batch no cn_name_zh cn_name_en orpha orpha_name_zh orpha_name_en scope match_method note mondo omim icd10 icd11 gard 1 1 21-羟化酶缺乏症 21-Hydroxylase Deficiency 90794 21-羟化酶所致经典性先天性肾上腺皮质增生症 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Disorder curated Orphanet 仅收经典型；目录条目还含非经典型 [high] 0008728 201910 E25.0 5A71.01 12665 1 2 白化病 Albinism 98706 眼皮肤或眼白化病 Oculocutaneous or ocular albinism Group of disorders curated 取最贴近的上位组「眼皮肤或眼白化病」 [high] E70.3 1 3 Alport 综合征 Alport Syndrome 63 Alport综合征 Alport syndrome Disorder auto_exact_zh 0018965 104200;203780;301050 Q87.8 LD2H.Y 5785 1 4 肌萎缩侧索硬化 Amyotrophic Lateral Sclerosis 803 肌萎缩侧索硬化 Amyotrophic lateral sclerosis Disorder auto_exact_zh 0004976 105400 G12.2 8B60.0 5786 1 5 Angelman 氏症候群（天使综合征） Angelman Syndrome 72 天使综合征 Angelman syndrome Disorder auto_exact_zh 0007113 105830 Q93.5 LD90.0 5810 1 6 精氨酸酶缺乏症 Arginase Deficiency 90 精氨酸血症 Argininemia Disorder auto_exact_zh 0008814 207800 E72.2 5C50.A2 5840 1 7 热纳综合征（窒息性胸腔失养症） Asphyxiating Thoracic Dystrophy (Jeune Syndrome) 474 热纳综合征 Jeune syndrome Disorder auto_exact_zh 0018770 208500;611263;613091;613819;614376;615630;615633;616300;617088;619479 Q77.2 LD24.B1 3049 1 8 非典型溶血性尿毒症 Atypical Hemolytic Uremic Syndrome 2134 非典型溶血尿毒综合征 Atypical hemolytic uremic syndrome Disorder auto_exact_en 0016244 235400;609814;612922;612923;612924;612925;612926;615008 D59.3 3A10.Y 8702 1 9 自身免疫性脑炎 Autoimmune Encephalitis 622014 Autoimmune encephalitis Group of disorders auto_exact_en 0020640 11979 1 10 自身免疫性垂体炎 Autoimmune Hypophysitis 95506 原发性垂体炎 Primary hypophysitis Group of disorders auto_exact_zh 0019835 1 11 自身免疫性胰岛素受体病 Autoimmune Insulin Receptopathy (Type B insulin resistance) 2298 胰岛素抵抗综合征B型 Insulin-resistance syndrome type B Disorder curated B 型胰岛素抵抗综合征 [high] 0016464 E34.8 5A44 3009 1 12 β-酮硫解酶缺乏症 Beta-ketothiolase Deficiency 134 β-酮硫解酶缺乏 Beta-ketothiolase deficiency Disorder auto_exact_en 0008760 203750 E71.1 5C50.DY 872 1 13 生物素酶缺乏症 Biotinidase Deficiency 79241 生物素酶缺陷症 Biotinidase deficiency Disorder auto_exact_en 0009665 253260 E53.8 5C50.E0 894 1 15 原发性肉碱缺乏症 Carnitine Deficiency 158 系统性原发性肉碱缺乏症 Systemic primary carnitine deficiency Disorder curated 系统性原发性肉碱缺乏症（SLC22A5） [high] 0008919 212140 E71.3 5C52.00 5104 1 16 Castleman病 Castleman Disease 160 Castleman病 Castleman disease Disorder auto_exact_zh 0015564 148000 D47.7 4B2Y 12656 1 17 腓骨肌萎缩症 Charcot-Marie-Tooth Disease 166 腓骨肌萎缩症/遗传性运动感觉性神经病 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy Group of disorders curated CMT / 遗传性运动感觉神经病 组 [high] 15626 8C20 6034 1 18 瓜氨酸血症 Citrullinemia 187 瓜氨酸血症 Citrullinemia Group of disorders auto_exact_zh 0015991;15991 5C50.A3 1 19 先天性肾上腺发育不良 Congenital Adrenal Hypoplasia 595337 Adrenal hypoplasia congenita Group of disorders auto_exact_en 1 20 先天性高胰岛素性低血糖血症 Congenital Hyperinsulinemic Hypoglycemia 657 先天性孤立型高胰岛素血症 Congenital isolated hyperinsulinism Group of disorders curated 先天性孤立型高胰岛素血症 [high] 0019010;19010 3947 1 21 先天性肌无力综合征 Congenital Myasthenic Syndrome 590 先天性肌无力综合征 Congenital myasthenic syndrome Disorder auto_exact_zh 0018940 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 G70.2 8C61 11902 1 22 先天性肌强直（非营养不良性肌强直综合征） Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) 614 先天性肌强直 Thomsen and Becker disease Disorder auto_exact_zh 0009710 160800;255700 G71.1 8C71.2 12301 1 22 先天性肌强直（非营养不良性肌强直综合征） Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) 206973 先天性肌强直 Congenital myotonia Group of disorders auto_exact_zh 16121 1 25 先天性纯红细胞再生障碍性贫血 Diamond-Blackfan Anemia 124 Diamond-Blackfan贫血 Diamond-Blackfan anemia Disorder auto_exact_en 0015253 105650 D61.0 3A60.1 6274 1 26 Erdheim-Chester病 Erdheim-Chester Disease 35687 Erdheim-Chester病 Erdheim-Chester disease Disorder auto_exact_zh 0018153 D76.3 XH1VJ3 6369 1 27 法布雷病 Fabry Disease 324 法布里病 Fabry disease Disorder auto_exact_en 0010526 301500 E75.2 5C56.01 6400 1 28 家族性地中海热 Familial Mediterranean Fever 342 家族性地中海热 Familial Mediterranean fever Disorder auto_exact_zh 0018088 249100 E85.0 4A60.0 6421 1 29 范可尼贫血 Fanconi Anemia 84 范科尼贫血 Fanconi anemia Disorder auto_exact_en 0019391 227650 D61.0 3A70.0 6425 1 30 半乳糖血症 Galactosemia 352 半乳糖血症 Galactosemia Group of disorders auto_exact_zh 0018116;18116 5C51.4Y 2424 1 31 戈谢病 Gaucher’s Disease 355 戈谢病 Gaucher disease Disorder auto_exact_zh 0018150 230800;230900;231000;231005;608013;610539 E75.2 5C56.0Y 8233 1 32 全身型重症肌无力 Generalized Myasthenia Gravis 589 重症肌无力 Myasthenia gravis Disorder curated Orphanet 未按全身型/眼肌型细分 [high] 0009688 254200 G70.0 8C60 7122 1 33 Gitelman 综合征 Gitelman Syndrome 358 Gitelman综合征 Gitelman syndrome Disorder auto_exact_zh 0009904 263800 N15.8 5C64.41 8547 1 34 戊二酸血症I型 Glutaric Acidemia Type I 25 戊二酰-辅酶A脱氢酶缺乏 Glutaryl-CoA dehydrogenase deficiency Disorder curated 戊二酰辅酶A脱氢酶缺乏 = 戊二酸血症 I 型 [high] 0009281 231670 E72.3 5C50.E1 6522 1 35 糖原累积病（I型、Ⅱ型） Glycogen Storage Disease (Type I、II） 79201 糖原贮积症 Glycogen storage disease Group of disorders auto_exact_en 0002412;2412 E74.0 5C51.3 1 36 血友病 Hemophilia 448 血友病 Hemophilia Group of disorders auto_exact_zh 0018660;18660 10418 1 37 肝豆状核变性 Hepatolenticular Degeneration(Wilson Disease) 905 肝豆状核变性 Wilson disease Disorder auto_exact_zh 0010200 277900 E83.0 5C64.00 7893 1 38 遗传性血管性水肿 Hereditary Angioedema (HAE) 91378 遗传性血管性水肿 Hereditary angioedema Group of disorders auto_exact_zh 0019623 106100;610618;619360;619361;619363;619366;619367 4A00.14 5979 1 39 遗传性大疱性表皮松解症 Hereditary Epidermolysis Bullosa 79361 遗传性大疱性表皮松解症 Inherited epidermolysis bullosa Group of disorders auto_exact_zh 0019276;19276 1 40 遗传性果糖不耐受症 Hereditary Fructose Intolerance 469 遗传性果糖不耐受症 Hereditary fructose intolerance Disorder auto_exact_zh 0009249 229600 E74.1 5C51.50 6622 1 42 遗传性多发脑梗死性痴呆 Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL) 136 常染色体显性大脑动脉病-皮质下梗死-脑白质病 CADASIL Disorder auto_exact_en 0000914 125310 I67.8 8B22.C0 1049 1 43 遗传性痉挛性截瘫 Hereditary Spastic Paraplegia 685 遗传性痉挛性截瘫 Hereditary spastic paraplegia Group of disorders auto_exact_zh 0019064;19064 G11.4 8B44.0 6637 1 44 全羧化酶合成酶缺乏症 Holocarboxylase Synthetase Deficiency 79242 羧化酶合酶缺陷症 Holocarboxylase synthetase deficiency Disorder auto_exact_en 0009666 253270 E53.8 5C50.E0 2721 1 45 同型半胱氨酸血症 Homocysteinemia 622 同型半胱氨酸血症不伴甲基丙二酸尿症 Homocystinuria without methylmalonic aciduria Disorder curated 同型半胱氨酸血症（不伴甲基丙二酸尿症） [medium] 0018964 236270;250940;277410 E72.1 5C50.B 1 46 纯合子家族性高胆固醇血症 Homozygous Hypercholesterolemia 391665 纯合家族性高胆固醇血症 Homozygous familial hypercholesterolemia Disorder curated 纯合子型家族性高胆固醇血症 [high] 0018328 143890;144010;602247;603776;603813 E78.0 5C80.00 10416 1 47 亨廷顿舞蹈病 Huntington Disease 399 亨廷顿舞蹈病 Huntington disease Disorder auto_exact_zh 0007739 143100 G10 8A01.10 6677 1 48 HHH综合征 Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome 415 高鸟氨酸血症-高氨血症-高瓜氨酸尿综合征 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Disorder curated HHH 综合征 [high] 0009393 238970 E72.4 5C50.AY 2830 1 49 高苯丙氨酸血症 Hyperphenylalaninemia 708881 Phenylalanine hydroxylase deficiency Group of disorders curated 苯丙氨酸羟化酶缺乏 组；BH4 型另见目录 113 [high] 261600 1 50 低碱性磷酸酶血症 Hypophosphatasia 436 低磷酸酯酶症 Hypophosphatasia Disorder auto_exact_en 0018570 146300;241500;241510 E83.3 5C64.3 6734 1 51 低磷性佝偻病 Hypophosphatemic Rickets 437 低磷性佝偻病 Hypophosphatemic rickets Group of disorders auto_exact_zh 0000044;44 5C63.22 6735 1 53 特发性低促性腺激素性性腺功能减退症 Idiopathic Hypogonadotropic Hypogonadism 174590 先天性低促性腺激素性性腺功能减退症 Congenital hypogonadotropic hypogonadism Group of disorders curated Orphanet 用「先天性」，目录用「特发性」，同一概念 [high] 0015770;15770 1 54 特发性肺动脉高压 Idiopathic Pulmonary Arterial Hypertension 275766 特发性肺动脉高压 Idiopathic pulmonary arterial hypertension Subtype of disorder auto_exact_zh 0017147;17147;1999 I27.0 BB01.0 1 55 特发性肺纤维化 Idiopathic Pulmonary Fibrosis 2032 特发性肺纤维化 Idiopathic pulmonary fibrosis Disorder auto_exact_zh 800504 178500 J84.1 CB03.4 8609 1 56 IgG4相关性疾病 IgG4 related Disease 284264 IgG4相关疾病 IgG4-related disease Group of disorders auto_exact_en 17287 4A43.0 12521 1 57 先天性胆汁酸合成障碍 Inborn Errors of Bile Acid Synthesis 485631 先天性胆汁酸合成缺陷 Congenital bile acid synthesis defect Group of disorders curated 先天性胆汁酸合成障碍 组 [high] 0018841;18841 1 58 异戊酸血症 Isovaleric Acidemia 33 异戊酸血症 Isovaleric acidemia Disorder auto_exact_zh 0009475 243500 E71.1 5C50.E0 465 1 59 卡尔曼综合征 Kallmann Syndrome 478 Kallmann综合征 Kallmann syndrome Subtype of disorder auto_exact_en 0018800 147950;244200;308700;610628;612370;612702;614837;614838;614840;614858;614880;614897;615266;615267;615269;615270;615271;616030;618841 E23.0 5A61.2 10771 1 60 朗格汉斯组织细胞增生症 Langerhans Cell Histiocytosis 389 朗格罕细胞组织细胞增生症 Langerhans cell histiocytosis Disorder auto_exact_en 0018310 604856 C96.0;C96.5;C96.6 2B31.2 6858 1 61 莱伦氏综合征 Laron Syndrome 633 Laron综合征 Laron syndrome Disorder auto_exact_en 0009877 262500 E34.3 5A61.0 6859 1 62 Leber遗传性视神经病变 Leber Hereditary Optic Neuropathy 104 Leber遗传性视神经病 Leber hereditary optic neuropathy Disorder auto_exact_en 0010788 535000 H47.2 8C73.Y 6870 1 63 长链3-羟酰基辅酶A脱氢酶缺乏症 Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 5 长链3-羟基乙酰基-CoA脱氢酶缺乏 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Disorder auto_exact_en 0012173 609016 E71.3 5C52.01 6867 1 64 淋巴管肌瘤病 Lymphangioleiomyomatosis (LAM) 538 淋巴管肌瘤病 Lymphangioleiomyomatosis Disorder auto_exact_zh 0006277 606690 D48.7 CB07 3319 1 65 赖氨酸尿蛋白不耐受症 Lysinuric Protein Intolerance 470 赖氨酸尿性蛋白耐受不良 Lysinuric protein intolerance Disorder auto_exact_en 0009109 222700 E72.0 5C60.Y 3335 1 66 溶酶体酸性脂肪酶缺乏症 Lysosomal Acid Lipase Deficiency 275761 溶酶体酸性脂肪酶缺乏症 Lysosomal acid lipase deficiency Disorder auto_exact_zh 800449 278000 E75.5 5C56.0Y 12097 1 67 枫糖尿症 Maple Syrup Urine Disease 511 枫糖尿病 Maple syrup urine disease Disorder auto_exact_en 0009563 248600;615135;620698;620699 E71.0 5C50.D0 3228 1 68 马凡综合征 Marfan Syndrome 558 马方综合征 Marfan syndrome Disorder auto_exact_en 0007947 154700;610168 Q87.4 LD28.01 1 69 McCune-Albrigh综合征 McCune-Albright Syndrome 562 McCune-Albright综合征 McCune-Albright syndrome Disorder auto_exact_en 0018919 174800 Q78.1 FB80.0 6995 1 70 中链酰基辅酶A脱氢酶缺乏症 Medium Chain Acyl-CoA Dehydrogenase Deficiency 42 中链酰基辅酶A脱氢酶缺乏 Medium chain acyl-CoA dehydrogenase deficiency Disorder auto_exact_en 0008721 201450 E71.3 5C52.01 540 1 71 甲基丙二酸血症 Methylmalonic Academia 26 甲基丙二酸血症伴高胱氨酸尿症 Methylmalonic acidemia with homocystinuria Disorder curated 不伴 / 伴同型半胱氨酸尿症两支合起来覆盖目录条目 [high] 0016826 277380;277400;277410;614857 E71.1 5C50.E0 3579 1 71 甲基丙二酸血症 Methylmalonic Academia 293355 不伴同型半胱氨酸尿症的甲基丙二酸血症 Methylmalonic acidemia without homocystinuria Group of disorders curated 不伴 / 伴同型半胱氨酸尿症两支合起来覆盖目录条目 [high] 17390 1 73 黏多糖贮积症 Mucopolysaccharidosis 79213 粘多糖贮积症 Mucopolysaccharidosis Group of disorders auto_exact_en 0019249;19249 5C56.3 7065 1 74 多灶性运动神经病 Multifocal Motor Neuropathy 641 多灶性运动神经病 Multifocal motor neuropathy Disorder auto_exact_zh 0018979 G61.8 8C01.3 11011 1 75 多种酰基辅酶A脱氢酶缺乏症 Multiple Acyl-CoA Dehydrogenase Deficiency 26791 多种酰基辅酶A脱氢酶缺乏症 Multiple acyl-CoA dehydrogenase deficiency Disorder auto_exact_zh 0009282 231680 E71.3 5C52.01 6523 1 76 多发性硬化 Multiple Sclerosis 802 多发性硬化 NON RARE IN EUROPE: Multiple sclerosis Disorder curated 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] G35 1 77 多系统萎缩 Multiple System Atrophy 102 多系统萎缩 Multiple system atrophy Disorder auto_exact_zh 0007803 146500 G23.2;G23.3 8D87.0 7079 1 78 肌强直性营养不良 Myotonic Dystrophy 206647 强直性营养不良 Myotonic dystrophy Group of disorders auto_exact_en 0016107;16107 G71.1 8C71.0 10419 1 79 N-乙酰谷氨酸合成酶缺乏症 N-acetylglutamate Synthase Deficiency 927 N-乙酰谷氨酸合成酶缺乏所致高氨血症 Hyperammonemia due to N-acetylglutamate synthase deficiency Disorder curated NAGS 缺乏所致高氨血症 [high] 0009377 237310 E72.2 5C50.AY 7158 1 80 新生儿糖尿病 Neonatal Diabetes Mellitus 224 新生儿糖尿病 Neonatal diabetes mellitus Group of disorders auto_exact_zh 0016391;16391 P70.2 KB60.2 1 81 视神经脊髓炎 Neuromyelitis Optica 71211 视神经脊髓炎 Neuromyelitis optica spectrum disorder Disorder auto_exact_zh 0019100;19100 G36.0 8A43 6267 1 82 尼曼匹克病 Niemann-Pick Disease 646 Niemann-Pick病C型 Niemann-Pick disease type C Disorder curated 尼曼匹克病 A/B/C/D 四支 [high] 0018982 257220 E75.2 5C56.0Y 7207 1 82 尼曼匹克病 Niemann-Pick Disease 77292 尼曼-匹克病A型 Infantile neurovisceral acid sphingomyelinase deficiency Disorder curated 尼曼匹克病 A/B/C/D 四支 [high] 0009756 257200 E75.2 5C56.0Y 7206 1 82 尼曼匹克病 Niemann-Pick Disease 77293 尼曼-匹克病B型 Chronic visceral acid sphingomyelinase deficiency Disorder curated 尼曼匹克病 A/B/C/D 四支 [high] 0011871 607616 E75.2 5C56.0Y 10729 1 82 尼曼匹克病 Niemann-Pick Disease 79289 尼曼-匹克病D型 Niemann-Pick disease type D Disorder curated 尼曼匹克病 A/B/C/D 四支 [high] 1 83 非综合征性耳聋 Non-Syndromic Deafness 87884 非综合征型遗传性耳聋 Rare non-syndromic genetic deafness Disorder curated 罕见非综合征性遗传性耳聋 [high] 0019497 H90.5 AB50 1 84 Noonan综合征 Noonan Syndrome 648 Noonan综合征 Noonan syndrome Disorder auto_exact_zh 0018997 163950 Q87.1 LD2F.15 10955 1 85 鸟氨酸氨甲酰基转移酶缺乏症 Ornithine Transcarbamylase Deficiency 664 鸟氨酸氨甲酰转移酶缺乏症 Ornithine transcarbamylase deficiency Disorder auto_exact_en 0010703 311250 E72.4 5C50.AY 8391 1 86 成骨不全症（脆骨病） Osteogenesis Imperfecta (Brittle Bone Disease) 666 成骨不全 Osteogenesis imperfecta Disorder auto_exact_en 0019019 166200;166210;166220;166230;259420;259440;301014;610682;610915;610967;610968;613848;613849;613982;614856;615066;615220;616229;616507;619131;619795 Q78.0 LD24.K0 1017 1 87 帕金森病（青年型、早发型） Parkinson Disease (Young-onset , Early-onset) 2828 青年发病型帕金森病 Young-onset Parkinson disease Disorder curated Orphanet 无「早发型」单列条目 [medium] 0017279 300557;600116;602404;605909;606324;606852;610297;613643;615528;616840 G20 8A00.00 1 88 阵发性睡眠性血红蛋白尿 Paroxysmal Nocturnal Hemoglobinuria 447 阵发性睡眠性血红蛋白尿症 Paroxysmal nocturnal hemoglobinuria Disorder auto_exact_en 0100244 300818 D59.5 3A21.0 7337 1 89 黑斑息肉综合征 Peutz-Jeghers Syndrome 2869 Peutz-Jeghers综合征 Peutz-Jeghers syndrome Disorder auto_exact_en 0008280 175200 Q85.8 LD2D.0 7378 1 90 苯丙酮尿症 Phenylketonuria 716 苯丙酮尿症 Phenylketonuria Disorder auto_exact_zh 0009861 261600 E70.0;E70.1 5C50.0 7383 1 91 POEMS综合征 POEMS Syndrome 2905 POEMS综合征 POEMS syndrome Disorder auto_exact_zh 0017364 D47.2 2A83.Y 7411 1 92 卟啉病 Porphyria 738 卟啉病 Porphyria Group of disorders auto_exact_zh 19142 E80.1;E80.2 5C58.1 10353 1 93 Prader-Willi综合征 Prader-Willi Syndrome 739 Prader-Willi综合征 Prader-Willi syndrome Disorder auto_exact_zh 0008300 176270 Q87.1 LD90.3 5575 1 94 原发性联合免疫缺陷 Primary Combined Immune Deficiency 183660 重症联合免疫缺陷 Severe combined immunodeficiency Group of disorders curated 目录条目范围宽于 SCID，故并入非重症联合免疫缺陷 [medium] 0015974;15974 4A01.10 7628 1 94 原发性联合免疫缺陷 Primary Combined Immune Deficiency 480549 非严重联合免疫缺陷 Non-severe combined immunodeficiency Group of disorders curated 目录条目范围宽于 SCID，故并入非重症联合免疫缺陷 [medium] 18814 1 95 原发性遗传性肌张力不全 Primary Hereditary Dystonia 156159 孤立性肌张力障碍 Isolated dystonia Group of disorders curated 孤立性肌张力障碍 = 原发性肌张力障碍的现代命名 [high] 0015494;15494 1 96 原发性轻链型淀粉样变 Primary Light Chain Amyloidosis 85443 AL型淀粉样变性 AL amyloidosis Disorder curated AL 型淀粉样变性 [high] 0019438 254500 E85.4;E85.9 5D00.0 5797 1 97 进行性家族性肝内胆汁淤积症 Progressive Familial Intrahepatic Cholestasis 172 进行性家族性肝内胆汁淤积症 Progressive familial intrahepatic cholestasis Disorder auto_exact_zh 0015762 211600;601847;602347;615878;617049;619484;619662;619849;619868;620010 K76.8 5C58.03 1 98 进行性肌营养不良 Progressive Muscular Dystrophy 206644 进行性肌营养不良症 Progressive muscular dystrophy Group of disorders auto_exact_en 0016106;16106 1 99 丙酸血症 Propionic Acidemia 35 丙酸血症 Propionic acidemia Disorder auto_exact_zh 0011628 606054 E71.1 5C50.E0 467 1 100 肺泡蛋白沉积症 Pulmonary Alveolar Proteinosis 747 自身免疫性肺泡蛋白沉积症 Autoimmune pulmonary alveolar proteinosis Disorder curated 自身免疫性 / 遗传性 / 继发性三型 [high] 0012579 610910 J84.0 CB04.31 7499 1 100 肺泡蛋白沉积症 Pulmonary Alveolar Proteinosis 264675 遗传性肺泡蛋白沉积症 Hereditary pulmonary alveolar proteinosis Disorder curated 自身免疫性 / 遗传性 / 继发性三型 [high] 0012580 300770;614370 J84.0 CB04.31 4582 1 100 肺泡蛋白沉积症 Pulmonary Alveolar Proteinosis 420259 继发性肺泡蛋白沉着症 Secondary pulmonary alveolar proteinosis Disorder curated 自身免疫性 / 遗传性 / 继发性三型 [high] 0018483 J84.0 CB04.31 1 101 肺囊性纤维化 Pulmonary Cystic Fibrosis 586 囊性纤维化 Cystic fibrosis Disorder curated 囊性纤维化（目录名冠以「肺」，实为同一病） [high] 0009061 219700 E84 CA25 6233 1 102 视网膜色素变性 Retinitis Pigmentosa 791 色素性视网膜炎 Retinitis pigmentosa Disorder auto_exact_en 0019200 268000 H35.5 9B70 5694 1 103 视网膜母细胞瘤 Retinoblastoma 790 视网膜母细胞瘤 Retinoblastoma Disorder auto_exact_zh 0008380 180200 C69.2 2D02.2 7563 1 104 重症先天性粒细胞缺乏症 Severe Congenital Neutropenia 42738 重型先天性中性白细胞减少症 Severe congenital neutropenia Group of disorders auto_exact_en 0018542;18542 13592 1 105 婴儿严重肌阵挛性癫痫(Dravet综合征) Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) 33069 Dravet综合征 Dravet syndrome Disorder auto_exact_zh 0011794 607208 G40.4 8A61.11 10430 1 106 镰刀型细胞贫血病 Sickle Cell Disease 275752 镰状细胞病及相关疾病 Sickle cell disease Group of disorders auto_exact_en 17146 D57.0 1 107 Silver-Russell综合征 Silver-Russell Syndrome 813 Silver-Russell综合征 Silver-Russell syndrome Disorder auto_exact_zh 0008394 180860 Q87.1 LD2F.1Y 4870 1 108 谷固醇血症 Sitosterolemia 2882 谷固醇血症 Sitosterolemia Disorder auto_exact_zh 0008863 210250 E78.0 5C52.1Y 7653 1 109 脊髓延髓肌萎缩症（肯尼迪病） Spinal and Bulbar Muscular Atrophy (Kennedy Disease) 481 肯尼迪病 Kennedy disease Disorder auto_exact_zh 0010735 313200 G12.2 8B61.4 6818 1 110 脊髓性肌萎缩症 Spinal Muscular Atrophy 70 近端脊髓性肌萎缩 Proximal spinal muscular atrophy Disorder curated 近端脊髓性肌萎缩（5q-SMA） [high] 0019079 253300;253400;253550;271150 G12.0;G12.1 8B61.Y 4531 1 111 脊髓小脑性共济失调 Spinocerebellar Ataxia 99 常染色体显性遗传小脑型共济失调 Autosomal dominant cerebellar ataxia Group of disorders curated Orphanet 无 SCA 总概念；取常染色体显性遗传小脑共济失调 [medium] 0020380 8A03.1Y 4346 1 112 系统性硬化症 Systemic Sclerosis 90291 系统性硬化症 Systemic sclerosis Disorder auto_exact_zh 0005100 181750 M34.0;M34.1;M34.2;M34.8;M34.9 4A42 9748 1 113 四氢生物蝶呤缺乏症 Tetrahydrobiopterin Deficiency 238583 四氢生物蝶呤缺乏性高苯丙氨酸血症 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Disorder curated 四氢生物蝶呤缺乏所致高苯丙氨酸血症 [high] 0016543 233910;261630;261640;264070 E70.1 5C59.01 7751 1 114 结节性硬化症 Tuberous Sclerosis Complex 805 复合型结节性硬化病 Tuberous sclerosis complex Disorder auto_exact_en 0001734 191100;613254 Q85.1 LD2D.2 7830 1 115 原发性酪氨酸血症 Tyrosinemia 882 酪氨酸血症1型 Tyrosinemia type 1 Disorder curated 酪氨酸血症 1/2/3 型 [high] 0010161 276700 E70.2 5C50.11 2658 1 115 原发性酪氨酸血症 Tyrosinemia 28378 酪氨酸血症II型 Tyrosinemia type 2 Disorder curated 酪氨酸血症 1/2/3 型 [high] 0010160 276600 E70.2 5C50.12 3105 1 115 原发性酪氨酸血症 Tyrosinemia 69723 酪氨酸血症3型 Tyrosinemia type 3 Disorder curated 酪氨酸血症 1/2/3 型 [high] 0010162 276710 E70.2 5C50.1Y 10332 1 116 极长链酰基辅酶A脱氢酶缺乏症 Very Long Chain Acyl-CoA Dehydrogenase Deficiency 26793 极长链酰基辅酶A脱氢酶缺乏症 Very long chain acyl-CoA dehydrogenase deficiency Disorder auto_exact_zh 0008723 201475 E71.3 5C52.01 5508 1 117 威廉姆斯综合征 Williams Syndrome 904 威廉斯综合征 Williams syndrome Disorder auto_exact_en 0008678 194050 Q93.8 LD44.70 7891 1 118 湿疹血小板减少伴免疫缺陷综合征 Wiskott-Aldrich Syndrome 906 Wiskott-Aldrich综合征 Wiskott-Aldrich syndrome Disorder auto_exact_en 0010518 301000 D82.0 3B62.0Y 7895 1 119 X-连锁无丙种球蛋白血症 X-linked Agammaglobulinemia 47 X连锁无丙种球蛋白血症 X-linked agammaglobulinemia Subtype of disorder auto_exact_zh 0010421 300755 D80.0 4A01.00 1033 1 120 X-连锁肾上腺脑白质营养不良 X-linked Adrenoleukodystrophy 43 X连锁肾上腺脑白质营养不良 X-linked adrenoleukodystrophy Disorder auto_exact_zh 300100 E71.3 5C57.1 5758 1 121 X-连锁淋巴增生症 X-linked Lymphoproliferative Disease 2442 X连锁淋巴增殖性疾病 X-linked lymphoproliferative disease Group of disorders auto_exact_en 0010627;10627 300635;308240 4A01.22 10915 2 1 软骨发育不全 Achondroplasia 15 软骨发育不全 Achondroplasia Disorder auto_exact_zh 0007037 100800 Q77.4 LD24.00 8173 2 2 获得性血友病 Acquired hemophilia 599480 Acquired hemophilia A Disorder curated 获得性血友病 A / B [high] 0035735 D68.4 3B22 6405 2 2 获得性血友病 Acquired hemophilia 599485 Acquired hemophilia B Disorder curated 获得性血友病 A / B [high] 0035736 D68.4 3B22 2 3 肢端肥大症 Acromegaly 963 肢端肥大症 Acromegaly Disorder auto_exact_zh 0019933 102200;300943 E22.0 5A60.0 5725 2 4 成人斯蒂尔病 Adult-onset Still disease 829 成人Still病 Adult-onset Still disease Disorder auto_exact_en 0019355 M06.1 FA23 436 2 5 Alagille综合征 Alagille syndrome 52 Alagille综合征 Alagille syndrome Disorder auto_exact_zh 0007318 118450 Q44.7 LB20.0Y 804 2 6 α-１-抗胰蛋白酶缺乏症 Alpha-1-antitrypsin deficiency 60 α-1-抗胰蛋白酶缺乏症 Alpha-1-antitrypsin deficiency Disorder auto_exact_zh 0013282 613490 E88.0 5C5A 5784 2 7 ANCA相关性血管炎 ANCA-associated vasculitis 156152 抗中性粒细胞胞浆抗体血管炎 Anti-neutrophil cytoplasmic antibody-associated vasculitis Group of disorders auto_exact_en 0015492;15492 4A44.A 13011 2 8 Bardet-Biedl 综合征 Bardet-Biedl syndrome 110 Bardet-Biedl综合征 Bardet-Biedl syndrome Disorder auto_exact_zh 0015229 209900;600151;605231;615981;615982;615983;615984;615985;615986;615987;615988;615989;615990;615991;615992;615993;615994;615995;615996;617119;617406;619471 Q87.8 5A61.0 6866 2 9 白塞病/贝赫切特综合征 Behçet's disease 117 白塞病 Behçet disease Disorder curated 白塞病 [high] 0007191 109650 M35.2 4A62 848 2 10 蓝色橡皮疱样痣 Blue rubber bleb nevus 1059 蓝色橡皮疱样痣 Blue rubber bleb nevus syndrome Disorder auto_exact_zh 0007203 112200 Q27.8 LC51 5940 2 11 CDKL5缺乏症 CDKL5-deficiency disorder 505652 CDKL5基因相关的癫痫脑病 CDKL5-deficiency disorder Disorder auto_exact_en 0010396 300672 G40.4 12173 2 12 无脉络膜症 Choroideremia 180 无脉络膜症 Choroideremia Disorder auto_exact_zh 0010557 303100 H31.2 9B61 6061 2 13 慢性炎性脱髓鞘性多发性神经根神经病 Chronic inflammatory demyelinating polyneuropathy 2932 慢性炎症性脱髓鞘性多发性神经病 Chronic inflammatory demyelinating polyneuropathy Disorder auto_exact_en 0006702 G61.8 8C01.3 6102 2 14 肾透明细胞肉瘤 Clear cell sarcoma of kidney 457246 肾透明细胞肉瘤 Clear cell sarcoma of kidney Disorder auto_exact_zh 0005006 C64 XH0765 2 15 冷凝集素病 Cold agglutinin disease 56425 冷凝集素病 Cold agglutinin disease Disorder auto_exact_zh 0018922 D59.1 3A20.1 6130 2 16 先天性胆道闭锁 Congenital biliary atresia 498345 胆道闭锁及相关疾病 Biliary atresia and associated disorders Group of disorders curated 胆道闭锁及相关疾病 组；孤立型另见 ORPHA:30391 [high] 2 17 先天性凝血因子VII缺乏症 Congenital factor VII deficiency 327 先天性VII因子缺乏症 Congenital factor VII deficiency Disorder auto_exact_en 0009211 227500 D68.2 3B14.Z 2238 2 18 冷吡啉（冷炎素）相关周期性综合征/ NLRP3相关自身炎症性疾病 Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease 208650 Cryopyrin蛋白相关的周期性综合征 NLRP3-associated autoinflammatory disease Group of disorders auto_exact_en 0016168;16168 4A60.1 10927 2 19 皮肤神经内分泌癌（梅克尔细胞癌） Cutaneous neuroendocrine carcinoma(Merkel cell carcinoma) 79140 皮肤神经内分泌癌 Cutaneous neuroendocrine carcinoma Disorder auto_exact_zh 0019210 C44.3;C44.6;C44.7 2C34 9266 2 20 皮肤T细胞淋巴瘤 Cutaneous T-cell lymphomas 171901 原发性皮肤T细胞淋巴瘤 Primary cutaneous T-cell lymphoma Group of disorders curated 原发性皮肤 T 细胞淋巴瘤 组 [high] 0015758;15758 6226 2 21 胱氨酸贮积症 Cystinosis 213 胱氨酸贮积症 Cystinosis Disorder auto_exact_zh 0016239 219800;219900 E72.0 5C60.1 6236 2 22 隆突性皮肤纤维肉瘤 Dermatofibrosarcoma protuberans 31112 隆凸性皮肤纤维肉瘤 Dermatofibrosarcoma protuberans Disorder auto_exact_en 0011934 607907 C49.9 2B53.Y 9569 2 23 嗜酸性粒细胞性胃肠炎 Eosinophilic gastroenteritis 2070 嗜酸细胞性胃肠炎 Eosinophilic gastroenteritis Disorder auto_exact_en 0016129 K52.8 DA94.21 9142 2 24 上皮样肉瘤 Epithelioid sarcoma 293202 上皮样肉瘤 Epithelioid sarcoma Disorder auto_exact_zh 0017387 C49.9 XH4F96 10181 2 25 面肩肱型肌营养不良症 Facioscapulohumeral muscular dystrophy 269 面肩肱型营养不良 Facioscapulohumeral dystrophy Disorder auto_exact_en 0001347 158900;158901;600416;619477;619478 G71.0 8C70.3 9941 2 26 家族性噬血细胞淋巴组织细胞增生症 Familial hemophagocytic lymphohistiocytosis 540 家族性嗜血细胞性淋巴组织细胞增多症 Familial hemophagocytic lymphohistiocytosis Disorder auto_exact_en 0015541;15541 267700 D76.1 4A01.23 6589 2 27 家族性腺瘤性息肉病 Familial adenomatous polyposis 733 家族性腺瘤性息肉病 Familial adenomatous polyposis Disorder auto_exact_zh 0021055 175100;608456;616415;617100 D12.6 2B90.Y 6408 2 28 进行性骨化性纤维发育不良 Fibrodysplasia ossificans progressiva 337 进行性骨化性纤维发育不全 Fibrodysplasia ossificans progressiva Disorder auto_exact_en 0007606 135100 M61.1 FB31.1 6445 2 29 脆性X综合征 Fragile X syndrome 908 脆性X综合征 Fragile X syndrome Disorder auto_exact_zh 0010383 300624;311360 Q99.2 LD55 6464 2 30 神经节苷脂贮积症 Gangliosidosis 309144 神经节苷脂贮积症 Gangliosidosis Group of disorders auto_exact_zh 0017719;17719 5C56.00 12510 2 31 胃肠胰神经内分泌肿瘤 Gastroenteropancreatic neuroendocrine neoplasm 100092 胃肠胰神经内分泌肿瘤 Gastroenteropancreatic neuroendocrine neoplasm Group of disorders auto_exact_zh 2437 2 32 胃肠间质瘤 Gastrointestinal stromal tumor 44890 胃肠道间质肿瘤 Gastrointestinal stromal tumor Disorder auto_exact_en 0011719 606764 C26.9 2B5B;XH9HQ1 8598 2 33 泛发性脓疱型银屑病 Generalized pustular psoriasis 247353 全身性疱疹性银屑病 Generalized pustular psoriasis Disorder auto_exact_en 0100491;100491 614204;616106 L40.1 EA90.40 12819 2 34 遗传性甲状旁腺功能减退症 Genetic hypoparathyroidism 208593 遗传性甲状旁腺机能减退 Genetic hypoparathyroidism Group of disorders auto_exact_en 16165 2 35 巨细胞动脉炎 Giant cell arteritis 397 巨细胞动脉周围炎 Giant cell arteritis Disorder auto_exact_en 0008538 187360 M31.6 4A44.2 9615 2 36 骨巨细胞瘤 Giant cell tumor of bone 363976 骨巨细胞瘤 Giant cell tumor of bone Disorder auto_exact_zh 0005674 D48.0 2F7B;2F9B;XH0492;XH4TC2 13046 2 37 血小板无力症 Glanzmann thrombasthenia 849 Glanzmann血小板减少症 Glanzmann thrombasthenia Disorder auto_exact_en 0100326 273800;619267 D69.1 3B62.0Y 2478 2 38 胶质母细胞瘤 Glioblastoma 360 胶质母细胞瘤 Glioblastoma Disorder auto_exact_zh 0018177 137800;613029 C71.9 2A00.00 2491 2 39 高林综合征 Gorlin syndrome 377 Gorlin综合征 Gorlin syndrome Disorder auto_exact_en 0007187 109400;620343 C44.9 LD2D.4 7166 2 41 早老症 Hutchinson-Gilford progeria syndrome 740 Hutchinson-Gilford早老症 Hutchinson-Gilford progeria syndrome Disorder auto_exact_zh 0008310 176670 E34.8 LD2B 7467 2 42 炎性肌纤维母细胞瘤 Inflammatory myofibroblastic tumor 178342 炎性肌纤维母细胞瘤 Inflammatory myofibroblastic tumor Disorder auto_exact_zh 0015798 D48.7 2E92.1;2F30.Y 7146 2 43 Leber先天性黑矇 Leber congenital amaurosis 65 Leber先天性黑矇 Leber congenital amaurosis Disorder auto_exact_zh 0018998 204000 H35.5 9B70 634 2 44 Lennox-Gastaut 综合征 Lennox-Gastaut syndrome 2382 Lennox-Gastaut综合征 Lennox-Gastaut syndrome Disorder auto_exact_zh 0016532 615369;616346;617113;618141 G40.4 8A62.1 9912 2 45 角膜缘干细胞缺乏症 Limbal stem cell deficiency 171673 角膜缘干细胞缺乏 Limbal stem cell deficiency Disorder auto_exact_en 0025667 H18.7 9A7Y 2 46 恶性高热 Malignant hyperthermia 423 麻醉诱发恶性高热 Malignant hyperthermia of anesthesia Disorder curated 麻醉相关恶性高热 [high] 0018493 145600 T88.3 8C78 6964 2 47 恶性胸膜间皮瘤 Malignant pleural mesothelioma 50251 胸膜间皮瘤 Pleural mesothelioma Disorder curated 胸膜间皮瘤 [high] 0006292 156240 C45.0 2C26.0 7026 2 49 异染性脑白质营养不良 Metachromatic leukodystrophy 512 异染性脑白质营养不良 Metachromatic leukodystrophy Disorder auto_exact_zh 0018868 250100 E75.2 5C56.02 3230 2 50 单基因非综合征性肥胖 Monogenic non-syndromic obesity 98267 遗传性非综合征型肥胖 Genetic non-syndromic obesity Disorder curated 遗传性非综合征型肥胖 [high] 0020075 E66.8 5B81.Y 2 51 多发性内分泌腺瘤病 Multiple endocrine neoplasia 276161 多发性内分泌肿瘤 Multiple endocrine neoplasia Group of disorders auto_exact_en 0017169;17169 D44.8 2F7A.Y 2 52 发作性睡病 Narcolepsy 619284 Narcolepsy Group of disorders auto_exact_en 0021107 2 53 神经母细胞瘤 Neuroblastoma 635 神经母细胞瘤 Neuroblastoma Disorder auto_exact_zh 0005072 256700;613013;613014;613015;613016;613017;616792 C74.9 XH85Z0 7185 2 54 神经纤维瘤病 Neurofibromatosis 634518 Neurofibromatosis/schwannomatosis Group of disorders curated 神经纤维瘤病 / 神经鞘瘤病 组 [high] 0859008 2 55 神经元蜡样脂褐质沉积症 Neuronal ceroid lipofuscinosis 216 神经元蜡样质脂褐质沉积病 Neuronal ceroid lipofuscinosis Group of disorders auto_exact_en 0016295;16295 E75.4 5C56.1 10739 2 56 神经营养性角膜炎 Neurotrophic keratitis 137596 神经营养性角膜病变 Neurotrophic keratopathy Disorder auto_exact_zh 0015290 H16.2 1F00.10 2 57 骨肉瘤 Osteosarcoma 668 骨肉瘤 Osteosarcoma Disorder auto_exact_zh 0002629 259500 C41.9 2B51 7284 2 57 骨肉瘤 Osteosarcoma 223727 骨肉瘤 Bone sarcoma Group of disorders auto_exact_zh 0021054 2 58 天疱疮 Pemphigus 704 寻常型天疱疮 Pemphigus vulgaris Disorder curated Orphanet 无「天疱疮」总概念；取寻常型与落叶型两大主型 [medium] 0008219 169610 L10.0 EB40.0 4270 2 58 天疱疮 Pemphigus 79481 落叶型天疱疮 Pemphigus foliaceus Disorder curated Orphanet 无「天疱疮」总概念；取寻常型与落叶型两大主型 [medium] 0019324 L10.2 EB40.1 7354 2 60 嗜铬细胞瘤 Pheochromocytoma 573163 嗜铬细胞瘤-副神经节瘤 Pheochromocytoma-paraganglioma Group of disorders curated 嗜铬细胞瘤-副神经节瘤 组 [high] 0035540 2 61 PIK3CA相关过度生长综合征 PIK3CA related overgrowth syndrome 530313 PIK3CA基因相关生长过度综合征 PIK3CA-related overgrowth spectrum disorder Group of disorders auto_exact_en 2 62 真性红细胞增多症 Polycythaemia vera 729 真性红细胞增多症 Polycythemia vera Disorder auto_exact_zh 0009891;9891 263300 D45 2A20.4 7422 2 63 原发性胆汁性胆管炎 Primary biliary cholangitis 186 原发型胆道胆管炎 Primary biliary cholangitis Disorder auto_exact_en 0005388 109720;613007;613008;614220;614221 K74.3 DB96.1 7459 2 64 原发性生长激素缺乏症 Primary ciliary dyskinesia 244 原发性纤毛运动障碍 Primary ciliary dyskinesia Disorder auto_exact_en 0016575 244400 Q34.8 LA75.Y 4484 2 65 原发性胰岛素样生长因子-1缺乏症 Primary IGF1 deficiency 73272 胰岛素样生长因子1型缺乏所致发育迟缓 Growth delay due to insulin-like growth factor type 1 deficiency Disorder curated 胰岛素样生长因子1型缺乏所致发育迟缓 [high] 0012110 608747 E34.3 5A61.0 10627 2 66 原发性免疫缺陷 Primary immunodeficiency 101997 原发性免疫缺陷 Primary immunodeficiency Group of disorders auto_exact_zh 3778 2 67 原发性骨髓纤维化 Primary myelofibrosis 824 原发性骨髓纤维化 Primary myelofibrosis Disorder auto_exact_zh 0009692 254450 D47.4 2A20.2 8618 2 68 原发性硬化性胆管炎 Primary sclerosing cholangitis 171 原发性硬化性胆管炎 Primary sclerosing cholangitis Disorder auto_exact_zh 0013433 613806 K83.0 DB96.2 1280 2 70 复发性心包炎 Recurrent pericarditis 251307 特发性复发性心包炎 Idiopathic recurrent pericarditis Disorder curated 特发性复发性心包炎 [high] 0016662 I09.2 BB2Y 2 71 早产儿视网膜病 Retinopathy of prematurity 90050 早产儿视网膜病 Retinopathy of prematurity Disorder auto_exact_zh 0006952 133780 H35.1 9B71.3 5695 2 72 Rett综合征 Rett syndrome 778 Rett综合征 Rett syndrome Disorder auto_exact_zh 0010726 312750 F84.2 LD90.4 5696 2 73 短肠综合征 Short bowel syndrome 104008 短肠综合征 Short bowel syndrome Group of disorders auto_exact_zh 0015183;15183 DA96.04 1502 2 74 全身型幼年特发性关节炎 Systemic juvenile idiopathic arthritis 85414 全身型幼年特发性关节炎 Systemic-onset juvenile idiopathic arthritis Disorder auto_exact_zh 0019434 604302 M08.2 FA24.4 10966 2 75 系统性肥大细胞增多症 Systemic mastocytosis 2467 系统性肥大细胞增多症 Systemic mastocytosis Group of disorders auto_exact_zh 0016586;16586 C96.2 2A21.0 8616 2 76 大动脉炎/多发性大动脉炎 Takayasu arteritis 3287 Takayasu大动脉炎 Takayasu arteritis Disorder auto_exact_en 0017991 207600 M31.4 4A44.1 7730 2 77 腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎 Tenosynovial giant cell tumor/Pigmented villonodular synovitis 66627 色素绒毛结节性滑膜炎 Tenosynovial giant cell tumor Disorder auto_exact_zh 0024686;24686 M12.2 XH6911 7396 2 78 地中海贫血（重型） Thalassemia major 163596 HbBart's 胎儿水肿综合征 Hemoglobin Bart's fetalis syndrome Disorder curated β-地中海贫血重型；α 重型（Hb Bart's 胎儿水肿）一并纳入 [medium] 0015579 236750 D56.0 3A50.03 2 78 地中海贫血（重型） Thalassemia major 231214 β-地中海贫血重型 Beta-thalassemia major Disorder curated β-地中海贫血重型；α 重型（Hb Bart's 胎儿水肿）一并纳入 [medium] 0016486 613985 D56.1 3A50.2 2 79 血栓性血小板减少性紫癜 Thrombotic thrombocytopenic purpura 54057 血栓性血小板减少性紫癜 Thrombotic thrombocytopenic purpura Disorder auto_exact_zh 0018896 274150 M31.1 3B64.14 2 80 转甲状腺素蛋白淀粉样变性 Transthyretin amyloidosis 271861 遗传性ATTR淀粉样变性 Hereditary ATTR amyloidosis Disorder curated Orphanet 未单列野生型 ATTRwt，目录条目范围更宽 [medium] 0007100;7100 105210 E85.1 5D00.20 2 81 肿瘤坏死因子受体相关周期性综合征 Tumor necrosis factor receptor associated periodic syndrome 32960 肿瘤坏死因子受体1相关周期性发热综合征 Tumor necrosis factor receptor 1 associated periodic syndrome Disorder curated TNFR1 相关周期性综合征（TRAPS） [high] 0007727;7727 142680 E85.0 4A60.2 8457 2 82 肿瘤相关骨软化症 Tumor-induced osteomalacia 352540 致癌性骨软化症 Oncogenic osteomalacia Disorder auto_exact_en 0018124 M83.8 FB80.Y 9652 2 83 Von Hippel-Lindau综合征 Von Hippel-Lindau syndrome 892 Von Hippel-Lindau病 Von Hippel-Lindau disease Disorder auto_exact_en 0008667 193300 Q85.8 5A75 7855 2 84 血管性血友病Ⅲ型 Von Willebrand disease type3 166096 血管性血友病3型 Von Willebrand disease type 3 Subtype of disorder curated 血管性血友病 3 型 [high] 0010191 277480 D68.0 3B12 2 85 华氏巨球蛋白血症/淋巴浆细胞淋巴瘤 Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma 33226 华氏巨球蛋白血症 Waldenström macroglobulinemia Disorder auto_exact_zh 0100280;100280 153600 C88.0 2A85.4 7872 2 86 West综合征/婴儿痉挛综合征 West syndrome/Infantile spasms syndrome 3451 West综合征 West syndrome Disorder auto_exact_zh 0018097 8A62.0 7887