[ { "batch": "1", "no": "1", "name_zh": "21-羟化酶缺乏症", "name_en": "21-Hydroxylase Deficiency", "orpha": [ { "orpha": "90794", "name_zh": "21-羟化酶所致经典性先天性肾上腺皮质增生症", "name_en": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "scope": "Disorder", "method": "curated", "note": "Orphanet 仅收经典型；目录条目还含非经典型 [high]", "mondo": "0008728", "omim": "201910", "icd10": "E25.0", "icd11": "5A71.01" } ] }, { "batch": "1", "no": "2", "name_zh": "白化病", "name_en": "Albinism", "orpha": [ { "orpha": "98706", "name_zh": "眼皮肤或眼白化病", "name_en": "Oculocutaneous or ocular albinism", "scope": "Group of disorders", "method": "curated", "note": "取最贴近的上位组「眼皮肤或眼白化病」 [high]", "mondo": "", "omim": "", "icd10": "E70.3", "icd11": "" } ] }, { "batch": "1", "no": "3", "name_zh": "Alport 综合征", "name_en": "Alport Syndrome", "orpha": [ { "orpha": "63", "name_zh": "Alport综合征", "name_en": "Alport syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018965", "omim": "104200;203780;301050", "icd10": "Q87.8", "icd11": "LD2H.Y" } ] }, { "batch": "1", "no": "4", "name_zh": "肌萎缩侧索硬化", "name_en": "Amyotrophic Lateral Sclerosis", "orpha": [ { "orpha": "803", "name_zh": "肌萎缩侧索硬化", "name_en": "Amyotrophic lateral sclerosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0004976", "omim": "105400", "icd10": "G12.2", "icd11": "8B60.0" } ] }, { "batch": "1", "no": "5", "name_zh": "Angelman 氏症候群（天使综合征）", "name_en": "Angelman Syndrome", "orpha": [ { "orpha": "72", "name_zh": "天使综合征", "name_en": "Angelman syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0007113", "omim": "105830", "icd10": "Q93.5", "icd11": "LD90.0" } ] }, { "batch": "1", "no": "6", "name_zh": "精氨酸酶缺乏症", "name_en": "Arginase Deficiency", "orpha": [ { "orpha": "90", "name_zh": "精氨酸血症", "name_en": "Argininemia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008814", "omim": "207800", "icd10": "E72.2", "icd11": "5C50.A2" } ] }, { "batch": "1", "no": "7", "name_zh": "热纳综合征（窒息性胸腔失养症）", "name_en": "Asphyxiating Thoracic Dystrophy (Jeune Syndrome)", "orpha": [ { "orpha": "474", "name_zh": "热纳综合征", "name_en": "Jeune syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018770", "omim": "208500;611263;613091;613819;614376;615630;615633;616300;617088;619479", "icd10": "Q77.2", "icd11": "LD24.B1" } ] }, { "batch": "1", "no": "8", "name_zh": "非典型溶血性尿毒症", "name_en": "Atypical Hemolytic Uremic Syndrome", "orpha": [ { "orpha": "2134", "name_zh": "非典型溶血尿毒综合征", "name_en": "Atypical hemolytic uremic syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0016244", "omim": "235400;609814;612922;612923;612924;612925;612926;615008", "icd10": "D59.3", "icd11": "3A10.Y" } ] }, { "batch": "1", "no": "9", "name_zh": "自身免疫性脑炎", "name_en": "Autoimmune Encephalitis", "orpha": [ { "orpha": "622014", "name_zh": "", "name_en": "Autoimmune encephalitis", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0020640", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "10", "name_zh": "自身免疫性垂体炎", "name_en": "Autoimmune Hypophysitis", "orpha": [ { "orpha": "95506", "name_zh": "原发性垂体炎", "name_en": "Primary hypophysitis", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0019835", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "11", "name_zh": "自身免疫性胰岛素受体病", "name_en": "Autoimmune Insulin Receptopathy (Type B insulin resistance)", "orpha": [ { "orpha": "2298", "name_zh": "胰岛素抵抗综合征B型", "name_en": "Insulin-resistance syndrome type B", "scope": "Disorder", "method": "curated", "note": "B 型胰岛素抵抗综合征 [high]", "mondo": "0016464", "omim": "", "icd10": "E34.8", "icd11": "5A44" } ] }, { "batch": "1", "no": "12", "name_zh": "β-酮硫解酶缺乏症", "name_en": "Beta-ketothiolase Deficiency", "orpha": [ { "orpha": "134", "name_zh": "β-酮硫解酶缺乏", "name_en": "Beta-ketothiolase deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0008760", "omim": "203750", "icd10": "E71.1", "icd11": "5C50.DY" } ] }, { "batch": "1", "no": "13", "name_zh": "生物素酶缺乏症", "name_en": "Biotinidase Deficiency", "orpha": [ { "orpha": "79241", "name_zh": "生物素酶缺陷症", "name_en": "Biotinidase deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0009665", "omim": "253260", "icd10": "E53.8", "icd11": "5C50.E0" } ] }, { "batch": "1", "no": "14", "name_zh": "心脏离子通道病", "name_en": "Cardic Ion Channelopathies", "orpha": [] }, { "batch": "1", "no": "15", "name_zh": "原发性肉碱缺乏症", "name_en": "Carnitine Deficiency", "orpha": [ { "orpha": "158", "name_zh": "系统性原发性肉碱缺乏症", "name_en": "Systemic primary carnitine deficiency", "scope": "Disorder", "method": "curated", "note": "系统性原发性肉碱缺乏症（SLC22A5） [high]", "mondo": "0008919", "omim": "212140", "icd10": "E71.3", "icd11": "5C52.00" } ] }, { "batch": "1", "no": "16", "name_zh": "Castleman病", "name_en": "Castleman Disease", "orpha": [ { "orpha": "160", "name_zh": "Castleman病", "name_en": "Castleman disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0015564", "omim": "148000", "icd10": "D47.7", "icd11": "4B2Y" } ] }, { "batch": "1", "no": "17", "name_zh": "腓骨肌萎缩症", "name_en": "Charcot-Marie-Tooth Disease", "orpha": [ { "orpha": "166", "name_zh": "腓骨肌萎缩症/遗传性运动感觉性神经病", "name_en": "Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy", "scope": "Group of disorders", "method": "curated", "note": "CMT / 遗传性运动感觉神经病 组 [high]", "mondo": "15626", "omim": "", "icd10": "", "icd11": "8C20" } ] }, { "batch": "1", "no": "18", "name_zh": "瓜氨酸血症", "name_en": "Citrullinemia", "orpha": [ { "orpha": "187", "name_zh": "瓜氨酸血症", "name_en": "Citrullinemia", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0015991;15991", "omim": "", "icd10": "", "icd11": "5C50.A3" } ] }, { "batch": "1", "no": "19", "name_zh": "先天性肾上腺发育不良", "name_en": "Congenital Adrenal Hypoplasia", "orpha": [ { "orpha": "595337", "name_zh": "", "name_en": "Adrenal hypoplasia congenita", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "20", "name_zh": "先天性高胰岛素性低血糖血症", "name_en": "Congenital Hyperinsulinemic Hypoglycemia", "orpha": [ { "orpha": "657", "name_zh": "先天性孤立型高胰岛素血症", "name_en": "Congenital isolated hyperinsulinism", "scope": "Group of disorders", "method": "curated", "note": "先天性孤立型高胰岛素血症 [high]", "mondo": "0019010;19010", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "21", "name_zh": "先天性肌无力综合征", "name_en": "Congenital Myasthenic Syndrome", "orpha": [ { "orpha": "590", "name_zh": "先天性肌无力综合征", "name_en": "Congenital myasthenic syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018940", "omim": "254190;254210;254300;601462;603034;605809;608930;608931;610542;614198;614750;615120;616040;616224;616227;616228;616304;616313;616314;616321;616322;616323;616324;616325;616326;616330;616720;617143;617239;618197;618198;618323;619461;620451;621455", "icd10": "G70.2", "icd11": "8C61" } ] }, { "batch": "1", "no": "22", "name_zh": "先天性肌强直（非营养不良性肌强直综合征）", "name_en": "Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)", "orpha": [ { "orpha": "614", "name_zh": "先天性肌强直", "name_en": "Thomsen and Becker disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009710", "omim": "160800;255700", "icd10": "G71.1", "icd11": "8C71.2" }, { "orpha": "206973", "name_zh": "先天性肌强直", "name_en": "Congenital myotonia", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "16121", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "23", "name_zh": "先天性脊柱侧弯", "name_en": "Congenital Scoliosis", "orpha": [] }, { "batch": "1", "no": "24", "name_zh": "冠状动脉扩张病", "name_en": "Coronary Artery Ectasia", "orpha": [] }, { "batch": "1", "no": "25", "name_zh": "先天性纯红细胞再生障碍性贫血", "name_en": "Diamond-Blackfan Anemia", "orpha": [ { "orpha": "124", "name_zh": "Diamond-Blackfan贫血", "name_en": "Diamond-Blackfan anemia", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0015253", "omim": "105650", "icd10": "D61.0", "icd11": "3A60.1" } ] }, { "batch": "1", "no": "26", "name_zh": "Erdheim-Chester病", "name_en": "Erdheim-Chester Disease", "orpha": [ { "orpha": "35687", "name_zh": "Erdheim-Chester病", "name_en": "Erdheim-Chester disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018153", "omim": "", "icd10": "D76.3", "icd11": "XH1VJ3" } ] }, { "batch": "1", "no": "27", "name_zh": "法布雷病", "name_en": "Fabry Disease", "orpha": [ { "orpha": "324", "name_zh": "法布里病", "name_en": "Fabry disease", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0010526", "omim": "301500", "icd10": "E75.2", "icd11": "5C56.01" } ] }, { "batch": "1", "no": "28", "name_zh": "家族性地中海热", "name_en": "Familial Mediterranean Fever", "orpha": [ { "orpha": "342", "name_zh": "家族性地中海热", "name_en": "Familial Mediterranean fever", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018088", "omim": "249100", "icd10": "E85.0", "icd11": "4A60.0" } ] }, { "batch": "1", "no": "29", "name_zh": "范可尼贫血", "name_en": "Fanconi Anemia", "orpha": [ { "orpha": "84", "name_zh": "范科尼贫血", "name_en": "Fanconi anemia", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0019391", "omim": "227650", "icd10": "D61.0", "icd11": "3A70.0" } ] }, { "batch": "1", "no": "30", "name_zh": "半乳糖血症", "name_en": "Galactosemia", "orpha": [ { "orpha": "352", "name_zh": "半乳糖血症", "name_en": "Galactosemia", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0018116;18116", "omim": "", "icd10": "", "icd11": "5C51.4Y" } ] }, { "batch": "1", "no": "31", "name_zh": "戈谢病", "name_en": "Gaucher’s Disease", "orpha": [ { "orpha": "355", "name_zh": "戈谢病", "name_en": "Gaucher disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018150", "omim": "230800;230900;231000;231005;608013;610539", "icd10": "E75.2", "icd11": "5C56.0Y" } ] }, { "batch": "1", "no": "32", "name_zh": "全身型重症肌无力", "name_en": "Generalized Myasthenia Gravis", "orpha": [ { "orpha": "589", "name_zh": "重症肌无力", "name_en": "Myasthenia gravis", "scope": "Disorder", "method": "curated", "note": "Orphanet 未按全身型/眼肌型细分 [high]", "mondo": "0009688", "omim": "254200", "icd10": "G70.0", "icd11": "8C60" } ] }, { "batch": "1", "no": "33", "name_zh": "Gitelman 综合征", "name_en": "Gitelman Syndrome", "orpha": [ { "orpha": "358", "name_zh": "Gitelman综合征", "name_en": "Gitelman syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009904", "omim": "263800", "icd10": "N15.8", "icd11": "5C64.41" } ] }, { "batch": "1", "no": "34", "name_zh": "戊二酸血症I型", "name_en": "Glutaric Acidemia Type I", "orpha": [ { "orpha": "25", "name_zh": "戊二酰-辅酶A脱氢酶缺乏", "name_en": "Glutaryl-CoA dehydrogenase deficiency", "scope": "Disorder", "method": "curated", "note": "戊二酰辅酶A脱氢酶缺乏 = 戊二酸血症 I 型 [high]", "mondo": "0009281", "omim": "231670", "icd10": "E72.3", "icd11": "5C50.E1" } ] }, { "batch": "1", "no": "35", "name_zh": "糖原累积病（I型、Ⅱ型）", "name_en": "Glycogen Storage Disease (Type I、II）", "orpha": [ { "orpha": "79201", "name_zh": "糖原贮积症", "name_en": "Glycogen storage disease", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0002412;2412", "omim": "", "icd10": "E74.0", "icd11": "5C51.3" } ] }, { "batch": "1", "no": "36", "name_zh": "血友病", "name_en": "Hemophilia", "orpha": [ { "orpha": "448", "name_zh": "血友病", "name_en": "Hemophilia", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0018660;18660", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "37", "name_zh": "肝豆状核变性", "name_en": "Hepatolenticular Degeneration(Wilson Disease)", "orpha": [ { "orpha": "905", "name_zh": "肝豆状核变性", "name_en": "Wilson disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0010200", "omim": "277900", "icd10": "E83.0", "icd11": "5C64.00" } ] }, { "batch": "1", "no": "38", "name_zh": "遗传性血管性水肿", "name_en": "Hereditary Angioedema (HAE)", "orpha": [ { "orpha": "91378", "name_zh": "遗传性血管性水肿", "name_en": "Hereditary angioedema", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0019623", "omim": "106100;610618;619360;619361;619363;619366;619367", "icd10": "", "icd11": "4A00.14" } ] }, { "batch": "1", "no": "39", "name_zh": "遗传性大疱性表皮松解症", "name_en": "Hereditary Epidermolysis Bullosa", "orpha": [ { "orpha": "79361", "name_zh": "遗传性大疱性表皮松解症", "name_en": "Inherited epidermolysis bullosa", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0019276;19276", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "40", "name_zh": "遗传性果糖不耐受症", "name_en": "Hereditary Fructose Intolerance", "orpha": [ { "orpha": "469", "name_zh": "遗传性果糖不耐受症", "name_en": "Hereditary fructose intolerance", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009249", "omim": "229600", "icd10": "E74.1", "icd11": "5C51.50" } ] }, { "batch": "1", "no": "41", "name_zh": "遗传性低镁血症", "name_en": "Hereditary Hypomagnesemia", "orpha": [] }, { "batch": "1", "no": "42", "name_zh": "遗传性多发脑梗死性痴呆", "name_en": "Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL)", "orpha": [ { "orpha": "136", "name_zh": "常染色体显性大脑动脉病-皮质下梗死-脑白质病", "name_en": "CADASIL", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0000914", "omim": "125310", "icd10": "I67.8", "icd11": "8B22.C0" } ] }, { "batch": "1", "no": "43", "name_zh": "遗传性痉挛性截瘫", "name_en": "Hereditary Spastic Paraplegia", "orpha": [ { "orpha": "685", "name_zh": "遗传性痉挛性截瘫", "name_en": "Hereditary spastic paraplegia", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0019064;19064", "omim": "", "icd10": "G11.4", "icd11": "8B44.0" } ] }, { "batch": "1", "no": "44", "name_zh": "全羧化酶合成酶缺乏症", "name_en": "Holocarboxylase Synthetase Deficiency", "orpha": [ { "orpha": "79242", "name_zh": "羧化酶合酶缺陷症", "name_en": "Holocarboxylase synthetase deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0009666", "omim": "253270", "icd10": "E53.8", "icd11": "5C50.E0" } ] }, { "batch": "1", "no": "45", "name_zh": "同型半胱氨酸血症", "name_en": "Homocysteinemia", "orpha": [ { "orpha": "622", "name_zh": "同型半胱氨酸血症不伴甲基丙二酸尿症", "name_en": "Homocystinuria without methylmalonic aciduria", "scope": "Disorder", "method": "curated", "note": "同型半胱氨酸血症（不伴甲基丙二酸尿症） [medium]", "mondo": "0018964", "omim": "236270;250940;277410", "icd10": "E72.1", "icd11": "5C50.B" } ] }, { "batch": "1", "no": "46", "name_zh": "纯合子家族性高胆固醇血症", "name_en": "Homozygous Hypercholesterolemia", "orpha": [ { "orpha": "391665", "name_zh": "纯合家族性高胆固醇血症", "name_en": "Homozygous familial hypercholesterolemia", "scope": "Disorder", "method": "curated", "note": "纯合子型家族性高胆固醇血症 [high]", "mondo": "0018328", "omim": "143890;144010;602247;603776;603813", "icd10": "E78.0", "icd11": "5C80.00" } ] }, { "batch": "1", "no": "47", "name_zh": "亨廷顿舞蹈病", "name_en": "Huntington Disease", "orpha": [ { "orpha": "399", "name_zh": "亨廷顿舞蹈病", "name_en": "Huntington disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0007739", "omim": "143100", "icd10": "G10", "icd11": "8A01.10" } ] }, { "batch": "1", "no": "48", "name_zh": "HHH综合征", "name_en": "Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome", "orpha": [ { "orpha": "415", "name_zh": "高鸟氨酸血症-高氨血症-高瓜氨酸尿综合征", "name_en": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome", "scope": "Disorder", "method": "curated", "note": "HHH 综合征 [high]", "mondo": "0009393", "omim": "238970", "icd10": "E72.4", "icd11": "5C50.AY" } ] }, { "batch": "1", "no": "49", "name_zh": "高苯丙氨酸血症", "name_en": "Hyperphenylalaninemia", "orpha": [ { "orpha": "708881", "name_zh": "", "name_en": "Phenylalanine hydroxylase deficiency", "scope": "Group of disorders", "method": "curated", "note": "苯丙氨酸羟化酶缺乏 组；BH4 型另见目录 113 [high]", "mondo": "", "omim": "261600", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "50", "name_zh": "低碱性磷酸酶血症", "name_en": "Hypophosphatasia", "orpha": [ { "orpha": "436", "name_zh": "低磷酸酯酶症", "name_en": "Hypophosphatasia", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0018570", "omim": "146300;241500;241510", "icd10": "E83.3", "icd11": "5C64.3" } ] }, { "batch": "1", "no": "51", "name_zh": "低磷性佝偻病", "name_en": "Hypophosphatemic Rickets", "orpha": [ { "orpha": "437", "name_zh": "低磷性佝偻病", "name_en": "Hypophosphatemic rickets", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0000044;44", "omim": "", "icd10": "", "icd11": "5C63.22" } ] }, { "batch": "1", "no": "52", "name_zh": "特发性心肌病", "name_en": "Idiopathic Cardiomyopathy", "orpha": [] }, { "batch": "1", "no": "53", "name_zh": "特发性低促性腺激素性性腺功能减退症", "name_en": "Idiopathic Hypogonadotropic Hypogonadism", "orpha": [ { "orpha": "174590", "name_zh": "先天性低促性腺激素性性腺功能减退症", "name_en": "Congenital hypogonadotropic hypogonadism", "scope": "Group of disorders", "method": "curated", "note": "Orphanet 用「先天性」，目录用「特发性」，同一概念 [high]", "mondo": "0015770;15770", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "54", "name_zh": "特发性肺动脉高压", "name_en": "Idiopathic Pulmonary Arterial Hypertension", "orpha": [ { "orpha": "275766", "name_zh": "特发性肺动脉高压", "name_en": "Idiopathic pulmonary arterial hypertension", "scope": "Subtype of disorder", "method": "auto_exact_zh", "note": "", "mondo": "0017147;17147;1999", "omim": "", "icd10": "I27.0", "icd11": "BB01.0" } ] }, { "batch": "1", "no": "55", "name_zh": "特发性肺纤维化", "name_en": "Idiopathic Pulmonary Fibrosis", "orpha": [ { "orpha": "2032", "name_zh": "特发性肺纤维化", "name_en": "Idiopathic pulmonary fibrosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "800504", "omim": "178500", "icd10": "J84.1", "icd11": "CB03.4" } ] }, { "batch": "1", "no": "56", "name_zh": "IgG4相关性疾病", "name_en": "IgG4 related Disease", "orpha": [ { "orpha": "284264", "name_zh": "IgG4相关疾病", "name_en": "IgG4-related disease", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "17287", "omim": "", "icd10": "", "icd11": "4A43.0" } ] }, { "batch": "1", "no": "57", "name_zh": "先天性胆汁酸合成障碍", "name_en": "Inborn Errors of Bile Acid Synthesis", "orpha": [ { "orpha": "485631", "name_zh": "先天性胆汁酸合成缺陷", "name_en": "Congenital bile acid synthesis defect", "scope": "Group of disorders", "method": "curated", "note": "先天性胆汁酸合成障碍 组 [high]", "mondo": "0018841;18841", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "58", "name_zh": "异戊酸血症", "name_en": "Isovaleric Acidemia", "orpha": [ { "orpha": "33", "name_zh": "异戊酸血症", "name_en": "Isovaleric acidemia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009475", "omim": "243500", "icd10": "E71.1", "icd11": "5C50.E0" } ] }, { "batch": "1", "no": "59", "name_zh": "卡尔曼综合征", "name_en": "Kallmann Syndrome", "orpha": [ { "orpha": "478", "name_zh": "Kallmann综合征", "name_en": "Kallmann syndrome", "scope": "Subtype of disorder", "method": "auto_exact_en", "note": "", "mondo": "0018800", "omim": "147950;244200;308700;610628;612370;612702;614837;614838;614840;614858;614880;614897;615266;615267;615269;615270;615271;616030;618841", "icd10": "E23.0", "icd11": "5A61.2" } ] }, { "batch": "1", "no": "60", "name_zh": "朗格汉斯组织细胞增生症", "name_en": "Langerhans Cell Histiocytosis", "orpha": [ { "orpha": "389", "name_zh": "朗格罕细胞组织细胞增生症", "name_en": "Langerhans cell histiocytosis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0018310", "omim": "604856", "icd10": "C96.0;C96.5;C96.6", "icd11": "2B31.2" } ] }, { "batch": "1", "no": "61", "name_zh": "莱伦氏综合征", "name_en": "Laron Syndrome", "orpha": [ { "orpha": "633", "name_zh": "Laron综合征", "name_en": "Laron syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0009877", "omim": "262500", "icd10": "E34.3", "icd11": "5A61.0" } ] }, { "batch": "1", "no": "62", "name_zh": "Leber遗传性视神经病变", "name_en": "Leber Hereditary Optic Neuropathy", "orpha": [ { "orpha": "104", "name_zh": "Leber遗传性视神经病", "name_en": "Leber hereditary optic neuropathy", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0010788", "omim": "535000", "icd10": "H47.2", "icd11": "8C73.Y" } ] }, { "batch": "1", "no": "63", "name_zh": "长链3-羟酰基辅酶A脱氢酶缺乏症", "name_en": "Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency", "orpha": [ { "orpha": "5", "name_zh": "长链3-羟基乙酰基-CoA脱氢酶缺乏", "name_en": "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0012173", "omim": "609016", "icd10": "E71.3", "icd11": "5C52.01" } ] }, { "batch": "1", "no": "64", "name_zh": "淋巴管肌瘤病", "name_en": "Lymphangioleiomyomatosis (LAM)", "orpha": [ { "orpha": "538", "name_zh": "淋巴管肌瘤病", "name_en": "Lymphangioleiomyomatosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0006277", "omim": "606690", "icd10": "D48.7", "icd11": "CB07" } ] }, { "batch": "1", "no": "65", "name_zh": "赖氨酸尿蛋白不耐受症", "name_en": "Lysinuric Protein Intolerance", "orpha": [ { "orpha": "470", "name_zh": "赖氨酸尿性蛋白耐受不良", "name_en": "Lysinuric protein intolerance", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0009109", "omim": "222700", "icd10": "E72.0", "icd11": "5C60.Y" } ] }, { "batch": "1", "no": "66", "name_zh": "溶酶体酸性脂肪酶缺乏症", "name_en": "Lysosomal Acid Lipase Deficiency", "orpha": [ { "orpha": "275761", "name_zh": "溶酶体酸性脂肪酶缺乏症", "name_en": "Lysosomal acid lipase deficiency", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "800449", "omim": "278000", "icd10": "E75.5", "icd11": "5C56.0Y" } ] }, { "batch": "1", "no": "67", "name_zh": "枫糖尿症", "name_en": "Maple Syrup Urine Disease", "orpha": [ { "orpha": "511", "name_zh": "枫糖尿病", "name_en": "Maple syrup urine disease", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0009563", "omim": "248600;615135;620698;620699", "icd10": "E71.0", "icd11": "5C50.D0" } ] }, { "batch": "1", "no": "68", "name_zh": "马凡综合征", "name_en": "Marfan Syndrome", "orpha": [ { "orpha": "558", "name_zh": "马方综合征", "name_en": "Marfan syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0007947", "omim": "154700;610168", "icd10": "Q87.4", "icd11": "LD28.01" } ] }, { "batch": "1", "no": "69", "name_zh": "McCune-Albrigh综合征", "name_en": "McCune-Albright Syndrome", "orpha": [ { "orpha": "562", "name_zh": "McCune-Albright综合征", "name_en": "McCune-Albright syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0018919", "omim": "174800", "icd10": "Q78.1", "icd11": "FB80.0" } ] }, { "batch": "1", "no": "70", "name_zh": "中链酰基辅酶A脱氢酶缺乏症", "name_en": "Medium Chain Acyl-CoA Dehydrogenase Deficiency", "orpha": [ { "orpha": "42", "name_zh": "中链酰基辅酶A脱氢酶缺乏", "name_en": "Medium chain acyl-CoA dehydrogenase deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0008721", "omim": "201450", "icd10": "E71.3", "icd11": "5C52.01" } ] }, { "batch": "1", "no": "71", "name_zh": "甲基丙二酸血症", "name_en": "Methylmalonic Academia", "orpha": [ { "orpha": "26", "name_zh": "甲基丙二酸血症伴高胱氨酸尿症", "name_en": "Methylmalonic acidemia with homocystinuria", "scope": "Disorder", "method": "curated", "note": "不伴 / 伴同型半胱氨酸尿症两支合起来覆盖目录条目 [high]", "mondo": "0016826", "omim": "277380;277400;277410;614857", "icd10": "E71.1", "icd11": "5C50.E0" }, { "orpha": "293355", "name_zh": "不伴同型半胱氨酸尿症的甲基丙二酸血症", "name_en": "Methylmalonic acidemia without homocystinuria", "scope": "Group of disorders", "method": "curated", "note": "不伴 / 伴同型半胱氨酸尿症两支合起来覆盖目录条目 [high]", "mondo": "17390", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "72", "name_zh": "线粒体脑肌病", "name_en": "Mitochodrial Encephalomyopathy", "orpha": [] }, { "batch": "1", "no": "73", "name_zh": "黏多糖贮积症", "name_en": "Mucopolysaccharidosis", "orpha": [ { "orpha": "79213", "name_zh": "粘多糖贮积症", "name_en": "Mucopolysaccharidosis", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0019249;19249", "omim": "", "icd10": "", "icd11": "5C56.3" } ] }, { "batch": "1", "no": "74", "name_zh": "多灶性运动神经病", "name_en": "Multifocal Motor Neuropathy", "orpha": [ { "orpha": "641", "name_zh": "多灶性运动神经病", "name_en": "Multifocal motor neuropathy", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018979", "omim": "", "icd10": "G61.8", "icd11": "8C01.3" } ] }, { "batch": "1", "no": "75", "name_zh": "多种酰基辅酶A脱氢酶缺乏症", "name_en": "Multiple Acyl-CoA Dehydrogenase Deficiency", "orpha": [ { "orpha": "26791", "name_zh": "多种酰基辅酶A脱氢酶缺乏症", "name_en": "Multiple acyl-CoA dehydrogenase deficiency", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009282", "omim": "231680", "icd10": "E71.3", "icd11": "5C52.01" } ] }, { "batch": "1", "no": "76", "name_zh": "多发性硬化", "name_en": "Multiple Sclerosis", "orpha": [ { "orpha": "802", "name_zh": "多发性硬化", "name_en": "NON RARE IN EUROPE: Multiple sclerosis", "scope": "Disorder", "method": "curated", "note": "Orphanet 标注「在欧洲不算罕见」——中欧罕见性认定不同，值得单独留意 [high]", "mondo": "", "omim": "", "icd10": "G35", "icd11": "" } ] }, { "batch": "1", "no": "77", "name_zh": "多系统萎缩", "name_en": "Multiple System Atrophy", "orpha": [ { "orpha": "102", "name_zh": "多系统萎缩", "name_en": "Multiple system atrophy", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0007803", "omim": "146500", "icd10": "G23.2;G23.3", "icd11": "8D87.0" } ] }, { "batch": "1", "no": "78", "name_zh": "肌强直性营养不良", "name_en": "Myotonic Dystrophy", "orpha": [ { "orpha": "206647", "name_zh": "强直性营养不良", "name_en": "Myotonic dystrophy", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0016107;16107", "omim": "", "icd10": "G71.1", "icd11": "8C71.0" } ] }, { "batch": "1", "no": "79", "name_zh": "N-乙酰谷氨酸合成酶缺乏症", "name_en": "N-acetylglutamate Synthase Deficiency", "orpha": [ { "orpha": "927", "name_zh": "N-乙酰谷氨酸合成酶缺乏所致高氨血症", "name_en": "Hyperammonemia due to N-acetylglutamate synthase deficiency", "scope": "Disorder", "method": "curated", "note": "NAGS 缺乏所致高氨血症 [high]", "mondo": "0009377", "omim": "237310", "icd10": "E72.2", "icd11": "5C50.AY" } ] }, { "batch": "1", "no": "80", "name_zh": "新生儿糖尿病", "name_en": "Neonatal Diabetes Mellitus", "orpha": [ { "orpha": "224", "name_zh": "新生儿糖尿病", "name_en": "Neonatal diabetes mellitus", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0016391;16391", "omim": "", "icd10": "P70.2", "icd11": "KB60.2" } ] }, { "batch": "1", "no": "81", "name_zh": "视神经脊髓炎", "name_en": "Neuromyelitis Optica", "orpha": [ { "orpha": "71211", "name_zh": "视神经脊髓炎", "name_en": "Neuromyelitis optica spectrum disorder", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0019100;19100", "omim": "", "icd10": "G36.0", "icd11": "8A43" } ] }, { "batch": "1", "no": "82", "name_zh": "尼曼匹克病", "name_en": "Niemann-Pick Disease", "orpha": [ { "orpha": "646", "name_zh": "Niemann-Pick病C型", "name_en": "Niemann-Pick disease type C", "scope": "Disorder", "method": "curated", "note": "尼曼匹克病 A/B/C/D 四支 [high]", "mondo": "0018982", "omim": "257220", "icd10": "E75.2", "icd11": "5C56.0Y" }, { "orpha": "77292", "name_zh": "尼曼-匹克病A型", "name_en": "Infantile neurovisceral acid sphingomyelinase deficiency", "scope": "Disorder", "method": "curated", "note": "尼曼匹克病 A/B/C/D 四支 [high]", "mondo": "0009756", "omim": "257200", "icd10": "E75.2", "icd11": "5C56.0Y" }, { "orpha": "77293", "name_zh": "尼曼-匹克病B型", "name_en": "Chronic visceral acid sphingomyelinase deficiency", "scope": "Disorder", "method": "curated", "note": "尼曼匹克病 A/B/C/D 四支 [high]", "mondo": "0011871", "omim": "607616", "icd10": "E75.2", "icd11": "5C56.0Y" }, { "orpha": "79289", "name_zh": "尼曼-匹克病D型", "name_en": "Niemann-Pick disease type D", "scope": "Disorder", "method": "curated", "note": "尼曼匹克病 A/B/C/D 四支 [high]", "mondo": "", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "83", "name_zh": "非综合征性耳聋", "name_en": "Non-Syndromic Deafness", "orpha": [ { "orpha": "87884", "name_zh": "非综合征型遗传性耳聋", "name_en": "Rare non-syndromic genetic deafness", "scope": "Disorder", "method": "curated", "note": "罕见非综合征性遗传性耳聋 [high]", "mondo": "0019497", "omim": "", "icd10": "H90.5", "icd11": "AB50" } ] }, { "batch": "1", "no": "84", "name_zh": "Noonan综合征", "name_en": "Noonan Syndrome", "orpha": [ { "orpha": "648", "name_zh": "Noonan综合征", "name_en": "Noonan syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018997", "omim": "163950", "icd10": "Q87.1", "icd11": "LD2F.15" } ] }, { "batch": "1", "no": "85", "name_zh": "鸟氨酸氨甲酰基转移酶缺乏症", "name_en": "Ornithine Transcarbamylase Deficiency", "orpha": [ { "orpha": "664", "name_zh": "鸟氨酸氨甲酰转移酶缺乏症", "name_en": "Ornithine transcarbamylase deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0010703", "omim": "311250", "icd10": "E72.4", "icd11": "5C50.AY" } ] }, { "batch": "1", "no": "86", "name_zh": "成骨不全症（脆骨病）", "name_en": "Osteogenesis Imperfecta (Brittle Bone Disease)", "orpha": [ { "orpha": "666", "name_zh": "成骨不全", "name_en": "Osteogenesis imperfecta", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0019019", "omim": "166200;166210;166220;166230;259420;259440;301014;610682;610915;610967;610968;613848;613849;613982;614856;615066;615220;616229;616507;619131;619795", "icd10": "Q78.0", "icd11": "LD24.K0" } ] }, { "batch": "1", "no": "87", "name_zh": "帕金森病（青年型、早发型）", "name_en": "Parkinson Disease (Young-onset , Early-onset)", "orpha": [ { "orpha": "2828", "name_zh": "青年发病型帕金森病", "name_en": "Young-onset Parkinson disease", "scope": "Disorder", "method": "curated", "note": "Orphanet 无「早发型」单列条目 [medium]", "mondo": "0017279", "omim": "300557;600116;602404;605909;606324;606852;610297;613643;615528;616840", "icd10": "G20", "icd11": "8A00.00" } ] }, { "batch": "1", "no": "88", "name_zh": "阵发性睡眠性血红蛋白尿", "name_en": "Paroxysmal Nocturnal Hemoglobinuria", "orpha": [ { "orpha": "447", "name_zh": "阵发性睡眠性血红蛋白尿症", "name_en": "Paroxysmal nocturnal hemoglobinuria", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0100244", "omim": "300818", "icd10": "D59.5", "icd11": "3A21.0" } ] }, { "batch": "1", "no": "89", "name_zh": "黑斑息肉综合征", "name_en": "Peutz-Jeghers Syndrome", "orpha": [ { "orpha": "2869", "name_zh": "Peutz-Jeghers综合征", "name_en": "Peutz-Jeghers syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0008280", "omim": "175200", "icd10": "Q85.8", "icd11": "LD2D.0" } ] }, { "batch": "1", "no": "90", "name_zh": "苯丙酮尿症", "name_en": "Phenylketonuria", "orpha": [ { "orpha": "716", "name_zh": "苯丙酮尿症", "name_en": "Phenylketonuria", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009861", "omim": "261600", "icd10": "E70.0;E70.1", "icd11": "5C50.0" } ] }, { "batch": "1", "no": "91", "name_zh": "POEMS综合征", "name_en": "POEMS Syndrome", "orpha": [ { "orpha": "2905", "name_zh": "POEMS综合征", "name_en": "POEMS syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0017364", "omim": "", "icd10": "D47.2", "icd11": "2A83.Y" } ] }, { "batch": "1", "no": "92", "name_zh": "卟啉病", "name_en": "Porphyria", "orpha": [ { "orpha": "738", "name_zh": "卟啉病", "name_en": "Porphyria", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "19142", "omim": "", "icd10": "E80.1;E80.2", "icd11": "5C58.1" } ] }, { "batch": "1", "no": "93", "name_zh": "Prader-Willi综合征", "name_en": "Prader-Willi Syndrome", "orpha": [ { "orpha": "739", "name_zh": "Prader-Willi综合征", "name_en": "Prader-Willi syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008300", "omim": "176270", "icd10": "Q87.1", "icd11": "LD90.3" } ] }, { "batch": "1", "no": "94", "name_zh": "原发性联合免疫缺陷", "name_en": "Primary Combined Immune Deficiency", "orpha": [ { "orpha": "183660", "name_zh": "重症联合免疫缺陷", "name_en": "Severe combined immunodeficiency", "scope": "Group of disorders", "method": "curated", "note": "目录条目范围宽于 SCID，故并入非重症联合免疫缺陷 [medium]", "mondo": "0015974;15974", "omim": "", "icd10": "", "icd11": "4A01.10" }, { "orpha": "480549", "name_zh": "非严重联合免疫缺陷", "name_en": "Non-severe combined immunodeficiency", "scope": "Group of disorders", "method": "curated", "note": "目录条目范围宽于 SCID，故并入非重症联合免疫缺陷 [medium]", "mondo": "18814", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "95", "name_zh": "原发性遗传性肌张力不全", "name_en": "Primary Hereditary Dystonia", "orpha": [ { "orpha": "156159", "name_zh": "孤立性肌张力障碍", "name_en": "Isolated dystonia", "scope": "Group of disorders", "method": "curated", "note": "孤立性肌张力障碍 = 原发性肌张力障碍的现代命名 [high]", "mondo": "0015494;15494", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "96", "name_zh": "原发性轻链型淀粉样变", "name_en": "Primary Light Chain Amyloidosis", "orpha": [ { "orpha": "85443", "name_zh": "AL型淀粉样变性", "name_en": "AL amyloidosis", "scope": "Disorder", "method": "curated", "note": "AL 型淀粉样变性 [high]", "mondo": "0019438", "omim": "254500", "icd10": "E85.4;E85.9", "icd11": "5D00.0" } ] }, { "batch": "1", "no": "97", "name_zh": "进行性家族性肝内胆汁淤积症", "name_en": "Progressive Familial Intrahepatic Cholestasis", "orpha": [ { "orpha": "172", "name_zh": "进行性家族性肝内胆汁淤积症", "name_en": "Progressive familial intrahepatic cholestasis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0015762", "omim": "211600;601847;602347;615878;617049;619484;619662;619849;619868;620010", "icd10": "K76.8", "icd11": "5C58.03" } ] }, { "batch": "1", "no": "98", "name_zh": "进行性肌营养不良", "name_en": "Progressive Muscular Dystrophy", "orpha": [ { "orpha": "206644", "name_zh": "进行性肌营养不良症", "name_en": "Progressive muscular dystrophy", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0016106;16106", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "99", "name_zh": "丙酸血症", "name_en": "Propionic Acidemia", "orpha": [ { "orpha": "35", "name_zh": "丙酸血症", "name_en": "Propionic acidemia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0011628", "omim": "606054", "icd10": "E71.1", "icd11": "5C50.E0" } ] }, { "batch": "1", "no": "100", "name_zh": "肺泡蛋白沉积症", "name_en": "Pulmonary Alveolar Proteinosis", "orpha": [ { "orpha": "747", "name_zh": "自身免疫性肺泡蛋白沉积症", "name_en": "Autoimmune pulmonary alveolar proteinosis", "scope": "Disorder", "method": "curated", "note": "自身免疫性 / 遗传性 / 继发性三型 [high]", "mondo": "0012579", "omim": "610910", "icd10": "J84.0", "icd11": "CB04.31" }, { "orpha": "264675", "name_zh": "遗传性肺泡蛋白沉积症", "name_en": "Hereditary pulmonary alveolar proteinosis", "scope": "Disorder", "method": "curated", "note": "自身免疫性 / 遗传性 / 继发性三型 [high]", "mondo": "0012580", "omim": "300770;614370", "icd10": "J84.0", "icd11": "CB04.31" }, { "orpha": "420259", "name_zh": "继发性肺泡蛋白沉着症", "name_en": "Secondary pulmonary alveolar proteinosis", "scope": "Disorder", "method": "curated", "note": "自身免疫性 / 遗传性 / 继发性三型 [high]", "mondo": "0018483", "omim": "", "icd10": "J84.0", "icd11": "CB04.31" } ] }, { "batch": "1", "no": "101", "name_zh": "肺囊性纤维化", "name_en": "Pulmonary Cystic Fibrosis", "orpha": [ { "orpha": "586", "name_zh": "囊性纤维化", "name_en": "Cystic fibrosis", "scope": "Disorder", "method": "curated", "note": "囊性纤维化（目录名冠以「肺」，实为同一病） [high]", "mondo": "0009061", "omim": "219700", "icd10": "E84", "icd11": "CA25" } ] }, { "batch": "1", "no": "102", "name_zh": "视网膜色素变性", "name_en": "Retinitis Pigmentosa", "orpha": [ { "orpha": "791", "name_zh": "色素性视网膜炎", "name_en": "Retinitis pigmentosa", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0019200", "omim": "268000", "icd10": "H35.5", "icd11": "9B70" } ] }, { "batch": "1", "no": "103", "name_zh": "视网膜母细胞瘤", "name_en": "Retinoblastoma", "orpha": [ { "orpha": "790", "name_zh": "视网膜母细胞瘤", "name_en": "Retinoblastoma", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008380", "omim": "180200", "icd10": "C69.2", "icd11": "2D02.2" } ] }, { "batch": "1", "no": "104", "name_zh": "重症先天性粒细胞缺乏症", "name_en": "Severe Congenital Neutropenia", "orpha": [ { "orpha": "42738", "name_zh": "重型先天性中性白细胞减少症", "name_en": "Severe congenital neutropenia", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0018542;18542", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "1", "no": "105", "name_zh": "婴儿严重肌阵挛性癫痫(Dravet综合征)", "name_en": "Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome)", "orpha": [ { "orpha": "33069", "name_zh": "Dravet综合征", "name_en": "Dravet syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0011794", "omim": "607208", "icd10": "G40.4", "icd11": "8A61.11" } ] }, { "batch": "1", "no": "106", "name_zh": "镰刀型细胞贫血病", "name_en": "Sickle Cell Disease", "orpha": [ { "orpha": "275752", "name_zh": "镰状细胞病及相关疾病", "name_en": "Sickle cell disease", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "17146", "omim": "", "icd10": "D57.0", "icd11": "" } ] }, { "batch": "1", "no": "107", "name_zh": "Silver-Russell综合征", "name_en": "Silver-Russell Syndrome", "orpha": [ { "orpha": "813", "name_zh": "Silver-Russell综合征", "name_en": "Silver-Russell syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008394", "omim": "180860", "icd10": "Q87.1", "icd11": "LD2F.1Y" } ] }, { "batch": "1", "no": "108", "name_zh": "谷固醇血症", "name_en": "Sitosterolemia", "orpha": [ { "orpha": "2882", "name_zh": "谷固醇血症", "name_en": "Sitosterolemia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008863", "omim": "210250", "icd10": "E78.0", "icd11": "5C52.1Y" } ] }, { "batch": "1", "no": "109", "name_zh": "脊髓延髓肌萎缩症（肯尼迪病）", "name_en": "Spinal and Bulbar Muscular Atrophy (Kennedy Disease)", "orpha": [ { "orpha": "481", "name_zh": "肯尼迪病", "name_en": "Kennedy disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0010735", "omim": "313200", "icd10": "G12.2", "icd11": "8B61.4" } ] }, { "batch": "1", "no": "110", "name_zh": "脊髓性肌萎缩症", "name_en": "Spinal Muscular Atrophy", "orpha": [ { "orpha": "70", "name_zh": "近端脊髓性肌萎缩", "name_en": "Proximal spinal muscular atrophy", "scope": "Disorder", "method": "curated", "note": "近端脊髓性肌萎缩（5q-SMA） [high]", "mondo": "0019079", "omim": "253300;253400;253550;271150", "icd10": "G12.0;G12.1", "icd11": "8B61.Y" } ] }, { "batch": "1", "no": "111", "name_zh": "脊髓小脑性共济失调", "name_en": "Spinocerebellar Ataxia", "orpha": [ { "orpha": "99", "name_zh": "常染色体显性遗传小脑型共济失调", "name_en": "Autosomal dominant cerebellar ataxia", "scope": "Group of disorders", "method": "curated", "note": "Orphanet 无 SCA 总概念；取常染色体显性遗传小脑共济失调 [medium]", "mondo": "0020380", "omim": "", "icd10": "", "icd11": "8A03.1Y" } ] }, { "batch": "1", "no": "112", "name_zh": "系统性硬化症", "name_en": "Systemic Sclerosis", "orpha": [ { "orpha": "90291", "name_zh": "系统性硬化症", "name_en": "Systemic sclerosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0005100", "omim": "181750", "icd10": "M34.0;M34.1;M34.2;M34.8;M34.9", "icd11": "4A42" } ] }, { "batch": "1", "no": "113", "name_zh": "四氢生物蝶呤缺乏症", "name_en": "Tetrahydrobiopterin Deficiency", "orpha": [ { "orpha": "238583", "name_zh": "四氢生物蝶呤缺乏性高苯丙氨酸血症", "name_en": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency", "scope": "Disorder", "method": "curated", "note": "四氢生物蝶呤缺乏所致高苯丙氨酸血症 [high]", "mondo": "0016543", "omim": "233910;261630;261640;264070", "icd10": "E70.1", "icd11": "5C59.01" } ] }, { "batch": "1", "no": "114", "name_zh": "结节性硬化症", "name_en": "Tuberous Sclerosis Complex", "orpha": [ { "orpha": "805", "name_zh": "复合型结节性硬化病", "name_en": "Tuberous sclerosis complex", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0001734", "omim": "191100;613254", "icd10": "Q85.1", "icd11": "LD2D.2" } ] }, { "batch": "1", "no": "115", "name_zh": "原发性酪氨酸血症", "name_en": "Tyrosinemia", "orpha": [ { "orpha": "882", "name_zh": "酪氨酸血症1型", "name_en": "Tyrosinemia type 1", "scope": "Disorder", "method": "curated", "note": "酪氨酸血症 1/2/3 型 [high]", "mondo": "0010161", "omim": "276700", "icd10": "E70.2", "icd11": "5C50.11" }, { "orpha": "28378", "name_zh": "酪氨酸血症II型", "name_en": "Tyrosinemia type 2", "scope": "Disorder", "method": "curated", "note": "酪氨酸血症 1/2/3 型 [high]", "mondo": "0010160", "omim": "276600", "icd10": "E70.2", "icd11": "5C50.12" }, { "orpha": "69723", "name_zh": "酪氨酸血症3型", "name_en": "Tyrosinemia type 3", "scope": "Disorder", "method": "curated", "note": "酪氨酸血症 1/2/3 型 [high]", "mondo": "0010162", "omim": "276710", "icd10": "E70.2", "icd11": "5C50.1Y" } ] }, { "batch": "1", "no": "116", "name_zh": "极长链酰基辅酶A脱氢酶缺乏症", "name_en": "Very Long Chain Acyl-CoA Dehydrogenase Deficiency", "orpha": [ { "orpha": "26793", "name_zh": "极长链酰基辅酶A脱氢酶缺乏症", "name_en": "Very long chain acyl-CoA dehydrogenase deficiency", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008723", "omim": "201475", "icd10": "E71.3", "icd11": "5C52.01" } ] }, { "batch": "1", "no": "117", "name_zh": "威廉姆斯综合征", "name_en": "Williams Syndrome", "orpha": [ { "orpha": "904", "name_zh": "威廉斯综合征", "name_en": "Williams syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0008678", "omim": "194050", "icd10": "Q93.8", "icd11": "LD44.70" } ] }, { "batch": "1", "no": "118", "name_zh": "湿疹血小板减少伴免疫缺陷综合征", "name_en": "Wiskott-Aldrich Syndrome", "orpha": [ { "orpha": "906", "name_zh": "Wiskott-Aldrich综合征", "name_en": "Wiskott-Aldrich syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0010518", "omim": "301000", "icd10": "D82.0", "icd11": "3B62.0Y" } ] }, { "batch": "1", "no": "119", "name_zh": "X-连锁无丙种球蛋白血症", "name_en": "X-linked Agammaglobulinemia", "orpha": [ { "orpha": "47", "name_zh": "X连锁无丙种球蛋白血症", "name_en": "X-linked agammaglobulinemia", "scope": "Subtype of disorder", "method": "auto_exact_zh", "note": "", "mondo": "0010421", "omim": "300755", "icd10": "D80.0", "icd11": "4A01.00" } ] }, { "batch": "1", "no": "120", "name_zh": "X-连锁肾上腺脑白质营养不良", "name_en": "X-linked Adrenoleukodystrophy", "orpha": [ { "orpha": "43", "name_zh": "X连锁肾上腺脑白质营养不良", "name_en": "X-linked adrenoleukodystrophy", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "", "omim": "300100", "icd10": "E71.3", "icd11": "5C57.1" } ] }, { "batch": "1", "no": "121", "name_zh": "X-连锁淋巴增生症", "name_en": "X-linked Lymphoproliferative Disease", "orpha": [ { "orpha": "2442", "name_zh": "X连锁淋巴增殖性疾病", "name_en": "X-linked lymphoproliferative disease", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0010627;10627", "omim": "300635;308240", "icd10": "", "icd11": "4A01.22" } ] }, { "batch": "2", "no": "1", "name_zh": "软骨发育不全", "name_en": "Achondroplasia", "orpha": [ { "orpha": "15", "name_zh": "软骨发育不全", "name_en": "Achondroplasia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0007037", "omim": "100800", "icd10": "Q77.4", "icd11": "LD24.00" } ] }, { "batch": "2", "no": "2", "name_zh": "获得性血友病", "name_en": "Acquired hemophilia", "orpha": [ { "orpha": "599480", "name_zh": "", "name_en": "Acquired hemophilia A", "scope": "Disorder", "method": "curated", "note": "获得性血友病 A / B [high]", "mondo": "0035735", "omim": "", "icd10": "D68.4", "icd11": "3B22" }, { "orpha": "599485", "name_zh": "", "name_en": "Acquired hemophilia B", "scope": "Disorder", "method": "curated", "note": "获得性血友病 A / B [high]", "mondo": "0035736", "omim": "", "icd10": "D68.4", "icd11": "3B22" } ] }, { "batch": "2", "no": "3", "name_zh": "肢端肥大症", "name_en": "Acromegaly", "orpha": [ { "orpha": "963", "name_zh": "肢端肥大症", "name_en": "Acromegaly", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0019933", "omim": "102200;300943", "icd10": "E22.0", "icd11": "5A60.0" } ] }, { "batch": "2", "no": "4", "name_zh": "成人斯蒂尔病", "name_en": "Adult-onset Still disease", "orpha": [ { "orpha": "829", "name_zh": "成人Still病", "name_en": "Adult-onset Still disease", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0019355", "omim": "", "icd10": "M06.1", "icd11": "FA23" } ] }, { "batch": "2", "no": "5", "name_zh": "Alagille综合征", "name_en": "Alagille syndrome", "orpha": [ { "orpha": "52", "name_zh": "Alagille综合征", "name_en": "Alagille syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0007318", "omim": "118450", "icd10": "Q44.7", "icd11": "LB20.0Y" } ] }, { "batch": "2", "no": "6", "name_zh": "α-１-抗胰蛋白酶缺乏症", "name_en": "Alpha-1-antitrypsin deficiency", "orpha": [ { "orpha": "60", "name_zh": "α-1-抗胰蛋白酶缺乏症", "name_en": "Alpha-1-antitrypsin deficiency", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0013282", "omim": "613490", "icd10": "E88.0", "icd11": "5C5A" } ] }, { "batch": "2", "no": "7", "name_zh": "ANCA相关性血管炎", "name_en": "ANCA-associated vasculitis", "orpha": [ { "orpha": "156152", "name_zh": "抗中性粒细胞胞浆抗体血管炎", "name_en": "Anti-neutrophil cytoplasmic antibody-associated vasculitis", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0015492;15492", "omim": "", "icd10": "", "icd11": "4A44.A" } ] }, { "batch": "2", "no": "8", "name_zh": "Bardet-Biedl 综合征", "name_en": "Bardet-Biedl syndrome", "orpha": [ { "orpha": "110", "name_zh": "Bardet-Biedl综合征", "name_en": "Bardet-Biedl syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0015229", "omim": "209900;600151;605231;615981;615982;615983;615984;615985;615986;615987;615988;615989;615990;615991;615992;615993;615994;615995;615996;617119;617406;619471", "icd10": "Q87.8", "icd11": "5A61.0" } ] }, { "batch": "2", "no": "9", "name_zh": "白塞病/贝赫切特综合征", "name_en": "Behçet's disease", "orpha": [ { "orpha": "117", "name_zh": "白塞病", "name_en": "Behçet disease", "scope": "Disorder", "method": "curated", "note": "白塞病 [high]", "mondo": "0007191", "omim": "109650", "icd10": "M35.2", "icd11": "4A62" } ] }, { "batch": "2", "no": "10", "name_zh": "蓝色橡皮疱样痣", "name_en": "Blue rubber bleb nevus", "orpha": [ { "orpha": "1059", "name_zh": "蓝色橡皮疱样痣", "name_en": "Blue rubber bleb nevus syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0007203", "omim": "112200", "icd10": "Q27.8", "icd11": "LC51" } ] }, { "batch": "2", "no": "11", "name_zh": "CDKL5缺乏症", "name_en": "CDKL5-deficiency disorder", "orpha": [ { "orpha": "505652", "name_zh": "CDKL5基因相关的癫痫脑病", "name_en": "CDKL5-deficiency disorder", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0010396", "omim": "300672", "icd10": "G40.4", "icd11": "" } ] }, { "batch": "2", "no": "12", "name_zh": "无脉络膜症", "name_en": "Choroideremia", "orpha": [ { "orpha": "180", "name_zh": "无脉络膜症", "name_en": "Choroideremia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0010557", "omim": "303100", "icd10": "H31.2", "icd11": "9B61" } ] }, { "batch": "2", "no": "13", "name_zh": "慢性炎性脱髓鞘性多发性神经根神经病", "name_en": "Chronic inflammatory demyelinating polyneuropathy", "orpha": [ { "orpha": "2932", "name_zh": "慢性炎症性脱髓鞘性多发性神经病", "name_en": "Chronic inflammatory demyelinating polyneuropathy", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0006702", "omim": "", "icd10": "G61.8", "icd11": "8C01.3" } ] }, { "batch": "2", "no": "14", "name_zh": "肾透明细胞肉瘤", "name_en": "Clear cell sarcoma of kidney", "orpha": [ { "orpha": "457246", "name_zh": "肾透明细胞肉瘤", "name_en": "Clear cell sarcoma of kidney", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0005006", "omim": "", "icd10": "C64", "icd11": "XH0765" } ] }, { "batch": "2", "no": "15", "name_zh": "冷凝集素病", "name_en": "Cold agglutinin disease", "orpha": [ { "orpha": "56425", "name_zh": "冷凝集素病", "name_en": "Cold agglutinin disease", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018922", "omim": "", "icd10": "D59.1", "icd11": "3A20.1" } ] }, { "batch": "2", "no": "16", "name_zh": "先天性胆道闭锁", "name_en": "Congenital biliary atresia", "orpha": [ { "orpha": "498345", "name_zh": "胆道闭锁及相关疾病", "name_en": "Biliary atresia and associated disorders", "scope": "Group of disorders", "method": "curated", "note": "胆道闭锁及相关疾病 组；孤立型另见 ORPHA:30391 [high]", "mondo": "", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "17", "name_zh": "先天性凝血因子VII缺乏症", "name_en": "Congenital factor VII deficiency", "orpha": [ { "orpha": "327", "name_zh": "先天性VII因子缺乏症", "name_en": "Congenital factor VII deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0009211", "omim": "227500", "icd10": "D68.2", "icd11": "3B14.Z" } ] }, { "batch": "2", "no": "18", "name_zh": "冷吡啉（冷炎素）相关周期性综合征/ NLRP3相关自身炎症性疾病", "name_en": "Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease", "orpha": [ { "orpha": "208650", "name_zh": "Cryopyrin蛋白相关的周期性综合征", "name_en": "NLRP3-associated autoinflammatory disease", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0016168;16168", "omim": "", "icd10": "", "icd11": "4A60.1" } ] }, { "batch": "2", "no": "19", "name_zh": "皮肤神经内分泌癌（梅克尔细胞癌）", "name_en": "Cutaneous neuroendocrine carcinoma(Merkel cell carcinoma)", "orpha": [ { "orpha": "79140", "name_zh": "皮肤神经内分泌癌", "name_en": "Cutaneous neuroendocrine carcinoma", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0019210", "omim": "", "icd10": "C44.3;C44.6;C44.7", "icd11": "2C34" } ] }, { "batch": "2", "no": "20", "name_zh": "皮肤T细胞淋巴瘤", "name_en": "Cutaneous T-cell lymphomas", "orpha": [ { "orpha": "171901", "name_zh": "原发性皮肤T细胞淋巴瘤", "name_en": "Primary cutaneous T-cell lymphoma", "scope": "Group of disorders", "method": "curated", "note": "原发性皮肤 T 细胞淋巴瘤 组 [high]", "mondo": "0015758;15758", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "21", "name_zh": "胱氨酸贮积症", "name_en": "Cystinosis", "orpha": [ { "orpha": "213", "name_zh": "胱氨酸贮积症", "name_en": "Cystinosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0016239", "omim": "219800;219900", "icd10": "E72.0", "icd11": "5C60.1" } ] }, { "batch": "2", "no": "22", "name_zh": "隆突性皮肤纤维肉瘤", "name_en": "Dermatofibrosarcoma protuberans", "orpha": [ { "orpha": "31112", "name_zh": "隆凸性皮肤纤维肉瘤", "name_en": "Dermatofibrosarcoma protuberans", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0011934", "omim": "607907", "icd10": "C49.9", "icd11": "2B53.Y" } ] }, { "batch": "2", "no": "23", "name_zh": "嗜酸性粒细胞性胃肠炎", "name_en": "Eosinophilic gastroenteritis", "orpha": [ { "orpha": "2070", "name_zh": "嗜酸细胞性胃肠炎", "name_en": "Eosinophilic gastroenteritis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0016129", "omim": "", "icd10": "K52.8", "icd11": "DA94.21" } ] }, { "batch": "2", "no": "24", "name_zh": "上皮样肉瘤", "name_en": "Epithelioid sarcoma", "orpha": [ { "orpha": "293202", "name_zh": "上皮样肉瘤", "name_en": "Epithelioid sarcoma", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0017387", "omim": "", "icd10": "C49.9", "icd11": "XH4F96" } ] }, { "batch": "2", "no": "25", "name_zh": "面肩肱型肌营养不良症", "name_en": "Facioscapulohumeral muscular dystrophy", "orpha": [ { "orpha": "269", "name_zh": "面肩肱型营养不良", "name_en": "Facioscapulohumeral dystrophy", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0001347", "omim": "158900;158901;600416;619477;619478", "icd10": "G71.0", "icd11": "8C70.3" } ] }, { "batch": "2", "no": "26", "name_zh": "家族性噬血细胞淋巴组织细胞增生症", "name_en": "Familial hemophagocytic lymphohistiocytosis", "orpha": [ { "orpha": "540", "name_zh": "家族性嗜血细胞性淋巴组织细胞增多症", "name_en": "Familial hemophagocytic lymphohistiocytosis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0015541;15541", "omim": "267700", "icd10": "D76.1", "icd11": "4A01.23" } ] }, { "batch": "2", "no": "27", "name_zh": "家族性腺瘤性息肉病", "name_en": "Familial adenomatous polyposis", "orpha": [ { "orpha": "733", "name_zh": "家族性腺瘤性息肉病", "name_en": "Familial adenomatous polyposis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0021055", "omim": "175100;608456;616415;617100", "icd10": "D12.6", "icd11": "2B90.Y" } ] }, { "batch": "2", "no": "28", "name_zh": "进行性骨化性纤维发育不良", "name_en": "Fibrodysplasia ossificans progressiva", "orpha": [ { "orpha": "337", "name_zh": "进行性骨化性纤维发育不全", "name_en": "Fibrodysplasia ossificans progressiva", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0007606", "omim": "135100", "icd10": "M61.1", "icd11": "FB31.1" } ] }, { "batch": "2", "no": "29", "name_zh": "脆性X综合征", "name_en": "Fragile X syndrome", "orpha": [ { "orpha": "908", "name_zh": "脆性X综合征", "name_en": "Fragile X syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0010383", "omim": "300624;311360", "icd10": "Q99.2", "icd11": "LD55" } ] }, { "batch": "2", "no": "30", "name_zh": "神经节苷脂贮积症", "name_en": "Gangliosidosis", "orpha": [ { "orpha": "309144", "name_zh": "神经节苷脂贮积症", "name_en": "Gangliosidosis", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0017719;17719", "omim": "", "icd10": "", "icd11": "5C56.00" } ] }, { "batch": "2", "no": "31", "name_zh": "胃肠胰神经内分泌肿瘤", "name_en": "Gastroenteropancreatic neuroendocrine neoplasm", "orpha": [ { "orpha": "100092", "name_zh": "胃肠胰神经内分泌肿瘤", "name_en": "Gastroenteropancreatic neuroendocrine neoplasm", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "32", "name_zh": "胃肠间质瘤", "name_en": "Gastrointestinal stromal tumor", "orpha": [ { "orpha": "44890", "name_zh": "胃肠道间质肿瘤", "name_en": "Gastrointestinal stromal tumor", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0011719", "omim": "606764", "icd10": "C26.9", "icd11": "2B5B;XH9HQ1" } ] }, { "batch": "2", "no": "33", "name_zh": "泛发性脓疱型银屑病", "name_en": "Generalized pustular psoriasis", "orpha": [ { "orpha": "247353", "name_zh": "全身性疱疹性银屑病", "name_en": "Generalized pustular psoriasis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0100491;100491", "omim": "614204;616106", "icd10": "L40.1", "icd11": "EA90.40" } ] }, { "batch": "2", "no": "34", "name_zh": "遗传性甲状旁腺功能减退症", "name_en": "Genetic hypoparathyroidism", "orpha": [ { "orpha": "208593", "name_zh": "遗传性甲状旁腺机能减退", "name_en": "Genetic hypoparathyroidism", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "16165", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "35", "name_zh": "巨细胞动脉炎", "name_en": "Giant cell arteritis", "orpha": [ { "orpha": "397", "name_zh": "巨细胞动脉周围炎", "name_en": "Giant cell arteritis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0008538", "omim": "187360", "icd10": "M31.6", "icd11": "4A44.2" } ] }, { "batch": "2", "no": "36", "name_zh": "骨巨细胞瘤", "name_en": "Giant cell tumor of bone", "orpha": [ { "orpha": "363976", "name_zh": "骨巨细胞瘤", "name_en": "Giant cell tumor of bone", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0005674", "omim": "", "icd10": "D48.0", "icd11": "2F7B;2F9B;XH0492;XH4TC2" } ] }, { "batch": "2", "no": "37", "name_zh": "血小板无力症", "name_en": "Glanzmann thrombasthenia", "orpha": [ { "orpha": "849", "name_zh": "Glanzmann血小板减少症", "name_en": "Glanzmann thrombasthenia", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0100326", "omim": "273800;619267", "icd10": "D69.1", "icd11": "3B62.0Y" } ] }, { "batch": "2", "no": "38", "name_zh": "胶质母细胞瘤", "name_en": "Glioblastoma", "orpha": [ { "orpha": "360", "name_zh": "胶质母细胞瘤", "name_en": "Glioblastoma", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018177", "omim": "137800;613029", "icd10": "C71.9", "icd11": "2A00.00" } ] }, { "batch": "2", "no": "39", "name_zh": "高林综合征", "name_en": "Gorlin syndrome", "orpha": [ { "orpha": "377", "name_zh": "Gorlin综合征", "name_en": "Gorlin syndrome", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0007187", "omim": "109400;620343", "icd10": "C44.9", "icd11": "LD2D.4" } ] }, { "batch": "2", "no": "40", "name_zh": "化脓性汗腺炎", "name_en": "Hidradenitis suppurativa", "orpha": [] }, { "batch": "2", "no": "41", "name_zh": "早老症", "name_en": "Hutchinson-Gilford progeria syndrome", "orpha": [ { "orpha": "740", "name_zh": "Hutchinson-Gilford早老症", "name_en": "Hutchinson-Gilford progeria syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0008310", "omim": "176670", "icd10": "E34.8", "icd11": "LD2B" } ] }, { "batch": "2", "no": "42", "name_zh": "炎性肌纤维母细胞瘤", "name_en": "Inflammatory myofibroblastic tumor", "orpha": [ { "orpha": "178342", "name_zh": "炎性肌纤维母细胞瘤", "name_en": "Inflammatory myofibroblastic tumor", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0015798", "omim": "", "icd10": "D48.7", "icd11": "2E92.1;2F30.Y" } ] }, { "batch": "2", "no": "43", "name_zh": "Leber先天性黑矇", "name_en": "Leber congenital amaurosis", "orpha": [ { "orpha": "65", "name_zh": "Leber先天性黑矇", "name_en": "Leber congenital amaurosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018998", "omim": "204000", "icd10": "H35.5", "icd11": "9B70" } ] }, { "batch": "2", "no": "44", "name_zh": "Lennox-Gastaut 综合征", "name_en": "Lennox-Gastaut syndrome", "orpha": [ { "orpha": "2382", "name_zh": "Lennox-Gastaut综合征", "name_en": "Lennox-Gastaut syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0016532", "omim": "615369;616346;617113;618141", "icd10": "G40.4", "icd11": "8A62.1" } ] }, { "batch": "2", "no": "45", "name_zh": "角膜缘干细胞缺乏症", "name_en": "Limbal stem cell deficiency", "orpha": [ { "orpha": "171673", "name_zh": "角膜缘干细胞缺乏", "name_en": "Limbal stem cell deficiency", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0025667", "omim": "", "icd10": "H18.7", "icd11": "9A7Y" } ] }, { "batch": "2", "no": "46", "name_zh": "恶性高热", "name_en": "Malignant hyperthermia", "orpha": [ { "orpha": "423", "name_zh": "麻醉诱发恶性高热", "name_en": "Malignant hyperthermia of anesthesia", "scope": "Disorder", "method": "curated", "note": "麻醉相关恶性高热 [high]", "mondo": "0018493", "omim": "145600", "icd10": "T88.3", "icd11": "8C78" } ] }, { "batch": "2", "no": "47", "name_zh": "恶性胸膜间皮瘤", "name_en": "Malignant pleural mesothelioma", "orpha": [ { "orpha": "50251", "name_zh": "胸膜间皮瘤", "name_en": "Pleural mesothelioma", "scope": "Disorder", "method": "curated", "note": "胸膜间皮瘤 [high]", "mondo": "0006292", "omim": "156240", "icd10": "C45.0", "icd11": "2C26.0" } ] }, { "batch": "2", "no": "48", "name_zh": "黑色素瘤", "name_en": "Melanoma", "orpha": [] }, { "batch": "2", "no": "49", "name_zh": "异染性脑白质营养不良", "name_en": "Metachromatic leukodystrophy", "orpha": [ { "orpha": "512", "name_zh": "异染性脑白质营养不良", "name_en": "Metachromatic leukodystrophy", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018868", "omim": "250100", "icd10": "E75.2", "icd11": "5C56.02" } ] }, { "batch": "2", "no": "50", "name_zh": "单基因非综合征性肥胖", "name_en": "Monogenic non-syndromic obesity", "orpha": [ { "orpha": "98267", "name_zh": "遗传性非综合征型肥胖", "name_en": "Genetic non-syndromic obesity", "scope": "Disorder", "method": "curated", "note": "遗传性非综合征型肥胖 [high]", "mondo": "0020075", "omim": "", "icd10": "E66.8", "icd11": "5B81.Y" } ] }, { "batch": "2", "no": "51", "name_zh": "多发性内分泌腺瘤病", "name_en": "Multiple endocrine neoplasia", "orpha": [ { "orpha": "276161", "name_zh": "多发性内分泌肿瘤", "name_en": "Multiple endocrine neoplasia", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0017169;17169", "omim": "", "icd10": "D44.8", "icd11": "2F7A.Y" } ] }, { "batch": "2", "no": "52", "name_zh": "发作性睡病", "name_en": "Narcolepsy", "orpha": [ { "orpha": "619284", "name_zh": "", "name_en": "Narcolepsy", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0021107", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "53", "name_zh": "神经母细胞瘤", "name_en": "Neuroblastoma", "orpha": [ { "orpha": "635", "name_zh": "神经母细胞瘤", "name_en": "Neuroblastoma", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0005072", "omim": "256700;613013;613014;613015;613016;613017;616792", "icd10": "C74.9", "icd11": "XH85Z0" } ] }, { "batch": "2", "no": "54", "name_zh": "神经纤维瘤病", "name_en": "Neurofibromatosis", "orpha": [ { "orpha": "634518", "name_zh": "", "name_en": "Neurofibromatosis/schwannomatosis", "scope": "Group of disorders", "method": "curated", "note": "神经纤维瘤病 / 神经鞘瘤病 组 [high]", "mondo": "0859008", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "55", "name_zh": "神经元蜡样脂褐质沉积症", "name_en": "Neuronal ceroid lipofuscinosis", "orpha": [ { "orpha": "216", "name_zh": "神经元蜡样质脂褐质沉积病", "name_en": "Neuronal ceroid lipofuscinosis", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "0016295;16295", "omim": "", "icd10": "E75.4", "icd11": "5C56.1" } ] }, { "batch": "2", "no": "56", "name_zh": "神经营养性角膜炎", "name_en": "Neurotrophic keratitis", "orpha": [ { "orpha": "137596", "name_zh": "神经营养性角膜病变", "name_en": "Neurotrophic keratopathy", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0015290", "omim": "", "icd10": "H16.2", "icd11": "1F00.10" } ] }, { "batch": "2", "no": "57", "name_zh": "骨肉瘤", "name_en": "Osteosarcoma", "orpha": [ { "orpha": "668", "name_zh": "骨肉瘤", "name_en": "Osteosarcoma", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0002629", "omim": "259500", "icd10": "C41.9", "icd11": "2B51" }, { "orpha": "223727", "name_zh": "骨肉瘤", "name_en": "Bone sarcoma", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0021054", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "58", "name_zh": "天疱疮", "name_en": "Pemphigus", "orpha": [ { "orpha": "704", "name_zh": "寻常型天疱疮", "name_en": "Pemphigus vulgaris", "scope": "Disorder", "method": "curated", "note": "Orphanet 无「天疱疮」总概念；取寻常型与落叶型两大主型 [medium]", "mondo": "0008219", "omim": "169610", "icd10": "L10.0", "icd11": "EB40.0" }, { "orpha": "79481", "name_zh": "落叶型天疱疮", "name_en": "Pemphigus foliaceus", "scope": "Disorder", "method": "curated", "note": "Orphanet 无「天疱疮」总概念；取寻常型与落叶型两大主型 [medium]", "mondo": "0019324", "omim": "", "icd10": "L10.2", "icd11": "EB40.1" } ] }, { "batch": "2", "no": "59", "name_zh": "新生儿持续肺动脉高压", "name_en": "Persistent pulmonary hypertension of the newborn", "orpha": [] }, { "batch": "2", "no": "60", "name_zh": "嗜铬细胞瘤", "name_en": "Pheochromocytoma", "orpha": [ { "orpha": "573163", "name_zh": "嗜铬细胞瘤-副神经节瘤", "name_en": "Pheochromocytoma-paraganglioma", "scope": "Group of disorders", "method": "curated", "note": "嗜铬细胞瘤-副神经节瘤 组 [high]", "mondo": "0035540", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "61", "name_zh": "PIK3CA相关过度生长综合征", "name_en": "PIK3CA related overgrowth syndrome", "orpha": [ { "orpha": "530313", "name_zh": "PIK3CA基因相关生长过度综合征", "name_en": "PIK3CA-related overgrowth spectrum disorder", "scope": "Group of disorders", "method": "auto_exact_en", "note": "", "mondo": "", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "62", "name_zh": "真性红细胞增多症", "name_en": "Polycythaemia vera", "orpha": [ { "orpha": "729", "name_zh": "真性红细胞增多症", "name_en": "Polycythemia vera", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009891;9891", "omim": "263300", "icd10": "D45", "icd11": "2A20.4" } ] }, { "batch": "2", "no": "63", "name_zh": "原发性胆汁性胆管炎", "name_en": "Primary biliary cholangitis", "orpha": [ { "orpha": "186", "name_zh": "原发型胆道胆管炎", "name_en": "Primary biliary cholangitis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0005388", "omim": "109720;613007;613008;614220;614221", "icd10": "K74.3", "icd11": "DB96.1" } ] }, { "batch": "2", "no": "64", "name_zh": "原发性生长激素缺乏症", "name_en": "Primary ciliary dyskinesia", "orpha": [ { "orpha": "244", "name_zh": "原发性纤毛运动障碍", "name_en": "Primary ciliary dyskinesia", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0016575", "omim": "244400", "icd10": "Q34.8", "icd11": "LA75.Y" } ] }, { "batch": "2", "no": "65", "name_zh": "原发性胰岛素样生长因子-1缺乏症", "name_en": "Primary IGF1 deficiency", "orpha": [ { "orpha": "73272", "name_zh": "胰岛素样生长因子1型缺乏所致发育迟缓", "name_en": "Growth delay due to insulin-like growth factor type 1 deficiency", "scope": "Disorder", "method": "curated", "note": "胰岛素样生长因子1型缺乏所致发育迟缓 [high]", "mondo": "0012110", "omim": "608747", "icd10": "E34.3", "icd11": "5A61.0" } ] }, { "batch": "2", "no": "66", "name_zh": "原发性免疫缺陷", "name_en": "Primary immunodeficiency", "orpha": [ { "orpha": "101997", "name_zh": "原发性免疫缺陷", "name_en": "Primary immunodeficiency", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "3778", "omim": "", "icd10": "", "icd11": "" } ] }, { "batch": "2", "no": "67", "name_zh": "原发性骨髓纤维化", "name_en": "Primary myelofibrosis", "orpha": [ { "orpha": "824", "name_zh": "原发性骨髓纤维化", "name_en": "Primary myelofibrosis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0009692", "omim": "254450", "icd10": "D47.4", "icd11": "2A20.2" } ] }, { "batch": "2", "no": "68", "name_zh": "原发性硬化性胆管炎", "name_en": "Primary sclerosing cholangitis", "orpha": [ { "orpha": "171", "name_zh": "原发性硬化性胆管炎", "name_en": "Primary sclerosing cholangitis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0013433", "omim": "613806", "icd10": "K83.0", "icd11": "DB96.2" } ] }, { "batch": "2", "no": "69", "name_zh": "进行性纤维化性间质性肺疾病", "name_en": "Progressive fibrosing interstitial lung disease", "orpha": [] }, { "batch": "2", "no": "70", "name_zh": "复发性心包炎", "name_en": "Recurrent pericarditis", "orpha": [ { "orpha": "251307", "name_zh": "特发性复发性心包炎", "name_en": "Idiopathic recurrent pericarditis", "scope": "Disorder", "method": "curated", "note": "特发性复发性心包炎 [high]", "mondo": "0016662", "omim": "", "icd10": "I09.2", "icd11": "BB2Y" } ] }, { "batch": "2", "no": "71", "name_zh": "早产儿视网膜病", "name_en": "Retinopathy of prematurity", "orpha": [ { "orpha": "90050", "name_zh": "早产儿视网膜病", "name_en": "Retinopathy of prematurity", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0006952", "omim": "133780", "icd10": "H35.1", "icd11": "9B71.3" } ] }, { "batch": "2", "no": "72", "name_zh": "Rett综合征", "name_en": "Rett syndrome", "orpha": [ { "orpha": "778", "name_zh": "Rett综合征", "name_en": "Rett syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0010726", "omim": "312750", "icd10": "F84.2", "icd11": "LD90.4" } ] }, { "batch": "2", "no": "73", "name_zh": "短肠综合征", "name_en": "Short bowel syndrome", "orpha": [ { "orpha": "104008", "name_zh": "短肠综合征", "name_en": "Short bowel syndrome", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0015183;15183", "omim": "", "icd10": "", "icd11": "DA96.04" } ] }, { "batch": "2", "no": "74", "name_zh": "全身型幼年特发性关节炎", "name_en": "Systemic juvenile idiopathic arthritis", "orpha": [ { "orpha": "85414", "name_zh": "全身型幼年特发性关节炎", "name_en": "Systemic-onset juvenile idiopathic arthritis", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0019434", "omim": "604302", "icd10": "M08.2", "icd11": "FA24.4" } ] }, { "batch": "2", "no": "75", "name_zh": "系统性肥大细胞增多症", "name_en": "Systemic mastocytosis", "orpha": [ { "orpha": "2467", "name_zh": "系统性肥大细胞增多症", "name_en": "Systemic mastocytosis", "scope": "Group of disorders", "method": "auto_exact_zh", "note": "", "mondo": "0016586;16586", "omim": "", "icd10": "C96.2", "icd11": "2A21.0" } ] }, { "batch": "2", "no": "76", "name_zh": "大动脉炎/多发性大动脉炎", "name_en": "Takayasu arteritis", "orpha": [ { "orpha": "3287", "name_zh": "Takayasu大动脉炎", "name_en": "Takayasu arteritis", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0017991", "omim": "207600", "icd10": "M31.4", "icd11": "4A44.1" } ] }, { "batch": "2", "no": "77", "name_zh": "腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎", "name_en": "Tenosynovial giant cell tumor/Pigmented villonodular synovitis", "orpha": [ { "orpha": "66627", "name_zh": "色素绒毛结节性滑膜炎", "name_en": "Tenosynovial giant cell tumor", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0024686;24686", "omim": "", "icd10": "M12.2", "icd11": "XH6911" } ] }, { "batch": "2", "no": "78", "name_zh": "地中海贫血（重型）", "name_en": "Thalassemia major", "orpha": [ { "orpha": "163596", "name_zh": "HbBart's 胎儿水肿综合征", "name_en": "Hemoglobin Bart's fetalis syndrome", "scope": "Disorder", "method": "curated", "note": "β-地中海贫血重型；α 重型（Hb Bart's 胎儿水肿）一并纳入 [medium]", "mondo": "0015579", "omim": "236750", "icd10": "D56.0", "icd11": "3A50.03" }, { "orpha": "231214", "name_zh": "β-地中海贫血重型", "name_en": "Beta-thalassemia major", "scope": "Disorder", "method": "curated", "note": "β-地中海贫血重型；α 重型（Hb Bart's 胎儿水肿）一并纳入 [medium]", "mondo": "0016486", "omim": "613985", "icd10": "D56.1", "icd11": "3A50.2" } ] }, { "batch": "2", "no": "79", "name_zh": "血栓性血小板减少性紫癜", "name_en": "Thrombotic thrombocytopenic purpura", "orpha": [ { "orpha": "54057", "name_zh": "血栓性血小板减少性紫癜", "name_en": "Thrombotic thrombocytopenic purpura", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018896", "omim": "274150", "icd10": "M31.1", "icd11": "3B64.14" } ] }, { "batch": "2", "no": "80", "name_zh": "转甲状腺素蛋白淀粉样变性", "name_en": "Transthyretin amyloidosis", "orpha": [ { "orpha": "271861", "name_zh": "遗传性ATTR淀粉样变性", "name_en": "Hereditary ATTR amyloidosis", "scope": "Disorder", "method": "curated", "note": "Orphanet 未单列野生型 ATTRwt，目录条目范围更宽 [medium]", "mondo": "0007100;7100", "omim": "105210", "icd10": "E85.1", "icd11": "5D00.20" } ] }, { "batch": "2", "no": "81", "name_zh": "肿瘤坏死因子受体相关周期性综合征", "name_en": "Tumor necrosis factor receptor associated periodic syndrome", "orpha": [ { "orpha": "32960", "name_zh": "肿瘤坏死因子受体1相关周期性发热综合征", "name_en": "Tumor necrosis factor receptor 1 associated periodic syndrome", "scope": "Disorder", "method": "curated", "note": "TNFR1 相关周期性综合征（TRAPS） [high]", "mondo": "0007727;7727", "omim": "142680", "icd10": "E85.0", "icd11": "4A60.2" } ] }, { "batch": "2", "no": "82", "name_zh": "肿瘤相关骨软化症", "name_en": "Tumor-induced osteomalacia", "orpha": [ { "orpha": "352540", "name_zh": "致癌性骨软化症", "name_en": "Oncogenic osteomalacia", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0018124", "omim": "", "icd10": "M83.8", "icd11": "FB80.Y" } ] }, { "batch": "2", "no": "83", "name_zh": "Von Hippel-Lindau综合征", "name_en": "Von Hippel-Lindau syndrome", "orpha": [ { "orpha": "892", "name_zh": "Von Hippel-Lindau病", "name_en": "Von Hippel-Lindau disease", "scope": "Disorder", "method": "auto_exact_en", "note": "", "mondo": "0008667", "omim": "193300", "icd10": "Q85.8", "icd11": "5A75" } ] }, { "batch": "2", "no": "84", "name_zh": "血管性血友病Ⅲ型", "name_en": "Von Willebrand disease type3", "orpha": [ { "orpha": "166096", "name_zh": "血管性血友病3型", "name_en": "Von Willebrand disease type 3", "scope": "Subtype of disorder", "method": "curated", "note": "血管性血友病 3 型 [high]", "mondo": "0010191", "omim": "277480", "icd10": "D68.0", "icd11": "3B12" } ] }, { "batch": "2", "no": "85", "name_zh": "华氏巨球蛋白血症/淋巴浆细胞淋巴瘤", "name_en": "Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma", "orpha": [ { "orpha": "33226", "name_zh": "华氏巨球蛋白血症", "name_en": "Waldenström macroglobulinemia", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0100280;100280", "omim": "153600", "icd10": "C88.0", "icd11": "2A85.4" } ] }, { "batch": "2", "no": "86", "name_zh": "West综合征/婴儿痉挛综合征", "name_en": "West syndrome/Infantile spasms syndrome", "orpha": [ { "orpha": "3451", "name_zh": "West综合征", "name_en": "West syndrome", "scope": "Disorder", "method": "auto_exact_zh", "note": "", "mondo": "0018097", "omim": "", "icd10": "", "icd11": "8A62.0" } ] } ]