficiency", "label_hira": "きしつてきせいちょうほるもんぶんぴつふぜんせいていしんちょうしょう", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200339", "id": "NANDO:2200339", "label_ja": "薬剤性甲状腺機能低下症", "label_en": "Drug-induced hypothyroidism", "label_hira": "やくざいせいこうじょうせんきのうていかしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200343", "id": "NANDO:2200343", "label_ja": "副甲状腺機能亢進症", "label_en": "Hyperparathyroidism", "label_hira": "ふくこうじょうせんきのうこうしんしょう", "notification_number": "78", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200344", "id": "NANDO:2200344", "label_ja": "副甲状腺欠損症", "label_en": "Parathyroid gland defect", "label_hira": "ふくこうじょうせんけっそんしょう", "notification_number": "80", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200375", "id": "NANDO:2200375", "label_ja": "P450酸化還元酵素欠損症", "label_en": "P450 oxidoreductase deficiency", "label_hira": "ぴー450さんかかんげんこうそけっそんしょう", "notification_number": "60", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200383", "id": "NANDO:2200383", "label_ja": "精巣形成不全", "label_en": "Testicular dysgenesis", "label_hira": "せいそうけいせいふぜん", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200384", "id": "NANDO:2200384", "label_ja": "卵巣形成不全", "label_en": "Ovarian dysgenesis", "label_hira": "らんそうけいせいふぜん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200385", "id": "NANDO:2200385", "label_ja": "63及び64に掲げるもののほか、高ゴナドトロピン性性腺機能低下症", "label_en": "Hypergonadotropic hypogonadism of other etiologies", "label_hira": "63および64にかかげるもののほか、こうごなどとろぴんせいせいせんきのうていかしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200387", "id": "NANDO:2200387", "label_ja": "卵精巣性性分化疾患", "label_en": "Ovotesticular dsd", "label_hira": "らんせいそうせいせいぶんかしっかん", "notification_number": "53", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200395", "id": "NANDO:2200395", "label_ja": "ガストリノーマ", "label_en": "Gastrinoma", "label_hira": "がすとりのーま", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200400", "id": "NANDO:2200400", "label_ja": "77及び78に掲げるもののほか、高インスリン血性低血糖症", "label_en": "Other hyperinsulinemic hypoglycemia", "label_hira": "77および78にかかげるもののほか、こういんすりんけっせいていけっとうしょう", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200403", "id": "NANDO:2200403", "label_ja": "原発性低リン血症性くる病", "label_en": "Primary hypophosphatemic rickets", "label_hira": "げんぱつせいていりんけっしょうせいくるびょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200438", "id": "NANDO:2200438", "label_ja": "慢性再発性多発性骨髄炎", "label_en": "Chronic recurrent multifocal osteomyelitis", "label_hira": "まんせいさいはつせいたはつせいこつずいえん", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200439", "id": "NANDO:2200439", "label_ja": "インターロイキンI受容体拮抗分子欠損症", "label_en": "Deficiency of the interleukin-1-receptor antagonist", "label_hira": "いんたーろいきん1じゅようたいきっこうぶんしけっそんしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200456", "id": "NANDO:2200456", "label_ja": "RBCK1欠損症", "label_en": "RBCK1 deficiency", "label_hira": "あーるびーしーけー1けっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200473", "id": "NANDO:2200473", "label_ja": "メープルシロップ尿症", "label_en": "Maple syrup urine disease", "label_hira": "めーぷるしろっぷにょうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200485", "id": "NANDO:2200485", "label_ja": "高オルニチン血症・高アンモニア血症・ホモシトルリン尿症症候群", "label_en": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "label_hira": "こうおるにちんけっしょう・こうあんもにあけっしょう・ほもしとるりんにょうしょうしょうこうぐん", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200490", "id": "NANDO:2200490", "label_ja": "1から21までに掲げるもののほか、アミノ酸代謝異常症", "label_en": "Other disorders of amino acid metabolism", "label_hira": "1から21までにかかげるもののほか、あみのさんたいしゃいじょうしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200492", "id": "NANDO:2200492", "label_ja": "プロピオン酸血症", "label_en": "Propionic acidemia", "label_hira": "ぷろぴおんさんけっしょう", "notification_number": "106", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200496", "id": "NANDO:2200496", "label_ja": "メチルグルタコン酸尿症", "label_en": "Methylglutaconic aciduria", "label_hira": "めちるぐるたこんさんにょうしょう", "notification_number": "108", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200537", "id": "NANDO:2200537", "label_ja": "グリコーゲン合成酵素欠損症", "label_en": "Glycogen synthase deficiency", "label_hira": "ぐりこーげんごうせいこうそけっそんしょう", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200549", "id": "NANDO:2200549", "label_ja": "ムコ多糖症III型", "label_en": "Mucopolysaccharidosis type III", "label_hira": "むこたとうしょう3がた", "notification_number": "131", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200554", "id": "NANDO:2200554", "label_ja": "マンノシドーシス", "label_en": "Mannosidosis", "label_hira": "まんのしどーしす", "notification_number": "128", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200575", "id": "NANDO:2200575", "label_ja": "ペルオキシソーム形成異常症", "label_en": "Peroxisome biogenesis disorders", "label_hira": "ぺるおきしそーむけいせいいじょうしょう", "notification_number": "82", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200582", "id": "NANDO:2200582", "label_ja": "無セルロプラスミン血症", "label_en": "Aceruloplasminemia", "label_hira": "むせるろぷらすみんけっしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200593", "id": "NANDO:2200593", "label_ja": "120に掲げるもののほか、ビタミン代謝異常症", "label_en": "Other disorders of vitamin metabolism", "label_hira": "120にかかげるもののほか、びたみんたいしゃいじょうしょう", "notification_number": "74", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200600", "id": "NANDO:2200600", "label_ja": "122から127までに掲げるもののほか、神経伝達物質異常症", "label_en": "Other disorder of neurotransmitter metabolism and transport", "label_hira": "122から127までにかかげるもののほか、しんけいでんたつぶっしついじょうしょう", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200612", "id": "NANDO:2200612", "label_ja": "巨赤芽球性貧血", "label_en": "Megaloblastic anemia", "label_hira": "きょせきがきゅうせいひんけつ", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200622", "id": "NANDO:2200622", "label_ja": "遺伝性球状赤血球症", "label_en": "Hereditary spherocytosis", "label_hira": "いでんせいきゅうじょうせっけっきゅうしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200653", "id": "NANDO:2200653", "label_ja": "周期性血小板減少症", "label_en": "Cyclic thrombocytopenia", "label_hira": "しゅうきせいけっしょうばんげんしょうしょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200663", "id": "NANDO:2200663", "label_ja": "常染色体優性遺伝性血小板減少症", "label_en": "Autosomal dominant thrombocytopenia 2", "label_hira": "じょうせんしょくたいゆうせいいでんせいけっしょうばんげんしょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200682", "id": "NANDO:2200682", "label_ja": "フォンウィルブランド病", "label_en": "Von Willebrand disease", "label_hira": "ふぉんうぃるぶらんどびょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200684", "id": "NANDO:2200684", "label_ja": "先天性プレカリクレイン欠乏症", "label_en": "Congenital prekallikrein deficiency", "label_hira": "せんてんせいぷれかりくれいんけつぼうしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200699", "id": "NANDO:2200699", "label_ja": "CD8欠損症", "label_en": "CD8 deficiency", "label_hira": "しーでぃー8けっそんしょう", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200700", "id": "NANDO:2200700", "label_ja": "ZAP-70欠損症", "label_en": "ZAP-70 deficiency", "label_hira": "ざっぷ70けっそんしょう", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200720", "id": "NANDO:2200720", "label_ja": "選択的IgA欠損症", "label_en": "Selective IgA deficiency", "label_hira": "せんたくてきあいじーえーけっそんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200730", "id": "NANDO:2200730", "label_ja": "Syntaxin11欠損症", "label_en": "Syntaxin 11 deficiency", "label_hira": "しんたきしん11けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200741", "id": "NANDO:2200741", "label_ja": "FADD欠損症", "label_en": "Fas-associated death domain protein deficiency", "label_hira": "えふえーでぃーでぃーけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200755", "id": "NANDO:2200755", "label_ja": "白血球接着不全症", "label_en": "Leukocyte adhesion deficiency", "label_hira": "はっけっきゅうせっちゃくふぜんしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200768", "id": "NANDO:2200768", "label_ja": "疣贅状表皮発育異常症", "label_en": "Epidermodysplasia verruciformis", "label_hira": "ゆうぜいじょうひょうひはついくいじょうしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200782", "id": "NANDO:2200782", "label_ja": "C3 欠損症", "label_en": "C3 deficiency", "label_hira": "しー3けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200790", "id": "NANDO:2200790", "label_ja": "Factor I 欠損症", "label_en": "Factor In deficiency", "label_hira": "ふぁくたーあいけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200791", "id": "NANDO:2200791", "label_ja": "Factor H 欠損症", "label_en": "Factor H deficiency", "label_hira": "ふぁくたーえいちけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200800", "id": "NANDO:2200800", "label_ja": "Thrombomodulin欠損症", "label_en": "Thrombomodulin deficiency", "label_hira": "とろんぼもじゅりんけっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200831", "id": "NANDO:2200831", "label_ja": "ウェルナー症候群", "label_en": "Werner syndrome", "label_hira": "うぇるなーしょうこうぐん", "notification_number": "59", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200882", "id": "NANDO:2200882", "label_ja": "脊髄小脳変性症", "label_en": "spinocerebellar degeneration", "label_hira": "せきずいしょうのうへんせいしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200891", "id": "NANDO:2200891", "label_ja": "先天性サイトメガロウイルス感染症", "label_en": "Congenital cytomegalovirus infection", "label_hira": "せんてんせいさいとめがろういるすかんせんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200893", "id": "NANDO:2200893", "label_ja": "エカルディ・グティエール症候群", "label_en": "Aicardi-Goutières Syndrome", "label_hira": "えかるでぃ・ぐてぃえーるしょうこうぐん", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200894", "id": "NANDO:2200894", "label_ja": "RNASEH2B欠損症", "label_en": "Aicardi-Goutieres syndrome 2", "label_hira": "あーるえぬえーえすいーえいち2びーけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200664", "id": "NANDO:2200664", "label_ja": "GPIIb/IIIa異常症", "label_en": "ITGA2B/ITGB3 mutations", "label_hira": "", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200900", "id": "NANDO:2200900", "label_ja": "ラスムッセン脳炎", "label_en": "Rasmussen's encephalitis", "label_hira": "らすむっせんのうえん", "notification_number": "104", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200916", "id": "NANDO:2200916", "label_ja": "若年性ポリポーシス", "label_en": "Juvenile polyposis", "label_hira": "じゃくねんせいぽりぽーしす", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200928", "id": "NANDO:2200928", "label_ja": "自己免疫性肝炎", "label_en": "Autoimmune hepatitis", "label_hira": "じこめんえきせいかんえん", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200929", "id": "NANDO:2200929", "label_ja": "原発性硬化性胆管炎", "label_en": "Primary sclerosing cholangitis", "label_hira": "げんぱつせいこうかせいたんかんえん", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200930", "id": "NANDO:2200930", "label_ja": "胆道閉鎖症", "label_en": "biliary atresia", "label_hira": "たんどうへいさしょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200932", "id": "NANDO:2200932", "label_ja": "肝内胆管減少症", "label_en": "Non-syndromic paucity of intrahepatic bile duct", "label_hira": "かんないたんかんげんしょうしょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200939", "id": "NANDO:2200939", "label_ja": "先天性門脈欠損症", "label_en": "Congenital absence of portal vein", "label_hira": "せんてんせいもんみゃくけっそんしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200943", "id": "NANDO:2200943", "label_ja": "自己免疫性膵炎", "label_en": "Autoimmune pancreatitis", "label_hira": "じこめんえきせいすいえん", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200946", "id": "NANDO:2200946", "label_ja": "慢性特発性偽性腸閉塞症", "label_en": "Chronic idiopathic intestinal pseudo-obstruction", "label_hira": "まんせいとくはつせいぎせいちょうへいそくしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200955", "id": "NANDO:2200955", "label_ja": "ルビンシュタイン・テイビ症候群", "label_en": "Rubinstein-Taybi syndrome", "label_hira": "るびんしゅたいん・ていびしょうこうぐん", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200959", "id": "NANDO:2200959", "label_ja": "ベックウィズ・ヴィーデマン症候群", "label_en": "Beckwith-Wiedemann syndrome", "label_hira": "べっくうぃず・びーでまんしょうこうぐん", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200965", "id": "NANDO:2200965", "label_ja": "ダウン症候群", "label_en": "Down syndrome", "label_hira": "だうんしょうこうぐん", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200981", "id": "NANDO:2200981", "label_ja": "モワット・ウィルソン症候群", "label_en": "Mowat-Wilson syndrome", "label_hira": "もわっと・うぃるそんしょうこうぐん", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201013", "id": "NANDO:2201013", "label_ja": "大理石骨病", "label_en": "Osteopetrosis", "label_hira": "だいりせきこつびょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201014", "id": "NANDO:2201014", "label_ja": "多発性軟骨性外骨腫症", "label_en": "Multiple cartilaginous exostosis", "label_hira": "たはつせいなんこつせいがいこつしゅしょう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201015", "id": "NANDO:2201015", "label_ja": "内軟骨腫症", "label_en": "Enchondromatosis", "label_hira": "ないなんこつしゅしょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201069", "id": "NANDO:2201069", "label_ja": "MODY1", "label_en": "Maturity-onset diabetes of the young type 1", "label_hira": "えむおーでぃーわい1", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201073", "id": "NANDO:2201073", "label_ja": "MODY5", "label_en": "Maturity-onset diabetes of the young type 5", "label_hira": "えむおーでぃーわい5", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201082", "id": "NANDO:2201082", "label_ja": "慢性進行型ホモシスチン尿症", "label_en": "Chronic progressive homocystinuria", "label_hira": "まんせいしんこうがたほもしすちんにょうしょう", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201083", "id": "NANDO:2201083", "label_ja": "ビタミンB6反応型ホモシスチン尿症", "label_en": "vitamin B6-responsive homocystinuria", "label_hira": "びたみんびー6はんのうがたほもしすちんにょうしょう", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201087", "id": "NANDO:2201087", "label_ja": "発症前型カルバミルリン酸合成酵素欠損症", "label_en": "Presymptomatic carbamoylphosphate synthetase deficiency", "label_hira": "はっしょうまえがたかるばみるりんさんごうせいこうそけっそんしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201099", "id": "NANDO:2201099", "label_ja": "発症前型高アルギニン血症", "label_en": "Presymptomatic hyperargininemia", "label_hira": "はっしょうまえがたこうあるぎにんけっしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201118", "id": "NANDO:2201118", "label_ja": "慢性進行型イソ吉草酸血症", "label_en": "Isovaleric acidemia, chronic progressive form", "label_hira": "まんせいしんこうがたいそきっそうさんけっしょう", "notification_number": "95", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201127", "id": "NANDO:2201127", "label_ja": "発症前型カルニチンパルミトイルトランスフェラーゼI欠損症", "label_en": "Presymptomatic carnitine palmitoyltransferase I deficiency", "label_hira": "はっしょうまえがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201128", "id": "NANDO:2201128", "label_ja": "新生児期発症型カルニチンパルミトイルトランスフェラーゼI欠損症", "label_en": "Neonatal-onset carnitine palmitoyltransferase I deficiency", "label_hira": "しんせいじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201131", "id": "NANDO:2201131", "label_ja": "発症前型カルニチンパルミトイルトランスフェラーゼII欠損症", "label_en": "Presymptomatic carnitine palmitoyltransferase II deficiency", "label_hira": "はっしょうまえがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201133", "id": "NANDO:2201133", "label_ja": "乳児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症", "label_en": "Infantile-onset carnitine palmitoyl transferase II deficiency", "label_hira": "にゅうじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201137", "id": "NANDO:2201137", "label_ja": "乳児期発症型カルニチンアシルカルニチントランスロカーゼ欠損症", "label_en": "Infantile-onset carnitine-acylcarnitine translocase deficiency", "label_hira": "にゅうじきはっしょうがたかるにちんあしるかるにちんとらんすろかーぜけっそんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201142", "id": "NANDO:2201142", "label_ja": "遅発型極長鎖アシルCoA脱水素酵素欠損症", "label_en": "Late-onset very-long-chain acyl-CoA dehydrogenase deficiency", "label_hira": "ちはつがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201153", "id": "NANDO:2201153", "label_ja": "糖原病Ia型", "label_en": "Glycogen storage disease type 1a", "label_hira": "とうげんびょう1えーがた", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201162", "id": "NANDO:2201162", "label_ja": "幼児筋・肝型糖原病IV型", "label_en": "Glycogen storage disease type IV, childhood combined hepatic and myopathic form", "label_hira": "ようじきん・かんがたとうげんびょう4がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201170", "id": "NANDO:2201170", "label_ja": "Hurler-Scheie病", "label_en": "Hurler-Scheie disease", "label_hira": "はーらーしゃいえびょう", "notification_number": "129", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201174", "id": "NANDO:2201174", "label_ja": "A型ムコ多糖症III型", "label_en": "Mucopolysaccharidosis type III A", "label_hira": "えーがたむこたとうしょう3がた", "notification_number": "131", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201175", "id": "NANDO:2201175", "label_ja": "B型ムコ多糖症III型", "label_en": "Mucopolysaccharidosis type III B", "label_hira": "びーがたむこたとうしょう3がた", "notification_number": "131", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201177", "id": "NANDO:2201177", "label_ja": "D型ムコ多糖症III型", "label_en": "Mucopolysaccharidosis type III D", "label_hira": "でぃーがたむこたとうしょう3がた", "notification_number": "131", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201201", "id": "NANDO:2201201", "label_ja": "AB型GM2ガングリオシドーシス", "label_en": "GM2 gangliosidosis AB variant", "label_hira": "えーびーがたじーえむ2がんぐりおしどーしす", "notification_number": "119", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201039", "id": "NANDO:2201039", "label_ja": "obsolete 気管支狭窄症", "label_en": "obsolete Bronchial stenosis", "label_hira": "きかんしきょうさくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201233", "id": "NANDO:2201233", "label_ja": "コレステロールエステル蓄積症", "label_en": "Cholesterol ester storage disease", "label_hira": "これすてろーるえすてるちくせきしょう", "notification_number": "116", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201238", "id": "NANDO:2201238", "label_ja": "中間型遊離シアル酸蓄積症", "label_en": "Intermediate severe Salla disease", "label_hira": "ちゅうかんがたゆうりしあるさんちくせきしょう", "notification_number": "137", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201269", "id": "NANDO:2201269", "label_ja": "X連鎖優性プロトポルフィリン症", "label_en": "X-linked dominant protoporphyria", "label_hira": "えっくすれんさゆうせいぷろとぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201278", "id": "NANDO:2201278", "label_ja": "肝炎後再生不良性貧血", "label_en": "Hepatitis-associated aplastic anemia", "label_hira": "かんえんごさいせいふりょうせいひんけつ", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201298", "id": "NANDO:2201298", "label_ja": "脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病", "label_en": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease", "label_hira": "だつずいがたまっしょうしんけいしょうがい、ちゅうすうせいずいしょうけいせいふぜんしょう、わーでんばーぐしょうこうぐん、ひるしゅすぷるんぐびょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201307", "id": "NANDO:2201307", "label_ja": "アペール症候群（矢状縫合）", "label_en": "Apert syndrome (sagittal synostosis)", "label_hira": "あぺーるしょうこうぐん（しじょうほうごう）", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200006", "id": "NANDO:1200006", "label_ja": "脊髄性筋萎縮症III型", "label_en": "Spinal muscular atrophy type III", "label_hira": "せきずいせいきんいしゅくしょう3がた", "notification_number": "3", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200019", "id": "NANDO:1200019", "label_ja": "中間型シャルコー・マリー・トゥース病", "label_en": "Intermediate Charcot-Marie-Tooth disease", "label_hira": "ちゅうかんがたしゃるこー・まりー・とぅーすびょう", "notification_number": "10", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200020", "id": "NANDO:1200020", "label_ja": "重症筋無力症", "label_en": "Myasthenia gravis", "label_hira": "じゅうしょうきんむりょくしょう", "notification_number": "11", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200022", "id": "NANDO:1200022", "label_ja": "多発性硬化症／視神経脊髄炎", "label_en": "Multiple sclerosis/Neuromyelitis optica spectrum disorders", "label_hira": "たはつせいこうかしょう／ししんけいせきずいえん", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200030", "id": "NANDO:1200030", "label_ja": "慢性炎症性脱髄性多発神経炎", "label_en": "Chronic inflammatory demyelinating polyneuropathy", "label_hira": "まんせいえんしょうせいだつずいせいたはつしんけいえん", "notification_number": "14", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200039", "id": "NANDO:1200039", "label_ja": "皮質性小脳萎縮症", "label_en": "Cortical cerebellar atrophy", "label_hira": "ひしつせいしょうのういしゅくしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200041", "id": "NANDO:1200041", "label_ja": "脊髄小脳失調症3型", "label_en": "Spinocerebellar ataxia type 3", "label_hira": "せきずいしょうのうしっちょうしょう3がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200045", "id": "NANDO:1200045", "label_ja": "脊髄小脳失調症1型", "label_en": "Spinocerebellar ataxia type 1", "label_hira": "せきずいしょうのうしっちょうしょう1がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200076", "id": "NANDO:1200076", "label_ja": "若年型クラッベ病", "label_en": "Juvenile Krabbe disease", "label_hira": "じゃくねんがたくらっべびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200089", "id": "NANDO:1200089", "label_ja": "軽症型ファーバー病", "label_en": "Type 3 Farber disease", "label_hira": "けいしょうがたふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200097", "id": "NANDO:1200097", "label_ja": "Hunter症候群", "label_en": "Hunter syndrome", "label_hira": "はんたーしょうこうぐん", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200116", "id": "NANDO:1200116", "label_ja": "シアリドーシス", "label_en": "Sialidosis", "label_hira": "しありどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200119", "id": "NANDO:1200119", "label_ja": "ガラクトシアリドーシス", "label_en": "Galactosialidosis", "label_hira": "がらくとしありどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200125", "id": "NANDO:1200125", "label_ja": "ムコリピドーシスIII型", "label_en": "Mucolipidosis III", "label_hira": "むこりぴどーしす3がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200132", "id": "NANDO:1200132", "label_ja": "軽症型フコシドーシス", "label_en": "Fucosidosis, milder form", "label_hira": "けいしょうがたふこしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200134", "id": "NANDO:1200134", "label_ja": "シンドラー病", "label_en": "Schindler disease", "label_hira": "しんどらーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200140", "id": "NANDO:1200140", "label_ja": "小児型ポンペ病", "label_en": "Childhood-onset Pompe disease", "label_hira": "しょうにがたぽんぺびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200154", "id": "NANDO:1200154", "label_ja": "若年型神経セロイドリポフスチン症", "label_en": "Juvenile neuronal ceroid lipofuscinosis", "label_hira": "じゃくねんがたしんけいせろいどりぽふすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200155", "id": "NANDO:1200155", "label_ja": "成人型神経セロイドリポフスチン症", "label_en": "Adult neuronal ceroid lipofuscinosis", "label_hira": "せいじんがたしんけいせろいどりぽふすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200160", "id": "NANDO:1200160", "label_ja": "ファブリー病顕性ヘテロ接合体", "label_en": "Heterozygous Fabry disease", "label_hira": "ふぁぶりーびょうけんせいへてろせつごうたい", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200162", "id": "NANDO:1200162", "label_ja": "腎型シスチン症", "label_en": "Nephropathic cystinosis", "label_hira": "じんがたしすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200163", "id": "NANDO:1200163", "label_ja": "中間型シスチン症", "label_en": "Intermediate cystinosis", "label_hira": "ちゅうかんがたしすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200180", "id": "NANDO:1200180", "label_ja": "複合体I欠損症", "label_en": "Mitochondrial complex I deficiency", "label_hira": "ふくごうたい1けっそんしょう", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200188", "id": "NANDO:1200188", "label_ja": "遺伝性プリオン病", "label_en": "Genetic prion diseases", "label_hira": "いでんせいぷりおんびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200222", "id": "NANDO:1200222", "label_ja": "ダノン病", "label_en": "Danon disease", "label_hira": "だのんびょう", "notification_number": "32", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200260", "id": "NANDO:1200260", "label_ja": "巨細胞性動脈炎（頭蓋領域の動脈に限局せず大動脈・総頸動脈・鎖骨下動脈などにも分布）", "label_en": "Large-vessel giant cell arteritis", "label_hira": "きょさいぼうせいどうみゃくえん（ずがいりょういきのどうみゃくにげんきょくせずだいどうみゃく・そうけいどうみゃく・さこつかどうみゃくなどにもぶんぷ）", "notification_number": "41", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200291", "id": "NANDO:1200291", "label_ja": "拡張相肥大型心筋症", "label_en": "Dilated phase of hypertrophic cardiomyopathy", "label_hira": "かくちょうそうひだいがたしんきんしょう", "notification_number": "58", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200296", "id": "NANDO:1200296", "label_ja": "特発性再生不良性貧血", "label_en": "Idiopathic aplastic anemia", "label_hira": "とくはつせいさいせいふりょうせいひんけつ", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200305", "id": "NANDO:1200305", "label_ja": "自己免疫性溶血性貧血", "label_en": "Autoimmune hemolytic anemia", "label_hira": "じこめんえきせいようけつせいひんけつ", "notification_number": "61", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200311", "id": "NANDO:1200311", "label_ja": "発作性夜間ヘモグロビン尿症", "label_en": "Paroxysmal nocturnal hemoglobinuria", "label_hira": "ほっさせいやかんへもぐろびんにょうしょう", "notification_number": "62", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100001", "id": "NANDO:1100001", "label_ja": "神経・筋疾患", "label_en": "Neuromuscular disease", "label_hira": "しんけい・きんしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100014", "id": "NANDO:1100014", "label_ja": "染色体または遺伝子に変化を伴う症候群", "label_en": "Chromosome abnormality", "label_hira": "せんしょくたいまたはいでんしにへんかをともなうしょうこうぐん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200145", "id": "NANDO:1200145", "label_ja": "obsolete ダノン病", "label_en": "obsolete Danon disease", "label_hira": "だのんびょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200321", "id": "NANDO:1200321", "label_ja": "X連鎖重症複合免疫不全症", "label_en": "X-linked severe combined immunodeficiency", "label_hira": "えっくすれんさじゅうしょうふくごうめんえきふぜんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200329", "id": "NANDO:1200329", "label_ja": "MHCクラスII欠損症", "label_en": "MHC class II deficiency", "label_hira": "えむえいちしーくらす2けっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200333", "id": "NANDO:1200333", "label_ja": "ブルーム症候群", "label_en": "Bloom syndrome", "label_hira": "ぶるーむしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200343", "id": "NANDO:1200343", "label_ja": "X連鎖無ガンマグロブリン血症", "label_en": "X-linked agammaglobulinemia", "label_hira": "えっくすれんさむがんまぐろぶりんけっしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200344", "id": "NANDO:1200344", "label_ja": "分類不能型免疫不全症", "label_en": "Common variable immunodeficiency", "label_hira": "ぶんるいふのうがためんえきふぜんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200367", "id": "NANDO:1200367", "label_ja": "多発性嚢胞腎", "label_en": "Polycystic kidney disease", "label_hira": "たはつせいのうほうじん", "notification_number": "67", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200393", "id": "NANDO:1200393", "label_ja": "プロラクチン分泌低下症", "label_en": "Syndrome of abnormal secretion of prolactin", "label_hira": "ぷろらくちんぶんぴつていかしょう", "notification_number": "78", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200406", "id": "NANDO:1200406", "label_ja": "IMAge症候群", "label_en": "IMAge syndrome", "label_hira": "いめーじしょうこうぐん", "notification_number": "82", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200416", "id": "NANDO:1200416", "label_ja": "特発性間質性肺炎", "label_en": "Idiopathic interstitial pneumonia", "label_hira": "とくはつせいかんしつせいはいえん", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200458", "id": "NANDO:1200458", "label_ja": "慢性特発性偽性腸閉塞症", "label_en": "Chronic idiopathic intestinal pseudo-obstruction", "label_hira": "まんせいとくはつせいぎせいちょうへいそくしょう", "notification_number": "99", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200484", "id": "NANDO:1200484", "label_ja": "全タイプ１線維ミオパチー", "label_en": "Type 1 fiber predominance myopathy", "label_hira": "ぜんたいぷ1せんいみおぱちー", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200487", "id": "NANDO:1200487", "label_ja": "ジストロフィン異常症", "label_en": "Dystrophinopathies", "label_hira": "じすとろふぃんいじょうしょう", "notification_number": "113", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200524", "id": "NANDO:1200524", "label_ja": "急性発症ジストニア・パーキンソニズム", "label_en": "Rapid-onset dystonia-parkinsonism", "label_hira": "きゅうせいはっしょうじすとにあ・ぱーきんそにずむ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200536", "id": "NANDO:1200536", "label_ja": "パントテン酸キナーゼ変異に伴う神経変性症（非典型例）", "label_en": "Atypical pantothenate kinase-associated neurodegeneration", "label_hira": "ぱんとてんさんきなーぜへんいにともなうしんけいへんせいしょう（ひてんけいれい）", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200537", "id": "NANDO:1200537", "label_ja": "脳内鉄沈着神経変性症2型", "label_en": "Neurodegeneration with brain iron accumulation type 2", "label_hira": "のうないてつちんちゃくしんけいへんせいしょうにがた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200579", "id": "NANDO:1200579", "label_ja": "18q欠失症候群", "label_en": "18q-syndrome", "label_hira": "18きゅーけっしつしょうこうぐん", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200580", "id": "NANDO:1200580", "label_ja": "アラン・ハーンドン・タドリー症候群", "label_en": "Allan-Herndon-Dudley syndrome", "label_hira": "あらん・はーんどん・たどりーしょうこうぐん", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200616", "id": "NANDO:1200616", "label_ja": "先天性魚鱗癬様紅皮症", "label_en": "Congenital ichthyosiform erythroderma", "label_hira": "せんてんせいぎょりんせんようこうひしょう", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200625", "id": "NANDO:1200625", "label_ja": "X連鎖性劣性魚鱗癬症候群", "label_en": "Recessive X-linked ichtyosis", "label_hira": "えっくすれんさせいれっせいぎょりんせんしょうこうぐん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200644", "id": "NANDO:1200644", "label_ja": "マルファン症候群／ロイス・ディーツ症候群", "label_en": "Marfan syndrome/Loeys-Dietz Syndrome", "label_hira": "まるふぁんしょうこうぐん／ろいす・でぃーつしょうこうぐん", "notification_number": "167", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200382", "id": "NANDO:1200382", "label_ja": "obsolete 特発性ゴナドトロピン分泌低下症", "label_en": "obsolete Idiopathic hypogonadotropic hypogonadism", "label_hira": "とくはつせいごなどとろぴんぶんぴつていかしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200655", "id": "NANDO:1200655", "label_ja": "ウィルソン病", "label_en": "Wilson disease", "label_hira": "うぃるそんびょう", "notification_number": "171", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200676", "id": "NANDO:1200676", "label_ja": "ウェルナー症候群", "label_en": "Werner syndrome", "label_hira": "うぇるなーしょうこうぐん", "notification_number": "191", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200681", "id": "NANDO:1200681", "label_ja": "ヤング・シンプソン症候群", "label_en": "Young-Simpson syndrome", "label_hira": "やんぐ・しんぷそんしょうこうぐん", "notification_number": "196", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200689", "id": "NANDO:1200689", "label_ja": "エマヌエル症候群", "label_en": "Emanuel syndrome", "label_hira": "えまぬえるしょうこうぐん", "notification_number": "204", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200690", "id": "NANDO:1200690", "label_ja": "脆弱Ｘ症候群関連疾患", "label_en": "Fragile X syndrome related diseases", "label_hira": "ぜいじゃくえっくすしょこうぐんかんれんしっかん", "notification_number": "205", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200714", "id": "NANDO:1200714", "label_ja": "急速進行性糸球体腎炎", "label_en": "Rapidly progressive glomerulonephritis", "label_hira": "きゅうそくしんこうせいしきゅうたいじんえん", "notification_number": "220", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200739", "id": "NANDO:1200739", "label_ja": "一次性膜性増殖性糸球体腎炎II型", "label_en": "Primary membranoproliferative glomerulonephritis type II", "label_hira": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん2がた", "notification_number": "223", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200763", "id": "NANDO:1200763", "label_ja": "根性点状軟骨異形成症1型", "label_en": "Rhizomelic chondrodysplasia punctata type 1", "label_hira": "こんじょうてんじょうなんこついけいせいしょう1がた", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200765", "id": "NANDO:1200765", "label_ja": "アシル CoA オキシダーゼ欠損症 ", "label_en": "Peroxisomal acyl-CoA oxidase deficiency", "label_hira": "あしる こえーおきしだーぜけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200772", "id": "NANDO:1200772", "label_ja": "根性点状軟骨異形成症3型", "label_en": "Rhizomelic chondrodysplasia punctata type 3", "label_hira": "こんじょうてんじょうなんこついけいせいしょう3がた", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200805", "id": "NANDO:1200805", "label_ja": "古典型シトルリン血症", "label_en": "Classic citrullinemia", "label_hira": "こてんがたしとるりんけっしょう", "notification_number": "251", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200818", "id": "NANDO:1200818", "label_ja": "X連鎖優性プロトポルフィリン症", "label_en": "X-linked dominant protoporphyria", "label_hira": "えっくすれんさゆうせいぷろとぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200829", "id": "NANDO:1200829", "label_ja": "筋型糖原病VII型", "label_en": "Glycogen storage diseases type VII", "label_hira": "きんがたとうげんびょう7がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200857", "id": "NANDO:1200857", "label_ja": "無βリポタンパク血症", "label_en": "Abetalipoproteinemia", "label_hira": "むべーたりぽたんぱくけっしょう", "notification_number": "264", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200886", "id": "NANDO:1200886", "label_ja": "先天性赤血球形成異常性貧血 Type I", "label_en": "Congenital dyserythropoietic anemia type I", "label_hira": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ たいぷ1", "notification_number": "282", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200911", "id": "NANDO:1200911", "label_ja": "先天性横隔膜ヘルニア", "label_en": "Congenital diaphragmatic hernia", 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"http://nanbyodata.jp/ontology/NANDO_1200986", "id": "NANDO:1200986", "label_ja": "乳児型非ケトーシス型高グリシン血症", "label_en": "Infantile nonketotic hyperglycinemia", "label_hira": "にゅうじがたひけとーしすがたこうぐりしんけっしょう", "notification_number": "321", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200999", "id": "NANDO:1200999", "label_ja": "特発性血栓症", "label_en": "Idiopathic thrombosis (due to inherited predisposition to thrombosis) (neonates, infants)", "label_hira": "とくはつせいけっせんしょう", "notification_number": "327", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201012", "id": "NANDO:1201012", "label_ja": "単周期性全身型成人スチル病", "label_en": "Monocyclic adult onset Still's disease", "label_hira": "たんしゅうきせいぜんしんがたせいじんすちるびょう", "notification_number": "54", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201020", "id": "NANDO:1201020", "label_ja": "肝型糖原病IX型", "label_en": "Hepatic glycogen storage disease type IX", "label_hira": "かんがたとうげんびょう9がた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201035", "id": "NANDO:1201035", "label_ja": "クレアチントランスポーター欠損症", "label_en": "Creatine transporter deficiency", "label_hira": "くれあちんとらんすぽーたーけっそんしょう", "notification_number": "334", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201042", "id": "NANDO:1201042", "label_ja": "進行性家族性肝内胆汁うっ滞症", "label_en": "Progressive familial intrahepatic cholestasis", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201048", "id": "NANDO:1201048", "label_ja": "自己免疫性後天性凝固第X因子欠乏症", "label_en": "Acquired factor X inhibitor", "label_hira": "じこめんえきせいこうてんせいぎょうこだい10いんしけつぼうしょう", "notification_number": "288", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201050", "id": "NANDO:1201050", "label_ja": "COACH症候群", "label_en": "COACH syndrome", "label_hira": "しーおーえーしーえいちしょうこうぐん", "notification_number": "177", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201052", "id": "NANDO:1201052", "label_ja": "終板アセチルコリン受容体欠損症", "label_en": "End-plate acetylcholine receptor deficiency", "label_hira": "しゅうばんあせちるこりんじゅようたいけっそんしょう", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201063", "id": "NANDO:1201063", "label_ja": "家族性アミロイドニューロパチーIV型", "label_en": "Familial amyloid polyneuropathy type 4", "label_hira": "かぞくせいあみろいどにゅーろぱちー4がた", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201088", "id": "NANDO:1201088", "label_ja": "脊椎異形成型エーラス・ダンロス症候群", "label_en": "Spondylodysplastic Ehlers-Danlos syndrome", "label_hira": "せきついいけいがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100017", "id": "NANDO:2100017", "label_ja": "腎静脈血栓症", "label_en": "Renal vein thrombosis", "label_hira": "じんじょうみゃくけっせんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100018", "id": "NANDO:2100018", "label_ja": "腎動静脈瘻", "label_en": "Renal arteriovenous fistula", "label_hira": "じんどうじょうみゃくろう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100019", "id": "NANDO:2100019", "label_ja": "尿細管性アシドーシス", "label_en": "Renal tubular acidosis", "label_hira": "にょうさいかんせいあしどーしす", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100027", "id": "NANDO:2100027", "label_ja": "ファンコーニ症候群", "label_en": "Fanconi syndrome", "label_hira": "ふぁんこーにしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100032", "id": "NANDO:2100032", "label_ja": "先天性中枢性低換気症候群", "label_en": "Congenital central hypoventilation syndrome", "label_hira": "せんてんせいちゅうすうせいていかんきしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100042", "id": "NANDO:2100042", "label_ja": "慢性心疾患", "label_en": "Chronic heart disease", "label_hira": "まんせいしんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100060", "id": "NANDO:2100060", "label_ja": "心内膜線維弾性症", "label_en": "Endocardial fibroelastosis", "label_hira": "しんないまくせんいだんせいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100064", "id": "NANDO:2100064", "label_ja": "収縮性心膜炎", "label_en": "Constrictive pericarditis", "label_hira": "しゅうしゅくせいしんまくえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100073", "id": "NANDO:2100073", "label_ja": "三尖弁閉鎖症", "label_en": "Tricuspid atresia", "label_hira": "さんせんべんへいさしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100076", "id": "NANDO:2100076", "label_ja": "両大血管右室起始症", "label_en": "Double outlet right ventricle", "label_hira": "りょうだいけっかんうしつきししょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100087", "id": "NANDO:2100087", "label_ja": "心室中隔欠損症", "label_en": "Ventricular septal defect", "label_hira": "しんしつちゅうかくけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100090", "id": "NANDO:2100090", "label_ja": "左室右房交通症", "label_en": "Left ventricular-right atrial communication", "label_hira": "さしつうぼうこうつうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100091", "id": "NANDO:2100091", "label_ja": "右室二腔症", "label_en": "Double-chambered right ventricle", "label_hira": "うしつにくうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100114", "id": "NANDO:2100114", "label_ja": "成長ホルモン不応性症候群", "label_en": "Growth hormone insensitivity", "label_hira": "せいちょうほるもんふおうせいしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100115", "id": "NANDO:2100115", "label_ja": "高プロラクチン血症", "label_en": "Hyperprolactinemia", "label_hira": "こうぷろらくちんけっしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100123", "id": "NANDO:2100123", "label_ja": "副甲状腺機能亢進症", "label_en": "Hyperparathyroidism", "label_hira": "ふくこうじょうせんきのうこうしんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100141", "id": "NANDO:2100141", "label_ja": "消化管ホルモン産生腫瘍", "label_en": "Gastrointestinal Hormone Producing Tumors", "label_hira": "しょうかかんほるもんさんせいしゅよう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100151", "id": "NANDO:2100151", "label_ja": "膠原病", "label_en": "Collagen disease", "label_hira": "こうげんびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100152", "id": "NANDO:2100152", "label_ja": "膠原病疾患", "label_en": "Collagen disease", "label_hira": "こうげんびょうしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100157", "id": "NANDO:2100157", "label_ja": "糖尿病", "label_en": "Diabetes", "label_hira": "とうにょうびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100159", "id": "NANDO:2100159", "label_ja": "先天性代謝異常", "label_en": "Inborn errors of metabolism", "label_hira": "せんてんせいたいしゃいじょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100179", "id": "NANDO:2100179", "label_ja": "鉄芽球性貧血", "label_en": "Sideroblastic anemia", "label_hira": "てつがきゅうせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100180", "id": "NANDO:2100180", "label_ja": "無トランスフェリン血症", "label_en": "Congenital atransferrinemia", "label_hira": "むとらんすふぇりんけっしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100187", "id": "NANDO:2100187", "label_ja": "家族性赤血球増加症", "label_en": "Familial polycythemia", "label_hira": "かぞくせいせっけっきゅうぞうかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100197", "id": "NANDO:2100197", "label_ja": "先天性プロテインC欠乏症", "label_en": "Protein C deficiency", "label_hira": "せんてんせいぷろていんしーけつぼうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200013", "id": "NANDO:2200013", "label_ja": "慢性骨髄性白血病", "label_en": "Chronic myeloid leukemia", "label_hira": "まんせいこつずいせいはっけつびょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200021", "id": 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"label_en": "Total anomalous pulmonary venous connection", "label_hira": "そうはいじょうみゃくかんりゅういじょうしょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200276", "id": "NANDO:2200276", "label_ja": "肺動脈弁下狭窄症", "label_en": "Subvalvular pulmonary stenosis", "label_hira": "はいどうみゃくべんかきょうさくしょう", "notification_number": "86", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200277", "id": "NANDO:2200277", "label_ja": "大動脈弁下狭窄症", "label_en": "Subvalvular aortic stenosis", "label_hira": "だいどうみゃくべんかきょうさくしょう", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200286", "id": "NANDO:2200286", "label_ja": "ウィリアムズ症候群", "label_en": "Williams syndrome", "label_hira": "うぃりあむずしょうこうぐん", "notification_number": "58", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200293", "id": "NANDO:2200293", "label_ja": "バルサルバ洞動脈瘤", "label_en": "Aneurysm of sinus valsalva", "label_hira": "ばるさるばどうどうみゃくりゅう", "notification_number": "66", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200295", "id": "NANDO:2200295", "label_ja": "肺動静脈瘻", "label_en": "Pulmonary arteriovenous fistulae", "label_hira": "はいどうじょうみゃくろう", "notification_number": "70", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200321", "id": "NANDO:2200321", "label_ja": "成長ホルモン不応性症候群", "label_en": "Growth hormone insensitivity", "label_hira": "せいちょうほるもんふおうせいしょうこうぐん", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200323", "id": "NANDO:2200323", "label_ja": "抗利尿ホルモン不適切分泌症候群", "label_en": "Syndrome of inappropriate secretion of antidiuretic hormone", "label_hira": "こうりにょうほるもんふてきせつぶんぴつしょうこうぐん", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200326", "id": "NANDO:2200326", "label_ja": "腎性尿崩症", "label_en": "Nephrogenic diabetes insipidus", "label_hira": "じんせいにょうほうしょう", "notification_number": "74", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200329", "id": "NANDO:2200329", "label_ja": "甲状腺機能亢進症", "label_en": "Hyperthyroidism", "label_hira": "こうじょうせんきのうこうしんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200331", "id": "NANDO:2200331", "label_ja": "無甲状腺症", "label_en": "Thyroid agenesis", "label_hira": "むこうじょうせんしょう", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200332", "id": "NANDO:2200332", "label_ja": "甲状腺刺激ホルモン分泌低下症", "label_en": "Thyroid-stimulating hormone deficiency", "label_hira": "こうじょうせんしげきほるもんぶんぴつていかしょう", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200360", "id": "NANDO:2200360", "label_ja": "アジソン病", "label_en": "Addison's disease", "label_hira": "あじそんびょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200369", "id": "NANDO:2200369", "label_ja": "偽性低アルドステロン症II型", "label_en": "Pseudohypoaldosteronism type II", "label_hira": "ぎせいていあるどすてろんしょう2がた", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200371", "id": "NANDO:2200371", "label_ja": "3β-ヒドロキシステロイド脱水素酵素欠損症", "label_en": "3 beta-hydroxysteroid dehydrogenase deficiency", "label_hira": "3べーたひどろきしすてろいどだっすいそこうそけっそんしょう", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200374", "id": "NANDO:2200374", "label_ja": "21-水酸化酵素欠損症", "label_en": "21-Hydroxylase deficiency", "label_hira": "21すいさんかこうそけっそんしょう", "notification_number": "59", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200399", "id": "NANDO:2200399", "label_ja": "先天性高インスリン血症", "label_en": "Congenital hyperinsulinemia", "label_hira": "せんてんせいこういんすりんけっしょう", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200428", "id": "NANDO:2200428", "label_ja": "再発性多発軟骨炎", "label_en": "Relapsing polychondritis", "label_hira": "さいはつせいたはつなんこつえん", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200429", "id": "NANDO:2200429", "label_ja": "全身性強皮症", "label_en": "Systemic sclerosis", "label_hira": "ぜんしんせいきょうひしょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200442", "id": "NANDO:2200442", "label_ja": "自己炎症合併フォスフォリパーゼCγ2関連抗体欠損免疫異常症", "label_en": "Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation", "label_hira": "じこえんしょうがっぺいふぉすふぉりぱーぜしーがんま2かんれんこうたいけっそんめんえきいじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200448", "id": "NANDO:2200448", "label_ja": "IL-10RB欠損症", "label_en": "IL-10RB deficiency", "label_hira": "あいえる10あーるびーけっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200458", "id": "NANDO:2200458", "label_ja": "A20ハプロ不全症", "label_en": "A20 haploinsufficiency", "label_hira": "えー20はぷろふぜんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200460", "id": "NANDO:2200460", "label_ja": "1型糖尿病", "label_en": "Diabetes mellitus type 1", "label_hira": "1がたとうにょうびょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200462", "id": "NANDO:2200462", "label_ja": "若年発症成人型糖尿病", "label_en": "Maturity-onset diabetes of the young", "label_hira": "じゃくねんはっしょうせいじんがたとうにょうびょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200464", "id": "NANDO:2200464", "label_ja": "インスリン受容体異常症", "label_en": "Insulin receptor abnormality", "label_hira": "いんすりんじゅようたいいじょうしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200476", "id": "NANDO:2200476", "label_ja": "非ケトーシス型高グリシン血症", "label_en": "Nonketotic hyperglycinemia", "label_hira": "ひけとーしすがたこうぐりしんけっしょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200483", "id": "NANDO:2200483", "label_ja": "シトリン欠損症", "label_en": "Citrin deficiency", "label_hira": "しとりんけっそんしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200484", "id": "NANDO:2200484", "label_ja": "高オルニチン血症", "label_en": "Hyperornithinemia", "label_hira": "こうおるにちんけっしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200495", "id": "NANDO:2200495", "label_ja": "3-メチルクロトニルCoAカルボキシラーゼ欠損症", "label_en": "3-methylcrotonyl-CoA carboxylase deficiency", "label_hira": "3めちるくろとにるこえーかるぼきしらーぜけっそんしょう", "notification_number": "103", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200506", "id": "NANDO:2200506", "label_ja": "先天性胆汁酸代謝異常症", "label_en": "Inborn errors of bile acid metabolism", "label_hira": "せんてんせいたんじゅうさんたいしゃいじょうしょう", "notification_number": "104", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200516", "id": "NANDO:2200516", "label_ja": "3-ヒドロキシアシルCoA脱水素酵素欠損症", "label_en": "3-hydroxy acyl-CoA dehydrogenase deficiency", "label_hira": "3ひどろきしあしるこえーだっすいそこうそけっそんしょう", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200542", "id": "NANDO:2200542", "label_ja": "糖原病VI型", "label_en": "Glycogen storage disease type VI", "label_hira": "とうげんびょう6がた", "notification_number": "67", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200557", "id": "NANDO:2200557", "label_ja": "ガラクトシアリドーシス", "label_en": "Galactosialidosis", "label_hira": "がらくとしありどーしす", "notification_number": "113", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200578", "id": "NANDO:2200578", "label_ja": "103から105までに掲げるもののほか、ペルオキシソーム病", "label_en": "Other peroxisomal diseases", "label_hira": "103から105までにかかげるもののほか、ぺるおきしそーむびょう", "notification_number": "84", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200589", "id": "NANDO:2200589", "label_ja": "尿酸トランスポーター異常症", "label_en": "Genetic defects in urate transporters", "label_hira": "にょうさんとらんすぽーたーいじょうしょう", "notification_number": "78", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200596", "id": "NANDO:2200596", "label_ja": "芳香族L-アミノ酸脱炭酸酵素欠損症", "label_en": "Aromatic L-amino acid decarboxylase deficiency", "label_hira": "ほうこうぞくえるあみのさんだつたんさんこうそけっそんしょう", "notification_number": "55", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200604", "id": "NANDO:2200604", "label_ja": "無βリポタンパク血症", "label_en": "Abetalipoproteinemia", "label_hira": "むべーたりぽたんぱくけっしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200630", "id": "NANDO:2200630", "label_ja": "遺伝性楕円赤血球症", "label_en": "Hereditary elliptocytosis", "label_hira": "いでんせいだえんせっけっきゅうしょう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200634", "id": "NANDO:2200634", "label_ja": "遺伝性高赤血球膜ホスファチジルコリン溶血性貧血", "label_en": "Xerocytosis with high phosphatidylcholine hemolytic anemia", "label_hira": "いでんせいこうせっけっきゅうまくほすふぁちじるこりんようけつせいひんけつ", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200640", "id": "NANDO:2200640", "label_ja": "志賀毒素産生腸管出血性病原大腸菌による溶血性尿毒症症候群", "label_en": "Shiga toxin-producing escherichia coli hemolytic uremic syndrome", "label_hira": "しがどくそさんせいちょうかんしゅっけつせいびょうげんだいちょうきんによるようけつせいにょうどくしょうしょうこうぐん", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200642", "id": "NANDO:2200642", "label_ja": "造血幹細胞移植後血栓性微小血管障害症", "label_en": "Stem cell transplant-associated thrombotic microangiopathy", "label_hira": "ぞうけつかんさいぼういしょくごけっせんせいびしょうけっかんしょうがいしょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200647", "id": "NANDO:2200647", "label_ja": "新生児同種免疫性血小板減少症", "label_en": "Neonatal alloimmune thrombocytopenia", "label_hira": "しんせいじどうしゅめんえきせいけっしょうばんげんしょうしょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200656", "id": "NANDO:2200656", "label_ja": "ベルナール・スーリエ症候群", "label_en": "Bernard-Soulier syndrome", "label_hira": "べるなーる・すーりえしょうこうぐん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200657", "id": "NANDO:2200657", "label_ja": "血小板無力症", "label_en": "Thrombasthenia", "label_hira": "けっしょうばんむりょくしょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200665", "id": "NANDO:2200665", "label_ja": "αアクチニン1異常症", "label_en": "ACTN1 mutations", "label_hira": "あるふぁあくちにん1いじょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200677", "id": "NANDO:2200677", "label_ja": "血友病Ｂ", "label_en": "Hemophilia B", "label_hira": "けつゆうびょうびー", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200678", "id": "NANDO:2200678", "label_ja": "第Ⅹ因子欠乏症", "label_en": "Factor X deficiency", "label_hira": "だい10いんしけつぼうしょう", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200685", "id": "NANDO:2200685", "label_ja": "先天性高分子キニノゲン欠乏症", "label_en": "High molecular weight kininogen deficiency", "label_hira": "せんてんせいこうぶんしきにのげんけつぼうしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200689", "id": "NANDO:2200689", "label_ja": "先天性プロテインC欠乏症", "label_en": "Protein C deficiency", "label_hira": "せんてんせいぷろていんしーけつぼうしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200737", "id": "NANDO:2200737", "label_ja": "STAT5b欠損症", "label_en": "STAT5b deficiency", "label_hira": "えすてぃーえーてぃー5びーけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200770", "id": "NANDO:2200770", "label_ja": "STAT2欠損症", "label_en": "STAT2 deficiency", "label_hira": "えすてぃーえーてぃー2けっそんしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200785", "id": "NANDO:2200785", "label_ja": "C7 欠損症", "label_en": "C7 deficiency", "label_hira": "しー7けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200788", "id": "NANDO:2200788", "label_ja": "Factor D 欠損症", "label_en": "Factor D deficiency", "label_hira": "ふぁくたーでぃーけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200789", "id": "NANDO:2200789", "label_ja": "Properdin 欠損症", "label_en": "Properdin deficiency", "label_hira": "ぷろぱーじん けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200794", "id": "NANDO:2200794", "label_ja": "Ficolin3 関連免疫不全症", "label_en": "Ficolin 3 Deficiency", "label_hira": "ふぃこりん3かんれんめんえきふぜんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200807", "id": "NANDO:2200807", "label_ja": "好酸球性消化管疾患", "label_en": "Eosinophilic gastrointestinal disorders", "label_hira": "こうさんきゅうせいしょうかかんしっかん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200817", "id": "NANDO:2200817", "label_ja": "滑脳症", "label_en": "Lissencephaly", "label_hira": "かつのうしょう", "notification_number": "84", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200819", "id": "NANDO:2200819", "label_ja": "全前脳胞症", "label_en": "Holoprosencephaly", "label_hira": "ぜんぜんのうほうしょう", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200823", "id": "NANDO:2200823", "label_ja": "巨脳症－毛細血管奇形症候群", "label_en": "Megalencephaly-capillary malformation syndrome", "label_hira": "きょのうしょう－もうさいけっかんきけいしょうこうぐん", "notification_number": "86", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200828", "id": "NANDO:2200828", "label_ja": "ゴーリン症候群", "label_en": "Gorlin syndrome", "label_hira": "ごーりんしょうこうぐん", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200829", "id": "NANDO:2200829", "label_ja": "フォンヒッペル・リンドウ病", "label_en": "von Hippel-Lindau disease", "label_hira": "ふぉんひっぺる・りんどうびょう", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200854", "id": "NANDO:2200854", "label_ja": "先天性無痛無汗症", "label_en": "Congenital insensitivity to pain with anhidrosis", "label_hira": "せんてんせいむつうむかんしょう", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200859", "id": "NANDO:2200859", "label_ja": "顔面肩甲上腕型筋ジストロフィー", "label_en": "Facioscapulohumeral muscular dystrophy", "label_hira": "がんめんけんこうじょうわんがたきんじすとろふぃー", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200860", "id": "NANDO:2200860", "label_ja": "福山型先天性筋ジストロフィー", "label_en": "Fukuyama type congenital muscular dystrophy", "label_hira": "ふくやまがたせんてんせいきんじすとろふぃー", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200876", "id": "NANDO:2200876", "label_ja": "シュワルツ・ヤンペル症候群", "label_en": "Schwartz-Jampel syndrome", "label_hira": "しゅわるつ・やんぺるしょうこうぐん", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200880", "id": "NANDO:2200880", "label_ja": "ウンフェルリヒト・ルントボルク病", "label_en": "Unverricht-Lundborg disease", "label_hira": "うんふぇるりひと・るんとぼるくびょう", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200897", "id": "NANDO:2200897", "label_ja": "SAMHD1欠損症", "label_en": "Aicardi-Goutieres syndrome 5", "label_hira": "えすえーえむえいちでぃー1けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200910", "id": "NANDO:2200910", "label_ja": "エンテロキナーゼ欠損症", "label_en": "Enterokinase deficiency", "label_hira": "えんてろきなーぜけっそんしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200951", "id": "NANDO:2200951", "label_ja": "総排泄腔外反症", "label_en": "Cloacal exstrophy", "label_hira": "そうはいせつくうがいはんしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200987", "id": "NANDO:2200987", "label_ja": "ケラチン症性魚鱗癬", "label_en": "Keratinopathic ichthyosis", "label_hira": "けらちんしょうせいぎょりんせん", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201007", "id": "NANDO:2201007", "label_ja": "中毒性表皮壊死症", "label_en": "Toxic epidermal necrolysis", "label_hira": "ちゅうどくせいひょうひえししょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201022", "id": "NANDO:2201022", "label_ja": "骨硬化性疾患", "label_en": "Osteosclerotic diseases", "label_hira": "こつこうかせいしっかん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201023", "id": "NANDO:2201023", "label_ja": "濃化異骨症", "label_en": "Pycnodysostosis", "label_hira": "のうかいこつしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201036", "id": "NANDO:2201036", "label_ja": "片側性網膜芽細胞腫（右）", "label_en": "Unilateral retinoblastoma (right)", "label_hira": "へんそくせいもうまくがさいぼうしゅ（みぎ）", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201037", "id": "NANDO:2201037", "label_ja": "片側性網膜芽細胞腫（左）", "label_en": "Unilateral retinoblastoma (left)", "label_hira": "へんそくせいもうまくがさいぼうしゅ（ひだり）", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201060", "id": "NANDO:2201060", "label_ja": "若年性特発性関節炎（付着部炎関連関節炎）", "label_en": "Enthesitis-related juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（ふちゃくぶえんかんれんかんせつえん）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201092", "id": "NANDO:2201092", "label_ja": "遅発型オルニチントランスカルバミラーゼ欠損症", "label_en": "Late-onset ornitine transcarbamylase deficiency", "label_hira": "ちはつがたおるにちんとらんすかるばみらーぜけっそんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201110", "id": "NANDO:2201110", "label_ja": "コバラミン代謝異常 cblF", "label_en": "Methylmalonic acidemia and homocystinuria cblF type", "label_hira": "こばらみんたいしゃいじょう しーびーえるえふ", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201115", "id": "NANDO:2201115", "label_ja": "最軽症型プロピオン酸血症", "label_en": "Propionic acidemia, intermittent late onset form", "label_hira": "さいけいしょうがたぷろぴおんさんけっしょう", "notification_number": "106", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201121", "id": "NANDO:2201121", "label_ja": "発症前型複合カルボキシラーゼ欠損症", "label_en": "presymptomatic multiple carboxylase deficiency", "label_hira": "はっしょうまえがたふくごうかるぼきしらーぜけっそんしょう", "notification_number": "105", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201145", "id": "NANDO:2201145", "label_ja": "乳児期発症型中鎖アシルCoA脱水素酵素欠損症", "label_en": "Infant-onset medium-chain acyl-CoA dehydrogenase deficiency", "label_hira": "にゅうじきはっしょうがたちゅうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201150", "id": "NANDO:2201150", "label_ja": "遅発型三頭酵素欠損症", "label_en": "Trifunctional protein deficiency, myopathic type", "label_hira": "ちはつがたさんとうこうそけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201167", "id": "NANDO:2201167", "label_ja": "糖原病IXd型", "label_en": "Glycogen storage disease type IXd", "label_hira": "とうげんびょう9でぃーがた", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201176", "id": "NANDO:2201176", "label_ja": "C型ムコ多糖症III型", "label_en": "Mucopolysaccharidosis type III C", "label_hira": "しーがたむこたとうしょう3がた", "notification_number": "131", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201180", "id": "NANDO:2201180", "label_ja": "軽症型ムコ多糖症VI型", "label_en": "Mucopolysaccharidosis type VI, mild form", "label_hira": "けいしょうがたむこたとうしょう6がた", "notification_number": "133", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201187", "id": "NANDO:2201187", "label_ja": "軽症型フコシドーシス", "label_en": "Fucosidosis, milder form", "label_hira": "けいしょうがたふこしどーしす", "notification_number": "125", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201192", "id": "NANDO:2201192", "label_ja": "シアリドーシスII型", "label_en": "Sialidosis type 2", "label_hira": "しありどーしす2がた", "notification_number": "117", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201194", "id": "NANDO:2201194", "label_ja": "晩期乳児型ガラクトシアリドーシス", "label_en": "Galactosialidosis, late infantile form", "label_hira": "ばんきにゅうじがたがらくとしありどーしす", "notification_number": "113", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201195", "id": "NANDO:2201195", "label_ja": "若年及び成人型ガラクトシアリドーシス", "label_en": "Galactosialidosis, juvenile/adult form", "label_hira": "じゃくねんおよびせいじんがたがらくとしありどーしす", "notification_number": "113", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201204", "id": "NANDO:2201204", "label_ja": "成人型異染性白質ジストロフィー", "label_en": "Metachromatic leukodystrophy, adult form", "label_hira": "せいじんがたいせんせいはくしつじすとろふぃー", "notification_number": "112", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201217", "id": "NANDO:2201217", "label_ja": "後期乳児型クラッベ病", "label_en": "Late-infantile Krabbe disease", "label_hira": "こうきにゅうじがたくらっべびょう", "notification_number": "114", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201220", "id": "NANDO:2201220", "label_ja": "古典型ファーバー病", "label_en": "Type 1 Farber disease", "label_hira": "こてんがたふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201229", "id": "NANDO:2201229", "label_ja": "乳児型ポンペ病", "label_en": "Classic infantile Pompe disease", "label_hira": "にゅうじがたぽんぺびょう", "notification_number": "126", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201231", "id": "NANDO:2201231", "label_ja": "成人型ポンペ病", "label_en": "Adult-onset Pompe disease", "label_hira": "せいじんがたぽんぺびょう", "notification_number": "126", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201243", "id": "NANDO:2201243", "label_ja": "若年型神経セロイドリポフスチン症", "label_en": "Juvenile neuronal ceroid lipofuscinosis", "label_hira": "じゃくねんがたしんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201253", "id": "NANDO:2201253", "label_ja": "副腎白質ジストロフィー（発症前男性等）", "label_en": "Pre-symptomatic male adrenoleukodystrophy", "label_hira": "ふくじんはくしつじすとろふぃー（はっしょうまえだんせいなど）", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201308", "id": "NANDO:2201308", "label_ja": "アペール症候群（冠状縫合）", "label_en": "Apert syndrome (coronal synostosis)", "label_hira": "あぺーるしょうこうぐん（かんじょうほうごう）", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201321", "id": "NANDO:2201321", "label_ja": "二次性進行型多発性硬化症", "label_en": "Secondary progressive multiple sclerosis", "label_hira": "にじせいしんこうがたたはつせいこうかしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201331", "id": "NANDO:2201331", "label_ja": "アントレー・ビクスラー症候群（矢状縫合）", "label_en": "Antley-Bixler syndrome (sagittal synostosis)", "label_hira": "あんとれー・びくすらーしょうこうぐん（しじょうほうごう）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201349", "id": "NANDO:2201349", "label_ja": "脊椎骨端骨幹端異形成症 Strudwick型", "label_en": "Spondyloepimetaphyseal dysplasia, Strudwick type", "label_hira": "せきついこったんこっかんたんいけいせいしょう すとらどうぃっくがた", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201352", "id": "NANDO:2201352", "label_ja": "早発性関節症を伴う軽症脊椎骨端異形成症", "label_en": "Mild spondyloepiphyseal dysplasia with premature-onset arthrosis", "label_hira": "そうはつせいかんせつしょうをともなうけいしょうせきついこったんいけいせいしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201360", "id": "NANDO:2201360", "label_ja": "末節骨短縮型点状軟骨異形成症", "label_en": "Brachytelephalangic chondrodysplasia punctata", "label_hira": "まっせつこつたんしゅくがたてんじょうなんこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201370", "id": "NANDO:2201370", "label_ja": "巨大動静脈奇形（Stage I）", "label_en": "Stage I huge arteriovenous malformation", "label_hira": "きょだいどうじょうみゃくきけい（すてーじ1）", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201377", "id": "NANDO:2201377", "label_ja": "単純型表皮水疱症（その他）", "label_en": "Other epidermolysis bullosa simplex", "label_hira": "たんじゅんがたひょうひすいほうしょう（そのた）", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201380", "id": "NANDO:2201380", "label_ja": "幽門閉鎖合併型表皮水疱症", "label_en": "Junctional epidermolysis bullosa with pyloric atresia", "label_hira": "ゆうもんへいさがっぺいがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201385", "id": "NANDO:2201385", "label_ja": "ギャロウェイ・モワト症候群", "label_en": "Galloway-Mowat syndrome", "label_hira": "ぎゃろうぇい・もわとしょうこうぐん", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201392", "id": "NANDO:2201392", "label_ja": "ホルト・オーラム症候群", "label_en": "Holt-Oram syndrome", "label_hira": "ほると・おーらむしょうこうぐん", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201402", "id": "NANDO:2201402", "label_ja": "徐波睡眠期持続性棘徐波を示すてんかん性脳症", "label_en": "Epileptic encephalopathy with continuous spike-and-wave during sleep", "label_hira": "じょはすいみんきじぞくせいきょくじょはをしめすてんかんせいのうしょう", "notification_number": "71", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201427", "id": "NANDO:2201427", "label_ja": "タナトフォリック骨異形成症1型", "label_en": "Thanatophoric dysplasia type 1", "label_hira": "たなとふぉりっくこついけいせいしょう1がた", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201436", "id": "NANDO:2201436", "label_ja": "進行性家族性肝内胆汁うっ滞症1型", "label_en": "Progressive familial intrahepatic cholestasis type 1", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう1がた", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201448", "id": "NANDO:2201448", "label_ja": "総肺静脈還流異常症I型", "label_en": "Type 1 total anomalous pulmonary venous connection", "label_hira": "そうはいじょうみゃくかんりゅういじょうしょう1がた", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201453", "id": "NANDO:2201453", "label_ja": "Jervell Lange Nielsen症候群", "label_en": "Jervell Lange Nielsen syndrome", "label_hira": "じゃーべるらんげにーるせんしょうこうぐん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201457", "id": "NANDO:2201457", "label_ja": "大腸限局型若年性ポリポーシス", "label_en": "Juvenile polyposis coli", "label_hira": "だいちょうげんきょくがたじゃくねんせいぽりぽーしす", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201465", "id": "NANDO:2201465", "label_ja": "左右結腸型ヒルシュスプルング病", "label_en": "Long-segment Hirschsprung's disease", "label_hira": "さゆうけっちょうがたひるしゅすぷるんぐびょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201471", "id": "NANDO:2201471", "label_ja": "後天性鉄芽球性貧血", "label_en": "Acquired sideroblastic anemia", "label_hira": "こうてんせいてつがきゅうせいひんけつ", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201109", "id": "NANDO:1201109", "label_ja": "極長鎖アシル-CoA 脱水素酵素欠損症", "label_en": "very long-chain acyl-CoA dehydrogenase", "label_hira": "ごくちょうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "344", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201115", "id": "NANDO:1201115", "label_ja": "TM/TAFI 異常症", "label_en": "Disorder of thrombomodulin/thrombin-activatable fibrinolysis inhibitor", "label_hira": "とろんぼもじゅりん/とろんびんかっせいか せんよう そがい いんしいじょうしょう", "notification_number": "347", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201498", "id": "NANDO:2201498", "label_ja": "限局性皮質異形成", "label_en": "Focal cortical dysplasia", "label_hira": "げんきょくせいひしついけいせい", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201500", "id": "NANDO:2201500", "label_ja": "限局性皮質異形成タイプ1b", "label_en": "Focal cortical dysplasia type 1b", "label_hira": "げんきょくせいひしついけいせいたいぷ1びー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201513", "id": "NANDO:2201513", "label_ja": "ナトリウムチャネルミオトニー", "label_en": "Sodium channel myotonia", "label_hira": "なとりうむちゃねるみおとにー", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201530", "id": "NANDO:2201530", "label_ja": "バレー・ジェロルド症候群", "label_en": "Baller-Gerold symdrome", "label_hira": "ばれー・じぇろるどしょうこうぐん", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201137", "id": "NANDO:1201137", "label_ja": "不完全型aベーチェット病", "label_en": "Atypical Behçet’s disease-a", "label_hira": "ふかんぜんがたえーべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201138", "id": "NANDO:1201138", "label_ja": "不完全型bベーチェット病", "label_en": "Atypical Behçet’s disease-b", "label_hira": "ふかんぜんがたびーべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201144", "id": "NANDO:1201144", "label_ja": "DYT25 ジストニア", "label_en": "DYT25 Dystonia", "label_hira": "でぃーわいてぃー25じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201149", "id": "NANDO:1201149", "label_ja": "DYT30 ジストニア", "label_en": "DYT30 Dystonia", "label_hira": "でぃーわいてぃー30じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200011", "id": "NANDO:1200011", "label_ja": "大脳皮質基底核変性症", "label_en": "Corticobasal degeneration", "label_hira": "だいのうひしつきていかくへんせいしょう", "notification_number": "7", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200014", "id": "NANDO:1200014", "label_ja": "有棘赤血球舞踏病", "label_en": "Chorea-acanthocytosis", "label_hira": "ゆうきょくせっけっきゅうぶとうびょう", "notification_number": "9", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200037", "id": "NANDO:1200037", "label_ja": "脊髄小脳変性症", "label_en": "Spinocerebellar degeneration", "label_hira": "せきずいしょうのうへんせいしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200087", "id": "NANDO:1200087", "label_ja": "古典型ファーバー病", "label_en": "Type 1 Farber disease", "label_hira": "こてんがたふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200101", "id": "NANDO:1200101", "label_ja": "サンフィリッポ症候群A型", "label_en": "Sanfilippo disease type A", "label_hira": "さんふぃりっぽしょうこうぐんえーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200104", "id": "NANDO:1200104", "label_ja": "サンフィリッポ症候群D型", "label_en": "Sanfilippo disease type D", "label_hira": "さんふぃりっぽしょうこうぐんでぃーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200111", "id": "NANDO:1200111", "label_ja": "Sly病", "label_en": "Sly syndrome", "label_hira": "すらいびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200114", "id": "NANDO:1200114", "label_ja": "Sly病（軽症型）", "label_en": "Sly syndrome, mild form", "label_hira": "すらいびょう（けいしょうがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200142", "id": "NANDO:1200142", "label_ja": "酸性リパーゼ欠損症", "label_en": "Acid lipase deficiency", "label_hira": "さんせいりぱーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200148", "id": "NANDO:1200148", "label_ja": "中間型遊離シアル酸蓄積症", "label_en": "Intermediate severe Salla disease", "label_hira": "ちゅうかんがたゆうりしあるさんちくせきしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200164", "id": "NANDO:1200164", "label_ja": "非腎型シスチン症", "label_en": "Non-nephropathic cystinosis ", "label_hira": "ひじんがたしすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200167", "id": "NANDO:1200167", "label_ja": "思春期大脳型副腎白質ジストロフィー", "label_en": "Adolescent cerebral adrenoleukodystrophy", "label_hira": "ししゅんきだいのうがたふくじんはくしつじすとろふぃー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200172", "id": "NANDO:1200172", "label_ja": "副腎白質ジストロフィー（女性発症者）", "label_en": "Female adrenoleukodystrophy", "label_hira": "ふくじんはくしつじすとろふぃー（じょせいはっしょうしゃ）", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200193", "id": "NANDO:1200193", "label_ja": "医原性クロイツフェルト・ヤコブ病", "label_en": "Iatrogenic Creutzfeldt-Jakob disease", "label_hira": "いげんせいくろいつふぇると・やこぶびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200196", "id": "NANDO:1200196", "label_ja": "亜急性硬化性全脳炎（典型）", "label_en": "Typical subacute sclerosing panencephalitis", "label_hira": "あきゅうせいこうかせいぜんのうえん（てんけい）", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200206", "id": "NANDO:1200206", "label_ja": "HTLV-1関連脊髄症", "label_en": "HTLV-1-associated myelopathy", "label_hira": "えいちてぃーえるぶい1かんれんせきずいしょう", "notification_number": "26", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200211", "id": "NANDO:1200211", "label_ja": "免疫グロブリン性アミロイドーシス", "label_en": "Amyloid light-chain amyloidosis", "label_hira": "めんえきぐろぶりんせいあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200213", "id": "NANDO:1200213", "label_ja": "遺伝性全身性アミロイドーシス（ATTRv を除く）", "label_en": "Hereditary systemic amyloidosis (excluding ATTRv)", "label_hira": "いでんせいぜんしんせいあみろいどーしす（ATTRvをのぞく）", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200219", "id": "NANDO:1200219", "label_ja": "眼咽頭遠位型ミオパチー", "label_en": "Oculopharyngodistal myopathy", "label_hira": "がんいんとうえんいがたみおぱちー", "notification_number": "30", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200224", "id": "NANDO:1200224", "label_ja": "シュワルツ・ヤンペル症候群", "label_en": "Schwartz-Jampel syndrome", "label_hira": "しゅわるつ・やんぺるしょうこうぐん", "notification_number": "33", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200235", "id": "NANDO:1200235", "label_ja": "単純型表皮水疱症", "label_en": "Epidermolysis bullosa simplex", "label_hira": "たんじゅんがたひょうひすいほうしょう", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200270", "id": "NANDO:1200270", "label_ja": "劇症型原発性抗リン脂質抗体症候群", "label_en": "Catastrophic antiphospholipid syndrome", "label_hira": "げきしょうがたげんぱつせいこうりんししつこうたいしょうこうぐん", "notification_number": "48", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200271", "id": "NANDO:1200271", "label_ja": "抗リン脂質抗体関連疾患", "label_en": "Antiphospholipid antibody-related disease", "label_hira": "こうりんししつこうたいかんれんしっかん", "notification_number": "48", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200285", "id": "NANDO:1200285", "label_ja": "特発性拡張型心筋症", "label_en": "Idiopathic dilated cardiomyopathy", "label_hira": "とくはつせいかくちょうがたしんきんしょう", "notification_number": "57", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200289", "id": "NANDO:1200289", "label_ja": "心室中部閉塞性肥大型心筋症", "label_en": "Mid-ventricular obstructive hypertrophic cardiomyopathy", "label_hira": "しんしつちゅうぶへいそくせいひだいがたしんきんしょう", "notification_number": "58", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200304", "id": "NANDO:1200304", "label_ja": "先天性角化不全症", "label_en": "Dyskeratosis congenita", "label_hira": "せんてんせいかくかふぜんしょう", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100009", "id": "NANDO:1100009", "label_ja": "内分泌系疾患", "label_en": "Endocrine disease", "label_hira": "ないぶんぴつけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100011", "id": "NANDO:1100011", "label_ja": "視覚系疾患", "label_en": "Eye and visual system disease", "label_hira": "しかくけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100015", "id": "NANDO:1100015", "label_ja": "耳鼻科系疾患", "label_en": "Otorhinolaryngological disease", "label_hira": "じびかけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200319", "id": "NANDO:1200319", "label_ja": "後天性二次性血栓性血小板減少性紫斑病", "label_en": "Secondary thrombotic thrombocytopenic purpura", "label_hira": "こうてんせいにじせいけっせんせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "64", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200325", "id": "NANDO:1200325", "label_ja": "プリンヌクレオシドホスホリラーゼ欠損症", "label_en": "Purine nucleoside phosphorylase deficiency", "label_hira": "ぷりんぬくれおしどほすほりらーぜけっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200355", "id": "NANDO:1200355", "label_ja": "白血球接着不全症", "label_en": "Leukocyte adhesion deficiency", "label_hira": "はっけっきゅうせっちゃくふぜんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200358", "id": "NANDO:1200358", "label_ja": "ミエロペルオキシダーゼ欠損症", "label_en": "Myeloperoxidase deficiency", "label_hira": "みえろぺるおきしだーぜけっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200369", "id": "NANDO:1200369", "label_ja": "常染色体劣性多発性嚢胞腎", "label_en": "Autosomal recessive polycystic kidney disease", "label_hira": "じょうせんしょくたいれっせいたはつせいのうほうじん", "notification_number": "67", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200371", "id": "NANDO:1200371", "label_ja": "後縦靱帯骨化症", "label_en": "Ossification of posterior longitudinal ligament", "label_hira": "こうじゅうじんたいこっかしょう", "notification_number": "69", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200376", "id": "NANDO:1200376", "label_ja": "抗利尿ホルモン不適切分泌症候群", "label_en": "Syndrome of inappropriate secretion of antidiuretic hormone", "label_hira": "こうりにょうほるもんふてきせつぶんぴつしょうこうぐん", "notification_number": "72", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200385", "id": "NANDO:1200385", "label_ja": "下垂体ゴナドトロピン産生腫瘍", "label_en": "Growth hormone secreting pituitary adenoma", "label_hira": "かすいたいごなどとろぴんさんせいしゅよう", "notification_number": "76", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200391", "id": "NANDO:1200391", "label_ja": "GH 分泌不全性低身長症（小児）", "label_en": "Growth hormone secretion deficiency of dwarfism", 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"TNF受容体関連周期性症候群", "label_en": "TNF receptor-associated periodic fever syndrome", "label_hira": "てぃーえぬえふじゅようたいかんれんしゅうきせいしょうこうぐん", "notification_number": "108", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200489", "id": "NANDO:1200489", "label_ja": "ベッカー型筋ジストロフィー", "label_en": "Becker muscular dystrophy", "label_hira": "べっかーがたきんじすとろふぃー", "notification_number": "113", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200526", "id": "NANDO:1200526", "label_ja": "小脳失調症深部反射消失凹足視神経萎縮感覚神経障害性聴覚障害", "label_en": "Cerebellar ataxia, areflexia, pes cavus, optic atropy, and sensorineural hearing loss", "label_hira": "しょうのうしっちょうしょうしんぶはんしゃしょうしつおうそくししんけいいしゅくかんかくしんけいしょうがいせいちょうかくしょうがい", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200556", "id": "NANDO:1200556", "label_ja": "延髄・脊髄優位型アレキサンダー病", "label_en": "Alexander disease type II", "label_hira": "えんずい・せきずいゆういがたあれきさんだーびょう", "notification_number": "131", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200557", "id": "NANDO:1200557", "label_ja": "中間型アレキサンダー病", "label_en": "Alexander disease type III", "label_hira": "ちゅうかんがたあれきさんだーびょう", "notification_number": "131", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200566", "id": "NANDO:1200566", "label_ja": "限局性皮質異形成タイプ1b", "label_en": "Focal cortical dysplasia type 1b", "label_hira": "げんきょくせいひしついけいせいたいぷ1びー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200600", "id": "NANDO:1200600", "label_ja": "難治頻回部分発作重積型急性脳炎", "label_en": "Acute encephalitis with refractory, repetitive partial seizures", "label_hira": "なんちひんかいぶぶんほっさじゅうせきがたきゅうせいのうえん", "notification_number": "153", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200610", "id": "NANDO:1200610", "label_ja": "ケラチン症性魚鱗癬", "label_en": "Keratinopathic ichthyosis", "label_hira": "けらちんしょうせいぎょりんせん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200611", "id": "NANDO:1200611", "label_ja": "常染色体優性表皮融解性魚鱗癬", "label_en": "Autosomal dominant epidermolytic ichthyosis", "label_hira": "じょうせんしょくたいゆうせいひょうひゆうかいせいぎょりんせん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200615", "id": "NANDO:1200615", "label_ja": "道化師様魚鱗癬以外の常染色体劣性遺伝性魚鱗癬", "label_en": "Autosomal recessive congenital ichthyosis excluding harlequin ichthyosis", "label_hira": "どうけしようぎょりんせんいがいのじょうせんしょくたいれっせいいでんせいぎょりんせん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200618", "id": "NANDO:1200618", "label_ja": "魚鱗癬症候群", "label_en": "Ichthyosis syndrome", "label_hira": "ぎょりんせんしょうこうぐん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200630", "id": "NANDO:1200630", "label_ja": "Conradi-Hünermann-Happle 症候群", "label_en": "Conradi Hünermann Happle syndrome", "label_hira": "こんらーでぃひゅーねるまんはっぷる症候群", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200635", "id": "NANDO:1200635", "label_ja": "後天性表皮水疱症", "label_en": "Epidermolysis bullosa acquisita", "label_hira": "こうてんせいひょうひすいほうしょう", "notification_number": "162", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200641", "id": "NANDO:1200641", "label_ja": "非症候型眼皮膚白皮症", "label_en": "Non-syndromic oculocutaneous albinism", "label_hira": "ひしょうこうがたがんひふはくひしょう", "notification_number": "164", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200645", "id": "NANDO:1200645", "label_ja": "エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos Syndrome", "label_hira": "えーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200409", "id": "NANDO:1200409", "label_ja": "obsolete MRAP異常症", "label_en": "obsolete MRAP deficiency", "label_hira": "えむあーるえーぴーいじょうしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200668", "id": "NANDO:1200668", "label_ja": "ファイファー症候群", "label_en": "Pfeiffer syndrome", "label_hira": "ふぁいふぁーしょうこうぐん", "notification_number": "183", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200748", "id": "NANDO:1200748", "label_ja": "特発性肺胞蛋白症", "label_en": "Idiopathic pulmonary alveolar proteinosis", "label_hira": "とくはつせいはいほうたんぱくしょう", "notification_number": "229", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200760", "id": "NANDO:1200760", "label_ja": "ツェルベーガー症候群", "label_en": "Zellweger syndrome", "label_hira": "つぇるべーがーしょうこうぐん", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200774", "id": "NANDO:1200774", "label_ja": "アカタラセミア", "label_en": "Acatalasemia", "label_hira": "あかたらせみあ", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200802", "id": "NANDO:1200802", "label_ja": "尿素サイクル異常症", "label_en": "Urea cycle disorder", "label_hira": "にょうそさいくるいじょうしょう", "notification_number": "251", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200816", "id": "NANDO:1200816", "label_ja": "晩発性皮膚ポルフィリン症", "label_en": "Porphyria cutanea tarda", "label_hira": "ばんはつせいひふぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200817", "id": "NANDO:1200817", "label_ja": "先天性骨髄性ポルフィリン症", "label_en": "Congenital erythropoietic porphyria", "label_hira": "せんてんせいこつずいせいぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200827", "id": "NANDO:1200827", "label_ja": "筋型糖原病IV型", "label_en": "Glycogen storage diseases type IV", "label_hira": "きんがたとうげんびょう4がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200835", "id": "NANDO:1200835", "label_ja": "筋型糖原病XIII型", "label_en": "Glycogen storage diseases type XIII", "label_hira": "きんがたとうげんびょう13がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200861", "id": "NANDO:1200861", "label_ja": "家族性部分性脂肪萎縮症", "label_en": "Familial partial lipodystrophy", "label_hira": "かぞくせいぶぶんせいしぼういしゅくしょう", "notification_number": "265", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200866", "id": "NANDO:1200866", "label_ja": "高IgD症候群", "label_en": "Hyper IgD syndrome", "label_hira": "こうあいじーでぃーしょうこうぐん", "notification_number": "267", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200869", "id": "NANDO:1200869", "label_ja": "慢性再発性多発性骨髄炎", "label_en": "Chronic recurrent multifocal osteomyelitis", "label_hira": "まんせいさいはつせいたはつせいこつずいえん", "notification_number": "270", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200873", "id": "NANDO:1200873", "label_ja": "骨形成不全症", "label_en": "Osteogenesis imperfecta", "label_hira": "こつけいせいふぜんしょう", "notification_number": "274", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200876", "id": "NANDO:1200876", "label_ja": "タナトフォリック骨異形成症2型", "label_en": "Thanatophoric dysplasia type 2", "label_hira": "たなとふぉりっくこついけいせいしょう2がた", "notification_number": "275", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200891", "id": "NANDO:1200891", "label_ja": "ファンコニ貧血", "label_en": "Fanconi anemia", "label_hira": "ふぁんこにひんけつ", "notification_number": "285", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200917", "id": "NANDO:1200917", "label_ja": "III型胆道閉鎖症", "label_en": "Type III biliary atresia", "label_hira": "3がたたんどうへいさしょう", "notification_number": "296", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200926", "id": "NANDO:1200926", "label_ja": "びまん型自己免疫性膵炎", "label_en": "Diffuse-type autoimmune pancreatitis", "label_hira": "びまんがたじこめんえきせいすいえん", "notification_number": "300", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200928", "id": "NANDO:1200928", "label_ja": "IgG4関連硬化性胆管炎", "label_en": "IgG4-related sclerosing cholangitis", "label_hira": "あいじーじー4かんれんこうかせいたんかんえん", "notification_number": "300", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200931", "id": "NANDO:1200931", "label_ja": "黄斑ジストロフィー", "label_en": "Macular dystrophy", "label_hira": "おうはんじすとろふぃー", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200940", "id": "NANDO:1200940", "label_ja": "レーベル遺伝性視神経症", "label_en": "Leber hereditary optic neuropathy", "label_hira": "れーべるいでんせいししんけいしょう", "notification_number": "302", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200955", "id": "NANDO:1200955", "label_ja": "ラフォラ病", "label_en": "Lafora disease", "label_hira": "らふぉらびょう", "notification_number": "309", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200968", "id": "NANDO:1200968", "label_ja": "LMX1B関連腎症", "label_en": "LMX1B-associated nephropathy", "label_hira": "えるえむえっくす1びーかんれんじんしょう", "notification_number": "315", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200728", "id": "NANDO:1200728", "label_ja": "obsolete 中等度メサンギウム細胞増殖性糸球体腎炎", "label_en": "obsolete Moderate mesangial proliferative glomerulonephritis", "label_hira": "ちゅうとうどめさんぎうむさいぼうぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200839", "id": "NANDO:1200839", "label_ja": "obsolete 肝型糖原病Ⅰ-Ⅲ-Ⅵ-Ⅸ型", "label_en": "obsolete Hepatic glycogen storage disease type I-III-VI-IX", "label_hira": "obsolete かんがたとうげんびょう1-3-6-9がた", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200973", "id": "NANDO:1200973", "label_ja": "カルニチントランスポーター欠損症", "label_en": "Systemic primary carnitine deficiency", "label_hira": "かるにちんとらんすぽーたーけっそんしょう", "notification_number": "316", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200988", "id": "NANDO:1200988", "label_ja": "芳香族L－アミノ酸脱炭酸酵素欠損症", "label_en": "Aromatic L-amino acid decarboxylase deficiency", "label_hira": "ほうこうぞくえるあみのさんだつたんさんこうそけっそんしょう", "notification_number": "323", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201026", "id": "NANDO:1201026", "label_ja": "慢性進行性慢性炎症性脱髄性多発神経炎", "label_en": "Chronic progressive chronic inflammatory demyelinating polyneuropathy", "label_hira": "まんせいしんこうせいまんせいえんしょうせいだつずいせいたはつしんけいえん", "notification_number": "14", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201034", "id": "NANDO:1201034", "label_ja": "グアニジノ酢酸メチル基転位酵素欠損症", "label_en": "Guanidinoacetate methyltransferase deficiency", "label_hira": "ぐあにじのさくさんめちるきてんいこうそけっそんしょう", "notification_number": "334", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201060", "id": "NANDO:1201060", "label_ja": "家族性アミロイドニューロパチーI型", "label_en": "Familial amyloid polyneuropathy type 1", "label_hira": "かぞくせいあみろいどにゅーろぱちー1がた", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201064", "id": "NANDO:1201064", "label_ja": "カーンズ・セイヤー症候群", "label_en": "Kearns-Sayre syndrome", "label_hira": "かーんず・せいやーしょうこうぐん", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201070", "id": "NANDO:1201070", "label_ja": "皮質下帯状異所性灰白質", "label_en": "Subcortical band heterotopia", "label_hira": "ひしつかたいじょういしょせいはいはくしつ", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201071", "id": "NANDO:1201071", "label_ja": "多小脳回", "label_en": "Polymicrogyria", "label_hira": "たしょうのうかい", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201078", "id": "NANDO:1201078", "label_ja": "偽性副甲状腺機能低下症II型", "label_en": "Pseudohypoparathyroidism type 2", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう2がた", "notification_number": "236", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201086", "id": "NANDO:1201086", "label_ja": "心臓弁型エーラス・ダンロス症候群", "label_en": "Cardiac-valvular Ehlers-Danlos syndrome", "label_hira": "しんぞうべんがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201106", "id": "NANDO:1201106", "label_ja": "家族性中枢性尿崩症", "label_en": "Familial central diabetes insipidus", "label_hira": "かぞくせいちゅうすうせいにょうほうしょう", "notification_number": "72", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100014", "id": "NANDO:2100014", "label_ja": "家族性若年性高尿酸血症性腎症", "label_en": "Familial juvenile hyperuricemic nephropathy", "label_hira": "かぞくせいじゃくねんせいこうにょうさんけっしょうせいじんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100022", "id": "NANDO:2100022", "label_ja": "腎尿管結石", "label_en": "Nephro- and urolithiasis", "label_hira": "じんにょうかんけっせき", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100023", "id": "NANDO:2100023", "label_ja": "慢性腎不全", "label_en": "Chronic renal failure", "label_hira": "まんせいじんふぜん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100034", "id": "NANDO:2100034", "label_ja": "線毛機能不全症候群", "label_en": "Primary ciliary dyskinesia", "label_hira": "せんもうきのうふぜんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100066", "id": "NANDO:2100066", "label_ja": "乳児特発性僧帽弁腱索断裂", "label_en": "Idiopathic rupture of chordae tendineae of the mitral valve in infants", "label_hira": "にゅうじとくはつせいそうぼうべんけんさくだんれつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100072", "id": "NANDO:2100072", "label_ja": "単心室症", "label_en": "Single ventricle", "label_hira": "たんしんしつしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100085", "id": "NANDO:2100085", "label_ja": "心房中隔欠損症", "label_en": "Atrial septal defect", "label_hira": "しんぼうちゅうかくけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100098", "id": "NANDO:2100098", "label_ja": "大動脈狭窄症", "label_en": "Aortic stenosis", "label_hira": "だいどうみゃくきょうさくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100106", "id": "NANDO:2100106", "label_ja": "僧帽弁弁上輪", "label_en": "Supramitral ring", "label_hira": "そうぼうべんべんじょうりん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100122", "id": "NANDO:2100122", "label_ja": "腺腫様甲状腺腫", "label_en": "Adenomatous goiter", "label_hira": "せんしゅようこうじょうせんしゅ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100160", "id": "NANDO:2100160", "label_ja": "アミノ酸代謝異常症", "label_en": "Disorder of amino acid metabolism", "label_hira": "あみのさんたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100181", "id": "NANDO:2100181", "label_ja": "自己免疫性溶血性貧血", "label_en": "Autoimmune hemolytic anemia", "label_hira": "じこめんえきせいようけつせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200024", "id": "NANDO:2200024", "label_ja": "ホジキンリンパ腫", "label_en": "Hodgkin lymphoma", "label_hira": "ほじきんりんぱしゅ", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200067", "id": "NANDO:2200067", "label_ja": "胎児性癌", "label_en": "Embryonal carcinoma", "label_hira": "たいじせいがん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200145", "id": "NANDO:2200145", "label_ja": "ギッテルマン症候群", "label_en": "Gitelman syndrome", "label_hira": "ぎってるまんしょうこうぐん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200160", "id": "NANDO:2200160", "label_ja": "38から44までに掲げるもののほか、腎奇形", "label_en": "Other renal malformations", "label_hira": "38から44までにかかげるもののほか、じんきけい", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200165", "id": "NANDO:2200165", "label_ja": "腰部変位腎", "label_en": "Lumber ectopic kidney", "label_hira": "ようぶへんいじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200174", "id": "NANDO:2200174", "label_ja": "後天性嚢胞性腎疾患", "label_en": "Acquired cystic disease of the kidney", "label_hira": "こうてんせいのうほうせいじんしっかん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200185", "id": "NANDO:2200185", "label_ja": "Prune belly症候群", "label_en": "Prune belly syndrome", "label_hira": "ぷるーんべりーしょうこうぐん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200186", "id": "NANDO:2200186", "label_ja": "萎縮腎", "label_en": "Atrophic kidney", "label_hira": "いしゅくじん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200194", "id": "NANDO:2200194", "label_ja": "気管狭窄", "label_en": "Tracheal stenosis", "label_hira": "きかんきょうさく", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200210", "id": "NANDO:2200210", "label_ja": "先天性横隔膜ヘルニア", "label_en": "Congenital diaphragmatic hernia", "label_hira": "せんてんせいおうかくまくへるにあ", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200215", "id": "NANDO:2200215", "label_ja": "脚ブロック", "label_en": "Bundle branch block", "label_hira": "きゃくぶろっく", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200217", "id": "NANDO:2200217", "label_ja": "上室頻拍", "label_en": "Supraventricular tachycardia due to WPW syndrome", "label_hira": "じょうしつひんぱく（だぶるぴーだぶるしょうこうぐんによるものにかぎる。）", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100202", "id": "NANDO:2100202", "label_ja": "免疫疾患", "label_en": "Immune system disease", "label_hira": "めんえきしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100212", "id": "NANDO:2100212", "label_ja": "後天性免疫不全症", "label_en": "Acquired immune deficiency syndrome", "label_hira": "こうてんせいめんえきふぜんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100220", "id": "NANDO:2100220", "label_ja": "神経皮膚症候群", "label_en": "Neurocutaneous syndrome", "label_hira": "しんけいひふしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100245", "id": "NANDO:2100245", "label_ja": "亜急性硬化性全脳炎", "label_en": "Subacute sclerosing panencephalitis", "label_hira": "あきゅうせいこうかせいぜんのうえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100258", "id": "NANDO:2100258", "label_ja": "周期性嘔吐症候群", "label_en": "Cyclic vomiting syndrome", "label_hira": "しゅうきせいおうとしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100278", "id": "NANDO:2100278", "label_ja": "obsolete 総排泄腔外反症", "label_en": "obsolete Cloacal extrophy", "label_hira": "そうはいせつくうがいはんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100290", "id": "NANDO:2100290", "label_ja": "スティーヴンス・ジョンソン症候群", "label_en": "Stevens-Johnson syndrome", "label_hira": "すてぃーぶんす・じょんそんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100291", "id": "NANDO:2100291", "label_ja": "骨系統疾患", "label_en": "Bone disease", "label_hira": "こつけいとうしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100298", "id": "NANDO:2100298", "label_ja": "常染色体優性尿細管間質性腎疾患", "label_en": "Autosomal dominant tubulointerstitial kidney disease", "label_hira": "じょうせんしょくたいゆうせいにょうさいかんかんしつせいじんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200237", "id": "NANDO:2200237", "label_ja": "慢性心筋炎", "label_en": "Chronic myocarditis", "label_hira": "まんせいしんきんえん", "notification_number": "93", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200239", "id": "NANDO:2200239", "label_ja": "収縮性心膜炎", "label_en": "Constrictive pericarditis", "label_hira": "しゅうしゅくせいしんまくえん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100308", "id": "NANDO:2100308", "label_ja": "先天性食道閉鎖症", "label_en": "Congenital esophageal atresia", "label_hira": "せんてんせいしょくどうへいさしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201122", "id": "NANDO:1201122", "label_ja": "AH アミロイド－シス ", "label_en": "AH amyloidosis", "label_hira": "えーえいちあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201124", "id": "NANDO:1201124", "label_ja": "遺伝性アポリポ蛋白 A-I アミロイドーシス", "label_en": "Hereditary apolipoprotein A-I amyloidosis", "label_hira": "いでんせいあぽりぽたんぱくえー1あみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201127", "id": "NANDO:1201127", "label_ja": "遺伝性リゾチームアミロイドーシス", "label_en": "Hereditary lysozyme amyloidosis", "label_hira": "いでんせいりぞちーむあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201134", "id": "NANDO:1201134", "label_ja": "完全型ベーチェット病", "label_en": "Complete Behçet’s disease", "label_hira": "かんぜんがたべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201143", "id": "NANDO:1201143", "label_ja": "DYT24 ジストニア", "label_en": "DYT24 Dystonia", "label_hira": "でぃーわいてぃー24じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201148", "id": "NANDO:1201148", "label_ja": "DYT29 ジストニア", "label_en": "DYT29 Dystonia", "label_hira": "でぃーわいてぃー29じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201152", "id": "NANDO:1201152", "label_ja": "無セルロプラスミン血症", "label_en": "aceruloplasminemia", "label_hira": "むせるろぷらすみんけっしょう", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200007", "id": "NANDO:2200007", "label_ja": "急性前骨髄球性白血病", "label_en": "Acute promyelocytic leukemia", "label_hira": "きゅうせいぜんこつずいきゅうせいはっけつびょう", "notification_number": "74", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200012", "id": "NANDO:2200012", "label_ja": "NK細胞白血病", "label_en": "NK cell leukemia", "label_hira": "えぬけーさいぼうはっけつびょう", "notification_number": "82", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200018", "id": "NANDO:2200018", "label_ja": "混合型急性白血病", "label_en": "Mixed phenotype acute leukemia", "label_hira": "こんごうがたきゅうせいはっけつびょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200026", "id": "NANDO:2200026", "label_ja": "小児濾胞性リンパ腫", "label_en": "Pediatric follicular lymphoma", "label_hira": "しょうにろほうせいりんぱしゅ", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200034", "id": "NANDO:2200034", "label_ja": "濾胞樹状細胞肉腫", "label_en": "Follicular dendritic cell sarcoma", "label_hira": "ろほうじゅじょうさいぼうにくしゅ", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200040", "id": "NANDO:2200040", "label_ja": "神経芽腫", "label_en": "Neuroblastoma", "label_hira": "しんけいがしゅ", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200048", "id": "NANDO:2200048", "label_ja": "骨肉腫", "label_en": "Osteosarcoma", "label_hira": "こつにくしゅ", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200051", "id": "NANDO:2200051", "label_ja": "軟骨芽細胞腫", "label_en": "Chondroblastoma", "label_hira": "なんこつがさいぼうしゅ", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200056", "id": "NANDO:2200056", "label_ja": "横紋筋肉腫", "label_en": "Rhabdomyosarcoma", "label_hira": "おうもんきんにくしゅ", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200062", "id": "NANDO:2200062", "label_ja": "明細胞肉腫", "label_en": "Clear cell sarcoma", "label_hira": "めいさいぼうにくしゅ", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200068", "id": "NANDO:2200068", "label_ja": "多胎芽腫", "label_en": "Polyembryoma", "label_hira": "たたいがしゅ", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200071", "id": "NANDO:2200071", "label_ja": "混合性胚細胞腫瘍", "label_en": "Mixed germ cell tumour", "label_hira": "こんごうせいはいさいぼうしゅよう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200081", "id": "NANDO:2200081", "label_ja": "気管支腫瘍", "label_en": "Bronchial tumour", "label_hira": "きかんししゅよう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200139", "id": "NANDO:2200139", "label_ja": "家族性若年性高尿酸血症性腎症", "label_en": "Familial juvenile hyperuricemic nephropathy", "label_hira": "かぞくせいじゃくねんせいこうにょうさんけっしょうせいじんしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200143", "id": "NANDO:2200143", "label_ja": "腎動静脈瘻", "label_en": "Renal arteriovenous fistula", "label_hira": "じんどうじょうみゃくろう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200158", "id": "NANDO:2200158", "label_ja": "多嚢胞性異形成腎", "label_en": "Multicystic dysplastic kidney", "label_hira": "たのうほうせいいけいせいじん", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200202", "id": "NANDO:2200202", "label_ja": "肺胞微石症", "label_en": "Pulmonary alveolar microlithiasis", "label_hira": "はいほうびせきしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100201", "id": "NANDO:2100201", "label_ja": "再生不良性貧血", "label_en": "Aplastic anemia", "label_hira": "さいせいふりょうせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100211", "id": "NANDO:2100211", "label_ja": "慢性活動性EBウイルス感染症", "label_en": "Chronic active EB virus infection", "label_hira": "まんせいかつどうせいいーびーういるすかんせんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100215", "id": "NANDO:2100215", "label_ja": "脊髄髄膜瘤", "label_en": "Myelomeningocele", "label_hira": "せきずいずいまくりゅう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100218", "id": "NANDO:2100218", "label_ja": "ジュベール症候群関連疾患", "label_en": "Joubert syndrome related disorders", "label_hira": "じゅべーるしょうこうぐんかんれんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100243", "id": "NANDO:2100243", "label_ja": "先天性感染症", "label_en": "congenital infections", "label_hira": "せんてんせいかんせんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100282", "id": "NANDO:2100282", "label_ja": "眼皮膚白皮症（先天性白皮症）", "label_en": "Oculocutaneous albinism (Congenital albinism)", "label_hira": "がんひふはくひしょう（せんてんせいはくひしょう）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100284", "id": "NANDO:2100284", "label_ja": "表皮水疱症", "label_en": "Epidermolysis bullosa", "label_hira": "ひょうひすいほうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100286", "id": "NANDO:2100286", "label_ja": "色素性乾皮症", "label_en": "Xeroderma pigmentosum", "label_hira": "しきそせいかんぴしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100299", "id": "NANDO:2100299", "label_ja": "ホルト・オーラム症候群", "label_en": "Holt-Oram syndrome", "label_hira": "ほると・おーらむしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200245", "id": "NANDO:2200245", "label_ja": "川崎病性冠動脈瘤", "label_en": "Coronary aneurysms complicated with Kawasaki disease", "label_hira": "かわさきびょうせいかんどうみゃくりゅう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200282", "id": "NANDO:2200282", "label_ja": "一側肺動脈欠損", "label_en": "Unilateral absence of a pulmonary artery", "label_hira": "いっそくはいどうみゃくけっそん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200312", "id": "NANDO:2200312", "label_ja": "先天性下垂体機能低下症", "label_en": "Congenital hypopituitarism", "label_hira": "せんてんせいかすいたいきのうていかしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200315", "id": "NANDO:2200315", "label_ja": "先端巨大症", "label_en": "Acromegaly", "label_hira": "せんたんきょだいしょう", "notification_number": "55", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200320", "id": "NANDO:2200320", "label_ja": "インスリン様成長因子1不応症", "label_en": "IGF1 insensitivity", "label_hira": "いんすりんようせいちょういんし1ふおうしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200333", "id": "NANDO:2200333", "label_ja": "先天性甲状腺機能低下症", "label_en": "Congenital hypothyroidism", "label_hira": "せんてんせいこうじょうせんきのうていかしょう", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200355", "id": "NANDO:2200355", "label_ja": "副腎皮質刺激ホルモン単独欠損症", "label_en": "Isolated ACTH deficiency", "label_hira": "ふくじんひしつしげきほるもんたんどくけっそんしょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200366", "id": "NANDO:2200366", "label_ja": "46及び47に掲げるもののほか、低アルドステロン症", "label_en": "other hypoaldosteronism", "label_hira": "46および47にかかげるもののほか、ていあるどすてろんしょう", "notification_number": "70", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200370", "id": "NANDO:2200370", "label_ja": "リポイド副腎過形成症", "label_en": "Congenital lipoid adrenal hyperplasia", "label_hira": "りぽいどふくじんかけいせいしょう", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200379", "id": "NANDO:2200379", "label_ja": "エストロゲン過剰症", "label_en": "Hyperestrogenism", "label_hira": "えすとろげんかじょうしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200381", "id": "NANDO:2200381", "label_ja": "カルマン症候群", "label_en": "Kallmann syndrome", "label_hira": "かるまんしょうこうぐん", "notification_number": "71", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200386", "id": "NANDO:2200386", "label_ja": "Klinefelter症候群", "label_en": "Klinefelter syndrome", "label_hira": "クラインフェルターしょうこうぐん", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200404", "id": "NANDO:2200404", "label_ja": "脂肪萎縮症", "label_en": "Lipodystrophy", "label_hira": "しぼういしゅくしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200412", "id": "NANDO:2200412", "label_ja": "マッキューン・オルブライト症候群", "label_en": "McCune-Albright syndrome", "label_hira": "まっきゅーん・おるぶらいとしょうこうぐん", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200420", "id": "NANDO:2200420", "label_ja": "シェーグレン症候群", "label_en": "Sjogren's syndrome", "label_hira": "しぇーぐれんしょうこうぐん", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200430", "id": "NANDO:2200430", "label_ja": "混合性結合組織病", "label_en": "Mixed connective tissue disease", "label_hira": "こんごうせいけつごうそしきびょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200431", "id": "NANDO:2200431", "label_ja": "家族性地中海熱", "label_en": "Familial Mediterranean fever", "label_hira": "かぞくせいちちゅうかいねつ", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200451", "id": "NANDO:2200451", "label_ja": "PLCG2異常症", "label_en": "PLCg2 deficiency", "label_hira": "ぴーえるしーじー2いじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200467", "id": "NANDO:2200467", "label_ja": "フェニルケトン尿症", "label_en": "Phenylketonuria", "label_hira": "ふぇにるけとんにょうしょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200471", "id": "NANDO:2200471", "label_ja": "高プロリン血症", "label_en": "Hyperprolinemia", "label_hira": "こうぷろりんけっしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200499", "id": "NANDO:2200499", "label_ja": "スクシニル-CoA：3-ケト酸CoAトランスフェラーゼ欠損症", "label_en": "Succinyl-CoA:3-ketoacid CoA transferase deficiency", "label_hira": "すくしにるこえー：3けとさんこえーとらんすふぇらーぜけっそんしょう", "notification_number": "100", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200502", "id": "NANDO:2200502", "label_ja": "グルタル酸血症2型", "label_en": "Glutaric acidemia type 2", "label_hira": "ぐるたるさんけつしょう2がた", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200507", "id": "NANDO:2200507", "label_ja": "23から38までに掲げるもののほか、有機酸代謝異常症", "label_en": "Other disorders of organic acid metabolism", "label_hira": "23から38までにかかげるもののほか、ゆうきさんたいしゃいじょうしょう", "notification_number": "110", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200513", "id": "NANDO:2200513", "label_ja": "中鎖アシルCoA脱水素酵素欠損症", "label_en": "Medium-chain acyl-CoA dehydrogenase deficiency", "label_hira": "ちゅうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200520", "id": "NANDO:2200520", "label_ja": "フマラーゼ欠損症", "label_en": "Fumarase deficiency", "label_hira": "ふまらーぜけっそんしょう", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200522", "id": "NANDO:2200522", "label_ja": "ミトコンドリア呼吸鎖複合体欠損症", "label_en": "Mitochondrial respiratory chain disorders", "label_hira": "みとこんどりあこきゅうさふくごうたいけっそんしょう", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200530", "id": "NANDO:2200530", "label_ja": "50から57までに掲げるもののほか、ミトコンドリア病", "label_en": "Other mitochondrial diseases", "label_hira": "50から57までにかかげるもののほか、みとこんどりあびょう", "notification_number": "93", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200540", "id": "NANDO:2200540", "label_ja": "糖原病IV型", "label_en": "Glycogen storage disease type IV", "label_hira": "とうげんびょう4がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200572", "id": "NANDO:2200572", "label_ja": "遊離シアル酸蓄積症", "label_en": "Free Sialic Acid Storage Disease", "label_hira": "ゆうりしあるさんちくせきしょう", "notification_number": "137", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200576", "id": "NANDO:2200576", "label_ja": "副腎白質ジストロフィー", "label_en": "Adrenoleukodystrophy", "label_hira": "ふくじんはくしつじすとろふぃー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200577", "id": "NANDO:2200577", "label_ja": "レフサム病", "label_en": "Refsum disease", "label_hira": "れふさむびょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200580", "id": "NANDO:2200580", "label_ja": "メンケス病", "label_en": "Menkes disease", "label_hira": "めんけすびょう", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200581", "id": "NANDO:2200581", "label_ja": "オクシピタル・ホーン症候群", "label_en": "Occipital horn syndrome", "label_hira": "おくしぴたる・ほーんしょうこうぐん", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200595", "id": "NANDO:2200595", "label_ja": "チロシン水酸化酵素欠損症", "label_en": "Tyrosine hydroxylase deficiency", "label_hira": "ちろしんすいさんかこうそけっそんしょう", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200623", "id": "NANDO:2200623", "label_ja": "口唇赤血球症", "label_en": "Hereditary stomatocytosis", "label_hira": "こうしんせっけっきゅうしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200631", "id": "NANDO:2200631", "label_ja": "遺伝性熱変形赤血球症", "label_en": "Hereditary pyropoikilocytosis", "label_hira": "いでんせいねつへんけいせっけっきゅうしょう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200646", "id": "NANDO:2200646", "label_ja": "23に掲げるもののほか、血小板減少性紫斑病", "label_en": "Other thrombocytopenic purpura", "label_hira": "23にかかげるもののほか、けっしょうばんげんしょうせいしはんびょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200666", "id": "NANDO:2200666", "label_ja": "Paris-Trousseau/Jacobsen症候群", "label_en": "Paris-trousseau/Jacobsen syndrome", "label_hira": "ぱりとるそー/やこぶせんしょうこうぐん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200721", "id": "NANDO:2200721", "label_ja": "特異抗体産生不全症", "label_en": "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells", "label_hira": "とくいこうたいさんせいふぜんしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200722", "id": "NANDO:2200722", "label_ja": "乳児一過性低ガンマグロブリン血症", "label_en": "Transient hypogammaglobulinemia of infancy with normal numbers of B cells", "label_hira": "にゅうじいっかせいていがんまぐろぶりんけっしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200733", "id": "NANDO:2200733", "label_ja": "Hermansky-Pudlak症候群2型", "label_en": "Hermansky-Pudlak syndrome type 2", "label_hira": "へるまんすきーぱどらっくしょうこうぐん2がた", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200748", "id": "NANDO:2200748", "label_ja": "自己免疫性好中球減少症", "label_en": "Autoimmune neutropenia", "label_hira": "じこめんえきせいこうちゅうきゅうげんしょうしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200766", "id": "NANDO:2200766", "label_ja": "HOIL1欠損症", "label_en": "HOIL-1 deficiency", "label_hira": "えいちおーあいえる1けっそんしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200767", "id": "NANDO:2200767", "label_ja": "WHIM症候群", "label_en": "WHIM syndrome", "label_hira": "だぶるえいちあいえむしょうこうぐん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200792", "id": "NANDO:2200792", "label_ja": "3MC 症候群", "label_en": "Malpuech-Michels-Mingarelli-Carnevale syndrome", "label_hira": "3えむしーしょうこうぐん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200804", "id": "NANDO:2200804", "label_ja": "CD59欠損症", "label_en": "Primary CD59 deficiency", "label_hira": "しーでぃー59けっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200805", "id": "NANDO:2200805", "label_ja": "好酸球増加症", "label_en": "Hyper eosinophilic syndrome", "label_hira": "こうさんきゅうぞうかしょう", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200808", "id": "NANDO:2200808", "label_ja": "慢性活動性EBウイルス感染症", "label_en": "Chronic active EB virus infection", "label_hira": "まんせいかつどうせいいーびーういるすかんせんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200847", "id": "NANDO:2200847", "label_ja": "Carpenter症候群", "label_en": "Carpenter syndrome", "label_hira": "かーぺんたーしょうこうぐん", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200863", "id": "NANDO:2200863", "label_ja": "47から53に掲げるもののほか、筋ジストロフィー", "label_en": "Other muscular dystrophy", "label_hira": "47から53にかかげるもののほか、きんじすとろふぃー", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200877", "id": "NANDO:2200877", "label_ja": "乳児重症ミオクロニーてんかん", "label_en": "Severe myoclonic epilepsy in infancy", "label_hira": "にゅうじじゅうしょうみおくろにーてんかん", "notification_number": "74", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200899", "id": "NANDO:2200899", "label_ja": "亜急性硬化性全脳炎", "label_en": "Subacute sclerosing panencephalitis", "label_hira": "あきゅうせいこうかせいぜんのうえん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200940", "id": "NANDO:2200940", "label_ja": "門脈・肝動脈瘻", "label_en": "Congenital hepatoportal arteriovenous fistula", "label_hira": "もんみゃく・かんどうみゃくろう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200954", "id": "NANDO:2200954", "label_ja": "スミス・マギニス症候群", "label_en": "Smith-Magenis syndrome", "label_hira": "すみす・まぎにすしょうこうぐん", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200977", "id": "NANDO:2200977", "label_ja": "コフィン・シリス症候群", "label_en": "Coffin-Siris syndrome", "label_hira": "こふぃん・しりすしょうこうぐん", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200980", "id": "NANDO:2200980", "label_ja": "メビウス症候群", "label_en": "Moebius syndrome", "label_hira": "めびうすしょうこうぐん", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200988", "id": "NANDO:2200988", "label_ja": "常染色体優性表皮融解性魚鱗癬", "label_en": "Autosomal dominant epidermolytic ichthyosis", "label_hira": "じょうせんしょくたいゆうせいひょうひゆうかいせいぎょりんせん", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200989", "id": "NANDO:2200989", "label_ja": "常染色体劣性表皮融解性魚鱗癬", "label_en": "Autosomal recessive epidermolytic ichthyosis", "label_hira": "じょうせんしょくたいれっせいひょうひゆうかいせいぎょりんせん", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201006", "id": "NANDO:2201006", "label_ja": "スティーヴンス・ジョンソン症候群", "label_en": "Stevens-Johnson syndrome", "label_hira": "すてぃーぶんす・じょんそんしょうこうぐん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201009", "id": "NANDO:2201009", "label_ja": "軟骨無形成症", "label_en": "Achondroplasia", "label_hira": "なんこつむけいせいしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201012", "id": "NANDO:2201012", "label_ja": "低ホスファターゼ症", "label_en": "Hypophosphatasia", "label_hira": "ていほすふぁたーぜしょう", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201026", "id": "NANDO:2201026", "label_ja": "ビールズ症候群", "label_en": "Beals syndrome", "label_hira": "びーるずしょうこうぐん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201027", "id": "NANDO:2201027", "label_ja": "青色ゴムまり様母斑症候群", "label_en": "Blue rubber bleb nevus syndrome", "label_hira": "あおいろごむまりようぼはんしょうこうぐん", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201033", "id": "NANDO:2201033", "label_ja": "リンパ管腫症", "label_en": "Lymphangiomatosis", "label_hira": "りんぱかんしゅしょう", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201040", "id": "NANDO:2201040", "label_ja": "気管支軟化症", "label_en": "Bronchomalacia", "label_hira": "きかんしなんかしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201058", "id": "NANDO:2201058", "label_ja": "若年性特発性関節炎（リウマトイド因子陽性多関節炎）", "label_en": "Rheumatoid factor-positive juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（りうまといどいんしようせいたかんせつえん）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201059", "id": "NANDO:2201059", "label_ja": "若年性特発性関節炎（乾癬性関節炎）", "label_en": "Psoriatic juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（かんせんせいかんせつえん）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201070", "id": "NANDO:2201070", "label_ja": "MODY2", "label_en": "Maturity-onset diabetes of the young type 2", "label_hira": "えむおーでぃーわい2", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201077", "id": "NANDO:2201077", "label_ja": "BH4反応性高フェニルアラニン血症", "label_en": "BH4-responsive hyperphenylalaninemia", "label_hira": "びーえいち4はんのうせいこうふぇにるあらにんけっしょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201079", "id": "NANDO:2201079", "label_ja": "中間型メープルシロップ尿症", "label_en": "Intermediate maple syrup urine disease", "label_hira": "ちゅうかんがためーぷるしろっぷにょうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201089", "id": "NANDO:2201089", "label_ja": "遅発型カルバミルリン酸合成酵素欠損症", "label_en": "Late-onset carbamoylphosphate synthetase deficiency", "label_hira": "ちはつがたかるばみるりんさんごうせいこうそけっそんしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201148", "id": "NANDO:2201148", "label_ja": "新生児期発症型三頭酵素欠損症", "label_en": "Trifunctional protein deficiency, lethal type", "label_hira": "しんせいじきはっしょうがたさんとうこうそけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201149", "id": "NANDO:2201149", "label_ja": "乳幼児期発症型三頭酵素欠損症", "label_en": "Trifunctional protein deficiency, intermediate type", "label_hira": "にゅうようじきはっしょうがたさんとうこうそけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201154", "id": "NANDO:2201154", "label_ja": "糖原病Ib型", "label_en": "Glycogen storage disease type 1b", "label_hira": "とうげんびょう1びーがた", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201158", "id": "NANDO:2201158", "label_ja": "糖原病IIId型", "label_en": "Glycogen storage disease type 3d", "label_hira": "とうげんびょう3でぃーがた", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201160", "id": "NANDO:2201160", "label_ja": "非進行性肝型糖原病IV型", "label_en": "Glycogen storage disease type IV, non-progressive hepatic form", "label_hira": "ひしんこうせいかんがたとうげんびょう4がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201164", "id": "NANDO:2201164", "label_ja": "糖原病IXa型", "label_en": "Glycogen storage disease type IXa", "label_hira": "とうげんびょう9えーがた", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201165", "id": "NANDO:2201165", "label_ja": "糖原病IXb型", "label_en": "Glycogen storage disease type IXb", "label_hira": "とうげんびょう9びーがた", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201182", "id": "NANDO:2201182", "label_ja": "重症型ムコ多糖症VI型", "label_en": "Mucopolysaccharidosis type VI, severe form", "label_hira": "じゅうしょうがたむこたとうしょう6がた", "notification_number": "133", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201199", "id": "NANDO:2201199", "label_ja": "テイ・サックス病", "label_en": "Tay-Sachs disease", "label_hira": "てい・さっくすびょう", "notification_number": "119", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201222", "id": "NANDO:2201222", "label_ja": "軽症型ファーバー病", "label_en": "Type 3 Farber disease", "label_hira": "けいしょうがたふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201224", "id": "NANDO:2201224", "label_ja": "進行性神経障害型ファーバー病", "label_en": "Type 5 Farber disease", "label_hira": "しんこうせいしんけいしょうがいがたふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201225", "id": "NANDO:2201225", "label_ja": "サンドホフ病合併型ファーバー病", "label_en": "Type 6 Farber disease", "label_hira": "さんどほふびょうがっぺいがたふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201236", "id": "NANDO:2201236", "label_ja": "非腎型シスチン症", "label_en": "Non-nephropathic cystinosis ", "label_hira": "ひじんがたしすちんしょう", "notification_number": "120", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201248", "id": "NANDO:2201248", "label_ja": "副腎脊髄ニューロパチー", "label_en": "Adrenomyeloneuropathy", "label_hira": "ふくじんせきずいにゅーろぱちー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201271", "id": "NANDO:2201271", "label_ja": "特発性自己免疫性溶血性貧血", "label_en": "Idiopathic autoimmune hemolytic anemia", "label_hira": "とくはつせいじこめんえきせいようけつせいひんけつ", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201273", "id": "NANDO:2201273", "label_ja": "α - サラセミア", "label_en": "α-thalassemia", "label_hira": "あるふぁさらせみあ", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201290", "id": "NANDO:2201290", "label_ja": "基底核および小脳萎縮を伴う髄鞘形成不全症", "label_en": "Hypomyelination with atrophy of the basal ganglia and cerebellum", "label_hira": "きていかくおよびしょうのういしゅくをともなうずいしょうけいせいふぜんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201325", "id": "NANDO:2201325", "label_ja": "潜在性全身型重症筋無力症", "label_en": "Latent general myasthenia gravis", "label_hira": "せんざいせいぜんしんがたじゅうしょうきんむりょくしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201347", "id": "NANDO:2201347", "label_ja": "扁平椎異形成症 Torrance型", "label_en": "Platyspondylic dysplasia, Torrance type", "label_hira": "へんぺいついいけいせいしょう とーらんすがた", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201373", "id": "NANDO:2201373", "label_ja": "巨大動静脈奇形（Stage IV）", "label_en": "Stage IV huge arteriovenous malformation", "label_hira": "きょだいどうじょうみゃくきけい（すてーじ4）", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201378", "id": "NANDO:2201378", "label_ja": "ヘルリッツ型表皮水疱症", "label_en": "Herlitz junctional epidermolysis bullosa", "label_hira": "へるりっつがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201422", "id": "NANDO:2201422", "label_ja": "線状強皮症", "label_en": "Linear scleroderma", "label_hira": "せんじょうきょうひしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201433", "id": "NANDO:2201433", "label_ja": "脊髄性筋萎縮症IV型", "label_en": "Spinal muscular atrophy type IV", "label_hira": "せきずいせいきんいしゅくしょう4がた", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201445", "id": "NANDO:2201445", "label_ja": "後天性全身性脂肪萎縮症", "label_en": "Acquired generalized lipodystrophy", "label_hira": "こうてんせいぜんしんせいしぼういしゅくしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201425", "id": "NANDO:2201425", "label_ja": "Mixed morphea", "label_en": "Mixed morphea", "label_hira": "", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_3000005", "id": "NANDO:3000005", "label_ja": "タンパク尿群", "label_en": "Proteinuria group", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201116", "id": "NANDO:1201116", "label_ja": "ロウ症候群", "label_en": "Lowe syndrome", "label_hira": "ろうしょうこうぐん", "notification_number": "348", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201488", "id": "NANDO:2201488", "label_ja": "脊髄空洞症", "label_en": "Syringomyelia", "label_hira": "せきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201496", "id": "NANDO:2201496", "label_ja": "その他の続発性脊髄空洞症", "label_en": "Syringomyelia secondary to other causes", "label_hira": "そのたのぞくはつせいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201533", "id": "NANDO:2201533", "label_ja": "続発性脊髄空洞症", "label_en": "secondary syringomyelia", "label_hira": "ぞくはつせいせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200010", "id": "NANDO:1200010", "label_ja": "パーキンソン病", "label_en": "Parkinson's disease", "label_hira": "ぱーきんそんびょう", "notification_number": "6", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200029", "id": "NANDO:1200029", "label_ja": "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", "label_en": "Chronic inflammatory demyelinating polyneuropathy/Multifocal motor neuropathy", "label_hira": "まんせいえんしょうせいだつずいせいたはつしんけいえん／ たそうせいうんどうにゅーろぱちー", "notification_number": "14", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200035", "id": "NANDO:1200035", "label_ja": "MSA-C", "label_en": "Multiple system atrophy, cerebellar type", "label_hira": "えむえすえーしー", "notification_number": "17", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200052", "id": "NANDO:1200052", "label_ja": "痙性対麻痺", "label_en": "Hereditary spastic paraplegia", "label_hira": "けいせいついまひ", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200057", "id": "NANDO:1200057", "label_ja": "ゴーシェ病1型", "label_en": "Gaucher disease type 1", "label_hira": "ごーしぇびょう1がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200074", "id": "NANDO:1200074", "label_ja": "クラッベ病", "label_en": "Krabbe disease", "label_hira": "くらっべびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200079", "id": "NANDO:1200079", "label_ja": "後期乳児型異染性白質ジストロフィー", "label_en": "Late infantile metachromatic leukodystrophy", "label_hira": "こうきにゅうじがたいせんせいはくしつじすとろふぃー", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200098", "id": "NANDO:1200098", "label_ja": "ハンター症候群（重症型）", "label_en": "Hunter syndrome type A", "label_hira": "はんたーしょうこうぐん（じゅうしょうがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200105", "id": "NANDO:1200105", "label_ja": "モルキオ症候群", "label_en": "Morquio syndrome", "label_hira": "もるきおしょうこうぐん", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200113", "id": "NANDO:1200113", "label_ja": "Sly病（中間型）", "label_en": "Sly syndrome, intermediate form", "label_hira": "すらいびょう（ちゅうかんがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200131", "id": "NANDO:1200131", "label_ja": "乳児型フコシドーシス", "label_en": "Fucosidosis, infantile form", "label_hira": "にゅうじがたふこしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200156", "id": "NANDO:1200156", "label_ja": "セロイドリポフスチノーシス（非定型型）", "label_en": "Atypical neuronal-ceroid lipofuscinosis", "label_hira": "せろいどりぽふすちのーしす（ひていけいがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200171", "id": "NANDO:1200171", "label_ja": "アジソン型副腎白質ジストロフィー", "label_en": "Addison-only adrenoleukodystrophy", "label_hira": "あじそんがたふくじんはくしつじすとろふぃー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200186", "id": "NANDO:1200186", "label_ja": "プリオン病", "label_en": "Prion disease", "label_hira": "ぷりおんびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200190", "id": "NANDO:1200190", "label_ja": "ゲルストマン・ストロイスラー・シャインカー病", "label_en": "Gerstmann-Straussler-Scheinker syndrome", "label_hira": "げるすとまん・すとろいすらー・しゃいんかーびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200197", "id": "NANDO:1200197", "label_ja": "急速進行型亜急性硬化性全脳炎", "label_en": "Rapidly progressive subacute sclerosing panencephalitis", "label_hira": "きゅうそくしんこうがたあきゅうせいこうかせいぜんのうえん", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200216", "id": "NANDO:1200216", "label_ja": "遠位型ミオパチー", "label_en": "Distal myopathy", "label_hira": "えんいがたみおぱちー", "notification_number": "30", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200268", "id": "NANDO:1200268", "label_ja": "動脈血栓症を有する抗リン脂質抗体症候群", "label_en": "Arterial thrombosis in antiphospholipid syndrome", "label_hira": "どうみゃくけっせんしょうをゆうするこうりんししつこうたいしょうこうぐん", "notification_number": "48", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200273", "id": "NANDO:1200273", "label_ja": "皮膚筋炎／多発性筋炎", "label_en": "Dermatomyositis/Polymyositis", "label_hira": "ひふきんえん／たはつせいきんえん", "notification_number": "50", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200279", "id": "NANDO:1200279", "label_ja": "シェーグレン症候群", "label_en": "Sjogren's syndrome", "label_hira": "しぇーぐれんしょうこうぐん", "notification_number": "53", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200293", "id": "NANDO:1200293", "label_ja": "特発性拘束型心筋症", "label_en": "Idiopathic restrictive cardiomyopathy", "label_hira": "とくはつせいこうそくがたしんきんしょう", "notification_number": "59", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200299", "id": "NANDO:1200299", "label_ja": "肝炎後再生不良性貧血", "label_en": "Hepatitis-associated aplastic anemia", "label_hira": "かんえんごさいせいふりょうせいひんけつ", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200301", "id": "NANDO:1200301", "label_ja": "MDSとの境界型", "label_en": "Borderline between aplastic anemia and MDS", "label_hira": "えむでぃーえすとのきょうかいがた", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200308", "id": "NANDO:1200308", "label_ja": "発作性寒冷ヘモグロビン尿症", "label_en": "Paroxysmal cold hemoglobinuria", "label_hira": "ほっさせいかんれいへもぐろびんにょうしょう", "notification_number": "61", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100007", "id": "NANDO:1100007", "label_ja": "腎・泌尿器系疾患", "label_en": "Renal and urological disease", "label_hira": "じん・ひにょうきけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100010", "id": "NANDO:1100010", "label_ja": "呼吸器系疾患", "label_en": "Respiratory disease", "label_hira": "こきゅうきけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200303", "id": "NANDO:1200303", "label_ja": "obsolete ファンコニ貧血", "label_en": "obsolete Fanconi anemia", "label_hira": "ふぁんこにひんけつ", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200318", "id": "NANDO:1200318", "label_ja": "後天性原発性血栓性血小板減少性紫斑病", "label_en": "Acquired idiopathic thrombotic thrombocytopenic purpura", "label_hira": "こうてんせいげんぱつせいけっせんせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "64", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200324", "id": "NANDO:1200324", "label_ja": "オーメン症候群", "label_en": "Omenn syndrome", "label_hira": "おーめんしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200330", "id": "NANDO:1200330", "label_ja": "ウィスコット・オルドリッチ症候群", "label_en": "Wiskott-Aldrich syndrome", "label_hira": "うぃすこっと・おるどりっちしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200337", "id": "NANDO:1200337", "label_ja": "シムケ症候群", "label_en": "Schimke syndrome", "label_hira": "しむけしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200346", "id": "NANDO:1200346", "label_ja": "IgGサブクラス欠損症", "label_en": "IgG subclass deficiency", "label_hira": "あいじーじーさぶくらすけっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200362", "id": "NANDO:1200362", "label_ja": "MyD88欠損症", "label_en": "MyD88 deficiency", "label_hira": "みっど88 / まいでぃー88けっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200375", "id": "NANDO:1200375", "label_ja": "中枢性尿崩症", "label_en": "Central diabetes insipidus", "label_hira": "ちゅうすうせいにょうほうしょう", "notification_number": "72", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200386", "id": "NANDO:1200386", "label_ja": "下垂体性成長ホルモン分泌亢進症", "label_en": "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of growth hormone", "label_hira": "かすいたいせいせいちょうほるもんぶんぴつこうしんしょう", "notification_number": "77", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200388", "id": "NANDO:1200388", "label_ja": "ゴナドトロピン分泌低下症", "label_en": "Hypogonadotropic hypogonadism", "label_hira": "ごなどとろぴんぶんぷつていかしょう", "notification_number": "78", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200389", "id": "NANDO:1200389", "label_ja": "副腎皮質刺激ホルモン分泌低下症", "label_en": "Syndrome of abnormal secretion of adrenocorticotropic hormone", "label_hira": "ふくじんひしつしげきほるもんぶんぴつていかしょう", "notification_number": "78", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200390", "id": "NANDO:1200390", "label_ja": "甲状腺刺激ホルモン分泌低下症", "label_en": "Thyroid-stimulating hormone deficiency", "label_hira": "こうじょうせんしげきほるもんぶんぴつていかしょう", "notification_number": "78", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200396", "id": "NANDO:1200396", "label_ja": "先天性副腎皮質酵素欠損症", "label_en": "Congenital adrenal enzyme deficiency", "label_hira": "せんてんせいふくじんひしつこうそけっそんしょう", "notification_number": "81", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200398", "id": "NANDO:1200398", "label_ja": "3β−水酸化ステロイド脱水素酵素欠損症", "label_en": "3-β-Hydroxysteroid dehydrogenase deficiency", "label_hira": "3べーたすいさんかすてろいどだっすいそこうそけっそんしょう", "notification_number": "81", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200404", "id": "NANDO:1200404", "label_ja": "NR0B1異常症", "label_en": "NR0B1　abnormality", "label_hira": "NR0B1いじょうしょう", "notification_number": "82", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200428", "id": "NANDO:1200428", "label_ja": "肺毛細血管腫症", "label_en": "Pulmonary capillary hemangiomatosis", "label_hira": "はいもうさいけっかんしゅしょう", "notification_number": "87", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200430", "id": "NANDO:1200430", "label_ja": "リンパ脈管筋腫症", "label_en": "Lymphangioleiomyomatosis", "label_hira": "りんぱみゃくかんきんしゅしょう", "notification_number": "89", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200435", "id": "NANDO:1200435", "label_ja": "網膜色素変性症（X染色体劣性遺伝型）", "label_en": "X-linked recessive retinitis pigmentosa", "label_hira": "もうまくしきそへんせいしょう（えっくすせんしょくたいれっせいいでんがた）", "notification_number": "90", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200440", "id": "NANDO:1200440", "label_ja": "原発性硬化性胆管炎", "label_en": "Primary sclerosing cholangitis", "label_hira": "げんぱつせいこうかせいたんかんえん", "notification_number": "94", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200448", "id": "NANDO:1200448", "label_ja": "特殊型クローン病", "label_en": "Atypical Crohn's disease", "label_hira": "とくしゅがたくろーんびょう", "notification_number": "96", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200453", "id": "NANDO:1200453", "label_ja": "潰瘍性大腸炎（右側型）", "label_en": "Right-sided ulcerative colitis", "label_hira": "かいようせいだいちょうえん（みぎがわがた）", "notification_number": "97", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200459", "id": "NANDO:1200459", "label_ja": "巨大膀胱短小結腸腸管蠕動不全症", "label_en": "Megacystis-microcolon-intestinal hypoperistalsis syndrome", "label_hira": "きょだいぼうこうたんしょうけっちょうちょうかんぜんどうふぜんしょう", "notification_number": "100", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200477", "id": "NANDO:1200477", "label_ja": "先天性ミオパチー", "label_en": "Congenital myopathy", "label_hira": "せんてんせいみおぱちー", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200480", "id": "NANDO:1200480", "label_ja": "ミニコア病", "label_en": "Minicore myopathy", "label_hira": "みにこあびょう", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200494", "id": "NANDO:1200494", "label_ja": "福山型先天性筋ジストロフィー", "label_en": "Fukuyama type congenital muscular dystrophy", "label_hira": "ふくやまがたせんてんせいきんじすとろふぃー", "notification_number": "113", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200498", "id": "NANDO:1200498", "label_ja": "トムゼン病", "label_en": "Thomsen disease", "label_hira": "とむぜんびょう", "notification_number": "114", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200549", "id": "NANDO:1200549", "label_ja": "（行動異常型）前頭側頭型認知症", "label_en": "Behavioral variant frontotemporal dementia", "label_hira": "(こうどういじょうがた)ぜんとうそくとうがたにんちしょう", "notification_number": "127", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200550", "id": "NANDO:1200550", "label_ja": "意味性認知症", "label_en": "Semantic dementia", "label_hira": "いみせいにんちしょう", "notification_number": "127", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200551", "id": "NANDO:1200551", "label_ja": "ビッカースタッフ脳幹脳炎", "label_en": "Bickerstaff's brainstem encephalitis", "label_hira": "びっかーすたっふのうかんのうえん", "notification_number": "128", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200553", "id": "NANDO:1200553", "label_ja": "先天性無痛無汗症", "label_en": "Congenital insensitivity to pain with anhidrosis", "label_hira": "せんてんせいむつうむかんしょう", "notification_number": "130", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200576", "id": "NANDO:1200576", "label_ja": "ペリツェウス・メルツバッハ病", "label_en": "Pelizaeus-Merzbacher disease", "label_hira": "ぺりつぇうす・めるつばっはびょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200640", "id": "NANDO:1200640", "label_ja": "グリセリ症候群", "label_en": "Griscelli syndrome", "label_hira": "ぐりせりしょうこうぐん", "notification_number": "164", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200342", "id": "NANDO:1200342", "label_ja": "obsolete 先天性角化不全症", "label_en": "obsolete Dyskeratosis congenita", "label_hira": "せんてんせいかくかふぜんしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200629", "id": "NANDO:1200629", "label_ja": "obsolete CHILD症候群", "label_en": "obosolete CHILD syndrome", "label_hira": "ちゃいるどしょうこうぐん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200662", "id": "NANDO:1200662", "label_ja": "有馬症候群", "label_en": "Arima syndrome", "label_hira": "ありましょうこうぐん", "notification_number": "177", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200666", "id": "NANDO:1200666", "label_ja": "クルーゾン症候群", "label_en": "Crouzon's syndrome", "label_hira": "くるーぞんしょうこうぐん", "notification_number": "181", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200678", "id": "NANDO:1200678", "label_ja": "プラダー・ウィリ症候群", "label_en": "Prader-Willi syndrome", "label_hira": "ぷらだー・うぃりしょうこうぐん", "notification_number": "193", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200685", "id": "NANDO:1200685", "label_ja": "第14番染色体父親性ダイソミー症候群", "label_en": "Paternal uniparental disomy of chromosome 14", "label_hira": "だい14ばんせんしょくたいちちおやせいだいそみーしょうこうぐん", "notification_number": "200", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200692", "id": "NANDO:1200692", "label_ja": "脆弱X症候群", "label_en": "Fragile X syndrome", "label_hira": "ぜいじゃくえっくすしょうこうぐん", "notification_number": "206", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200695", "id": "NANDO:1200695", "label_ja": "総動脈幹遺残症II型", "label_en": "Truncus arteriosus communis type II", "label_hira": "そうどうみゃくかんいざんしょう2がた", "notification_number": "207", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200699", "id": "NANDO:1200699", "label_ja": "完全大血管転位症", "label_en": "Complete transposition of the great arteries", "label_hira": "かんぜんだいけっかんてんいしょう", "notification_number": "209", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200719", "id": "NANDO:1200719", "label_ja": "一次性ネフローゼ症候群", "label_en": "Primary nephrotic syndrome", "label_hira": "いちじせいねふろーぜしょうこうぐん", "notification_number": "222", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200722", "id": "NANDO:1200722", "label_ja": "巣状分節性糸球体硬化症", "label_en": "Focal segmental glomerulosclerosis", "label_hira": "そうじょうぶんせつせいしきゅうたいこうかしょう", "notification_number": "222", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200752", "id": "NANDO:1200752", "label_ja": "肥満低換気症候群", "label_en": "Obesity hypoventilation syndrome", "label_hira": "ひまんていかんきしょうこうぐん", "notification_number": "230", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200761", "id": "NANDO:1200761", "label_ja": "新生児型副腎白質ジストロフィー", "label_en": "Neonatal adrenoleukodystrophy", "label_hira": "しんせいじがたふくじんはくしつじすとろふぃー", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200768", "id": "NANDO:1200768", "label_ja": "２-メチルアシルCoAラセマーゼ欠損症", "label_en": "Alpha-methylacyl-CoA racemase deficiency", "label_hira": "2めちるあしるこえーらせまーぜけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200771", "id": "NANDO:1200771", "label_ja": "根性点状軟骨異形成症2型", "label_en": "Rhizomelic chondrodysplasia punctata type 2", "label_hira": "こんじょうてんじょうなんこついけいせいしょう2がた", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200779", "id": "NANDO:1200779", "label_ja": "ビタミンD抵抗性くる病", "label_en": "Vitamin D-resistant rickets", "label_hira": "びたみんでぃーていこうせいくるびょう", "notification_number": "238", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200787", "id": "NANDO:1200787", "label_ja": "BH4反応性高Phe血症", "label_en": "Tetrahydrobiopterin-responsive hyperphenylalaninemia", "label_hira": "びーえいち4はんのうせいこうぴーえいちいーけっしょう", "notification_number": "240", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200798", "id": "NANDO:1200798", "label_ja": "イソ吉草酸血症", "label_en": "Isovaleric acidemia", "label_hira": "いそきっそうさんけっしょう", "notification_number": "247", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200807", "id": "NANDO:1200807", "label_ja": "アルギニン血症", "label_en": "Argininemia", "label_hira": "あるぎにんけっしょう", "notification_number": "251", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200815", "id": "NANDO:1200815", "label_ja": "赤芽球性プロトポルフィリン症", "label_en": "Erythropoietic protoporphyria", "label_hira": "せきがきゅうせいぷろとぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200831", "id": "NANDO:1200831", "label_ja": "ホスホグリセリン酸キナーゼ欠損症", "label_en": "Phosphoglycerate kinase deficiency", "label_hira": "ほすほぐりせりんさんきなーぜけっそんしょう", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200837", "id": "NANDO:1200837", "label_ja": "筋型糖原病XV型", "label_en": "Glycogen storage diseases type XV", "label_hira": "きんがたとうげんびょう15がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200871", "id": "NANDO:1200871", "label_ja": "進行性骨化性線維異形成症", "label_en": "Fibrodysplasia ossificans progressiva", "label_hira": "しんこうせいこっかせいせんいいけいせいしょう", "notification_number": "272", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200872", "id": "NANDO:1200872", "label_ja": "肋骨異常を伴う先天性側弯症", "label_en": "Congenital scoliosis with rib anomalies", "label_hira": "ろっこついじょうをともなうせんていせいそくわんしょう", "notification_number": "273", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200892", "id": "NANDO:1200892", "label_ja": "遺伝性鉄芽球性貧血", "label_en": "Hereditary sideroblastic anemia", "label_hira": "いでんせいてつがきゅうせいひんけつ", "notification_number": "286", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200893", "id": "NANDO:1200893", "label_ja": "エプスタイン症候群", "label_en": "Epstein syndrome", "label_hira": "えぷすたいんしょうこうぐん", "notification_number": "287", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200899", "id": "NANDO:1200899", "label_ja": "自己免疫性後天性フォンウィルブランド因子欠乏症", "label_en": "Acquired von Willebrand disease", "label_hira": "じこめんえきせいこうてんせいふぉんうぃるぶらんどいんしけつぼうしょう", "notification_number": "288", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200909", "id": "NANDO:1200909", "label_ja": "総排泄腔外反症", "label_en": "Cloacal exstrophy", "label_hira": "そうはいせつくうがいはんしょう", "notification_number": "292", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200922", "id": "NANDO:1200922", "label_ja": "嚢胞性線維症", "label_en": "Cystic fibrosis", "label_hira": "のうほうせいせんいしょう", "notification_number": "299", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200937", "id": "NANDO:1200937", "label_ja": "錐体杆体ジストロフィー", "label_en": "Cone-rod dystrophy", "label_hira": "すいたいかんたいじすとろふぃー", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200946", "id": "NANDO:1200946", "label_ja": "遅発性内リンパ水腫", "label_en": "Delayed endolymphatic hydrops", "label_hira": "ちはつせいないりんぱすいしゅ", "notification_number": "305", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200954", "id": "NANDO:1200954", "label_ja": "ウンフェルリヒト・ルントボルグ病", "label_en": "Unverricht-Lundborg disease", "label_hira": "うんふぇるりひと・るんとぼるくびょう", "notification_number": "309", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200960", "id": "NANDO:1200960", "label_ja": "コルネリア・デランゲ症候群", "label_en": "Cornelia de lange syndrome", "label_hira": "こるねりあ・でらんげしょうこうぐん", "notification_number": "310", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200966", "id": "NANDO:1200966", "label_ja": "ネイルパテラ症候群（爪膝蓋骨症候群）／LMX1B関連腎症", "label_en": "Nail-patella syndrome/LMX1B-associated nephropathy", "label_hira": "ねいるぱてらしょうこうぐん（そうしつがいこつしょうこうぐん）／えるえむえっくす1びーかんれんじんしょう", "notification_number": "315", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200974", "id": "NANDO:1200974", "label_ja": "三頭酵素欠損症", "label_en": "Trifunctional protein deficiency", "label_hira": "さんとうこうそけっそんしょう", "notification_number": "317", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200979", "id": "NANDO:1200979", "label_ja": "新生児肝内胆汁うっ滞症", "label_en": "Neonatal intrahepatic cholestasis caused by citrin deficiency", "label_hira": "しんせいじかんないたんじゅううったいしょう", "notification_number": "318", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200989", "id": "NANDO:1200989", "label_ja": "メチルグルタコン酸尿症", "label_en": "Methylglutaconic aciduria", "label_hira": "めちるぐるたこんさんにょうしょう", "notification_number": "324", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200992", "id": "NANDO:1200992", "label_ja": "メチルグルタコン酸尿症III型", "label_en": "3-methylglutaconic aciduria type III", "label_hira": "めちるぐるたこんさんにょうしょう3がた", "notification_number": "324", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200996", "id": "NANDO:1200996", "label_ja": "エカルディ・グティエール症候群", "label_en": "Aicardi-Goutières Syndrome", "label_hira": "えかるでぃ・ぐてぃえーるしょうこうぐん", "notification_number": "325", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201008", "id": "NANDO:1201008", "label_ja": "限局型多発血管炎性肉芽腫症", "label_en": "Limited form of granulomatosis with polyangiitis", "label_hira": "げんきょくがたたはつけっかんえんせいにくげしゅしょう", "notification_number": "44", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201013", "id": "NANDO:1201013", "label_ja": "多周期性全身型成人スチル病", "label_en": "Polycyclic adult onset Still's disease", "label_hira": "たしゅうきせいぜんしんがたせいじんすちるびょう", "notification_number": "54", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201027", "id": "NANDO:1201027", "label_ja": "慢性進行型神経ベーチェット病", "label_en": "Chronic progressive Neuro-Behçet's disease", "label_hira": "まんせいしんこうがたしんけいべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201028", "id": "NANDO:1201028", "label_ja": "急性型神経ベーチェット病", "label_en": "Acute Neuro-Behçet's disease", "label_hira": "きゅうせいがたしんけいべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201047", "id": "NANDO:1201047", "label_ja": "進行性家族性肝内胆汁うっ滞症5型", "label_en": "Progressive familial intrahepatic cholestasis type 5", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう5がた", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201057", "id": "NANDO:1201057", "label_ja": "発作性無呼吸を伴う先天性筋無力症", "label_en": "Congenital myasthenic syndrome with episodic apnoea", "label_hira": "ほっさせいむこきゅうをともなうせんてんせいきんむりょくしょう", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201072", "id": "NANDO:1201072", "label_ja": "敷石様皮質異形成", "label_en": "Cobblestone brain malformation", "label_hira": "しきいしようひしついけいせい", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201080", "id": "NANDO:1201080", "label_ja": "先天性プロテインC欠乏症 ", "label_en": "Protein C deficiency", "label_hira": "せんてんせいぷろていんしーけつぼうしょう", "notification_number": "327", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201090", "id": "NANDO:1201090", "label_ja": "ミオパチー型エーラス・ダンロス症候群", "label_en": "Myopathic Ehlers-Danlos syndrome", "label_hira": "みおぱちーがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201094", "id": "NANDO:1201094", "label_ja": "ビタミンD依存症 3型", "label_en": "Vitamin D-dependent rickets, type 3", "label_hira": "びたみんでぃーいぞんしょう3がた", "notification_number": "239", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100004", "id": "NANDO:2100004", "label_ja": "リンパ腫", "label_en": "Lymphoma", "label_hira": "りんぱしゅ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100013", "id": "NANDO:2100013", "label_ja": "アミロイド腎", "label_en": "Amyloid nephropathy", "label_hira": "あみろいどじん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100037", "id": "NANDO:2100037", "label_ja": "特発性肺ヘモジデローシス", "label_en": "Idiopathic pulmonary hemosiderosis", "label_hira": "とくはつせいはいへもじでろーしす", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100061", "id": "NANDO:2100061", "label_ja": "心臓腫瘍", "label_en": "Cardiac tumor", "label_hira": "しんぞうしゅよう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100071", "id": "NANDO:2100071", "label_ja": "左心低形成症候群", "label_en": "Hypoplastic left heart syndrome", "label_hira": "さしんていけいせいしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100074", "id": "NANDO:2100074", "label_ja": "肺動脈閉鎖症 ", "label_en": "Pulmonary atresia", "label_hira": "はいどうみゃくへいさしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100075", "id": "NANDO:2100075", "label_ja": "ファロー四徴症", "label_en": "Tetralogy of Fallot", "label_hira": "ふぁろーしちょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100079", "id": "NANDO:2100079", "label_ja": "先天性修正大血管転位症", "label_en": "Congenitally corrected transposition of the great arteries", "label_hira": "せんてんせいしゅうせいだいけっかんてんいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100081", "id": "NANDO:2100081", "label_ja": "総動脈幹遺残症", "label_en": "Truncus arteriosus communis", "label_hira": "そうどうみゃくかんいざんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100102", "id": "NANDO:2100102", "label_ja": "動静脈瘻", "label_en": "Arteriovenous fistulae", "label_hira": "どうじょうみゃくろう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100111", "id": "NANDO:2100111", "label_ja": "下垂体性巨人症", "label_en": "Pituitary gigantism", "label_hira": "かすいたいせいきょじんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100131", "id": "NANDO:2100131", "label_ja": "リドル症候群", "label_en": "Liddle syndrome", "label_hira": "りどるしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100137", "id": "NANDO:2100137", "label_ja": "アンドロゲン過剰症", "label_en": "Hyperandrogenism (excluding precocious puberty)", "label_hira": "あんどろげんかじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100154", "id": "NANDO:2100154", "label_ja": "再発性多発軟骨炎", "label_en": "Relapsing Polychondritis", "label_hira": "さいはつせいたはつなんこつえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100155", "id": "NANDO:2100155", "label_ja": "皮膚・結合組織疾患", "label_en": "Skin and connective tissue disease", "label_hira": "ひふ・けつごうそしきしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100161", "id": "NANDO:2100161", "label_ja": "有機酸代謝異常症", "label_en": "Disorder of organic acid metabolism", "label_hira": "ゆうきさんたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100177", "id": "NANDO:2100177", "label_ja": "赤芽球癆", "label_en": "Pure red cell aplasia", "label_hira": "せきがきゅうろう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100189", "id": "NANDO:2100189", "label_ja": "血栓性血小板減少性紫斑病", "label_en": "Thrombotic thrombocytopenic purpura", "label_hira": "けっせんせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100190", "id": "NANDO:2100190", "label_ja": "血小板減少症（脾機能亢進症によるものに限る。）", "label_en": "Thrombocytopenia (limited to those caused by hypersplenism.)", "label_hira": "けっしょうばんげんしょうしょう（ひきのうこうしんしょうによるものにかぎる。）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200004", "id": "NANDO:2200004", "label_ja": "急性骨髄性白血病、最未分化", "label_en": "Acute myeloid leukemia with minimal differentiation", "label_hira": "きゅうせいこつずいせいはっけつびょう、さいみぶんか", "notification_number": "71", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201173", "id": "NANDO:2201173", "label_ja": "重症型ムコ多糖症II型", "label_en": "Mucopolysaccharidosis type II, severe form", "label_hira": "じゅうしょうがたむこたとうしょう2がた", "notification_number": "130", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201178", "id": "NANDO:2201178", "label_ja": "A型ムコ多糖症IV型", "label_en": "Mucopolysaccharidosis type IV A", "label_hira": "えーがたむこたとうしょう4がた", "notification_number": "132", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201185", "id": "NANDO:2201185", "label_ja": "中間型ムコ多糖症VII型", "label_en": "Mucopolysaccharidosis type VII, intermediate form", "label_hira": "ちゅうかんがたむこたとうしょう7がた", "notification_number": "134", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201196", "id": "NANDO:2201196", "label_ja": "乳児型GM1-ガングリオシドーシス", "label_en": "GM1 gangliosidosis, infantile form", "label_hira": "にゅうじがたじーえむ1がんぐりおしどーしす", "notification_number": "118", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201202", "id": "NANDO:2201202", "label_ja": "後期乳児型異染性白質ジストロフィー", "label_en": "Metachromatic leukodystrophy, late infantile form", "label_hira": "こうきにゅうじがたいせんせいはくしつじすとろふぃー", "notification_number": "112", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201203", "id": "NANDO:2201203", "label_ja": "若年型異染性白質ジストロフィー", "label_en": "Metachromatic leukodystrophy, juvenile form", "label_hira": "じゃくねんがたいせんせいはくしつじすとろふぃー", "notification_number": "112", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201215", "id": "NANDO:2201215", "label_ja": "ファブリー病顕性ヘテロ接合体", "label_en": "Heterozygous Fabry disease", "label_hira": "ふぁぶりーびょうけんせいへてろせつごうたい", "notification_number": "124", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201237", "id": "NANDO:2201237", "label_ja": "乳児型遊離シアル酸蓄積症", "label_en": "Infantile free sialic acid storage disease", "label_hira": "にゅうじがたゆうりしあるさんちくせきしょう", "notification_number": "137", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201255", "id": "NANDO:2201255", "label_ja": "家族性高コレステロール血症ホモ接合体", "label_en": "Homozygous familial hypercholesterolemia", "label_hira": "かぞくせいこうこれすてろーるけっしょうほもせつごうたい", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201257", "id": "NANDO:2201257", "label_ja": "関節型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, hypermobility type", "label_hira": "かんせつがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201260", "id": "NANDO:2201260", "label_ja": "多発関節弛緩型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, arthrochalasis type", "label_hira": "たはつかんせつしかんがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201262", "id": "NANDO:2201262", "label_ja": "デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群", "label_en": "Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome", "label_hira": "でるまたん4おーりゅうさんきてんいこうそ1けっそんがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201266", "id": "NANDO:2201266", "label_ja": "赤芽球性プロトポルフィリン症", "label_en": "Erythropoietic protoporphyria", "label_hira": "せきがきゅうせいぷろとぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201276", "id": "NANDO:2201276", "label_ja": "特発性再生不良性貧血", "label_en": "Idiopathic aplastic anemia", "label_hira": "とくはつせいさいせいふりょうせいひんけつ", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201277", "id": "NANDO:2201277", "label_ja": "二次性再生不良性貧血", "label_en": "Secondary aplastic anemia", "label_hira": "にじせいさいせいふりょうせいひんけつ", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201295", "id": "NANDO:2201295", "label_ja": "小脳萎縮と脳梁低形成を伴うびまん性大脳白質形成不全症", "label_en": "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "label_hira": "しょうのういしゅくとのうりょうていけいせいをともなうびまんせいだいのうはくしつけいせいふぜんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201304", "id": "NANDO:2201304", "label_ja": "非症候性頭蓋骨縫合早期癒合症（人字縫合）", "label_en": "Non-syndromic lambdoid craniosynostosis", "label_hira": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（じんじほうごう）", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201320", "id": "NANDO:2201320", "label_ja": "一次性進行型多発性硬化症", "label_en": "Primary progressive multiple sclerosis", "label_hira": "いちじせいしんこうがたたはつせいこうかしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201326", "id": "NANDO:2201326", "label_ja": "全身型重症筋無力症", "label_en": "Generalized myasthenia gravis", "label_hira": "せんしんがたじゅうしょうきんむりょくしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201327", "id": "NANDO:2201327", "label_ja": "I型胆道閉鎖症", "label_en": "Type I biliary atresia", "label_hira": "1がたたんどうへいさしょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201353", "id": "NANDO:2201353", "label_ja": "中足骨短縮を伴う脊椎骨端異形成症", "label_en": "Spondyloepiphyseal dysplasia with metatarsal shortening", "label_hira": "ちゅうそくこつたんしゅくをともなうせきついこったんいけいせいしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201357", "id": "NANDO:2201357", "label_ja": "X染色体優性 Conradi-Hunermann型点状軟骨異形成症", "label_en": "X-linked dominant chondrodysplasia Punctata, Conradi-Hunermann Type", "label_hira": "えっくすせんしょくたいゆうせいこんらーでぃひゅーねるまんがたてんじょうなんこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201359", "id": "NANDO:2201359", "label_ja": "脛骨・中手骨型点状軟骨異形成症", "label_en": "Chondrodysplasia punctata, tibial-metacarpal type", "label_hira": "けいこつ・ちゅうしゅこつがたてんじょうなんこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201367", "id": "NANDO:2201367", "label_ja": "骨幹端異形成症", "label_en": "Metaphyseal dysplasias", "label_hira": "こっかんたんいけいせいしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201372", "id": "NANDO:2201372", "label_ja": "巨大動静脈奇形（Stage III）", "label_en": "Stage III huge arteriovenous malformation", "label_hira": "きょだいどうじょうみゃくきけい（すてーじ3）", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201394", "id": "NANDO:2201394", "label_ja": "片側巨脳症", "label_en": "Hemimegaloencephaly", "label_hira": "へんそくきょのうしょう", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201418", "id": "NANDO:2201418", "label_ja": "コーエン症候群", "label_en": "Cohen syndrome", "label_hira": "こーえんしょうこうぐん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201421", "id": "NANDO:2201421", "label_ja": "斑状強皮症", "label_en": "Circumscribed morphea", "label_hira": "はんじょうきょうひしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201481", "id": "NANDO:2201481", "label_ja": "原発性萎縮腎", "label_en": "Primary atrophic kidney", "label_hira": "げんぱつせいいしゅくじん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201485", "id": "NANDO:2201485", "label_ja": "結節性リンパ球優位型ホジキンリンパ腫", "label_en": "Nodular lymphocyte predominance Hodgkin lymphoma", "label_hira": "けっそくせいりんぱきゅうゆういがたほじきんりんぱしゅ", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201239", "id": "NANDO:2201239", "label_ja": "obsolete 骨系統疾患", "label_en": "obsolete Skeletal dysplasias", "label_hira": "こつけいとうしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_3000006", "id": "NANDO:3000006", "label_ja": "発熱・炎症・皮疹・骨関節症候群", "label_en": "Fever, inflammation, skin rash, bone and joint syndrome group", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201117", "id": "NANDO:1201117", "label_ja": "Andersen-Tawil症候群", "label_en": "Andersen-Tawil syndrome", "label_hira": "あんだーせん・たうぃるしょうこうぐん", "notification_number": "115", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201502", "id": "NANDO:2201502", "label_ja": "限局性皮質異形成タイプ2a", "label_en": "Focal cortical dysplasia type 2a", "label_hira": "げんきょくせいひしついけいせいたいぷ2えー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201529", "id": "NANDO:2201529", "label_ja": "ロスムンド・トムソン症候群 type2", "label_en": "Rothmund-Thomson syndrome type2", "label_hira": "ろすむんど・とむそんしょうこうぐん たいぷ2", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201531", "id": "NANDO:2201531", "label_ja": "ラパデリノ症候群", "label_en": "RAPADILINO symdrome", "label_hira": "らぱでぃりのしょうこうぐん", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201532", "id": "NANDO:2201532", "label_ja": "特発性後天性全身性無汗症", "label_en": "Acquired Idiopathic Generalized Anhidrosis", "label_hira": "とくはつせいこうてんせいぜんしんせいむかんしょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201120", "id": "NANDO:1201120", "label_ja": "シャイ・ドレーガー症候群", "label_en": "Shy-Drager syndrome", "label_hira": "しゃい･どれーがーしょうこうぐん", "notification_number": "17", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201136", "id": "NANDO:1201136", "label_ja": "特殊型ベーチェット病", "label_en": "Atypical Behçet’s disease", "label_hira": "とくしゅがたべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201142", "id": "NANDO:1201142", "label_ja": "DYT5b ジストニア", "label_en": "DYT 5b Dystonia", "label_hira": "でぃーわいてぃー5びーじすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201153", "id": "NANDO:1201153", "label_ja": "Kufor-Rakeb症候群", "label_en": "Kufor-Rakeb syndrome", "label_hira": "くふぉー・らけぶしょうこうぐん", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201155", "id": "NANDO:1201155", "label_ja": "脳内鉄沈着神経変性症2A型", "label_en": "Neurodegeneration with brain iron accumulation type2A", "label_hira": "のうないてつちんちゃくしんけいへんせいしょう2えーがた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201157", "id": "NANDO:1201157", "label_ja": "Karak症候群", "label_en": "Karak syndrome", "label_hira": "からくしょうこうぐん", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201167", "id": "NANDO:1201167", "label_ja": "新生児型エプスタイン病", "label_en": "Neonatal type Ebstein’s anomaly", "label_hira": "しんせいじがたえぷすたいんびょう", "notification_number": "217", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100256", "id": "NANDO:2100256", "label_ja": "obsolete 腸リンパ管拡張症", "label_en": "obsolete Intestinal lymphangiectasia", "label_hira": "ちょうりんぱかんかくちょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200005", "id": "NANDO:2200005", "label_ja": "成熟を伴わない急性骨髄性白血病", "label_en": "Acute myeloid leukemia without maturation", "label_hira": "せいじゅくをともなわないきゅうせいこつずいせいはっけつびょう", "notification_number": "79", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200008", "id": "NANDO:2200008", "label_ja": "急性骨髄単球性白血病", "label_en": "Acute monocytic leukemia", "label_hira": "きゅうせいこつずいたんきゅうせいはっけつびょう", "notification_number": "72", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200016", "id": "NANDO:2200016", "label_ja": "1から15までに掲げるもののほか、白血病", "label_en": "Other leukemia", "label_hira": "1から15までにかかげるもののほか、はっけつびょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200017", "id": "NANDO:2200017", "label_ja": "急性未分化型白血病", "label_en": "Acute undifferentiated leukemia", "label_hira": "きゅうせいみぶんかがたはっけつびょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200023", "id": "NANDO:2200023", "label_ja": "Tリンパ芽球性リンパ腫", "label_en": "Precursor T lymphoblastic lymphoma", "label_hira": "てぃーりんぱがきゅうせいりんぱしゅ", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200027", "id": "NANDO:2200027", "label_ja": "節外性NK/T細胞リンパ腫-鼻型", "label_en": "Extranodal NK/T-cell lymphoma, nasal type", "label_hira": "せつがいせいえぬけー/てぃーさいぼうりんぱしゅ-はながた", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200044", "id": "NANDO:2200044", "label_ja": "腎明細胞肉腫", "label_en": "Clear cell sarcoma of the kidney", "label_hira": "じんめいさいぼうにくしゅ", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200047", "id": "NANDO:2200047", "label_ja": "肝細胞癌", "label_en": "Hepatocellular carcinoma", "label_hira": "かんさいぼうがん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200057", "id": "NANDO:2200057", "label_ja": "悪性ラブドイド腫瘍", "label_en": "Malignant rhabdoid tumour", "label_hira": "あくせいらぶどいどしゅよう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200064", "id": "NANDO:2200064", "label_ja": "平滑筋肉腫", "label_en": "Leiomyosarcoma", "label_hira": "へいかつきんにくしゅ", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200069", "id": "NANDO:2200069", "label_ja": "卵黄嚢腫", "label_en": "Yolk sac tumour", "label_hira": "らんおうのうしゅ", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200092", "id": "NANDO:2200092", "label_ja": "松果体腫", "label_en": "Pineocytoma", "label_hira": "しょうかたいしゅ", "notification_number": "54", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200099", "id": "NANDO:2200099", "label_ja": "未分化神経外胚葉性腫瘍（中枢性のものに限る。）", "label_en": "Primitive neuroectodermal tumour of the central nervous system", "label_hira": "みぶんかしんけいがいはいようせいしゅよう（ちゅうすうせいのものにかぎる。）", "notification_number": "66", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200110", "id": "NANDO:2200110", "label_ja": "フィンランド型先天性ネフローゼ症候群", "label_en": "Congenital nephrotic syndrome of the Finnish type", "label_hira": "ふぃんらんどがたせんてんせいねふろーぜしょうこうぐん", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200112", "id": "NANDO:2200112", "label_ja": "微小変化型ネフローゼ症候群", "label_en": "Minimal change nephrotic syndrome", "label_hira": "びしょうへんかがたねふろーぜしょうこうぐん", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200121", "id": "NANDO:2200121", "label_ja": "IgA腎症", "label_en": "IgA nephropathy", "label_hira": "あいじーえーじんしょう", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200122", "id": "NANDO:2200122", "label_ja": "メサンギウム増殖性糸球体腎炎", "label_en": "Mesangial proliferative glomerulonephritis", "label_hira": "めさんぎうむぞうしょくせいしきゅうたいじんえん", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200134", "id": "NANDO:2200134", "label_ja": "リポタンパク糸球体症", "label_en": "Lipoprotein glomerulopathy", "label_hira": "りぽたんぱくしきゅうたいしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200141", "id": "NANDO:2200141", "label_ja": "腎血管性高血圧", "label_en": "Renovascular hypertension", "label_hira": "じんけっかんせいこうけつあつ", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200172", "id": "NANDO:2200172", "label_ja": "単純性腎嚢胞", "label_en": "Simple renal cyst", "label_hira": "たんじゅんせいじんのうほう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200198", "id": "NANDO:2200198", "label_ja": "先天性中枢性低換気症候群", "label_en": "Congenital central hypoventilation syndrome", "label_hira": "せんてんせいちゅうすうせいていかんきしょうこうぐん", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200201", "id": "NANDO:2200201", "label_ja": "遺伝性間質性肺炎", "label_en": "Familial interstitial pneumonia", "label_hira": "いでんせいかんしつせいはいえん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200207", "id": "NANDO:2200207", "label_ja": "特発性肺ヘモジデローシス", "label_en": "Idiopathic pulmonary hemosiderosis", "label_hira": "とくはつせいはいへもじでろーしす", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200211", "id": "NANDO:2200211", "label_ja": "先天性嚢胞性肺疾患", "label_en": "Congenital cystic lung disease", "label_hira": "せんてんせいのうほうせいはいしっかん", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100206", "id": "NANDO:2100206", "label_ja": "免疫調節障害", "label_en": "Disease of immune dysregulation", "label_hira": "めんえきちょうせつしょうがい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100219", "id": "NANDO:2100219", "label_ja": "レット症候群", "label_en": "Rett syndrome", "label_hira": "れっとしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100222", "id": "NANDO:2100222", "label_ja": "遺伝子異常による白質脳症", "label_en": "Leukoencephalopathy caused by genetic abnormalities", "label_hira": "いでんしいじょうによるはくしつのうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100223", "id": "NANDO:2100223", "label_ja": "ATR-X症候群", "label_en": "ATR-X syndrome", "label_hira": "えーてぃーあーるえっくすしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100227", "id": "NANDO:2100227", "label_ja": "頭蓋骨縫合早期癒合症", "label_en": "Craniosynostosis", "label_hira": "ずがいこつほうごうそうきゆごうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100228", "id": "NANDO:2100228", "label_ja": "もやもや病", "label_en": "Moyamoya disease", "label_hira": "もやもやびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100241", "id": "NANDO:2100241", "label_ja": "脳の鉄沈着を伴う神経変性疾患", "label_en": "Neurodegeneration with brain iron accumulation", "label_hira": "のうのてつちんちゃくをともなうしんけいへんせいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100251", "id": "NANDO:2100251", "label_ja": "慢性炎症性脱髄性多発神経炎", "label_en": "Chronic inflammatory demyelinating polyneuropathy", "label_hira": "まんせいえんしょうせいだつずいせいたはつしんけいえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100268", "id": "NANDO:2100268", "label_ja": "肝硬変症", "label_en": "Liver cirrhosis", "label_hira": "かんこうへんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100283", "id": "NANDO:2100283", "label_ja": "先天性魚鱗癬", "label_en": "Congenital ichthyosis", "label_hira": "せんてんせいぎょりんせん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100302", "id": "NANDO:2100302", "label_ja": "ビタミンB6依存性てんかん", "label_en": "Vitamine B6-dependent epilepsy", "label_hira": "びたみんびー6いぞんせいてんかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200100", "id": "NANDO:2200100", "label_ja": "obsolete 中枢神経系原始神経外胚葉性腫瘍", "label_en": "obsolete Primitive neuroectodermal tumour of the central nervous system", "label_hira": "ちゅうすうしんけいけいげんししんけいがいはいようせいしゅよう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200229", "id": "NANDO:2200229", "label_ja": "肥大型心筋症", "label_en": "Hypertrophic cardiomyopathy", "label_hira": "ひだいがたしんきんしょう", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200247", "id": "NANDO:2200247", "label_ja": "狭心症", "label_en": "Angina pectoris", "label_hira": "きょうしんしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200263", "id": "NANDO:2200263", "label_ja": "三心房心", "label_en": "Cor triatriatum", "label_hira": "さんしんぼうしん", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200280", "id": "NANDO:2200280", "label_ja": "肺動脈弁欠損", "label_en": "Absent pulmonary valve", "label_hira": "はいどうみゃくべんけっそん", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200294", "id": "NANDO:2200294", "label_ja": "大動脈瘤", "label_en": "Aortic aneurysm", "label_hira": "だいどうみゃくりゅう", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200296", "id": "NANDO:2200296", "label_ja": "冠動脈瘻", "label_en": "Coronary artery fistula", "label_hira": "かんどうみゃくろう", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200303", "id": "NANDO:2200303", "label_ja": "僧帽弁閉鎖不全症", "label_en": "Mitral regurgitation", "label_hira": "そうぼうべんへいさふぜんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200309", "id": "NANDO:2200309", "label_ja": "無脾症候群", "label_en": "Asplenia syndrome", "label_hira": "むひしょうこうぐん", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200311", "id": "NANDO:2200311", "label_ja": "フォンタン術後症候群", "label_en": "Post-Fontan syndrome", "label_hira": "ふぉんたんじゅつごしょうこうぐん", "notification_number": "90", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200327", "id": "NANDO:2200327", "label_ja": "中枢性塩喪失症候群", "label_en": "Cerebral salt wasting syndrome", "label_hira": "ちゅうすうせいえんそうしつしょうこうぐん", "notification_number": "67", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200330", "id": "NANDO:2200330", "label_ja": "異所性甲状腺", "label_en": "Ectoic thyroid", "label_hira": "いしょせいこうじょうせん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200338", "id": "NANDO:2200338", "label_ja": "放射線性甲状腺機能低下症", "label_en": "Radiation-induced hypothyroidism", "label_hira": "ほうしゃせんせいこうじょうせんきのうていかしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200358", "id": "NANDO:2200358", "label_ja": "グルココルチコイド抵抗症", "label_en": "Glucocorticoid resistance", "label_hira": "ぐるここるちこいどていこうしょう", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200396", "id": "NANDO:2200396", "label_ja": "カルチノイド症候群", "label_en": "Carcinoid syndrome", "label_hira": "かるちのいどしょうこうぐん", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200398", "id": "NANDO:2200398", "label_ja": "インスリノーマ", "label_en": "Insulinoma", "label_hira": "いんすりのーま", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200401", "id": "NANDO:2200401", "label_ja": "ビタミンD依存性くる病", "label_en": "Vitamin D-dependent rickets", "label_hira": "びたみんでぃーいぞんせいくるびょう", "notification_number": "76", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200406", "id": "NANDO:2200406", "label_ja": "多発性内分泌腫瘍2型", "label_en": "Multiple endocrine neoplasia type 2", "label_hira": "たはつせいないぶんぴつしゅよう2がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200423", "id": "NANDO:2200423", "label_ja": "高安動脈炎", "label_en": "Takayasu arteritis", "label_hira": "たかやすどうみゃくえん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200436", "id": "NANDO:2200436", "label_ja": "高IgD症候群", "label_en": "Hyper IgD syndrome", "label_hira": "こうあいじーでぃーしょうこうぐん", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200441", "id": "NANDO:2200441", "label_ja": "ADA2欠損症", "label_en": "Adenosine deaminase 2 deficiency", "label_hira": "えーでぃーえー2けっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200446", "id": "NANDO:2200446", "label_ja": "IL10欠損症", "label_en": "IL10 deficiency", "label_hira": "あいえる10けっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200450", "id": "NANDO:2200450", "label_ja": "DADA2", "label_en": "Deficiency of the enzyme ADA2", "label_hira": "でぃーえーでぃーえー2", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200452", "id": "NANDO:2200452", "label_ja": "IL36RN欠損症", "label_en": "IL36RN deficiency", "label_hira": "あいえる36あーるえぬけっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200455", "id": "NANDO:2200455", "label_ja": "フォスフォリパーゼCγ2関連抗体欠損免疫異常症", "label_en": "PLCG2-associated antibody deficiency and immune dysregulation", "label_hira": "ふぉすふぉりぱーぜしーがんま2かんれんこうたいけっそんめんえきいじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200468", "id": "NANDO:2200468", "label_ja": "高チロシン血症1型", "label_en": "Tyrosinemia type 1", "label_hira": "こうちろしんけっしょう1がた", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200489", "id": "NANDO:2200489", "label_ja": "シスチン尿症", "label_en": "Cystinuria", "label_hira": "しすちんにょうしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200491", "id": "NANDO:2200491", "label_ja": "メチルマロン酸血症", "label_en": "Methylmalonic acidemia", "label_hira": "めちるまろんさんけっしょう", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200521", "id": "NANDO:2200521", "label_ja": "スクシニル-CoAリガーゼ欠損症", "label_en": "Succinyl-CoA ligase deficiency", "label_hira": "すくしにるこえーりがーぜけっそんしょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200529", "id": "NANDO:2200529", "label_ja": "カーンズ・セイヤー症候群", "label_en": "Kearns-Sayre syndrome", "label_hira": "かーんず・せいやーしょうこうぐん", "notification_number": "90", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200541", "id": "NANDO:2200541", "label_ja": "糖原病V型", "label_en": "Glycogen storage disease type V", "label_hira": "とうげんびょう5がた", "notification_number": "66", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200567", "id": "NANDO:2200567", "label_ja": "ムコリピドーシスII型", "label_en": "Mucolipidosis II", "label_hira": "むこりぴどーしす2がた", "notification_number": "135", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200571", "id": "NANDO:2200571", "label_ja": "シスチン症", "label_en": "Cystinosis", "label_hira": "しすちんしょう", "notification_number": "120", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200585", "id": "NANDO:2200585", "label_ja": "107から112までに掲げるもののほか、金属代謝異常症", "label_en": "Other disorders of metal metabolism", "label_hira": "107から112までにかかげるもののほか、きんぞくたいしゃいじょうしょう", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200592", "id": "NANDO:2200592", "label_ja": "先天性葉酸吸収不全症", "label_en": "Hereditary folate malabsorption", "label_hira": "せんてんせいようさんきゅうしゅうふぜんしょう", "notification_number": "73", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200597", "id": "NANDO:2200597", "label_ja": "ドーパミンβ-水酸化酵素欠損症", "label_en": "Dopamine beta hydroxylase deficiency", "label_hira": "どーぱみんべーたすいさんかこうそけっそんしょう", "notification_number": "53", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200601", "id": "NANDO:2200601", "label_ja": "原発性高カイロミクロン血症", "label_en": "Primary hyperchylomicronemia", "label_hira": "げんぱつせいこうかいろみくろんけっしょう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200609", "id": "NANDO:2200609", "label_ja": "135及び136に掲げるもののほか、結合組織異常症", "label_en": "Other connective tissue disorder", "label_hira": "135および136にかかげるもののほか、けつごうそしきいじょうしょう", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200635", "id": "NANDO:2200635", "label_ja": "ヘモグロビンC症", "label_en": "Hemoglobin C disease", "label_hira": "へもぐろびんしーしょう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200643", "id": "NANDO:2200643", "label_ja": "真性多血症", "label_en": "Polycythemia vera", "label_hira": "しんせいたけつしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200649", "id": "NANDO:2200649", "label_ja": "血栓性血小板減少性紫斑病", "label_en": "Thrombotic thrombocytopenic purpura", "label_hira": "けっせんせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200659", "id": "NANDO:2200659", "label_ja": "32から34までに掲げるもののほか、血小板機能異常症", "label_en": "Other platelet dysfunction", "label_hira": "32から34までにかかげるもののほか、けっしょうばんきのういじょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200670", "id": "NANDO:2200670", "label_ja": "コラーゲン受容体異常症", "label_en": "Abnormalities in platelet collagen receptors", "label_hira": "こらーげんじゅようたいいじょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200674", "id": "NANDO:2200674", "label_ja": "第V因子欠乏症", "label_en": "Factor V deficiency", "label_hira": "だい5いんしけつぼうしょう", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200679", "id": "NANDO:2200679", "label_ja": "第XI因子欠乏症", "label_en": "Factor XI deficiency", "label_hira": "だい11いんしけつぼうしょう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200694", "id": "NANDO:2200694", "label_ja": "X連鎖重症複合免疫不全症", "label_en": "X-linked severe combined immunodeficiency", "label_hira": "えっくすれんさじゅうしょうふくごうめんえきふぜんしょう", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200704", "id": "NANDO:2200704", "label_ja": "ウィスコット・オルドリッチ症候群", "label_en": "Wiskott-Aldrich syndrome", "label_hira": "うぃすこっと・おるどりっちしょうこうぐん", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200710", "id": "NANDO:2200710", "label_ja": "RIDDLE症候群", "label_en": "RIDDLE syndrome", "label_hira": "りどるしょうこうぐん", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200723", "id": "NANDO:2200723", "label_ja": "23から29までに掲げるもののほか、液性免疫不全を主とする疾患", "label_en": "Other predominantly antibody deficiencies", "label_hira": "23から29までにかかげるもののほか、えきせいめんえきふぜんをしゅとするしっかん", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200732", "id": "NANDO:2200732", "label_ja": "Griscelli症候群2型", "label_en": "Griscelli syndrome type 2", "label_hira": "ぐりせりしょうこうぐん2がた", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200742", "id": "NANDO:2200742", "label_ja": "CARD11機能獲得型変異", "label_en": "CARD11 gain-of-function mutations", "label_hira": "しーえーあーるでぃー11きのうかくとくがたへんい", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200746", "id": "NANDO:2200746", "label_ja": "周期性好中球減少症", "label_en": "Cyclic neutropenia", "label_hira": "しゅうきせいこうちゅうきゅうげんしょうしょう", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200749", "id": "NANDO:2200749", "label_ja": "好中球減少を伴うClericuzio型多形皮膚萎縮症", "label_en": "Clericuzio-type poikiloderma with neutropenia syndrome", "label_hira": "こうちゅうきゅうげんしょうをともなうくれりっくじおがたたけいひふいしゅくしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200752", "id": "NANDO:2200752", "label_ja": "P14欠損症", "label_en": "P14 deficiency", "label_hira": "ぴー14けっそんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200762", "id": "NANDO:2200762", "label_ja": "IRAK4欠損症", "label_en": "IRAK4 deficiency", "label_hira": "あいらっく4けっそんしょう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200779", "id": "NANDO:2200779", "label_ja": "C1s 欠損症", "label_en": "C1s deficiency", "label_hira": "しー1えすけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200780", "id": "NANDO:2200780", "label_ja": "C4 欠損症", "label_en": "C4 deficiency", "label_hira": "しー4けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200783", "id": "NANDO:2200783", "label_ja": "C5 欠損症", "label_en": "C5 deficiency", "label_hira": "しー5けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200799", "id": "NANDO:2200799", "label_ja": "Factor H-related protein欠損症", "label_en": "Complement factor H related protein 1 deficiency", "label_hira": "ふぁくたーえいちりれいてぃっどぷろていんけっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200820", "id": "NANDO:2200820", "label_ja": "中隔視神経形成異常症", "label_en": "Septo-optic dysplasia", "label_hira": "ちゅうかくししんけいけいせいいじょうしょう", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200837", "id": "NANDO:2200837", "label_ja": "皮質下嚢胞をもつ大頭型白質脳症", "label_en": "Megaloencephalic leukoencephalopathy with subcortical cysts", "label_hira": "ひしつかのうほうをもつだいとうがたはくしつのうしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200838", "id": "NANDO:2200838", "label_ja": "白質消失症", "label_en": "Vanishing white matter disease", "label_hira": "はくしつしょうしつびょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200850", "id": "NANDO:2200850", "label_ja": "もやもや病", "label_en": "Moyamoya disease", "label_hira": "もやもやびょう", "notification_number": "103", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200852", "id": "NANDO:2200852", "label_ja": "海綿状血管腫（脳脊髄）", "label_en": "Cavernous angioma of the brain and spinal cord", "label_hira": "かいめんじょうけっかんしゅ（のうせきずい）", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200861", "id": "NANDO:2200861", "label_ja": "メロシン欠損型先天性筋ジストロフィー", "label_en": "Merosin-deficient congenital muscular dystrophy", "label_hira": "めろしんけっそんがたせんてんせいきんじすとろふぃー", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200873", "id": "NANDO:2200873", "label_ja": "56から61までに掲げるもののほか、先天性ミオパチー", "label_en": "Other congenital structural myopathy", "label_hira": "56から61までにかかげるもののほか、せんてんせいみおぱちー", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200875", "id": "NANDO:2200875", "label_ja": "還元小体ミオパチー", "label_en": "Reducing body myopathy", "label_hira": "かんげんしょうたいみおぱちー", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200878", "id": "NANDO:2200878", "label_ja": "点頭てんかん", "label_en": "West syndrome", "label_hira": "てんとうてんかん", "notification_number": "73", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200884", "id": "NANDO:2200884", "label_ja": "変形性筋ジストニー", "label_en": "Dystonia musculorum deformans", "label_hira": "へんけいせいきんじすとにー", "notification_number": "101", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200895", "id": "NANDO:2200895", "label_ja": "RNASEH2C欠損症", "label_en": "Aicardi-Goutieres syndrome 3", "label_hira": "あーるえぬえーえすいーえいち2しーけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200912", "id": "NANDO:2200912", "label_ja": "リパーゼ欠損症", "label_en": "Lipase deficiency", "label_hira": "りぱーぜけっそんしょう", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200931", "id": "NANDO:2200931", "label_ja": "アラジール症候群", "label_en": "Alagille syndrome", "label_hira": "あらじーるしょうこうぐん", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200949", "id": "NANDO:2200949", "label_ja": "肝巨大血管腫", "label_en": "Giant hepatic hemangiomas", "label_hira": "かんきょだいけっかんしゅ", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200952", "id": "NANDO:2200952", "label_ja": "コフィン・ローリー症候群", "label_en": "Coffin-Lowry syndrome", "label_hira": "こふぃん・ろーりーしょうこうぐん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200967", "id": "NANDO:2200967", "label_ja": "CFC症候群", "label_en": "CFC Syndrome", "label_hira": "しーえふしーしょうこうぐん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200968", "id": "NANDO:2200968", "label_ja": "マルファン症候群", "label_en": "Marfan syndrome", "label_hira": "まるふぁんしょうこうぐん", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200969", "id": "NANDO:2200969", "label_ja": "ロイス・ディーツ症候群", "label_en": "Loeys-Dietz syndrome", "label_hira": "ろいす・でぃーつしょうこうぐん", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200970", "id": "NANDO:2200970", "label_ja": "カムラティ・エンゲルマン症候群", "label_en": "Camurati-Engelmann disease", "label_hira": "かむらてぃ・えんげるまんしょうこうぐん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200997", "id": "NANDO:2200997", "label_ja": "ドルフマン・シャナリン症候群", "label_en": "Dorfman-Chanarin syndrome", "label_hira": "どるふまん・しゃなりんしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201000", "id": "NANDO:2201000", "label_ja": "表皮水疱症", "label_en": "Epidermolysis bullosa", "label_hira": "ひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201016", "id": "NANDO:2201016", "label_ja": "2型コラーゲン異常症関連疾患", "label_en": "Type II collagenopathy", "label_hira": "2がたこらーげんいじょうしょうかんれんしっかん", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201017", "id": "NANDO:2201017", "label_ja": "点状軟骨異形成症", "label_en": "Chondrodysplasia punctata", "label_hira": "てんじょうなんこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201052", "id": "NANDO:2201052", "label_ja": "MEN2A", "label_en": "Multiple endocrine neoplasia type 2A", "label_hira": "えむいーえぬ2えー", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201055", "id": "NANDO:2201055", "label_ja": "若年性特発性関節炎（全身型）", "label_en": "Systemic juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（ぜんしんがた）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201067", "id": "NANDO:2201067", "label_ja": "マックル・ウェルズ症候群", "label_en": "Muckle-Wells syndrome", "label_hira": "まっくる・うぇるずしょうこうぐん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201078", "id": "NANDO:2201078", "label_ja": "古典型メープルシロップ尿症", "label_en": "Classic form maple syrup urine disease", "label_hira": "こてんがためーぷるしろっぷにょうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201100", "id": "NANDO:2201100", "label_ja": "新生児期発症型高アルギニン血症", "label_en": "Neonatal-onset hyperargininemia", "label_hira": "しんせいじきはっしょうがたこうあるぎにんけっしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201111", "id": "NANDO:2201111", "label_ja": "コバラミン代謝異常 cblG", "label_en": "Methylcobalamin deficiency cblG type ", "label_hira": "こばらみんたいしゃいじょう しーびーえるじー", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201132", "id": "NANDO:2201132", "label_ja": "新生児期発症型カルニチンパルミトイルトランスフェラーゼII欠損症", "label_en": "Neonatal-onset carnitine palmitoyltransferase II deficiency", "label_hira": "しんせいじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201140", "id": "NANDO:2201140", "label_ja": "新生児期発症型極長鎖アシルCoA脱水素酵素欠損症", "label_en": "Neonatal-onset very-long-chain acyl-CoA dehydrogenase deficiency", "label_hira": "しんせいじきはっしょうがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201161", "id": "NANDO:2201161", "label_ja": "致死性神経・筋型糖原病IV型", "label_en": "Glycogen storage disease type IV, fatal neuromuscular form", "label_hira": "ちしせいしんけい・きんがたとうげんびょう4がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201172", "id": "NANDO:2201172", "label_ja": "中間型ムコ多糖症II型", "label_en": "Mucopolysaccharidosis type II, intermediate form", "label_hira": "ちゅうかんがたむこたとうしょう2がた", "notification_number": "130", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200024", "id": "NANDO:1200024", "label_ja": "再発寛解型多発性硬化症", "label_en": "Relapsing-remitting multiple sclerosis", "label_hira": "さいはつかんかいがたたはつせいこうかしょう", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200042", "id": "NANDO:1200042", "label_ja": "脊髄小脳失調症6型", "label_en": "Spinocerebellar ataxia type 6", "label_hira": "せきずいしょうのうしっちょうしょう6がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200043", "id": "NANDO:1200043", "label_ja": "歯状核赤核淡蒼球ルイ体萎縮症", "label_en": "Dentatorubropallidoluysian atrophy", "label_hira": "しじょうかくせきかくたんそうきゅうるいたいいしゅくしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200054", "id": "NANDO:1200054", "label_ja": "痙性対麻痺（複合型）", "label_en": "Complex hereditary spastic paraplegia", "label_hira": "けいせいついまひ（ふくごうがた）", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200056", "id": "NANDO:1200056", "label_ja": "ゴーシェ病", "label_en": "Gaucher disease", "label_hira": "ごーしぇびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200064", "id": "NANDO:1200064", "label_ja": "乳児型ニーマン・ピック病C型", "label_en": "Infantile-onset Niemann-Pick disease type C", "label_hira": "にゅうじがたにーまん・ぴっくびょうしーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200075", "id": "NANDO:1200075", "label_ja": "乳児型クラッベ病", "label_en": "Infantile Krabbe disease", "label_hira": "にゅうじがたくらっべびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200080", "id": "NANDO:1200080", "label_ja": "若年型異染性白質ジストロフィー", "label_en": "Juvenile ｍetachromatic leukodystrophy", "label_hira": "じゃくねんがたいせんせいはくしつじすとろふぃー", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200103", "id": "NANDO:1200103", "label_ja": "サンフィリッポ症候群C型", "label_en": "Sanfilippo disease type C", "label_hira": "さんふぃりっぽしょうこうぐんしーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200109", "id": "NANDO:1200109", "label_ja": "マロトー・ラミー症候群（重症型）", "label_en": "Maroteaux Lamy syndrome, rapidly progressing form", "label_hira": "まろとーらみーしょうこうぐん（じゅうしょうがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200115", "id": "NANDO:1200115", "label_ja": "ヒアルロニダーゼ欠損症", "label_en": "Hyaluronidase deficiency", "label_hira": "ひあるろにだーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200120", "id": "NANDO:1200120", "label_ja": "新生児及び早期乳児型ガラクトシアリドーシス", "label_en": "Galactosialidosis, early infantile form", "label_hira": "しんせいじおよびそうきにゅうじがたがらくとしありどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200123", "id": "NANDO:1200123", "label_ja": "ムコリピドーシスII型,III型", "label_en": "Mucolipidosis II, III", "label_hira": "むこりぴどーしす2がた,3がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200147", "id": "NANDO:1200147", "label_ja": "乳児型遊離シアル酸蓄積症", "label_en": "Infantile free sialic acid storage disease", "label_hira": "にゅうじがたゆうりしあるさんちくせきしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200157", "id": "NANDO:1200157", "label_ja": "ファブリー病", "label_en": "Fabry disease", "label_hira": "ふぁぶりーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200170", "id": "NANDO:1200170", "label_ja": "小脳・脳幹型副腎白質ジストロフィー", "label_en": "Atypical X-linked adult adrenoleukodystrophy", "label_hira": "しょうのう・のうかんがたふくじんはくしつじすとろふぃー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200185", "id": "NANDO:1200185", "label_ja": "もやもや病（片側型）", "label_en": "Unilateral moyamoya disease", "label_hira": "もやもやびょう（かたがわがた）", "notification_number": "22", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200226", "id": "NANDO:1200226", "label_ja": "神経線維腫症I型", "label_en": "Neurofibromatosis type 1", "label_hira": "しんけいせんいしゅしょう1がた", "notification_number": "34", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200230", "id": "NANDO:1200230", "label_ja": "落葉状天疱瘡", "label_en": "Pemphigus foliaceus", "label_hira": "らくようじょうてんぽうそう", "notification_number": "35", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200247", "id": "NANDO:1200247", "label_ja": "中毒性表皮壊死症（SJS進展型）", "label_en": "Toxic epidermal necrolysis with spots", "label_hira": "ちゅうどくせいひょうひえししょう（えすじぇいえすしんてんがた）", "notification_number": "39", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200267", "id": "NANDO:1200267", "label_ja": "原発性抗リン脂質抗体症候群", "label_en": "Primary antiphospholipid antibody syndrome", "label_hira": "げんぱつせいこうりんししつこうたいしょうこうぐん", "notification_number": "48", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200286", "id": "NANDO:1200286", "label_ja": "肥大型心筋症", "label_en": "Hypertrophic cardiomyopathy", "label_hira": "ひだいがたしんきんしょう", "notification_number": "58", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200295", "id": "NANDO:1200295", "label_ja": "再生不良性貧血", "label_en": "Aplastic anemia", "label_hira": "さいせいふりょうせいひんけつ", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200302", "id": "NANDO:1200302", "label_ja": "先天性再生不良性貧血", "label_en": "Congenital aplastic anemia", "label_hira": "せんてんせいさいせいふりょうせいひんけつ", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200178", "id": "NANDO:1200178", "label_ja": "obsolete レーバー病", "label_en": "obsolete Leber disease", "label_hira": "れーばーびょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200315", "id": "NANDO:1200315", "label_ja": "免疫性血小板減少症", "label_en": "Immune thrombocytopenia", "label_hira": "めんえきせいけっしょうばんげんしょうしょう", "notification_number": "63", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200317", "id": "NANDO:1200317", "label_ja": "先天性血栓性血小板減少性紫斑病", "label_en": "Congenital thrombotic thrombocytopenic purpura", "label_hira": "せんてんせいけっせんせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "64", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200320", "id": "NANDO:1200320", "label_ja": "原発性免疫不全症候群", "label_en": "Primary immunodeficiency syndrome", "label_hira": "げんぱつせいめんえきふぜんしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200338", "id": "NANDO:1200338", "label_ja": "ネザートン症候群", "label_en": "Netherton syndrome", "label_hira": "ねざーとんしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200341", "id": "NANDO:1200341", "label_ja": "肝中心静脈閉鎖症を伴う免疫不全症", "label_en": "Hepatic veno-occlusive disease with immunodeficiency", "label_hira": "かんちゅうしんじょうみゃくへいさしょうをともなうめんえきふぜんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200364", "id": "NANDO:1200364", "label_ja": "先天性補体欠損症", "label_en": "Inherited deficiency of complement system", "label_hira": "せんてんせいほたいけっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200373", "id": "NANDO:1200373", "label_ja": "特発性大腿骨頭壊死症", "label_en": "Idiopathic osteonecrosis of femoral head", "label_hira": "とくはつせいだいたいこつとうえししょう", "notification_number": "71", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200401", "id": "NANDO:1200401", "label_ja": "17α−水酸化酵素欠損症", "label_en": "17-α-Hydroxylase deficiency", "label_hira": "17あるふぁすいさんかこうそけっそんしょう", "notification_number": "81", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200402", "id": "NANDO:1200402", "label_ja": "P450酸化還元酵素欠損症", "label_en": "P450 oxidoreductase deficiency", "label_hira": "ぴー450さんかかんげんこうそけっそんしょう", "notification_number": "81", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200403", "id": "NANDO:1200403", "label_ja": "先天性副腎低形成症", "label_en": "Congenital adrenal hypoplasia", "label_hira": "せんてんせいふくじんていけいせいしょう", "notification_number": "82", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200410", "id": "NANDO:1200410", "label_ja": "Allgrove症候群", "label_en": "Allgrove syndrome", "label_hira": "おーるぐろーぶしょうこうぐん", "notification_number": "237", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200421", "id": "NANDO:1200421", "label_ja": "特発性器質化肺炎", "label_en": "Cryptogenic organizing pneumonia", "label_hira": "とくはつせいきしつかはいえん", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200429", "id": "NANDO:1200429", "label_ja": "慢性血栓塞栓性肺高血圧症", "label_en": "Chronic thromboembolic pulmonary hypertension", "label_hira": "まんせいけっせんそくせんせいはいこうけつあつしょう", "notification_number": "88", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200443", "id": "NANDO:1200443", "label_ja": "自己免疫性肝炎（非典型例）", "label_en": "Atypical autoimmune hepatitis", "label_hira": "じこめんえきせいかんえん（ひてんけいれい）", "notification_number": "95", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200447", "id": "NANDO:1200447", "label_ja": "小腸大腸型クローン病", "label_en": "Crohn ileocolitis", "label_hira": "しょうちょうだいちょうがたくろーんびょう", "notification_number": "96", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200451", "id": "NANDO:1200451", "label_ja": "潰瘍性大腸炎（左側大腸炎型）", "label_en": "Left-sided colitis", "label_hira": "かいようせいだいちょうえん（ひだりがわだいちょうえんがた）", "notification_number": "97", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200457", "id": "NANDO:1200457", "label_ja": "好酸球性胃腸炎", "label_en": "Eosinophilic gastroenteritis", "label_hira": "こうさんきゅうせいいちょうえん", "notification_number": "98", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200463", "id": "NANDO:1200463", "label_ja": "コステロ症候群", "label_en": "Costello syndrome", "label_hira": "こすてろしょうこうぐん", "notification_number": "104", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200466", "id": "NANDO:1200466", "label_ja": "家族性寒冷蕁麻疹", "label_en": "Familial cold autoinflammatorysyndrome", "label_hira": "かぞくせいかんれいじんましん", "notification_number": "106", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200503", "id": "NANDO:1200503", "label_ja": "遺伝性低カリウム性周期性四肢麻痺", "label_en": "Hereditary hypokalemic periodic paralysis", "label_hira": "いでんせいていかりうむせいしゅうきせいししまひ", "notification_number": "115", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200506", "id": "NANDO:1200506", "label_ja": "脊髄空洞症", "label_en": "Syringomyelia", "label_hira": "せきずいくうどうしょう", "notification_number": "117", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200511", "id": "NANDO:1200511", "label_ja": "遺伝性ジストニア", "label_en": "Hereditary dystonia", "label_hira": "いでんせいじすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200512", "id": "NANDO:1200512", "label_ja": "DYT1ジストニア", "label_en": "Dystonia 1", "label_hira": "でぃーわいてぃー1じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200539", "id": "NANDO:1200539", "label_ja": "脳内鉄沈着神経変性症3型", "label_en": "Neurodegeneration with brain iron accumulation type 3", "label_hira": "のうないてつちんちゃくしんけいへんせいしょうさんがた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200542", "id": "NANDO:1200542", "label_ja": "脳内鉄沈着神経変性症", "label_en": "Neurodegeneration with brain iron accumulation", "label_hira": "のうないてつちんちゃくしんけいへんせいしょう", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200544", "id": "NANDO:1200544", "label_ja": "HTRA1関連脳小血管病", "label_en": "HTRA1-Related Cerebral Small Vessel Disease", "label_hira": "はとらわんかんれんのうしょうけっかんびょう", "notification_number": "123", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200548", "id": "NANDO:1200548", "label_ja": "前頭側頭葉変性症", "label_en": "Frontotemporal lobar degeneration", "label_hira": "ぜんとうそくとうようへんせいしょう", "notification_number": "127", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200578", "id": "NANDO:1200578", "label_ja": "基底核および小脳萎縮を伴う髄鞘形成不全症", "label_en": "Hypomyelination with atrophy of the basal ganglia and cerebellum", "label_hira": "きていかくおよびしょうのういしゅくをともなうずいしょうけいせいふぜんしょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200592", "id": "NANDO:1200592", "label_ja": "ウエスト症候群", "label_en": "West syndrome", "label_hira": "うえすとしょうこうぐん", "notification_number": "145", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200604", "id": "NANDO:1200604", "label_ja": "典型的レット症候群", "label_en": "Typical Rett syndrome", "label_hira": "てんけいてきれっとしょうこうぐん", "notification_number": "156", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200605", "id": "NANDO:1200605", "label_ja": "非典型的レット症候群", "label_en": "Atypical Rett syndrome", "label_hira": "ひてんけいてきれっとしょうこうぐん", "notification_number": "156", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200608", "id": "NANDO:1200608", "label_ja": "色素性乾皮症", "label_en": "Xeroderma pigmentosum", "label_hira": "しきそせいかんぴしょう", "notification_number": "159", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200621", "id": "NANDO:1200621", "label_ja": "KID症候群", "label_en": "Keratitis-ichthyosis-deafness syndrome", "label_hira": "けーあいでぃーしょうこうぐん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200628", "id": "NANDO:1200628", "label_ja": "毛包性魚鱗癬", "label_en": "Ichthyosis follicularis", "label_hira": "もうほうせいぎょりんせん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200538", "id": "NANDO:1200538", "label_ja": "obsolete NBIA2b", "label_en": "obosolete Neurodegeneration with brain iron accumulation type 2B", "label_hira": "えぬびーあいえー2びー", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200639", "id": "NANDO:1200639", "label_ja": "obsolete チェディアック・東症候群", "label_en": "obsolete Chédiak-Higashi syndrome", "label_hira": "ちぇでぃあっく・ひがししょうこうぐん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200657", "id": "NANDO:1200657", "label_ja": "VATER症候群", "label_en": "VATER syndrome", "label_hira": "ばーたーしょうこうぐん／ふぁーたーしょうこうぐん", "notification_number": "173", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200658", "id": "NANDO:1200658", "label_ja": "那須・ハコラ病", "label_en": "Nasu-Hakola disease", "label_hira": "なす・はこらびょう", "notification_number": "174", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200664", "id": "NANDO:1200664", "label_ja": "ウィリアムズ症候群", "label_en": "Williams syndrome", "label_hira": "うぃりあむずしょうこうぐん", "notification_number": "179", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200669", "id": "NANDO:1200669", "label_ja": "アントレー・ビクスラー症候群", "label_en": "Antley-Bixler syndrome", "label_hira": "あんとれー・びくすらーしょうこうぐん", "notification_number": "184", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200671", "id": "NANDO:1200671", "label_ja": "ロスムンド・トムソン症候群", "label_en": "Rothmund-Thomson syndrome", "label_hira": "ろすむんど・とむそんしょうこうぐん", "notification_number": "186", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200679", "id": "NANDO:1200679", "label_ja": "ソトス症候群", "label_en": "Sotos syndrome", "label_hira": "そとすしょうこうぐん", "notification_number": "194", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200688", "id": "NANDO:1200688", "label_ja": "22q11.2欠失症候群", "label_en": "22q11.2 deletion syndrome", "label_hira": "22きゅー11.2けっしつしょうこうぐん", "notification_number": "203", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200711", "id": "NANDO:1200711", "label_ja": "エプスタイン病", "label_en": "Ebstein's anomaly", "label_hira": "えぷすたいんびょう", "notification_number": "217", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200715", "id": "NANDO:1200715", "label_ja": "急速進行性糸球体腎炎（MPO-ANCA陽性）", "label_en": "MPO-ANCA positive rapidly progressive glomerulonephritis", "label_hira": "きゅうそくしんこうせいしきゅうたいじんえん（えむぴーおー-えーえぬしーえーようせい）", "notification_number": "220", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200745", "id": "NANDO:1200745", "label_ja": "閉塞性細気管支炎", "label_en": "Bronchiolitis obliterans", "label_hira": "へいそくせいさいきかんしえん", "notification_number": "228", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200747", "id": "NANDO:1200747", "label_ja": "自己免疫性肺胞蛋白症", "label_en": "Autoimmune pulmonary alveolar proteinosis", "label_hira": "じこめんえきせいはいほうたんぱくしょう", "notification_number": "229", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200753", "id": "NANDO:1200753", "label_ja": "先天性中枢性低換気症候群", "label_en": "Congenital central hypoventilation syndrome", "label_hira": "せんてんせいちゅうすうせいていかんきしょうこうぐん", "notification_number": "230", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200775", "id": "NANDO:1200775", "label_ja": "副甲状腺機能低下症", "label_en": "Hypoparathyroidism", "label_hira": "ふくこうじょうせんきのうていかしょう", "notification_number": "235", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200784", "id": "NANDO:1200784", "label_ja": "フェニルケトン尿症", "label_en": "Phenylketonuria", "label_hira": "ふぇにるけとんにょうしょう", "notification_number": "240", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200785", "id": "NANDO:1200785", "label_ja": "フェニルアラニン水酸化酵素欠損症", "label_en": "Phenylalanine hydroxylase deficiency", "label_hira": "ふぇにるあらにんすいさんかこうそけっそんしょう", "notification_number": "240", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200797", "id": "NANDO:1200797", "label_ja": "コバラミン代謝異常 cblD", "label_en": "Methylmalonic acidemia CblD type", "label_hira": "こばらみんたいしゃいじょう しーびーえるでぃー", "notification_number": "246", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200799", "id": "NANDO:1200799", "label_ja": "グルコーストランスポーター1欠損症", "label_en": "Glucose transporter 1 deficiency", "label_hira": "ぐるこーすとらんすぽーたー1けっそんしょう", "notification_number": "248", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200814", "id": "NANDO:1200814", "label_ja": "異型ポルフィリン症", "label_en": "Variegate porphyria", "label_hira": "いけいぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200826", "id": "NANDO:1200826", "label_ja": "筋型糖原病III型", "label_en": "Glycogen storage diseases type III", "label_hira": "きんがたとうげんびょう3がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200838", "id": "NANDO:1200838", "label_ja": "肝型糖原病", "label_en": "Hepatic glycogen storage disease", "label_hira": "かんがたとうげんびょう", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200862", "id": "NANDO:1200862", "label_ja": "後天性部分性脂肪萎縮症", "label_en": "Acquired partial lipodystrophy", "label_hira": "こうてんせいぶぶんせいしぼういしゅくしょう", "notification_number": "265", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200875", "id": "NANDO:1200875", "label_ja": "タナトフォリック骨異形成症1型", "label_en": "Thanatophoric dysplasia type 1", "label_hira": "たなとふぉりっくこついけいせいしょう1がた", "notification_number": "275", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200906", "id": "NANDO:1200906", "label_ja": "左右結腸型ヒルシュスプルング病", "label_en": "Long-segment Hirschsprung's disease", "label_hira": "さゆうけっちょうがたひるしゅすぷるんぐびょう", "notification_number": "291", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200927", "id": "NANDO:1200927", "label_ja": "限局型自己免疫性膵炎", "label_en": "Focal-type autoimmune pancreatitis", "label_hira": "げんきょくがたじこめんえきせいすいえん", "notification_number": "300", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200933", "id": "NANDO:1200933", "label_ja": "Stargardt病", "label_en": "Stargardt disease", "label_hira": "すたーがるどびょう", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200942", "id": "NANDO:1200942", "label_ja": "アッシャー症候群1型", "label_en": "Usher syndrome type I", 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"メチルグルタコン酸尿症II型", "label_en": "3-methylglutaconicaciduria type II", "label_hira": "めちるぐるたこんさんにょうしょう2がた", "notification_number": "324", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201003", "id": "NANDO:1201003", "label_ja": "先天性気管狭窄症", "label_en": "Congenital tracheal stenosis", "label_hira": "せんてんせいきかんきょうさくしょう", "notification_number": "330", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201015", "id": "NANDO:1201015", "label_ja": "血管型ベーチェット病", "label_en": "Vascular Behçet's Disease", "label_hira": "けっかんがたべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201016", "id": "NANDO:1201016", "label_ja": "腸管型ベーチェット病", "label_en": "Intestinal Behçet's Disease", "label_hira": "ちょうかんがたべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201017", "id": "NANDO:1201017", "label_ja": "神経ベーチェット病", "label_en": "Neuro-Behçet's Disease", "label_hira": "しんけいべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201059", "id": "NANDO:1201059", "label_ja": "バレー・ジェロルド症候群", "label_en": "Baller-Gerold syndrome", "label_hira": "ばれー・じぇろるどしょうこうぐん", "notification_number": "186", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201068", "id": "NANDO:1201068", "label_ja": "無脳回", "label_en": "Agyria", "label_hira": "むのうかい", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201073", "id": "NANDO:1201073", "label_ja": "裂脳症", "label_en": "Schizencephaly", "label_hira": "れつのうしょう", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201083", "id": "NANDO:1201083", "label_ja": "ミラー・ディカー症候群", "label_en": "Miller Dieker syndrome", "label_hira": "みらー・でぃがーしょうこうぐん", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100025", "id": "NANDO:2100025", "label_ja": "尿路奇形", "label_en": "Urinary tract malformation", "label_hira": "にょうろきけい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100028", "id": "NANDO:2100028", "label_ja": "ロウ症候群", "label_en": "Lowe syndrome", "label_hira": "ろうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100031", "id": "NANDO:2100031", "label_ja": "気管支喘息", "label_en": "Bronchial asthma", "label_hira": "きかんしぜんそく", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100039", "id": "NANDO:2100039", "label_ja": "閉塞性細気管支炎", "label_en": "Bronchiolitis obliterans", "label_hira": "へいそくせいさいきかんしえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100045", "id": "NANDO:2100045", "label_ja": "完全房室ブロック", "label_en": 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"notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100109", "id": "NANDO:2100109", "label_ja": "内分泌疾患", "label_en": "Endocrine disease", "label_hira": "ないぶんぴつしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100116", "id": "NANDO:2100116", "label_ja": "抗利尿ホルモン不適切分泌症候群", "label_en": "Syndrome of inappropriate secretion of antidiuretic hormone", "label_hira": "こうりにょうほるもんふてきせつぶんぴつしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100121", "id": "NANDO:2100121", "label_ja": "甲状腺ホルモン不応症", "label_en": "Resistance to thyroid hormone", "label_hira": "こうじょうせんほるもんふおうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100138", "id": "NANDO:2100138", "label_ja": "低ゴナドトロピン性性腺機能低下症", "label_en": "Hypogonadotropic hypogonadism", "label_hira": "ていごなどとろぴんせいせいせんきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100140", "id": "NANDO:2100140", "label_ja": "性分化疾患", "label_en": "Disorders of sex development", "label_hira": "せいぶんかしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100142", "id": "NANDO:2100142", "label_ja": "グルカゴノーマ", "label_en": "Glucagonoma", "label_hira": "ぐるかごのーま", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100148", "id": "NANDO:2100148", "label_ja": "多発性内分泌腫瘍", "label_en": "Multiple endocrine neoplasia", "label_hira": "たはつせいないぶんぴつしゅよう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100162", "id": "NANDO:2100162", "label_ja": "脂肪酸代謝異常症", "label_en": "Disorder of fatty-acid metabolism", "label_hira": "しぼうさんたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100168", "id": "NANDO:2100168", "label_ja": "プリンピリミジン代謝異常症", "label_en": "Disorder of purine and pyrimidine metabolism", "label_hira": "ぷりんぴりみじんたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100173", "id": "NANDO:2100173", "label_ja": "先天性ポルフィリン症", "label_en": "Porphyria", "label_hira": "せんてんせいぽるふぃりんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100188", "id": "NANDO:2100188", "label_ja": "血小板減少性紫斑病", "label_en": "Thrombocytopenic purpura", "label_hira": "けっしょうばんげんしょうせいしはんびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100194", "id": "NANDO:2100194", "label_ja": "本態性血小板血症", "label_en": "Essential thrombocythemia", "label_hira": "ほんたいせいけっしょうばんけっしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100307", 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"http://nanbyodata.jp/ontology/NANDO_1201159", "id": "NANDO:1201159", "label_ja": "ロイス・ディーツ症候群", "label_en": "Loeys–Dietz syndrome", "label_hira": "ろいす･でぃーつしょうこうぐん", "notification_number": "167", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201163", "id": "NANDO:1201163", "label_ja": "コケイン症候群I型", "label_en": "Cockayne syndrome type 1", "label_hira": "こけいんしょうこうぐん1がた", "notification_number": "192", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200182", "id": "NANDO:2200182", "label_ja": "異所開口尿管", "label_en": "Ectopic ureteral orifice", "label_hira": "いしょかいこうにょうかん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200184", "id": "NANDO:2200184", "label_ja": "巨大尿管症", "label_en": "Megaureter", "label_hira": "きょだいにょうかんしょう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200206", "id": "NANDO:2200206", "label_ja": "気管支拡張症", 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"notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100248", "id": "NANDO:2100248", "label_ja": "自己免疫介在性脳炎・脳症", "label_en": "Autoimmune encephalitis", "label_hira": "じこめんえきかいざいせいのうえん・のうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100263", "id": "NANDO:2100263", "label_ja": "免疫性肝疾患", "label_en": "immune-mediated liver diseases", "label_hira": "めんえきせいかんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100274", "id": "NANDO:2100274", "label_ja": "短腸症", "label_en": "Short bowel syndrome", "label_hira": "たんちょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100285", "id": "NANDO:2100285", "label_ja": "膿疱性乾癬（汎発型）", "label_en": "Pustular psoriasis", "label_hira": "のうほうせいかんせん（はんぱつがた）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100292", "id": "NANDO:2100292", "label_ja": "胸郭不全症候群", "label_en": "Thoracic insufficiency syndrome", "label_hira": "きょうかくふぜんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200235", "id": "NANDO:2200235", "label_ja": "心内膜線維弾性症", "label_en": "Endocardial fibroelastosis", "label_hira": "しんないまくせんいだんせいしょう", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200243", "id": "NANDO:2200243", "label_ja": "右冠動脈肺動脈起始症", "label_en": "Abnormal origin of right coronary artery from pulmonary artery", "label_hira": "みぎかんどうみゃくはいどうみゃくきししょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200255", "id": "NANDO:2200255", "label_ja": "タウジッヒ・ビング奇形", "label_en": "Taussig-Bing anomaly", "label_hira": "たうじっひ・びんぐきけい", "notification_number": "97", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200289", "id": "NANDO:2200289", "label_ja": "大動脈弓閉塞症", "label_en": "Aortic arch occlusive disease", "label_hira": "だいどうみゃくきゅうへいそくしょう", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200306", "id": "NANDO:2200306", "label_ja": "大動脈弁狭窄症", "label_en": "Aortic valve stenosis", "label_hira": "だいどうみゃくべんきょうさくしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200328", "id": "NANDO:2200328", "label_ja": "バセドウ病", "label_en": "Basedow disease", "label_hira": "ばせどうびょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200335", "id": "NANDO:2200335", "label_ja": "橋本病", "label_en": "Hashimoto disease", "label_hira": "はしもとびょう", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200337", "id": "NANDO:2200337", "label_ja": "21及び22に掲げるもののほか、後天性甲状腺機能低下症", "label_en": "Other acquired hypothyroidism", "label_hira": "21および22にかかげるもののほか、こうてんせいこうじょうせんきのうていかしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200341", "id": "NANDO:2200341", "label_ja": "甲状腺ホルモン不応症", "label_en": "Resistance to thyroid hormone", "label_hira": "こうじょうせんほるもんふおうしょう", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200346", "id": "NANDO:2200346", "label_ja": "自己免疫性多内分泌腺症候群1型", "label_en": "Autoimmune polyendocrinopathy type 1", "label_hira": "じこめんえきせいたないぶんぴつせんしょうこうぐん 1がた", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200351", "id": "NANDO:2200351", "label_ja": "異所性副腎皮質刺激ホルモン産生症候群", "label_en": "Ectopic ACTH syndrome", "label_hira": "いしょせいふくじんひしつしげきほるもんさんせいしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200357", "id": "NANDO:2200357", "label_ja": "先天性副腎低形成症", "label_en": "Congenital adrenal hypoplasia", "label_hira": "せんてんせいふくじんていけいせいしょう", "notification_number": "82", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200368", "id": "NANDO:2200368", "label_ja": "偽性低アルドステロン症I型", "label_en": "Pseudohypoaldosteronism type I", "label_hira": "ぎせいていあるどすてろんしょう1がた", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200373", "id": "NANDO:2200373", "label_ja": "17α-水酸化酵素欠損症", "label_en": "17 alpha-hydroxylase deficiency", "label_hira": "17あるふぁすいさんかこうそけっそんしょう", "notification_number": "58", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200380", "id": "NANDO:2200380", "label_ja": "アンドロゲン過剰症", "label_en": "Hyperandrogenism", "label_hira": "あんどろげんかじょうしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200382", "id": "NANDO:2200382", "label_ja": "低ゴナドトロピン性性腺機能低下症", "label_en": "Hypogonadotropic hypogonadism", "label_hira": "ていごなどとろぴんせいせいせんきのうていかしょう", "notification_number": "72", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200392", "id": "NANDO:2200392", "label_ja": "68から70までに掲げるもののほか、46,XY性分化疾患", "label_en": "Other disorders of sex development of 46,XY", "label_hira": "68から70までにかかげるもののほか、46,えっくすわいせいぶんかしっかん", "notification_number": "50", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200394", "id": "NANDO:2200394", "label_ja": "VIP産生腫瘍", "label_en": "Vipoma", "label_hira": "ぶいあいぴーさんせいしゅよう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200410", "id": "NANDO:2200410", "label_ja": "ターナー症候群", "label_en": "Turner syndrome", "label_hira": "たーなーしょうこうぐん", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200479", "id": "NANDO:2200479", "label_ja": "オルニチントランスカルバミラーゼ欠損症", "label_en": "Ornithine transcarbamylase deficiency", "label_hira": "おるにちんとらんすかるばみらーぜけっそんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200511", "id": "NANDO:2200511", "label_ja": "カルニチン/アシルカルニチントランスロカーゼ欠損症", "label_en": "Carnitine-acylcarnitine translocase deficiency", "label_hira": "かるにちん/あしるかるにちんとらんすろかーぜけっそんしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200514", "id": "NANDO:2200514", "label_ja": "短鎖アシルCoA脱水素酵素欠損症", "label_en": "Short-chain acyl-CoA dehydrogenase deficiency", "label_hira": "たんさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200517", "id": "NANDO:2200517", "label_ja": "40から48までに掲げるもののほか、脂肪酸代謝異常症", "label_en": "Other disorders of fatty-acid metabolism", "label_hira": "40から48までにかかげるもののほか、しぼうさんたいしゃいじょうしょう", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200518", "id": "NANDO:2200518", "label_ja": "ピルビン酸脱水素酵素複合体欠損症", "label_en": "Pyruvate dehydrogenase complex deficiency", "label_hira": "ぴるびんさんだっすいそこうそふくごうたいけっそんしょう", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200524", "id": "NANDO:2200524", "label_ja": "ミトコンドリアDNA突然変異", "label_en": "Diseases due to mitochondrial DNA mutation", "label_hira": "みとこんどりあでぃーえぬえーとつぜんへんい", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200525", "id": "NANDO:2200525", "label_ja": "MELAS", "label_en": "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes)", "label_hira": "めらす", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200533", "id": "NANDO:2200533", "label_ja": "ガラクトキナーゼ欠損症", "label_en": "Galactokinase deficiency", "label_hira": "がらくときなーぜけっそんしょう", "notification_number": "60", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200543", "id": "NANDO:2200543", "label_ja": "糖原病VII型", "label_en": "Glycogen storage disease type VII", "label_hira": "とうげんびょう7がた", "notification_number": "68", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200556", "id": "NANDO:2200556", "label_ja": "シアリドーシス", "label_en": "Sialidosis", "label_hira": "しありどーしす", "notification_number": "117", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200564", "id": "NANDO:2200564", "label_ja": "クラッベ病", "label_en": "Krabbe disease", "label_hira": "くらっべびょう", "notification_number": "114", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200566", "id": "NANDO:2200566", "label_ja": "マルチプルスルファターゼ欠損症", "label_en": "Multiple sulfatase deficiency", "label_hira": "まるちぷるするふぁたーぜけっそんしょう", "notification_number": "127", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200570", "id": "NANDO:2200570", "label_ja": "酸性リパーゼ欠損症", "label_en": "Acid lipase deficiency", "label_hira": "さんせいりぱーぜけっそんしょう", "notification_number": "116", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200579", "id": "NANDO:2200579", "label_ja": "ウィルソン病", "label_en": "Wilson disease", "label_hira": "うぃるそんびょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200608", "id": "NANDO:2200608", "label_ja": "リポイドタンパク症", "label_en": "Lipoid proteinosis", "label_hira": "りぽいどたんぱくしょう", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200618", "id": "NANDO:2200618", "label_ja": "寒冷凝集素症", "label_en": "Cold agglutinin disease", "label_hira": "かんれいぎょうしゅうそしょう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200620", "id": "NANDO:2200620", "label_ja": "7及び8に掲げるもののほか、自己免疫性溶血性貧血", "label_en": "Other autoimmune hemolytic anemia", "label_hira": "7および8にかかげるもののほか、じこめんえきせいようけつせいひんけつ", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200636", "id": "NANDO:2200636", "label_ja": "溶血性貧血（脾機能亢進症によるものに限る。）", "label_en": "Hemolytic anemia", "label_hira": "ようけつせいひんけつ", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200661", "id": "NANDO:2200661", "label_ja": "橈骨欠損を伴う血小板減少症", "label_en": "Thrombocytopenia with absent radii", "label_hira": "とうこつけっそんをともなうけっしょうばんげんしょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200662", "id": "NANDO:2200662", "label_ja": "骨髄悪性腫瘍傾向を伴う家族性血小板減少症", "label_en": "Familial platelet disorder with propensity to myeloid.", "label_hira": "こつずいあくせいしゅようけいこうをともなうかぞくせいけっしょうばんげんしょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200671", "id": "NANDO:2200671", "label_ja": "スコット症候群", "label_en": "Scott syndrome", "label_hira": "すこっとしょうこうぐん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200681", "id": "NANDO:2200681", "label_ja": "第XIII因子欠乏症", "label_en": "Factor XIII deficiency", "label_hira": "だい13いんしけつぼうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200696", "id": "NANDO:2200696", "label_ja": "アデノシンデアミナーゼ欠損症", "label_en": "Adenosine deaminase deficiency", "label_hira": "あでのしんであみなーぜけっそんしょう", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200716", "id": "NANDO:2200716", "label_ja": "X連鎖無ガンマグロブリン血症", "label_en": "X-linked agammaglobulinemia", "label_hira": "えっくすれんさむがんまぐろぶりんけっしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200731", "id": "NANDO:2200731", "label_ja": "STXBP2/Munc18-2欠損症", "label_en": "STXBP2/Munc18-2 deficiency", "label_hira": "えすてぃーえっくすびーぴー2/えむゆーえぬしー18−2けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200734", "id": "NANDO:2200734", "label_ja": "ITK欠損症", "label_en": "IL-2-inducible T-cell kinase deficiency", "label_hira": "あいてぃーけーけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200765", "id": "NANDO:2200765", "label_ja": "44から47までに掲げるもののほか、自然免疫異常", "label_en": "Other defects in innate immunity", "label_hira": "44から47までにかかげるもののほか、しぜんめんえきいじょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200778", "id": "NANDO:2200778", "label_ja": "C1r 欠損症", "label_en": "C1r deficiency", "label_hira": "しー1あーるけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200803", "id": "NANDO:2200803", "label_ja": "CD46欠損症", "label_en": "CD46 deficiency", "label_hira": "しーでぃー46けっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200812", "id": "NANDO:2200812", "label_ja": "慢性移植片対宿主病", "label_en": "Chronic graft-versus-host disease", "label_hira": "まんせいいしょくへんたいしゅくしゅびょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200826", "id": "NANDO:2200826", "label_ja": "結節性硬化症", "label_en": "Tuberous sclerosis complex", "label_hira": "けっせつせいこうかしょう", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200835", "id": "NANDO:2200835", "label_ja": "アレキサンダー病", "label_en": "Alexander disease", "label_hira": "あれきさんだーびょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200867", "id": "NANDO:2200867", "label_ja": "ミオチュブラーミオパチー", "label_en": "Myotubular myopathy", "label_hira": "みおちゅぶらーみおぱちー", "notification_number": "54", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200750", "id": "NANDO:2200750", "label_ja": "obsolete Cohen症候群", "label_en": "obsolete Cohen syndrome", "label_hira": "こーえんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200754", "id": "NANDO:2200754", "label_ja": "obsolete 糖原病Ib型", "label_en": "obsolete Glycogen storage disease type 1b", "label_hira": "とうげんびょう1びーがた", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200898", "id": "NANDO:2200898", "label_ja": "ADAR1欠損症", "label_en": "Aicardi-Goutieres syndrome 6", "label_hira": "えーでぃーえーあーる1けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200902", "id": "NANDO:2200902", "label_ja": "自己免疫介在性脳炎・脳症", "label_en": "Autoimmune encephalitis", "label_hira": "じこめんえきかいざいせいのうえん・のうしょう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200907", "id": "NANDO:2200907", "label_ja": "乳糖不耐症", "label_en": "Lactose intolerance", "label_hira": "にゅうとうふたいしょう", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200933", "id": "NANDO:2200933", "label_ja": "進行性家族性肝内胆汁うっ滞症", "label_en": "Progressive familial intrahepatic cholestasis", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200956", "id": "NANDO:2200956", "label_ja": "歌舞伎症候群", "label_en": "Kabuki syndrome", "label_hira": "かぶきしょうこうぐん", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200963", "id": "NANDO:2200963", "label_ja": "18トリソミー症候群", "label_en": "Trisomy 18", "label_hira": "18とりそみーしょうこうぐん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200973", "id": "NANDO:2200973", "label_ja": "ハーラマン・ストライフ症候群", "label_en": "Hallermann-Streiff syndrome", "label_hira": "はーらまん・すとらいふしょうこうぐん", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200975", "id": "NANDO:2200975", "label_ja": "アントレー・ビクスラー症候群", "label_en": "Antley-Bixler syndrome", "label_hira": "あんとれー・びくすらーしょうこうぐん", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200976", "id": "NANDO:2200976", "label_ja": "ファイファー症候群", "label_en": "Pfeiffer syndrome", "label_hira": "ふぁいふぁーしょうこうぐん", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201032", "id": "NANDO:2201032", "label_ja": "リンパ管腫", "label_en": "Lymphangioma", "label_hira": "りんぱかんしゅ", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201047", "id": "NANDO:2201047", "label_ja": "家族性肺動脈性肺高血圧症", "label_en": "Familial pulmonary arterial hypertension", "label_hira": "かぞくせいはいどうみゃくせいはいこうけつあつしょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201085", "id": "NANDO:2201085", "label_ja": "新生児期発症型N-アセチルグルタミン酸合成酵素欠損症", "label_en": "Neonatal-onset N-acetylglutamate synthetase deficiency", "label_hira": "しんせいじきはっしょうがたえぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201088", "id": "NANDO:2201088", "label_ja": "新生児期発症型カルバミルリン酸合成酵素欠損症", "label_en": "Neonatal-onset carbamoyl phosphate synthetase deficiency", "label_hira": "しんせいじきはっしょうがたかるばみるりんさんごうせいこうそけっそんしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201096", "id": "NANDO:2201096", "label_ja": "発症前型アルギニノコハク酸尿症", "label_en": "Presymptomatic argininosuccinic aciduria", "label_hira": "はっしょうまえがたあるぎにのこはくさんにょうしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201098", "id": "NANDO:2201098", "label_ja": "遅発型アルギニノコハク酸尿症", "label_en": "Late-onset argininosuccinic aciduria", "label_hira": "ちはつがたあるぎにのこはくさんにょうしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201104", "id": "NANDO:2201104", "label_ja": "慢性進行型メチルマロン酸血症", "label_en": "Methylmalonic acidemia, chronic progressive form", "label_hira": "まんせいしんこうがためちるまろんさんけっしょう", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201134", "id": "NANDO:2201134", "label_ja": "遅発型カルニチンパルミトイルトランスフェラーゼII欠損症", "label_en": "Late-onset carnitine palmitoyltransferase II deficiency", "label_hira": "ちはつがたかるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201159", "id": "NANDO:2201159", "label_ja": "肝型糖原病IV型", "label_en": "Glycogen storage disease type IV, hepatic form", "label_hira": "かんがたとうげんびょう4がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201184", "id": "NANDO:2201184", "label_ja": "軽症型ムコ多糖症VII型", "label_en": "Mucopolysaccharidosis type VII, mild form", "label_hira": "けいしょうがたむこたとうしょう7がた", "notification_number": "134", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201186", "id": "NANDO:2201186", "label_ja": "乳児型フコシドーシス", "label_en": "Fucosidosis, infantile form", "label_hira": "にゅうじがたふこしどーしす", "notification_number": "125", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201200", "id": "NANDO:2201200", "label_ja": "サンドホフ病", "label_en": "Sandhoff disease", "label_hira": "さんどほふびょう", "notification_number": "119", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201205", "id": "NANDO:2201205", "label_ja": "サポシンB欠損症", "label_en": "Saposin B deficiency", "label_hira": "さぽしんびーけっそんしょう", "notification_number": "112", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201210", "id": "NANDO:2201210", "label_ja": "ゴーシェ病1型", "label_en": "Gaucher disease type 1", "label_hira": "ごーしぇびょう1がた", "notification_number": "115", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201076", "id": "NANDO:2201076", "label_ja": "obsolete BH4欠損症", "label_en": "obsolete BH4 deficiency", "label_hira": "びーえいち4けっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201235", "id": "NANDO:2201235", "label_ja": "中間型シスチン症", "label_en": "Intermediate cystinosis", "label_hira": "ちゅうかんがたしすちんしょう", "notification_number": "120", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201244", "id": "NANDO:2201244", "label_ja": "成人型神経セロイドリポフスチン症", "label_en": "Adult neuronal ceroid lipofuscinosis", "label_hira": "せいじんがたしんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201249", "id": "NANDO:2201249", "label_ja": "成人大脳型副腎白質ジストロフィー", "label_en": "Adult cerebral adrenoleukodystrophy", "label_hira": "せいじんだいのうがたふくじんはくしつじすとろふぃー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201250", "id": "NANDO:2201250", "label_ja": "小脳・脳幹型副腎白質ジストロフィー", "label_en": "Atypical X-linked adult adrenoleukodystrophy", "label_hira": "しょうのう・のうかんがたふくじんはくしつじすとろふぃー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201286", "id": "NANDO:2201286", "label_ja": "仙尾部奇形腫（Altman III型）", "label_en": "Altman type III sacrococcygeal teratoma", "label_hira": "せんびぶきけいしゅ（あるとまん3がた）", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201294", "id": "NANDO:2201294", "label_ja": "サラ病", "label_en": "Salla disease", "label_hira": "さらびょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201301", "id": "NANDO:2201301", "label_ja": "SLC6A8欠損症", "label_en": "SLC6A8 deficiency", "label_hira": "えすえるしー6えー8けっそんしょう", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201309", "id": "NANDO:2201309", "label_ja": "アペール症候群（人字縫合）", "label_en": "Apert syndrome (lambdoid synostosis)", "label_hira": "あぺーるしょうこうぐん（じんじほうごう）", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201316", "id": "NANDO:2201316", "label_ja": "クルーゾン病（鱗状縫合）", "label_en": "Crouzon disease (squamosal synostosis)", "label_hira": "くるーぞんびょう（りんじょうほうごう）", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201337", "id": "NANDO:2201337", "label_ja": "ファイファー症候群（冠状縫合）", "label_en": "Pfeiffer syndrome (coronal synostosis)", "label_hira": "ふぁいふぁーしょうこうぐん（かんじょうほうごう）", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201343", "id": "NANDO:2201343", "label_ja": "栄養障害型表皮水疱症", "label_en": "Dystrophic epidermolysis bullosa", "label_hira": "えいようしょうがいがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201369", "id": "NANDO:2201369", "label_ja": "硬化性骨症", "label_en": "Sclerosteosis", "label_hira": "こうかせいこつしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201383", "id": "NANDO:2201383", "label_ja": "劣性重症汎発型栄養障害型表皮水疱症", "label_en": "Recessive dystrophic epidermolysis bullosa, generalized severe", "label_hira": "れっせいじゅうしょうはんぱつがたえいようしょうがいがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201411", "id": "NANDO:2201411", "label_ja": "ピリドキサール依存症", "label_en": "Pyridoxal 5'-phosphate-dependent epilepsy", "label_hira": "ぴりどきさーるいぞんしょう", "notification_number": "99", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201416", "id": "NANDO:2201416", "label_ja": "バインブリッジ・ロパース症候群", "label_en": "Bainbridge–Ropers syndrome", "label_hira": "ばいんぶりっじ・ろぱーすしょうこうぐん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201420", "id": "NANDO:2201420", "label_ja": "限局性強皮症", "label_en": "Localized scleroderma/morphea", "label_hira": "げんきょくせいきょうひしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201437", "id": "NANDO:2201437", "label_ja": "進行性家族性肝内胆汁うっ滞症2型", "label_en": "Progressive familial intrahepatic cholestasis type 2", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう2がた", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201439", "id": "NANDO:2201439", "label_ja": "好酸球性食道炎", "label_en": "Eosinophilic esophagitis", "label_hira": "こうさんきゅうせいしょくどうえん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201468", "id": "NANDO:2201468", "label_ja": "一次性シェーグレン症候群", "label_en": "Primary Sjogren's syndrome", "label_hira": "いちじせいしぇーぐれんしょうこうぐん", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201475", "id": "NANDO:2201475", "label_ja": "バッド・キアリ症候群", "label_en": "Budd-Chiari syndrome", "label_hira": "ばっど・きありしょうこうぐん", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201479", "id": "NANDO:2201479", "label_ja": "高カルシウム尿症を伴う遺伝性低リン血性くる病", "label_en": "Hereditary hypophosphatemic rickets with hypercalciuria", "label_hira": "こうかるしうむにょうしょうをともなういでんせいていりんけっせいくるびょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201108", "id": "NANDO:1201108", "label_ja": "PURA関連神経発達異常症", "label_en": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome", "label_hira": "ぴーゆーあーるえーかんれんしんけいはったついじょうしょう", "notification_number": "343", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201110", "id": "NANDO:1201110", "label_ja": "乳児発症 STING 関連血管炎", "label_en": "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "label_hira": "にゅうじはっしょうせいすてぃんぐかんれんけっかんえん", "notification_number": "345", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201492", "id": "NANDO:2201492", "label_ja": "キアリ奇形2型を伴う脊髄空洞症", "label_en": "Syringomyelia associated with type 2 Chiari malformation", "label_hira": "きありきけい2がたをともなうせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201493", "id": "NANDO:2201493", "label_ja": "頭蓋頚椎移行部病変や脊椎において骨・脊髄の奇形を伴い、キアリ（Chiari）奇形を欠く脊髄空洞症", "label_en": "Non-Chiari syringomyelia associated with craniovertebral junction or spinal bony and cord malformations", "label_hira": "ずがいけいついいこうぶびょうへんやせきついにおいてほね・せきずいのきけいをともない、きありきけい を かく せきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201497", "id": "NANDO:2201497", "label_ja": "いずれにも該当しない特発性脊髄空洞症", "label_en": "Idiopathic syringomyelia, unspecified", "label_hira": "いずれにもがいとうしないとっぱつせいせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201504", "id": "NANDO:2201504", "label_ja": "限局性皮質異形成タイプ3a", "label_en": "Focal cortical dysplasia type 3a", "label_hira": "げんきょくせいひしついけいせいたいぷ3えー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201510", "id": "NANDO:2201510", "label_ja": "トムゼン病", "label_en": "Thomsen disease", "label_hira": "とむぜんびょう", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201512", "id": "NANDO:2201512", "label_ja": "先天性パラミオトニー", "label_en": "Paramyotonia congenita", "label_hira": "せんてんせいぱらみおとにー", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201516", "id": "NANDO:2201516", "label_ja": "Andersen-Tawil症候群", "label_en": "Andersen-Tawil syndrome", "label_hira": "あんだーせん・たうぃるしょうこうぐん", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201524", "id": "NANDO:2201524", "label_ja": "シア・ギブス症候群", "label_en": "Xia-Gibbs syndrome", "label_hira": "しあ・ぎぶすしょうこうぐん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201527", "id": "NANDO:2201527", "label_ja": "ロスムンド・トムソン症候群", "label_en": "Rothmund-Thomson syndrome", "label_hira": "ろすむんど・とむそんしょうこうぐん", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100306", "id": "NANDO:2100306", "label_ja": "非ジストロフィー性ミオトニー症候群", "label_en": "Non-dystrophic myotonia", "label_hira": "ひじすとろふぃーせいみおとにーしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200009", "id": "NANDO:1200009", "label_ja": "進行性核上性麻痺", "label_en": "Progressive supranuclear palsy", "label_hira": "しんこうせいかくじょうせいまひ", "notification_number": "5", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200033", "id": "NANDO:1200033", "label_ja": "クロウ・深瀬症候群", "label_en": "Crow-Fukase syndrome", "label_hira": "くろう・ふかせしょうこうぐん", "notification_number": "16", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200036", "id": "NANDO:1200036", "label_ja": "MSA-P", "label_en": "Multiple system atrophy, Parkinsonian type", "label_hira": "えむえすえーぴー", "notification_number": "17", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200051", "id": "NANDO:1200051", "label_ja": "アプラタキシン欠損症", "label_en": "Ataxia-oculomotor apraxia type 1", "label_hira": "あぷらたきしんけっそんしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200073", "id": "NANDO:1200073", "label_ja": "AB型GM2ガングリオシドーシス", "label_en": "GM2 gangliosidosis AB variant", "label_hira": "えーびーがたじーえむ2がんぐりおしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200083", "id": "NANDO:1200083", "label_ja": "マルチプルサルファターゼ欠損症", "label_en": "Multiple sulfatase deficiency", "label_hira": "まるちぷるさるふぁたーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200095", "id": "NANDO:1200095", "label_ja": "シェイエ病", "label_en": "Scheie disease", "label_hira": "しゃいえびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200122", "id": "NANDO:1200122", "label_ja": "若年及び成人型ガラクトシアリドーシス", "label_en": "Galactosialidosis, juvenile/adult form", "label_hira": "じゃくねんおよびせいじんがたがらくとしありどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200135", "id": "NANDO:1200135", "label_ja": "シンドラー病I型", "label_en": "Schindler disease type I", "label_hira": "しんどらーびょう1がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200141", "id": "NANDO:1200141", "label_ja": "成人型ポンペ病", "label_en": "Adult-onset Pompe disease", "label_hira": "せいじんがたぽんぺびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200151", "id": "NANDO:1200151", "label_ja": "先天型神経セロイドリポフスチン症", "label_en": "Congenital neuronal ceroid lipofuscinosis", "label_hira": "せんてんがたしんけいせろいどりぽふすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200152", "id": "NANDO:1200152", "label_ja": "乳児型神経セロイドリポフスチン症", "label_en": "Infantile neuronal ceroid lipofuscinosis", "label_hira": "にゅうじがたしんけいせろいどりぽふすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200153", "id": "NANDO:1200153", "label_ja": "遅発乳児型神経セロイドリポフスチン症", "label_en": "Late infantile neuronal ceroid lipofuscinosis", "label_hira": "ちはつにゅうじがたしんけいせろいどりぽふすちんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200168", "id": "NANDO:1200168", "label_ja": "副腎脊髄ニューロパチー", "label_en": "Adrenomyeloneuropathy", "label_hira": "ふくじんせきずいにゅーろぱちー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200176", "id": "NANDO:1200176", "label_ja": "ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群", "label_en": "Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome", "label_hira": "みとこんどりあのうきんしょう・にゅうさんあしどーしす・のうそっちゅうようほっさしょうこうぐん", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200184", "id": "NANDO:1200184", "label_ja": "もやもや病（両側型）", "label_en": "Bilateral moyamoya disease", "label_hira": "もやもやびょう（りょうがわがた）", "notification_number": "22", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200187", "id": "NANDO:1200187", "label_ja": "孤発性クロイツフェルト・ヤコブ病", "label_en": "Sporadic Creutzfeldt-Jakob disease", "label_hira": "こはつせいくろいつふぇると・やこぶびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200204", "id": "NANDO:1200204", "label_ja": "亜急性硬化性全脳炎（乳児あるいは成人例）", "label_en": "Subacute sclerosing panencephalitis in infants or adults", "label_hira": "あきゅうせいこうかせいぜんのうえん（にゅうじあるいはせいじんれい）", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200212", "id": "NANDO:1200212", "label_ja": "全身性野生型トランスサイレチンアミロイドーシス", "label_en": "wild-type transthyretin amyloidosis", "label_hira": "ぜんしんせいやせいがたとらんすさいれちんあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200225", "id": "NANDO:1200225", "label_ja": "神経線維腫症", "label_en": "Neurofibromatosis", "label_hira": "しんけいせんいしゅしょう", "notification_number": "34", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200242", "id": "NANDO:1200242", "label_ja": "小児汎発性膿疱性乾癬", "label_en": "Childhood generalized pustular psoriasis", "label_hira": "しょうにはんぱつせいのうほうせいかんせん", "notification_number": "37", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200249", "id": "NANDO:1200249", "label_ja": "中毒性表皮壊死症（特殊型）", "label_en": "Toxic epidermal necrolysis (particular form)", "label_hira": "ちゅうどくせいひょうひえししょう（とくしゅがた）", "notification_number": "39", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200263", "id": "NANDO:1200263", "label_ja": "多発血管炎性肉芽腫症", "label_en": "Granulomatosis with polyangiitis", "label_hira": "たはつけっかんえんせいにくげしゅしょう", "notification_number": "44", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200266", "id": "NANDO:1200266", "label_ja": "バージャー病", "label_en": "Buerger's disease", "label_hira": "ばーじゃーびょう", "notification_number": "47", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200272", "id": "NANDO:1200272", "label_ja": "全身性エリテマトーデス", "label_en": "Systemic lupus erythematosus", "label_hira": "ぜんしんせいえりてまとーです", "notification_number": "49", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200276", "id": "NANDO:1200276", "label_ja": "多発性筋炎", "label_en": "Polymyositis", "label_hira": "たはつせいきんえん", "notification_number": "50", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200278", "id": "NANDO:1200278", "label_ja": "混合性結合組織病", "label_en": "Mixed connective tissue disease", "label_hira": "こんごうせいけつごうそしきびょう", "notification_number": "52", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200280", "id": "NANDO:1200280", "label_ja": "一次性シェーグレン症候群", "label_en": "Primary Sjogren's syndrome", "label_hira": "いちじせいしぇーぐれんしょうこうぐん", "notification_number": "53", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200281", "id": "NANDO:1200281", "label_ja": "二次性シェーグレン症候群", "label_en": "Secondary Sjogren's syndrome", "label_hira": "にじせいしぇーぐれんしょうこうぐん", "notification_number": "53", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200294", "id": "NANDO:1200294", "label_ja": "二次性拘束型心筋症", "label_en": "Secondary restrictive cardiomyopathy", "label_hira": "にじせいこうそくがたしんきんしょう", "notification_number": "59", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200297", "id": "NANDO:1200297", "label_ja": "二次性再生不良性貧血", "label_en": "Secondary aplastic anemia", "label_hira": "にじせいさいせいふりょうせいひんけつ", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200210", "id": "NANDO:1200210", "label_ja": "obsolete免疫グロブリン性アミロイドーシス;老人性トランスサイレチン型（TTR）アミロイドーシス;反応性AAアミロイドーシス", "label_en": "obsoleteAL amyloidosis; Transthyretin-related senile systemic amyloidosis", "label_hira": "めんえきぐろぶりんせいあみろいどーしす;ろうじんせいとらんすさいれちんがた（てぃーてぃーあーる）あみろいどーしす;はんのうせいえーえーあみろいどーしす", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200350", "id": "NANDO:1200350", "label_ja": "チェディアック・東症候群", "label_en": "Chédiak-Higashi syndrome", "label_hira": "ちぇでぃあっく・ひがししょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200357", "id": "NANDO:1200357", "label_ja": "慢性肉芽腫症", "label_en": "Chronic granulomatous disease", "label_hira": "まんせいにくげしゅしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200360", "id": "NANDO:1200360", "label_ja": "免疫不全を伴う無汗性外胚葉形成異常症", "label_en": "Anhidrotic ectodermal dysplasia with immunodeficiency", "label_hira": "めんえきふぜんをともなうむかんせいがいはいようけいせいいじょうしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200379", "id": "NANDO:1200379", "label_ja": "クッシング病", "label_en": "Cushing disease", "label_hira": "くっしんぐびょう", "notification_number": "75", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200405", "id": "NANDO:1200405", "label_ja": "NR5A1異常症", "label_en": "NR5A1 abnormality", "label_hira": "NR5A1いじょうしょう", "notification_number": "82", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200413", "id": "NANDO:1200413", "label_ja": "結核性アジソン病", "label_en": "Tuberculous Addison's disease", "label_hira": "けっかくせいあじそんびょう", "notification_number": "83", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200422", "id": "NANDO:1200422", "label_ja": "剥離型間質性肺炎 ", "label_en": "Desquamative interstitial pneumonia", "label_hira": "はくりがたかんしつせいはいえん", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200427", "id": "NANDO:1200427", "label_ja": "肺静脈閉塞症", "label_en": "Pulmonary veno-occlusive disease", "label_hira": "はいじょうみゃくへいそくしょう", "notification_number": "87", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200433", "id": "NANDO:1200433", "label_ja": "網膜色素変性症（常染色体優性遺伝型）", "label_en": "Autosomal dominant retinitis pigmentosa", "label_hira": "もうまくしきそへんせいしょう（じょうせんしょくたいゆうせいいでんがた）", "notification_number": "90", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200439", "id": "NANDO:1200439", "label_ja": "原発性胆汁性胆管炎", "label_en": "Primary biliary cholangitis", "label_hira": "げんぱつせいたんじゅうせいたんかんえん", "notification_number": "93", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200446", "id": "NANDO:1200446", "label_ja": "大腸型クローン病", "label_en": "Colonic Crohn's disease", "label_hira": "だいちょうがたくろーんびょう", "notification_number": "96", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200465", "id": "NANDO:1200465", "label_ja": "クリオピリン関連周期熱症候群", "label_en": "Cryopyrin-associated periodic syndrome", "label_hira": "くりおぴりんかんれんしゅうきねつしょうこうぐん", "notification_number": "106", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200471", "id": "NANDO:1200471", "label_ja": "関節型若年性特発性関節炎", "label_en": "Articular-type juvenile idiopathic arthritis", "label_hira": "かんせつがたじゃくねんせいとくはつせいかんせつえん", "notification_number": "107", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200491", "id": "NANDO:1200491", "label_ja": "顔面肩甲上腕型筋ジストロフィー", "label_en": "Facioscapulohumeral muscular dystrophy", "label_hira": "がんめんけんこうじょうわんがたきんじすとろふぃー", "notification_number": "113", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200514", "id": "NANDO:1200514", "label_ja": "DYT3ジストニア", "label_en": "Dystonia 3", "label_hira": "でぃーわいてぃー3じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200532", "id": "NANDO:1200532", "label_ja": "DYT19ジストニア", "label_en": "Dystonia 19", "label_hira": "でぃーわいてぃー19じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200540", "id": "NANDO:1200540", "label_ja": "脳内鉄沈着神経変性症4型", "label_en": "Neurodegeneration with brain iron accumulation type 4", "label_hira": "のうないてつちんちゃくしんけいへんせいしょうよんがた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200546", "id": "NANDO:1200546", "label_ja": "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", "label_en": "Hereditary diffuse leukoencephalopathy with spheroid", "label_hira": "しんけいじくさくすふぇろいどけいせいをともなういでんせいびまんせいはくしつのうしょう", "notification_number": "125", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200561", "id": "NANDO:1200561", "label_ja": "中隔視神経形成異常症", "label_en": "Septo-optic dysplasia", "label_hira": "ちゅうかくししんけいけいせいいじょうしょう", "notification_number": "134", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200563", "id": "NANDO:1200563", "label_ja": "片側巨脳症", "label_en": "Hemimegalencephaly", "label_hira": "へんそくきょのうしょう", "notification_number": "136", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200565", "id": "NANDO:1200565", "label_ja": "限局性皮質異形成タイプ1a", "label_en": "Focal cortical dysplasia type 1a", "label_hira": "げんきょくせいひしついけいせいたいぷ1えー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200594", "id": "NANDO:1200594", "label_ja": "早期ミオクロニー脳症", "label_en": "Early myoclonic encephalopathy", "label_hira": "そうきみおくろにーのうしょう", "notification_number": "147", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200613", "id": "NANDO:1200613", "label_ja": "表在性表皮融解性魚鱗癬", "label_en": "Superficial epidermolytic ichthyosis", "label_hira": "ひょうざいせいひょうひゆうかいせいぎょりんせん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200626", "id": "NANDO:1200626", "label_ja": "IBID", "label_en": "Ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature", "label_hira": "あいびーあいでぃー", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200651", "id": "NANDO:1200651", "label_ja": "皮膚脆弱型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, dermatosparaxis type", "label_hira": "ひふぜいじゃくがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200673", "id": "NANDO:1200673", "label_ja": "多脾症候群", "label_en": "Polysplenia syndrome", "label_hira": "たひしょうこうぐん", 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"disease": "http://nanbyodata.jp/ontology/NANDO_1200744", "id": "NANDO:1200744", "label_ja": "オスラー病", "label_en": "Osler disease", "label_hira": "おすらーびょう", "notification_number": "227", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200777", "id": "NANDO:1200777", "label_ja": "副腎皮質刺激ホルモン不応症", "label_en": "ACTH unresponsiveness", "label_hira": "ふくじんひしつしげきほるもんふおうしょう", "notification_number": "237", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200782", "id": "NANDO:1200782", "label_ja": "ビタミンD依存症1型", "label_en": "Vitamin D-dependent rickets, type 1", "label_hira": "びたみんでぃーいぞんしょう1がた", "notification_number": "239", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200795", "id": "NANDO:1200795", "label_ja": "コバラミン代謝異常 cblA", "label_en": "Methylmalonic acidemia cblA type", "label_hira": "こばらみんたいしゃいじょう しーびーえるえー", "notification_number": "246", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200804", "id": "NANDO:1200804", "label_ja": "OTC欠損症", "label_en": "Ornithine transcarbamylase deficiency", "label_hira": "おーてぃーしーけっそんしょう", "notification_number": "251", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200810", "id": "NANDO:1200810", "label_ja": "先天性葉酸吸収不全症", "label_en": "Hereditary folate malabsorption", "label_hira": "せんてんせいようさんきゅうしゅうふぜんしょう", "notification_number": "253", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200813", "id": "NANDO:1200813", "label_ja": "遺伝性コプロポルフィリン症", "label_en": "Hereditary coproporphyria", "label_hira": "いでんせいこぷろぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200855", "id": "NANDO:1200855", "label_ja": "原発性高カイロミクロン血症", "label_en": "Primary hyperchylomicronemia", "label_hira": "げんぱつせいこうかいろみくろんけっしょう", "notification_number": "262", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200865", "id": "NANDO:1200865", "label_ja": "家族性地中海熱非典型例", "label_en": "Atypical familial Mediterranean fever", "label_hira": "かぞくせいちちゅうかいねつひてんけいれい", "notification_number": "266", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200868", "id": "NANDO:1200868", "label_ja": "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群", "label_en": "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome", "label_hira": "かのうせいむきんせいかんせつえん・えそせいのうひしょう・あくねしょうこうぐん", "notification_number": "269", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200885", "id": "NANDO:1200885", "label_ja": "先天性赤血球形成異常性貧血", "label_en": "Congenital dyserythropoietic anemia", "label_hira": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ", "notification_number": "282", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200890", "id": "NANDO:1200890", "label_ja": "ダイアモンド・ブラックファン貧血", "label_en": "Diamond-Blackfan anemia", "label_hira": "だいあもんど・ぶらっくふぁんひんけつ", "notification_number": "284", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200898", "id": "NANDO:1200898", "label_ja": "自己免疫性後天性凝固第 VIII/8 因子欠乏症", "label_en": "Acquired hemophilia A", "label_hira": "じこめんえきせいこうてんせいぎょうこだい8/8いんしけつぼうしょう", "notification_number": "288", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200925", "id": "NANDO:1200925", "label_ja": "自己免疫性膵炎", "label_en": "Autoimmune pancreatitis", "label_hira": "じこめんえきせいすいえん", "notification_number": "300", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200967", "id": "NANDO:1200967", "label_ja": "ネイル・パテラ症候群", "label_en": "Nail-patella syndrome", "label_hira": "ねいる・ぱてらしょうこうぐん", "notification_number": "315", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200970", "id": "NANDO:1200970", "label_ja": "カルニチンパルミトイルトランスフェラーゼI欠損症", "label_en": "Carnitine palmitoyltransferase I deficiency", "label_hira": "かるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "notification_number": "316", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200652", "id": "NANDO:1200652", "label_ja": "obsolete デルマタン4-O-硫酸基転移酵素-1欠損型エーラス・ダンロス症候群", "label_en": "obsolete Dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome", "label_hira": "でるまたん4おーりゅうさんきてんいこうそ1けっそんがたえーらす・だんろすしょうこうぐん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200737", "id": "NANDO:1200737", "label_ja": "obsolete 分葉型膜性増殖性糸球体腎炎", "label_en": "obsolete Lobular membranoproliferative glomerulonephritis type I", "label_hira": "ぶんようがたまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201009", "id": "NANDO:1201009", "label_ja": "全身型多発血管炎性肉芽腫症", "label_en": "Systemic granulomatosis with polyangiitis", "label_hira": "ぜんしんがたたはつけっかんえんせいにくげしゅしょう", "notification_number": "44", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201010", "id": "NANDO:1201010", "label_ja": "びまん皮膚硬化型全身性強皮症", "label_en": "Diffuse cutaneous systemic sclerosis", "label_hira": "びまんひふこうかがたぜんしんせいきょうひしょう", "notification_number": "51", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201041", "id": "NANDO:1201041", "label_ja": "ホモシスチン尿症III型", "label_en": "Homocystinuria type 3", "label_hira": "ほもしすちんにょうしょう3がた", "notification_number": "337", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201053", "id": "NANDO:1201053", "label_ja": "スローチャンネル症候群", "label_en": "Slow-channel congenital myasthenic syndrome", "label_hira": "すろーちゃんねるしょうこうぐん", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201055", "id": "NANDO:1201055", "label_ja": "ナトリウムチャンネル筋無力症", "label_en": "Sodium channel myasthenia", "label_hira": "なとりうむちゃんねるむきんりょくしょう", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201066", "id": "NANDO:1201066", "label_ja": "接合部型表皮水疱症（非ヘルリッツ型）", "label_en": "Non-Herlitz junctional epidermolysis bullosa", "label_hira": "せつごうぶがたひょうひすいほうしょう（ひへるりっつがた）", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201085", "id": "NANDO:1201085", "label_ja": "類古典型エーラス・ダンロス症候群", "label_en": "Classical-like Ehlers-Danlos syndrome", "label_hira": "るいこてんがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201103", "id": "NANDO:1201103", "label_ja": "短指を伴う家族性指関節症", "label_en": "Familial digital arthropathy with brachydactyly", "label_hira": "たんしをともなうかぞくせいゆびかんせつしょう", "notification_number": "341", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100006", "id": "NANDO:2100006", "label_ja": "固形腫瘍（中枢神経系腫瘍を除く。）", "label_en": "Solid tumor (excluding solid tumour of the central nervous system)", "label_hira": "こけいしゅよう（ちゅうすうしんけいけいしゅようをのぞく。）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100009", "id": "NANDO:2100009", "label_ja": "ネフローゼ症候群", "label_en": "Nephrotic syndrome", "label_hira": "ねふろーぜしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100021", "id": "NANDO:2100021", "label_ja": "バーター症候群", "label_en": "Bartter syndrome", "label_hira": "ばーたーしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100035", "id": "NANDO:2100035", "label_ja": "嚢胞性線維症", "label_en": "Cystic fibrosis", "label_hira": "のうほうせいせんいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100036", "id": "NANDO:2100036", "label_ja": "気管支拡張症", "label_en": "Bronchiectasis", "label_hira": "きかんしかくちょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100051", "id": "NANDO:2100051", "label_ja": "心房細動", "label_en": "Atrial fibrillation", "label_hira": "しんぼうさいどう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100062", "id": "NANDO:2100062", "label_ja": "慢性心筋炎", "label_en": "Chronic myocarditis", "label_hira": "まんせいしんきんえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100070", "id": "NANDO:2100070", "label_ja": "虚血性心疾患", "label_en": "Ischemic heart disease", "label_hira": "きょけつせいしんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100093", "id": "NANDO:2100093", "label_ja": "大動脈弁下狭窄症", "label_en": "Subvalvular aortic stenosis", "label_hira": "だいどうみゃくべんかきょうさくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100096", "id": "NANDO:2100096", "label_ja": "肺動脈上行大動脈起始症", "label_en": "Origin of pulmonary artery from ascending aorta", "label_hira": "はいどうみゃくじょうこうだいどうみゃくきししょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100101", "id": "NANDO:2100101", "label_ja": "大動脈瘤", "label_en": "Aortic aneurysm", "label_hira": "だいどうみゃくりゅう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100113", "id": "NANDO:2100113", "label_ja": "成長ホルモン分泌不全性低身長症", "label_en": "Growth hormone deficiency", "label_hira": "せいちょうほるもんぶんぴつふぜんせいていしんちょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100117", "id": "NANDO:2100117", "label_ja": "尿崩症", "label_en": "Diabetes insipidus", "label_hira": "にょうほうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100118", "id": "NANDO:2100118", "label_ja": "中枢性塩喪失症候群", "label_en": "Cerebral salt wasting syndrome", "label_hira": "ちゅうすうせいえんそうしつしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100119", "id": "NANDO:2100119", "label_ja": "甲状腺機能亢進症", "label_en": "Hyperthyroidism", "label_hira": "こうじょうせんきのうこうしんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100130", "id": "NANDO:2100130", "label_ja": "見かけの鉱質コルチコイド過剰症候群", "label_en": "Apparent mineralocorticoid excess syndrome", "label_hira": "みかけのこうしつこるちこいどかじょうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100132", "id": "NANDO:2100132", "label_ja": "低アルドステロン症", "label_en": "Hypoaldosteronism", "label_hira": "ていあるどすてろんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100136", "id": "NANDO:2100136", "label_ja": "エストロゲン過剰症", "label_en": "Hyperestrogenism (excluding precocious puberty)", "label_hira": "えすとろげんかじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100147", "id": "NANDO:2100147", "label_ja": "脂肪萎縮症", "label_en": "Lipodystrophy", "label_hira": "しぼういしゅくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100164", "id": "NANDO:2100164", "label_ja": "糖質代謝異常症", "label_en": "Disorder of carbohydrate metabolism", "label_hira": "とうしつたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100174", "id": "NANDO:2100174", "label_ja": "α1-アンチトリプシン欠損症", "label_en": "Alpha-1-antitrypsin deficiency", "label_hira": "あるふぁ1あんちとりぷしんけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100176", "id": "NANDO:2100176", "label_ja": "巨赤芽球性貧血", "label_en": "Megaloblastic anemia", "label_hira": "きょせきがきゅうせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100191", "id": "NANDO:2100191", "label_ja": "先天性骨髄不全症候群", "label_en": " Congenital bone marrow failure syndrome", "label_hira": "せんてんせいこつずいふぜんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100192", "id": "NANDO:2100192", "label_ja": "周期性血小板減少症", "label_en": "Cyclic thrombocytopenia", "label_hira": "しゅうきせいけっしょうばんげんしょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100195", "id": "NANDO:2100195", "label_ja": "血小板機能異常症", "label_en": "Platelet dysfunction", "label_hira": "けっしょうばんきのういじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200014", "id": "NANDO:2200014", "label_ja": "慢性骨髄単球性白血病", "label_en": "Chronic myelomonocytic leukemia", "label_hira": "まんせいこつずいたんきゅうせいはっけつびょう", "notification_number": "84", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200033", "id": "NANDO:2200033", "label_ja": "24及び25に掲げるもののほか、組織球症", "label_en": "Other histiocytosis", "label_hira": "24および25にかかげるもののほか、そしききゅうしょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200042", "id": "NANDO:2200042", "label_ja": "網膜芽細胞腫", "label_en": "Retinoblastoma", "label_hira": "もうまくがさいぼうしゅ", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200055", "id": "NANDO:2200055", "label_ja": "末梢性未分化神経外胚葉性腫瘍", "label_en": "Peripheral primitive neuroectodermal tumors", "label_hira": "まっしょうせいみぶんかしんけいがいはいようせいしゅよう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200105", "id": "NANDO:2200105", "label_ja": "成熟奇形腫", "label_en": "Mature teratoma", "label_hira": "せいじゅくきけいしゅ", "notification_number": "51", "category": "syoman" }, { "disease": 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"syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200137", "id": "NANDO:2200137", "label_ja": "慢性腎盂腎炎", "label_en": "Chronic pyelonephritis", "label_hira": "まんせいじんうじんえん", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200164", "id": "NANDO:2200164", "label_ja": "交差性変位腎", "label_en": "Crossed renal ectopia", "label_hira": "こうさせいへんいじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200171", "id": "NANDO:2200171", "label_ja": "多房性腎嚢胞", "label_en": "Multilocular cysts of the kidney", "label_hira": "たぼうせいじんのうほう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200175", "id": "NANDO:2200175", "label_ja": "腎杯憩室", "label_en": "Calyceal diverticulum", "label_hira": "じんぱいけいしつ", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200177", "id": "NANDO:2200177", "label_ja": "巨大腎杯症", "label_en": "Megacalycosis", "label_hira": "きょだいじんぱいしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201434", "id": "NANDO:2201434", "label_ja": "一過性新生児糖尿病", "label_en": "Transient neonatal diabetes mellitus", "label_hira": "いっかせいしんせいじとうにょうびょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201435", "id": "NANDO:2201435", "label_ja": "永続性新生児糖尿病", "label_en": "Permanent neonatal diabetes mellitus", "label_hira": "えいぞくせいしんせいじとうにょうびょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201460", "id": "NANDO:2201460", "label_ja": "第XIII因子欠乏症II型", "label_en": "Type II factor XIII deficiency", "label_hira": "だいじゅうさんいんしけつぼうしょう2がた", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201464", "id": "NANDO:2201464", "label_ja": "S状結腸型ヒルシュスプルング病", "label_en": "Rectosigmoid Hirschsprung's disease", "label_hira": "えすじょうけっちょうがたひるしゅすぷるんぐびょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201473", "id": "NANDO:2201473", "label_ja": "肝外門脈閉塞症", "label_en": "Extrahepatic portal vein obstruction", "label_hira": "かんがいもんみゃくへいそくしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201480", "id": "NANDO:2201480", "label_ja": "腫瘍性骨軟化症", "label_en": "Tumor-induced hypophosphatemic osteomalacia", "label_hira": "しゅようせいこつなんかしょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201482", "id": "NANDO:2201482", "label_ja": "続発性萎縮腎", "label_en": "Secondary atrophic kidney", "label_hira": "ぞくはつせいいしゅくじん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201424", "id": "NANDO:2201424", "label_ja": "Pansclerotic morphea", "label_en": "Pansclerotic morphea", "label_hira": "", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201495", "id": "NANDO:2201495", "label_ja": "外傷に続発した脊髄空洞症", "label_en": "Posttraumatic Syringomyelia", "label_hira": "がいしょうにぞくはつしたせきずいくうどうしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201501", "id": "NANDO:2201501", "label_ja": "限局性皮質異形成タイプ1c", "label_en": "Focal cortical dysplasia type 1c", "label_hira": "げんきょくせいひしついけいせいたいぷ1しー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201509", "id": "NANDO:2201509", "label_ja": "先天性ミオトニー", "label_en": "Myotonia congenita", "label_hira": "せんてんせいみおとにー", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201523", "id": "NANDO:2201523", "label_ja": "鏡・緒方症候群", "label_en": "Kagami-Ogata syndrome", "label_hira": "かがみ・おがたしょうこうぐん", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201526", "id": "NANDO:2201526", "label_ja": "トリーチャーコリンズ症候群", "label_en": "Treacher Collins syndrome", "label_hira": "とりーちゃーこりんずしょうこうぐん", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201121", "id": "NANDO:1201121", "label_ja": "全身性 AL アミロイドーシス", "label_en": "Systemic AL Amyloidosis", "label_hira": "ぜんしんせいえーえるあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201151", "id": "NANDO:1201151", "label_ja": "脳内鉄沈着神経変性症6型", "label_en": "Neurodegeneration with brain iron accumulation type6", "label_hira": "のうないてつちんちゃくしんけいへんせいしょう6がた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201156", "id": "NANDO:1201156", "label_ja": "脳内鉄沈着神経変性症2B型", "label_en": "Neurodegeneration with brain iron accumulation type2B", "label_hira": "のうないてつちんちゃくしんけいへんせいしょう2びーがた", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201158", "id": "NANDO:1201158", "label_ja": "マルファン症候群", "label_en": "Marfan syndrome", "label_hira": "まるふぁんしょうこうぐん", "notification_number": "167", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201161", "id": "NANDO:1201161", "label_ja": "ファイファー症候群2型", "label_en": "Pfeiffer syndrome type 2", "label_hira": "ふぁいふぁーしょうこうぐん2がた", "notification_number": "183", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201164", "id": "NANDO:1201164", "label_ja": "コケイン症候群II型", "label_en": "Cockayne syndrome type 2", "label_hira": "こけいんしょうこうぐん2がた", "notification_number": "192", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201169", "id": "NANDO:1201169", "label_ja": "ペルオキシソーム単独欠損症", "label_en": "single peroxisomal enzyme deficiency", "label_hira": "ぺるおきしそーむたんどくけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200089", "id": "NANDO:2200089", "label_ja": "乏突起神経膠腫", "label_en": "Oligodendroglioma", "label_hira": "ぼうとっきしんけいこうしゅ", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200104", "id": "NANDO:2200104", "label_ja": "奇形腫", "label_en": "Teratoma of the central nervous system", "label_hira": "きけいしゅ", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200107", "id": "NANDO:2200107", "label_ja": "悪性転化を伴う奇形腫", "label_en": "Teratoma with malignant transformation", "label_hira": "あくせいてんかをともなうきけいしゅ", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200123", "id": "NANDO:2200123", "label_ja": "膜性増殖性糸球体腎炎", "label_en": "Membranoproliferative glomerulonephritis", "label_hira": "まくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200154", "id": "NANDO:2200154", "label_ja": "常染色体劣性多発性嚢胞腎", "label_en": "Autosomal recessive polycystic kidney disease", "label_hira": "じょうせんしょくたいれっせいたはつせいのうほうじん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200156", "id": "NANDO:2200156", "label_ja": "腎無形成", "label_en": "Renal aplasia", "label_hira": "じんむけいせい", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200162", "id": "NANDO:2200162", "label_ja": "過剰腎", "label_en": "Supernumerary kidney", "label_hira": "かじょうじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200166", "id": "NANDO:2200166", "label_ja": "胸部腎", "label_en": "Throacic kidney", "label_hira": "きょうぶじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200169", "id": "NANDO:2200169", "label_ja": "馬蹄腎", "label_en": "Horseshoe kidney", "label_hira": "ばていじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200170", "id": "NANDO:2200170", "label_ja": "髄質嚢胞腎", "label_en": "Medullary cystic kidney", "label_hira": "ずいしつのうほうじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200187", "id": "NANDO:2200187", "label_ja": "ファンコーニ症候群", "label_en": "Fanconi syndrome", "label_hira": "ふぁんこーにしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200188", "id": "NANDO:2200188", "label_ja": "ロウ症候群", "label_en": "Lowe syndrome", "label_hira": "ろうしょうこうぐん", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200199", "id": "NANDO:2200199", "label_ja": "特発性間質性肺炎", "label_en": "Idiopathic interstitial pneumonia", "label_hira": "とくはつせいかんしつせいはいえん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200209", "id": "NANDO:2200209", "label_ja": "閉塞性細気管支炎", "label_en": "Bronchiolitis obliterans", "label_hira": "へいそくせいさいきかんしえん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200218", "id": "NANDO:2200218", "label_ja": "多源性心房頻拍", "label_en": "Multiple atrial tachycardia", "label_hira": "たげんせいしんぼうひんぱく", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100203", "id": "NANDO:2100203", "label_ja": "複合免疫不全症", "label_en": "Combined immunodeficiency", "label_hira": "ふくごうめんえきふぜんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100205", "id": "NANDO:2100205", "label_ja": "液性免疫不全を主とする疾患", "label_en": "Predominantly antibody deficiency", "label_hira": "えきせいめんえきふぜんをしゅとするしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100224", "id": "NANDO:2100224", "label_ja": "脆弱Ｘ症候群", "label_en": "Fragile X syndrome", "label_hira": "ぜいじゃくえっくすしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100238", "id": "NANDO:2100238", "label_ja": "脊髄小脳変性症", "label_en": "Spinocerebellar degeneration", "label_hira": "せきずいしょうのうへんせいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100242", "id": "NANDO:2100242", "label_ja": "乳児両側線条体壊死", "label_en": "Infantile bilateral striatal necrosis", "label_hira": "にゅうじりょうそくせんじょうたいえし", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100246", "id": "NANDO:2100246", "label_ja": "ラスムッセン脳炎", "label_en": "Rasmussen's encephalitis", "label_hira": "らすむっせんのうえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100249", "id": "NANDO:2100249", "label_ja": "難治頻回部分発作重積型急性脳炎", "label_en": "Acute encephalitis with refractory, repetitive partial seizures", "label_hira": "なんちひんかいぶぶんほっさじゅうせきがたきゅうせいのうえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100254", "id": "NANDO:2100254", "label_ja": "難治性下痢症", "label_en": "Congenital malabsorption", "label_hira": "なんちせいげりしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100270", "id": "NANDO:2100270", "label_ja": "obsolete 先天性門脈欠損症", "label_en": "obsolete Congenital absence of portal vein", "label_hira": "せんてんせいもんみゃくけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100280", "id": "NANDO:2100280", "label_ja": "染色体または遺伝子に変化を伴う症候群", "label_en": "Chromosome abnormality", "label_hira": "せんしょくたいまたはいでんしにへんかをともなうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100281", "id": "NANDO:2100281", "label_ja": "皮膚疾患群", "label_en": "Skin disease", "label_hira": "ひふしっかんぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100295", "id": "NANDO:2100295", "label_ja": "脈管奇形", "label_en": "Vascular malformation", "label_hira": "みゃっかんけい/みゃくかんけいきけい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100303", "id": "NANDO:2100303", "label_ja": "早産児ビリルビン脳症", "label_en": "Bilirubin encephalopathy in preterm infants", "label_hira": "そうざんじびりるびんのうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200236", "id": "NANDO:2200236", "label_ja": "心臓腫瘍", "label_en": "Cardiac tumor", "label_hira": "しんぞうしゅよう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200251", "id": "NANDO:2200251", "label_ja": "三尖弁閉鎖症", "label_en": "Tricuspid atresia", "label_hira": "さんせんべんへいさしょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200258", "id": "NANDO:2200258", "label_ja": "完全大血管転位症", "label_en": "Complete transposition of the great arteries", "label_hira": "かんぜんだいけっかんてんいしょう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200267", "id": "NANDO:2200267", "label_ja": "静脈洞型心房中隔欠損症", "label_en": "Atrial septal defect, sinus venosus type", "label_hira": "じょうみゃくどうがたしんぼうちゅうかくけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200269", "id": "NANDO:2200269", "label_ja": "完全型房室中隔欠損症", "label_en": "Complete atrioventricular septal defect", "label_hira": "かんぜんがたぼうしつちゅうかくけっそんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200279", "id": "NANDO:2200279", "label_ja": "末梢性肺動脈狭窄症", "label_en": "Peripheral pulmonary stenosis", "label_hira": "まっしょうせいはいどうみゃくきょうさくしょう", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200288", "id": "NANDO:2200288", "label_ja": "大動脈弓離断複合", "label_en": "Interruption of aortic arch complex", "label_hira": "だいどうみゃくきゅうりだんふくごう", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200291", "id": "NANDO:2200291", "label_ja": "左肺動脈右肺動脈起始症", "label_en": "Vascular sling", "label_hira": "ひだりはいどうみゃくみぎはいどうみゃくきししょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200299", "id": "NANDO:2200299", "label_ja": "慢性肺性心", "label_en": "Chronic cor pulmonale", "label_hira": "まんせいはいせいしん", "notification_number": "95", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200307", "id": "NANDO:2200307", "label_ja": "大動脈弁閉鎖不全症", "label_en": "Aortic valve regurgitation", "label_hira": "だいどうみゃくべんへいさふぜんしょう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200313", "id": "NANDO:2200313", "label_ja": "後天性下垂体機能低下症", "label_en": "Acquired hypopituitarism", "label_hira": "こうてんせいかすいたいきのうていかしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200365", "id": "NANDO:2200365", "label_ja": "アルドステロン合成酵素欠損症", "label_en": "Aldosterone synthase deficiency", "label_hira": "あるどすてろんごうせいこうそけっそんしょう", "notification_number": "68", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200367", "id": "NANDO:2200367", "label_ja": "偽性低アルドステロン症", "label_en": "Pseudohypoaldosteronism", "label_hira": "ぎせいていあるどすてろんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200390", "id": "NANDO:2200390", "label_ja": "17β-ヒドロキシステロイド脱水素酵素欠損症", "label_en": "17 beta-hydroxysteroid dehydrogenase deficiency", "label_hira": "17べーたひどろきしすてろいどだっすいそこうそけっそんしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200419", "id": "NANDO:2200419", "label_ja": "若年性多発性筋炎", "label_en": "Juvenile polymyositis", "label_hira": "じゃくねんせいたはつせいひふきんえん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200424", "id": "NANDO:2200424", "label_ja": "多発血管炎性肉芽腫症", "label_en": "Granulomatosis with polyangiitis", "label_hira": "たはつけっかんえんせいにくげしゅしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200444", "id": "NANDO:2200444", "label_ja": "ケルビズム", "label_en": "Cherubism", "label_hira": "けるびずむ", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200449", "id": "NANDO:2200449", "label_ja": "NLRP-12関連周期性症候群", "label_en": "NLRP12-associated periodic syndrome", "label_hira": "えぬえるあーるぴー12かんれんしゅうきせいしょうこうぐん", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200465", "id": "NANDO:2200465", "label_ja": "脂肪萎縮性糖尿病", "label_en": "Lipoatrophic diabetes", "label_hira": "しぼういしゅくせいとうにょうびょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200475", "id": "NANDO:2200475", "label_ja": "高メチオニン血症", "label_en": "Hypermethioninemia", "label_hira": "こうめちおにんけっしょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200493", "id": "NANDO:2200493", "label_ja": "β-ケトチオラーゼ欠損症", "label_en": "Beta-ketothiolase deficiency", "label_hira": "べーたけとちおらーぜけっそんしょう", "notification_number": "107", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200497", "id": "NANDO:2200497", "label_ja": "3-ヒドロキシ-3-メチルグルタル酸血症", "label_en": "3-hydroxy-3-methylglutaric acidemia", "label_hira": "3ひどろきし3めちるぐるたるさんけっしょう", "notification_number": "102", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200508", "id": "NANDO:2200508", "label_ja": "全身性カルニチン欠損症", "label_en": "Organic cation transporter 2 deficiency", "label_hira": "ぜんしんせいかるにちんけっそんしょう", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200539", "id": "NANDO:2200539", "label_ja": "糖原病III型", "label_en": "Glycogen storage disease type III", "label_hira": "とうげんびょう3がた", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200565", "id": "NANDO:2200565", "label_ja": "ファーバー病", "label_en": "Farber disease", "label_hira": "ふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200573", "id": "NANDO:2200573", "label_ja": "神経セロイドリポフスチン症", "label_en": "Neuronal ceroid lipofuscinoses", "label_hira": "しんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200584", "id": "NANDO:2200584", "label_ja": "先天性腸性肢端皮膚炎", "label_en": "Acrodermatitis enteropathica", "label_hira": "せんてんせいちょうせいしたんひふえん", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200586", "id": "NANDO:2200586", "label_ja": "ヒポキサンチングアニンホスホリボシルトランスフェラーゼ欠損症", "label_en": "Lesch-Nyhan syndrome", "label_hira": "ひぽきさんちんぐあにんほすほりぼしるとらんすふぇらーぜけっそんしょう", "notification_number": "79", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200599", "id": "NANDO:2200599", "label_ja": "コハク酸セミアルデヒド脱水素酵素欠損症", "label_en": "Succinic semialdehyde dehydrogenase deficiency", "label_hira": "こはくさんせみあるでひどだっすいそこうそけっそんしょう", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200602", "id": "NANDO:2200602", "label_ja": "家族性高コレステロール血症", "label_en": "Familial hypercholesterolemia", "label_hira": "かぞくせいこうこれすてろーるけっしょう", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200614", "id": "NANDO:2200614", "label_ja": "先天性赤芽球癆", "label_en": "Congenital red cell aplasia", "label_hira": "せんてんせいせきがきゅうろう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200617", "id": "NANDO:2200617", "label_ja": "無トランスフェリン血症", "label_en": "Congenital atransferrinemia", "label_hira": "むとらんすふぇりんけっしょう", "notification_number": "50", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200621", "id": "NANDO:2200621", "label_ja": "発作性夜間ヘモグロビン尿症", "label_en": "Paroxysmal nocturnal hemoglobinuria", "label_hira": "ほっさせいやかんへもぐろびんにょうしょう", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200628", "id": "NANDO:2200628", "label_ja": "ピルビン酸キナーゼ欠乏性貧血", "label_en": "Hemolytic anemia due to red cell pyruvate kinase deficiency", "label_hira": "ぴるびんさんきなーぜけつぼうせいひんけつ", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200629", "id": "NANDO:2200629", "label_ja": "11から17までに掲げるもののほか、遺伝性溶血性貧血", "label_en": "Other hereditary hemolytic anemia", "label_hira": "11から17までにかかげるもののほか、いでんせいようけつせいひんけつ", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200658", "id": "NANDO:2200658", "label_ja": "血小板放出機構異常症", "label_en": "Platelet secretion defects", "label_hira": "けっしょうばんほうしゅつきこういじょうしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200673", "id": "NANDO:2200673", "label_ja": "先天性プロトロンビン欠乏症", "label_en": "Hypoprothrombinemia", "label_hira": "せんてんせいぷろとろんびんけつぼうしょう", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200692", "id": "NANDO:2200692", "label_ja": "骨髄線維症", "label_en": "Myelofibrosis", "label_hira": "こつずいせんいしょう", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200693", "id": "NANDO:2200693", "label_ja": "再生不良性貧血", "label_en": "Aplastic anemia", "label_hira": "さいせいふりょうせいひんけつ", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200707", "id": "NANDO:2200707", "label_ja": "ブルーム症候群", "label_en": "Bloom syndrome", "label_hira": "ぶるーむしょうこうぐん", "notification_number": "54", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200717", "id": "NANDO:2200717", "label_ja": "分類不能型免疫不全症", "label_en": "Common variable immunodeficiency", "label_hira": "ぶんるいふのうがためんえきふぜんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200764", "id": "NANDO:2200764", "label_ja": "慢性皮膚粘膜カンジダ症", "label_en": "Chronic mucocutaneous candidiasis", "label_hira": "まんせいひふねんまくかんじだしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200771", "id": "NANDO:2200771", "label_ja": "MCM4遺伝子異常症", "label_en": "MCM4 mutation", "label_hira": "えむしーえむ4いでんしいじょうしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200796", "id": "NANDO:2200796", "label_ja": "49及び50に掲げるもののほか、先天性補体欠損症", "label_en": "Other inherited deficiency of complement system", "label_hira": "49および50にかかげるもののほか、せんてんせいほたいけっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200810", "id": "NANDO:2200810", "label_ja": "ヒト免疫不全ウイルス", "label_en": "HIV infection", "label_hira": "ひとめんえきふぜんういるす", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200815", "id": "NANDO:2200815", "label_ja": "脊髄脂肪腫", "label_en": "Spinal lipoma", "label_hira": "せきずいしぼうしゅ", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200840", "id": "NANDO:2200840", "label_ja": "脆弱Ｘ症候群", "label_en": "Fragile X syndrome", "label_hira": "ぜいじゃくえっくすしょうこうぐん", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200853", "id": "NANDO:2200853", "label_ja": "脊髄性筋萎縮症", "label_en": "Spinal muscular atrophy", "label_hira": "せきずいせいきんいしゅくしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200869", "id": "NANDO:2200869", "label_ja": "ネマリンミオパチー", "label_en": "Nemaline myopathy", "label_hira": "ねまりんみおぱちー", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200883", "id": "NANDO:2200883", "label_ja": "小児交互性片麻痺", "label_en": "Alternating hemiplegia of childhood", "label_hira": "しょうにこうごせいかたまひ", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200890", "id": "NANDO:2200890", "label_ja": "先天性風疹症候群", "label_en": "Congenital rubella syndrome", "label_hira": "せんてんせいふうしんしょうこうぐん", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200798", "id": "NANDO:2200798", "label_ja": "obsolete Factor I 欠損症", "label_en": "obsolete Factor I deficiency", "label_hira": "ふぁくたーあいけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200901", "id": "NANDO:2200901", "label_ja": "痙攣重積型急性脳症", "label_en": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "label_hira": "けいれんじゅうせきがたきゅうせいのうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200906", "id": "NANDO:2200906", "label_ja": "重症筋無力症", "label_en": "Myasthenia gravis", "label_hira": "じゅうしょうきんむりょくしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200911", "id": "NANDO:2200911", "label_ja": "アミラーゼ欠損症", "label_en": "Amylase deficiency", "label_hira": "あみらーぜけっそんしょう", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200935", "id": "NANDO:2200935", "label_ja": "先天性胆道拡張症", "label_en": "Congenital biliary dilatation", "label_hira": "せんてんせいたんどうかくちょうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200944", "id": "NANDO:2200944", "label_ja": "短腸症", "label_en": "Short bowel syndrome", "label_hira": "たんちょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200979", "id": "NANDO:2200979", "label_ja": "スミス・レムリ・オピッツ症候群", "label_en": "Smith-Lemli-Opitz syndrome", "label_hira": "すみす・れむり・おぴっつしょうこうぐん", "notification_number": "24", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201001", "id": "NANDO:2201001", "label_ja": "膿疱性乾癬（汎発型）", "label_en": "Pustular psoriasis", "label_hira": "のうほうせいかんせん（はんぱつがた）", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201008", "id": "NANDO:2201008", "label_ja": "胸郭不全症候群", "label_en": "Thoracic insufficiency syndrome", "label_hira": "きょうかくふぜんしょうこうぐん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201018", "id": "NANDO:2201018", "label_ja": "偽性軟骨無形成症", "label_en": "Pseudoachondroplasia", "label_hira": "ぎせいなんこつむけいせいしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201041", "id": "NANDO:2201041", "label_ja": "非閉塞性肥大型心筋症", "label_en": "Hypertrophic nonobstructive cardiomyopathy", "label_hira": "ひへいそくせいひだいがたしんきんしょう", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201053", "id": "NANDO:2201053", "label_ja": "MEN2B", "label_en": "Multiple endocrine neoplasia type 2B", "label_hira": "えむいーえぬ2びー", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201068", "id": "NANDO:2201068", "label_ja": "家族性寒冷自己炎症症候群", "label_en": "familial cold autoinflammatory syndrome", "label_hira": "かぞくせいかんれいじこえんしょうしょうこうぐん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201071", "id": "NANDO:2201071", "label_ja": "MODY3", "label_en": "Maturity-onset diabetes of the young type 3", "label_hira": "えむおーでぃーわい3", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201072", "id": "NANDO:2201072", "label_ja": "MODY4", "label_en": "Maturity-onset diabetes of the young type 4", "label_hira": "えむおーでぃーわい4", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201091", "id": "NANDO:2201091", "label_ja": "新生児期発症型オルニチントランスカルバミラーゼ欠損症", "label_en": "Neonatal-onset ornitine transcarbamylase deficiency", "label_hira": "しんせいじきはっしょうがたおるにちんとらんすかるばみらーぜけっそんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201116", "id": "NANDO:2201116", "label_ja": "発症前型イソ吉草酸血症", "label_en": "Presymptomatic isovaleric acidemia", "label_hira": "はっしょうまえがたいそきっそうさんけっしょう", "notification_number": "95", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201120", "id": "NANDO:2201120", "label_ja": "急性発症型3-ヒドロキシ-3-メチルグルタル酸血症", "label_en": "Acute-onset 3-hydroxy-3-methylglutaric acidemia", "label_hira": "きゅうせいはっしょうがた3ひどろきし3めちるぐるたるさんけっしょう", "notification_number": "102", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201139", "id": "NANDO:2201139", "label_ja": "発症前型極長鎖アシルCoA脱水素酵素欠損症", "label_en": "Presymptomatic very-long-chain acyl-CoA dehydrogenase deficiency", "label_hira": "はっしょうまえがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201152", "id": "NANDO:2201152", "label_ja": "糖原病0b型", "label_en": "Glycogen storage disease type 0b", "label_hira": "とうげんびょう0びーがた", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201155", "id": "NANDO:2201155", "label_ja": "糖原病IIIa型", "label_en": "Glycogen storage disease type 3a", "label_hira": "とうげんびょう3えーがた", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201188", "id": "NANDO:2201188", "label_ja": "乳児型α - マンノシドーシス", "label_en": "Alpha-mannosidosis, infantile form", "label_hira": "にゅうじがたあるふぁまんのしどーしす", "notification_number": "128", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201191", "id": "NANDO:2201191", "label_ja": "シアリドーシスI型", "label_en": "Sialidosis type 1", "label_hira": "しありどーしす1がた", "notification_number": "117", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201209", "id": "NANDO:2201209", "label_ja": "成人型ニーマン・ピック病C型", "label_en": "Adult-onset Niemann-Pick disease type C", "label_hira": "せいじんがたにーまん・ぴっくびょうしーがた", "notification_number": "122", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201212", "id": "NANDO:2201212", "label_ja": "ゴーシェ病3型", "label_en": "Gaucher disease type 3", "label_hira": "ごーしぇびょう3がた", "notification_number": "115", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201219", "id": "NANDO:2201219", "label_ja": "成人型クラッベ病", "label_en": "Adult Krabbe disease", "label_hira": "せいじんがたくらっべびょう", "notification_number": "114", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201230", "id": "NANDO:2201230", "label_ja": "小児型ポンペ病", "label_en": "Childhood-onset Pompe disease", "label_hira": "しょうにがたぽんぺびょう", "notification_number": "126", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201234", "id": "NANDO:2201234", "label_ja": "腎型シスチン症", "label_en": "Nephropathic cystinosis", "label_hira": "じんがたしすちんしょう", "notification_number": "120", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201241", "id": "NANDO:2201241", "label_ja": "乳児型神経セロイドリポフスチン症", "label_en": "Infantile neuronal ceroid lipofuscinosis", "label_hira": "にゅうじがたしんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201261", "id": "NANDO:2201261", "label_ja": "皮膚脆弱型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, dermatosparaxis type", "label_hira": "ひふぜいじゃくがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201264", "id": "NANDO:2201264", "label_ja": "遺伝性コプロポルフィリン症", "label_en": "Hereditary coproporphyria", "label_hira": "いでんせいこぷろぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201270", "id": "NANDO:2201270", "label_ja": "肝性骨髄性ポルフィリン症", "label_en": "Hepatoerythropoietic porphyria", "label_hira": "かんせいこつずいせいぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201272", "id": "NANDO:2201272", "label_ja": "続発性自己免疫性溶血性貧血", "label_en": "Secondary autoimmune hemolytic anemia", "label_hira": "ぞくはつせいじこめんえきせいようけつせいひんけつ", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201280", "id": "NANDO:2201280", "label_ja": "p22phox欠損慢性肉芽腫症", "label_en": "p22phox-deficient chronic granulomatous disease", "label_hira": "ぴー22ふぉっくすけっそんまんせいにくげしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201282", "id": "NANDO:2201282", "label_ja": "p67phox欠損慢性肉芽腫症", "label_en": "p67phox-deficient chronic granulomatous disease", "label_hira": "ぴー67ふぉっくすけっそんまんせいにくげしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201285", "id": "NANDO:2201285", "label_ja": "仙尾部奇形腫（Altman II型）", "label_en": "Altman type II sacrococcygeal teratoma", "label_hira": "せんびぶきけいしゅ（あるとまん2がた）", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201287", "id": "NANDO:2201287", "label_ja": "仙尾部奇形腫（Altman IV型）", "label_en": "Altman type IV sacrococcygeal teratoma", "label_hira": "せんびぶきけいしゅ（あるとまん4がた）", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201299", "id": "NANDO:2201299", "label_ja": "AGAT欠損症", "label_en": "AGAT deficiency", "label_hira": "えーじーえーてぃーけっそんしょう", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201322", "id": "NANDO:2201322", "label_ja": "視神経脊髄炎", "label_en": "Neuromyelitis optica", "label_hira": "ししんけいせきずいえん", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201330", "id": "NANDO:2201330", "label_ja": "III型胆道閉鎖症", "label_en": "Type III biliary atresia", "label_hira": "3がたたんどうへいさしょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201345", "id": "NANDO:2201345", "label_ja": "軟骨無発生症2型", "label_en": "Achondrogenesis type 2", "label_hira": "なんこつむはっせいしょう2がた", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201350", "id": "NANDO:2201350", "label_ja": "Kniest異形成症", "label_en": "Kniest dysplasia", "label_hira": "くにーすといけいせいしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201355", "id": "NANDO:2201355", "label_ja": "Stickler様症候群", "label_en": "Stickler-like syndrome", "label_hira": "すてぃっくらーようしょうこうぐん", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201393", "id": "NANDO:2201393", "label_ja": "ＣＡＳＫ異常症", "label_en": "CASK abnormality", "label_hira": "きゃすくいじょうしょう", "notification_number": "85", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201401", "id": "NANDO:2201401", "label_ja": "視床下部過誤腫症候群", "label_en": "Hypothalamic hamartoma syndrome", "label_hira": "ししょうかぶかごしゅしょうこうぐん", "notification_number": "70", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201403", "id": "NANDO:2201403", "label_ja": "早期ミオクロニー脳症", "label_en": "Early myoclonic encephalopathy", "label_hira": "そうきみおくろにーのうしょう", "notification_number": "72", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201409", "id": "NANDO:2201409", "label_ja": "ビタミンB6依存性てんかん", "label_en": "Vitamine B6-dependent epilepsy", "label_hira": "びたみんびー6いぞんせいてんかん", "notification_number": "99", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201419", "id": "NANDO:2201419", "label_ja": "ピット・ホプキンス症候群", "label_en": "Pitt-Hopkins syndrome", "label_hira": "ぴっと・ほぷきんすしょうこうぐん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200021", "id": "NANDO:1200021", "label_ja": "先天性筋無力症候群", "label_en": "Congenital myasthenic syndrome", "label_hira": "せんてんせいきんむりょくしょうこうぐん", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200023", "id": "NANDO:1200023", "label_ja": "多発性硬化症", "label_en": "Multiple sclerosis", "label_hira": "たはつせいこうかしょう", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200026", "id": "NANDO:1200026", "label_ja": "二次性進行型多発性硬化症", "label_en": "Secondary progressive multiple sclerosis", "label_hira": "にじせいしんこうがたたはつせいこうかしょう", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200040", "id": "NANDO:1200040", "label_ja": "常染色体優性遺伝性脊髄小脳変性症", "label_en": "Autosomal dominant hereditary spinocerebellar degeneration", "label_hira": "じょうせんしょくたいゆうせいいでんせいせきずいしょうのうへんせいしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200049", "id": "NANDO:1200049", "label_ja": "常染色体劣性遺伝性脊髄小脳変性症", "label_en": "Autosomal recessive hereditary spinocerebellar degeneration", "label_hira": "じょうせんしょくたいれっせいいでんせいせきずいしょうのうへんせいしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200050", "id": "NANDO:1200050", "label_ja": "ビタミンE単独欠乏性失調症", "label_en": "Ataxia with isolated vitamin E deficiency", "label_hira": "びたみんいーたんどくけつぼうせいしっちょうしょう", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200094", "id": "NANDO:1200094", "label_ja": "ハーラー病", "label_en": "Hurler disease", "label_hira": "はーらーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200102", "id": "NANDO:1200102", "label_ja": "サンフィリッポ症候群B型", "label_en": "Sanfilippo disease type B", "label_hira": "さんふぃりっぽしょうこうぐんびーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200110", "id": "NANDO:1200110", "label_ja": "マロトー・ラミー症候群（軽症型）", "label_en": "Maroteaux Lamy syndrome, slowly progressing form", "label_hira": "まろとーらみーしょうこうぐん（けいしょうがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200112", "id": "NANDO:1200112", "label_ja": "Sly病（新生児型）", "label_en": "Sly syndrome, neonatal form", "label_hira": "すらいびょう（しんせいじがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200118", "id": "NANDO:1200118", "label_ja": "シアリドーシスII型", "label_en": "Sialidosis type 2", "label_hira": "しありどーしす2がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200133", "id": "NANDO:1200133", "label_ja": "アスパルチルグルコサミン尿症", "label_en": "Aspartylglucosaminuria", "label_hira": "あすぱるちるぐるこさみんにょうしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200137", "id": "NANDO:1200137", "label_ja": "シンドラー病III型", "label_en": "Schindler disease type 3", "label_hira": "しんどらーびょう3がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200182", "id": "NANDO:1200182", "label_ja": "原因不明な高乳酸血症", "label_en": "Hyperlacticacidemia with no identified etiology", "label_hira": "げんいんふめいなこうにゅうさんけっしょう", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200200", "id": "NANDO:1200200", "label_ja": "慢性再発−寛解型亜急性硬化性全脳炎", "label_en": "Chronic relapsing-remitting subacute sclerosing panencephalitis", "label_hira": "まんせいさいはつ-かんかいがたあきゅうせいこうかせいぜんのうえん", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200208", "id": "NANDO:1200208", "label_ja": "家族性特発性基底核石灰化症", "label_en": "Familial idiopathic basal ganglia calcification", "label_hira": "かぞくせいとっぱつせいきていかくせっかいかしょう", "notification_number": "27", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200220", "id": "NANDO:1200220", "label_ja": "ベスレムミオパチー", "label_en": "Bethlem Myopathy", "label_hira": "べすれむみおぱちー", "notification_number": "31", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200229", "id": "NANDO:1200229", "label_ja": "尋常性天疱瘡", "label_en": "Pemphigus vulgaris", "label_hira": "じんじょうせいてんぽうそう", "notification_number": "35", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200232", "id": "NANDO:1200232", "label_ja": "増殖性天疱瘡", "label_en": "Pemphigus vegetans", "label_hira": "ぞうしょくせいてんぽうそう", "notification_number": "35", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200244", "id": "NANDO:1200244", "label_ja": "稽留性肢端皮膚炎の汎発化", "label_en": "Acrodermatitis continua of Hallopeau", "label_hira": "けいりゅうせいしたんひふえんのはんぱつか", "notification_number": "37", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200252", "id": "NANDO:1200252", "label_ja": "高安動脈炎（I型）", "label_en": "Type I Takayasu arteritis", "label_hira": "たかやすどうみゃくえん（1がた）", "notification_number": "40", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200254", "id": "NANDO:1200254", "label_ja": "高安動脈炎（IIb型）", "label_en": "Type II b Takayasu arteritis", "label_hira": "たかやすどうみゃくえん（2びーがた）", "notification_number": "40", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200282", "id": "NANDO:1200282", "label_ja": "成人発症スチル病", "label_en": "Adult-onset Still disease", "label_hira": "せいじんはっしょうすちるびょう", "notification_number": "54", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200306", "id": "NANDO:1200306", "label_ja": "温式自己免疫性溶血性貧血", "label_en": "Warm antibody hemolytic anemia", "label_hira": "おんしきじこめんえきせいようけつせいひんけつ", "notification_number": "61", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200309", "id": "NANDO:1200309", "label_ja": "混合型自己免疫性溶血性貧血", "label_en": "Mixed-type autoimmune hemolytic anemia", "label_hira": "こんごうがたじこめんえきせいようけつせいひんけつ", "notification_number": "61", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100005", "id": "NANDO:1100005", "label_ja": "循環器系疾患", "label_en": "Cardiovascular disease", "label_hira": "じゅんかんきけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_0000001", "id": "NANDO:0000001", "label_ja": "難病", "label_en": "Intractable disease", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_0000002", "id": "NANDO:0000002", "label_ja": "obsolete class", "label_en": "obsolete class", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200322", "id": "NANDO:1200322", "label_ja": "細網異形成症", "label_en": "Reticular dysgenesis", "label_hira": "さいもういけいせいしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200326", "id": "NANDO:1200326", "label_ja": "CD8欠損症", "label_en": "CD8 deficiency", "label_hira": "しーでぃー8けっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200353", "id": "NANDO:1200353", "label_ja": "重症先天性好中球減少症", "label_en": "Severe congenital neutropenia", "label_hira": "じゅうしょうせんてんせいこうちゅうきゅうげんしょうしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200395", "id": "NANDO:1200395", "label_ja": "甲状腺ホルモン不応症", "label_en": "Resistance to thyroid hormone", "label_hira": "こうじょうせんほるもんふおうしょう", "notification_number": "80", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200397", "id": "NANDO:1200397", "label_ja": "リポイド副腎過形成症", "label_en": "Congenital lipoid adrenal hyperplasia", "label_hira": "りぽいどふくじんかけいせいしょう", "notification_number": "81", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200399", "id": "NANDO:1200399", "label_ja": "21-水酸化酵素欠損症", "label_en": "21-Hydroxylase deficiency", "label_hira": "21すいさんかこうそけっそんしょう", "notification_number": "81", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200411", "id": "NANDO:1200411", "label_ja": "アジソン病", "label_en": "Addison's disease", "label_hira": "あじそんびょう", "notification_number": "83", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200417", "id": "NANDO:1200417", "label_ja": "特発性肺線維症", "label_en": "Idiopathic pulmonary fibrosis", "label_hira": "とくはつせいはいせんいしょう", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200418", "id": "NANDO:1200418", "label_ja": "IPF以外の間質性肺炎", "label_en": "Interstitial pneumonia other than IPF", "label_hira": "あいぴーえふいがいのかんしつせいはいえん", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200432", "id": "NANDO:1200432", "label_ja": "網膜色素変性症（孤発型）", "label_en": "Sporadic retinitis pigmentosa", "label_hira": "もうまくしきそへんせいしょう（こはつがた）", "notification_number": "90", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200444", "id": "NANDO:1200444", "label_ja": "クローン病", "label_en": "Crohn's disease", "label_hira": "くろーんびょう", "notification_number": "96", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200450", "id": "NANDO:1200450", "label_ja": "潰瘍性大腸炎（全大腸炎型）", "label_en": "Pan-ulcerative colitis", "label_hira": "かいようせいだいちょうえん（ぜんだいちょうえんがた）", "notification_number": "97", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200454", "id": "NANDO:1200454", "label_ja": "好酸球性消化管疾患", "label_en": "Eosinophilic gastrointestinal disorders", "label_hira": "こうさんきゅうせいしょうかかんしっかん", "notification_number": "98", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200469", "id": "NANDO:1200469", "label_ja": "若年性特発性関節炎", "label_en": "Juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん", "notification_number": "107", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200479", "id": "NANDO:1200479", "label_ja": "セントラルコア病", "label_en": "Central core disease", "label_hira": "せんとらるこあびょう", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200505", "id": "NANDO:1200505", "label_ja": "アトピー性脊髄炎", "label_en": "Atopic myelitis", "label_hira": "あとぴーせいせきずいえん", "notification_number": "116", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200554", "id": "NANDO:1200554", "label_ja": "アレキサンダー病", "label_en": "Alexander disease", "label_hira": "あれきさんだーびょう", "notification_number": "131", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200562", "id": "NANDO:1200562", "label_ja": "アイカルディ症候群", "label_en": "Aicardi syndrome", "label_hira": "あいかるでぃしょうこうぐん", "notification_number": "135", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200564", "id": "NANDO:1200564", "label_ja": "限局性皮質異形成", "label_en": "Focal cortical dysplasia", "label_hira": "げんきょくせいひしついけいせい", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200583", "id": "NANDO:1200583", "label_ja": "小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症", "label_en": "Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum", "label_hira": "しょうのういしゅくとのうりょうていけいせいをともなうびまんせいだいのうはくしつけいせいふぜんしょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200589", "id": "NANDO:1200589", "label_ja": "ミオクロニー欠神てんかん", "label_en": "Myoclonic absence epilepsy", "label_hira": "みおくろにーけっしんてんかん", "notification_number": "142", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200593", "id": "NANDO:1200593", "label_ja": "大田原症候群", "label_en": "Ohtahara syndrome", "label_hira": "おおたはらしょうこうぐん", "notification_number": "146", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200595", "id": "NANDO:1200595", "label_ja": "遊走性焦点発作を伴う乳児てんかん", "label_en": "Epilepsy of infancy with migrating focal seizures", "label_hira": "ゆうそうせいしょうてんほっさをともなうにゅうじてんかん", "notification_number": "148", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200598", "id": "NANDO:1200598", "label_ja": "ラスムッセン脳炎", "label_en": "Rasmussen's encephalitis", "label_hira": "らすむっせんのうえん", "notification_number": "151", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200603", "id": "NANDO:1200603", "label_ja": "レット症候群", "label_en": "Rett syndrome", "label_hira": "れっとしょうこうぐん", "notification_number": "156", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200607", "id": "NANDO:1200607", "label_ja": "結節性硬化症", "label_en": "Tuberous sclerosis complex", "label_hira": "けっせつせいこうかしょう", "notification_number": "158", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200622", "id": "NANDO:1200622", "label_ja": "ドルフマン・シャナリン症候群", "label_en": "Dorfman-Chanarin syndrome", "label_hira": "どるふまん・しゃなりんしょうこうぐん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200647", "id": "NANDO:1200647", "label_ja": "関節型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, hypermobility type", "label_hira": "かんせつがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200624", "id": "NANDO:1200624", "label_ja": "obsolete マルチプルスルファターゼ欠損症", "label_en": "obsolete Multiple sulfatase deficiency", "label_hira": "まるちぷるするふぁたーぜけっそんしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200648", "id": "NANDO:1200648", "label_ja": "血管型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, vascular type", "label_hira": "けっかんがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200665", "id": "NANDO:1200665", "label_ja": "ATR-X症候群", "label_en": "ATR-X syndrome", "label_hira": "えーてぃーあーるえっくすしょうこうぐん", "notification_number": "180", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200674", "id": "NANDO:1200674", "label_ja": "無脾症候群", "label_en": "Asplenia syndrome", "label_hira": "むひしょうこうぐん", "notification_number": "189", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200677", "id": "NANDO:1200677", "label_ja": "コケイン症候群", "label_en": "Cockayne syndrome", "label_hira": "こけいんしょうこうぐん", "notification_number": "192", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200697", "id": "NANDO:1200697", "label_ja": "総動脈幹遺残症IV型", "label_en": "Truncus arteriosus communis type IV", "label_hira": "そうどうみゃくかんいざんしょう4がた", "notification_number": "207", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200721", "id": "NANDO:1200721", "label_ja": "膜性腎症", "label_en": "Membranous nephropathy", "label_hira": "まくせいじんしょう", "notification_number": "222", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200723", "id": "NANDO:1200723", "label_ja": "半月体形成性糸球体腎炎", "label_en": "Crescentic glomerulonephritis", "label_hira": "はんげつたいけいせいせいしきゅうたいじんえん", "notification_number": "222", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200741", "id": "NANDO:1200741", "label_ja": "紫斑病性腎炎", "label_en": "Henoch-Schonlein purpura nephritis", "label_hira": "しはんびょうせいじんえん", "notification_number": "224", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200749", "id": "NANDO:1200749", "label_ja": "続発性肺胞蛋白症", "label_en": "Secondary Pulmonary Alveolar Proteinosis", "label_hira": "ぞくはつせいはいほうたんぱくしょう", "notification_number": "229", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200755", "id": "NANDO:1200755", "label_ja": "α1-アンチトリプシン欠損症", "label_en": "Alpha-1-antitrypsin deficiency", "label_hira": "あるふぁ1あんちとりぷしんけっそんしょう", "notification_number": "231", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200762", "id": "NANDO:1200762", "label_ja": "乳児レフサム病", "label_en": "Infantile Refsum disease", "label_hira": "にゅうじれふさむびょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200770", "id": "NANDO:1200770", "label_ja": "プラスマローゲン合成系酵素欠損症", "label_en": "Plasmalogen biosynthesis enzyme deficiency", "label_hira": "ぷらすまろーげんごうせいけいこうそけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200794", "id": "NANDO:1200794", "label_ja": "コバラミン代謝異常（MCM欠損症）", "label_en": "Methylmalonyl-Coenzyme A mutase deficiency", "label_hira": "こばらみんたいしゃいじょう（えむしーえむけっそんしょう）", "notification_number": "246", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200796", "id": "NANDO:1200796", "label_ja": "コバラミン代謝異常 cblB", "label_en": "Methylmalonic acidemia cblB type", "label_hira": "こばらみんたいしゃいじょう しーびーえるびー", "notification_number": "246", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200843", "id": "NANDO:1200843", "label_ja": "肝型糖原病IIIb型", "label_en": "Hepatic GSD type IIIb", "label_hira": "かんがたとうげんびょう3びーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200846", "id": "NANDO:1200846", "label_ja": "肝型糖原病VI型", "label_en": "Hepatic glycogen storage disease type VI", "label_hira": "かんがたとうげんびょう6がた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200848", "id": "NANDO:1200848", "label_ja": "肝型糖原病IXb型", "label_en": "Hepatic glycogen storage disease type IXb", "label_hira": "かんがたとうげんびょう9びーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200854", "id": "NANDO:1200854", "label_ja": "タンジール病", "label_en": "Tangier disease", "label_hira": "たんじーるびょう", "notification_number": "261", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200860", "id": "NANDO:1200860", "label_ja": "後天性全身性脂肪萎縮症", "label_en": "Acquired generalized lipodystrophy", "label_hira": "こうてんせいぜんしんせいしぼういしゅくしょう", "notification_number": "265", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200889", "id": "NANDO:1200889", "label_ja": "後天性赤芽球癆", "label_en": "Acquired pure red cell aplasia", "label_hira": "こうてんせいせきがきゅうろう", "notification_number": "283", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200894", "id": "NANDO:1200894", "label_ja": "最重症型エプスタイン症候群", "label_en": "Severe Epstein syndrome", "label_hira": "さいじゅうしょうがたえぷすたいんしょうこうぐん", "notification_number": "287", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200897", "id": "NANDO:1200897", "label_ja": "自己免疫性後天性凝固第 XIII/13 因子欠乏症", "label_en": "Autoimmune hemorrhaphilia XIII/13", "label_hira": "じこめんえきせいこうてんせいぎょうこだい13/13いんしけつぼうしょう", "notification_number": "288", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200900", "id": "NANDO:1200900", "label_ja": "自己免疫性後天性凝固第 V/5 因子欠乏症", "label_en": "Acquired factor V inhibitor", "label_hira": "じこめんえきせいこうてんせいぎょうこだい5/5いんしけつぼうしょう", "notification_number": "288", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200901", "id": "NANDO:1200901", "label_ja": "クロンカイト・カナダ症候群", "label_en": "Cronkhite-Canada syndrome", "label_hira": "くろんかいと・かなだしょうこうぐん", "notification_number": "289", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200919", "id": "NANDO:1200919", "label_ja": "アラジール症候群典型例", "label_en": "Typical Alagille syndrome", "label_hira": "あらじーるしょうこうぐんてんけいれい", "notification_number": "297", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200920", "id": "NANDO:1200920", "label_ja": "アラジール症候群非典型例", "label_en": "Atypical Alagille Syndrome", "label_hira": "あらじーるしょうこうぐんひてんけいれい", "notification_number": "297", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200963", "id": "NANDO:1200963", "label_ja": "先天性僧帽弁狭窄症", "label_en": "Congenital mitral stenosis", "label_hira": "せんてんせいそうぼうべんきょうさくしょう", "notification_number": "312", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200971", "id": "NANDO:1200971", "label_ja": "カルニチンパルミトイルトランスフェラーゼII欠損症", "label_en": "Carnitine palmitoyltransferase II deficiency", "label_hira": "かるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "notification_number": "316", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200738", "id": "NANDO:1200738", "label_ja": "obsolete 終末期型膜性増殖性糸球体腎炎", "label_en": "obsolete End-stage membranoproliferative glomerulonephritis type I", "label_hira": "しゅうまつきがたまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200980", "id": "NANDO:1200980", "label_ja": "成人発症II型シトルリン血症", "label_en": "Adult-onset type II citrullinemia", "label_hira": "せいじんはっしょう2がたしとるりんけっしょう", "notification_number": "318", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200984", "id": "NANDO:1200984", "label_ja": "非ケトーシス型高グリシン血症", "label_en": "Nonketotic hyperglycinemia", "label_hira": "ひけとーしすがたこうぐりしんけっしょう", "notification_number": "321", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200995", "id": "NANDO:1200995", "label_ja": "ADA2欠損症", "label_en": "Adenosine deaminase 2 deficiency", "label_hira": "えーでぃーえー2けっそんしょう", "notification_number": "325", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201014", "id": "NANDO:1201014", "label_ja": "慢性関節型成人スチル病", "label_en": "Chronic articular adult onset Still's disease", "label_hira": "まんせいかんせつがたせいじんすちるびょう", "notification_number": "54", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201025", "id": "NANDO:1201025", "label_ja": "多相性慢性炎症性脱髄性多発神経炎", "label_en": "Multifocal chronic inflammatory demyelinating polyneuropathy", "label_hira": "たそうせいまんせいえんしょうせいだつずいせいたはつしんけいえん", "notification_number": "14", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201033", "id": "NANDO:1201033", "label_ja": "アルギニン・グリシンアミジノ基転移酵素欠損症", "label_en": "Arginine:glycine amidinotransferase deficiency", "label_hira": "あるぎにん・ぐりしんあみじのきてんいこうそけっそんしょう", "notification_number": "334", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201036", "id": "NANDO:1201036", "label_ja": "ネフロン癆", "label_en": "Nephronophthisis", "label_hira": "ねふろんろう", "notification_number": "335", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201044", "id": "NANDO:1201044", "label_ja": "進行性家族性肝内胆汁うっ滞症2型", "label_en": "Progressive familial intrahepatic cholestasis type 2", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう2がた", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201054", "id": "NANDO:1201054", "label_ja": "ファーストチャンネル症候群", "label_en": "Fast-channel congenital myasthenic syndrome", "label_hira": "ふぁーすとちゃんねるしょうこうぐん", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201069", "id": "NANDO:1201069", "label_ja": "厚脳回", "label_en": "Pachygyria", "label_hira": "こうのうかい", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201082", "id": "NANDO:1201082", "label_ja": "先天性アンチトロンビン欠乏症", "label_en": "Antithrombin deficiency", "label_hira": "せんてんせいあんちとろんびんけつぼうしょう", "notification_number": "327", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201091", "id": "NANDO:1201091", "label_ja": "歯周型エーラス・ダンロス症候群", "label_en": "Periodontal Ehlers-Danlos syndrome", "label_hira": "ししゅうがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201029", "id": "NANDO:1201029", "label_ja": "obsolete メサンギウム増殖性糸球体腎炎", "label_en": "obsolete Mesangial proliferative glomerulonephritis", "label_hira": "めさんぎうむぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201030", "id": "NANDO:1201030", "label_ja": "obsolete 慢性・びまん型膜性増殖性糸球体腎炎", "label_en": "obsolete Chronic diffuse membranoproliferative glomerulonephritis type I", "label_hira": "まんせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100007", "id": "NANDO:2100007", "label_ja": "中枢神経系腫瘍", "label_en": "Central nervous system tumors", "label_hira": "ちゅうすうしんけいけいしゅよう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100011", "id": "NANDO:2100011", "label_ja": "慢性尿細管間質性腎炎", "label_en": "Chronic tubulointerstitial nephritis (excluding urinary tract malformation)", "label_hira": "まんせいにょうさいかんかんしつせいじんえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100046", "id": "NANDO:2100046", "label_ja": "脚ブロック", "label_en": "Bundle branch block", "label_hira": "きゃくぶろっく", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100054", "id": "NANDO:2100054", "label_ja": "肥大型心筋症", "label_en": "Hypertrophic cardiomyopathy", "label_hira": "ひだいがたしんきんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100065", "id": "NANDO:2100065", "label_ja": "先天性心膜欠損症", "label_en": "Congenital defect of the pericardium", "label_hira": "せんてんせいしんまくけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100077", "id": "NANDO:2100077", "label_ja": "両大血管左室起始症", "label_en": "Double-outlet left ventricle", "label_hira": "りょうだいけっかんさしつきししょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100080", "id": "NANDO:2100080", "label_ja": "エプスタイン病", "label_en": "Ebstein's anomaly", "label_hira": "えぷすたいんびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100095", "id": "NANDO:2100095", "label_ja": "肺動脈弁欠損", "label_en": "Absent pulmonary valve", "label_hira": "はいどうみゃくべんけっそん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100107", "id": "NANDO:2100107", "label_ja": "内臓錯位症候群", "label_en": "Hheterotaxy syndrome", "label_hira": "ないぞうさくいしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100110", "id": "NANDO:2100110", "label_ja": "下垂体機能低下症", "label_en": "Hypopituitarism", "label_hira": "かすいたいきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100134", "id": "NANDO:2100134", "label_ja": "先天性副腎過形成症", "label_en": "Congenital adrenal hyperplasia", "label_hira": "せんてんせいふくじんかけいせいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100144", "id": "NANDO:2100144", "label_ja": "ビタミンD依存性くる病", "label_en": "Vitamin D-dependent rickets", "label_hira": "びたみんでぃーいぞんせいくるびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100145", "id": "NANDO:2100145", "label_ja": "ビタミンD抵抗性骨軟化症", "label_en": "Vitamin D-resistant osteomalacia", "label_hira": "びたみんでぃーていこうせいこつなんかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100158", "id": "NANDO:2100158", "label_ja": "糖尿病", "label_en": "Diabetes", "label_hira": "とうにょうびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100170", "id": "NANDO:2100170", "label_ja": "神経伝達物質異常症", "label_en": "Disorder of neurotransmitter metabolism and transport", "label_hira": "しんけいでんたつぶっしついじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100183", "id": "NANDO:2100183", "label_ja": "遺伝性溶血性貧血", "label_en": "Hereditary hemolytic anemia", "label_hira": "いでんせいようけつせいひんけつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200006", "id": "NANDO:2200006", "label_ja": "成熟を伴う急性骨髄性白血病", "label_en": "Acute myeloid leukemia with maturation", "label_hira": "せいじゅくをともなうきゅうせいこつずいせいはっけつびょう", "notification_number": "78", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200015", "id": "NANDO:2200015", "label_ja": "若年性骨髄単球性白血病", "label_en": "Juvenile myelomonocytic leukemia", "label_hira": "じゃくねんせいこつずいたんきゅうせいはっけつびょう", "notification_number": "76", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200019", "id": "NANDO:2200019", "label_ja": "骨髄異形成症候群", "label_en": "Myelodysplastic syndrome", "label_hira": "こつずいいけいせいしょうこうぐん", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200020", "id": "NANDO:2200020", "label_ja": "成熟B細胞リンパ腫", "label_en": "Mature B-cell lymphoma", "label_hira": "せいじゅくびーさいぼうりんぱしゅ", "notification_number": "86", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200036", "id": "NANDO:2200036", "label_ja": "ランゲルハンス細胞肉腫", "label_en": "Langerhans cell sarcoma", "label_hira": "らんげるはんすさいぼうにくしゅ", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200039", "id": "NANDO:2200039", "label_ja": "ロサイ・ドルフマン病", "label_en": "Rosai-Dorfman disease", "label_hira": "ろさい・どるふまんびょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200052", "id": "NANDO:2200052", "label_ja": "悪性骨巨細胞腫", "label_en": "Malignancy in giant cell tumour of bone", "label_hira": "あくせいこつきょさいぼうしゅ", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200053", "id": "NANDO:2200053", "label_ja": "ユーイング肉腫", "label_en": "Ewing's sarcoma", "label_hira": "ゆーいんぐにくしゅ", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200059", "id": "NANDO:2200059", "label_ja": "線維形成性小円形細胞腫瘍", "label_en": "Desmoplastic small round cell tumors", "label_hira": "せんいけいせいせいしょうえんけいさいぼうしゅよう", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200063", "id": "NANDO:2200063", "label_ja": "胞巣状軟部肉腫", "label_en": "Alveolar soft part sarcoma", "label_hira": "ほうそうじょうなんぶにくしゅ", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200084", "id": "NANDO:2200084", "label_ja": "毛様細胞性星細胞腫", "label_en": "Pilocytic astrocytoma", "label_hira": "もうようさいぼうせいせいさいぼうしゅ", "notification_number": "68", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201284", "id": "NANDO:2201284", "label_ja": "仙尾部奇形腫（Altman I型）", "label_en": "Altman type I sacrococcygeal teratoma", "label_hira": "せんびぶきけいしゅ（あるとまん1がた）", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201288", "id": "NANDO:2201288", "label_ja": "ペリツェウス・メルツバッハ病", "label_en": "Pelizaeus-Merzbacher disease", "label_hira": "ぺりつぇうす・めるつばっはびょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201293", "id": "NANDO:2201293", "label_ja": "Hsp60シャペロン病", "label_en": "Mitochondrial Hsp60 chaperonopathy", "label_hira": "えいちえすぴー60しゃぺろんびょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201296", "id": "NANDO:2201296", "label_ja": "先天性白内障を伴う髄鞘形成不全症", "label_en": "Hypomyelination and congenital cataract", "label_hira": "せんてんせいはくないしょうをともなうずいしょうけいせいふぜんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201318", "id": "NANDO:2201318", "label_ja": "抗VGKC複合体抗体陽性脳炎", "label_en": "Anti-VGKC complex antibody encephalitis", "label_hira": "こうぶいじーけーしーふくごうたいこうたいようせいのうえん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201351", "id": "NANDO:2201351", "label_ja": "脊椎末梢異形成症", "label_en": "Spondyloperipheral dysplasia", "label_hira": "せきついまっしょういけいせいしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201354", "id": "NANDO:2201354", "label_ja": "Stickler症候群1型", "label_en": "Stickler syndrome type 1", "label_hira": "すてぃっくらーしょうこうぐん1がた", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201376", "id": "NANDO:2201376", "label_ja": "筋ジストロフィー合併型表皮水疱症", "label_en": "Epidermolysis bullosa simplex with muscular dystrophy", "label_hira": "きんじすとろふぃーがっぺいがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201389", "id": "NANDO:2201389", "label_ja": "ADTKD-REN", "label_en": "ADTKD-REN", "label_hira": "えーでぃーてぃーけーでぃーあーるいーえぬ", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201390", "id": "NANDO:2201390", "label_ja": "ADTKD-SEC61A1", "label_en": "ADTKD-SEC61A1", "label_hira": "えーでぃーてぃーけーでぃーえすいーしー61えー1", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201398", "id": "NANDO:2201398", "label_ja": "大田原症候群", "label_en": "Ohtahara syndrome", "label_hira": "おおたはらしょうこうぐん", "notification_number": "67", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201405", "id": "NANDO:2201405", "label_ja": "PURA関連神経発達異常症", "label_en": "PURA-related neurodevelopmental disorders", "label_hira": "ぴーゆーあーるえーかんれんしんけいはったついじょうしょう", "notification_number": "76", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201408", "id": "NANDO:2201408", "label_ja": "遊走性焦点発作を伴う乳児てんかん", "label_en": "Epilepsy of infancy with migrating focal seizures", "label_hira": "ゆうそうせいしょうてんほっさをともなうにゅうじてんかん", "notification_number": "79", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201426", "id": "NANDO:2201426", "label_ja": "タナトフォリック骨異形成症", "label_en": "Thanatophoric dysplasia", "label_hira": "たなとふぉりっくこついけいせいしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201432", "id": "NANDO:2201432", "label_ja": "脊髄性筋萎縮症III型", "label_en": "Spinal muscular atrophy type III", "label_hira": "せきずいせいきんいしゅくしょう3がた", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201438", "id": "NANDO:2201438", "label_ja": "進行性家族性肝内胆汁うっ滞症3型", "label_en": "Progressive familial intrahepatic cholestasis type 3", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう3がた", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201444", "id": "NANDO:2201444", "label_ja": "先天性全身性脂肪萎縮症", "label_en": "Generalized congenital lipodystrophy", "label_hira": "せんてんせいぜんしんせいしぼういしゅくしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201467", "id": "NANDO:2201467", "label_ja": "小腸型ヒルシュスプルング病", "label_en": "Extensive aganglionosis Hirschsprung disease", "label_hira": "しょうちょうがたひるしゅすぷるんぐびょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201484", "id": "NANDO:2201484", "label_ja": "動脈硬化性萎縮腎", "label_en": "Arteriosclerotic contracted kidney", "label_hira": "どうみゃくこうかせいいしゅくじん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_3000001", "id": "NANDO:3000001", "label_ja": "筋力低下群", "label_en": "Muscle weakness group", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_3000004", "id": "NANDO:3000004", "label_ja": "心筋症群（主として成人発症もの）", "label_en": "Cardiomyopathy group (mainly adult onset)", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201112", "id": "NANDO:1201112", "label_ja": "出血性線溶異常症", "label_en": "Bleeding disorder with abnormal fibrinolysis", "label_hira": "しゅっけつせいせんよういじょうしょう", "notification_number": "347", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201114", "id": "NANDO:1201114", "label_ja": "α2-PI 欠乏症", "label_en": "α2-plasmin inhibitor deficiency", "label_hira": "あるふぁー2-ぷらすみんいんひびたーけつぼうしょう", "notification_number": "347", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201505", "id": "NANDO:2201505", "label_ja": "限局性皮質異形成タイプ3b", "label_en": "Focal cortical dysplasia type 3b", "label_hira": "げんきょくせいひしついけいせいたいぷ3びー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201506", "id": "NANDO:2201506", "label_ja": "限局性皮質異形成タイプ3c", "label_en": "Focal cortical dysplasia type 3c", "label_hira": "げんきょくせいひしついけいせいたいぷ3しー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201515", "id": "NANDO:2201515", "label_ja": "遺伝性低カリウム性周期性四肢麻痺", "label_en": "Hereditary hypokalemic periodic paralysis", "label_hira": "いでんせいていかりうむせいしゅうきせいししまひ", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201518", "id": "NANDO:2201518", "label_ja": "先天性食道閉鎖症 Gross A型", "label_en": "Congenital esophageal atresia Gross type A", "label_hira": "せんてんせいしょくどうへいさしょう ぐろすえーがた", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201519", "id": "NANDO:2201519", "label_ja": "先天性食道閉鎖症 Gross B型", "label_en": "Congenital esophageal atresia Gross type B", "label_hira": "せんてんせいしょくどうへいさしょう ぐろすびーがた", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201520", "id": "NANDO:2201520", "label_ja": "先天性食道閉鎖症 Gross C型", "label_en": "Congenital esophageal atresia Gross type C", "label_hira": "せんてんせいしょくどうへいさしょう ぐろすしーがた", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201525", "id": "NANDO:2201525", "label_ja": "シャーフ・ヤング症候群", "label_en": "Schaaf-Yang syndrome", "label_hira": "しゃーふ・やんぐ しょうこうぐん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201118", "id": "NANDO:1201118", "label_ja": "線条体黒質変性症", "label_en": "striatonigral degeneration", "label_hira": "せんじょうたいこくしつへんせいしょう", "notification_number": "17", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201170", "id": "NANDO:1201170", "label_ja": "隣接ABCD1/DXS1357E欠失症候群", "label_en": "Contiguous ABCD1/DXS1357E deletion syndrome", "label_hira": "りんせつえーびーしーでぃー1/でぃーえっくすえす1357いーけっしつしょうこうぐん", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201171", "id": "NANDO:1201171", "label_ja": "グルタル酸血症2型新生児期発症型", "label_en": "neonatal-onset form with congenital anomalies Glutaric acidaemia type 2", "label_hira": "ぐるたるさんけっしょう2がたしんせいじきはっしょうがた", "notification_number": "250", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200058", "id": "NANDO:2200058", "label_ja": "未分化肉腫", "label_en": "Undifferentiated sarcoma", "label_hira": "みぶんかにくしゅ", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200060", "id": "NANDO:2200060", "label_ja": "線維肉腫", "label_en": "Fibrosarcoma", "label_hira": "せんいにくしゅ", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200065", "id": "NANDO:2200065", "label_ja": "脂肪肉腫", "label_en": "Liposarcoma", "label_hira": "しぼうにくしゅ", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200072", "id": "NANDO:2200072", "label_ja": "性索間質性腫瘍", "label_en": "Sex-cord stromal tumour", "label_hira": "せいさくかんしつせいしゅよう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200090", "id": "NANDO:2200090", "label_ja": "髄芽腫", "label_en": "Medulloblastoma", "label_hira": "ずいがしゅ", "notification_number": "58", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200091", "id": "NANDO:2200091", "label_ja": "頭蓋咽頭腫", "label_en": "Craniopharyngioma", "label_hira": "ずがいいんとうしゅ", "notification_number": "60", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200094", "id": "NANDO:2200094", "label_ja": "髄膜腫", "label_en": "Meningioma", "label_hira": "ずいまくしゅ", "notification_number": "59", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200098", "id": "NANDO:2200098", "label_ja": "脊索腫", "label_en": "Chordoma", "label_hira": "せきさくしゅ", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200102", "id": "NANDO:2200102", "label_ja": "悪性神経鞘腫", "label_en": "Malignant neurinoma", "label_hira": "あくせいしんけいしょうしゅ", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200106", "id": "NANDO:2200106", "label_ja": "未成熟奇形腫", "label_en": "Immature teratoma", "label_hira": "みせいじゅくきけいしゅ", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200129", "id": "NANDO:2200129", "label_ja": "急速進行性糸球体腎炎（顕微鏡的多発血管炎によるものに限る。）", "label_en": "Rapidly progressive glomerulonephritis due to microscopic poly-angitis", "label_hira": "きゅうそくしんこうせいしきゅうたいじんえん（けんびきょうてきたはつけっかんえんによるものにかぎる。）", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200150", "id": "NANDO:2200150", "label_ja": "慢性腎不全（急性尿細管壊死によるものに限る。）", "label_en": "Chronic renal failure due to acute tubular necrosis", "label_hira": "まんせいじんふぜん（きゅうせいにょうさいかんえしによるものにかぎる。）", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200167", "id": "NANDO:2200167", "label_ja": "交差性融合腎", "label_en": "Crossed fused kidney", "label_hira": "こうさせいゆうごうじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200178", "id": "NANDO:2200178", "label_ja": "閉塞性尿路疾患", "label_en": "Obstructive uropathy", "label_hira": "へいそくせいにょうろしっかん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200179", "id": "NANDO:2200179", "label_ja": "膀胱尿管逆流", "label_en": "Vesicoureteral reflux", "label_hira": "ぼうこうにょうかんぎゃくりゅう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200214", "id": "NANDO:2200214", "label_ja": "完全房室ブロック", "label_en": "Complete atrio-ventricular block", "label_hira": "かんぜんぼうしつぶろっく", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200227", "id": "NANDO:2200227", "label_ja": "心室細動", "label_en": "Ventricular fibrillation", "label_hira": "しんしつさいどう", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100200", "id": "NANDO:2100200", "label_ja": "骨髄線維症", "label_en": "Myelofibrosis", "label_hira": "こつずいせんいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100221", "id": "NANDO:2100221", "label_ja": "早老症", "label_en": "Progeroid syndromes", "label_hira": "そうろうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100226", "id": "NANDO:2100226", "label_ja": "脳クレアチン欠乏症候群", "label_en": "Cerebral creatine deficiency syndromes", "label_hira": "のうくれあちんけつぼうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100237", "id": "NANDO:2100237", "label_ja": "進行性ミオクローヌスてんかん", "label_en": "Progressive myoclonus epilepsy", "label_hira": "しんこうせいみおくろーぬすてんかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100250", "id": "NANDO:2100250", "label_ja": "多発性硬化症", "label_en": "Multiple sclerosis", "label_hira": "たはつせいこうかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100259", "id": "NANDO:2100259", "label_ja": "炎症性腸疾患", "label_en": "Inflammatory bowel disease", "label_hira": "えんしょうせいちょうしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100262", "id": "NANDO:2100262", "label_ja": "急性肝不全（昏睡型）", "label_en": "Acute liver failure with hepatic coma", "label_hira": "きゅうせいかんふぜん（こんすいがた）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100272", "id": "NANDO:2100272", "label_ja": "クリグラー・ナジャー症候群", "label_en": "Crigler-Najjar syndrome", "label_hira": "くりぐらー・なじゃーしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100293", "id": "NANDO:2100293", "label_ja": "骨系統疾患", "label_en": "Bone disease", "label_hira": "こつけいとうしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100294", "id": "NANDO:2100294", "label_ja": "脈管系疾患", "label_en": "Vascular disease", "label_hira": "みゃっかんけい/みゃくかんけいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200252", "id": "NANDO:2200252", "label_ja": "心室中隔欠損を伴う肺動脈閉鎖症", "label_en": "Pulmonary atresia with ventricular septal defect", "label_hira": "しんしつちゅうかくけっそんをともなうはいどうみゃくへいさしょう", "notification_number": "84", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200290", "id": "NANDO:2200290", "label_ja": "重複大動脈弓症", "label_en": "Double aortic arch disease", "label_hira": "じゅうふくだいどうみゃくきゅうしょう", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200297", "id": "NANDO:2200297", "label_ja": "82及び83に掲げるもののほか、動静脈瘻", "label_en": "Other arteriovenous fistulae", "label_hira": "82および83にかかげるもののほか、どうじょうみゃくろう", "notification_number": "71", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200302", "id": "NANDO:2200302", "label_ja": "僧帽弁狭窄症", "label_en": "Mitral valve stenosis", "label_hira": "そうぼうべんきょうさくしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200324", "id": "NANDO:2200324", "label_ja": "中枢性尿崩症", "label_en": "Central diabetes insipidus", "label_hira": "ちゅうすうせいにょうほうしょう", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200352", "id": "NANDO:2200352", "label_ja": "副腎腺腫", "label_en": "Adrenal adenoma", "label_hira": "ふくじんせんしゅ", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200353", "id": "NANDO:2200353", "label_ja": "副腎皮質結節性過形成", "label_en": "ACTH-independent macronodular adrenal hyperplasia", "label_hira": "ふくじんひしつけっせつせいかけいせい", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200354", "id": "NANDO:2200354", "label_ja": "33から36までに掲げるもののほか、クッシング症候群", "label_en": "Other Cushing syndrome", "label_hira": "33から36までにかかげるもののほか、くっしんぐしょうこうぐん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200361", "id": "NANDO:2200361", "label_ja": "アルドステロン症", "label_en": "Aldosteronism", "label_hira": "あるどすてろんしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200364", "id": "NANDO:2200364", "label_ja": "低レニン性低アルドステロン症", "label_en": "Hyporeninemic hypoaldosteronism", "label_hira": "ていれにんせいていあるどすてろんしょう", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200378", "id": "NANDO:2200378", "label_ja": "ゴナドトロピン非依存性思春期早発症", "label_en": "Non-gonadotropin-dependent precocious puberty", "label_hira": "ごなどとろぴんひいぞんせいししゅんきそうはつしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200405", "id": "NANDO:2200405", "label_ja": "多発性内分泌腫瘍1型", "label_en": "Multiple endocrine neoplasia type 1", "label_hira": "たはつせいないぶんぴつしゅよう1がた", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200414", "id": "NANDO:2200414", "label_ja": "バルデー・ビードル症候群", "label_en": "Bardet-Biedl syndrome", "label_hira": "ばるでー・びーどるしょうこうぐん", "notification_number": "90", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200418", "id": "NANDO:2200418", "label_ja": "若年性皮膚筋炎", "label_en": "Juvenile dermatomyositis", "label_hira": "じゃくねんせいひふきんえん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200421", "id": "NANDO:2200421", "label_ja": "抗リン脂質抗体症候群", "label_en": "Anti-phospholipid antibody syndrome", "label_hira": "こうりんししつこうたいしょうこうぐん", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200427", "id": "NANDO:2200427", "label_ja": "好酸球性多発血管炎性肉芽腫症", "label_en": "Eosinophilic granulomatosis with polyangiitis", "label_hira": "こうさんきゅうせいたはつけっかんえんせいにくげしゅしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200437", "id": "NANDO:2200437", "label_ja": "化膿性無菌性関節炎・壊疽性膿皮症・アクネ症候群", "label_en": "Pyogenic arthritis, pyoderma gangrenosum, acne syndrome", "label_hira": "かのうせいむきんせいかんせつえん・えそせいのうひしょう・あくねしょうこうぐん", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200440", "id": "NANDO:2200440", "label_ja": "15から24までに掲げるもののほか、自己炎症性疾患", "label_en": "Other autoinflammatory diseases", "label_hira": "15から24までにかかげるもののほか、じこえんしょうせいしっかん", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200447", "id": "NANDO:2200447", "label_ja": "IL-10RA欠損症", "label_en": "IL-10RA deficiency", "label_hira": "あいえる10あーるえーけっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200459", "id": "NANDO:2200459", "label_ja": "NLRC4異常症", "label_en": "NLRC4 mutation", "label_hira": "えぬえるあーるしー4いじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200474", "id": "NANDO:2200474", "label_ja": "ホモシスチン尿症", "label_en": "Homocystinuria", "label_hira": "ほもしすちんにょうしょう", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200477", "id": "NANDO:2200477", "label_ja": "N-アセチルグルタミン酸合成酵素欠損症", "label_en": "N-acetylglutamate synthetase deficiency", "label_hira": "えぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200481", "id": "NANDO:2200481", "label_ja": "アルギニノコハク酸尿症", "label_en": "Argininosuccinic aciduria", "label_hira": "あるぎにのこはくさんにょうしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200486", "id": "NANDO:2200486", "label_ja": "脳回転状脈絡膜網膜萎縮症を伴う高オルニチン血症", "label_en": "Gyrate atrophy of choroid and retina", "label_hira": "のうかいてんじょうみゃくらくまくもうまくいしゅくしょうをともなうこうおるにちんけっしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200501", "id": "NANDO:2200501", "label_ja": "グルタル酸血症1型", "label_en": "Glutaric acidemia type 1", "label_hira": "ぐるたるさんけつしょう1がた", "notification_number": "97", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200510", "id": "NANDO:2200510", "label_ja": "カルニチンパルミトイルトランスフェラーゼII欠損症", "label_en": "Carnitine palmitoyltransferase II deficiency", "label_hira": "かるにちんぱるみといるとらんすふぇらーぜ2けっそんしょう", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200526", "id": "NANDO:2200526", "label_ja": "赤色ぼろ線維・ミオクローヌスてんかん症候群", "label_en": "Myoclonus epilepsy associated with ragged-red fibers", "label_hira": "せきしょくぼろせんい・みおくろーぬすてんかんしょうこうぐん", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200527", "id": "NANDO:2200527", "label_ja": "リー症候群", "label_en": "Leigh syndrome", "label_hira": "りーしょうこうぐん", "notification_number": "92", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200531", "id": "NANDO:2200531", "label_ja": "遺伝性フルクトース不耐症", "label_en": "Hereditary fructose intolerance", "label_hira": "いでんせいふるくとーすふたいしょう", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200536", "id": "NANDO:2200536", "label_ja": "ホスホエノールピルビン酸カルボキシキナーゼ欠損症", "label_en": "Phosphoenolpyruvate carboxykinase deficiency", "label_hira": "ほすほえのーるぴるびんさんかるぼきしきなーぜけっそんしょう", "notification_number": "71", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200546", "id": "NANDO:2200546", "label_ja": "59から73までに掲げるもののほか、糖質代謝異常症", "label_en": "Other disorders of carbohydrate metabolism", "label_hira": "59から73までにかかげるもののほか、とうしつたいしゃいじょうしょう", "notification_number": "72", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200552", "id": "NANDO:2200552", "label_ja": "ムコ多糖症VII型", "label_en": "Mucopolysaccharidosis type VII", "label_hira": "むこたとうしょう7がた", "notification_number": "134", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200553", "id": "NANDO:2200553", "label_ja": "フコシドーシス", "label_en": "Fucosidosis", "label_hira": "ふこしどーしす", "notification_number": "125", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200558", "id": "NANDO:2200558", "label_ja": "GM1ガングリオシドーシス", "label_en": "GM1 Gangliosidosis", "label_hira": "じーえむ1がんぐりおしどーしす", "notification_number": "118", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200408", "id": "NANDO:2200408", "label_ja": "obsolete Von Hippel-Lindau病", "label_en": "obsolete Von Hippel-Lindau disease", "label_hira": "ふぉんひっぺるりんどうびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200569", "id": "NANDO:2200569", "label_ja": "ポンペ病", "label_en": "Pompe disease", "label_hira": "ぽんぺびょう", "notification_number": "126", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200648", "id": "NANDO:2200648", "label_ja": "ヘパリン起因性血小板減少症", "label_en": "Heparin-induced thrombocytopenia", "label_hira": "へぱりんきいんせいけっしょうばんげんしょうしょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200655", "id": "NANDO:2200655", "label_ja": "本態性血小板血症", "label_en": "Essential thrombocythemia", "label_hira": "ほんたいせいけっしょうばんけっしょう", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200675", "id": "NANDO:2200675", "label_ja": "第VII因子欠乏症", "label_en": "Factor VII deficiency", "label_hira": "だい7いんしけつぼうしょう", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200680", "id": "NANDO:2200680", "label_ja": "第XII因子欠乏症", "label_en": "Factor XII deficiency", "label_hira": "だい12いんしけつぼうしょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200690", "id": "NANDO:2200690", "label_ja": "先天性プロテインS欠乏症", "label_en": "Protein S deficiency", "label_hira": "せんてんせいぷろていんえすけつぼうしょう", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200703", "id": "NANDO:2200703", "label_ja": "1から9までに掲げるもののほか、複合免疫不全症", "label_en": "Other combined immunodeficiencies", "label_hira": "1から9までにかかげるもののほか、ふくごうめんえきふぜんしょう", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200705", "id": "NANDO:2200705", "label_ja": "毛細血管拡張性運動失調症", "label_en": "Ataxia telangiectasia", "label_hira": "もうさいけっかんかくちょうせいうんどうしっちょうしょう", "notification_number": "55", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200719", "id": "NANDO:2200719", "label_ja": "IgGサブクラス欠損症", "label_en": "Isolated IgG subclass deficiency", "label_hira": "あいじーじーさぶくらすけっそんしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200725", "id": "NANDO:2200725", "label_ja": "X連鎖リンパ増殖症候群", "label_en": "X-linked lymphoproliferative syndrome", "label_hira": "えっくすれんさりんぱぞうしょくしょうこうぐん", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200726", "id": "NANDO:2200726", "label_ja": "自己免疫性リンパ増殖症候群", "label_en": "Autoimmune lymphoproliferative syndrome", "label_hira": "じこめんえきせいりんぱぞうしょくしょうこうぐん", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200728", "id": "NANDO:2200728", "label_ja": "パーフォリン欠損症", "label_en": "Perforin deficiency", "label_hira": "ぱーふぉりんけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200735", "id": "NANDO:2200735", "label_ja": "CD27欠損症", "label_en": "CD27 deficiency", "label_hira": "しーでぃー27けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200738", "id": "NANDO:2200738", "label_ja": "自己免疫性多腺性内分泌不全症", "label_en": "Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", "label_hira": "じこめんえきせいたせんせいないぶんぴつふぜんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200740", "id": "NANDO:2200740", "label_ja": "カスペース8欠損症", "label_en": "Caspase-8 deficiency", "label_hira": "かすぺーす8けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200744", "id": "NANDO:2200744", "label_ja": "SPENCDI", "label_en": "Spondylo enchondro-dysplasiawith immune dysregulation", "label_hira": "えすぴーいーえぬしーでぃーあい", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200758", "id": "NANDO:2200758", "label_ja": "ミエロペルオキシダーゼ欠損症", "label_en": "Myeloperoxidase deficiency", "label_hira": "みえろぺるおきしだーぜけっそんしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200769", "id": "NANDO:2200769", "label_ja": "重症ウイルス感染症", "label_en": "severe viral infection", "label_hira": "じゅうしょうういるすかんせんしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200772", "id": "NANDO:2200772", "label_ja": "単純ヘルペス脳炎", "label_en": "Herpes simplex encephalitis", "label_hira": "たんじゅんへるぺすのうえん", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200786", "id": "NANDO:2200786", "label_ja": "C8 欠損症", "label_en": "C8 deficiency", "label_hira": "しー8けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200809", "id": "NANDO:2200809", "label_ja": "後天性免疫不全症候群", "label_en": "Acquired immune deficiency syndrome", "label_hira": "こうてんせいめんえきふぜんしょうこうぐん", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200816", "id": "NANDO:2200816", "label_ja": "仙尾部奇形腫", "label_en": "Sacrococcygeal teratoma", "label_hira": "せんびぶきけいしゅ", "notification_number": "57", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200827", "id": "NANDO:2200827", "label_ja": "神経皮膚黒色症", "label_en": "Neurocutaneous melanosis", "label_hira": "しんけいひふこくしょくしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200833", "id": "NANDO:2200833", "label_ja": "ハッチンソン・ギルフォード症候群", "label_en": "Hutchinson-Gilford syndrome", "label_hira": "はっちんそん・ぎるふぉーどしょうこうぐん", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200836", "id": "NANDO:2200836", "label_ja": "先天性大脳白質形成不全症", "label_en": "Congenital hypomyelinating leukodystrophy", "label_hira": "せんてんせいだいのうはくしつけいせいふぜんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200841", "id": "NANDO:2200841", "label_ja": "先天性グリコシルホスファチジルイノシトール欠損症", "label_en": "Inherited glycosylphosphatidylinositol deficiency", "label_hira": "せんてんせいぐりこしるほすふぁちじるいのしとーるけっそんしょう", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200845", "id": "NANDO:2200845", "label_ja": "クルーゾン病", "label_en": "Crouzon disease", "label_hira": "くるーぞんびょう", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200857", "id": "NANDO:2200857", "label_ja": "エメリー・ドレイフス型筋ジストロフィー", "label_en": "Emery-Dreifuss muscular dystrophy", "label_hira": "えめりー・どれいふすがたきんじすとろふぃー", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200866", "id": "NANDO:2200866", "label_ja": "LMNA遺伝子変異型筋ジストロフィー", "label_en": "LMNA-related congenital muscular dystrophy", "label_hira": "えるえむえぬえーいでんしへんいがたきんじすとろふぃー", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200872", "id": "NANDO:2200872", "label_ja": "ミニコア病", "label_en": "Minicore myopathy", "label_hira": "みにこあびょう", "notification_number": "55", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200886", "id": "NANDO:2200886", "label_ja": "パントテン酸キナーゼ関連神経変性症", "label_en": "Pantothenate kinase-associated neurodegeneration", "label_hira": "ぱんとてんさんきなーぜかんれんしんけいへんせいしょう", "notification_number": "97", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200887", "id": "NANDO:2200887", "label_ja": "乳児神経軸索ジストロフィー", "label_en": "Infantile neuroaxonal dystrophy", "label_hira": "にゅうじしんけいじくさくじすとろふぃー", "notification_number": "96", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200889", "id": "NANDO:2200889", "label_ja": "先天性ヘルペスウイルス感染症", "label_en": "Congenital herpes simplex virus infection", "label_hira": "せんてんせいへるぺすういるすかんせんしょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200892", "id": "NANDO:2200892", "label_ja": "先天性トキソプラズマ感染症", "label_en": "Congenital toxoplasmosis", "label_hira": "せんてんせいときそぷらずまかんせんしょう", "notification_number": "45", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200632", "id": "NANDO:2200632", "label_ja": "Classic hereditary Xerocytosis", "label_en": "Classic hereditary xerocytosis", "label_hira": "", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200908", "id": "NANDO:2200908", "label_ja": "ショ糖イソ麦芽糖分解酵素欠損症", "label_en": "Congenital sucrase-isomaltase deficiency", "label_hira": "しょとういそばくがとうぶんかいこうそけっそんしょう", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200922", "id": "NANDO:2200922", "label_ja": "早期発症型炎症性腸疾患", "label_en": "Early-onset inflammatory bowel disease", "label_hira": "そうきはっしょうがたえんしょうせいちょうしっかん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200924", "id": "NANDO:2200924", "label_ja": "IPEX症候群", "label_en": "IPEX syndrome", "label_hira": "あいぺっくすしょうこうぐん", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200960", "id": "NANDO:2200960", "label_ja": "アンジェルマン症候群", "label_en": "Angelman syndrome", "label_hira": "あんじぇるまんしょうこうぐん", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200972", "id": "NANDO:2200972", "label_ja": "チャージ症候群", "label_en": "CHARGE syndrome", "label_hira": "ちゃーじしょうこうぐん", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200974", "id": "NANDO:2200974", "label_ja": "色素失調症", "label_en": "Incontinentia pigmenti", "label_hira": "しきそしっちょうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200978", "id": "NANDO:2200978", "label_ja": "シンプソン・ゴラビ・ベーメル症候群", "label_en": "Simpson-Golabi-Behmel syndrome", "label_hira": "しんぷそん・ごらび・べーめるしょうこうぐん", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200982", "id": "NANDO:2200982", "label_ja": "ヤング・シンプソン症候群", "label_en": "Young-Simpson syndrome", "label_hira": "やんぐ・しんぷそんしょうこうぐん", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200986", "id": "NANDO:2200986", "label_ja": "眼皮膚白皮症", "label_en": "Oculocutaneous albinism", "label_hira": "がんひふはくひしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200991", "id": "NANDO:2200991", "label_ja": "常染色体劣性遺伝性魚鱗癬", "label_en": "Autosomal recessive congenital ichthyosis", "label_hira": "じょうせんしょくたいれっせいいでんせいぎょりんせん", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200993", "id": "NANDO:2200993", "label_ja": "ネザートン症候群", "label_en": "Netherton syndrome", "label_hira": "ねざーとんしょうこうぐん", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200996", "id": "NANDO:2200996", "label_ja": "KID症候群", "label_en": "Keratitis-ichthyosis-deafness syndrome", "label_hira": "けーあいでぃーしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200999", "id": "NANDO:2200999", "label_ja": "IFAP症候群", "label_en": "Ichthyosis-follicularis-atrichia-photophobia syndrome", "label_hira": "あいえふえーぴーしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201002", "id": "NANDO:2201002", "label_ja": "色素性乾皮症", "label_en": "Xeroderma pigmentosum", "label_hira": "しきそせいかんぴしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201011", "id": "NANDO:2201011", "label_ja": "骨形成不全症", "label_en": "Osteogenesis imperfecta", "label_hira": "こつけいせいふぜんしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201020", "id": "NANDO:2201020", "label_ja": "進行性骨化性線維異形成症", "label_en": "Fibrodysplasia ossificans progressiva", "label_hira": "しんこうせいこっかせいせんいいけいせいしょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201034", "id": "NANDO:2201034", "label_ja": "遺伝性出血性末梢血管拡張症", "label_en": "Hereditary hemorrhagic telangiectasia", "label_hira": "いでんせいしゅっけつせいまっしょうけっかんかくちょうしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201050", "id": "NANDO:2201050", "label_ja": "家族性中枢性尿崩症", "label_en": "Familial central diabetes insipidus", "label_hira": "かぞくせいちゅうすうせいにょうほうしょう", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201063", "id": "NANDO:2201063", "label_ja": "異型大動脈縮窄型高安動脈炎", "label_en": "Atypical coarctation type Takayasu arteritis", "label_hira": "いけいだいどうみゃくきょうさくがたたかやすどうみゃくえん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201065", "id": "NANDO:2201065", "label_ja": "拡張型高安動脈炎", "label_en": "Dilated type Takayasu arteritis", "label_hira": "かくちょうがたたかやすどうみゃくえん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201119", "id": "NANDO:2201119", "label_ja": "発症前型3-ヒドロキシ-3-メチルグルタル酸血症", "label_en": "Presymptomatic 3-hydroxy-3-methylglutaric acidemia", "label_hira": "はっしょうまえがた3ひどろきし3めちるぐるたるさんけっしょう", "notification_number": "102", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201122", "id": "NANDO:2201122", "label_ja": "急性発症型複合カルボキシラーゼ欠損症", "label_en": "Acute-onset multiple carboxylase deficiency", "label_hira": "きゅうせいはっしょうがたふくごうかるぼきしらーぜけっそんしょう", "notification_number": "105", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201151", "id": "NANDO:2201151", "label_ja": "糖原病0a型", "label_en": "Glycogen storage disease type 0a", "label_hira": "とうげんびょう0えーがた", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201197", "id": "NANDO:2201197", "label_ja": "若年型GM1-ガングリオシドーシス", "label_en": "GM1 gangliosidosis, juvenile form", "label_hira": "じゃくねんがたじーえむ1がんぐりおしどーしす", "notification_number": "118", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201216", "id": "NANDO:2201216", "label_ja": "乳児型クラッベ病", "label_en": "Infantile Krabbe disease", "label_hira": "にゅうじがたくらっべびょう", "notification_number": "114", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201252", "id": "NANDO:2201252", "label_ja": "副腎白質ジストロフィー（女性発症者）", "label_en": "Female adrenoleukodystrophy", "label_hira": "ふくじんはくしつじすとろふぃー（じょせいはっしょうしゃ）", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201258", "id": "NANDO:2201258", "label_ja": "血管型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, vascular type", "label_hira": "けっかんがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201259", "id": "NANDO:2201259", "label_ja": "後側彎型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, kyphoscoliotic type", "label_hira": "こうそくわんがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201263", "id": "NANDO:2201263", "label_ja": "急性間欠性ポルフィリン症", "label_en": "Acute intermittent porphyria", "label_hira": "きゅうせいかんけつせいぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201274", "id": "NANDO:2201274", "label_ja": "β - サラセミア", "label_en": "β-thalassemia", "label_hira": "べーたさらせみあ", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200031", "id": "NANDO:1200031", "label_ja": "多巣性運動ニューロパチー", "label_en": "Multifocal motor neuropathy", "label_hira": "たそうせいうんどうにゅーろぱちー", "notification_number": "14", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200060", "id": "NANDO:1200060", "label_ja": "ニーマン・ピック病A、B型/酸性スフィンゴミエリナーゼ欠損症", "label_en": "Niemann-Pick disease types A and B/Acid sphingomyelinase deficiency", "label_hira": "にーまん・ぴっくびょうえー、びーがた/さんせいすふぃんごみえりなーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200068", "id": "NANDO:1200068", "label_ja": "若年型GM1-ガングリオシドーシス", "label_en": "Juvenile GM1 gangliosidosis", "label_hira": "じゃくねんがたじーえむ1がんぐりおしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200070", "id": "NANDO:1200070", "label_ja": "GM2ガングリオシドーシス", "label_en": "GM2 gangliosidosis", "label_hira": "じーえむ2がんぐりおしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200071", "id": "NANDO:1200071", "label_ja": "Tay-Sachs病", "label_en": "Tay-Sachs disease", "label_hira": "ていさっくすびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200077", "id": "NANDO:1200077", "label_ja": "成人型クラッベ病", "label_en": "Adult Krabbe disease", "label_hira": "せいじんがたくらっべびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200088", "id": "NANDO:1200088", "label_ja": "中間型ファーバー病", "label_en": "Type 2 Farber disease", "label_hira": "ちゅうかんがたふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200092", "id": "NANDO:1200092", "label_ja": "サンドホフ病合併型ファーバー病", "label_en": "Type 6 Farber disease", "label_hira": "さんどほふびょうがっぺいがたふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200093", "id": "NANDO:1200093", "label_ja": "ファーバー病（プロサポシン欠損型）", "label_en": "Type 7 Farber disease", "label_hira": "ふぁーばーびょう（ぷろさぽしんけっそんがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200126", "id": "NANDO:1200126", "label_ja": "α-マンノシドーシス", "label_en": "Alpha-mannosidosis", "label_hira": "あるふぁまんのしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200128", "id": "NANDO:1200128", "label_ja": "若年成人型α - マンノシドーシス", "label_en": "Alpha-mannosidosis, adult form", "label_hira": "じゃくねんせいじんがたあるふぁまんのしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200150", "id": "NANDO:1200150", "label_ja": "セロイドリポフスチノーシス", "label_en": "Neuronal ceroid-lipofuscinosis", "label_hira": "せろいどりぽふすちのーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200173", "id": "NANDO:1200173", "label_ja": "ミトコンドリア病", "label_en": "Mitochondrial diseases", "label_hira": "みとこんどりあびょう", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200189", "id": "NANDO:1200189", "label_ja": "家族性クロイツフェルト・ヤコブ病", "label_en": "Familial Creutzfeldt-Jakob disease", "label_hira": "かぞくせいくろいつふぇると・やこぶびょう", "notification_number": "23", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200199", "id": "NANDO:1200199", "label_ja": "緩徐進行型亜急性硬化性全脳炎", "label_en": "Slowly progressive subacute sclerosing panencephalitis", "label_hira": "かんじょしんこうがたあきゅうせいこうかせいぜんのうえん", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200201", "id": "NANDO:1200201", "label_ja": "亜急性硬化性全脳炎（非典型）", "label_en": "Atypical subacute sclerosing panencephalitis", "label_hira": "あきゅうせいこうかせいぜんのうえん（ひてんけい）", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200203", "id": "NANDO:1200203", "label_ja": "亜急性硬化性全脳炎（Jabbour分類の I 期が遷延する例）", "label_en": "Subacute sclerosing panencephalitis with prolonged Jabbour's clinical stage I", "label_hira": "あきゅうせいこうかせいぜんのうえん（じゃばーぶんるいの1きがせんえんするれい）", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200218", "id": "NANDO:1200218", "label_ja": "縁取り空胞を伴う遠位型ミオパチー", "label_en": "Distal myopathy with rimmed vacuoles", "label_hira": "ふちどりくうほうをともなうえんいがたみおぱちー", "notification_number": "30", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200238", "id": "NANDO:1200238", "label_ja": "劣性栄養障害型表皮水疱症", "label_en": "Recessive dystrophic epidermolysis bullosa", "label_hira": "れっせいえいようしょうがいがたひょうひすいほうしょう", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200240", "id": "NANDO:1200240", "label_ja": "膿疱性乾癬（汎発型）", "label_en": "Pustular psoriasis", "label_hira": "のうほうせいかんせん（はんぱつがた）", "notification_number": "37", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200243", "id": "NANDO:1200243", "label_ja": "疱疹状膿痂疹", "label_en": "Impetigo herpetiformis", "label_hira": "ほうしんじょうのうかしん", "notification_number": "37", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200245", "id": "NANDO:1200245", "label_ja": "スティーヴンス・ジョンソン症候群", "label_en": "Stevens-Johnson syndrome", "label_hira": "すてぃーぶんす・じょんそんしょうこうぐん", "notification_number": "38", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200248", "id": "NANDO:1200248", "label_ja": "中毒性表皮壊死症（びまん性紅班進展型）", "label_en": "Toxic epidermal necrolysis without spots", "label_hira": "ちゅうどくせいひょうひえししょう（びまんせいこうはんしんてんがた）", "notification_number": "39", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200277", "id": "NANDO:1200277", "label_ja": "全身性強皮症", "label_en": "Systemic sclerosis", "label_hira": "ぜんしんせいきょうひしょう", "notification_number": "51", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200288", "id": "NANDO:1200288", "label_ja": "閉塞性肥大型心筋症", "label_en": "Hypertrophic obstructive cardiomyopathy", "label_hira": "へいそくせいひだいがたしんきんしょう", "notification_number": "58", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200312", "id": "NANDO:1200312", "label_ja": "古典的発作性夜間ヘモグロビン尿症", "label_en": "Classical paroxysmal nocturnal hemoglobinuria", "label_hira": "こてんてきほっさせいやかんへもぐろびんにょうしょう", "notification_number": "62", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_0000003", "id": "NANDO:0000003", "label_ja": "遺伝検査用疾患群", "label_en": "Disease groups for genetic testing", "label_hira": "", "notification_number": "", "category": "other" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200328", "id": "NANDO:1200328", "label_ja": "MHCクラスI欠損症", "label_en": "MHC class I deficiency", "label_hira": "えむえいちしーくらす1けっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200331", "id": "NANDO:1200331", "label_ja": "毛細血管拡張性運動失調症", "label_en": "Ataxia telangiectasia", "label_hira": "もうさいけっかんかくちょうせいうんどうしっちょうしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200335", "id": "NANDO:1200335", "label_ja": "PMS2異常症", "label_en": "PMS2 deficiency", "label_hira": "ぴーえむえす2いじょうしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200340", "id": "NANDO:1200340", "label_ja": "高IgE症候群", "label_en": "Hyper-IgE syndrome", "label_hira": "こうあいじーいーしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200348", "id": "NANDO:1200348", "label_ja": "特異抗体産生不全症", "label_en": "Specific antibody deficiency with normal Ig concentrations and normal numbers of B cells", "label_hira": "とくいこうたいさんせいふぜんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200349", "id": "NANDO:1200349", "label_ja": "乳児一過性低ガンマグロブリン血症", "label_en": "Transient hypogammaglobulinemia of infancy with normal numbers of B cells", "label_hira": "にゅうじいっかせいていがんまぐろぶりんけっしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200354", "id": "NANDO:1200354", "label_ja": "周期性好中球減少症", "label_en": "Cyclic neutropenia", "label_hira": "しゅうきせいこうちゅうきゅうげんしょうしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200359", "id": "NANDO:1200359", "label_ja": "メンデル遺伝型マイコバクテリア易感染症", "label_en": "Mendelian susceptibility to mycobacterial disease", "label_hira": "めんでるいでんがたまいこばくてりあいかんせんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200365", "id": "NANDO:1200365", "label_ja": "遺伝性血管性浮腫", "label_en": "Hereditary angioedema", "label_hira": "いでんせいけっかんせいふしゅ", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200374", "id": "NANDO:1200374", "label_ja": "下垂体性ADH分泌異常症", "label_en": "Diencephalo-hypophysial insufficiency-inappropriate ADH syndrome", "label_hira": "かすいたいせいえーでぃーえいちぶんぴついじょうしょう", "notification_number": "72", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200380", "id": "NANDO:1200380", "label_ja": "下垂体性ゴナドトロピン分泌亢進症", "label_en": "Diencephalo-hypophysial dysfunction-syndrome of abnormal secretion of gonadotropin", "label_hira": "かすいたいせいごなどとろぴんぶんぴつこうしんしょう", "notification_number": "76", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200381", "id": "NANDO:1200381", "label_ja": "中枢性思春期早発症", "label_en": "Central precocious puberty", "label_hira": "ちゅうすうせいししゅんきそうはつしょう", "notification_number": "76", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200419", "id": "NANDO:1200419", "label_ja": "非特異的間質性肺炎 ", "label_en": "Non-specific interstitial pneumonia", "label_hira": "ひとくいてきかんしつせいはいえん", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200425", "id": "NANDO:1200425", "label_ja": "肺動脈性肺高血圧症", "label_en": "Pulmonary arterial hypertension", "label_hira": "はいどうみゃくせいはいこうけつあつしょう", "notification_number": "86", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200434", "id": "NANDO:1200434", "label_ja": "網膜色素変性症（常染色体劣性遺伝型）", "label_en": "Autosomal recessive retinitis pigmentosa", "label_hira": "もうまくしきそへんせいしょう（じょうせんしょくたいれっせいいでんがた）", "notification_number": "90", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200455", "id": "NANDO:1200455", "label_ja": "新生児乳児食物蛋白誘発胃腸炎", "label_en": "Neonatal food-protein induced enterocolitis", "label_hira": "しんせいじにゅうじしょくもつたんぱくゆうはついちょうえん", "notification_number": "98", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200456", "id": "NANDO:1200456", "label_ja": "好酸球性食道炎", "label_en": "Eosinophilic esophagitis", "label_hira": "こうさんきゅうせいしょくどうえん", "notification_number": "98", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200473", "id": "NANDO:1200473", "label_ja": "非典型溶血性尿毒症症候群", "label_en": "Atypical hemolytic uremic syndrome", "label_hira": "ひてんけいようけつせいにょうどくしょうしょうこうぐん", "notification_number": "109", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200474", "id": "NANDO:1200474", "label_ja": "先天性非典型溶血性尿毒症症候群", "label_en": "Congenital atypical hemolytic uremic syndrome", "label_hira": "せんてんせいひてんけいようけつせいにょうどくしょうしょうこうぐん", "notification_number": "109", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200475", "id": "NANDO:1200475", "label_ja": "後天性非典型溶血性尿毒症症候群", "label_en": "Acquired aHUS", "label_hira": "こうてんせいひてんけいようけつせいにょうどくしょうしょうこうぐん", "notification_number": "109", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200481", "id": "NANDO:1200481", "label_ja": "ミオチュブラーミオパチー", "label_en": "Myotubular myopathy", "label_hira": "みおちゅぶらーみおぱちー", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200482", "id": "NANDO:1200482", "label_ja": "中心核ミオパチー", "label_en": "Centronuclear myopathy", "label_hira": "ちゅうしんかくみおぱちー", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200485", "id": "NANDO:1200485", "label_ja": "マリネスコ・シェーグレン症候群", "label_en": "Marinesco-Sjogren syndrome", "label_hira": "まりねすこ・しぇーぐれんしょうこうぐん", "notification_number": "112", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200499", "id": "NANDO:1200499", "label_ja": "ベッカー病", "label_en": "Becker disease", "label_hira": "べっかーびょう", "notification_number": "114", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200504", "id": "NANDO:1200504", "label_ja": "遺伝性高カリウム性周期性四肢麻痺", "label_en": "Hereditary hyperkalemic periodic paralysis", "label_hira": "いでんせいこうかりうむせいしゅうきせいししまひ", "notification_number": "115", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200517", "id": "NANDO:1200517", "label_ja": "DYT6ジストニア", "label_en": "Dystonia 6 ", "label_hira": "でぃーわいてぃー6じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200522", "id": "NANDO:1200522", "label_ja": "DYT11ジストニア", "label_en": "Dystonia 11", "label_hira": "でぃーわいてぃー11じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200545", "id": "NANDO:1200545", "label_ja": "皮質下梗塞と白質脳症を伴う常染色体優性脳動脈症", "label_en": "Cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy", "label_hira": "ひしつかこうそくとはくしつのうしょうをともなうじょうせんしょくたいゆうせいのうどうみゃくしょう", "notification_number": "124", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200558", "id": "NANDO:1200558", "label_ja": "先天性核上性球麻痺", "label_en": "Congenital suprabulbar paresis", "label_hira": "せんてんせいかくじょうせいきゅうまひ", "notification_number": "132", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200567", "id": "NANDO:1200567", "label_ja": "限局性皮質異形成タイプ1c", "label_en": "Focal cortical dysplasia type 1c", "label_hira": "げんきょくせいひしついけいせいたいぷ1しー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200569", "id": "NANDO:1200569", "label_ja": "限局性皮質異形成タイプ2b", "label_en": "Focal cortical dysplasia type 2b", "label_hira": "げんきょくせいひしついけいせいたいぷ2びー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200573", "id": "NANDO:1200573", "label_ja": "限局性皮質異形成タイプ3d", "label_en": "Focal cortical dysplasia type 3d", "label_hira": "げんきょくせいひしついけいせいたいぷ3でぃー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200574", "id": "NANDO:1200574", "label_ja": "神経細胞移動異常症", "label_en": "Neuronal migration defects", "label_hira": "しんけいさいぼういどういじょうしょう", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200575", "id": "NANDO:1200575", "label_ja": "先天性大脳白質形成不全症", "label_en": "Congenital hypomyelinating leukodystrophy", "label_hira": "せんてんせいだいのうはくしつけいせいふぜんしょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200596", "id": "NANDO:1200596", "label_ja": "片側痙攣・片麻痺・てんかん症候群", "label_en": "Hemiconvulsion-hemiplegia-epilepsy syndrome", "label_hira": "へんそくけいれん・かたまひ・てんかんしょうこうぐん", "notification_number": "149", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200599", "id": "NANDO:1200599", "label_ja": "PCDH19関連症候群", "label_en": "PCDH19-related syndrome", "label_hira": "ぴーしーでぃーえいち19かんれんしょうこうぐん", "notification_number": "152", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200606", "id": "NANDO:1200606", "label_ja": "スタージ・ウェーバー症候群", "label_en": "Sturge-Weber syndrome", "label_hira": "すたーじ・うぇーばーしょうこうぐん", "notification_number": "157", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200620", "id": "NANDO:1200620", "label_ja": "シェーグレン・ラルソン症候群", "label_en": "Sjögren-Larsson syndrome", "label_hira": "しぇーぐれん・らるそんしょうこうぐん", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200627", "id": "NANDO:1200627", "label_ja": "硫黄欠乏性毛髪発育異常症", "label_en": "Trichothiodystrophy", "label_hira": "いおうけつぼうせいもうはつはついくいじょうしょう", "notification_number": "160", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200634", "id": "NANDO:1200634", "label_ja": "粘膜類天疱瘡", "label_en": "Mucous membrane pemphigoid", "label_hira": "ねんまくるいてんぽうそう", "notification_number": "162", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200407", "id": "NANDO:1200407", "label_ja": "obsolete 副腎皮質刺激ホルモン不応症", "label_en": "obsolete ACTH unresponsiveness", "label_hira": "ふくじんひしつしげきほるもんふおうしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200649", "id": "NANDO:1200649", "label_ja": "後側彎型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, kyphoscoliotic type", "label_hira": "こうそくわんがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200693", "id": "NANDO:1200693", "label_ja": "総動脈幹遺残症", "label_en": "Truncus arteriosus communis", "label_hira": "そうどうみゃくかんいざんしょう", "notification_number": "207", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200696", "id": "NANDO:1200696", "label_ja": "総動脈幹遺残症III型", "label_en": "Truncus arteriosus communis type III", "label_hira": "そうどうみゃくかんいざんしょう3がた", "notification_number": "207", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200726", "id": "NANDO:1200726", "label_ja": "一次性膜性増殖性糸球体腎炎I型", "label_en": "Primary membranoproliferative glomerulonephritis type I", "label_hira": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん1がた", "notification_number": "223", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200742", "id": "NANDO:1200742", "label_ja": "先天性腎性尿崩症", "label_en": "Congenital nephrogenic diabetes insipidus", "label_hira": "せんてんせいじんせいにょうほうしょう", "notification_number": "225", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200743", "id": "NANDO:1200743", "label_ja": "間質性膀胱炎（ハンナ型）", "label_en": "Interstitial cystitis (Hunner type)", "label_hira": "かんしつせいぼうこうえん(はんながた)", "notification_number": "226", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200750", "id": "NANDO:1200750", "label_ja": "先天性肺胞蛋白症", "label_en": "Congenital alveolar proteinosis", "label_hira": "せんてんせいはいほうたんぱくしょう", "notification_number": "229", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200754", "id": "NANDO:1200754", "label_ja": "特発性中枢性低換気症候群", "label_en": "Idiopathic central hypoventilation syndrome", "label_hira": "とくはつせいちゅうすうせいていかんきしょうこうぐん", "notification_number": "230", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200756", "id": "NANDO:1200756", "label_ja": "カーニー複合", "label_en": "Carney complex", "label_hira": "かーにーふくごう", "notification_number": "232", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200758", "id": "NANDO:1200758", "label_ja": "ペルオキシソーム病", "label_en": "Peroxisomal disorder", "label_hira": "ぺるおきしそーむびょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200766", "id": "NANDO:1200766", "label_ja": "D-二頭酵素欠損症", "label_en": "D-bifunctional protein deficiency", "label_hira": "でぃーにとうこうそけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200778", "id": "NANDO:1200778", "label_ja": "ビタミンD抵抗性くる病/骨軟化症", "label_en": "Vitamin D-resistant rickets/Vitamin D-resistant osteomalacia", "label_hira": "びたみんでぃーていこうせいくるびょう/こつなんかしょう", "notification_number": "238", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200783", "id": "NANDO:1200783", "label_ja": "ビタミンD依存症2型", "label_en": "Vitamin D-dependent rickets, type 2", "label_hira": "びたみんでぃーいぞんしょう2がた", "notification_number": "239", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200801", "id": "NANDO:1200801", "label_ja": "グルタル酸血症2型", "label_en": "Glutaric acidemia type 2", "label_hira": "ぐるたるさんけっしょう2がた", "notification_number": "250", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200812", "id": "NANDO:1200812", "label_ja": "急性間欠性ポルフィリン症", "label_en": "Acute intermittent porphyria", "label_hira": "きゅうせいかんけつせいぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200821", "id": "NANDO:1200821", "label_ja": "ホロカルボキシラーゼ合成酵素欠損症", "label_en": "Holocarboxylase synthetase deficiency", "label_hira": "ほろかるぼきしらーぜごうせいこうそけっそんしょう", "notification_number": "255", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200828", "id": "NANDO:1200828", "label_ja": "筋型糖原病V型", "label_en": "Glycogen storage diseases type V", "label_hira": "きんがたとうげんびょう5がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200870", "id": "NANDO:1200870", "label_ja": "強直性脊椎炎", "label_en": "Ankylosing spondylitis", "label_hira": "きょうちょくせいせきついえん", "notification_number": "271", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200881", "id": "NANDO:1200881", "label_ja": "巨大リンパ管奇形（頚部顔面病変）", "label_en": "Giant lymphatic malformation (cervicofacial lesion)", "label_hira": "きょだいりんぱかんきけい（けいぶがんめんびょうへん）", "notification_number": "278", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200905", "id": "NANDO:1200905", "label_ja": "S状結腸型ヒルシュスプルング病", "label_en": "Rectosigmoid Hirschsprung's disease", "label_hira": "えすじょうけっちょうがたひるしゅすぷるんぐびょう", "notification_number": "291", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200907", "id": "NANDO:1200907", "label_ja": "全結腸型ヒルシュスプルング病", "label_en": "Entire colon Hirschsprung disease", "label_hira": "ぜんけっちょうがたひるしゅすぷるんぐびょう", "notification_number": "291", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200923", "id": "NANDO:1200923", "label_ja": "IgG4関連疾患", "label_en": "IgG4-related disease", "label_hira": "あいじーじー4かんれんしっかん", "notification_number": "300", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200932", "id": "NANDO:1200932", "label_ja": "卵黄様黄斑ジストロフィー", "label_en": "Vitelliform macular dystrophy", "label_hira": "らんおうようおうはんじすとろふぃー", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200935", "id": "NANDO:1200935", "label_ja": "錐体ジストロフィー、および錐体杆体ジストロフィー", "label_en": "Cone-rod dystrophy and cone dystrophy", "label_hira": "すいたいじすとろふぃー、およびすいたいかんたいじすとろふぃー", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200947", "id": "NANDO:1200947", "label_ja": "好酸球性副鼻腔炎", "label_en": "Eosinophilic sinusitis", "label_hira": "こうさんきゅうせいふくびくうえん", "notification_number": "306", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200949", "id": "NANDO:1200949", "label_ja": "進行性白質脳症", "label_en": "Progressive leukoencephalopathy", "label_hira": "しんこうせいはくしつのうしょう", "notification_number": "308", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200957", "id": "NANDO:1200957", "label_ja": "先天異常症候群", "label_en": "Congenital anomalies syndrome", "label_hira": "せんてんいじょうしょうこうぐん", "notification_number": "310", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200880", "id": "NANDO:1200880", "label_ja": "obsolete ゴーハム病", "label_en": "obsolete Gorham disease", "label_hira": "obsolete ごーはむびょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200972", "id": "NANDO:1200972", "label_ja": "カルニチン/アシルカルニチントランスロカーゼ欠損症", "label_en": "Carnitine-acylcarnitine translocase deficiency", "label_hira": "かるにちん/あしるかるにちんとらんすろかーぜけっそんしょう", "notification_number": "316", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200998", "id": "NANDO:1200998", "label_ja": "大理石骨病", "label_en": "Osteopetrosis", "label_hira": "だいりせきこつびょう", "notification_number": "326", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201038", "id": "NANDO:1201038", "label_ja": "ホモシスチン尿症", "label_en": "Homocystinuria", "label_hira": "ほもしすちんにょうしょう", "notification_number": "337", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201043", "id": "NANDO:1201043", "label_ja": "進行性家族性肝内胆汁うっ滞症1型", "label_en": "Progressive familial intrahepatic cholestasis type 1", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう1がた", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201045", "id": "NANDO:1201045", "label_ja": "進行性家族性肝内胆汁うっ滞症3型", "label_en": "Progressive familial intrahepatic cholestasis type 3", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう3がた", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201075", "id": "NANDO:1201075", "label_ja": "偽性副甲状腺機能低下症Ia型", "label_en": "Pseudohypoparathyroidism type 1A", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう1えーがた", "notification_number": "236", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201076", "id": "NANDO:1201076", "label_ja": "偽性副甲状腺機能低下症Ib型", "label_en": "Pseudohypoparathyroidism type 1B", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう1びーがた", "notification_number": "236", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201077", "id": "NANDO:1201077", "label_ja": "偽性副甲状腺機能低下症Ic型", "label_en": "Pseudohypoparathyroidism type 1C", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう1しーがた", "notification_number": "236", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201079", "id": "NANDO:1201079", "label_ja": "脳室周囲結節状異所性灰白質", "label_en": "Periventricular nodular heterotopia", "label_hira": "のうしつしゅういけっせつじょういしょせいはいはくしつ", "notification_number": "138", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201081", "id": "NANDO:1201081", "label_ja": "先天性プロテインS欠乏症", "label_en": "Protein S deficiency", "label_hira": "せんてんせいぷろていんえすけつぼうしょう", "notification_number": "327", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201097", "id": "NANDO:1201097", "label_ja": "カルタゲナー症候群", "label_en": "Kartagener syndrome", "label_hira": "かるたげなーしょうこうぐん", "notification_number": "340", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201098", "id": "NANDO:1201098", "label_ja": "TRPV4異常症", "label_en": "Transient receptor potential cation channel, vanilloid subfamily, member 4 (TRPV4) -associated disorders", "label_hira": "てぃーあーるぴーぶい4いじょうしょう", "notification_number": "341", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201023", "id": "NANDO:1201023", "label_ja": "obsolete 微細欠失症候群等症候群", "label_en": "obsolete Micro-deletion syndrome and other syndromes", "label_hira": "obsolete びさいけっしつしょうこうぐんとうしょうこうぐん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100020", "id": "NANDO:2100020", "label_ja": "ギッテルマン症候群", "label_en": "Gitelman syndrome", "label_hira": "ぎってるまんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100024", "id": "NANDO:2100024", "label_ja": "腎奇形", "label_en": "Renal malformation", "label_hira": "じんきけい", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100026", "id": "NANDO:2100026", "label_ja": "萎縮腎（尿路奇形が原因のものを除く。）", "label_en": "Atrophic kidney (excluding urinary tract malformation)", "label_hira": "いしゅくじん（にょうろきけいがげんいんのものをのぞく。）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100052", "id": "NANDO:2100052", "label_ja": "心室細動", "label_en": "Ventricular fibrillation", "label_hira": "しんしつさいどう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100069", "id": "NANDO:2100069", "label_ja": "冠動脈狭窄症（川崎病によるものを除く。）", "label_en": "Stenosis or atresia of coronary artery (not caused by Kawasaki disease)", "label_hira": "かんどうみゃくきょうさくしょう（かわさきびょうによるものをのぞく。）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100083", "id": "NANDO:2100083", "label_ja": "三心房心", "label_en": "Cor triatriatum", "label_hira": "さんしんぼうしん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100126", "id": "NANDO:2100126", "label_ja": "偽性副甲状腺機能低下症", "label_en": "Pseudohypoparathyroidism", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100150", "id": "NANDO:2100150", "label_ja": "内分泌疾患を伴うその他の症候群", "label_en": "Other endocrine disease", "label_hira": "ないぶんぴつしっかんをともなうそのほかのしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100153", "id": "NANDO:2100153", "label_ja": "血管炎症候群", "label_en": "vasculitic syndrome", "label_hira": "けっかんえんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100169", "id": "NANDO:2100169", "label_ja": "ビタミン代謝異常症", "label_en": "Disorder of vitamin metabolism", "label_hira": "びたみんたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100171", "id": "NANDO:2100171", "label_ja": "脂質代謝異常症", "label_en": "Disorder of lipid metabolism", "label_hira": "ししつたいしゃいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200003", "id": "NANDO:2200003", "label_ja": "T細胞急性リンパ性白血病", "label_en": "T-cell lymphoblastic leukemia", "label_hira": "てぃーさいぼうきゅうせいりんぱせいはっけつびょう", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200009", "id": "NANDO:2200009", "label_ja": "急性単球性白血病", "label_en": "Acute monocytic leukemia", "label_hira": "きゅうせいたんきゅうせいはっけつびょう", "notification_number": "75", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200010", "id": "NANDO:2200010", "label_ja": "急性赤白血病", "label_en": "Acute erythremia", "label_hira": "きゅうせいせきはっけつびょう", "notification_number": "73", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200025", "id": "NANDO:2200025", "label_ja": "18から22までに掲げるもののほか、リンパ腫", "label_en": "Other malignant lymphomas", "label_hira": "18から22までにかかげるもののほか、りんぱしゅ", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200030", "id": "NANDO:2200030", "label_ja": "皮下脂肪織炎様T細胞リンパ腫", "label_en": "Sucutaneous panniculitis-like T-cell lymphoma", "label_hira": "ひかしぼうしきえんようてぃーさいぼうりんぱしゅ", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200038", "id": "NANDO:2200038", "label_ja": "エルドハイム・チェスター病", "label_en": "Erdheim-Chester disease", "label_hira": "えるどはいむ・ちぇすたーびょう", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200045", "id": "NANDO:2200045", "label_ja": "腎細胞癌", "label_en": "Renal cell carcinoma", "label_hira": "じんさいぼうがん", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201228", "id": "NANDO:2201228", "label_ja": "乳幼児型マルチプルスルファターゼ欠損症", "label_en": "Late-infantile multiple sulfatase deficiency", "label_hira": "にゅうようじがたまるちぷるするふぁたーぜけっそんしょう", "notification_number": "127", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201232", "id": "NANDO:2201232", "label_ja": "ウォルマン病", "label_en": "Wolman disease", "label_hira": "うぉるまんびょう", "notification_number": "116", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201242", "id": "NANDO:2201242", "label_ja": "遅発乳児型神経セロイドリポフスチン症", "label_en": "Late infantile neuronal ceroid lipofuscinosis", "label_hira": "ちはつにゅうじがたしんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201246", "id": "NANDO:2201246", "label_ja": "小児大脳型副腎白質ジストロフィー", "label_en": "Childhood cerebral adrenoleukodystrophy", "label_hira": "しょうにだいのうがたふくじんはくしつじすとろふぃー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201254", "id": "NANDO:2201254", "label_ja": "家族性高コレステロール血症ヘテロ接合体", "label_en": "Heterozygous familial hypercholesterolemia", "label_hira": "かぞくせいこうこれすてろーるけっしょうへてろせつごうたい", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201265", "id": "NANDO:2201265", "label_ja": "異型ポルフィリン症", "label_en": "Variegate porphyria", "label_hira": "いけいぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201268", "id": "NANDO:2201268", "label_ja": "先天性骨髄性ポルフィリン症", "label_en": "Congenital erythropoietic porphyria", "label_hira": "せんてんせいこつずいせいぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201275", "id": "NANDO:2201275", "label_ja": "先天性再生不良性貧血", "label_en": "Congenital aplastic anemia", "label_hira": "せんてんせいさいせいふりょうせいひんけつ", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201281", "id": "NANDO:2201281", "label_ja": "p47phox欠損慢性肉芽腫症", "label_en": "p47phox-deficient chronic granulomatous disease", "label_hira": "ぴー47ふぉっくすけっそんまんせいにくげしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201303", "id": "NANDO:2201303", "label_ja": "非症候性頭蓋骨縫合早期癒合症（冠状縫合）", "label_en": "Non-syndromic coronal craniosynostosis", "label_hira": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（かんじょうほうごう）", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201319", "id": "NANDO:2201319", "label_ja": "再発寛解型多発性硬化症", "label_en": "Relapsing-remitting multiple sclerosis", "label_hira": "さいはつかんかいがたたはつせいこうかしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201323", "id": "NANDO:2201323", "label_ja": "多発性硬化症（その他）", "label_en": "Other multiple sclerosis", "label_hira": "たはつせいこうかしょう（そのた）", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201328", "id": "NANDO:2201328", "label_ja": "Icyst型胆道閉鎖症", "label_en": "Type I cystic biliary atresia", "label_hira": "1しすとがたたんどうへいさしょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201339", "id": "NANDO:2201339", "label_ja": "ファイファー症候群（前頭縫合）", "label_en": "Pfeiffer syndrome (metopic synostosis)", "label_hira": "ふぁいふぁーしょうこうぐん（ぜんとうほうごう）", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201363", "id": "NANDO:2201363", "label_ja": "点状軟骨異形成症（その他）", "label_en": "Other chondrodysplasia punctata", "label_hira": "てんじょうなんこついけいせいしょう（そのた）", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201368", "id": "NANDO:2201368", "label_ja": "頭蓋骨幹異形成症", "label_en": "Craniodiaphyseal dysplasia", "label_hira": "ずがいこっかんいけいせいしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201440", "id": "NANDO:2201440", "label_ja": "好酸球性胃腸炎", "label_en": "Eosinophilic gastroenteritis", "label_hira": "こうさんきゅうせいいちょうえん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201442", "id": "NANDO:2201442", "label_ja": "全身性脂肪萎縮症", "label_en": "Generalized lipodystrophy", "label_hira": "ぜんしんせいしぼういしゅくしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201443", "id": "NANDO:2201443", "label_ja": "部分的脂肪萎縮症", "label_en": "Partial lipodystrophy", "label_hira": "ぶぶんてきしぼういしゅくしょう", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201454", "id": "NANDO:2201454", "label_ja": "全消化管型若年性ポリポーシス", "label_en": "Generalized juvenile polyposis", "label_hira": "ぜんしょうかかんがたじゃくねんせいぽりぽーしす", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201456", "id": "NANDO:2201456", "label_ja": "胃限局型若年性ポリポーシス", "label_en": "Gastric juvenile polyposis", "label_hira": "いげんきょくがたじゃくねんせいぽりぽーしす", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201462", "id": "NANDO:2201462", "label_ja": "両側腎無発生", "label_en": "Bilateral renal agenesis", "label_hira": "りょうがわじんむはっせい", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201472", "id": "NANDO:2201472", "label_ja": "非肝硬変性門脈圧亢進症", "label_en": "Non-cirrhotic portal hypertension", "label_hira": "ひかんこうへんせいもんみゃくあつこうしんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201476", "id": "NANDO:2201476", "label_ja": "古典的ホジキンリンパ腫", "label_en": "Classical Hodgkin's lymphoma", "label_hira": "こてんてきほじきんりんぱしゅ", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201477", "id": "NANDO:2201477", "label_ja": "低リン血症性骨軟化症", "label_en": "Hypophosphatemic osteomalacia", "label_hira": "ていりんけっしょうせいこつなんかしょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201441", "id": "NANDO:2201441", "label_ja": "Proton pump inhibitor-responsive esophageal eosinophilia", "label_en": "Proton-pump inhibitor-responsive esophageal eosinophilia", "label_hira": "", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201487", "id": "NANDO:2201487", "label_ja": "乳児発症ＳＴＩＮＧ関連血管炎", "label_en": "STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy", "label_hira": "にゅうじはっしょう すてぃんぐ かんれんけっかんえん", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201499", "id": "NANDO:2201499", "label_ja": "限局性皮質異形成タイプ1a", "label_en": "Focal cortical dysplasia type 1a", "label_hira": "げんきょくせいひしついけいせいたいぷ1えー", "notification_number": "87", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201522", "id": "NANDO:2201522", "label_ja": "先天性食道閉鎖症 Gross E型", "label_en": "Congenital esophageal atresia Gross type E", "label_hira": "せんてんせいしょくどうへいさしょう ぐろすいーがた", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201146", "id": "NANDO:1201146", "label_ja": "DYT27 ジストニア", "label_en": "DYT27 Dystonia", "label_hira": "でぃーわいてぃー27じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201147", "id": "NANDO:1201147", "label_ja": "DYT28 ジストニア", "label_en": "DYT28 Dystonia", "label_hira": "でぃーわいてぃー28じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100172", "id": "NANDO:2100172", "label_ja": "結合組織異常症", "label_en": "Connective tissue disorder", "label_hira": "けつごうそしきいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100175", "id": "NANDO:2100175", "label_ja": "血液疾患", "label_en": "Blood disease", "label_hira": "けつえきしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100182", "id": "NANDO:2100182", "label_ja": "発作性夜間ヘモグロビン尿症", "label_en": "Paroxysmal nocturnal haemoglobinuria", "label_hira": "ほっさせいやかんへもぐろびんにょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100184", "id": "NANDO:2100184", "label_ja": "溶血性貧血（脾機能亢進症によるものに限る。）", "label_en": "Hemolytic anemia due to hypersplenism", "label_hira": "ようけつせいひんけつ（ひきのうこうしんしょうによるものにかぎる。）", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100186", "id": "NANDO:2100186", "label_ja": "真性多血症", "label_en": "Polycythemia vera", "label_hira": "しんせいたけつしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100193", "id": "NANDO:2100193", "label_ja": "メイ・ヘグリン異常症", "label_en": "May-Hegglin anomaly", "label_hira": "めい・へぐりんいじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100196", "id": "NANDO:2100196", "label_ja": "先天性血液凝固因子異常", "label_en": "Inherited bleeding disorder ", "label_hira": "せんてんせいけつえきぎょうこいんしいじょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200002", "id": "NANDO:2200002", "label_ja": "成熟B細胞急性リンパ性白血病", "label_en": "Mature B-cell lymphoblastic leukemia", "label_hira": "せいじゅくびーさいぼうきゅうせいりんぱせいはっけつびょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200028", "id": "NANDO:2200028", "label_ja": "末梢性T細胞リンパ腫-非特定型", "label_en": "Peripheral T-cell lymphoma, not otherwise specified", "label_hira": "まっしょうせいてぃーさいぼうりんぱしゅ-ひとくていがた", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200041", "id": "NANDO:2200041", "label_ja": "神経節芽腫", "label_en": "Ganglioneuroblastoma", "label_hira": "しんけいせつがしゅ", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200054", "id": "NANDO:2200054", "label_ja": "未分化神経外胚葉性腫瘍（末梢性のものに限る。）", "label_en": "Primitive neuroectodermal tumors", "label_hira": "みぶんかしんけいがいはいようせいしゅよう（まっしょうせいのものにかぎる。）", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200070", "id": "NANDO:2200070", "label_ja": "絨毛癌", "label_en": "Choriocarcinoma", "label_hira": "じゅうもうがん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200096", "id": "NANDO:2200096", "label_ja": "神経節膠腫", "label_en": "Ganglioglioma", "label_hira": "しんけいせつこうしゅ", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200101", "id": "NANDO:2200101", "label_ja": "異型奇形腫瘍／ラブドイド腫瘍", "label_en": "Atypical teratoid, rhabdoid tumour", "label_hira": "いけいきけいしゅよう／らぶどいどしゅよう", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200103", "id": "NANDO:2200103", "label_ja": "神経鞘腫", "label_en": "Neurinoma", "label_hira": "しんけいしょうしゅ", "notification_number": "55", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200131", "id": "NANDO:2200131", "label_ja": "非典型溶血性尿毒症症候群", "label_en": "Atypical hemolytic uremic syndrome", "label_hira": "ひてんけいようけつせいにょうどくしょうしょうこうぐん", "notification_number": "39", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200159", "id": "NANDO:2200159", "label_ja": "寡巨大糸球体症", "label_en": "Oligomeganephronia", "label_hira": "かきょだいしきゅうたいしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200168", "id": "NANDO:2200168", "label_ja": "骨盤部融合腎", "label_en": "Fused pelvic kidney", "label_hira": "こつばんぶゆうごうじん", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200176", "id": "NANDO:2200176", "label_ja": "先天性水腎症", "label_en": "Ureteropelvic junction obstruction", "label_hira": "せんてんせいすいじんしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200192", "id": "NANDO:2200192", "label_ja": "声門狭窄症", "label_en": "Glottic stenosis", "label_hira": "せいもんきょうさくしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200195", "id": "NANDO:2200195", "label_ja": "気管軟化症", "label_en": "Tracheomalacia", "label_hira": "きかんなんかしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200196", "id": "NANDO:2200196", "label_ja": "気管支狭窄症", "label_en": "bronchial stenosis", "label_hira": "きかんしきょうさくしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200200", "id": "NANDO:2200200", "label_ja": "先天性肺胞蛋白症", "label_en": "Congenital alveolar proteinosis", "label_hira": "せんてんせいはいほうたんぱくしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200212", "id": "NANDO:2200212", "label_ja": "洞不全症候群", "label_en": "Sick sinus syndrome", "label_hira": "どうふぜんしょうこうぐん", "notification_number": "72", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200213", "id": "NANDO:2200213", "label_ja": "モビッツ2型ブロック", "label_en": "Mobitz type II second degree atrioventricular block", "label_hira": "もびっつ2がたぶろっく", "notification_number": "96", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200216", "id": "NANDO:2200216", "label_ja": "多源性心室期外収縮", "label_en": "Polymorphic ventricular premature beat", "label_hira": "たげんせいしんしつきがいしゅうしゅく", "notification_number": "67", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200222", "id": "NANDO:2200222", "label_ja": "9及び10に掲げるもののほか、心室頻拍", "label_en": "Other ventricular tachycardia", "label_hira": "9および10にかかげるもののほか、しんしつひんぱく", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100207", "id": "NANDO:2100207", "label_ja": "原発性食細胞機能不全症および欠損症", "label_en": "Primary phagocyte dysfunction and phagocyte deficiency", "label_hira": "げんぱつせいしょくさいぼうきのうふぜんしょうおよびけっそんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100213", "id": "NANDO:2100213", "label_ja": "慢性移植片対宿主病", "label_en": "Chronic graft-versus-host disease", "label_hira": "まんせいいしょくへんたいしゅくしゅびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100252", "id": "NANDO:2100252", "label_ja": "重症筋無力症", "label_en": "Myasthenia gravis", "label_hira": "じゅうしょうきんむりょくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100264", "id": "NANDO:2100264", "label_ja": "obsolete 自己免疫性肝炎", "label_en": "obsolete Autoimmune hepatitis", "label_hira": "じこめんえきせいかんえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100269", "id": "NANDO:2100269", "label_ja": "肝血行異常症", "label_en": "hepatic circulatory abnormalities", "label_hira": "かんけっこういじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100277", "id": "NANDO:2100277", "label_ja": "総排泄腔異常症", "label_en": "Persistent cloaca", "label_hira": "そうはいせつくういじょうしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200232", "id": "NANDO:2200232", "label_ja": "拡張型心筋症", "label_en": "Dilated cardiomyopathy", "label_hira": "かくちょうがたしんきんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200238", "id": "NANDO:2200238", "label_ja": "慢性心膜炎", "label_en": "Chronic pericarditis", "label_hira": "まんせいしんまくえん", "notification_number": "94", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200261", "id": "NANDO:2200261", "label_ja": "総動脈幹遺残症", "label_en": "Truncus arteriosus communis", "label_hira": "そうどうみゃくかんいざんしょう", "notification_number": "54", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200262", "id": "NANDO:2200262", "label_ja": "大動脈肺動脈窓", "label_en": "Aorto-pulmonary window", "label_hira": "だいどうみゃくはいどうみゃくそう", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200285", "id": "NANDO:2200285", "label_ja": "大動脈弁上狭窄症", "label_en": "Supravalvular aortic stenosis", "label_hira": "だいどうみゃくべんじょうきょうさくしょう", "notification_number": "61", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200318", "id": "NANDO:2200318", "label_ja": "成長ホルモン分泌不全性低身長症（脳の器質的原因によるものを除く。）", "label_en": "Growth hormone deficiency not caused by cerebral organic disorders", "label_hira": "せいちょうほるもんぶんぴつふぜんせいていしんちょうしょう（のうのきしつてきげんいんによるものをのぞく。）", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200325", "id": "NANDO:2200325", "label_ja": "口渇中枢障害を伴う高ナトリウム血症", "label_en": "Adipsic hypernatremia", "label_hira": "こうかつちゅうすうしょうがいをともなうこうなとりうむけっしょう", "notification_number": "73", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200334", "id": "NANDO:2200334", "label_ja": "17から19までに掲げるもののほか、先天性甲状腺機能低下症", "label_en": "Other congenital hypothyroidism", "label_hira": "17から19までにかかげるもののほか、せんてんせいこうじょうせんきのうていかしょう", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200340", "id": "NANDO:2200340", "label_ja": "中枢性甲状腺機能低下症", "label_en": "Central hypothyroidism", "label_hira": "ちゅうすうせいこうじょうせんきのうていかしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200350", "id": "NANDO:2200350", "label_ja": "クッシング病", "label_en": "Cushing disease", "label_hira": "くっしんぐびょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200397", "id": "NANDO:2200397", "label_ja": "グルカゴノーマ", "label_en": "Glucagonoma", "label_hira": "ぐるかごのーま", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200415", "id": "NANDO:2200415", "label_ja": "若年性特発性関節炎", "label_en": "Juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200422", "id": "NANDO:2200422", "label_ja": "ベーチェット病", "label_en": "Behcet's disease", "label_hira": "べーちぇっとびょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200432", "id": "NANDO:2200432", "label_ja": "クリオピリン関連周期熱症候群", "label_en": "Cryopyrin-associated periodic syndrome", "label_hira": "くりおぴりんかんれんしゅうきねつしょうこうぐん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200434", "id": "NANDO:2200434", "label_ja": "ブラウ症候群", "label_en": "Blau syndrome, early onset sarcoidosis", "label_hira": "ぶらうしょうこうぐん", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200443", "id": "NANDO:2200443", "label_ja": "CARD14異常症", "label_en": "CARD14 deficiency", "label_hira": "しーえーあーるでぃー14いじょうしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200480", "id": "NANDO:2200480", "label_ja": "アルギニノコハク酸合成酵素欠損症", "label_en": "Argininosuccinate synthetase deficiency", "label_hira": "あるぎにのこはくさんごうせいこうそけっそんしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200487", "id": "NANDO:2200487", "label_ja": "ハートナップ病", "label_en": "Hartnup disease", "label_hira": "はーとなっぷびょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200505", "id": "NANDO:2200505", "label_ja": "グリセロール尿症", "label_en": "Glycerol kinase deficiency", "label_hira": "ぐりせろーるにょうしょう", "notification_number": "96", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200528", "id": "NANDO:2200528", "label_ja": "ミトコンドリアDNA欠失", "label_en": "Diseases due to mitochondrial DNA deletion", "label_hira": "みとこんどりあでぃーえぬえーけっしつ", "notification_number": "90", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200545", "id": "NANDO:2200545", "label_ja": "グルコーストランスポーター1欠損症", "label_en": "Glucose transporter 1 deficiency", "label_hira": "ぐるこーすとらんすぽーたー1けっそんしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200559", "id": "NANDO:2200559", "label_ja": "GM2ガングリオシドーシス", "label_en": "GM2 gangliosidosis", "label_hira": "じーえむ2がんぐりおしどーしす", "notification_number": "119", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200560", "id": "NANDO:2200560", "label_ja": "異染性白質ジストロフィー", "label_en": "Metachromatic leukodystrophy", "label_hira": "いせんせいはくしつじすとろふぃー", "notification_number": "112", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200454", "id": "NANDO:2200454", "label_ja": "obsolete NLRP-12関連周期性症候群", "label_en": "obsolete NLRP12-associated periodic syndrome", "label_hira": "えぬえるあーるぴー12かんれんしゅうきせいしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200588", "id": "NANDO:2200588", "label_ja": "キサンチン尿症", "label_en": "Xanthinuria", "label_hira": "きさんちんにょうしょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200598", "id": "NANDO:2200598", "label_ja": "GABAアミノ基転移酵素欠損症", "label_en": "Gamma-amino butyrate aminotransferase deficiency", "label_hira": "ぎゃばあみのきてんいこうそけっそんしょう", "notification_number": "50", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200605", "id": "NANDO:2200605", "label_ja": "高比重リポタンパク欠乏症", "label_en": "HDL deficiency", "label_hira": "こうひじゅうりぽたんぱくけつぼうしょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200611", "id": "NANDO:2200611", "label_ja": "α1-アンチトリプシン欠損症", "label_en": "Alpha-1-antitrypsin deficiency", "label_hira": "あるふぁ1あんちとりぷしんけっそんしょう", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200624", "id": "NANDO:2200624", "label_ja": "鎌状赤血球症", "label_en": "Sickle cell disease", "label_hira": "かまじょうせっけっきゅうしょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200627", "id": "NANDO:2200627", "label_ja": "グルコース-6-リン酸脱水素酵素欠乏症", "label_en": "Glucose-6-phosphate dehydrogenase deficiency", "label_hira": "ぐるこーす6りんさんだっすいそこうそけつぼうしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200637", "id": "NANDO:2200637", "label_ja": "脾機能亢進症", "label_en": "Hypersplenism", "label_hira": "ひきのうこうしんしょう", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200644", "id": "NANDO:2200644", "label_ja": "家族性赤血球増加症", "label_en": "Familial polycythemia", "label_hira": "かぞくせいせっけっきゅうぞうかしょう", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200654", "id": "NANDO:2200654", "label_ja": "メイ・ヘグリン異常症", "label_en": "May-Hegglin anomaly", "label_hira": "めい・へぐりんいじょうしょう", "notification_number": "51", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200668", "id": "NANDO:2200668", "label_ja": "血小板型フォンウィルブランド病", "label_en": "Platelet-type von Willebrand disease", "label_hira": "けっしょうばんがたふぉん・びるぶらんどびょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200669", "id": "NANDO:2200669", "label_ja": "ADP受容体異常症", "label_en": "ADP receptor deficiencies", "label_hira": "えーでぃーぴーじゅようたいいじょうしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200676", "id": "NANDO:2200676", "label_ja": "血友病Ａ", "label_en": "Hemophilia A", "label_hira": "けつゆうびょうえー", "notification_number": "29", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200686", "id": "NANDO:2200686", "label_ja": "先天性第VおよびVIII因子合併欠乏症", "label_en": "Combined deficiency of coagulation factors V and VIII", "label_hira": "せんてんせいだい5および8いんしがっぺいけつぼうしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200688", "id": "NANDO:2200688", "label_ja": "先天性プラスミノゲンアクチベータインヒビター1欠乏症", "label_en": "Congenital plasminogen activator inhibitor-1 deficiency", "label_hira": "せんてんせいぷらすみのげんあくちべーたいんひびたー1けつぼうしょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200695", "id": "NANDO:2200695", "label_ja": "細網異形成症", "label_en": "Reticular dysgenesis", "label_hira": "さいもういけいせいしょう", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200706", "id": "NANDO:2200706", "label_ja": "ナイミーヘン染色体不安定症候群", "label_en": "Nijmegen breakage syndrome", "label_hira": "ないみーへんせんしょくたいふあんていしょうこうぐん", "notification_number": "52", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200729", "id": "NANDO:2200729", "label_ja": "UNC13D/Munc13-4欠損症", "label_en": "UNC13D/Munc13-4 deficiency", "label_hira": "ゆーえぬしー13でぃー/えむゆーえぬしー13−4けっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200753", "id": "NANDO:2200753", "label_ja": "X連鎖好中球減少症", "label_en": "X linked severe congenital neutropenia", "label_hira": "えっくすれんさこうちゅうきゅうげんしょうしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200759", "id": "NANDO:2200759", "label_ja": "メンデル遺伝型マイコバクテリア易感染症", "label_en": "Mendelian susceptibility to mycobacterial disease", "label_hira": "めんでるいでんがたまいこばくてりあいかんせんしょう", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200776", "id": "NANDO:2200776", "label_ja": "先天性補体欠損症", "label_en": "Inherited deficiency of complement system", "label_hira": "せんてんせいほたいけっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200784", "id": "NANDO:2200784", "label_ja": "C6 欠損症", "label_en": "C6 deficiency", "label_hira": "しー6けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200813", "id": "NANDO:2200813", "label_ja": "髄膜脳瘤", "label_en": "Meningoencephalocele", "label_hira": "ずいまくのうりゅう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200822", "id": "NANDO:2200822", "label_ja": "先天性水頭症", "label_en": "Congenital hydrocephalus", "label_hira": "せんてんせいすいとうしょう", "notification_number": "89", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200824", "id": "NANDO:2200824", "label_ja": "ジュベール症候群関連疾患", "label_en": "Joubert syndrome related disorders", "label_hira": "じゅべーるしょうこうぐんかんれんしっかん", "notification_number": "23", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200832", "id": "NANDO:2200832", "label_ja": "コケイン症候群", "label_en": "Cockayne syndrome", "label_hira": "こけいんしょうこうぐん", "notification_number": "60", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200839", "id": "NANDO:2200839", "label_ja": "ATR-X症候群", "label_en": "ATR-X syndrome", "label_hira": "えーてぃーあーるえっくすしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200842", "id": "NANDO:2200842", "label_ja": "脳クレアチン欠乏症候群", "label_en": "Cerebral creatine deficiency syndrome", "label_hira": "のうくれあちんけつぼうしょうこうぐん", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200849", "id": "NANDO:2200849", "label_ja": "分類不能の多縫合早期癒合症", "label_en": "Unclassifiable multiple suture craniosynostosis", "label_hira": "ぶんるいふのうのたほうごうそうきゆごうしょう", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200851", "id": "NANDO:2200851", "label_ja": "脳動静脈奇形", "label_en": "Cerebral arteriovenous malformation", "label_hira": "のうどうじょうみゃくきけい", "notification_number": "94", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200864", "id": "NANDO:2200864", "label_ja": "筋強直性ジストロフィー", "label_en": "Myotonic dystrophy", "label_hira": "きんきょうちょくせいじすとろふぃー", "notification_number": "19", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200879", "id": "NANDO:2200879", "label_ja": "レノックス・ガストー症候群", "label_en": "Lennox-Gastaut syndrome", "label_hira": "れのっくす・がすとーしょうこうぐん", "notification_number": "80", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200885", "id": "NANDO:2200885", "label_ja": "瀬川病", "label_en": "Segawa syndrome", "label_hira": "せがわびょう", "notification_number": "100", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200888", "id": "NANDO:2200888", "label_ja": "乳児両側線条体壊死", "label_en": "Infantile bilateral striatal necrosis", "label_hira": "にゅうじりょうそくせんじょうたいえし", "notification_number": "82", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200633", "id": "NANDO:2200633", "label_ja": "Stomatocytic Xerocytosis", "label_en": "Stomatocytic xerocytosis", "label_hira": "", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200923", "id": "NANDO:2200923", "label_ja": "自己免疫性腸症", "label_en": "Autoimmune enteropathy", "label_hira": "じこめんえきせいちょうしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200925", "id": "NANDO:2200925", "label_ja": "非特異性多発性小腸潰瘍症", "label_en": "Chronic nonspecific multiple ulcers of the small intestine", "label_hira": "ひとくいせいたはつせいしょうちょうかいようしょう", "notification_number": "34", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200937", "id": "NANDO:2200937", "label_ja": "肝硬変症", "label_en": "Liver cirrhosis", "label_hira": "かんこうへんしょう", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200958", "id": "NANDO:2200958", "label_ja": "コルネリア・デランゲ症候群", "label_en": "Cornelia de Lange syndrome", "label_hira": "こるねりあ・でらんげしょうこうぐん", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200984", "id": "NANDO:2200984", "label_ja": "MECP2重複症候群", "label_en": "MECP2 duplication syndrome", "label_hira": "えむいーしーぴー2ちょうふくしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200985", "id": "NANDO:2200985", "label_ja": "武内・小崎症候群", "label_en": "Takenouchi-Kosaki syndrome", "label_hira": "たけのうち・こさきしょうこうぐん", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200990", "id": "NANDO:2200990", "label_ja": "表在性表皮融解性魚鱗癬", "label_en": "Superficial epidermolytic ichthyosis", "label_hira": "ひょうざいせいひょうひゆうかいせいぎょりんせん", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200992", "id": "NANDO:2200992", "label_ja": "道化師様魚鱗癬", "label_en": "Harlequin ichthyosis", "label_hira": "どうけしようぎょりんせん", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200995", "id": "NANDO:2200995", "label_ja": "2から6までに掲げるもののほか、先天性魚鱗癬", "label_en": "Other congenital ichthyoses", "label_hira": "2から6までにかかげるもののほか、せんてんせいぎょりんせん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201005", "id": "NANDO:2201005", "label_ja": "無汗性外胚葉形成不全", "label_en": "Anhidrotic ectodermal dysplasia", "label_hira": "むかんせいがいはいようけいせいふぜん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201010", "id": "NANDO:2201010", "label_ja": "軟骨低形成症", "label_en": "Hypochondroplasia", "label_hira": "なんこつていけいせいしょう", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201021", "id": "NANDO:2201021", "label_ja": "TRPV4異常症", "label_en": "Transient receptor potential cation channel, vanilloid subfamily, member 4 -associated disorders", "label_hira": "てぃあーるぴーぶい4いじょうしょう", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201028", "id": "NANDO:2201028", "label_ja": "巨大静脈奇形", "label_en": "Gigantic venous malformation", "label_hira": "きょだいじょうみゃくきけい", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201030", "id": "NANDO:2201030", "label_ja": "クリッペル・トレノネー・ウェーバー症候群", "label_en": "Klippel-Trenaunay-Weber syndrome", "label_hira": "くりっぺる・とれのねー・うぇーばーしょうこうぐん", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201031", "id": "NANDO:2201031", "label_ja": "原発性リンパ浮腫", "label_en": "Primary lymphedema", "label_hira": "げんぱつせいりんぱふしゅ", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201035", "id": "NANDO:2201035", "label_ja": "カサバッハ・メリット症候群", "label_en": "Kasabach-Merritt syndrome", "label_hira": "かさばっは・めりっとしょうこうぐん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201054", "id": "NANDO:2201054", "label_ja": "家族性甲状腺髄様癌", "label_en": "Medullary thyroid carcinoma", "label_hira": "かぞくせいこうじょうせんずいようがん", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201061", "id": "NANDO:2201061", "label_ja": "若年性特発性関節炎（分類不能関節炎）", "label_en": "Unclassifiable Juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（ぶんるいふのうかんせつえん）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201062", "id": "NANDO:2201062", "label_ja": "弓分岐閉塞型高安動脈炎", "label_en": "Takayasu arteritis with occlusion of aortic arch", "label_hira": "きゅうぶんきへいそくがたたかやすどうみゃくえん", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201080", "id": "NANDO:2201080", "label_ja": "間欠型メープルシロップ尿症", "label_en": "Intermittent maple syrup urine disease", "label_hira": "かんけつがためーぷるしろっぷにょうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201081", "id": "NANDO:2201081", "label_ja": "チアミン反応型メープルシロップ尿症", "label_en": "Thiamine-responsive maple syrup urine disease", "label_hira": "ちあみんはんのうがためーぷるしろっぷにょうしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201097", "id": "NANDO:2201097", "label_ja": "新生児期発症型アルギニノコハク酸尿症", "label_en": "Neonatal-onset argininosuccinic aciduria", "label_hira": "しんせいじきはっしょうがたあるぎにのこはくさんにょうしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201103", "id": "NANDO:2201103", "label_ja": "急性発症型メチルマロン酸血症", "label_en": "Acute-onset methylmalonic acidemia", "label_hira": "きゅうせいはっしょうがためちるまろんさんけっしょう", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201106", "id": "NANDO:2201106", "label_ja": "コバラミン代謝異常 cblB", "label_en": "Methylmalonic acidemia cblB type", "label_hira": "こばらみんたいしゃいじょう しーびーえるびー", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201109", "id": "NANDO:2201109", "label_ja": "コバラミン代謝異常 cblE", "label_en": "Methylcobalamin deficiency cblE type ", "label_hira": "こばらみんたいしゃいじょう しーびーえるいー", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201117", "id": "NANDO:2201117", "label_ja": "急性発症型イソ吉草酸血症", "label_en": "Acute-onset isovaleric acidemia", "label_hira": "きゅうせいはっしょうがたいそきっそうさんけっしょう", "notification_number": "95", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201123", "id": "NANDO:2201123", "label_ja": "慢性進行型複合カルボキシラーゼ欠損症", "label_en": "Chronic progressive multiple carboxylase deficiency", "label_hira": "まんせいしんこうがたふくごうかるぼきしらーぜけっそんしょう", "notification_number": "105", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201141", "id": "NANDO:2201141", "label_ja": "乳児期発症型極長鎖アシルCoA脱水素酵素欠損症", "label_en": "Infant-onset very-long-chain acyl-CoA dehydrogenase deficiency", "label_hira": "にゅうじきはっしょうがたごくちょうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201156", "id": "NANDO:2201156", "label_ja": "糖原病IIIb型", "label_en": "Glycogen storage disease type 3b", "label_hira": "とうげんびょう3びーがた", "notification_number": "64", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201193", "id": "NANDO:2201193", "label_ja": "新生児及び早期乳児型ガラクトシアリドーシス", "label_en": "Galactosialidosis, early infantile form", "label_hira": "しんせいじおよびそうきにゅうじがたがらくとしありどーしす", "notification_number": "113", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201206", "id": "NANDO:2201206", "label_ja": "ニーマン・ピック病A型", "label_en": "Niemann-Pick disease type A", "label_hira": "にーまん・ぴっくびょうえーがた", "notification_number": "122", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201213", "id": "NANDO:2201213", "label_ja": "古典型ファブリー病", "label_en": "Classical Fabry disease", "label_hira": "こてんがたふぁぶりーびょう", "notification_number": "124", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201214", "id": "NANDO:2201214", "label_ja": "亜型ファブリー病", "label_en": "Variant Fabry disease", "label_hira": "あがたふぁぶりーびょう", "notification_number": "124", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201218", "id": "NANDO:2201218", "label_ja": "若年型クラッベ病", "label_en": "Juvenile Krabbe disease", "label_hira": "じゃくねんがたくらっべびょう", "notification_number": "114", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201221", "id": "NANDO:2201221", "label_ja": "中間型ファーバー病", "label_en": "Type 2 Farber disease", "label_hira": "ちゅうかんがたふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201227", "id": "NANDO:2201227", "label_ja": "新生児型マルチプルスルファターゼ欠損症", "label_en": "Neonatal multiple sulfatase deficiency", "label_hira": "しんせいじがたまるちぷるするふぁたーぜけっそんしょう", "notification_number": "127", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200005", "id": "NANDO:1200005", "label_ja": "脊髄性筋萎縮症II型", "label_en": "Spinal muscular atrophy type II", "label_hira": "せきずいせいきんいしゅくしょう2がた", "notification_number": "3", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200013", "id": "NANDO:1200013", "label_ja": "神経有棘赤血球症", "label_en": "Neuroacanthocytosis", "label_hira": "しんけいゆうきょくせっけっきゅうしょう", "notification_number": "9", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200025", "id": "NANDO:1200025", "label_ja": "一次性進行型多発性硬化症", "label_en": "Primary progressive multiple sclerosis", "label_hira": "いちじせいしんこうがたたはつせいこうかしょう", "notification_number": "13", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200034", "id": "NANDO:1200034", "label_ja": "多系統萎縮症", "label_en": "Multiple system atrophy", "label_hira": "たけいとういしゅくしょう", "notification_number": "17", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200048", "id": "NANDO:1200048", "label_ja": "脊髄小脳失調症36型", "label_en": "Spinocerebellar ataxia type 36", "label_hira": "せきずいしょうのうしっちょうしょう36がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200063", "id": "NANDO:1200063", "label_ja": "ニーマン・ピック病C型", "label_en": "Niemann-Pick disease type C", "label_hira": "にーまん・ぴっくびょうしーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200066", "id": "NANDO:1200066", "label_ja": "GM1ガングリオシドーシス", "label_en": "GM1 gangliosidosis", "label_hira": "じーえむ1がんぐりおしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200067", "id": "NANDO:1200067", "label_ja": "乳児型GM1-ガングリオシドーシス", "label_en": "Infantile GM1 gangliosidosis", "label_hira": "にゅうじがたじーえむ1がんぐりおしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200081", "id": "NANDO:1200081", "label_ja": "成人型異染性白質ジストロフィー", "label_en": "Adult metachromatic leukodystrophy", "label_hira": "せいじんがたいせんせいはくしつじすとろふぃー", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200090", "id": "NANDO:1200090", "label_ja": "新生児型ファーバー病", "label_en": "Type 4 Farber disease", "label_hira": "しんせいじがたふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200091", "id": "NANDO:1200091", "label_ja": "進行性神経障害型ファーバー病", "label_en": "Type 5 Farber disease", "label_hira": "しんこうせいしんけいしょうがいがたふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200099", "id": "NANDO:1200099", "label_ja": "ハンター症候群（軽症型）", "label_en": "Hunter syndrome type B", "label_hira": "はんたーしょうこうぐん（けいしょうがた）", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200100", "id": "NANDO:1200100", "label_ja": "サンフィリッポ症候群", "label_en": "Sanfilippo disease", "label_hira": "さんふぃりっぽしょうこうぐん", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200130", "id": "NANDO:1200130", "label_ja": "フコシドーシス", "label_en": "Fucosidosis", "label_hira": "ふこしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200143", "id": "NANDO:1200143", "label_ja": "ウォルマン病", "label_en": "Wolman disease", "label_hira": "うぉるまんびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200146", "id": "NANDO:1200146", "label_ja": "遊離シアル酸蓄積症", "label_en": "Free sialic acid storage disease", "label_hira": "ゆうりしあるさんちくせきしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200165", "id": "NANDO:1200165", "label_ja": "副腎白質ジストロフィー", "label_en": "Adrenoleukodystrophy", "label_hira": "ふくじんはくしつじすとろふぃー", "notification_number": "20", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200174", "id": "NANDO:1200174", "label_ja": "慢性進行性外眼筋麻痺症候群", "label_en": "Chronic progressive external ophthalmoplegia", "label_hira": "まんせいしんこうせいがいがんきんまひしょうこうぐん", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200181", "id": "NANDO:1200181", "label_ja": "複合体II欠損症", "label_en": "Mitochondrial complex II deficiency", "label_hira": "ふくごうたい2けっそんしょう", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200183", "id": "NANDO:1200183", "label_ja": "もやもや病", "label_en": "Moyamoya disease", "label_hira": "もやもやびょう", "notification_number": "22", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200198", "id": "NANDO:1200198", "label_ja": "亜急性進行型硬化性全脳炎", "label_en": "Subacute progressive sclerosing panencephalitis", "label_hira": "あきゅうせいしんこうがたこうかせいぜんのうえん", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200205", "id": "NANDO:1200205", "label_ja": "進行性多巣性白質脳症", "label_en": "Progressive multifocal leukoencephalopathy", "label_hira": "しんこうせいたそうせいはくしつのうしょう", "notification_number": "25", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200234", "id": "NANDO:1200234", "label_ja": "表皮水疱症", "label_en": "Epidermolysis bullosa", "label_hira": "ひょうひすいほうしょう", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200236", "id": "NANDO:1200236", "label_ja": "接合部型表皮水疱症", "label_en": "Junctional epidermolysis bullosa", "label_hira": "せつごうぶがたひょうひすいほうしょう", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200239", "id": "NANDO:1200239", "label_ja": "キンドラー症候群", "label_en": "Kindler syndrome", "label_hira": "きんどらーしょうこうぐん", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200246", "id": "NANDO:1200246", "label_ja": "中毒性表皮壊死症", "label_en": "Toxic epidermal necrolysis", "label_hira": "ちゅうどくせいひょうひえししょう", "notification_number": "39", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200261", "id": "NANDO:1200261", "label_ja": "結節性多発動脈炎", "label_en": "Polyarteritis nodosa", "label_hira": "けっせつせいたはつどうみゃくえん", "notification_number": "42", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200275", "id": "NANDO:1200275", "label_ja": "無筋症性皮膚筋炎", "label_en": "Amyopathic dermatomyositis", "label_hira": "むきんしょうせいひふきんえん", "notification_number": "50", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200283", "id": "NANDO:1200283", "label_ja": "再発性多発軟骨炎", "label_en": "Relapsing polychondritis", "label_hira": "さいはつせいたはつなんこつえん", "notification_number": "55", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200284", "id": "NANDO:1200284", "label_ja": "ベーチェット病", "label_en": "Behcet's disease", "label_hira": "べーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200292", "id": "NANDO:1200292", "label_ja": "拘束型心筋症", "label_en": "Restrictive cardiomyopathy", "label_hira": "こうそくがたしんきんしょう", "notification_number": "59", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200307", "id": "NANDO:1200307", "label_ja": "寒冷凝集素症", "label_en": "Cold agglutinin disease", "label_hira": "かんれいぎょうしゅうそしょう", "notification_number": "61", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200310", "id": "NANDO:1200310", "label_ja": "エヴァンズ症候群", "label_en": "Evans syndrome", "label_hira": "えばんずしょうこうぐん", "notification_number": "61", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1000001", "id": "NANDO:1000001", "label_ja": "指定難病", "label_en": "Designated intractable disease", "label_hira": "していなんびょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100003", "id": "NANDO:1100003", "label_ja": "皮膚・結合組織疾患", "label_en": "Skin and connective tissue disease", "label_hira": "ひふ・けつごうそしきしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100004", "id": "NANDO:1100004", "label_ja": "免疫系疾患", "label_en": "Immune system disease", "label_hira": "めんえきけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200149", "id": "NANDO:1200149", "label_ja": "obsolete サラ病", "label_en": "obsolete Salla disease", "label_hira": "さらびょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200316", "id": "NANDO:1200316", "label_ja": "血栓性血小板減少性紫斑病", "label_en": "Thrombotic thrombocytopenic purpura", "label_hira": "けっせんせいけっしょうばんげんしょうせいしはんびょう", "notification_number": "64", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200323", "id": "NANDO:1200323", "label_ja": "アデノシンデアミナーゼ欠損症", "label_en": "Adenosine deaminase deficiency", "label_hira": "あでのしんであみなーぜけっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200332", "id": "NANDO:1200332", "label_ja": "ナイミーヘン染色体不安定症候群", "label_en": "Nijmegen breakage syndrome", "label_hira": "ないみーへんせんしょくたいふあんていしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200339", "id": "NANDO:1200339", "label_ja": "胸腺低形成", "label_en": "Thymus hypoplasia", "label_hira": "きょうせんていけいせい", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200370", "id": "NANDO:1200370", "label_ja": "黄色靱帯骨化症", "label_en": "Ossification of ligamentum flavum", "label_hira": "おうしょくじんたいこっかしょう", "notification_number": "68", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200378", "id": "NANDO:1200378", "label_ja": "下垂体性PRL分泌亢進症", "label_en": "Diencephalo-hypophysial insufficiency-inappropriate prolactin syndrome", "label_hira": "かすいたいせいぴーあーるえるぶんぴつこうしんしょう", "notification_number": "74", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200387", "id": "NANDO:1200387", "label_ja": "下垂体前葉機能低下症", "label_en": "Hypopituitarism syndrome", "label_hira": "かすいたいぜんようきのうていかしょう", "notification_number": "78", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200415", "id": "NANDO:1200415", "label_ja": "サルコイドーシス", "label_en": "Sarcoidosis", "label_hira": "さるこいどーしす", "notification_number": "84", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200420", "id": "NANDO:1200420", "label_ja": "急性間質性肺炎", "label_en": "Acute interstitial pneumonia", "label_hira": "きゅうせいかんしつせいはいえん", "notification_number": "85", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200445", "id": "NANDO:1200445", "label_ja": "小腸型クローン病", "label_en": "small bowel Crohn disease", "label_hira": "しょうちょうがたくろーんびょう", "notification_number": "96", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200467", "id": "NANDO:1200467", "label_ja": "マックル・ウェルズ症候群", "label_en": "Muckle-Wells syndrome", "label_hira": "まっくる・うぇるずしょうこうぐん", "notification_number": "106", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200468", "id": "NANDO:1200468", "label_ja": "慢性乳児神経皮膚関節症候群", "label_en": "Chronic infantile neurological cutaneous articular syndrome", "label_hira": "まんせいにゅうじしんけいひふかんせつしょうこうぐん", "notification_number": "106", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200483", "id": "NANDO:1200483", "label_ja": "先天性筋線維不均等症", "label_en": "Congenital fiber-type disproportion myopathy", "label_hira": "せんてんせいきんせんいふきんとうしょう", "notification_number": "111", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200507", "id": "NANDO:1200507", "label_ja": "症候性脊髄空洞症", "label_en": "Symptomatic syringomyelia", "label_hira": "しょうこうせいせきずいくうどうしょう", "notification_number": "117", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200523", "id": "NANDO:1200523", "label_ja": "DYT12ジストニア", "label_en": "Dystonia 12", "label_hira": "でぃーわいてぃー12じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200527", "id": "NANDO:1200527", "label_ja": "DYT13ジストニア", "label_en": "Dystonia 13", "label_hira": "でぃーわいてぃー13じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200529", "id": "NANDO:1200529", "label_ja": "DYT16ジストニア", "label_en": "Dystonia 16", "label_hira": "でぃーわいてぃー16じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200531", "id": "NANDO:1200531", "label_ja": "DYT18ジストニア", "label_en": "Dystonia 18", "label_hira": "でぃーわいてぃー18じすとにあ", "notification_number": "120", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200543", "id": "NANDO:1200543", "label_ja": "脳表ヘモジデリン沈着症", "label_en": "Superficial siderosis", "label_hira": "のうひょうへもじでりんちんちゃくしょう", "notification_number": "122", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200552", "id": "NANDO:1200552", "label_ja": "痙攣重積型（二相性）急性脳症", "label_en": "Acute encephalopathy with biphasic seizures and late reduced diffusion", "label_hira": "けいれんじゅうせきがた（にそうせい）きゅうせいのうしょう", "notification_number": "129", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200572", "id": "NANDO:1200572", "label_ja": "限局性皮質異形成タイプ3c", "label_en": "Focal cortical dysplasia type 3c", "label_hira": "げんきょくせいひしついけいせいたいぷ3しー", "notification_number": "137", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200587", "id": "NANDO:1200587", "label_ja": "ドラベ症候群", "label_en": "Dravet syndrome", "label_hira": "どらべしょうこうぐん", "notification_number": "140", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200590", "id": "NANDO:1200590", "label_ja": "ミオクロニー脱力発作を伴うてんかん", "label_en": "Epilepsy with myoclonic atonic seizures", "label_hira": "みおくろにーだつりょくほっさをともなうてんかん", "notification_number": "143", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200591", "id": "NANDO:1200591", "label_ja": "レノックス・ガストー症候群", "label_en": "Lennox-Gastaut syndrome", "label_hira": "れのっくす・がすとーしょうこうぐん", "notification_number": "144", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200601", "id": "NANDO:1200601", "label_ja": "睡眠時棘徐波活性化を示す発達性てんかん性脳症およびてんかん性脳症", "label_en": "Developmental and/or epileptic encephalopathy with spike-wave activation in sleep", "label_hira": "すいみんじきょくじょはかっせいかをしめすはったつせいてんかんせいのうしょうおよびてんかんせいのうしょう", "notification_number": "154", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200637", "id": "NANDO:1200637", "label_ja": "眼皮膚白皮症", "label_en": "Oculocutaneous albinism", "label_hira": "がんひふはくひしょう", "notification_number": "164", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200384", "id": "NANDO:1200384", "label_ja": "obsolete 続発性ゴナドトロピン分泌低下症", "label_en": "obsolete Acquired hypogonadotropic hypogonadism", "label_hira": "ぞくはつせいごなどとろぴんぶんぴつていかしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200654", "id": "NANDO:1200654", "label_ja": "オクシピタル・ホーン症候群", "label_en": "Occipital horn 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"202", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200691", "id": "NANDO:1200691", "label_ja": "脆弱 X 随伴振戦/失調症候群", "label_en": "Fragile X tremor/ataxia syndrome", "label_hira": "ぜいじゃくえっくすずいはんしんせん/しっちょうしょうこうぐん", "notification_number": "205", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200705", "id": "NANDO:1200705", "label_ja": "左心低形成症候群", "label_en": "Hypoplastic left heart syndrome", "label_hira": "さしんていけいせいしょうこうぐん", "notification_number": "211", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200707", "id": "NANDO:1200707", "label_ja": "心室中隔欠損を伴わない肺動脈閉鎖症", "label_en": "Pulmonary atresia with intact ventricular septum", "label_hira": "しんしつちゅうかくけっそんをともなわないはいどうみゃくへいさしょう", "notification_number": "213", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200717", "id": "NANDO:1200717", "label_ja": "急速進行性糸球体腎炎（抗GBM抗体陽性）", "label_en": "Anti-GBM rapidly progressive glomerulonephritis", "label_hira": "きゅうそくしんこうせいしきゅうたいじんえん（こうじーびーえむこうたいようせい）", "notification_number": "220", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200718", "id": "NANDO:1200718", "label_ja": "抗糸球体基底膜腎炎", "label_en": "Goodpasture syndrome", "label_hira": "こうしきゅうたいきていまくじんえん", "notification_number": "221", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200725", "id": "NANDO:1200725", "label_ja": "一次性膜性増殖性糸球体腎炎", "label_en": "Primary membranoproliferative glomerulonephritis", "label_hira": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "223", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200746", "id": "NANDO:1200746", "label_ja": "肺胞蛋白症", "label_en": "Pulmonary alveolar proteinosis", "label_hira": "はいほうたんぱくしょう", "notification_number": "229", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200751", "id": "NANDO:1200751", "label_ja": "肺胞低換気症候群", "label_en": "Alveolar hypoventilation syndrome", "label_hira": "はいほうていかんきしょうこうぐん", "notification_number": "230", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200776", "id": "NANDO:1200776", "label_ja": "偽性副甲状腺機能低下症", "label_en": "Pseudohypoparathyroidism", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう", "notification_number": "236", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200788", "id": "NANDO:1200788", "label_ja": "高チロシン血症1型", "label_en": "Tyrosinemia type 1", "label_hira": "こうちろしんけっしょう1がた", "notification_number": "241", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200790", "id": "NANDO:1200790", "label_ja": "高チロシン血症3型", "label_en": "Tyrosinemia type 3", "label_hira": "こうちろしんけっしょう3がた", "notification_number": "243", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200791", "id": "NANDO:1200791", "label_ja": "メープルシロップ尿症", "label_en": "Maple syrup urine disease", "label_hira": "めーぷるしろっぷにょうしょう", "notification_number": "244", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200793", "id": "NANDO:1200793", "label_ja": "メチルマロン酸血症", "label_en": "Methylmalonic acidemia", "label_hira": "めちるまろんさんけっしょう", "notification_number": "246", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200819", "id": "NANDO:1200819", "label_ja": "肝性骨髄性ポルフィリン症", "label_en": "Hepatoerythropoietic porphyria", "label_hira": "かんせいこつずいせいぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200840", "id": "NANDO:1200840", "label_ja": "肝型糖原病Ia型", "label_en": "Hepatic glycogen storage disease type Ia", "label_hira": "かんがたとうげんびょう1えーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200844", "id": "NANDO:1200844", "label_ja": "肝型糖原病IIIc型", "label_en": "Hepatic glycogen storage disease type IIIc", "label_hira": "かんがたとうげんびょう3しーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200849", "id": "NANDO:1200849", "label_ja": "肝型糖原病IXc型", "label_en": "Hepatic glycogen storage disease type IXc", "label_hira": "かんがたとうげんびょう9しーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200850", "id": "NANDO:1200850", "label_ja": "肝型糖原病IV型", "label_en": "Hepatic glycogen storage disease type IV", "label_hira": "かんがたとうげんびょう4がた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200867", "id": "NANDO:1200867", "label_ja": "中條・西村症候群", "label_en": "Nakajo-Nishimura syndrome", "label_hira": "なかじょう・にしむらしょうこうぐん", "notification_number": "268", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200878", "id": "NANDO:1200878", "label_ja": "リンパ管腫症/ゴーハム病", "label_en": "Lymphangiomatosis / Gorham-Stout disease", "label_hira": "りんぱかんしゅしょう／ごーはむびょう", "notification_number": "277", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200882", "id": "NANDO:1200882", "label_ja": "巨大静脈奇形（頚部口腔咽頭びまん性病変）", "label_en": "Giant venous malformation (cervical, oral and oropharyngeal diffuse lesion)", "label_hira": "きょだいじょうみゃくきけい（けいぶこうくういんとうびまんせいびょうへん）", "notification_number": "279", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200896", "id": "NANDO:1200896", "label_ja": "自己免疫性後天性凝固因子欠乏症", "label_en": "Autoimmune acquired coagulation factor deficiency", "label_hira": "じこめんえきせいこうてんせいぎょうこいんしけつぼうしょう", "notification_number": "288", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200903", "id": "NANDO:1200903", "label_ja": "ヒルシュスプルング病", "label_en": "Hirschsprung disease", "label_hira": "ひるしゅすぷるんぐびょう", "notification_number": "291", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200904", "id": "NANDO:1200904", "label_ja": "直腸下部型ヒルシュスプルング病", "label_en": "Short-segment Hirschsprung's disease", "label_hira": "ちょくちょうかぶがたひるしゅすぷるんぐびょう", "notification_number": "291", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200913", "id": "NANDO:1200913", "label_ja": "胆道閉鎖症", "label_en": "Biliary atresia", "label_hira": "たんどうへいさしょう", "notification_number": "296", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200916", "id": "NANDO:1200916", "label_ja": "II型胆道閉鎖症", "label_en": "Type II biliary atresia", "label_hira": "2がたたんどうへいさしょう", "notification_number": "296", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200930", "id": "NANDO:1200930", "label_ja": "IgG4関連腎臓病", "label_en": "IgG4-related kidney disease", "label_hira": "あいじーじー4かんれんじんぞうびょう", "notification_number": "300", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200934", "id": "NANDO:1200934", "label_ja": "オカルト黄斑ジストロフィー", "label_en": "Occult macular dystrophy", "label_hira": "おかるとおうはんじすとろふぃー", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200945", "id": "NANDO:1200945", "label_ja": "若年発症型両側性感音難聴", "label_en": "Juvenile bilateral sensorineural hearing loss", "label_hira": "じゃくねんはっしょうがたりょうそくせいかんおんなんちょう", "notification_number": "304", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200951", "id": "NANDO:1200951", "label_ja": "白質消失病", "label_en": "Vanishing white matter disease", "label_hira": "はくしつしょうしつびょう", "notification_number": "308", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200952", "id": "NANDO:1200952", "label_ja": "卵巣機能障害を伴う進行性白質脳症", "label_en": "Leukoencephalopathy, progressive, with ovarian failure", "label_hira": "らんそうきのうしょうがいをともなうしんこうせいはくしつのうしょう", "notification_number": "308", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200965", "id": "NANDO:1200965", "label_ja": "左肺動脈右肺動脈起始症", "label_en": "Vascular sling", "label_hira": "ひだりはいどうみゃくみぎはいどうみゃくきししょう", "notification_number": "314", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200969", "id": "NANDO:1200969", "label_ja": "カルニチン回路異常症", "label_en": "Carnitine cycle disorders", "label_hira": "かるにちんかいろいじょうしょう", "notification_number": "316", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200734", "id": "NANDO:1200734", "label_ja": "obsolete 管内増殖型急性・びまん型膜性増殖性糸球体腎炎", "label_en": "obsolete Acute diffuse endocapillary membranoproliferative glomerulonephritis type I", "label_hira": "かんないぞうしょくがたきゅうせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200987", "id": "NANDO:1200987", "label_ja": "β-ケトチオラーゼ欠損症", "label_en": "Beta-ketothiolase deficiency", "label_hira": "べーたけとちおらーぜけっそんしょう", "notification_number": "322", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201011", "id": "NANDO:1201011", "label_ja": "限局皮膚硬化型全身性強皮症", "label_en": "Limited cutaneous systemic sclerosis", "label_hira": "げんきょくひふこうかがたぜんしんせいきょうひしょう", "notification_number": "51", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201019", "id": "NANDO:1201019", "label_ja": "肝型糖原病III型", "label_en": "Hepatic glycogen storage disease type III", "label_hira": "かんがたとうげんびょう3がた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201024", "id": "NANDO:1201024", "label_ja": "単相型慢性炎症性脱髄性多発神経炎", "label_en": "Monophasic chronic inflammatory demyelinating polyneuropathy", "label_hira": "たんそうがたまんせいえんしょうせいだつずいせいたはつしんけいえん", "notification_number": "14", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201032", "id": "NANDO:1201032", "label_ja": "脳クレアチン欠乏症候群", "label_en": "Cerebral creatine deficiency syndromes", "label_hira": "のうくれあちんけつぼうしょうこうぐん", "notification_number": "334", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201037", "id": "NANDO:1201037", "label_ja": "家族性低βリポタンパク血症1（ホモ接合体）", "label_en": "Homozygous familial hypobetalipoproteinemia 1", "label_hira": "かぞくせいていべーたりぽたんぱくけっしょう1（ほもせつごうたい）", "notification_number": "336", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201040", "id": "NANDO:1201040", "label_ja": "ホモシスチン尿症II型", "label_en": "Homocystinuria type 2", "label_hira": "ほもしすちんにょうしょう2がた", "notification_number": "337", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201046", "id": "NANDO:1201046", "label_ja": "進行性家族性肝内胆汁うっ滞症4型", "label_en": "Progressive familial intrahepatic cholestasis type 4", "label_hira": "しんこうせいかぞくせいかんないたんじゅううったいしょう4がた", "notification_number": "338", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201056", "id": "NANDO:1201056", "label_ja": "終板アセチルコリンエステラーゼ欠損症", "label_en": "End-plate acetylcholine esterase deficiency", "label_hira": "しゅうばんあせちるこりんえすてらーぜけっそんしょう", "notification_number": "12", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201058", "id": "NANDO:1201058", "label_ja": "ラパデリノ症候群", "label_en": "RAPADILINO syndrome", "label_hira": "らぱでりのしょうこうぐん", "notification_number": "186", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201089", "id": "NANDO:1201089", "label_ja": "筋拘縮型エーラス・ダンロス症候群", "label_en": "Musculocontractural Ehlers-Danlos syndrome", "label_hira": "きんこうしゅくがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201096", "id": "NANDO:1201096", "label_ja": "線毛機能不全症候群（カルタゲナー症候群を含む。）", "label_en": "Primary ciliary dyskinesia (including Kartagener syndrome)", "label_hira": "せんもうきのうふぜんしょうこうぐん（かるたげなーしょうこうぐんをふくむ）", "notification_number": "340", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201105", "id": "NANDO:1201105", "label_ja": "続発性中枢性尿崩症", "label_en": "Secondary central diabetes insipidu", "label_hira": "ぞくはつせいちゅうすうせいにょうほうしょう", "notification_number": "72", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100010", "id": "NANDO:2100010", "label_ja": "慢性糸球体腎炎", "label_en": "Chronic glomerulonephritis", "label_hira": "まんせいしきゅうたいじんえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100016", "id": "NANDO:2100016", "label_ja": "腎血管性高血圧", "label_en": "Renovascular hypertension", "label_hira": "じんけっかんせいこうけつあつ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100043", "id": "NANDO:2100043", "label_ja": "洞不全症候群", "label_en": "Sick sinus syndrome", "label_hira": "どうふぜんしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100053", "id": "NANDO:2100053", "label_ja": "QT延長症候群", "label_en": "Long QT syndrome", "label_hira": "きゅーてぃーえんちょうしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100055", "id": "NANDO:2100055", "label_ja": "不整脈源性右室心筋症", "label_en": "Arrhythmogenic right ventricular cardiomyopathy or dysplasia", "label_hira": "ふせいみゃくげんせいうしつしんきんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100067", "id": "NANDO:2100067", "label_ja": "冠動脈起始異常", "label_en": "Abnormal origin of coronary artery from pulmonary artery", "label_hira": "かんどうみゃくきしいじょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100089", "id": "NANDO:2100089", "label_ja": "肺静脈狭窄症", "label_en": "Pulmonary venous obstruction", "label_hira": "はいじょうみゃくきょうさくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100097", "id": "NANDO:2100097", "label_ja": "一側肺動脈欠損", "label_en": "Unilateral absence of a pulmonary artery", "label_hira": "いっそくはいどうみゃくけっそん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100105", "id": "NANDO:2100105", "label_ja": "心臓弁膜症", "label_en": "Valvular heart disease", "label_hira": "しんぞうべんまくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100139", "id": "NANDO:2100139", "label_ja": "高ゴナドトロピン性性腺機能低下症", "label_en": "Hypergonadotropic hypogonadism", "label_hira": "こうごなどとろぴんせいせいせんきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100146", "id": "NANDO:2100146", "label_ja": "原発性低リン血症性くる病", "label_en": "Primary hypophosphatemic rickets", "label_hira": "げんぱつせいていりんけつしょうせいくるびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201379", "id": "NANDO:2201379", "label_ja": "非ヘルリッツ型表皮水疱症", "label_en": "Non-Herlitz junctional epidermolysis bullosa", "label_hira": "ひへるりっつがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201382", "id": "NANDO:2201382", "label_ja": "優性栄養障害型表皮水疱症", "label_en": "Dominant dystrophic epidermolysis bullosa", "label_hira": "ゆうせいえいようしょうがいがたひょうひすいほうしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201384", "id": "NANDO:2201384", "label_ja": "栄養障害型表皮水疱症（その他）", "label_en": "Other dystrophic epidermolysis bullosa", "label_hira": "えいようしょうがいがたひょうひすいほうしょう（そのた）", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201387", "id": "NANDO:2201387", "label_ja": "ADTKD-UMOD", "label_en": "ADTKD-UMOD", "label_hira": "えーでぃーてぃーけーでぃーゆーえむおーでぃー", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201395", "id": "NANDO:2201395", "label_ja": "DDX3X関連神経発達異常症", "label_en": "DDX3X-related neurodevelopmental disorder", "label_hira": "でぃーでぃーえっくす3えっくすかんれんしんけいはったついじょうしょう", "notification_number": "63", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201397", "id": "NANDO:2201397", "label_ja": "アイカルディ症候群", "label_en": "Aicardi syndrome", "label_hira": "あいかるでぃしょうこうぐん", "notification_number": "66", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201413", "id": "NANDO:2201413", "label_ja": "早産児ビリルビン脳症", "label_en": "Bilirubin encephalopathy in preterm infants", "label_hira": "そうざんじびりるびんのうしょう", "notification_number": "58", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201428", "id": "NANDO:2201428", "label_ja": "タナトフォリック骨異形成症2型", "label_en": "Thanatophoric dysplasia type 2", "label_hira": "たなとふぉりっくこついけいせいしょう2がた", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201449", "id": "NANDO:2201449", "label_ja": "総肺静脈還流異常症II型", "label_en": "Type 2 total anomalous pulmonary venous connection", "label_hira": "そうはいじょうみゃくかんりゅういじょうしょう2がた", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201451", "id": "NANDO:2201451", "label_ja": "総肺静脈還流異常症IV型", "label_en": "Type 4 total anomalous pulmonary venous connection", "label_hira": "そうはいじょうみゃくかんりゅういじょうしょう4がた", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201452", "id": "NANDO:2201452", "label_ja": "Romano-Ward症候群", "label_en": "Romano Ward syndrome", "label_hira": "ろまのわーどしょうこうぐん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201459", "id": "NANDO:2201459", "label_ja": "第XIII因子欠乏症I型", "label_en": "Type I factor XIII deficiency", "label_hira": "だいじゅうさんいんしけつぼうしょう1がた", "notification_number": "38", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201461", "id": "NANDO:2201461", "label_ja": "一側腎無形成", "label_en": "Unilateral renal agenesis", "label_hira": "いっそくじんむけいせい", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201466", "id": "NANDO:2201466", "label_ja": "全結腸型ヒルシュスプルング病", "label_en": "Entire colon Hirschsprung disease", "label_hira": "ぜんけっちょうがたひるしゅすぷるんぐびょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201474", "id": "NANDO:2201474", "label_ja": "特発性門脈圧亢進症", "label_en": "Idiopathic portal hypertension", "label_hira": "とくはつせいもんみゃくあつこうしんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201478", "id": "NANDO:2201478", "label_ja": "繊維芽細胞増殖因子23関連低リン血症性骨軟化症", "label_en": "FGF23-related hypophosphatemic osteomalacia", "label_hira": "せんいがさいぼうぞうしょくいんし23かんれんていりんけっしょうせいこつなんかしょう", "notification_number": "77", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201358", "id": "NANDO:2201358", "label_ja": "obsolete CHILD症候群", "label_en": "oboslete CHILD syndrome", "label_hira": "ちゃいるどしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201107", "id": "NANDO:1201107", "label_ja": "LMNB1 関連大脳白質脳症", "label_en": "Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy", "label_hira": "えるえむえぬびー1かんれんだいのうはくしつのうしょう", "notification_number": "342", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201113", "id": "NANDO:1201113", "label_ja": "PAI-1 欠乏症", "label_en": "PAI-1 deficiency", "label_hira": "ぷらすみのーげんあくちべーたいんひびたー1けつぼうしょう", "notification_number": "347", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201111", "id": "NANDO:1201111", "label_ja": "原発性肝外門脈閉塞症", "label_en": "Primary extrahepatic portal vein obstruction", "label_hira": "げんぱつせいかんがいもんみゃくへいそくしょう", "notification_number": "346", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201508", "id": "NANDO:2201508", "label_ja": "非ジストロフィー性ミオトニー症候群", "label_en": "Non-dystrophic myotonia", "label_hira": "ひじすとろふぃーせいみおとにーしょうこうぐん", "notification_number": "98", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201528", "id": "NANDO:2201528", "label_ja": "ロスムンド・トムソン症候群 type1", "label_en": "Rothmund-Thomson syndrome type1", "label_hira": "ろすむんど・とむそんしょうこうぐん たいぷ1", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201135", "id": "NANDO:1201135", "label_ja": "不完全型ベーチェット病", "label_en": "Incomplete Behçet’s disease", "label_hira": "ふかんぜんがたべーちぇっとびょう", "notification_number": "56", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201140", "id": "NANDO:1201140", "label_ja": "肝外型原発性硬化性胆管炎", "label_en": "Extrahepatic primary sclerosing cholangitis", "label_hira": "かんがいがたげんぱつせいこうかせいたんかんえん", "notification_number": "94", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201162", "id": "NANDO:1201162", "label_ja": "ファイファー症候群3型", "label_en": "Pfeiffer syndrome type 3", "label_hira": "ふぁいふぁーしょうこうぐん3がた", "notification_number": "183", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200144", "id": "NANDO:2200144", "label_ja": "尿細管性アシドーシス", "label_en": "Renal tubular acidosis", "label_hira": "にょうさいかんせいあしどーしす", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200146", "id": "NANDO:2200146", "label_ja": "バーター症候群", "label_en": "Bartter syndrome", "label_hira": "ばーたーしょうこうぐん", "notification_number": "30", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200147", "id": "NANDO:2200147", "label_ja": "腎尿管結石", "label_en": "Nephro- and urolithiasis", "label_hira": "じんにょうかんけっせき", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200149", "id": "NANDO:2200149", "label_ja": "慢性腎不全（急性尿細管壊死または腎虚血によるものに限る。）", "label_en": "Chronic renal failure due to acute tubular necrosis or renal ischemias", "label_hira": "まんせいじんふぜん（きゅうせいにょうさいかんえしまたはじんきょけつによるものにかぎる。）", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200151", "id": "NANDO:2200151", "label_ja": "慢性腎不全（腎虚血によるものに限る。）", "label_en": "Chronic renal failure due to renal ischemias", "label_hira": "まんせいじんふぜん（じんきょけつによるものにかぎる。）", "notification_number": "48", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200153", "id": "NANDO:2200153", "label_ja": "常染色体優性多発性嚢胞腎", "label_en": "Autosomal dominant polycystic kidney disease", "label_hira": "じょうせんしょくたいゆうせいたはつせいのうほうじん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200161", "id": "NANDO:2200161", "label_ja": "腎異形成", "label_en": "Renal dysplasia", "label_hira": "じんいけいせい", "notification_number": "13", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200183", "id": "NANDO:2200183", "label_ja": "尿管瘤", "label_en": "Ureteroceles", "label_hira": "にょうかんりゅう", "notification_number": "21", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200191", "id": "NANDO:2200191", "label_ja": "声門上狭窄症", "label_en": "Supraglottic stenosis", "label_hira": "せいもんじょうきょうさくしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200197", "id": "NANDO:2200197", "label_ja": "気管支喘息", "label_en": "Bronchial asthma", "label_hira": "きかんしぜんそく", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200208", "id": "NANDO:2200208", "label_ja": "慢性肺疾患", "label_en": "Chronic lung disease", "label_hira": "まんせいはいしっかん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200221", "id": "NANDO:2200221", "label_ja": "カテコラミン誘発多形性心室頻拍", "label_en": "Catecholaminergic polymorphic ventricular tachycardia", "label_hira": "かてこらみんゆうはつたけいせいしんしつひんぱく", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100204", "id": "NANDO:2100204", "label_ja": "免疫不全を伴う特徴的な症候群", "label_en": "Immunodeficiency", "label_hira": "めんえきふぜんをともなうとくちょうてきなしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100208", "id": "NANDO:2100208", "label_ja": "自然免疫異常", "label_en": "Defect in innate immunity", "label_hira": "しぜんめんえきいじょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100210", "id": "NANDO:2100210", "label_ja": "好酸球増加症", "label_en": "Hyper eosinophilic syndrome", "label_hira": "こうさんきゅうぞうかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100233", "id": "NANDO:2100233", "label_ja": "筋ジストロフィー", "label_en": "Muscular dystrophy", "label_hira": "きんじすとろふぃー", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100255", "id": "NANDO:2100255", "label_ja": "obsolete 微絨毛封入体病", "label_en": "obsolete Microvillus inclusion disease", "label_hira": "びじゅうもうふうにゅうたいびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100267", "id": "NANDO:2100267", "label_ja": "obsolete 先天性肝線維症", "label_en": "obsolete Congenital hepatic fibrosis", "label_hira": "せんてんせいかんせんいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100288", "id": "NANDO:2100288", "label_ja": "肥厚性皮膚骨膜症", "label_en": "Pachydermoperiostosis", "label_hira": "ひこうせいひふこつまくしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200233", "id": "NANDO:2200233", "label_ja": "拘束型心筋症", "label_en": "Restrictive cardiomyopathy", "label_hira": "こうそくがたしんきんしょう", "notification_number": "20", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200244", "id": "NANDO:2200244", "label_ja": "29及び30に掲げるもののほか、冠動脈起始異常", "label_en": "Other anomalous origin of coronary artery", "label_hira": "29および30にかかげるもののほか、かんどうみゃくきしいじょう", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200266", "id": "NANDO:2200266", "label_ja": "二次孔型心房中隔欠損症", "label_en": "Atrial septal defect, ostium secundum type", "label_hira": "にじこうがたしんぼうちゅうかくけっそんしょう", "notification_number": "50", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200278", "id": "NANDO:2200278", "label_ja": "肺動脈弁上狭窄症", "label_en": "Supravalvular pulmonary stenosis", "label_hira": "はいどうみゃくべんじょうきょうさくしょう", "notification_number": "80", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200281", "id": "NANDO:2200281", "label_ja": "肺動脈上行大動脈起始症", "label_en": "Origin of pulmonary artery from ascending aorta", "label_hira": "はいどうみゃくじょうこうだいどうみゃくきししょう", "notification_number": "82", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200308", "id": "NANDO:2200308", "label_ja": "僧帽弁弁上輪", "label_en": "Supramitral ring", "label_hira": "そうぼうべんべんじょうりん", "notification_number": "55", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200310", "id": "NANDO:2200310", "label_ja": "多脾症候群", "label_en": "Polysplenia syndrome", "label_hira": "たひしょうこうぐん", "notification_number": "74", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200319", "id": "NANDO:2200319", "label_ja": "特発性成長ホルモン分泌不全性低身長症", "label_en": "Idiopathic growth hormone deficiency", "label_hira": "とくはつせいせいちょうほるもんぶんぴつふぜんせいていしんちょうしょう", "notification_number": "46", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200347", "id": "NANDO:2200347", "label_ja": "自己免疫性多内分泌腺症候群2型", "label_en": "Autoimmune polyendocrinopathy type 2", "label_hira": "じこめんえきせいたないぶんぴつせんしょうこうぐん 2がた", "notification_number": "36", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200348", "id": "NANDO:2200348", "label_ja": "偽性偽性副甲状腺機能低下症", "label_en": "Pseudopseudohypoparathyroidism", "label_hira": "ぎせいぎせいふくこうじょうせんきのうていかしょう", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200349", "id": "NANDO:2200349", "label_ja": "偽性副甲状腺機能低下症", "label_en": "Pseudohypoparathyroidism", "label_hira": "ぎせいふくこうじょうせんきのうていかしょう", "notification_number": "9", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200356", "id": "NANDO:2200356", "label_ja": "副腎皮質刺激ホルモン不応症", "label_en": "ACTH unresponsiveness", "label_hira": "ふくじんひしつしげきほるもんふおうしょう", "notification_number": "84", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200362", "id": "NANDO:2200362", "label_ja": "見かけの鉱質コルチコイド過剰症候群", "label_en": "Apparent mineralocorticoid excess syndrome", "label_hira": "みかけのこうしつこるちこいどかじょうしょうこうぐん", "notification_number": "86", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200376", "id": "NANDO:2200376", "label_ja": "50から55までに掲げるもののほか、先天性副腎過形成症", "label_en": "Other congenital adrenal hyperplasia", "label_hira": "50から55までにかかげるもののほか、せんてんせいふくじんかけいせいしょう", "notification_number": "62", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200389", "id": "NANDO:2200389", "label_ja": "5α-還元酵素欠損症", "label_en": "5 alpha-reductase deficiency", "label_hira": "5あるふぁかんげんこうそけっそんしょう", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200407", "id": "NANDO:2200407", "label_ja": "84及び85に掲げるもののほか、多発性内分泌腫瘍", "label_en": "Other multiple endocrine neoplasia", "label_hira": "84および85にかかげるもののほか、たはつせいないぶんぴつしゅよう", "notification_number": "66", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200411", "id": "NANDO:2200411", "label_ja": "プラダー・ウィリ症候群", "label_en": "Prader-Willi syndrome", "label_hira": "ぷらだー・うぃりしょうこうぐん", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200426", "id": "NANDO:2200426", "label_ja": "顕微鏡的多発血管炎", "label_en": "Microscopic polyangiitis", "label_hira": "けんびきょうてきたはつけっかんえん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200433", "id": "NANDO:2200433", "label_ja": "TNF受容体関連周期性症候群", "label_en": "TNF receptor-associated periodic fever syndrome", "label_hira": "てぃーえぬえふじゅようたいかんれんしゅうきせいしょうこうぐん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200463", "id": "NANDO:2200463", "label_ja": "新生児糖尿病", "label_en": "Neonatal diabetes mellitus", "label_hira": "しんせいじとうにょうびょう", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200482", "id": "NANDO:2200482", "label_ja": "高アルギニン血症", "label_en": "Hyperargininemia", "label_hira": "こうあるぎにんけっしょう", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200512", "id": "NANDO:2200512", "label_ja": "極長鎖アシルCoA脱水素酵素欠損症", "label_en": "Very-long-chain acyl-CoA dehydrogenase deficiency", "label_hira": "ごくちょうさあしるこえーだっすいそこうそけっそんしょう", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200519", "id": "NANDO:2200519", "label_ja": "ピルビン酸カルボキシラーゼ欠損症", "label_en": "Pyruvate carboxylase deficiency", "label_hira": "ぴるびんさんかるぼきしらーぜけっそんしょう", "notification_number": "86", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200523", "id": "NANDO:2200523", "label_ja": "ミトコンドリアDNA枯渇症候群", "label_en": "Mitochondrial DNA depletion syndrome", "label_hira": "みとこんどりあでぃーえぬえーこかつしょうこうぐん", "notification_number": "91", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200534", "id": "NANDO:2200534", "label_ja": "ウリジル二リン酸ガラクトース-4-エピメラーゼ欠損症", "label_en": "UDP-galactose-4-epimerase deficiency", "label_hira": "うりじるにりんさんがらくとーす4えぴめらーぜけっそんしょう", "notification_number": "58", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200550", "id": "NANDO:2200550", "label_ja": "ムコ多糖症IV型", "label_en": "Mucopolysaccharidosis type IV", "label_hira": "むこたとうしょう4がた", "notification_number": "132", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200551", "id": "NANDO:2200551", "label_ja": "ムコ多糖症VI型", "label_en": "Mucopolysaccharidosis type VI", "label_hira": "むこたとうしょう6がた", "notification_number": "133", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200562", "id": "NANDO:2200562", "label_ja": "ゴーシェ病", "label_en": "Gaucher disease", "label_hira": "ごーしぇびょう", "notification_number": "115", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200563", "id": "NANDO:2200563", "label_ja": "ファブリー病", "label_en": "Fabry disease", "label_hira": "ふぁぶりーびょう", "notification_number": "124", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200568", "id": "NANDO:2200568", "label_ja": "ムコリピドーシスIII型", "label_en": "Mucolipidosis III", "label_hira": "むこりぴどーしす3がた", "notification_number": "136", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200591", "id": "NANDO:2200591", "label_ja": "114から118までに掲げるもののほか、プリンピリミジン代謝異常症", "label_en": "Other disorders of purine and pyrimidine metabolism", "label_hira": "114から118までにかかげるもののほか、ぷりんぴりみじんたいしゃいじょうしょう", "notification_number": "80", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200603", "id": "NANDO:2200603", "label_ja": "家族性複合型高脂血症", "label_en": "Familial combined hyperlipidemia", "label_hira": "かぞくせいふくごうがたこうしけっしょう", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200615", "id": "NANDO:2200615", "label_ja": "先天性赤血球形成異常性貧血", "label_en": "Congenital dyserythropoietic anemia", "label_hira": "せんてんせいせっけっきゅうけいせいいじょうせいひんけつ", "notification_number": "43", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200619", "id": "NANDO:2200619", "label_ja": "発作性寒冷ヘモグロビン尿症", "label_en": "Paroxysmal cold hemoglobinuria", "label_hira": "ほっさせいかんれいへもぐろびんにょうしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200625", "id": "NANDO:2200625", "label_ja": "不安定ヘモグロビン症", "label_en": "Unstable hemoglobin disease", "label_hira": "ふあんていへもぐろびんしょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200638", "id": "NANDO:2200638", "label_ja": "微小血管障害性溶血性貧血", "label_en": "Microangiopathic hemolytic anemia", "label_hira": "びしょうけっかんしょうがいせいようけつせいひんけつ", "notification_number": "47", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200651", "id": "NANDO:2200651", "label_ja": "先天性無巨核球性血小板減少症", "label_en": "Congenital amegakaryocytic thrombocytopenia", "label_hira": "せんてんせいむきょかくきゅうせいけっしょうばんげんしょうしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200683", "id": "NANDO:2200683", "label_ja": "36から46までに掲げるもののほか、先天性血液凝固因子異常", "label_en": "Other inherited bleeding disorder", "label_hira": "36から46までにかかげるもののほか、せんてんせいけつえきぎょうこいんしいじょう", "notification_number": "40", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200691", "id": "NANDO:2200691", "label_ja": "先天性アンチトロンビン欠乏症", "label_en": "Antithrombin deficiency", "label_hira": "せんてんせいあんちとろんびんけつぼうしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200702", "id": "NANDO:2200702", "label_ja": "MHCクラスII欠損症", "label_en": "MHC class II deficiency", "label_hira": "えむえいちしーくらす2けっそんしょう", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200709", "id": "NANDO:2200709", "label_ja": "PMS2異常症", "label_en": "PMS2 deficiency", "label_hira": "ぴーえむえす2いじょうしょう", "notification_number": "53", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200713", "id": "NANDO:2200713", "label_ja": "高IgE症候群", "label_en": "Hyper-IgE syndrome", "label_hira": "こうあいじーいーしょうこうぐん", "notification_number": "49", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200727", "id": "NANDO:2200727", "label_ja": "31から33までに掲げるもののほか、免疫調節障害", "label_en": "Other diseases of immune dysregulation", "label_hira": "31から33までにかかげるもののほか、めんえきちょうせつしょうがい", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200745", "id": "NANDO:2200745", "label_ja": "重症先天性好中球減少症", "label_en": "Severe congenital neutropenia", "label_hira": "じゅうしょうせんてんせいこうちゅうきゅうげんしょうしょう", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200747", "id": "NANDO:2200747", "label_ja": "35及び36に掲げるもののほか、慢性の経過をたどる好中球減少症", "label_en": "Other congenital defects of neutrophil function", "label_hira": "35および36にかかげるもののほか、まんせいのけいかをたどるこうちゅうきゅうげんしょうしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200751", "id": "NANDO:2200751", "label_ja": "Barth症候群", "label_en": "Barth syndrome", "label_hira": "ばーすしょうこうぐん", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200775", "id": "NANDO:2200775", "label_ja": "孤立性先天性無脾症", "label_en": "Isolated congenital asplenia", "label_hira": "こりつせいせんてんせいむひしょう", "notification_number": "25", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200781", "id": "NANDO:2200781", "label_ja": "C2 欠損症", "label_en": "C2 deficiency", "label_hira": "しー2けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200793", "id": "NANDO:2200793", "label_ja": "MASP2 欠損症", "label_en": "MASP2 deficiency", "label_hira": "えむえーえすぴー2けっそんしょう", "notification_number": "27", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200795", "id": "NANDO:2200795", "label_ja": "遺伝性血管性浮腫", "label_en": "Hereditary angioedema", "label_hira": "いでんせいけっかんせいふしゅ", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200801", "id": "NANDO:2200801", "label_ja": "CR2欠損症", "label_en": "CD21 deficiency", "label_hira": "しーあーる2けっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200802", "id": "NANDO:2200802", "label_ja": "CR3欠損症", "label_en": "CR3 deficiency", "label_hira": "しーあーる3けっそんしょう", "notification_number": "28", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200825", "id": "NANDO:2200825", "label_ja": "レット症候群", "label_en": "Rett syndrome", "label_hira": "れっとしょうこうぐん", "notification_number": "105", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200843", "id": "NANDO:2200843", "label_ja": "非症候性頭蓋骨縫合早期癒合症", "label_en": "Non-syndromic craniosynostosis", "label_hira": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200858", "id": "NANDO:2200858", "label_ja": "肢帯型筋ジストロフィー", "label_en": "Limb-girdle muscular dystrophy", "label_hira": "したいがたきんじすとろふぃー", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200862", "id": "NANDO:2200862", "label_ja": "ウルリヒ型先天性筋ジストロフィー", "label_en": "Ullrich congenital muscular dystrophy", "label_hira": "うるりひがたせんてんせいきんじすとろふぃー", "notification_number": "12", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200868", "id": "NANDO:2200868", "label_ja": "先天性筋線維不均等症", "label_en": "Congenital fiber-type disproportion myopathy", "label_hira": "せんてんせいきんせんいふきんとうしょう", "notification_number": "50", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200874", "id": "NANDO:2200874", "label_ja": "先天性全タイプ1線維ミオパチー", "label_en": "Congenital neuromuscular disease with uniform type 1 fiber", "label_hira": "せんてんせいぜんたいぷ1せんいみおぱちー", "notification_number": "56", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200896", "id": "NANDO:2200896", "label_ja": "RNASEH2A欠損症", "label_en": "Aicardi-Goutieres syndrome 4a", "label_hira": "あーるえぬえーえすいーえいち2えーけっそんしょう", "notification_number": "44", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200905", "id": "NANDO:2200905", "label_ja": "慢性炎症性脱髄性多発神経炎", "label_en": "Chronic inflammatory demyelinating polyneuropathy", "label_hira": "まんせいえんしょうせいだつずいせいたはつしんけいえん", "notification_number": "102", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200917", "id": "NANDO:2200917", "label_ja": "ポイツ・ジェガース症候群", "label_en": "Peutz-Jeghers syndrome", "label_hira": "ぽいつ・じぇがーすしょうこうぐん", "notification_number": "42", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200921", "id": "NANDO:2200921", "label_ja": "クローン病", "label_en": "Crohn's disease", "label_hira": "くろーんびょう", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200941", "id": "NANDO:2200941", "label_ja": "クリグラー・ナジャー症候群", "label_en": "Crigler-Najjar syndrome", "label_hira": "くりぐらー・なじゃーしょうこうぐん", "notification_number": "18", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200953", "id": "NANDO:2200953", "label_ja": "ソトス症候群", "label_en": "Sotos syndrome", "label_hira": "そとすしょうこうぐん", "notification_number": "26", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200961", "id": "NANDO:2200961", "label_ja": "5p-症候群", "label_en": "5p- syndrome", "label_hira": "5ぴーまいなすしょうこうぐん", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200966", "id": "NANDO:2200966", "label_ja": "9から14までに掲げるもののほか、常染色体異常", "label_en": "Other chromosomal abnormalities", "label_hira": "9から14までにかかげるもののほか、じょうせんしょくたいいじょう", "notification_number": "7", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200971", "id": "NANDO:2200971", "label_ja": "コステロ症候群", "label_en": "Costello syndrome", "label_hira": "こすてろしょうこうぐん", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200994", "id": "NANDO:2200994", "label_ja": "シェーグレン・ラルソン症候群", "label_en": "Sjögren-Larsson syndrome", "label_hira": "しぇーぐれん・らるそんしょうこうぐん", "notification_number": "6", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200998", "id": "NANDO:2200998", "label_ja": "CHILD症候群", "label_en": "CHILD syndrome", "label_hira": "ちゃいるどしょうこうぐん", "notification_number": "10", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201003", "id": "NANDO:2201003", "label_ja": "レックリングハウゼン病", "label_en": "von Recklinghausen's disease", "label_hira": "れっくりんぐはうぜんびょう", "notification_number": "17", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201024", "id": "NANDO:2201024", "label_ja": "骨斑紋症", "label_en": "Osteopoikilosis", "label_hira": "こつはんもんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201029", "id": "NANDO:2201029", "label_ja": "巨大動静脈奇形", "label_en": "Huge arteriovenous malformation", "label_hira": "きょだいどうじょうみゃくきけい", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201043", "id": "NANDO:2201043", "label_ja": "拡張相肥大型心筋症", "label_en": "Dilated phase of hypertrophic cardiomyopathy", "label_hira": "かくちょうそうひだいがたしんきんしょう", "notification_number": "88", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201044", "id": "NANDO:2201044", "label_ja": "川崎病性冠動脈瘤（定型例川崎病）", "label_en": "Coronary aneurysms complicated with Kawasaki disease (typical Kawasaki disease)", "label_hira": "かわさきびょうせいかんどうみゃくりゅう（ていけいれいかわさきびょう）", "notification_number": "5", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201046", "id": "NANDO:2201046", "label_ja": "特発性肺動脈性肺高血圧症", "label_en": "Idiopathic pulmonary arterial hypertension", "label_hira": "とくはつせいはいどうみゃくせいはいこうけつあつしょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201048", "id": "NANDO:2201048", "label_ja": "二次性肺動脈性肺高血圧症", "label_en": "Secondary pulmonary arterial hypertension", "label_hira": "にじせいはいどうみゃくせいはいこうけつあつしょう", "notification_number": "83", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201056", "id": "NANDO:2201056", "label_ja": "若年性特発性関節炎（少関節炎）", "label_en": "Oligoarticular juvenile idiopathic arthritis", "label_hira": "じゃくねんせいとくはつせいかんせつえん（しょうかんせつえん）", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201066", "id": "NANDO:2201066", "label_ja": "慢性乳児神経皮膚関節症候群", "label_en": "Chronic infantile neurological cutaneous articular syndrome", "label_hira": "まんせいにゅうじしんけいひふかんせつしょうこうぐん", "notification_number": "16", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201084", "id": "NANDO:2201084", "label_ja": "発症前型N-アセチルグルタミン酸合成酵素欠損症", "label_en": "Presymptomatic N-acetylglutamate synthetase deficiency", "label_hira": "はっしょうまえがたえぬあせちるぐるたみんさんごうせいこうそけっそんしょう", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201090", "id": "NANDO:2201090", "label_ja": "発症前型オルニチントランスカルバミラーゼ欠損症", "label_en": "Presymptomatic ornitine transcarbamylase deficiency", "label_hira": "はっしょうまえがたおるにちんとらんすかるばみらーぜけっそんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201095", "id": "NANDO:2201095", "label_ja": "遅発型アルギニノコハク酸合成酵素欠損症", "label_en": "Late-onset argininosuccinate synthetase deficiency", "label_hira": "ちはつがたあるぎにのこはくさんごうせいこうそけっそんしょう", "notification_number": "1", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201107", "id": "NANDO:2201107", "label_ja": "コバラミン代謝異常 cblC", "label_en": "Methylmalonic aciduria and homocystinuria, cblC type", "label_hira": "こばらみんたいしゃいじょう しーびーえるしー", "notification_number": "109", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201113", "id": "NANDO:2201113", "label_ja": "急性発症型プロピオン酸血症", "label_en": "Acute-onset propionic acidemia", "label_hira": "きゅうせいはっしょうがたぷろぴおんさんけっしょう", "notification_number": "106", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201126", "id": "NANDO:2201126", "label_ja": "慢性進行型グルタル酸血症1型", "label_en": "Glutaric acidemia type 1, chronic progressive form", "label_hira": "まんせいしんこうがたぐるたるさんけっしょう1がた", "notification_number": "97", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201129", "id": "NANDO:2201129", "label_ja": "乳児期発症型カルニチンパルミトイルトランスフェラーゼI欠損症", "label_en": "Infantile-onset carnitine palmitoyl transferase I deficiency", "label_hira": "にゅうじきはっしょうがたかるにちんぱるみといるとらんすふぇらーぜ1けっそんしょう", "notification_number": "41", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201163", "id": "NANDO:2201163", "label_ja": "成人型糖原病IV型", "label_en": "Glycogen storage disease type IV, adult form", "label_hira": "せいじんがたとうげんびょう4がた", "notification_number": "65", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201166", "id": "NANDO:2201166", "label_ja": "糖原病IXc型", "label_en": "Glycogen storage disease type IXc", "label_hira": "とうげんびょう9しーがた", "notification_number": "69", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201169", "id": "NANDO:2201169", "label_ja": "Scheie病", "label_en": "Scheie disease", "label_hira": "しゃいえびょう", "notification_number": "129", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201171", "id": "NANDO:2201171", "label_ja": "軽症型ムコ多糖症II型", "label_en": "Mucopolysaccharidosis type II, attenuated form", "label_hira": "けいしょうがたむこたとうしょう2がた", "notification_number": "130", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201179", "id": "NANDO:2201179", "label_ja": "B型ムコ多糖症IV型", "label_en": "Mucopolysaccharidosis type IV B", "label_hira": "びーがたむこたとうしょう4がた", "notification_number": "132", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201189", "id": "NANDO:2201189", "label_ja": "若年成人型α - マンノシドーシス", "label_en": "Alpha-mannosidosis, adult form", "label_hira": "じゃくねんせいじんがたあるふぁまんのしどーしす", "notification_number": "128", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201208", "id": "NANDO:2201208", "label_ja": "乳児型ニーマン・ピック病C型", "label_en": "Infantile-onset Niemann-Pick disease type C", "label_hira": "にゅうじがたにーまん・ぴっくびょうしーがた", "notification_number": "122", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201223", "id": "NANDO:2201223", "label_ja": "新生児型ファーバー病", "label_en": "Type 4 Farber disease", "label_hira": "しんせいじがたふぁーばーびょう", "notification_number": "123", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201240", "id": "NANDO:2201240", "label_ja": "先天型神経セロイドリポフスチン症", "label_en": "Congenital neuronal ceroid lipofuscinosis", "label_hira": "せんてんがたしんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201245", "id": "NANDO:2201245", "label_ja": "非定型神経セロイドリポフスチン症", "label_en": "Atypical neuronal ceroid lipofuscinosis", "label_hira": "ひていけいしんけいせろいどりぽふすちんしょう", "notification_number": "121", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201247", "id": "NANDO:2201247", "label_ja": "思春期大脳型副腎白質ジストロフィー", "label_en": "Adolescent cerebral adrenoleukodystrophy", "label_hira": "ししゅんきだいのうがたふくじんはくしつじすとろふぃー", "notification_number": "81", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201256", "id": "NANDO:2201256", "label_ja": "古典型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, classical type", "label_hira": "こてんがたえーらす・だんろすしょうこうぐん", "notification_number": "31", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201267", "id": "NANDO:2201267", "label_ja": "晩発性皮膚ポルフィリン症", "label_en": "Porphyria cutanea tarda", "label_hira": "ばんはつせいひふぽるふぃりんしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201289", "id": "NANDO:2201289", "label_ja": "ペリツェウス・メルツバッハ様病１", "label_en": "Pelizaeus-Merzbacher like disease", "label_hira": "ぺりつぇうす・めるつばっはようびょう1", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201297", "id": "NANDO:2201297", "label_ja": "失調、歯牙低形成を伴う髄鞘形成不全症", "label_en": "Ataxia, delayed dentition, and hypomyelination syndrome", "label_hira": "しっちょう、しがていけいせいをともなうずいしょうけいせいふぜんしょう", "notification_number": "4", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201302", "id": "NANDO:2201302", "label_ja": "非症候性頭蓋骨縫合早期癒合症（矢状縫合）", "label_en": "Non-syndromic sagittal craniosynostosis", "label_hira": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（しじょうほうごう）", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201305", "id": "NANDO:2201305", "label_ja": "非症候性頭蓋骨縫合早期癒合症（前頭縫合）", "label_en": "Non-syndromic metopic craniosynostosis", "label_hira": "ひしょうこうせいずがいこつほうごうそうきゆごうしょう（ぜんとうほうごう）", "notification_number": "35", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201310", "id": "NANDO:2201310", "label_ja": "アペール症候群（前頭縫合）", "label_en": "Apert syndrome (metopic synostosis)", "label_hira": "あぺーるしょうこうぐん（ぜんとうほうごう）", "notification_number": "33", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201324", "id": "NANDO:2201324", "label_ja": "純粋眼筋型重症筋無力症", "label_en": "Purely ocular myasthenia gravis", "label_hira": "じゅんすいがんきんがたじゅうしょうきんむりょくしょう", "notification_number": "22", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201336", "id": "NANDO:2201336", "label_ja": "ファイファー症候群（矢状縫合）", "label_en": "Pfeiffer syndrome (sagittal synostosis)", "label_hira": "ふぁいふぁーしょうこうぐん（しじょうほうごう）", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201338", "id": "NANDO:2201338", "label_ja": "ファイファー症候群（人字縫合）", "label_en": "Pfeiffer syndrome (lambdoid synostosis)", "label_hira": "ふぁいふぁーしょうこうぐん（じんじほうごう）", "notification_number": "32", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201348", "id": "NANDO:2201348", "label_ja": "先天性脊椎骨端異形成症", "label_en": "Spondyloepiphyseal dysplasia congenita", "label_hira": "せんてんせいせきついこったんいけいせいしょう", "notification_number": "15", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2201361", "id": "NANDO:2201361", "label_ja": "Greenberg骨異形成症", "label_en": "Greenberg dysplasia", "label_hira": "ぐりーんばーぐこついけいせいしょう", "notification_number": "11", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200002", "id": "NANDO:1200002", "label_ja": "筋萎縮性側索硬化症", "label_en": "Amyotrophic lateral sclerosis", "label_hira": "きんいしゅくせいそくさくこうかしょう", "notification_number": "2", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200003", "id": "NANDO:1200003", "label_ja": "脊髄性筋萎縮症", "label_en": "Spinal muscular atrophy", "label_hira": "せきずいせいきんいしゅくしょう", "notification_number": "3", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200012", "id": "NANDO:1200012", "label_ja": "ハンチントン病", "label_en": "Huntington's disease", "label_hira": "はんちんとんびょう", "notification_number": "8", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200044", "id": "NANDO:1200044", "label_ja": "脊髄小脳失調症31型", "label_en": "Spinocerebellar ataxia type 31", "label_hira": "せきずいしょうのうしっちょうしょう31がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200047", "id": "NANDO:1200047", "label_ja": "脊髄小脳失調症7型", "label_en": "Spinocerebellar ataxia type 7", "label_hira": "せきずいしょうのうしっちょうしょう7がた", "notification_number": "18", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200058", "id": "NANDO:1200058", "label_ja": "ゴーシェ病2型", "label_en": "Gaucher disease type 2", "label_hira": "ごーしぇびょう2がた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200062", "id": "NANDO:1200062", "label_ja": "ニーマン・ピック病B型", "label_en": "Niemann-Pick disease type B", "label_hira": "にーまん・ぴっくびょうびーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200065", "id": "NANDO:1200065", "label_ja": "成人型ニーマン・ピック病C型", "label_en": "Adult-onset Niemann-Pick disease type C", "label_hira": "せいじんがたにーまん・ぴっくびょうしーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200069", "id": "NANDO:1200069", "label_ja": "成人型GM1-ガングリオシドーシス", "label_en": "Adult GM1 gangliosidosis", "label_hira": "せいじんがたじーえむ1がんぐりおしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200084", "id": "NANDO:1200084", "label_ja": "新生児型マルチプルスルファターゼ欠損症", "label_en": "Neonatal multiple sulfatase deficiency", "label_hira": "しんせいじがたまるちぷるするふぁたーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200086", "id": "NANDO:1200086", "label_ja": "ファーバー病", "label_en": "Farber disease", "label_hira": "ふぁーばーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200106", "id": "NANDO:1200106", "label_ja": "モルキオ症候群A型", "label_en": "Morquio syndrome type A", "label_hira": "もるきおしょうこうぐんえーがた", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200127", "id": "NANDO:1200127", "label_ja": "乳児型α - マンノシドーシス", "label_en": "Alpha-mannosidosis, infantile form", "label_hira": "にゅうじがたあるふぁまんのしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200129", "id": "NANDO:1200129", "label_ja": "β-マンノシドーシス", "label_en": "Beta-mannosidosis", "label_hira": "べーたまんのしどーしす", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200144", "id": "NANDO:1200144", "label_ja": "コレステロールエステル蓄積症", "label_en": "Cholesterol ester storage disease", "label_hira": "これすてろーるえすてるちくせきしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200158", "id": "NANDO:1200158", "label_ja": "古典型ファブリー病", "label_en": "Classical Fabry disease", "label_hira": "こてんがたふぁぶりーびょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200177", "id": "NANDO:1200177", "label_ja": "赤色ぼろ線維・ミオクローヌスてんかん症候群", "label_en": "Myoclonus epilepsy associated with ragged-red fibers", "label_hira": "せきしょくぼろせんい・みおくろーぬすてんかんしょうこうぐん", "notification_number": "21", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200195", "id": "NANDO:1200195", "label_ja": "亜急性硬化性全脳炎", "label_en": "Subacute sclerosing panencephalitis", "label_hira": "あきゅうせいこうかせいぜんのうえん", "notification_number": "24", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200207", "id": "NANDO:1200207", "label_ja": "特発性基底核石灰化症", "label_en": "Idiopathic basal ganglia calcification", "label_hira": "とくはつせいきていかくせっかいかしょう", "notification_number": "27", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200214", "id": "NANDO:1200214", "label_ja": "遺伝性トランスサイレチンアミロイドーシス", "label_en": "Hereditary Transthyretin Amyloidosis", "label_hira": "いでんせいとらんすさいれちんあみろいどーしす", "notification_number": "28", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200217", "id": "NANDO:1200217", "label_ja": "三好型ミオパチー", "label_en": "Miyoshi myopathy", "label_hira": "みよしがたみおぱちー", "notification_number": "30", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200223", "id": "NANDO:1200223", "label_ja": "過剰自己貪食を伴うＸ連鎖性ミオパチー", "label_en": "X-linked Myopathy with excessive autophagy", "label_hira": "かじょうじこどんしょくをともなうえっくすれんさせいみおぱちー", "notification_number": "32", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200227", "id": "NANDO:1200227", "label_ja": "神経線維腫症II型", "label_en": "Neurofibromatosis type 2", "label_hira": "しんけいせんいしゅしょう2がた", "notification_number": "34", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200233", "id": "NANDO:1200233", "label_ja": "紅斑性天疱瘡", "label_en": "Pemphigus erythematosus", "label_hira": "こうはんせいてんぽうそう", "notification_number": "35", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200250", "id": "NANDO:1200250", "label_ja": "中毒性表皮壊死症（不全型）", "label_en": "Toxic epidermal necrolysis (abortive form)", "label_hira": "ちゅうどくせいひょうひえししょう（ふぜんがた）", "notification_number": "39", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200262", "id": "NANDO:1200262", "label_ja": "顕微鏡的多発血管炎", "label_en": "Microscopic polyangiitis", "label_hira": "けんびきょうてきたはつけっかんえん", "notification_number": "43", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200264", "id": "NANDO:1200264", "label_ja": "好酸球性多発血管炎性肉芽腫症", "label_en": "Eosinophilic granulomatosis with polyangiitis", "label_hira": "こうさんきゅうせいたはつけっかんえんせいにくげしゅしょう", "notification_number": "45", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200265", "id": "NANDO:1200265", "label_ja": "悪性関節リウマチ", "label_en": "Rheumatoid vasculitis", "label_hira": "あくせいかんせつりうまち", "notification_number": "46", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200274", "id": "NANDO:1200274", "label_ja": "皮膚筋炎", "label_en": "Dermatomyositis", "label_hira": "ひふきんえん", "notification_number": "50", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200287", "id": "NANDO:1200287", "label_ja": "非閉塞性肥大型心筋症", "label_en": "Hypertrophic non-obstructive cardiomyopathy", "label_hira": "ひへいそくせいひだいがたしんきんしょう", "notification_number": "58", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200298", "id": "NANDO:1200298", "label_ja": "特殊型再生不良性貧血", "label_en": "Atypical aplastic anemia", "label_hira": "とくしゅがたさいせいふりょうせいひんけつ", "notification_number": "60", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200313", "id": "NANDO:1200313", "label_ja": "骨髄不全型発作性夜間ヘモグロビン尿症", "label_en": "Paroxysmal nocturnal hemoglobinuria in the setting of another specified bone marrow disorder", "label_hira": "こつずいふぜんがたほっさせいやかんへもぐろびんにょうしょう", "notification_number": "62", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200314", "id": "NANDO:1200314", "label_ja": "混合型発作性夜間ヘモグロビン尿症", "label_en": "Mixed type paroxysmal nocturnal hemoglobinuria", "label_hira": "こんごうがたほっさせいやかんへもぐろびんにょうしょう", "notification_number": "62", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1100002", "id": "NANDO:1100002", "label_ja": "代謝系疾患", "label_en": "Metabolic disease", "label_hira": "たいしゃけいしっかん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200327", "id": "NANDO:1200327", "label_ja": "ZAP-70欠損症", "label_en": "Zap-70 deficiency", "label_hira": "ざっぷ70けっそんしょう", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200334", "id": "NANDO:1200334", "label_ja": "ICF症候群", "label_en": "ICF syndrome", "label_hira": "あいしーえふしょうこうぐん", "notification_number": "65", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200436", "id": "NANDO:1200436", "label_ja": "網膜色素変性症（二遺伝子異常型）", "label_en": "Digenic retinitis pigmentosa", "label_hira": "もうまくしきそへんせいしょう（にいでんしいじょうがた）", "notification_number": "90", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200441", "id": "NANDO:1200441", "label_ja": "自己免疫性肝炎", "label_en": "Autoimmune hepatitis", "label_hira": "じこめんえきせいかんえん", "notification_number": "95", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200442", "id": "NANDO:1200442", "label_ja": "自己免疫性肝炎（典型例）", "label_en": "Typical autoimmune hepatitis", "label_hira": "じこめんえきせいかんえん（てんけいれい）", "notification_number": "95", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200449", "id": "NANDO:1200449", "label_ja": "潰瘍性大腸炎", "label_en": "Ulcerative colitis", "label_hira": "かいようせいだいちょうえん", "notification_number": "97", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200460", "id": "NANDO:1200460", "label_ja": "腸管神経節細胞僅少症", "label_en": "Congenital isolated hypoganglionosis", "label_hira": "ちょうかんしんけいせつさいぼうきんしょうしょう", "notification_number": "101", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200461", "id": "NANDO:1200461", "label_ja": "ルビンシュタイン・テイビ症候群", "label_en": "Rubinstein-Taybi syndrome", "label_hira": "るびんしゅたいん・ていびしょうこうぐん", "notification_number": "102", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200486", "id": "NANDO:1200486", "label_ja": "筋ジストロフィー", "label_en": "Muscular dystrophy", "label_hira": "きんじすとろふぃー", "notification_number": "113", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200493", "id": "NANDO:1200493", "label_ja": "眼咽頭筋型筋ジストロフィー", "label_en": "Oculopharyngeal muscular dystrophy", "label_hira": "がんいんとうきんがたきんじすとろふぃー", "notification_number": "113", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200510", "id": "NANDO:1200510", "label_ja": "アイザックス症候群", "label_en": "Isaacs syndrome", "label_hira": "あいざっくすしょうこうぐん", "notification_number": "119", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200541", "id": "NANDO:1200541", "label_ja": "FAHN", "label_en": "Fatty acid hydroxylase-associated neurodegeneration", "label_hira": "えふえーえいちえぬ", "notification_number": "121", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200547", "id": "NANDO:1200547", "label_ja": "ペリー病", "label_en": "Perry disease", "label_hira": "ぺりーびょう", "notification_number": "126", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200555", "id": "NANDO:1200555", "label_ja": "大脳優位型アレキサンダー病", "label_en": "Alexander disease type I", "label_hira": "だいのうゆういがたあれきさんだーびょう", "notification_number": "131", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200559", "id": "NANDO:1200559", "label_ja": "メビウス症候群", "label_en": "Moebius syndrome", "label_hira": "めびうすしょうこうぐん", "notification_number": "133", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200560", "id": "NANDO:1200560", "label_ja": "中隔視神経形成異常症／ドモルシア症候群", "label_en": "Septo-optic dysplasia / De Morsier syndrome", "label_hira": "ちゅうかくししんけいけいせいいじょうしょう/どもるしあしょうこうぐん", "notification_number": "134", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200585", "id": "NANDO:1200585", "label_ja": "失調、歯牙低形成を伴う髄鞘形成不全症", "label_en": "Ataxia, delayed dentition, and hypomyelination syndrome", "label_hira": "しっちょう、しがていけいせいをともなうずいしょうけいせいふぜんしょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200586", "id": "NANDO:1200586", "label_ja": "脱髄型末梢神経障害、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病", "label_en": "Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease", "label_hira": "だつずいがたまっしょうしんけいしょうがい、ちゅうすうせいずいしょうけいせいふぜんしょう、わーでんばーぐしょうこうぐん、ひるしゅすぷるんぐびょう", "notification_number": "139", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200588", "id": "NANDO:1200588", "label_ja": "海馬硬化を伴う内側側頭葉てんかん", "label_en": "Mesial temporal lobe epilepsy with bilateral hippocampal sclerosis", "label_hira": "かいばこうかをともなうないそくそくとうようてんかん", "notification_number": "141", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200597", "id": "NANDO:1200597", "label_ja": "環状20番染色体症候群", "label_en": "Ring chromosome 20 syndrome", "label_hira": "かんじょう20ばんせんしょくたいしょうこうぐん", "notification_number": "150", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200638", "id": "NANDO:1200638", "label_ja": "ヘルマンスキー・パドラック症候群", "label_en": "Hermansky-Pudlak syndrome", "label_hira": "へるまんすきー・ぱどらっくしょうこうぐん", "notification_number": "164", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200646", "id": "NANDO:1200646", "label_ja": "古典型エーラス・ダンロス症候群", "label_en": "Ehlers-Danlos syndrome, classical type", "label_hira": "こてんがたえーらす・だんろすしょうこうぐん", "notification_number": "168", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200667", "id": "NANDO:1200667", "label_ja": "アペール症候群", "label_en": "Apert syndrome", "label_hira": "あぺーるしょうこうぐん", "notification_number": "182", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200680", "id": "NANDO:1200680", "label_ja": "ヌーナン症候群", "label_en": "Noonan syndrome", "label_hira": "ぬーなんしょうこうぐん", "notification_number": "195", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200698", "id": "NANDO:1200698", "label_ja": "修正大血管転位症", "label_en": "Corrected transposition of great arteries", "label_hira": "しゅうせいだいけっかんてんいしょう", "notification_number": "208", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200700", "id": "NANDO:1200700", "label_ja": "完全大血管転位症I型", "label_en": "Complete transposition of the great arteries (Group1)", "label_hira": "かんぜんだいけっかんてんいしょう1がた", "notification_number": "209", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200713", "id": "NANDO:1200713", "label_ja": "ギャロウェイ・モワト症候群", "label_en": "Galloway-Mowat syndrome", "label_hira": "ぎゃろうぇい・もわとしょうこうぐん", "notification_number": "219", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200720", "id": "NANDO:1200720", "label_ja": "微小変化型ネフローゼ症候群", "label_en": "Minimal change nephrotic syndrome", "label_hira": "びしょうへんかがたねふろーぜしょうこうぐん", "notification_number": "222", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200740", "id": "NANDO:1200740", "label_ja": "一次性膜性増殖性糸球体腎炎III型", "label_en": "Primary membranoproliferative glomerulonephritis type III", "label_hira": "いちじせいまくせいぞうしょくせいしきゅうたいじんえん3かた", "notification_number": "223", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200759", "id": "NANDO:1200759", "label_ja": "ペルオキシソーム形成異常症", "label_en": "Peroxisome biogenesis disorders", "label_hira": "ぺるおきしそーむけいせいいじょうしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200764", "id": "NANDO:1200764", "label_ja": "ペルオキシソームβ酸化系酵素欠損症", "label_en": "Peroxisomal beta-oxidation enzyme deficiency", "label_hira": "ぺるおきしそーむべーたさんかけいこうそけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200767", "id": "NANDO:1200767", "label_ja": "ステロールキャリアプロテインX欠損症", "label_en": "Sterol carrier protein 2 deficiency", "label_hira": "すてろーるきゃりあぷろていんえっくすけっそんしょう", "notification_number": "234", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200780", "id": "NANDO:1200780", "label_ja": "ビタミンD抵抗性骨軟化症", "label_en": "Vitamin D-resistant osteomalacia", "label_hira": "びたみんでぃーていこうせいこつなんかしょう", "notification_number": "238", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200781", "id": "NANDO:1200781", "label_ja": "ビタミンD依存性くる病/骨軟化症", "label_en": "Vitamin D-dependent rickets / Osteomalacia", "label_hira": "びたみんでぃーいぞんせいくるびょう/こつなんかしょう", "notification_number": "239", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200808", "id": "NANDO:1200808", "label_ja": "NAGS欠損症", "label_en": "NAGS deficiency", "label_hira": "えぬえーじーえす欠損症", "notification_number": "251", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200809", "id": "NANDO:1200809", "label_ja": "リジン尿性蛋白不耐症", "label_en": "Lysinuric protein intolerance", "label_hira": "りじんにょうせいたんぱくふたいしょう", "notification_number": "252", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200811", "id": "NANDO:1200811", "label_ja": "ポルフィリン症", "label_en": "Porphyria", "label_hira": "ぽるふぃりんしょう", "notification_number": "254", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200820", "id": "NANDO:1200820", "label_ja": "複合カルボキシラーゼ欠損症", "label_en": "Multiple carboxylase deficiency", "label_hira": "ふくごうかるぼきしらーぜけっそんしょう", "notification_number": "255", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200822", "id": "NANDO:1200822", "label_ja": "ビオチニダーゼ欠損症", "label_en": "Biotinidase deficiency", "label_hira": "びおちにだーぜけっそんしょう", "notification_number": "255", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200823", "id": "NANDO:1200823", "label_ja": "筋型糖原病", "label_en": "Muscle glycogen storage disease", "label_hira": "きんがたとうげんびょう", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200825", "id": "NANDO:1200825", "label_ja": "筋型糖原病II型", "label_en": "Glycogen storage diseases type II", "label_hira": "きんがたとうげんびょう2がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200830", "id": "NANDO:1200830", "label_ja": "筋型糖原病IXd型", "label_en": "Glycogen storage diseases type IXd", "label_hira": "きんがたとうげんびょう9でぃーがた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200832", "id": "NANDO:1200832", "label_ja": "筋型糖原病X型", "label_en": "Glycogen storage diseases type X", "label_hira": "きんがたとうげんびょう10がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200833", "id": "NANDO:1200833", "label_ja": "筋型糖原病XI型", "label_en": "Glycogen storage diseases type XI", "label_hira": "きんがたとうげんびょう11がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200836", "id": "NANDO:1200836", "label_ja": "筋型糖原病XIV型", "label_en": "Glycogen storage diseases type XIV", "label_hira": "きんがたとうげんびょう14がた", "notification_number": "256", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200845", "id": "NANDO:1200845", "label_ja": "肝型糖原病IIId型", "label_en": "Hepatic GSD type IIId", "label_hira": "かんがたとうげんびょう3でぃーがた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200852", "id": "NANDO:1200852", "label_ja": "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", "label_en": "Lecithin cholesterol acyltransferase deficiency", "label_hira": "れしちんこれすてろーるあしるとらんすふぇらーぜけっそんしょう", "notification_number": "259", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200874", "id": "NANDO:1200874", "label_ja": "タナトフォリック骨異形成症", "label_en": "Thanatophoric dysplasia", "label_hira": "たなとふぉりっくこついけいせいしょう", "notification_number": "275", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200884", "id": "NANDO:1200884", "label_ja": "クリッペル・トレノネー・ウェーバー症候群", "label_en": "Klippel-Trenaunay-Weber syndrome", "label_hira": "くりっぺる・とれのねー・うぇーばーしょうこうぐん", "notification_number": "281", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200902", "id": "NANDO:1200902", "label_ja": "非特異性多発性小腸潰瘍症", "label_en": "Chronic nonspecific multiple ulcers of the small intestine", "label_hira": "ひとくいせいたはつせいしょうちょうかいようしょう", "notification_number": "290", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200915", "id": "NANDO:1200915", "label_ja": "Icyst型胆道閉鎖症", "label_en": "Type I cystic biliary atresia", "label_hira": "1しすとがたたんどうへいさしょう", "notification_number": "296", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200918", "id": "NANDO:1200918", "label_ja": "アラジール症候群", "label_en": "Alagille syndrome", "label_hira": "あらじーるしょうこうぐん", "notification_number": "297", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200939", "id": "NANDO:1200939", "label_ja": "中心性輪紋状脈絡膜ジストロフィー", "label_en": "Central areolar choroidal dystrophy", "label_hira": "ちゅうしんせいりんもんじょうみゃくらくまくじすとろふぃー", "notification_number": "301", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200950", "id": "NANDO:1200950", "label_ja": "皮質下嚢胞をもつ大頭型白質脳症", "label_en": "Megaloencephalic leukoencephalopathy with subcortical cysts", "label_hira": "ひしつかのうほうをもつだいとうがたはくしつのうしょう", "notification_number": "308", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200953", "id": "NANDO:1200953", "label_ja": "進行性ミオクローヌスてんかん", "label_en": "Progressive myoclonus epilepsy", "label_hira": "しんこうせいみおくろーぬすてんかん", "notification_number": "309", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200962", "id": "NANDO:1200962", "label_ja": "先天性三尖弁狭窄症", "label_en": "Congenital tricuspid stenosis", "label_hira": "せんてんせいさんせんべんきょうさくしょう", "notification_number": "311", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200703", "id": "NANDO:1200703", "label_ja": "obsolete 完全大血管転位症IV型", "label_en": "obsolete Complete transposition of the great arteries (Group4)", "label_hira": "かんぜんだいけっかんてんいしょう4がた", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200729", "id": "NANDO:1200729", "label_ja": "obsolete 慢性・巣状型膜性増殖性糸球体腎炎", "label_en": "obsolete Chronic focal membranoproliferative glomerulonephritis type I", "label_hira": "まんせい・そうじょうがたまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200879", "id": "NANDO:1200879", "label_ja": "obsolete リンパ管腫症", "label_en": "obsolete Lymphangiomatosis", "label_hira": "obsolete りんぱかんしゅしょう", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200976", "id": "NANDO:1200976", "label_ja": "乳幼児期発症型三頭酵素欠損症", "label_en": "Trifunctional protein deficiency, intermediate type", "label_hira": "にゅうようじきはっしょうがたさんとうこうそけっそんしょう", "notification_number": "317", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200990", "id": "NANDO:1200990", "label_ja": "メチルグルタコン酸尿症I型", "label_en": "3-methylglutaconic aciduria type I", "label_hira": "めちるぐるたこんさんにょうしょう1がた", "notification_number": "324", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1200994", "id": "NANDO:1200994", "label_ja": "NLRC4異常症", "label_en": "NLRC4 mutation", "label_hira": "えぬえるあーるしー4いじょうしょう", "notification_number": "325", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201018", "id": "NANDO:1201018", "label_ja": "肝型糖原病I型", "label_en": "Hepatic glycogen storage disease type I", "label_hira": "かんがたとうげんびょう1がた", "notification_number": "257", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201021", "id": "NANDO:1201021", "label_ja": "膵囊胞線維症", "label_en": "Pancreatic cystic fibrosis", "label_hira": "ひのうほうせんいしょう", "notification_number": "299", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201065", "id": "NANDO:1201065", "label_ja": "接合部型表皮水疱症（ヘルリッツ型）", "label_en": "Herlitz junctional epidermolysis bullosa", "label_hira": "せつごうぶがたひょうひすいほうしょう（へるりっつがた）", "notification_number": "36", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201084", "id": "NANDO:1201084", "label_ja": "酸性スフィンゴミエリナーゼ欠損症", "label_en": "Acid sphingomyelinase deficiency", "label_hira": "さんせいすふぃんごみえりなーぜけっそんしょう", "notification_number": "19", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201101", "id": "NANDO:1201101", "label_ja": "脊椎骨幹端異形成症Kozlowski 型", "label_en": "Spondylometaphyseal dysplasia, Kozlowski type", "label_hira": "せきつい こっかんたん いけいせいしょうこずろふすきーがた", "notification_number": "341", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201104", "id": "NANDO:1201104", "label_ja": "特発性中枢性尿崩症", "label_en": "Idiopathic central diabetes insipidus", "label_hira": "とくはつせいちゅうすうせいにょうほうしょう", "notification_number": "72", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201031", "id": "NANDO:1201031", "label_ja": "obsolete 急性・びまん型膜性増殖性糸球体腎炎", "label_en": "obsolete Acute diffuse membranoproliferative glomerulonephritis type I", "label_hira": "きゅうせい・びまんがたまくせいぞうしょくせいしきゅうたいじんえん", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_1201067", "id": "NANDO:1201067", "label_ja": "obsolete 結節性リンパ球優位型ホジキンリンパ腫", "label_en": "obsolete Nodular lymphocyte predominance Hodgkin lymphoma", "label_hira": "けっそくせいりんぱきゅうゆういがたほじきんりんぱしゅ", "notification_number": "", "category": "shitei" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100008", "id": "NANDO:2100008", "label_ja": "慢性腎疾患", "label_en": "Chronic kidney disease", "label_hira": "まんせいじんしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100012", "id": "NANDO:2100012", "label_ja": "慢性腎盂腎炎", "label_en": "Chronic pyelonephritis", "label_hira": "まんせいじんうじんえん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100015", "id": "NANDO:2100015", "label_ja": "ネフロン癆", "label_en": "Nephronophthisis", "label_hira": "ねふろんろう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100040", "id": "NANDO:2100040", "label_ja": "先天性横隔膜ヘルニア", "label_en": "Congenital diaphragmatic hernia", "label_hira": "せんてんせいおうかくまくへるにあ", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100041", "id": "NANDO:2100041", "label_ja": "先天性囊胞性肺疾患", "label_en": "Congenital cystic lung disease", "label_hira": "せんてんせいのうほうせいはいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100044", "id": "NANDO:2100044", "label_ja": "モビッツ2型ブロック", "label_en": "Mobitz type II second degree atrioventricular block", "label_hira": "もびっつ2がたぶろっく", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100047", "id": "NANDO:2100047", "label_ja": "多源性心室期外収縮", "label_en": "Polymorphic ventricular premature beat", "label_hira": "たげんせいしんしつきがいしゅうしゅく", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100058", "id": "NANDO:2100058", "label_ja": "拘束型心筋症", "label_en": "Restrictive cardiomyopathy", "label_hira": "こうそくがたしんきんしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100103", "id": "NANDO:2100103", "label_ja": "肺動脈性肺高血圧症", "label_en": "Pulmonary arterial hypertension", "label_hira": "はいどうみゃくせいはいこうけつあつしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100108", "id": "NANDO:2100108", "label_ja": "フォンタン術後症候群", "label_en": "Post-Fontan syndrome", "label_hira": "ふぉんたんじゅつごしょうこうぐん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100112", "id": "NANDO:2100112", "label_ja": "先端巨大症", "label_en": "Acromegaly", "label_hira": "せんたんきょだいしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100124", "id": "NANDO:2100124", "label_ja": "副甲状腺機能低下症", "label_en": "Hypoparathyroidism", "label_hira": "ふくこうじょうせんきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100128", "id": "NANDO:2100128", "label_ja": "慢性副腎皮質機能低下症", "label_en": "Chronic adrenal insufficiency", "label_hira": "まんせいふくじんひしつきのうていかしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100135", "id": "NANDO:2100135", "label_ja": "思春期早発症", "label_en": "Precocious puberty", "label_hira": "ししゅんきそうはつしょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100156", "id": "NANDO:2100156", "label_ja": "自己炎症性疾患", "label_en": "Autoinflammatory disease", "label_hira": "じこえんしょうせいしっかん", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100165", "id": "NANDO:2100165", "label_ja": "ライソゾーム病", "label_en": "Lysosomal storage disease", "label_hira": "らいそぞーむびょう", "notification_number": "", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2100260", "id": "NANDO:2100260", "label_ja": "自己免疫性腸症（IPEX症候群を含む。）", "label_en": "Autoimmune enteropathy (including IPEX syndrome)", "label_hira": "じこめんえきせいちょうしょう（あいぺっくすしょうこうぐんをふくむ。）", "notification_number": "3", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200049", "id": "NANDO:2200049", "label_ja": "骨軟骨腫症", "label_en": "Osteochondromatosis", "label_hira": "こつなんこつしゅしょう", "notification_number": "14", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200061", "id": "NANDO:2200061", "label_ja": "滑膜肉腫", "label_en": "Synovial sarcoma", "label_hira": "かつまくにくしゅ", "notification_number": "8", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200077", "id": "NANDO:2200077", "label_ja": "悪性黒色腫", "label_en": "Malignant melanoma", "label_hira": "あくせいこくしょくしゅ", "notification_number": "2", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200093", "id": "NANDO:2200093", "label_ja": "脈絡叢乳頭腫", "label_en": "Choroid plexus papilloma", "label_hira": "みゃくらくそうにゅうとうしゅ", "notification_number": "67", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200124", "id": "NANDO:2200124", "label_ja": "紫斑病性腎炎", "label_en": "Henoch-Schonlein purpura nephritis", "label_hira": "しはんびょうせいじんえん", "notification_number": "37", "category": "syoman" }, { "disease": "http://nanbyodata.jp/ontology/NANDO_2200140", "id": "NANDO:2200140", "label_ja": "ネフロン癆", "label_en": "Nephronophthisis", "label_hira": "ねふろんろう", "notification_number": "29", "category": "syoman" } ]