{"lang":"zh","d":[[5,"长链3-羟基乙酰基-CoA脱氢酶缺乏",["长链3-羟基乙酰基-CoA脱氢酶缺乏"]],[6,"3-甲基巴豆酰辅酶a羧化酶缺乏症",["甲基巴豆酰甘氨酸尿症"]],[7,"3C综合征",["颅脑小脑心血管发育不全"]],[8,"47，XYY综合征",["重复Y综合征"]],[9,"X染色体四倍体",["48,XXXX综合征"]],[10,"48，XXYY综合征"],[11,"X染色体五倍体",["49,XXXXX综合征"]],[13,"6-丙酮酰-四氢蝶呤合成酶缺乏症",["6-丙酮酰四氢蝶呤合成酶缺乏致高苯丙氨酸血症"]],[14,"无β脂蛋白血症",["纯合子性家族性β-脂蛋白过少血症"]],[15,"软骨发育不全"],[16,"蓝色锥体性全色盲",["色盲，蓝色锥体性全色盲型"]],[17,"致死性婴儿乳酸性酸中毒伴甲基丙二酸尿症"],[18,"远端肾小管性酸中毒",["家族性远端原发性酸中毒"]],[19,"2-羟基谷氨酸尿症",["2-羟谷氨酸血症"]],[20,"3-羟基-3甲基戊二酸尿症",["3-羟基-3-甲基戊二酸单酰辅酶A裂合酶缺陷"]],[22,"琥珀酸半醛脱氢酶缺乏症",["γ-羟丁酸尿症"]],[23,"精氨基琥珀酸尿",["精氨基琥珀酸裂合酶缺乏症"]],[24,"富马酸尿症",["延胡索酸酶缺乏症"]],[25,"戊二酰-辅酶A脱氢酶缺乏",["戊二酰脱氢酶辅酶A缺乏"]],[26,"甲基丙二酸血症伴高胱氨酸尿症",["腺苷钴胺素和甲基钴胺素合成联合缺陷"]],[27,"维生素B12无反应性甲基丙二酸血症",["维生素B12无反应性甲基丙二酸尿症"]],[28,"维生素B12反应性甲基丙二酸血症",["维生素B12反应性甲基丙二酸尿症"]],[29,"甲羟戊酸尿症",["完全性甲羟戊酸激酶缺乏症"]],[30,"遗传性乳清酸尿症",["尿苷一磷酸合成酶缺乏症"]],[31,"酮戊二酸尿症",["α酮戊二酸脱氢酶缺乏症"]],[32,"谷胱甘肽合成酶缺乏症",["焦谷氨酸尿症"]],[33,"异戊酸血症",["异戊酸辅酶A脱氢酶缺乏症"]],[34,"六氢吡啶羧酸血症",["高六氢吡啶羧酸血症"]],[35,"丙酸血症",["丙酰辅酶A羧化酶缺乏"]],[36,"肢端胼胝体综合征",["ACS"]],[37,"肠病性肢端皮炎",["肠病性肢端皮炎，缺锌型"]],[38,"肋骨肢端角化类弹力纤维病",["点状掌跖角化过度3型"]],[39,"肢端黑变病"],[40,"肢端肢中发育不良，Maroteaux型"],[41,"遗传性对称性色素异常症",["多伊肢端色素沉着"]],[42,"中链酰基辅酶A脱氢酶缺乏",["中链酰基辅酶a脱氢酶缺乏继发的肉碱缺乏"]],[43,"X连锁肾上腺脑白质营养不良",["X连锁肾上腺脑白质营养不良"]],[44,"新生儿肾上腺脑白质营养不良",["NALD"]],[45,"腺苷一磷酸脱氨酶缺乏症",["肌腺苷酸脱氨酶缺乏症"]],[46,"腺苷酸琥珀酸裂解酶缺乏症",["腺苷琥珀酸酶缺乏症"]],[47,"X连锁无丙种球蛋白血症",["Bruton型无丙种球蛋白血症"]],[48,"先天性双侧输精管缺如",["先天性双侧输精管不发育"]],[49,"阴茎发育不全",["阴茎发育不全"]],[50,"Aicardi综合征",["胼胝体发育不良伴脉络膜视网膜畸形"]],[51,"Aicardi-GoutiÞres综合征",["脑病伴颅内钙化和脑脊液慢性淋巴细胞增多"]],[52,"Alagille综合征",["综合征性肝胆管缺失"]],[53,"骨硬化症",["常染色体显性遗传骨硬化症2型"]],[54,"X连锁隐性眼白化病",["眼白化病，Nettleship-Falls型"]],[55,"眼皮肤白化病",["OCA"]],[56,"黑酸尿症",["尿黑酸氧化酶缺乏症"]],[57,"醛缩酶A缺乏所致糖原贮积病",["醛缩酶A缺乏所致糖原贮积病"]],[58,"亚历山大病",["AxD"]],[59,"Allan-Herndon-Dudley综合征",["X连锁智力障碍-肌张力低下综合征"]],[60,"α-1-抗胰蛋白酶缺乏症",["Alpha-1-proteinase inhibitor deficiency","Alpha1-antitrypsin deficiency"]],[61,"α-甘露糖苷贮积症",["溶酶体α-D-甘露糖苷酶缺乏症"]],[62,"α-肌糖相关性肢带型肌营养不良R3",["常染色体隐性肢带型肌营养不良2D型"]],[63,"Alport综合征",["Alport听力丧失-肾病"]],[64,"Alstr÷m 综合征"],[65,"Leber先天性黑矇",["Leber先天性黒矇"]],[67,"溶组织内阿米巴所致阿米巴病"],[68,"自由生活阿米巴所致阿米巴病"],[69,"淀粉样变性"],[70,"近端脊髓性肌萎缩",["SMA"]],[71,"乳糜微粒潴留病",["Anderson病"]],[72,"天使综合征"],[73,"骨溶解症",["进展性大块骨质溶解症"]],[74,"血管圆线虫病"],[76,"类圆线虫病",["鳗形线虫病"]],[77,"弃用：无虹膜"],[78,"钩虫病",["钩虫感染"]],[79,"先天性α2-抗纤溶酶蛋白缺乏症"],[80,"欧洲非罕见：抗磷脂综合征",["抗磷脂抗体综合征"]],[81,"抗合成酶综合征",["抗Jo1综合症"]],[82,"遗传性抗凝血酶缺乏所致遗传性易栓症",["遗传性抗凝血酶缺乏所致遗传性易栓症"]],[83,"Antley-Bixler综合征"],[84,"范科尼贫血",["范科尼全血细胞减少"]],[85,"先天性红细胞生成障碍性贫血",["CDA"]],[86,"家族性腹主动脉瘤"],[87,"Apert综合征",["尖头并指畸形1型"]],[88,"特发性再生障碍性贫血",["特发性骨髓衰竭性疾病"]],[90,"精氨酸血症",["精氨酸酶缺乏症"]],[91,"芳香化酶缺乏症",["先天性雌激素缺乏症"]],[92,"青少年特发性关节炎",["幼年型类风湿性关节炎"]],[93,"天冬氨酰葡萄糖胺尿症",["天冬氨酰葡糖胺酶缺乏症"]],[94,"星形细胞瘤",["星形细胞瘤"]],[95,"弗里德赖希共济失调",["FRDA"]],[96,"共济失调伴维生素E缺乏症",["共济失调伴维生素E缺乏症"]],[97,"家族性发作性共济失调",["发作性共济失调2型"]],[98,"Charlevoix-Saguenay常染色体隐性痉挛性共济失调",["常染色体隐性痉挛性共济失调6型"]],[99,"常染色体显性遗传小脑型共济失调",["常染色体显性遗传脊髓小脑共济失调"]],[100,"毛细血管扩张性共济失调",["Louis-Bar综合征"]],[101,"齿状核红核苍白球路易体萎缩",["齿状核红核苍白球丘脑下核萎缩"]],[102,"多系统萎缩",["多系统萎缩"]],[103,"弃用：遗传性视神经萎缩"],[104,"Leber遗传性视神经病",["leber视神经萎缩"]],[105,"尿道闭锁",["尿道闭锁"]],[106,"欧洲非罕见：自闭症"],[107,"BOR综合征",["腮-耳-肾综合征"]],[108,"巴贝虫病"],[109,"Bannayan-Riley-Ruvalcaba综合征",["Myhre-Riley-Smith综合征"]],[110,"Bardet-Biedl综合征",["BBS"]],[111,"Barth综合征",["心脏骨骼肌肌病伴中性粒细胞减少和异常线粒体"]],[112,"巴特综合征",["肾小管常压低钾性碱中毒伴高钙尿"]],[113,"Bazex-DuprÚ-Christol综合征",["毛囊性皮肤萎缩和基底细胞上皮癌"]],[114,"耳骨发育不全"],[115,"先天性挛缩型蜘蛛状指",["9型远端关节挛缩"]],[116,"Beckwith-Wiedemann综合征",["脐凸出-舌肥大-巨人症综合征"]],[117,"白塞病"],[118,"β-甘露糖苷贮积症",["β-甘露糖苷酶缺乏症"]],[119,"R4型β肌聚糖相关性肢带肌营养不良",["β-肌聚糖病缺乏所致肢带型肌营养不良症"]],[120,"欧洲非罕见：恶性贫血",["青少年起病恶性贫血"]],[122,"Birt-Hogg-DubÚ综合征",["纤维滤泡瘤伴毛盘状瘤和皮肤印记"]],[123,"Bj÷rnstad综合征",["听力丧失-眩晕-性腺功能减退综合征"]],[124,"Diamond-Blackfan贫血",["先天性再生不良性贫血，Blackfan-Diamond型"]],[125,"Bloom综合征",["B综合征"]],[126,"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征",["BPES"]],[127,"Borjeson-Forssman-Lehmann综合征",["智力障碍-癫痫-内分泌失调综合征"]],[128,"裂头绦虫病",["裂头绦虫病"]],[129,"Brocq假性斑秃"],[130,"Brugada综合征",["特发性心室颤动Brugada型"]],[131,"布-加综合征"],[132,"丁酰胆碱酯酶缺乏",["假性胆碱脂酶缺乏"]],[133,"慢性铍病",["慢性肺尘肺病"]],[134,"β-酮硫解酶缺乏",["线粒体乙酰乙酰基-辅酶A硫解酶缺乏"]],[135,"CACH综合征",["弥漫性中枢神经系统髓鞘形成减少伴儿童期共济失调"]],[136,"常染色体显性大脑动脉病-皮质下梗死-脑白质病",["遗传性多灶梗塞性痴呆"]],[137,"先天性糖基化障碍",["碳水化合物缺乏糖蛋白综合征"]],[138,"CHARGE综合征",["眼组成部分缺损-先天性心脏病-鼻后孔闭锁-生长发育迟缓-生殖器异常-耳部异常综合征"]],[139,"CHILD综合征",["先天性偏侧发育不良伴鱼鳞病样痣及肢体缺陷"]],[140,"躯干发育异常",["弯肢性侏儒"]],[141,"卡纳万病",["脑海绵状变性"]],[142,"甲状腺未分化癌"],[143,"甲状旁腺癌"],[144,"林奇综合征"],[145,"遗传性乳腺癌-卵巢癌综合征"],[146,"甲状腺分化癌",["乳头状或滤泡性甲状腺癌"]],[147,"氨甲酰磷酸合成酶Ⅰ缺乏",["氨甲酰磷酸合成酶缺乏"]],[148,"多种羧化酶缺乏症",["MCD"]],[150,"鼻咽癌",["鼻咽鳞状细胞癌"]],[151,"弃用：家族性肾细胞癌"],[154,"家族性孤立型扩张型心肌病",["家族性或特发性扩张型心肌病"]],[155,"欧洲非罕见：家族性孤立型肥厚型心肌病",["肥大性梗塞型心肌病"]],[156,"肉毒碱棕榈酰转移酶IA缺乏症",["肝肉毒碱棕榈酰转移酶I缺乏"]],[157,"肉毒碱棕榈酰转移酶II缺乏症",["肉毒碱棕榈酰转移酶缺乏症2型"]],[158,"系统性原发性肉碱缺乏症",["肉碱血浆-膜转运体缺陷"]],[159,"肉毒碱-酰肉碱移位酶缺乏症",["CACT缺乏症"]],[160,"Castleman病",["血管滤泡性淋巴增生"]],[162,"青光眼-白内障综合征"],[163,"遗传性高铁蛋白血症-白内障综合征",["遗传性高铁蛋白血症伴先天性白内障"]],[164,"欧洲非罕见：大脑海绵状畸形",["脑海绵状瘤"]],[165,"中性脂质贮积病",["脂肪沉积伴甘油三酯贮积病"]],[166,"腓骨肌萎缩症/遗传性运动感觉性神经病",["Charcot-Marie-Tooth遗传性神经病"]],[167,"ChÚdiak-Higashi综合征",["Chédiak-Higashi-Steinbrink综合征"]],[168,"生长期毛发松动综合征"],[169,"环纹发病",["环状发"]],[170,"羊毛状发",["遗传性羊毛综合症"]],[171,"原发性硬化性胆管炎",["PSC"]],[172,"进行性家族性肝内胆汁淤积症",["PFIC"]],[173,"霍乱"],[174,"干骺软骨发育异常Schmid型"],[175,"软骨－毛发发育不全",["常染色体隐性遗传干骺端软骨发育不全"]],[176,"非肢端点状软骨发育异常"],[177,"肢根型点状软骨发育不良",["RCDP"]],[178,"脊索瘤",["脊索肉瘤"]],[179,"鸟枪弹样脉络膜视网膜病变",["鸟枪弹样视网膜脉络膜病变"]],[180,"无脉络膜症",["脉络膜毯层营养不良"]],[181,"X连锁少汗性外胚层发育不良",["X连锁无汗性外胚层发育不良"]],[182,"色素性真菌病",["着色真菌病"]],[183,"嗜酸性肉芽肿性血管炎",["肉芽肿性过敏性血管炎"]],[184,"家族性巨颌症",["CRBM"]],[185,"弯刀综合征",["右肺支气管旁静脉综合征"]],[186,"原发型胆道胆管炎",["原发性胆汁性肝硬化"]],[187,"瓜氨酸血症"],[188,"系统性毛细血管渗漏综合征",["毛细血管高渗透性综合征"]],[189,"有汗型外胚层发育不良",["Clouston综合征"]],[190,"Coats病",["先天性视网膜毛细血管扩张"]],[191,"科凯恩综合征"],[192,"Coffin-Lowry综合征",["CLS"]],[193,"科恩综合征"],[194,"弃用：葡萄膜缺损"],[195,"猫眼综合征",["CES"]],[198,"枕骨角综合征",["埃勒斯-丹洛斯综合征IX型"]],[199,"德朗热综合征",["Brachmann-de Lange综合征"]],[200,"孤立型胼胝体发育不全"],[201,"Cowden综合征",["多发性错构瘤综合征"]],[202,"Crandall综合征",["脱发-感音神经性听力丧失-性腺功能减退综合征"]],[204,"散发性克雅氏病",["散发性克雅氏病"]],[205,"Crigler-Najjar综合征",["胆红素尿苷二磷酸葡糖醛酸转移酶缺乏症"]],[206,"欧洲非罕见：克罗恩病"],[207,"遗传性家族性颅面骨畸形",["Crouzon颅面骨骨发育不良"]],[209,"皮肤松弛症"],[210,"环孢子虫病"],[211,"家族性圆柱瘤病",["头巾状瘤综合征"]],[212,"半胱胺甲硫胺酸尿症",["胱硫醚γ-裂合酶缺乏综合征"]],[213,"胱氨酸贮积症",["胱氨酸转运蛋白缺陷症"]],[214,"胱氨酸尿症",["Cystinuria-lysinuria综合征"]],[215,"先天性静止性夜盲症",["先天性原发夜盲症"]],[216,"神经元蜡样质脂褐质沉积病",["NCL"]],[217,"孤立型丹迪-沃克畸形"],[218,"毛囊角化病",["毛囊角化病"]],[219,"R6型Δ肌聚糖相关性肢带肌营养不良",["δ-肌聚糖病缺乏所致肢带型肌营养不良症"]],[220,"Denys-Drash综合征",["Wilms瘤-性分化障碍综合征"]],[221,"皮肌炎",["成人皮肌炎"]],[222,"头皮糜烂性脓疱性皮病"],[223,"肾性尿崩症"],[224,"新生儿糖尿病",["NDM"]],[225,"母系遗传伴耳聋糖尿病",["母亲遗传糖尿病和听力丧失"]],[226,"二氢蝶啶还原酶缺乏症",["二氢蝶啶还原酶缺乏所致高苯丙氨酸血症"]],[227,"双阴茎畸形"],[229,"家族性主动脉夹层",["主动脉囊性中层坏死"]],[230,"多巴胺β羟化酶缺乏",["去甲肾上腺素缺乏症"]],[231,"龙线虫病",["麦地那龙线虫病"]],[232,"镰状细胞性贫血",["镰状细胞病"]],[233,"眼球后退综合征",["Stilling-Turk-Duane综合征"]],[234,"Dubin-Johnson综合征",["2型高胆红素血症"]],[235,"dubowitz综合征"],[236,"9号染色体短臂三体",["9号染色体短臂三体"]],[237,"重复尿道"],[238,"消化道重复症"],[239,"Dyggve-Melchior-Clausen综合征"],[240,"LÚri-Weill软骨发育不良",["Léri-Weill综合征"]],[241,"遗传性泛发性色素异常病"],[242,"46，XY完全性腺发育不全",["46,XY单纯性性腺发育不全"]],[243,"46,XX性腺发育不全",["卵泡刺激素不敏感性卵巢"]],[244,"原发性纤毛运动障碍",["PCD"]],[245,"纳赫尔综合征",["下颌面骨发育不全伴轴前性肢体畸形"]],[246,"轴后面骨发育不全",["颌面部发育不全伴轴后肢体异常"]],[247,"心律失常性右室发育不良",["致心律失常性右室发育不良"]],[248,"常染色体隐性遗传少汗性外胚层发育不良",["常染色体隐性遗传无汗性外胚层发育不良"]],[249,"骨纤维发育不良"],[250,"额鼻发育不良",["脸正中裂综合征"]],[251,"多发性骨骺发育不良",["骨骺发育不良"]],[252,"弃用：脊椎干骺端发育不全"],[253,"脊椎骨骺发育不良和脊椎骨骺发育不良",["SED与SEMD"]],[254,"脊椎干骺端发育不良"],[255,"多巴反应性肌张力障碍",["遗传性进行性肌张力不全伴昼夜波动"]],[256,"早发性全身性肢体肌张力障碍",["早发性全身性扭转肌张力障碍"]],[257,"单纯性大疱性表皮松解症伴肌肉萎缩",["肢带肌营养不良伴单纯大疱性表皮松解症"]],[258,"层粘连蛋白α2亚基相关性先天性肌营养不良症",["层粘连蛋白α2亚基缺乏所致先天性肌营养不良"]],[261,"Emery-Dreifuss肌营养不良",["EDMD"]],[262,"杜氏/贝氏肌营养不良",["重型抗肌萎缩蛋白病，杜氏/贝氏型"]],[263,"肢带肌营养不良",["LGMD"]],[264,"1B型常染色体显性遗传肢带肌营养不良",["LGMD1B"]],[265,"1C型常染色体显性遗传肢带肌营养不良",["LGMD1C"]],[266,"1A型常染色体显性遗传肢带肌营养不良",["肌节蛋白所致所致肢带型肌营养不良症"]],[267,"钙蛋白酶3相关肢带肌营养不良",["常染色体隐性肢带肌营养不良2A型"]],[268,"R2型Dysferlin相关肢带肌营养不良",["Dysferlin缺乏所致肢带肌营养不良"]],[269,"面肩肱型营养不良",["面肩肱肌营养不良"]],[270,"眼咽肌营养不良",["OPMD"]],[272,"福山型先天性肌营养不良症",["福山型先天性肌营养不良症"]],[273,"Steinert强直性肌营养不良",["营养不良性肌强直1型"]],[274,"巨大血小板综合征",["出血性血小板营养不良"]],[275,"DCLRE1C缺陷所致重症联合免疫缺陷",["ARTEMIS缺乏所致重症联合免疫缺陷"]],[276,"γ链缺乏所致T-B+严重联合免疫缺陷",["X连锁T-B+严重联合免疫缺陷"]],[277,"腺苷脱氨酶缺乏所致重症联合免疫缺陷病",["腺苷脱氨酶缺乏所致重症联合免疫缺陷病"]],[278,"弃用：皮质基底节变性"],[279,"欧洲非罕见：年龄相关性黄斑变性"],[280,"Wolf-Hirschhorn综合征",["4p末端缺失"]],[281,"单体型5p",["猫叫综合征"]],[282,"额颞叶痴呆",["FTD"]],[283,"蠕形螨病",["脂螨病"]],[284,"泡状棘球蚴病",["多房棘球绦虫感染"]],[285,"过度活动Ehlers-Danlos综合征",["Ehlers-Danlos综合征运动过强型"]],[286,"血管性Ehlers-Danlos综合征",["Ehlers-Danlos综合征4型"]],[287,"经典型Ehlers-Danlos综合征",["经典型EDS"]],[288,"遗传性椭圆形红细胞增多症",["HE"]],[289,"Ellis Van Creveld综合征",["软骨外胚层发育不良"]],[290,"先天性风疹综合征",["母婴传播型风疹综合征"]],[291,"先天性水痘综合征",["母婴传播型水痘综合征"]],[292,"先天性肠病毒感染",["母婴传播的肠道病毒感染"]],[293,"先天性单纯疱疹病毒感染",["母婴传播性单纯疱疹病毒感染"]],[294,"胎儿巨细胞病毒综合征",["母婴传播巨细胞病毒综合征"]],[295,"胎儿巨细小病毒综合征",["母婴传播型细小病毒综合征"]],[296,"内生软骨瘤",["软骨发育不良"]],[297,"蜱传脑炎",["TBE"]],[298,"线粒体神经胃肠型脑肌病",["MNGIE"]],[300,"双功能酶缺乏"],[301,"室管膜肿瘤"],[302,"表皮发育不良",["Lutz-Lewandowsky疣状表皮发育不良"]],[303,"营养不良大疱性表皮松解症",["营养不良性大疱性表皮松解症"]],[304,"单纯型大疱性表皮松解症",["EEB"]],[305,"交界型大疱性表皮松解症",["萎缩性大疱性表皮松解症"]],[306,"良性家族性婴幼儿癫痫",["良性家族性婴儿惊厥"]],[307,"青少年肌阵挛性癫痫",["少年肌阵挛性癫痫"]],[308,"Unverricht-Lundborg病",["进行性肌阵挛性癫痫1型"]],[309,"家族性部分性癫痫"],[310,"反射性癫痫"],[312,"常染色体显性遗传表皮松解性鱼鳞病",["Brock先天性大疱性鱼鳞病样红皮病"]],[313,"板层状鱼鳞病",["先天性板层状鳞癣"]],[314,"脱屑性红皮病",["脱屑性红皮病"]],[315,"恶性萎缩性丘疹病",["坏死性遗传性皮肤病"]],[316,"进行性对称性红斑角化病",["进行性对称性红斑角化病Gottron型"]],[317,"变异性红角皮病",["变异性红角皮病Mendes da Costa型"]],[318,"急性红白血病",["急性髓系白血病M6"]],[319,"骨骼尤文氏肉瘤",["骨性尤因肉瘤"]],[320,"显性盐皮质激素过多综合征",["11β-羟类固醇脱氢酶缺乏2型"]],[321,"多发性骨软骨瘤",["多发性软骨外生骨疣"]],[322,"膀胱外翻-尿道上裂复合畸形",["膀胱外翻-尿道上裂-泄殖腔外翻复合畸形"]],[323,"欧洲非罕见：FG综合征表型谱系"],[324,"法布里病",["α-半乳糖苷酶A缺乏症"]],[325,"先天性II因子缺乏症",["凝血酶原缺乏"]],[326,"先天性V因子缺乏症",["促凝血球蛋白原缺乏症"]],[327,"先天性VII因子缺乏症",["先天性转变加速因子缺乏症"]],[328,"先天性10因子缺乏",["先天性Stuart因子缺乏"]],[329,"先天性XI因子缺乏",["血浆促凝血酶原激酶前体缺失症"]],[330,"先天性XII因子缺乏症",["先天性Hageman因子缺乏症"]],[331,"先天性XIII因子缺乏",["纤维蛋白稳定因子缺乏"]],[332,"先天性内因子缺乏性贫血",["内因子缺乏所致遗传性青少年性巨幼细胞性贫血"]],[333,"法伯病",["酸性神经酰胺酶缺乏症"]],[334,"家族性心房颤动"],[335,"先天性纤维蛋白原缺乏症"],[336,"欧洲非罕见：动脉肌纤维发育不良"],[337,"进行性骨化性纤维发育不全",["进行性骨化性肌炎"]],[338,"家族性多发性纤维毛囊瘤"],[340,"肾综合征出血热",["汉坦病毒热"]],[341,"病毒性出血热"],[342,"家族性地中海热",["家族性阵发性多浆膜炎"]],[343,"高免疫球蛋白血症 D型伴周期性发热",["高免疫球蛋白D血症伴周期性发热"]],[344,"虫媒病毒热"],[345,"头皮切割性蜂窝组织炎"],[346,"Quinquaud脱发性毛囊炎"],[347,"Frasier综合征"],[348,"果糖-1,6-二磷酸酶缺乏症",["果糖-1,6-二磷酸酶缺乏"]],[349,"岩藻糖苷贮积病",["α-L-岩藻糖苷酶缺乏症"]],[351,"半乳糖唾液酸苷贮积症",["神经氨酸酶缺乏伴β-半乳糖苷酶缺乏"]],[352,"半乳糖血症"],[353,"R5型γ肌聚糖相关性肢带肌营养不良",["γ-肌聚糖病缺乏所致肢带型肌营养不良症"]],[354,"GM1神经节苷脂贮积症",["β-半乳糖苷酶-1缺乏症"]],[355,"戈谢病",["酸性β葡萄糖苷酶缺乏症"]],[356,"Gerstmann-Sraussler-Scheinker综合征",["亚急性海绵状脑病，Gerstmann-Straussler型"]],[357,"欧洲非罕见：吉尔伯特综合征",["高胆红素血症1型"]],[358,"Gitelman综合征",["原发性肾小管性低钾性低镁血症伴低尿钙"]],[359,"遗传性青光眼",["Hereditary glaucoma"]],[360,"胶质母细胞瘤",["多形性胶质母细胞瘤"]],[361,"家族性糖皮质激素缺乏症"],[362,"欧洲非罕见：葡萄糖-6-磷酸脱氢酶缺乏症",["葡萄糖-6-磷酸脱氢酶缺乏症"]],[364,"葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症",["葡萄糖-6-磷酸酶缺乏所致肝糖原贮积症"]],[365,"酸性麦芽糖酶缺乏所致糖原贮积病",["α-1，4-葡糖苷酶缺乏症"]],[366,"糖原脱支酶缺乏所致糖原贮积病",["糖原脱支酶缺乏所致糖原贮积病"]],[367,"糖原分支酶缺乏所致糖原贮积病",["糖原分支酶缺乏所致糖原贮积病"]],[368,"肌糖原磷酸化酶缺乏所致糖原贮积病",["肌糖原磷酸化酶缺乏所致糖原贮积病"]],[369,"肝糖原磷酸化酶缺乏所致糖原贮积病",["肝糖原磷酸化酶缺乏所致糖原贮积病"]],[370,"磷酸化酶激酶缺乏所致糖原贮积病",["磷酸化酶激酶缺乏所致糖原贮积病"]],[371,"肌磷酸果糖激酶缺乏所致糖原贮积病",["肌磷酸果糖激酶缺乏所致糖原贮积病"]],[373,"Simpson-Golabi-Behmel综合征",["X连锁发育不良巨人症综合征"]],[374,"Goldenhar综合征",["面-耳-脊椎序列征"]],[375,"抗肾小球基膜疾病",["Goodpasture综合征"]],[376,"Gordon综合征",["先天性指屈曲-腭裂-先天性畸形足综合征"]],[377,"Gorlin综合征",["痣样基底细胞癌综合征"]],[378,"欧洲非罕见：Sj÷gren综合征",["Sjögren-Gougerot 综合征"]],[379,"慢性肉芽肿病",["慢性脓毒性肉芽肿病"]],[380,"Greig头多指（趾）综合征",["GCPS"]],[381,"Griscelli综合征",["部分白化病-免疫缺陷综合征"]],[382,"乙酸胍转甲基酶缺乏症",["乙酸胍转甲基酶缺乏症"]],[383,"X连锁混合性聋伴外淋巴镫井喷",["X连锁传导性感音性混合型耳聋"]],[384,"硬化萎缩综合征",["掌跖的角化过度指硬皮病综合征"]],[385,"神经变性伴脑内铁积聚",["NBIA"]],[386,"肝脏胆囊错构瘤",["Von Meyenburg综合征"]],[387,"欧洲非罕见：化脓性汗腺炎",["Verneuil病"]],[388,"先天性巨结肠",["先天性肠神经节细胞缺失症"]],[389,"朗格罕细胞组织细胞增生症",["朗格汉斯细胞肉芽肿病"]],[390,"组织胞浆菌病",["荚膜组织胞浆菌病"]],[391,"经典霍奇金淋巴瘤",["典型霍奇金病"]],[392,"Holt-Oram综合征",["心房-手指发育不良1型"]],[393,"46, XX性发育相关睾丸疾病",["De la Chapelle综合征"]],[394,"经典型高胱氨酸尿症",["胱硫醚β-合酶缺乏所致半胱氨酸尿症"]],[395,"亚甲基四氢叶酸还原酶缺乏所致同型半胱氨酸尿症",["亚甲基四氢叶酸还原酶缺乏症"]],[396,"慢性嗝逆"],[397,"巨细胞动脉周围炎",["颞动脉炎"]],[399,"亨廷顿舞蹈病",["亨廷顿舞蹈症"]],[400,"囊型包虫病",["棘球蚴病"]],[401,"膜壳绦虫病"],[403,"家族性醛固酮增多症I型",["糖皮质激素可治性高血压"]],[404,"家族性醛固酮增多症II型",["家族性醛固酮增多症II型"]],[405,"家族性低尿钙高血钙症",["家族性良性低尿钙高血钙症"]],[406,"欧洲非罕见：杂合子型家族性高胆固醇血症",["HeFH"]],[407,"甘氨酸脑病",["非酮症高甘氨酸血症"]],[408,"孤立型甘油激酶缺乏症",["高甘油三酯血症"]],[409,"持久性豆状角化过度症",["Flegel病"]],[411,"1型高脂蛋白血症",["高脂蛋白血症1型"]],[412,"β脂蛋白异常",["残粒性血脂蛋白过多症"]],[413,"欧洲非罕见：高脂蛋白血症4型",["HLP4型"]],[414,"脉络膜视网膜环状萎缩",["高鸟氨酸血症-脉络膜视网膜环状萎缩综合征"]],[415,"高鸟氨酸血症-高氨血症-高瓜氨酸尿综合征",["鸟氨酸移位酶缺乏症"]],[416,"原发性高草酸尿症"],[417,"新生儿重症原发性甲状旁腺功能亢进",["NSHPT"]],[418,"先天性肾上腺增生",["CAH"]],[419,"1型高脯氨酸血症",["脯氨酸氧化酶缺乏"]],[422,"特发性/遗传性肺动脉高压",["特发性和/或家族性肺动脉高压"]],[423,"麻醉诱发恶性高热",["麻醉性体温过高"]],[424,"TSH受体突变所致家族性甲亢",["促甲状腺激素抵抗"]],[425,"载脂蛋白A-Ⅰ缺乏",["家族性低α脂蛋白血症"]],[426,"欧洲非罕见：家族性低β-脂蛋白血症"],[427,"家族性低醛固酮血症"],[428,"常染色体显性低钙血症",["常染色体显性低钙血症"]],[429,"软骨发育不良"],[430,"弃用：皮下蝇蛆病"],[431,"鱼鳞病-男性性腺功能减退综合征"],[432,"嗅觉正常先天性低促性腺激素性性腺功能减退症",["嗅觉正常-特发性低促性腺激素性性腺功能减退症"]],[435,"弃用：无色性色素失调症",["色素镶嵌现象Ito型"]],[436,"低磷酸酯酶症",["磷酸乙醇胺尿症"]],[437,"低磷性佝偻病"],[439,"孤立性右心室发育不全"],[440,"弃用：家族性尿道下裂"],[441,"单纯性自主神经衰竭",["特发性直立性低血压"]],[442,"先天性甲状腺功能减退症"],[444,"Marie-Unna遗传性稀毛症",["先天性少毛症Marie Unna型"]],[446,"新生儿血色病"],[447,"阵发性睡眠性血红蛋白尿症",["Marchiafava-Micheli病"]],[448,"血友病"],[449,"肝母细胞瘤"],[450,"内脏异位",["偏侧缺陷"]],[452,"X连锁无脑回畸形伴外生殖器畸形",["X-连锁无脑回畸形-胼胝体发育迟缓-生殖器异常综合征"]],[453,"IBIDS综合征",["毛发低硫营养不良伴先天性鱼鳞病"]],[454,"获得性鱼鳞病"],[455,"浅表表皮松解鱼鳞病",["Siemens大疱性鱼鳞病"]],[457,"花斑眼镜蛇样鱼鳞病",["先天性鱼鳞病Harlequin型"]],[461,"X连锁隐性遗传鱼鳞病",["类固醇硫酸酯酶缺乏症"]],[462,"欧洲非罕见：常染色体显性遗传寻常型鱼鳞病"],[463,"欧洲非罕见：肾上腺偶发瘤"],[464,"色素失调症",["Bloch-Sulzberger综合征"]],[465,"先天性纤溶酶原激活物抑制剂1型缺乏症",["先天性PAI-1型缺乏症"]],[466,"致死性家族性失眠症"],[467,"非获得性联合垂体激素缺乏症",["先天性联合垂体激素缺乏症"]],[469,"遗传性果糖不耐受症",["遗传性果糖-1-磷酸醛缩酶缺乏症"]],[470,"赖氨酸尿性蛋白耐受不良",["高双碱基氨基酸尿症"]],[472,"等孢子球虫病",["等孢子球虫病"]],[474,"热纳综合征",["新生儿窒息性胸腔营养不良"]],[475,"Joubert综合征",["小脑实质障碍症IV型"]],[477,"角膜炎-鱼鳞病-耳聋综合征",["角膜炎-鱼鳞病-听力丧失/豪猪状鱼鳞病-听力丧失综合征"]],[478,"Kallmann综合征",["先天性低促性腺激素性功能减退症伴嗅觉丧失"]],[480,"Kearns-Sayre综合征"],[481,"肯尼迪病",["X连锁脊髓延髓肌萎缩"]],[482,"木村病",["嗜酸性淋巴肉芽肿"]],[483,"先天性高分子量激肽原缺乏症"],[484,"欧洲非罕见：先天性睾丸发育不全",["47,XXY综合征"]],[485,"Kniest发育异常"],[486,"常染色体显性严重先天性中性粒细胞减少症"],[487,"Krabbe病",["半乳糖神经酰胺酶"]],[488,"脐尿管囊肿"],[489,"欧洲非罕见：甲状腺舌管囊肿",["甲状舌管囊肿"]],[490,"卵黄管囊肿"],[492,"增生性毛根鞘囊肿"],[493,"家族性角化棘皮瘤",["遗传性角化棘皮瘤"]],[494,"残毁性掌跖角皮症",["残毁性角皮症伴听力损失"]],[495,"掌跖角化病",["逾越型和进育型掌跖角化病"]],[496,"Thost-Unna综合征"],[498,"萎缩性毛发角化病"],[499,"塞耳斯脓癣"],[500,"努南综合征伴多发雀斑样痣",["家族性多发性雀斑样痣综合征"]],[501,"Lafora病",["进行性肌阵挛性癫痫2型"]],[502,"毛发-鼻-指(趾)综合征2型",["Langer-Giedion综合征"]],[503,"Larsen综合征"],[504,"匐行蝇蛆病",["迁徙性蝇蛆病"]],[505,"Graham Little-Piccardi-Lassueur综合征",["Piccardi-Lassueur-Little综合征"]],[506,"Leigh综合征",["婴儿亚急性坏死性脑病"]],[507,"利什曼病"],[508,"矮妖综合征",["Donohue综合征"]],[509,"钩端螺旋体病"],[510,"Lesch-Nyhan综合征",["次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症4级"]],[511,"枫糖尿病",["支链酮酸尿症"]],[512,"异染性脑白质营养不良",["芳香基硫酸酯酶A缺乏症"]],[513,"急性淋巴细胞性白血病",["急性淋巴细胞白血病/淋巴瘤"]],[514,"急性单核细胞白血病",["急性单核细胞白血病"]],[517,"急性粒-单核细胞白血病",["AML M4"]],[518,"急性巨核细胞白血病",["急性巨核细胞白血病"]],[519,"急性髓性白血病",["急性髓性白血病"]],[520,"急性早幼粒细胞白血病",["急性早幼粒细胞白血病伴t(15;17)(q22;q12)PML/RARalpha与变异"]],[521,"慢性髓系白血病",["慢性粒细胞白血病"]],[523,"遗传性肌瘤病及肾细胞癌综合征",["遗传性肌瘤病伴肾细胞癌"]],[524,"Li-Fraumeni综合征"],[525,"毛囊扁平苔癣",["毛发扁平苔藓"]],[526,"Liddle综合征",["假性醛固酮增多症1型"]],[528,"Berardinelli-Seip先天性脂肪营养不良",["全身性先天性脂肪营养不良"]],[529,"Roch-Leri体中部脂肪瘤样病"],[530,"类脂质蛋白沉积症",["皮肤黏膜透明变性"]],[531,"Miller-Dieker综合征",["17染色体短臂13.3缺失所致无脑回畸形"]],[533,"李斯特氏菌病",["李斯特菌感染"]],[534,"Lowe眼脑肾综合征",["磷脂酰肌醇-4，5-二磷酸-5-磷酸酶缺乏症"]],[535,"罕见皮肤红斑狼疮"],[536,"系统性红斑狼疮",["播散性红斑狼疮"]],[537,"中毒性表皮坏死松解症",["Lyell综合征"]],[538,"淋巴管肌瘤病",["LAM"]],[540,"家族性嗜血细胞性淋巴组织细胞增多症",["家族性嗜血细胞性淋巴组织细胞增多症"]],[541,"原发性皮肤CD30+T细胞淋巴组织增生异常",["原发性皮肤Ki-1+ T细胞淋巴组织增生性疾病"]],[542,"原发性皮肤淋巴瘤"],[543,"伯基特淋巴瘤",["小无裂细胞性淋巴瘤"]],[544,"弥漫性大B细胞性淋巴瘤",["DLBCL"]],[545,"滤泡型淋巴瘤"],[547,"非霍奇金淋巴瘤",["NHL"]],[548,"麻风"],[549,"军团菌病",["军团病"]],[550,"线粒体脑肌病伴乳酸血症和卒中样发作",["线粒体肌病/脑病伴乳酸血症和卒中样发作"]],[551,"肌阵挛性癫痫伴破碎红纤维综合征",["肌阵挛性癫痫伴碎红纤维"]],[552,"青少年成人起病型糖尿病",["年轻的成年发病型糖尿病"]],[553,"库欣综合征",["肾上腺皮质功能亢进"]],[555,"欧洲非罕见：乳糜泻",["谷蛋白敏感性肠病"]],[556,"软斑病"],[557,"孤立型肛门直肠畸形",["Non-syndromic ARM"]],[558,"马方综合征",["MFS"]],[559,"Marinesco-Sj÷gren综合征"],[560,"marshall综合征"],[561,"Marshall-Smith综合征",["加速期骨骼成熟-面部畸形-发育落后综合征"]],[562,"McCune-Albright综合征",["促性腺激素非依赖性女性性早熟"]],[563,"围产期心肌病",["产后心肌病"]],[564,"Meckel综合征",["Meckel-Gruber综合征"]],[565,"Menkes病",["X连锁铜缺乏症"]],[566,"先天性小瞳症",["先天性瞳孔缩小"]],[567,"22q11.2缺失综合征",["圆锥动脉干异常-面综合征"]],[568,"小眼畸形，Lenz型",["Lenz小眼畸形"]],[569,"家族性或散发性偏瘫型偏头痛"],[570,"Moebius综合征",["先天性双侧面瘫"]],[572,"MHC II表达缺陷所致免疫缺陷",["裸淋巴细胞综合征2型"]],[573,"念珠状毛发",["念珠状毛发综合征"]],[574,"21单体",["21号染色体长臂单体缺失综合征"]],[575,"Muckle-Wells综合征",["中性粒细胞性荨麻疹"]],[576,"粘脂贮积症II型",["N-乙酰葡萄糖胺-1-磷酸转移酶缺乏症"]],[577,"粘脂贮积症III型",["假性胡尔勒多种营养不良"]],[578,"粘脂贮积症IV型"],[579,"粘多糖贮积症1型",["α-L-艾杜糖醛酸酶缺乏症"]],[580,"粘多糖贮积症2型",["艾杜糖醛酸2-硫酸酯酶缺乏症"]],[581,"粘多糖贮积症3型",["粘多糖贮积症III型"]],[582,"黏多糖贮积症Ⅵ型",["黏多糖贮积症Ⅵ型"]],[583,"粘多糖贮积症6型",["N-乙酰半乳糖胺-4-硫酸酯酶缺乏症"]],[584,"粘多糖贮积症7型",["β-葡糖醛酸糖苷酶缺乏症"]],[585,"多种硫酸脂酶缺乏症",["青少年硫脂贮积病，Austin型"]],[586,"囊性纤维化",["粘液粘稠病"]],[587,"Muir-Torre综合征",["多发性角化棘皮瘤，Muir-Torre型"]],[588,"肌-眼-脑病",["Santavuori型先天性肌营养不良症"]],[589,"重症肌无力",["自身免疫性重症肌无力"]],[590,"先天性肌无力综合征",["CMS"]],[591,"疖性蝇蛆病",["疖性蝇蛆病"]],[592,"巨噬细胞肌筋膜炎",["MMF"]],[593,"肌原纤维肌病"],[595,"中央核性肌病",["CNM"]],[596,"X连锁中央核性肌病",["X连锁肌小管肌病"]],[597,"中央轴空病"],[598,"多小核肌病",["多微小轴空病"]],[599,"远端型肌病",["远端型肌营养不良症"]],[600,"声带咽远端型肌病",["远端型肌病症伴声带松弛"]],[602,"包涵体肌炎病",["遗传性包涵体肌病2型"]],[603,"Welander远端型肌营养不良症",["WDM"]],[606,"近位肌强直肌病",["近端强直性肌营养不良"]],[607,"杆状体肌病",["杆状体肌病"]],[609,"胫骨肌营养不良症",["芬兰型胫骨肌营养不良症"]],[610,"Bethlem肌病",["良性常染色体显性肌病"]],[611,"包涵体肌炎",["散发性包涵体肌炎"]],[612,"钾加重性肌强直",["钾加重性肌强直"]],[614,"先天性肌强直",["先天性肌强直"]],[615,"家族性心房粘液瘤"],[616,"髓母细胞瘤"],[617,"先天性原发性巨输尿管",["先天性原发性巨输尿管"]],[618,"家族性黑素瘤"],[619,"欧洲非罕见：原发性卵巢功能衰竭",["高促性腺激素型卵巢功能衰竭"]],[620,"背侧总肠系膜",["全肠系膜"]],[621,"遗传性高铁血红蛋白血症",["常染色体隐性高铁血红蛋白血症"]],[622,"同型半胱氨酸血症不伴甲基丙二酸尿症",["功能性甲硫氨酸合成缺乏症"]],[623,"NAME综合征",["痣-心房粘液瘤-粘液样神经纤维瘤-雀斑综合征"]],[624,"家族性多发性鲜红斑痣",["家族性多发性葡萄酒色痣"]],[625,"欧洲非罕见：非典型性色素痣",["发育异常痣"]],[626,"巨大先天性黑色素细胞痣",["巨大先天性黑色素细胞痣"]],[627,"Nance-Horan综合征"],[628,"畸形性侏儒",["畸型发育不全"]],[629,"生长激素结构异常所致身材矮小",["Kowarski综合征"]],[631,"非获得性孤立型生长激素缺乏症",["先天性孤立型生长激素缺乏症"]],[632,"孤立型生长激素缺乏伴X-连锁低丙球蛋白血症所致身材矮小"],[633,"Laron综合征",["生长激素抵抗所致矮小"]],[634,"Netherton综合征",["Comèl-Netherton综合征"]],[635,"神经母细胞瘤"],[636,"神经纤维瘤病1型",["von Recklinghausen病"]],[637,"神经纤维瘤病2型",["NF2"]],[638,"神经纤维瘤病-努南综合征",["神经纤维瘤病1型-努南综合征"]],[639,"MAG抗体阳性的IgM单克隆丙种球蛋白病伴相关性多发性神经病",["抗MAG神经病"]],[640,"遗传性压力易感性周围神经病",["17p11.2p12微缺失杂合子"]],[641,"多灶性运动神经病",["多灶性运动神经病伴传导阻滞"]],[642,"遗传性感觉和自主神经病4型",["遗传性感觉和自主神经性神经病IV型"]],[643,"巨轴索神经病",["GAN"]],[644,"NARP综合征",["神经源性肌无力-共济失调-色素性视网膜病变综合征"]],[646,"Niemann-Pick病C型"],[647,"Nijmegen breakage综合征",["免疫缺陷-小头畸形-染色体不稳定综合征"]],[648,"Noonan综合征"],[649,"诺里病",["胎儿虹膜炎综合征"]],[650,"卵磷脂酰基转移酶缺乏症",["卵磷脂-胆固醇酰基转移酶缺乏症"]],[651,"欧洲非罕见：特发性婴幼儿眼球震颤",["先天性特发性眼球震颤"]],[652,"多发性内分泌瘤病1型",["Wermer综合征"]],[653,"多发性内分泌瘤病2型",["MEN2型"]],[654,"肾母细胞瘤",["肾脏畸胎瘤"]],[655,"肾消耗病"],[656,"遗传性激素抵抗型肾病综合征",["家族性特发性激素抵抗型肾病综合征"]],[657,"先天性孤立型高胰岛素血症",["婴儿持续高胰岛素血性低血糖"]],[658,"非组胺源性血管性水肿",["非组胺源性血管性水肿"]],[659,"毁损性掌跖角化病伴口周围角化性斑块沉积",["毁损性掌跖角化过度伴口周围角化性斑块沉积"]],[660,"脐膨出"],[661,"Ondine综合征",["先天性中枢性肺泡换气不足综合征"]],[662,"黄指甲综合征",["淋巴水肿伴黄指甲"]],[663,"线粒体DNA相关进行性眼外肌麻痹",["母体遗传慢性进行性外眼肌麻痹"]],[664,"鸟氨酸氨甲酰转移酶缺乏症",["鸟氨酸氨基甲酰转移酶缺乏症"]],[665,"Albright遗传性骨营养不良症"],[666,"成骨不全",["Porak和Durante病"]],[667,"常染色体隐性恶性型骨硬化症",["婴儿恶性石骨症"]],[668,"骨肉瘤",["成骨性肉瘤"]],[669,"弃用：耳腭指综合征"],[670,"PIBIDS综合征",["毛发低硫营养不良-阳光敏感综合征"]],[671,"原发性回状颅皮"],[672,"Pallister-Hall综合征",["下丘脑错构母细胞瘤综合征"]],[673,"疟疾"],[674,"副胰"],[675,"环状胰腺"],[676,"遗传性慢性胰腺炎"],[677,"胰母细胞瘤"],[678,"Papillon-Lefèvre综合征",["掌跖角化-牙周病综合征"]],[679,"恶性萎缩性丘疹病",["Köhlmeier-Degos-Delort-Tricort 综合征"]],[680,"正常血钾型周期性麻痹",["钾敏感性正常血钾型周期性麻痹"]],[681,"低钾性周期性麻痹",["Westphall病"]],[682,"高钾性周期性麻痹",["遗传性周期性肌无力"]],[683,"进行性核上性麻痹",["PSP综合征"]],[684,"Von Eulenburg先天性副肌强直",["先天性副肌强直"]],[685,"遗传性痉挛性截瘫",["遗传性痉挛性下肢轻瘫"]],[699,"Pearson综合征"],[700,"全秃"],[701,"全身毛发脱失"],[702,"佩-梅病",["嗜苏丹型脑白质营养不良，Paelizeus-Merzbacher型"]],[703,"大疱性类天疱疮"],[704,"寻常型天疱疮"],[705,"Pendred综合征",["甲状腺肿-听力丧失综合征"]],[706,"欧洲非罕见：动脉导管未闭",["动脉导管未闭"]],[707,"鼠疫",["耶尔森菌病"]],[708,"Peters畸形",["Peters先天性青光眼"]],[709,"Peters Plus综合征",["Peters畸形伴短肢侏儒"]],[710,"Pfeiffer综合征",["尖头并指畸形5型"]],[711,"葡萄糖磷酸变位酶缺乏所致糖原贮积病",["糖原贮积病伴葡萄糖磷酸变位酶缺乏症"]],[712,"磷酸葡萄糖异构酶缺乏所致溶血性贫血"],[713,"磷酸甘油酸激酶缺乏所致糖原贮积病",["磷酸甘油酸酯激酶1缺乏所致糖原贮积病"]],[714,"2，3二磷酸甘油酸变位酶缺乏所致溶血性贫血"],[715,"肌肉磷酸化酶激酶缺乏所致糖原贮积病",["肌肉磷酸化酶激酶缺乏所致糖原贮积病"]],[716,"苯丙酮尿症",["苯丙氨酸羟化酶缺乏症"]],[717,"弃用：产儿茶酚胺肿瘤"],[718,"孤立型Pierre Robin综合征",["孤立型Pierre Robin序列征"]],[719,"弃用：叉状毛发"],[720,"叉状毛发"],[721,"灰色血小板综合征",["α血小板-颗粒缺乏症"]],[722,"低纤溶酶原血症",["纤溶酶原缺乏症1型"]],[723,"肺孢子虫病"],[724,"特发性急性嗜酸粒细胞肺炎",["IAEP"]],[725,"睡眠中脑电图持续尖峰/波浪",["癫痫性脑病伴慢波睡眠中脑电图持续尖峰/波浪"]],[726,"Alpers-Huttenlocher综合征",["儿童进行性神经元变性伴肝病"]],[727,"显微镜下多血管炎",["显微镜下多动脉炎"]],[728,"复发性多软骨炎",["多软骨炎"]],[729,"真性红细胞增多症",["获得性原发性红细胞增多症"]],[730,"常染色体显性多囊肾病",["ADPKD"]],[731,"常染色体隐性遗传多囊肾",["AR-PKD"]],[732,"多发性肌炎"],[733,"家族性腺瘤性息肉病",["结直肠腺瘤性息肉病"]],[734,"αΔ颗粒缺乏",["α-δ血小板贮池功能不足"]],[735,"汗孔角化病"],[736,"芒图汗孔角化症"],[737,"播散性掌跖汗管角化",["掌跖散发性汗孔角化病"]],[738,"卟啉病"],[739,"Prader-Willi综合征",["Prader-Labhart-Willi综合征"]],[740,"Hutchinson-Gilford早老症",["早老症"]],[741,"家族性二尖瓣脱垂"],[742,"氨酰基脯氨酸二肽酶缺乏症",["氨酰基脯氨酸二肽酶缺乏症"]],[743,"遗传性蛋白S缺乏所致严重遗传性血栓形成",["先天性S蛋白缺陷所致常染色体隐性血栓形成倾向"]],[744,"Proteus综合征",["局部巨人症-痣-偏侧肥大-巨颅畸形综合征"]],[745,"遗传性蛋白C缺乏所致严重遗传性血栓症",["原发性C缺乏所致常染色体隐性遗传血栓形成倾向"]],[746,"线粒体三功能蛋白缺乏症",["TFP缺乏"]],[747,"自身免疫性肺泡蛋白沉积症",["特发性肺泡蛋白沉积症"]],[748,"孟德尔遗传易感分枝杆菌病",["BCG或非典型分枝杆菌所致特发性感染"]],[749,"先天性前激肽释放酶原缺乏症"],[750,"假性软骨发育不全",["假性软骨发育不全性脊椎骨骺发育不良"]],[751,"欧洲非罕见：芳基硫酸酯酶类A缺乏"],[752,"17-β-羟基类固醇脱氢酶3缺乏所致男性假两性畸形",["17-β-羟类固醇脱氢酶3缺乏症"]],[753,"5-α还原酶2缺乏所致男性假两性畸形",["5-α-还原酶缺乏所致46，XY男性假两性畸形"]],[754,"雄激素不敏感综合征",["睾丸女性化综合征"]],[755,"Leydig细胞发育不全",["促黄体生成素抵抗或促黄体生成素β亚基缺乏所致46，XY性发育异常"]],[756,"假性醛固酮减少症I型",["PHA1型"]],[757,"假性醛固酮减少症2型",["高钾血症-高血压综合征，Gordon型"]],[758,"弹性假黄色瘤",["Gronblad-Strandberg-Touraine综合症"]],[759,"中枢性性早熟",["促性腺激素依赖性早熟"]],[760,"嘌呤核苷磷酸化酶缺陷",["嘌呤核苷磷酸化酶缺陷"]],[761,"IgA血管炎",["Henoch-Schönlein紫癜"]],[763,"致密性成骨不全症",["致密性成骨不全症"]],[764,"化脓性肌炎",["热带性脓性肌炎"]],[765,"丙酮酸脱氢酶缺乏症",["丙酮酸脱氢酶复合物缺乏症"]],[766,"红细胞丙酮酸激酶缺乏所致溶血性贫血",["红细胞丙酮酸激酶缺陷"]],[767,"结节性多动脉炎",["Küssmaul-Maier 综合征"]],[768,"家族性长QT综合征",["先天性长QT间期综合征"]],[769,"Rabson-Mendenhall综合征"],[770,"狂犬病"],[771,"欧洲非罕见：溃疡性结肠炎",["溃疡性直肠乙状结肠炎"]],[772,"婴儿雷夫叙姆病",["IRD"]],[773,"Refsum病",["遗传性运动和感觉神经病IV型"]],[774,"遗传性出血性毛细血管扩张症",["Rendu-Osler-Weber病"]],[775,"弃用：X连锁智力障碍，Martinez亚型"],[776,"X连锁智力障碍伴马凡综合征样体质",["Lujan-Fryns综合征"]],[777,"X连锁非综合征性智力障碍"],[778,"Rett综合征"],[779,"雷诺综合征",["原发性胆汁性肝硬化和系统性硬皮病"]],[780,"舌横纹肌肉瘤"],[781,"Q热",["贝氏柯克斯体所致感染"]],[782,"Axenfeld-Rieger综合征",["Axenfeld 综合征"]],[783,"Rubinstein-Taybi综合征",["宽指综合征"]],[785,"雌激素抵抗综合征"],[786,"全身性糖皮质激素抵抗综合征"],[790,"视网膜母细胞瘤"],[791,"色素性视网膜炎"],[792,"X连锁视网膜劈裂症",["X连锁青年性视网膜劈裂症"]],[793,"SAPHO综合征",["滑膜炎-痤疮-脓疱病-骨质增生-骨炎综合征"]],[794,"Saethre-Chotzen综合征",["尖头并指畸形3型"]],[795,"罕见型沙门氏杆菌感染"],[796,"Sandhoff病",["己糖胺酶A/B缺乏症"]],[797,"结节病",["Besnier-Boeck-Schaumann病"]],[798,"Schinzel-Giedion综合征",["SGS"]],[799,"脑裂性孔洞脑"],[800,"Schwartz-Jampel综合征",["肌强直性肌病-侏儒-软骨营养不良-眼面畸形"]],[801,"硬皮病"],[802,"多发性硬化"],[803,"肌萎缩侧索硬化",["Lou Gehrig病"]],[805,"复合型结节性硬化病",["Bourneville综合征"]],[806,"Scott综合征"],[807,"塞巴斯坦综合征",["巨血小板减少症伴白细胞包涵体"]],[808,"Seckel综合征"],[809,"混合性结缔组织病",["Sharp综合征"]],[810,"细菌性痢疾"],[811,"Shwachman-Diamond综合征",["胰腺功能不全和骨髓功能障碍"]],[812,"唾液酸贮积症1型",["樱桃红斑肌阵挛综合征"]],[813,"Silver-Russell综合征",["Silver-Russell侏儒症"]],[816,"Sj÷gren-Larsson 综合征",["脂肪酸醇氧化还原酶缺乏症"]],[817,"皮肤剥离综合征",["家族性持续皮肤剥离综合征"]],[818,"Smith-Lemli-Opitz综合征",["7-脱氢胆固醇还原酶缺乏症"]],[819,"史密斯-马吉利氏综合征",["17p11.2微缺失综合征"]],[820,"Sneddon综合征",["网状青斑-脑血管意外综合征"]],[821,"Sotos综合征",["脑性巨人症"]],[822,"遗传性球形红细胞增多症",["Minkowski-Chauffard病"]],[823,"孤立型脊柱裂"],[824,"原发性骨髓纤维化",["骨髓纤维化伴髓样化生"]],[825,"欧洲非罕见：强直性脊柱炎",["强直性脊椎关节炎"]],[826,"孢子丝菌病"],[827,"Stargardt病",["眼底黄色斑点症"]],[828,"Stickler综合征",["遗传性进行性关节与眼病"]],[829,"成人Still病",["Wissler-Fanconi综合征"]],[830,"欧洲非罕见：灰泥角化病"],[831,"先天性颈椎管狭窄",["先天性颈椎管狭窄症"]],[832,"琥珀酰辅酶A：3酮酸辅酶A转移酶缺乏症",["琥珀酰辅酶A-酮酸辅酶A转移酶缺乏症"]],[833,"亚硫酸盐氧化酶缺乏所致脑病"],[834,"游离性唾液酸贮积病"],[838,"Susac综合征",["视网膜病-脑病-听力丧失相关性微血管病"]],[839,"先天性肾脏综合征，Finnish型",["Finnish先天性肾脏病"]],[840,"乳头状汗管囊腺瘤",["痣合并乳头状汗管囊腺瘤"]],[841,"皮脂囊肿病",["多发性皮脂囊肿"]],[842,"睾丸精原细胞瘤",["睾丸精原细胞性生殖细胞肿瘤"]],[844,"Lown-Ganong-Levine综合征",["房性快速心律失常伴PR间期缩短"]],[845,"Tay-Sachs病",["GM2神经节苷质病，B，B1变型"]],[846,"α-地中海贫血"],[847,"X连锁α地中海贫血-智力障碍综合征",["ATR-X 综合征"]],[848,"β-地中海贫血"],[849,"Glanzmann血小板减少症"],[850,"May-Hegglin血小板减少症",["May-Hegglin综合征"]],[851,"Paris-Trousseau血小板减少症"],[852,"X连锁血小板减少症伴正常血小板"],[853,"胎儿和新生儿同种免疫性血小板减少症",["FNAIT"]],[854,"原发性门静脉血栓形成",["非肝硬化门静脉血栓"]],[855,"欧洲非罕见：桥本甲状腺炎",["桥本甲状腺功能减退"]],[856,"欧洲非罕见：抽动秽语综合征",["多动秽语综合征"]],[857,"汤-布综合征",["感音神经性听力丧失伴肛门闭锁及拇指发育不全"]],[858,"先天性弓形虫病",["母婴传播型弓形虫病"]],[859,"转钴胺素缺乏症",["遗传性跨钴胺缺乏症"]],[860,"先天性非矫正型大动脉转位",["心室动脉错位伴房室协调"]],[861,"下颌面骨发育不全",["下颌面骨发育不全不伴肢体畸形"]],[862,"欧洲非罕见：遗传性特发性震颤"],[863,"旋毛虫病",["旋毛虫病"]],[864,"毛囊瘤"],[867,"多发性家族性毛发上皮瘤"],[868,"磷酸丙糖异构酶缺乏症"],[869,"三联A综合征",["肾上腺功能减退-贲门失弛缓-无泪综合征"]],[870,"唐氏综合征",["21-三体"]],[871,"家族性进行性心脏传导阻滞",["家族性进行性心脏传导阻滞"]],[872,"弃用：激素合成紊乱伴或不伴甲状腺肿"],[873,"韧带样纤维瘤",["韧带样型纤维瘤病"]],[874,"原发性成人心脏肿瘤",["成人心脏肿瘤"]],[875,"原发性小儿心脏肿瘤",["儿童心脏肿瘤"]],[876,"卵黄囊瘤",["内胚窦瘤"]],[877,"神经内分泌瘤"],[879,"潜蚤病"],[881,"特纳综合征",["45，X/46，XX综合征"]],[882,"酪氨酸血症1型",["延胡索酰乙酰乙酸水解酶缺乏症"]],[883,"性腺外畸胎瘤"],[884,"12号染色体短臂四体型",["12号染色体短臂嵌合等臂染色体"]],[886,"Usher综合征",["色素性视网膜炎-听力丧失综合征"]],[887,"VACTERL/VATER联合征",["VACTERL联合征"]],[888,"Van der Woude综合征",["唇裂/腭裂伴下唇粘液囊肿"]],[889,"皮肤小血管炎",["皮肤过敏性血管炎"]],[890,"肝静脉闭塞性疾病",["肝窦阻塞综合征"]],[891,"家族性渗出性玻璃体视网膜病变",["Criswick-Schepens综合症"]],[892,"Von Hippel-Lindau病",["家族性小脑视网膜血管瘤病"]],[893,"WAGR综合征",["Wilms瘤-无虹膜-泌尿生殖道畸形-智力障碍综合征"]],[894,"Waardenburg综合征1型",["Waardenburg综合征1型"]],[895,"Waardenburg综合征2型",["Waardenburg综合征2型"]],[896,"Waardenburg综合征3型",["Waardenburg综合征伴肢体畸形"]],[897,"Waardenburg-Shah综合征",["Waardenburg-Hirschsprung综合征"]],[898,"Wagner病",["Wagner显性遗传玻璃体视网膜营养不良"]],[899,"沃克-沃伯格综合征",["脑积水-无脑回畸形-视网膜发育不良综合征"]],[900,"肉芽肿性血管炎",["GPA"]],[901,"韦尔斯综合征",["嗜酸性蜂窝织炎"]],[902,"Werner综合征",["成人早衰"]],[903,"血管性血友病",["遗传性von Willebrand 病"]],[904,"威廉斯综合征",["Williams-Beuren综合征"]],[905,"肝豆状核变性",["肝豆状核变性"]],[906,"Wiskott-Aldrich综合征",["湿疹-血小板减少-免疫缺陷综合征"]],[907,"欧洲非罕见：预激综合征",["室性家族性预激综合征"]],[908,"脆性X综合征",["Martin-Bell综合征"]],[909,"脑腱性黄瘤病",["甾醇27-羟化酶缺乏症"]],[910,"着色性干皮病"],[911,"ZAP70缺乏所致联合免疫缺陷",["ζ-链相关蛋白70缺乏"]],[912,"Zellweger综合征",["脑肝肾综合征"]],[913,"Zollinger-Ellison 综合征",["胃泌素瘤"]],[915,"阿-斯综合征",["面-指-生殖器综合征"]],[916,"Aase-Smith综合征",["脑积水-腭裂-关节挛缩综合征"]],[918,"ABCD综合征",["白化病-黑发-肠神经细胞迁移障碍-感音神经性聋综合征"]],[920,"无睑-巨口综合征"],[921,"Abruzzo-Erickson综合征",["腭裂-眼缺损-听力丧失综合征"]],[922,"家族性鼻腔无纤毛症"],[924,"欧洲非罕见：黑棘皮症"],[926,"过氧化氢酶缺乏症",["过氧化氢酶缺乏症"]],[927,"N-乙酰谷氨酸合成酶缺乏所致高氨血症",["NAGS缺乏症"]],[929,"贲门失弛缓-小头综合征"],[930,"特发性贲门失弛缓症",["特发性食管失弛缓症"]],[931,"无手足畸形",["无手足畸形"]],[932,"软骨成长不全"],[935,"短肢骨骼发育不良伴严重联合免疫缺陷",["软骨发育不全-Swiss型无丙种球蛋白血症综合征"]],[936,"琥珀酸血症"],[939,"3-羟基酸尿症"],[941,"D-甘油酸尿症",["D-甘油酸激酶缺乏症"]],[943,"丙二酸尿症",["丙二酰-CoA脱羧酶缺乏"]],[945,"无颅骨症",["原发性无颅骨症"]],[946,"尖头并指（趾）畸形",["尖头并指(趾)畸形"]],[949,"肢端颅面骨发育不良",["Kaplan-Plauchu-Fitch综合征"]],[950,"肢端骨发育不全",["Maroteaux-Malamut综合征"]],[952,"肢端面部骨发育不全，Weyers型",["肢端面部骨发育不全，Weyers型"]],[953,"废弃：肢端肢中发育不良，Brahimi-Bacha型"],[955,"肢端骨质溶解外显型",["肢端骨溶解症伴骨质疏松与颅骨、下颌骨改变"]],[956,"肩胛肾发育不良"],[957,"肩胛脊柱发育不良",["F综合征"]],[958,"肢端-肾-下颌综合征",["裂手/裂脚-下颌发育不全综合征"]],[959,"肩胛-肾-眼综合征"],[963,"肢端肥大症"],[964,"肢端肥大-回状颅皮-角膜白斑综合征"],[965,"肢端肥大样面容综合征"],[966,"多毛-肢端肥大样面容综合征",["多毛-肢端肥大样面容综合征"]],[968,"肢端肢中发育不良，Hunter-Thompson型",["肢端肢中性侏儒症"]],[969,"肢端发育不良"],[970,"遗传性感觉和自主神经病2型",["遗传性感觉和自主神经病2型"]],[971,"肢端肾综合征"],[972,"遗传性持续肌纤维活动"],[973,"先天性除拇指外单侧手指缺如/发育不全",["第2-5指少指畸形，单侧"]],[974,"Adams-Oliver综合征",["先天性头皮缺损伴远端肢体残缺异常"]],[976,"腺嘌呤磷酸核糖基转移酶缺乏症",["2,8-二羟基腺嘌呤尿路结石症"]],[977,"肾上腺肌营养不良"],[978,"ADULT综合征",["色素异常-外胚层发育不全-牙发育不全综合征"]],[980,"肺动脉缺如",["单侧肺动脉缺如"]],[981,"颈内动脉发育不全"],[982,"肺动脉瓣发育不全",["原发性肺动脉瓣缺如"]],[983,"睾丸退化综合征",["胚胎睾丸退化综合征"]],[984,"肺发育不全"],[988,"胫侧半肢畸形-多并指（趾）-拇指三节指骨综合征",["胫骨缺如-多指畸形综合征"]],[989,"缺舌-缺指综合征",["Aglossia-adactylia综合征"]],[990,"无颌-前脑无裂畸形-转位综合征"],[991,"PAGOD综合征",["肺发育不良-性腺缺如-右位心-膈疝综合征"]],[994,"胎儿运动迟缓/运动减退序列",["关节挛缩多发性先天性-肺发育不全综合征"]],[995,"X连锁致死性运动失能综合征",["Holmes-Benacerraf 综合征"]],[998,"白化病-耳聋综合征",["白化病-听力丧失综合征"]],[999,"色素紊乱伴发听力损失",["色素异常伴听力丧失"]],[1000,"眼白化病伴发迟发性感觉神经性聋",["眼白化病伴迟发性感音神经性听力丧失"]],[1001,"2q37微缺失综合征",["Albright遗传性骨营养不良样综合征"]],[1002,"欧洲非罕见：丛集性头痛",["红斑性头痛"]],[1003,"头皮缺损-轴后性多指（趾）综合征"],[1005,"脱发-挛缩-侏儒症-智力障碍综合征",["ACD-智力障碍综合征"]],[1006,"脱发抗体缺乏症",["Ipp-Gelfand综合征"]],[1008,"脱发-癫痫-脓溢-智力障碍综合征",["Shokeir综合征"]],[1010,"常染色体显性遗传掌跖角化症伴先天性秃发",["常染色体显性遗传掌跖角化症伴先天性秃发"]],[1011,"脱发-性腺功能减退-锥体外系综合征",["Devriendt-Legius-Fryns综合征"]],[1014,"脱发-智力障碍-高促性腺激素性性腺机能减退综合征",["Devriendt-Vandenberghe-Fryns综合征"]],[1018,"X连锁Alport综合征-弥漫性平滑肌瘤病",["Xq22.3 微缺失综合征"]],[1019,"Epstein 综合征",["Alport综合征伴巨血小板减少症"]],[1020,"早发性常染色体显性阿尔茨海默症",["早发性家族性常染色体显性阿尔茨海默症"]],[1021,"黑蒙多毛综合征"],[1023,"先天性全身性多毛，Ambras型",["Ambras综合征"]],[1027,"常染色体隐性遗传无肢畸形"],[1028,"甲成釉质不良-少汗综合征",["甲成釉质不良-少汗外胚层发育不良"]],[1031,"牙釉质-肾病综合征",["牙釉质发育不全-肾病综合征"]],[1032,"弃用：高双碱基氨基酸尿症，1型"],[1034,"废弃：羊膜带",["羊膜畸形-粘连-残缺综合征"]],[1035,"β-巯基乳酸半胱氨酸二硫尿症",["3-巯基丙酮酸硫酸转移酶缺乏症"]],[1037,"先天性多发性关节挛缩",["先天性多发性关节挛缩"]],[1040,"干骺端发育不良",["Maroteaux-Verloes-Stanescu综合征"]],[1041,"胎儿水肿",["全身胎儿水肿"]],[1044,"弃用：腺苷三磷酸酶缺乏所致贫血"],[1046,"致死性溶血性贫血-生殖器异常综合征",["Water-West综合征"]],[1047,"铁粒幼细胞性贫血"],[1048,"孤立型无脑回畸形/露脑畸形"],[1051,"Ramos-Arroyo综合征",["角膜感觉异常-听力损失-智力障碍-综合征"]],[1052,"镶嵌非整倍杂色体综合征",["Warburton-Anyane-Yeboa综合征"]],[1053,"静脉Galen动脉瘤样畸形",["静脉Galen动脉瘤样畸形"]],[1054,"主动脉窦瘤"],[1055,"先天性左心室室壁瘤"],[1057,"废弃：颅内动脉瘤-多发性先天性异常综合征"],[1059,"蓝色橡皮疱样痣",["Bean综合征"]],[1060,"系统性囊状血管瘤-赛普综合征",["Brunzell综合征"]],[1062,"遗传性神经皮肤畸形"],[1063,"丛状血管病",["Nakagawa血管母细胞瘤"]],[1064,"无虹膜-肾缺如-精神运动发育迟缓综合征",["Sommer-Rathbun-Battles综合征"]],[1065,"无虹膜症-小脑共济失调-智力障碍综合征",["Gillespie综合征"]],[1067,"无虹膜-上睑下垂-智力障碍-家族性肥胖综合征"],[1068,"无虹膜-智力障碍综合征",["Walker-Dyson综合征"]],[1069,"无虹膜-髌骨缺如综合征"],[1070,"异尖线虫病"],[1071,"睑缘粘连-外胚层发育不良-唇/腭裂综合征",["Hay-Wells综合征"]],[1072,"丝状睑缘粘连-腭裂综合征"],[1074,"丝状睑缘粘连-肛门闭锁综合征",["Aughton-Hufnagle综合征"]],[1077,"牙-牙槽骨骨性黏连",["牙-牙槽骨骨性黏连"]],[1078,"拇指僵硬-短肢畸形-智力障碍综合征",["Piussan-Lenaerts-Mathieu综合征"]],[1081,"冠状动脉先天畸形"],[1083,"小头畸形"],[1084,"无已知基因缺陷孤立型无脑回畸形1型"],[1088,"废弃：身材矮小-心脏缺陷-颅面畸形综合征",["Rommen-Mueller-Sybert综合征"]],[1092,"肾-生殖器-中耳畸形"],[1094,"甲缺如-小头畸形综合征",["Teebi-Kaurah综合征"]],[1101,"无眼畸形-巨角膜-心脏病-骨骼畸形综合征",["Cassia Stocco dos Santos 综合征"]],[1102,"无眼畸形-下丘脑-垂体功能减退",["Al Frayh-Facharzt-Haque综合征"]],[1104,"无眼畸形加综合征",["小眼畸形伴面裂"]],[1106,"小眼畸形伴肢体异常",["Waardenburg无眼综合征"]],[1110,"主动脉弓异常-面部畸形-智力障碍综合征"],[1112,"无指（趾）畸形-半锥体-泌尿生殖道-肠发育不全综合征",["Johnson-Munson综合征"]],[1113,"无指（趾）畸形-并指（趾）-小头畸形综合征"],[1114,"先天性皮肤发育不良"],[1115,"弃用：肢体隐性先天性表皮发育不良"],[1116,"先天性表皮发育不良肠淋巴管扩张综合征",["Bronspiegel-Zelnick综合征"]],[1117,"皮肤发育不良-近视综合征",["Gershoni-Baruch-Leibo综合征"]],[1118,"腓骨发育不良-缺指(趾)畸形综合征"],[1120,"肺发育缺陷-心脏缺陷-拇指畸形综合征",["Mardini-Nyhan综合征"]],[1121,"桡骨缺陷-胫骨发育不全综合征"],[1122,"尺骨发育不全-裂足综合征",["尺骨发育不良-龙虾爪畸形足综合征"]],[1123,"尾部附肢-耳聋综合征",["尾部附肢-听力丧失综合征"]],[1125,"眼运动失用症Cogan型",["眼运动失用症，Cogan型"]],[1126,"脑前部缺无合并小脑发育不全"],[1129,"蜘蛛指畸形-异常骨化-智力障碍综合征",["Kosztolanyi 综合征"]],[1130,"蜘蛛指畸形-智力障碍-外貌畸形综合征",["De Die-Smulders-Vles-Fryns 综合征"]],[1131,"X-连锁下颌面骨发育不全",["X-连锁下颌面骨发育不全伴肢体畸形"]],[1132,"主动脉弓中断"],[1133,"AREDYLD 综合征",["肾缺损-外胚层发育不良-糖尿病综合征"]],[1134,"孤立型无鼻畸形",["孤立性鼻发育不全"]],[1135,"无鼻畸形-鼻后孔闭锁-小眼畸形综合征"],[1136,"Arnold-Chiari畸形2型",["Arnold-Chiari畸形2型"]],[1137,"弃用：肺动脉狭窄合并梗阻性尿路病",["Kashani-Strom-Utley综合征"]],[1138,"肺动脉起源异常"],[1139,"弃用：关节挛缩-癫痫-迁移性脑病障碍综合征"],[1143,"先天性多发性神经源性关节挛缩"],[1144,"关节挛缩样手畸形-感觉神经性耳聋综合征",["关节挛缩样手畸形-感音神经性听力丧失综合征"]],[1145,"婴儿发病型X-连锁脊髓性肌萎缩症",["X连锁先天性多发远端关节挛缩"]],[1146,"远端关节挛缩1型",["远端关节弯曲1型"]],[1147,"Sheldon-Hall综合征",["Freeman-Sheldon综合征变异型"]],[1149,"Kuskokwim综合征",["关节挛缩样综合征"]],[1150,"先天性多发关节弯曲-吹口哨面容综合征",["Illum综合征"]],[1153,"弃用：暂时性新生儿关节挛缩"],[1154,"关节挛缩-眼球运动受限-电传导异常综合征",["远端关节弯曲伴眼肌麻痹"]],[1155,"弃用：肌营养不良症所致关节挛缩"],[1159,"儿童进行性假类风湿性关节炎",["脊柱骺发育不良迟缓-进展性关节病综合征"]],[1160,"乳糜腹水"],[1162,"欧洲非罕见：阿斯伯格综合征"],[1163,"曲霉菌病"],[1164,"变应性支气管肺曲霉菌病",["变应性曲霉菌病"]],[1166,"先天性单侧降口角肌发育不良",["孤立型非对称性哭脸"]],[1167,"弃用：面部不对称-颞叶癫痫综合征"],[1168,"共济失调动眼运用不能I型",["AOA1型"]],[1170,"常染色体隐性遗传小脑皮质病3型",["常染色体隐性遗传脊髓小脑共济失调2型"]],[1171,"小脑共济失调-反射消失-弓形足-视神经萎缩-感音神经性耳聋综合征",["CAPOS综合征"]],[1172,"常染色体隐性小脑共济失调",["ARCA"]],[1173,"小脑共济失调-性腺功能减退综合征",["黄体素释放激素缺乏伴共济失调"]],[1174,"小脑共济失调-外胚层发育不良综合征"],[1175,"X-连锁进行性小脑共济失调"],[1177,"早发型小脑共济失调伴肌腱反射保留",["Harding共济失调"]],[1178,"共济失调-视网膜色素层变性综合征"],[1179,"儿童良性阵发性强直性上凝视伴共济失调",["Ouvrier-Billson综合征"]],[1180,"共济失调-性腺功能减退-脉络膜营养不良综合征",["Boucher-Neuhäuser综合征"]],[1182,"痉挛性共济失调伴先天性瞳孔缩小",["常染色体显性遗传痉挛性共济失调7型"]],[1183,"眼球阵挛-肌阵挛综合征",["副肿瘤性斜视性眼肌阵挛-肌阵挛-共济失调综合征"]],[1184,"共济失调-光敏感-身材矮小综合征",["Fenton-Wilkinson-Toselano综合征"]],[1185,"脊髓小脑共济失调-畸形综合征"],[1186,"婴儿起病型脊髓小脑共济失调",["眼外肌麻痹-肌张力低下-共济失调-听觉减退-手足徐动综合征"]],[1187,"致死性共济失调伴耳聋和视神经萎缩",["致死性共济失调伴耳聋和视神经萎缩"]],[1188,"共济失调-耳聋-智力障碍综合征",["Reardon-Baraitser综合征"]],[1190,"骨发育不全症1型",["脊柱-肱骨-股骨发育不良"]],[1192,"动脉粥样硬化-耳聋-糖尿病-癫痫-肾病综合征",["Feigenbaum-Bergeron-Richardson 综合征"]],[1193,"Atkin-Flaitz综合征",["X连锁智力障碍，Atkin型"]],[1194,"TMEM70相关性线粒体脑肌病-心脏病",["孤立型ATP合酶缺乏所致线粒体脑心肌病"]],[1195,"先天性无转铁蛋白血症",["先天性低转铁蛋白血症"]],[1198,"结肠闭锁"],[1199,"食管闭锁"],[1200,"鼻后孔闭锁-听力丧失-心脏缺陷-颅面畸形综合征",["Burn-McKeown综合征"]],[1201,"小肠闭锁",["肠闭锁IIIb型"]],[1202,"喉闭锁"],[1203,"十二指肠闭锁"],[1205,"二尖瓣闭锁"],[1207,"肺动脉闭锁合并室间隔缺损"],[1208,"肺动脉瓣闭锁-室间隔完整综合征"],[1209,"三尖瓣闭锁"],[1211,"弃用：无毛-精神发育迟缓综合征"],[1214,"进行性半侧颜面萎缩",["进行性半侧颜面萎缩"]],[1215,"常染色体显性遗传视神经萎缩加综合征",["视神经萎缩-听力丧失-多发性神经病-肌病综合征"]],[1216,"常染色体显性遗传先天性良性脊髓性肌萎缩",["先天性良性脊髓性肌萎缩伴挛缩"]],[1217,"脊髓性肌萎缩-眼肌麻痹-锥体束征综合征",["Hamano-Tsukamoto 综合征"]],[1219,"尖头并趾畸形",["Kurczynski-Casperson综合征"]],[1221,"腺性唇炎"],[1223,"小袋纤毛虫病",["纤毛虫痢疾"]],[1225,"Baller-Gerold综合征"],[1226,"Bamforth-Lazarus综合征",["五甲状腺甲状腺功能减退-头发硬直-腭裂综合征"]],[1227,"Bangstad综合征",["共济失调-糖尿病-甲状腺肿-性腺功能不全综合征"]],[1228,"Banki综合征"],[1229,"先天性宫内感染样综合征",["小头畸形-颅内钙化-智力障碍综合征"]],[1231,"Barber-Say综合征",["多毛-皮肤萎缩-睑外翻-大口畸形综合征"]],[1232,"欧洲非罕见：Barrett食管"],[1234,"Bartsocas-Papas综合征",["常染色体隐性腘窝翼状赘蹼综合征"]],[1235,"弃用：真皮发育不良-皮纹缺乏综合征",["Basan综合征"]],[1236,"重度小头短头畸形-智力障碍-手足徐动症样大脑麻痹综合征"],[1237,"Beemer-Ertbruggen综合征",["致死性脑积水-心脏畸形-致密骨综合征"]],[1239,"弃用：贝尔综合征"],[1240,"干骺端肢端发育异常",["智能障碍-身材矮小-膝关节楔形骨骺综合征"]],[1241,"Bencze综合征",["半面过度增生-斜视综合征"]],[1243,"Best卵黄样黄斑营养不良",["青年发病型卵黄样黄斑营养不良"]],[1244,"欧洲非罕见：二叶主动脉瓣"],[1245,"毛发低硫营养不良",["Amish脆发综合症"]],[1246,"短指症-眼球震颤-小脑共济失调综合征",["Biemond综合征"]],[1247,"血吸虫病",["裂体吸虫病"]],[1248,"上颌窦-鼻发育异常",["上颌窦-鼻发育异常"]],[1249,"弃用：皮质下动脉硬化性脑病"],[1250,"弃用：Blaichman 综合征",["气管食管瘘-指骨关节融合综合征"]],[1251,"睑面骨骼综合征",["Richieri-Costa-Guion-Almeida-Rodini综合征"]],[1252,"睑鼻面畸形综合征",["Pashayan-Pruzansky综合征"]],[1253,"Ascher综合征",["眼睑皮肤松弛-双唇综合征"]],[1256,"弃用：睑裂狭小-尺桡关节融合综合征",["Jorgenson-Lenz综合征"]],[1258,"弃用：眼睑下垂-腭裂-先天性缺指-齿异常综合征",["Rodini-Richieri Costa 综合征"]],[1259,"眼睑松弛-近视-晶状体异位综合征"],[1260,"弃用：Sino心耳闭锁"],[1261,"Bonnemann-Meinecke-Reich综合征",["脑病-脑内钙化-视网膜变性综合征"]],[1262,"B÷÷k综合征"],[1263,"回飞镖样骨发育不全症"],[1264,"毛发-视网膜-牙-指综合征",["难梳发-视网膜色素营养不良-牙齿异常-短指综合征"]],[1266,"皮肤-心脏-骨骼综合征，Borrone 型"],[1267,"肉毒梭菌毒素中毒"],[1270,"Bowen-Conradi综合征",["Bowen综合征，Hutterite型"]],[1271,"Bowen综合征"],[1272,"AymÚ-Gripp综合征",["短头畸形-听力丧失-白内障-智力障碍综合征"]],[1275,"短指畸形-肘腕发育不良综合征",["短指畸形-关节发育不良综合征"]],[1276,"短指畸形-动脉高血压综合征",["E型短指畸形伴身材矮小及高血压"]],[1277,"短指畸形-智力低下-心脏缺陷综合征",["Stratton-Garcia-Young综合征"]],[1278,"短指畸形-前轴型拇内翻综合征"],[1292,"短指畸形-甲发育不良-指（趾）骨发育不全综合征",["Senior综合征"]],[1293,"短脊柱畸形"],[1295,"末节指骨短小-外貌畸形-卡尔曼氏综合征"],[1296,"Lambert综合征",["鳃发育不良-智力障碍-腹股沟疝综合征"]],[1297,"鳃眼面综合征",["BOFS"]],[1299,"鳃骨生殖器综合征",["Elsahy-Waters综合征"]],[1300,"常染色体显性遗传腘翼综合征",["面-生殖器-腘窝综合征"]],[1301,"支气管扩张-少弱精子症综合征"],[1302,"隐源性机化性肺炎",["闭塞性细支气管炎机化性肺炎"]],[1303,"闭塞性细支气管炎伴阻塞性肺疾病",["闭塞性细支气管炎"]],[1304,"布鲁杆菌病"],[1305,"Feingold综合征",["指畸形伴短睑裂和食管或十二指肠闭锁"]],[1306,"Buschke-Ollendorff综合征",["骨斑点状合并皮肤纤维瘤"]],[1307,"远端肢体缺如-小颌畸形综合征",["10q24微重复综合征"]],[1308,"C综合征",["Opitz三角头畸形C综合征"]],[1309,"髓质海绵肾",["髓质海绵肾"]],[1310,"婴儿骨皮质增生症",["婴儿骨皮质增生症"]],[1313,"婴儿脉络膜脑钙化综合征"],[1314,"对称性丘脑钙化",["双侧对称性丘脑胶质增生"]],[1317,"CAMFAK综合征",["白内障-小头畸形-生长受限-脊柱后凸综合征"]],[1318,"肢体弯曲Cumming型"],[1319,"短指弯曲畸形"],[1320,"特发性躯干前曲症",["特发性进行性腰椎后凸"]],[1321,"指屈曲-纤维组织增生-骨骼发育不良综合征",["Goodman指弯曲畸形"]],[1323,"指屈曲-关节挛缩-面部骨骼缺损综合征",["Rozin指弯曲畸形综合征"]],[1325,"指屈曲-牛磺酸尿综合征",["家族性指屈曲畸形-氨基酸尿症"]],[1326,"先天性手指屈曲综合征，瓜达拉哈拉2型"],[1327,"先天性指屈曲综合征，瓜达拉哈拉1型"],[1328,"进行性骨干发育不良",["进行性骨干发育不良"]],[1329,"完全型房室间隔缺损",["完全性房室管缺损"]],[1330,"部分房室间隔缺损",["部分性房室管畸形"]],[1331,"家族性前列腺癌"],[1332,"甲状腺髓样癌",["MTC"]],[1333,"家族性胰腺癌",["家族性胰腺癌"]],[1334,"慢性粘膜皮肤念珠菌病",["CMC"]],[1335,"Cantrell五联症",["胸腹综合征"]],[1336,"角化过度-色素沉着综合征"],[1338,"心脏缺损-舌错构瘤-多指并指综合征",["Ostravik-Lindemann-Solberg综合征"]],[1339,"弃用：颅-肢端-面综合征",["Grosse综合征"]],[1340,"心面皮肤综合征",["CFC综合征"]],[1342,"心-手综合征3型",["心-手综合征，西班牙型"]],[1344,"心房静止",["心房心肌病伴心脏传导阻滞"]],[1345,"心肌病-白内障-髋部脊柱疾病综合征",["Krasnow-Qazi综合征"]],[1349,"线粒体DNA相关性心肌病伴听力损失",["tRNA-溶酶体相关心肌病-听力丧失综合征"]],[1350,"心-手综合征2型",["心房指发育不全2型"]],[1352,"房室缺损-睑裂狭小-桡骨和肛门缺如综合征",["Houlston-Ironton-Temple综合征"]],[1354,"心脏缺损-肢体短缩综合征"],[1355,"先天性心脏缺陷-圆脸-发育迟缓综合征",["Sonoda综合征"]],[1358,"Carey-Fineman-Ziter综合征",["肌病-Moebius-Robin综合征"]],[1359,"Carney综合征",["黏液瘤-斑点样色素沉着-内分泌过度活动综合征"]],[1361,"肌肽酶缺乏"],[1366,"常染色体隐性遗传掌跖角化病与先天性脱发",["常染色体隐性遗传掌跖角化病与先天性脱发"]],[1368,"白内障-共济失调-耳聋综合征",["白内障-共济失调-听力丧失综合征"]],[1369,"先天性白内障-肥厚型心肌病-线粒体性肌病综合征",["Sengers综合征"]],[1373,"白内障-口腔系带异常-生长迟缓综合征",["Wellesley-Carman-French综合征"]],[1375,"白内障-多毛-智力障碍综合征",["CAHMR综合征"]],[1376,"弃用：先天性白内障-鱼鳞病综合征"],[1377,"白内障-小角膜综合征"],[1380,"白内障-肾病-脑病综合征",["Crome综合征"]],[1381,"白内障-智力障碍-肛门闭锁-泌尿系缺损综合征",["Karandikar-Maria-Kamble综合征"]],[1383,"白内障-耳聋-性腺机能减退综合征",["白内障-听力丧失-性腺功能减退综合征"]],[1387,"白内障-智力障碍-性腺功能减退综合征",["Martsolf综合征"]],[1388,"Catel-Manzke综合征",["多指-食指弯曲畸形伴Pierre Robin综合征"]],[1389,"皮质盲-智力障碍-多指（趾）综合征"],[1390,"夜盲-骨骼异常-畸形综合征",["Hunter-Thompson-Reed综合征"]],[1393,"大脑肋骨下颌综合征"],[1394,"颅面畸形和智力迟滞、骨骼异常综合征",["Pascual-Castroviejo综合征1型"]],[1396,"弃用：脑-肾-指综合征"],[1397,"脑积水-小脑发育不全综合征"],[1398,"孤立型小脑发育不全",["大部分小脑缺如"]],[1399,"Richards-Rundle综合征",["酮症酸尿-智力障碍-共济失调-听力丧失综合征"]],[1401,"CHAND综合征",["卷发-睑缘粘连-甲发育不良综合征"]],[1406,"查理M综合征"],[1408,"头发缺损-光敏感-智力障碍综合征",["Calderón-González-Cantu综合征"]],[1409,"羊毛状发-毛发稀少-下唇外翻-外耳横突综合征",["羊毛状发-少毛-下唇外翻-招风耳综合征"]],[1410,"难梳头发综合征",["难梳头发综合征"]],[1412,"跗骨-腕骨联体综合征"],[1414,"胆汁淤积-淋巴水肿综合征",["Aagenaes综合征"]],[1415,"胆汁淤塞-色素性视网膜病-腭裂综合征",["Hardikar 综合征"]],[1416,"家族性焦磷酸钙沉着",["焦磷酸二水合钙结晶沉积病"]],[1417,"弃用：椎骨体扁平致死性软骨发育异常",["Akaba-Hayasaka综合征"]],[1420,"弃用：致命性软骨发育不良Moerman型",["Moerman-Vandenberghe-Fryns综合征"]],[1421,"弃用：致命性软骨发育不良Seller 型"],[1422,"软骨发育不良-性别分化异常综合征",["Nivelon-Nivelon-Mabille综合征"]],[1423,"致死性隐性软骨发育不全",["Maroteaux-Stanescu-Cousin综合征"]],[1425,"Desbuquois综合征",["Desbuquois发育不良"]],[1426,"Greenberg骨骼发育不良",["水肿-异位钙化-虫蚀样综合征"]],[1427,"大耳脊椎骨骺发育不良",["OSMED"]],[1428,"家族性髌骨软骨软化"],[1429,"良性遗传性舞蹈症",["良性家族性舞蹈症"]],[1431,"阵发性运动障碍",["阵发性张力障碍性舞蹈手足徐动症"]],[1432,"常染色体显性遗传脉络膜视网膜病变-小头畸形综合征"],[1433,"脉络膜萎缩-秃发综合征",["局灶性脉络膜萎缩及秃发"]],[1434,"弃用：无脉络膜-垂体功能减退综合征",["CHM-垂体功能减退综合征"]],[1435,"Xq21微缺失综合征",["Ayazi综合征"]],[1436,"X连锁骨骼发育不良-智力障碍综合征",["Christian综合征"]],[1437,"环状1号染色体综合征",["r(1)综合征"]],[1438,"环状10号染色体综合征",["环状10号染色体"]],[1439,"环状12号染色体综合征",["环状12号染色体"]],[1440,"14号环状染色体综合征",["14号环状染色体"]],[1441,"17染色体环状染色体综合征",["17号环状染色体"]],[1442,"18号环状染色体综合征",["18号环状染色体"]],[1443,"19号环状染色体综合征",["19号环状染色体"]],[1444,"环状20号染色体综合征",["环状20号染色体"]],[1445,"环状21号染色体综合征",["环状21号染色体"]],[1446,"环染色体22综合征",["r(22)综合征"]],[1447,"环状4号染色体综合征",["r(4)综合征"]],[1448,"环状6号染色体综合征",["环状6号染色体"]],[1449,"7号环状染色体综合征",["7号环状染色体"]],[1450,"环状8号染色体综合征",["r(8)综合征"]],[1451,"CINCA综合征",["慢性婴儿神经皮肤关节病"]],[1452,"锁骨颅骨发育不良",["锁骨颅骨发育不良"]],[1453,"锁骨肩带综合征",["肢根短缩伴锁骨缺损"]],[1454,"Joubert综合征伴肝缺损",["小脑蚓部发育不良-智力发育不全-先天性共济失调-眼部分缺损-肝纤维化"]],[1455,"常染色体显性主动脉缩窄"],[1456,"非典型主动脉缩窄",["腹主动脉缩窄"]],[1457,"主动脉缩窄"],[1458,"CODAS综合征",["脑-眼-牙-耳-骨骼综合征"]],[1459,"乳糜泻-癫痫-大脑钙化综合征",["CEC"]],[1460,"孤立型III型复合物缺乏症",["孤立型线粒体呼吸链复合物3缺乏症"]],[1461,"交叉心脏",["房室传导交叉"]],[1463,"三房心",["三房心"]],[1464,"单心室心脏",["双出口左心室"]],[1465,"Coffin-Siris综合征",["CSS"]],[1466,"COFS综合征",["脑眼面骨综合征"]],[1467,"Cogan综合征"],[1471,"黄斑缺损-B型短指综合征",["Sorsby综合征"]],[1473,"葡萄膜缺损-唇腭裂-智力障碍三联征"],[1474,"眼底缺损-小眼球-心脏病-听力丧失综合征",["Hittner-Hirsch-Kreh 综合征"]],[1475,"肾-眼底缺损综合征",["视神经缺损伴肾脏疾病"]],[1478,"房间隔缺损",["心房贯通"]],[1479,"房间隔缺损-房室传导障碍综合征"],[1480,"欧洲非罕见：室间隔缺损",["心室贯通"]],[1482,"淋菌性结膜炎"],[1484,"关节挛缩-外胚层发育不良-唇/腭裂综合征",["Ladda-Zonana-Ramer综合征"]],[1485,"关节挛缩-角化过度综合征，致死型",["Johnston-Aarons-Schelley综合征"]],[1486,"致死性先天性关节挛缩综合征1型",["多发性挛缩综合征，芬兰型"]],[1487,"Cooks综合征",["无甲或甲发育不全伴末节指骨发育不全或缺失综合征"]],[1488,"Cooper-Jabs综合征",["耳道闭锁-多发性先天性异常-智力障碍综合征"]],[1489,"百日咳",["百日咳"]],[1490,"角膜营养不良-感音性聋综合征",["角膜营养不良-感音性听力丧失综合征"]],[1492,"弃用：胼胝体发育不全-肾盂输尿管重复畸形-三角头畸形综合征",["Ben Ari-Shuper-Mimouni 综合征"]],[1493,"Vici综合征",["胼胝体发育不全-白内障-免疫缺陷综合征"]],[1495,"智力障碍-胼胝体发育不良-耳前赘综合征",["Da Silva综合征"]],[1496,"胼胝体发育不全-神经元病综合征",["Charlevoix病"]],[1497,"X连锁复杂性胼胝体发育不良"],[1499,"弃用：科-库-松综合征"],[1501,"肾上腺皮质癌"],[1505,"短肋多指(趾)畸形综合征"],[1506,"薄肋-管状骨-外貌畸形综合征",["Sharma-Kapoor-Ramji综合征"]],[1507,"常染色体隐性Robinow综合征",["肋椎节段缺损-肢中综合征"]],[1508,"髋耳综合征"],[1509,"小髌骨综合征",["坐骨-髌骨发育不良"]],[1512,"Crane-Heise综合征"],[1513,"颅骨骨干发育异常"],[1514,"颅-指-智力障碍综合征",["Scott-Bryant-Graham综合征"]],[1515,"颅骨外胚层发育不良",["Sensenbrenner综合征"]],[1516,"颅面骨不连",["双侧人字缝和矢状缝早闭"]],[1517,"多毛性骨软骨发育不良，Cantu型"],[1519,"眼距过宽症，Teebi型",["颅额鼻发育不全，Teebi型"]],[1520,"颅额鼻发育不良",["颅额鼻综合征"]],[1521,"颅额鼻发育不良-波兰异常综合征",["Webster-Deming综合征"]],[1522,"颅骨干骺端发育不全症"],[1524,"小颅骨综合征"],[1525,"颅-骨关节病",["Currarino特发性骨关节病"]],[1526,"弃用：颅缝早闭-骨性连接-高血压性肾病综合征",["Allain-Babin-Demarquez综合征"]],[1527,"颅缝早闭，Philadelphia型"],[1528,"颅端脑发育不良"],[1529,"颅面-耳聋-手综合症",["颅面-听力丧失-手综合症"]],[1530,"弃用：颅缝早闭-白内障综合征"],[1531,"颅缝早闭"],[1532,"Gómez-López-Hernández综合征",["颅缝早闭-脱发-脑缺损综合征"]],[1533,"颅缝早闭-腓骨发育不良综合征",["Lowry综合征"]],[1534,"弃用：Imaizumi型颅缝早闭-桡骨发育不良综合征",["Imaizumi-Kuroki 综合征"]],[1535,"颅缝早闭-外貌畸形-短指综合征",["Glass-Chapman-Hockley综合征"]],[1538,"颅骨早闭-丹迪-沃克畸形-脑积水综合征",["Braddock-Jones-Superneau综合征"]],[1540,"Jackson-Weiss综合征",["颅缝早闭-面中部发育不良-足畸形综合征"]],[1541,"颅缝早闭，波士顿型",["Warman-Mulliken-Hayward 综合征"]],[1544,"良性局灶性青少年癫痫",["青少年良性局灶性癫痫"]],[1545,"Crisponi综合征"],[1546,"隐球菌病"],[1547,"隐性小耳畸形-短指-指尖过度弯曲综合征",["隐性小耳畸形-短指综合征"]],[1548,"隐睾-蜘蛛指-智力障碍综合征",["Van Benthem-Driessen-Hanveld综合征"]],[1549,"隐孢子虫病"],[1551,"家族性良性铜缺乏症",["家族性良性铜缺乏症"]],[1552,"Currarino综合征",["Currarino三联征"]],[1553,"Curry-Jones综合征",["胼胝体发育不全-多指综合征"]],[1555,"回状颅皮-黑棘皮-颅缝早闭综合征",["Beare-Stevenson回状颅皮综合征"]],[1556,"先天性毛细血管扩张性大理石样皮肤",["CMTC"]],[1557,"回状颅皮-智力障碍综合征",["McDowall综合征"]],[1560,"囊虫病"],[1561,"致死性婴儿细胞色素C氧化酶缺乏症",["细胞色素C氧化酶缺乏所致致死性婴儿心脑肌病"]],[1562,"泪囊炎-骨斑点病综合征",["Gunal-Seber-Basaran综合征"]],[1563,"Dahlberg-Borer-Newcomer综合征",["淋巴水肿-甲状旁腺功能减退综合征"]],[1564,"丹迪-沃克畸形-面部血管瘤综合征"],[1566,"Dandy-Walker畸形-轴后性多指综合征",["DWM伴轴后性多指"]],[1568,"X连锁智力障碍-Dandy-Walker畸形-基底神经节疾病-癫痫发作综合征"],[1569,"De Sanctis-Cacchione 综合征",["着色性干皮病伴神经系统表现"]],[1570,"手足指(趾)蹼畸形",["De Smet-Fabry-Fryns 综合征"]],[1571,"Knobloch综合征",["视网膜脱离-枕部脑膨出综合征"]],[1572,"普通变异型免疫缺陷病",["特发性免疫球蛋白缺乏症"]],[1573,"稀毛症伴青少年黄斑变性",["少毛症伴青少年黄斑变性"]],[1574,"视网膜变性-小眼-青光眼综合征",["Mackay-Shek-Carr综合征"]],[1575,"弃用：婴儿纹状体丘脑变性"],[1576,"婴幼儿双侧纹状体坏死",["婴幼儿双侧纹状体变性"]],[1577,"弃用：婴儿丘脑变性"],[1578,"蝶吟-4α-甲醇胺脱氢酶缺乏症",["蝶吟-4α-甲醇胺脱氢酶缺乏所致高苯丙氨酸血症"]],[1580,"10号染色体短臂远端单体",["10号染色体长臂末端着丝粒缺失"]],[1581,"10号染色体长臂非远端单体",["10号染色体长臂非末端着丝粒单体"]],[1587,"单体13q14",["13q14缺失"]],[1590,"13号染色体长臂远端单体",["13号染色体长臂末端着丝粒缺失"]],[1596,"远端单倍体15q",["末端着丝粒15q26缺失综合征"]],[1597,"17号染色体长臂远端单体",["17号染色体长臂末端着丝粒缺失"]],[1598,"18号染色体短臂单体",["De Grouchy综合征"]],[1600,"18号染色体长臂单体",["18q缺失综合征"]],[1606,"1p36缺失综合征",["亚远端着丝粒1p36缺失"]],[1611,"弃用：20号染色体短臂缺失",["20号染色体短臂单体"]],[1617,"2q24微缺失综合征",["2q24单体"]],[1620,"3号染色体短臂远端单体",["3号染色体短臂末端着丝粒单体"]],[1621,"3q13微缺失综合征",["3q13单体"]],[1625,"弃用：4号染色体长臂缺失",["4号染色体长臂单体"]],[1627,"5q35缺失",["5号染色体长臂末端着丝粒缺失"]],[1636,"7q36远端单倍体",["7q36远端单倍体"]],[1642,"9号染色体短臂远端单倍体",["9号染色体短臂远端单倍体"]],[1643,"Xp22.3微缺失综合征",["Xp23缺失"]],[1646,"部分Y染色体缺失",["Y染色体缺失所致男性不育症"]],[1647,"眼-大脑-皮肤综合征",["眼眶囊肿伴脑部及局灶性皮肤畸形"]],[1648,"欧洲非罕见：路易体痴呆",["皮质路易体病"]],[1651,"弃用：Dennis-Cohen综合征"],[1652,"Dent病",["低分子蛋白尿伴高钙尿和肾钙质沉着"]],[1653,"牙本质发育异常",["DD"]],[1654,"弃用：胎生牙-假性肠梗阻-导管未闭综合征"],[1655,"苗勒管发育异常-淋巴管扩张-多指畸形综合征",["Urioste 综合征"]],[1656,"疱疹样皮炎",["Duhring-Brocq病"]],[1657,"皮肤骨质溶解，Kirghizian型"],[1658,"指纹缺失-先天性粟粒疹综合征",["指纹缺失-先天性粟粒疹综合征"]],[1659,"皮肤脑白质营养不良",["皮肤松弛-脑白质营养不良"]],[1660,"皮肤牙体发育不良"],[1661,"X连锁角膜皮样瘤",["角膜上皮营养不良-身材矮小综合征"]],[1662,"限制性皮肤病",["致死性皮肤角化过度-挛缩综合征"]],[1664,"弃用：囊胚分裂综合征"],[1665,"散发性胎儿大脑受损序列"],[1666,"右位心"],[1667,"Wolcott-Rallison综合征",["早发性糖尿病伴多发性骨骺发育不良"]],[1670,"慢性腹泻伴绒毛萎缩"],[1671,"脊髓分裂畸形1型",["脊髓分裂畸形1型"]],[1672,"间脑综合征",["消瘦性间脑综合征"]],[1674,"指-肾-脑综合征",["Eronen-Somer-Gustafsson综合征"]],[1675,"二氢嘧啶脱氢酶缺乏症",["家族性嘧啶血症"]],[1676,"特发性肺动脉扩张"],[1677,"家族性右心房特发性扩张"],[1678,"Dincsoy-Salih-Patel综合征",["面部畸形-两性畸形-垂体功能低下-短肢综合征"]],[1679,"白喉"],[1680,"弃用：痉挛性双侧瘫痪，婴儿型",["Little综合征"]],[1681,"双面畸形",["颅面重复畸形"]],[1682,"动脉夹层-雀斑样痣病综合征"],[1683,"双行睫-先天性心脏缺损-外周血管异常综合征"],[1685,"双盘吸虫病",["吸虫感染"]],[1686,"心脏憩室"],[1692,"1号染色体嵌合三倍体",["嵌合1号染色体三体"]],[1695,"10号染色体长臂非远端三体",["10号染色体长臂非远端重复"]],[1698,"12号染色体嵌合三倍体",["嵌合12号染色体三体"]],[1699,"12号染色体短臂三体",["12号染色体短臂重复"]],[1702,"13号染色体长臂非远端三体",["13号染色体长臂非远端重复"]],[1703,"14号染色体嵌合三体",["14号染色体嵌合三体"]],[1705,"14号染色体长臂远端三体",["14号染色体长臂末端着丝粒重复"]],[1706,"15号染色体嵌合三倍体",["嵌合15号染色体三体"]],[1707,"15号染色体长臂远端三体",["Distal duplication 15q"]],[1708,"16号染色体嵌合三倍体",["嵌合16号染色体三体"]],[1711,"17号染色体嵌合三倍体",["嵌合17号染色体三体"]],[1713,"17p11.2 微重复综合征",["Potocki-Lupski综合征"]],[1715,"18号染色体短臂三体",["18号染色体短臂重复"]],[1716,"18号染色体长臂远端三体",["18号染色体长臂远端重复"]],[1717,"19号染色体长臂远端三体",["19号染色体长臂末端着丝粒重复"]],[1723,"2号染色体嵌合三体",["2号染色体嵌合三体"]],[1724,"20号染色体嵌合三体",["20号染色体嵌合三体"]],[1727,"22q11.2微重复综合征",["22q11.2重复"]],[1738,"4号染色体短臂三体",["4号染色体短臂三体"]],[1739,"弃用：4号染色体长臂重复",["4号染色体长臂三体"]],[1742,"5号染色体短臂三体",["5号染色体短臂三体"]],[1745,"6号染色体短臂远端三体",["6号染色体短臂末端着丝粒重复"]],[1747,"7号染色体嵌合三体",["7号染色体嵌合三体"]],[1752,"8号染色体长臂三体",["8号染色体长臂重复"]],[1756,"尾重复综合症",["脊索分裂综合征"]],[1757,"腓骨重复畸形-重复足综合征",["腓骨重复畸形-重复足综合征"]],[1759,"胸腹小肠重复畸形"],[1762,"Xq28三体",["X染色体长臂末端着丝粒重复"]],[1764,"家族性自主神经功能异常",["遗传性感觉和自主神经病III型"]],[1765,"软骨生成障碍-肾炎综合征"],[1766,"平衡感觉紊乱综合征",["小脑共济失调-智力障碍-平衡感觉紊乱综合征"]],[1767,"家族性进行性前庭耳蜗功能障碍"],[1768,"家族性尾骨发育不良",["Rudd-Klimek 综合征"]],[1770,"XY型性腺发育不良相关异常综合征"],[1772,"45,X/46,XY混合性腺发育不全",["45,X/46,XY混合性腺发育不全"]],[1773,"骶尾骨联合发育不全"],[1775,"先天性角化不良",["Zinsser-Engman-Cole综合征"]],[1777,"Temtamy综合征",["颅面畸形-眼部缺损-胼胝体发育不全综合征"]],[1778,"面部畸形-披巾阴囊-关节松弛综合征",["Seaver-Cassidy 综合征"]],[1779,"外貌畸形-腭裂-皮肤松弛综合征"],[1780,"Thakker-Donnai综合征",["畸形-多发性结构畸形综合征"]],[1782,"骨硬化性发育不全"],[1784,"肢端-前额-面-鼻骨发育不全",["Richieri-Costa-Colletto综合征"]],[1786,"肢端-面骨发育不全，Catania型",["Opitz-Caltabiano综合征"]],[1787,"面骨发育不全，Palagonia型"],[1788,"肢端-面骨发育不全，RodrÝguez型"],[1789,"颅面骨发育不全-关节挛缩-早衰综合征",["Van Biervliet-Hendrickx-van Ertbruggen 综合征"]],[1790,"下颌面颅骨发育不良"],[1791,"额面鼻发育不良",["Gollop综合征"]],[1792,"脊椎骨骺发育不良伴先天性关节脱臼"],[1794,"眼-上颌-面骨发育不良",["Richieri-Costa-Gorlin综合征"]],[1795,"周围性骨发育不全"],[1797,"常染色体显性遗传脊椎肋骨发育不全",["常染色体显性遗传性脊椎肋骨发育不全"]],[1798,"骨发育不全，Stanescu型",["颅面骨发育不良-骨干增生综合征"]],[1799,"家族性发育性语言障碍",["Billard-Toutain-Maheut综合征"]],[1800,"弃用：颅-面-颈骨雕刻样发育不良",["Bazopoulou-Kyrkanidou综合征"]],[1801,"脊柱后凸发育不良"],[1802,"Ghosal造血长骨骨干发育不全",["骨干发育不全-贫血综合征"]],[1803,"胸骨发育不良",["胸肢畸形，Rivera型"]],[1804,"节段性发育不良-青光眼综合征"],[1806,"外胚层发育不良-失明综合征"],[1807,"局灶性面部皮肤发育不良III型",["局灶性面部皮肤发育不良III型，Setleits型"]],[1808,"有汗型外胚层发育不良，Christianson-Fourie型",["Christianson-Fourie综合征"]],[1809,"有汗型外胚层发育不良，Halal型",["毛发发育不全-皮纹异常-智力障碍综合征"]],[1810,"常染色体显性遗传少汗性外胚层发育不良",["常染色体显性遗传无汗性外胚层发育不良"]],[1811,"牙-小甲发育不良"],[1812,"外胚层发育不良-智力障碍-中枢神经系统畸形综合征"],[1816,"白斑黑皮病-幼稚型-智力障碍-缺牙-稀毛综合征",["Berlin综合征"]],[1818,"外胚层发育不良，毛发牙齿型"],[1819,"弃用：上干骺端骨发育不良"],[1822,"半肢畸形骨骺发育异常",["Trevor病"]],[1823,"弃用：局限性骨骺发育异常"],[1824,"Lowry-Wood综合征",["骨骺发育不良-小头畸形-眼球震颤综合征"]],[1825,"骨骺发育异常-听觉丧失-外貌畸形综合征",["骨骺发育不良-耳聋-畸形综合征"]],[1826,"额骨干骺端结构不良"],[1827,"肢端额鼻发育不良",["肢端额鼻骨发育不全"]],[1830,"Schimke免疫性骨发育不良",["脊柱骨骺发育不良-肾病综合征"]],[1831,"De Hauwere综合征",["虹膜发育不良-眼距过宽-听力丧失综合征"]],[1832,"致死性骨硬化性骨发育不良",["Raine综合征"]],[1834,"轴中胚层发育不良谱系",["Russell-Weaver-Bull综合征"]],[1836,"肢中骨发育不良，Kantaputra型",["肢中发育不良，Thai型"]],[1837,"尺骨干骺端发育不良综合征",["Rosenberg-Lohr综合征"]],[1838,"干骺端发育不良不伴毛发稀少",["软骨-毛发发育不全样骨骼发育不全不伴少毛综合征"]],[1839,"遗传性粘膜上皮发育异常",["Urban-Schosser-Spohn综合征"]],[1842,"骨发育不良，致死性Holmgren型",["常染色体隐性致死性软骨发育不良，圆形股骨下骨骺型"]],[1844,"弃用：Azouz型骨发育不良"],[1848,"肾缺如，双侧"],[1849,"弃用：肾盂肾下盏漏斗狭窄-多囊肾综合征"],[1850,"肾发育不良-巨膀胱-并腿畸形综合征",["Selig-Benacerraf-Greene综合征"]],[1851,"多囊性肾发育不良",["多囊性肾发育不良"]],[1852,"X连锁视网膜发育不良"],[1855,"脊柱内生软骨瘤发育不良",["脊椎干骺端发育不良伴内生软骨瘤改变"]],[1856,"脊柱周边发育不全-短尺骨综合征"],[1858,"骨骼发育不良-癫痫-身材矮小综合征",["Gurrieri-Sammito-Bellussi综合征"]],[1860,"致死性骨发育不全1型",["致死性侏儒症1型"]],[1861,"胸廓发育不良-脑积水综合征"],[1863,"欧洲非罕见：滑车神经发育不良",["股骨滑车沟功能不全"]],[1864,"弃用：先天性瓣膜异常"],[1865,"节段性发育异常，Silverman-Handmaker型"],[1866,"局灶性、节段性或多灶性肌张力障碍"],[1867,"遗传性大疱性营养不良，斑点型"],[1871,"进行性视锥细胞营养不良",["锥体营养不良"]],[1872,"遗传性视锥视杆细胞营养不良"],[1873,"Jalili综合征",["锥杆营养不良性-釉质发育不全综合征"]],[1875,"先天性肌营养不良-婴儿白内障-性腺机能减退综合征",["Bassoe综合征"]],[1876,"眼肠肌营养不良",["内脏肌病-家族性眼外肌麻痹"]],[1877,"肌营养不良-白质海绵状硬化综合征"],[1878,"TRIM32相关肢带型肌营养不良症R8型",["常染色体隐性肢带型肌营养不良症2H型"]],[1879,"肢骨纹状肥大伴全身脆性骨硬化",["混合型骨硬化性营养不良"]],[1880,"埃布斯坦畸形",["三尖瓣Ebstein畸形"]],[1882,"少汗性外胚层发育不良-甲状腺功能减退-纤毛运动异常综合征",["ANOTHER综合征"]],[1883,"外胚层发育不良-感音神经性耳聋综合征",["外胚层发育不良-感音神经性耳聋综合征"]],[1884,"晶状体脱位-脉络膜视网膜营养不良-近视综合征",["Noble-Bass-Sherman综合征"]],[1885,"孤立型晶状体异位",["家族性晶体异位"]],[1888,"缺指（趾）-外胚层发育不良不伴腭裂综合征",["无唇腭裂的EEC综合征"]],[1889,"缺指（趾）-腭裂综合征",["ECP综合征"]],[1891,"智力障碍-痉挛-缺指（趾）综合征",["Jancar综合征"]],[1892,"缺指（趾）-多指（趾）综合征"],[1894,"缺指畸形-脊柱裂-心脏病综合征",["Kasznica-Carlson-Coppedge 综合征"]],[1895,"Edinburgh畸形综合征",["Edinburgh遗传型"]],[1896,"外胚层发育不良型缺指畸形伴唇裂/腭裂综合征",["缺指（趾）畸形-外胚层发育不良-唇裂/腭裂综合征"]],[1897,"外胚层发育不良、缺指（趾）畸形和黄斑营养不良综合征",["外胚层发育不良-缺指（趾）畸形-黄斑营养不良综合征"]],[1899,"关节松弛型Ehlers-Danlos综合征",["Ehlers-Danlos综合征关节松弛型"]],[1900,"赖氨酰羟化酶1缺乏所致脊柱后侧凸型Ehlers-Danlos syndrome",["赖氨酸羟化酶缺乏EDS"]],[1901,"皮肤脆裂症型Ehlers-Danlos综合征",["人皮肤脆裂症型EDS VIIIC"]],[1902,"埃里希体病"],[1906,"胎儿丙戊酸盐综合征",["胎儿丙戊酸综合征"]],[1908,"氨基蝶呤/甲氨蝶呤胚胎胎儿病",["氨基蝶呤胚胎病综合征"]],[1909,"吲哚美辛胚胎胎儿病",["胎儿吲哚美辛综合征"]],[1910,"胎儿碘综合征"],[1911,"可卡因胚胎胎儿病",["胎儿可卡因综合征"]],[1912,"胎儿乙内酰脲综合征",["胎儿双乙内酰脲综合征"]],[1913,"胎儿三甲双酮综合征"],[1914,"维生素K拮抗剂胎儿胚胎病",["维生素K拮抗剂胚胎病"]],[1915,"胎儿酒精综合征",["酒精相关性神经发育障碍"]],[1916,"己烯雌酚综合征",["己烯雌酚胎儿胚胎病"]],[1917,"胎儿甲基汞综合征",["产前甲基汞感染"]],[1918,"胎儿米诺地尔综合征",["米诺地尔所致产前感染"]],[1919,"苯巴比妥胚胎病"],[1920,"甲苯胚胎病"],[1923,"甲巯咪唑胚胎胎儿病",["甲巯咪唑/卡比马唑胚胎胎儿病"]],[1926,"糖尿病性胚胎病"],[1927,"Emery-Nelson综合征",["手足畸形-坪相综合征"]],[1928,"先天性肺叶气肿",["先天性肺叶气肿"]],[1929,"Rasmussen亚急性脑炎",["Rasmussen综合症"]],[1930,"单纯疱疹病毒性脑炎",["单纯疱疹病毒性脑膜脑炎"]],[1931,"额部脑疝",["前部脑疝"]],[1933,"线粒体DNA耗竭综合征，脑肌病伴甲基丙二酸尿症型",["线粒体脑肌病-氨基酸代谢病综合征"]],[1934,"早期幼儿癫痫性脑病",["早期婴儿癫痫性脑病伴抑制-爆发"]],[1935,"早期肌阵挛性脑病",["早期肌阵挛脑病伴抑制-爆发"]],[1937,"Eng-Strom综合征",["身材矮小-指交锁综合征"]],[1939,"弃用：马提尼克矛头蝮螫刺中毒",["马提尼克矛头蝮螫刺中毒"]],[1940,"肩胸畸形-先天性心脏病综合征"],[1941,"青少年失神癫痫",["JAE"]],[1942,"肌阵挛性无定向癫痫",["幼儿早期出现的肌阵挛-站立不能发作"]],[1943,"早发进行性脑病伴不定向型肌痉挛"],[1945,"运动性癫痫",["良性家族性儿童癫痫伴运动区棘波"]],[1946,"釉质形成-脑-少汗综合征",["癫痫-痴呆-牙釉质形成不良综合征"]],[1947,"渐进性癫痫-智障综合征，芬兰型",["北方癫痫变异型神经元蜡样质脂褐质沉积症8型"]],[1948,"癫痫-小头畸形-骨骼发育不良综合征",["Battaglia-Neri综合征"]],[1949,"良性家族性新生儿癫痫",["良性家族性新生儿抽搐"]],[1951,"癫痫-毛细血管扩张综合征"],[1952,"Pacman发育不良",["点彩性骨骺综合征-破骨细胞增生综合征"]],[1954,"先天性致死性红皮病"],[1955,"脊髓小脑共济失调34型",["脊髓小脑共济失调和红斑角化病"]],[1956,"弃用：红斑性肢痛症"],[1957,"鼻腔神经胶质瘤",["嗅神经母细胞瘤"]],[1959,"Evans综合征",["自身免疫性溶血性贫血伴自身免疫性血小板减少"]],[1962,"外生骨疣-皮肤松垂-侏儒-短指（趾）综合征E型"],[1964,"早搏-身材矮小-色素沉着-小头畸形综合征",["Char-Douglas-Dungan综合征"]],[1968,"扁平面-小口畸形-耳部异常综合征",["睑裂狭小-内眦距过宽-小口畸形综合征"]],[1969,"面部畸形-厌食-恶病质-眼和皮肤异常综合征",["Friedman-Goodman综合征"]],[1970,"面部畸形-大头-近视-Dandy-Walker畸形综合征"],[1972,"致死性面-心发育不良"],[1973,"面心肾综合征",["Eastman-Bixler综合征"]],[1974,"常染色体隐性遗传面-指-生殖器综合征",["面-指-生殖器综合征，Kuwait型"]],[1979,"肽生长因子缺乏所致脂质营养不良",["胰岛素、胰岛素样生长因子1（IGF1）和表皮生长因子（EGF）联合缺乏"]],[1980,"双侧纹状体-苍白球-齿状核钙化",["特发性基底神经节钙化症"]],[1981,"范可尼综合征-鱼鳞病-畸形综合征",["Deal-Barrat-Dillon综合征"]],[1983,"欧洲非罕见：慢性疲劳综合征",["慢性疲劳免疫功能障碍综合征"]],[1984,"Fechtner综合征",["Alport综合征伴白细胞包涵体和巨血小板减少症"]],[1986,"Gollop-Wolfgang综合征",["股骨裂-单指（趾）缺指（趾）综合征"]],[1987,"股骨缺如/发育不全",["股骨中间残肢"]],[1988,"股-面综合征",["股骨发育不良-特殊面容综合征"]],[1991,"唇裂伴或不伴腭裂",["Tessier裂1，2型"]],[1993,"Pai综合征",["上唇人中区裂-胼胝体发育不良-面中线部位皮肤性息肉综合征"]],[1995,"唇裂-视网膜病变综合征",["唇裂-进展型视网膜病变综合征"]],[1997,"眼睑-上唇-牙齿综合征",["下眼睑外翻-唇腭裂综合征"]],[2001,"唇/腭裂-肠旋转不良-心脏病综合征",["McPherson-Clemens综合征"]],[2003,"唇/腭裂-耳聋-骶脂肪瘤综合征",["唇/腭裂-耳聋-骶脂肪瘤综合征"]],[2004,"喉气管食管裂",["喉-气管-食管间隙"]],[2005,"弃用：喉-气管-食管裂口-肺发育不良综合征",["Novak综合征"]],[2006,"正中唇裂/下颌裂",["面下部正中裂"]],[2007,"鼻翼软骨发育不全-缺损-眼距过宽综合征"],[2008,"Acrocardiofacial综合症",["腭裂-心脏缺陷-生殖器-缺指（趾）畸形综合症"]],[2010,"腭裂-镫骨固定-少牙畸形综合征"],[2013,"腭裂-大耳-小头畸形综合征",["Say-Barber-Hobbs 综合征"]],[2014,"腭裂"],[2015,"腭裂-身材矮小-椎骨畸形综合征",["Mathieu-De Broca-Bony 综合征"]],[2016,"腭裂-外侧虹膜粘连综合征",["CPLS 综合征"]],[2017,"胸骨裂",["对裂胸骨"]],[2019,"股骨腓骨尺骨复合体",["股骨腓骨尺骨发育障碍"]],[2020,"先天性肌型比例失调肌病",["CFTDM"]],[2021,"纤维软骨增生"],[2022,"心内膜弹力纤维增生症",["心内膜心肌弹力纤维增生症"]],[2023,"未分化多形性肉瘤",["UPS"]],[2024,"遗传性牙龈纤维瘤病",["常染色体显性遗传牙龈纤维瘤病"]],[2025,"牙龈纤维瘤病-面部先天性畸形综合征"],[2026,"牙龈纤维瘤病-多毛综合征",["多毛症伴或不伴牙龈增生"]],[2027,"牙龈纤维瘤病-进行性耳聋综合征",["牙龈纤维瘤病-进行性耳聋综合征"]],[2028,"幼年性透明性纤维瘤病",["Murray-Puretic-Drescher综合征"]],[2029,"多发性非骨化性纤维瘤病",["Jaffe-Campanacci综合征"]],[2030,"纤维肉瘤"],[2031,"肝纤维化-肾囊肿-智力障碍综合征",["Thompson-Baraitser综合征"]],[2032,"特发性肺纤维化",["隐原性致纤维化性肺泡炎"]],[2033,"弃用：多灶性肌肉纤维化-血管阻塞综合征"],[2034,"丝虫病"],[2035,"淋巴性丝虫病"],[2036,"头皮-耳朵-乳头综合征",["Finlay-Marks 综合征"]],[2037,"先天性主肺动脉窗",["先天性主肺动脉瘘"]],[2038,"肺动静脉畸形",["PAVM"]],[2039,"先天性体循环动静脉瘘"],[2040,"先天性呼吸道-胆道瘘"],[2041,"冠状动脉瘘"],[2042,"弃用：气管-食管瘘-尿道下裂综合征"],[2044,"Floating-Harbor综合征"],[2045,"FLOTCH 综合征",["全白甲-外毛根鞘囊肿-睫状体营养不良综合征"]],[2047,"Flynn-aird综合征"],[2048,"Foix-Chavany-Marie综合征",["面-咽-舌双侧随意运动障碍伴自发性-随意性运动分离"]],[2050,"Cole-Carpenter综合征",["脆性骨-颅缝早闭-突眼-脑积水综合征"]],[2051,"类弗雷泽综合征,类隐眼畸形"],[2052,"Fraser综合征",["隐眼并指综合征"]],[2053,"Freeman-Sheldon 综合征",["远端关节弯曲2A型"]],[2054,"弃用：踝骨/趾骨骨软骨炎"],[2055,"发育不足-短指（趾）-畸形综合征",["Frias综合征"]],[2056,"特发性果糖尿",["己酮糖(磷酸)激酶缺乏"]],[2057,"睑裂狭小-上睑下垂-内斜视-并指(趾)-身材矮小综合征",["Frydman-Cohen-Karmon 综合征"]],[2058,"Fryns-Smeets-Thiry综合征"],[2059,"Fryns综合征",["Fryns综合征"]],[2060,"Fukuda-Miyanomae-Nakata综合征"],[2062,"进行性非感染性前椎骨融合",["哥本哈根综合征"]],[2063,"脾生殖腺融合-肢体缺陷-小颌畸形综合征",["SGFLD综合征"]],[2064,"腰骶椎后路融合-睑下垂综合征",["Faulk-Epstein-Jones 综合征"]],[2065,"Galloway-Mowat综合征",["小脑畸形-食管裂孔疝-肾病综合征"]],[2066,"γ-氨基丁酸转氨酶缺乏",["γ-氨基丁酸转氨酶缺乏"]],[2067,"GAPO综合征",["生长延迟-脱发-埋伏牙-视神经萎缩综合征"]],[2069,"胃皮肤综合征"],[2070,"嗜酸细胞性胃肠炎",["嗜酸细胞性胃小肠结肠炎"]],[2072,"戈谢病-眼肌麻痹-心血管钙化综合征",["心血管型戈谢病"]],[2073,"发作性睡病1型",["发作性睡病-猝倒"]],[2074,"Gemignani综合征",["脊髓小脑共济失调-肌萎缩-听力损失综合征"]],[2075,"Genitopalatocardiac综合征",["Gardner-Silengo-Wachtel综合征"]],[2076,"X-连锁智力残疾-癫痫综合征"],[2077,"German综合征",["German综合征"]],[2078,"骨发育不良性老年状皮肤"],[2081,"大脑性巨人症-颌囊肿综合征",["Cramer-Niederdellmann综合征"]],[2083,"眉间突出-小头畸形-性腺功能减退综合征",["MacDermot-Winter综合征"]],[2084,"青光眼-晶状体异位-小球形晶状体-关节僵硬-身材矮小综合征",["GEMSS综合征"]],[2085,"青光眼-睡眠呼吸暂停综合征"],[2086,"视路胶质瘤"],[2087,"肾小球性肾炎-头发稀疏-毛细血管扩张综合征"],[2088,"Fanconi-Bickel综合征",["GLT2缺乏所致糖原病"]],[2089,"肝脏糖原合酶缺乏所致糖原贮积症",["肝脏糖原合酶缺乏所致糖原贮积症"]],[2090,"GMS综合征",["前房角发育不全-智力障碍-身材矮小综合征"]],[2091,"多结节甲状腺肿-囊性肾-多指(趾)畸形综合征",["甲状腺-肾-指(趾)异常"]],[2092,"局灶性皮肤发育不全",["Goltz-Gorlin 综合征"]],[2095,"Gorlin-Chaudhry-Moss综合征",["牙眼异常-动脉导管未闭-智力正常综合征"]],[2097,"Grant综合征"],[2098,"肢端肢中发育不全，Grebe型",["软骨发育不全Grebe型"]],[2099,"弃用：Grix-Blankenship-Peterson综合征",["颅面和骨缺陷-智力障碍综合征"]],[2101,"Grubben-de Cock-Borghgraef综合征",["发育迟缓-张力过低-四肢肥大综合征"]],[2102,"GTP环化水解酶I缺乏症",["GTP环化水解酶缺乏致高苯丙氨酸血症"]],[2103,"吉兰巴雷综合征",["Guillain-Barré-Strohl综合征"]],[2104,"外貌畸形-鸡胸-关节松弛综合征",["Guízar Vázquez-Sánchez-Manzano综合征"]],[2107,"Hall-Riggs综合征"],[2108,"Hallermann-Streiff综合征",["Hallermann-Streiff综合征"]],[2109,"类Hallermann-Streiff综合征",["Hallermann-Streiff-François综合征严重型"]],[2110,"拇内翻-轴前多指（趾）综合征",["Kleiner-Holmes综合征"]],[2111,"肺和肾囊性错构瘤",["Graham-Boyle-Troxell综合征"]],[2112,"弃用：毛囊错构瘤-脱发-囊性纤维化综合征"],[2113,"先天性下丘脑性错构瘤综合征",["CHHS"]],[2114,"髋关节发育不良，Beukes型",["髋关节发育不良，Beukes型"]],[2115,"Harrod综合征",["颅-面-指-生殖器综合征"]],[2116,"Hartnup病",["氨基酸尿症，Hartnup型"]],[2117,"Hartsfield综合征",["前脑无脑畸形-先天性缺指畸形-唇腭裂综合征"]],[2118,"Hawkinsinuria症",["4-α-羟基苯丙酮酸羟化酶缺乏症"]],[2119,"HEC综合征",["脑积水-心内膜弹力纤维增生症-白内障综合征"]],[2120,"弃用：Heckenlively综合征"],[2122,"卡波济型血管内皮瘤"],[2123,"弥漫性新生儿血管瘤病"],[2124,"面部海绵状血管瘤-脐上中线裂综合征"],[2125,"骶血管瘤-多发先天畸形综合征"],[2126,"孤立性纤维瘤/血管外皮细胞瘤",["SFT/HPC"]],[2128,"孤立型偏侧发育过度",["孤立型偏身肥大症"]],[2129,"偏侧发育过度-肠道粘连-角膜斑综合征",["HIPO综合征"]],[2130,"半肢畸形",["纵向残肢"]],[2131,"儿童交替性偏瘫",["AHC"]],[2132,"血红蛋白C病"],[2133,"血红蛋白E病"],[2134,"非典型溶血尿毒综合征",["非典型HUS"]],[2135,"Hennekam-Beemer综合征",["肥大细胞增生症-身材矮小-听觉丧失综合征"]],[2136,"Hennekam综合征",["淋巴水肿-淋巴管扩张-智力障碍综合征"]],[2137,"自身免疫性肝炎",["AIH"]],[2138,"46,XX 卵睾两性畸形",["46,XX卵睾型DSD"]],[2139,"Hernßndez-Aguirre Negrete综合征",["智力障碍-癫痫-蒜头鼻综合征"]],[2140,"先天性膈疝",["CDH"]],[2141,"膈肌缺损-肢体残缺-颅骨缺损综合征",["Froster-Huch综合征"]],[2143,"Donnai-Barrow综合征",["眼面异常综合征，内眦距过宽和听力损失综合征"]],[2145,"颅缝早闭，Herrmann-Opitz型"],[2148,"双皮质素基因突变所致无脑回畸形I型",["X-连锁遗传无脑回畸形1型"]],[2149,"结节状神经元异位"],[2150,"先天性巨结肠-短指（趾）症D型综合征"],[2151,"先天性巨结肠-节细胞神经母细胞瘤综合征"],[2152,"Mowat-Wilson综合征",["多毛症-智力障碍综合征"]],[2153,"先天性巨结肠-指甲发育不全-畸形综合征",["Al Gazali-Donnai-Muller综合征"]],[2155,"先天性巨结肠- 聋-多指（趾）畸形综合征",["多毛症-听力损失-多指（趾）畸形综合征"]],[2156,"弃用：多毛-骨骼发育不良-智力障碍综合征",["Wiedemann-Oldigs-Oppermann综合征"]],[2157,"组氨酸血症",["组氨酸氨基裂合酶缺乏"]],[2158,"组氨酸尿-肾小管缺陷综合征"],[2161,"弃用：无定形无心寄生胎畸胎"],[2162,"前脑无裂畸形",["HPE"]],[2163,"前脑无裂畸形-颅缝早闭综合征",["Camero-Lituania-Cohen综合征"]],[2165,"前脑无裂畸形-尾椎发育不全综合征"],[2166,"前脑无裂畸形-轴后性多指（趾）综合征",["假性13三体综合征"]],[2167,"Holzgreve综合征",["Holzgreve-Wagner-Rehder综合征"]],[2168,"高肌肽病",["高肌肽酶缺乏症"]],[2169,"甲基钴胺素缺陷，cblE型",["功能性蛋氨酸合成酶缺乏cbIE型"]],[2170,"甲基钴胺素缺乏症cblG型",["功能性甲基钴胺素缺乏症cblG型"]],[2172,"小头畸形- 肾小球性肾炎-马方综合征样体型综合征"],[2174,"Hunter-Carpenter-McDonald综合征"],[2176,"婴儿全身性玻璃样变性"],[2177,"积水型无脑畸形"],[2180,"脑积水-肋椎的发育不良-Sprengel异常综合征",["Ferlini-Ragno-Calzolari综合征"]],[2181,"脑积水-高身材-关节松弛综合征",["Daish-Hardman-Lamont综合征"]],[2182,"脑积水伴中脑导水管狭窄",["X连锁中脑导水管狭窄"]],[2183,"脑积水-肥胖-性腺功能减退综合征",["Sengers-Hamel-Otten综合征"]],[2184,"脑积水-低插入脐综合征",["Palmer-Pagon 综合征"]],[2185,"先天性脑积水"],[2186,"脑积水-蓝巩膜-肾病综合征",["Daentl-Townsend-Siegel综合征"]],[2189,"水中毒"],[2190,"弃用：先天性肾盂积水"],[2194,"抗HLA超免疫"],[2195,"二羧基氨基酸尿症",["谷氨酸天冬氨酸转运子缺乏"]],[2196,"家族性原发性低镁症伴高钙尿和肾钙质沉着症伴严重眼部受累",["高钙尿-双眼黄斑缺损综合征"]],[2197,"特发性高钙尿症"],[2198,"掌跖角化病-食管癌综合征",["表皮松解性角化过度症-食管癌综合征"]],[2199,"表皮松解性掌跖角化病",["弥散性红皮病型掌跖角化病Voerner型"]],[2200,"局灶性掌跖和牙龈角化病",["局限性掌跖和齿龈角化过度"]],[2201,"掌跖角化病-痉挛性麻痹综合征",["表皮松解性角化过度症-痉挛型瘫痪综合征"]],[2202,"掌跖角化病- 聋综合征",["表皮松解性角化过度症-听力损失综合征"]],[2203,"高赖氨酸血症",["赖氨酸α酮戊二酸还原酶缺乏性疾病"]],[2204,"皮质发育不全性骨肥厚",["Kozlowski-Tsuruta 综合征"]],[2206,"强直性椎体肥大伴胼胝形成"],[2207,"家族性原发性甲状旁腺功能亢进症"],[2209,"母体苯丙酮尿症",["高苯丙酮尿酸血症型胚胎病"]],[2211,"器官间距过远-尿道下裂-多并指（趾）畸形综合征",["骨发育不全2型"]],[2213,"器官间距过远-小耳症-面部裂综合征",["Bixler-Christian-Gorlin综合征"]],[2215,"多发性翼状胬肉-恶性高热综合征",["恶性高热-关节挛缩-斜颈综合征"]],[2216,"母源性过高热引起出生缺陷"],[2218,"颈部多毛-周围神经病变综合征"],[2220,"肘部多毛症",["MacDermot-Patton-Williams综合征"]],[2221,"获得性胎毛增多症"],[2222,"先天性多毛柔毛症",["全身性多毛症"]],[2224,"高色氨酸血症"],[2227,"欧洲非罕见：牙发育不全",["牙发育不全"]],[2228,"牙发育不全-指甲发育不良综合征",["牙发育不全-指甲发育不良综合征"]],[2229,"扩张型心肌病-高促性腺激素性性腺功能减退综合征",["心-生殖器综合征"]],[2230,"低促性腺激素性性腺功能减退-额顶脱发综合征",["Salti-Salem 综合征"]],[2232,"原发性高促性腺激素性性腺功能减退-局部脱发综合征",["Al Awadi-Farag-Teebi 综合征"]],[2233,"性腺功能减退-二尖瓣脱垂-智力障碍综合征",["Cantalamessa-Baldini-Ambrosi综合征"]],[2234,"男性高促性腺激素性性腺功能减退-智力障碍-骨骼异常综合征",["Sohval-Soffer 综合征"]],[2235,"低促性腺激素性性腺功能减退-视网膜色素变性综合症",["Chang-Davidson-Carlson综合症"]],[2237,"甲状旁腺功能减退-感音神经性耳聋-肾功能障碍",["甲状旁腺功能减退-感音神经性听力损失-肾脏病综合征"]],[2238,"家族性孤立性甲状旁腺功能减退"],[2239,"家族性孤立性甲状旁腺功能减退所致甲状旁腺发育不全"],[2241,"巨膀胱-小结肠-肠蠕动迟缓综合征",["巨膀胱-小结肠-肠蠕动迟缓-肾盂积水综合征"]],[2243,"垂体机能减退-小阴茎-唇/腭裂综合征"],[2244,"垂体功能减退-小眼畸形综合征",["Kaplowitz-Bodurtha综合征"]],[2245,"弃用：垂体机能减退-轴后性多指（趾）综合征"],[2246,"小脑发育不良-毯层视网膜变性综合征"],[2248,"左心发育不良综合征",["HLHS"]],[2249,"尺骨发育不全-智力障碍综合征"],[2250,"嗅觉减退-鼻和眼发育不全-低促性腺激素性性腺功能减退综合征",["Bosma无鼻畸形-小眼畸形综合征"]],[2251,"拇指畸形-脱发-色素沉着异常综合征",["稀毛症-身材矮小-皮肤畸形综合征"]],[2252,"桡骨发育不全-拇指三指节畸形-尿道下裂-上颌骨纵裂综合征",["Schmitt-Gillenwater-Kell综合征"]],[2253,"中央凹发育不全-早老性白内障综合征",["O'Donnell-Pappas综合征"]],[2254,"脑桥小脑发育不全1型",["Norman 病"]],[2255,"胰腺发育不全-糖尿病-先天性心脏病综合征",["Yorifuji-Okuno综合征"]],[2256,"腓骨-尺骨发育不良肾功能异常综合征",["Saito-Kuba-Tsuruta综合征"]],[2257,"原发性肺发育不良"],[2260,"肾小球巨大稀少症",["肾单位过少性肾发育不全"]],[2261,"小儿尿道下裂-智力障碍Goldblatt型综合征",["Goldblatt-Wallis 综合征"]],[2266,"少毛症-智力障碍Lopes型",["Lopes-Marques de Faria综合征"]],[2267,"弃用：鱼鳞病-面颊-眉毛综合征",["Sidransky-Feinstein-Goodman 综合征"]],[2268,"ICF综合征",["免疫缺陷-着丝粒不稳定-面部异常综合征"]],[2269,"鱼鳞病-脱发-唇外翻-眼睑外翻-智力障碍综合征",["Jagell-Holmgren-Hofer综合征"]],[2271,"先天性鱼鳞病-小头畸形-四肢麻痹综合征",["先天性鱼鳞病-小头畸形-四肢麻痹综合征"]],[2272,"鱼鳞病-口指畸形综合征",["Clayton Smith-Donnai综合征"]],[2273,"毛囊性鱼鳞病-脱发-畏光综合症",["毛囊性鱼鳞病-脱发-畏光综合症"]],[2274,"鱼鳞病-肝脾肿大-小脑退化综合征",["Dykes-Marks-Harper综合征"]],[2278,"鱼鳞病-智力障碍-侏儒症-肾损害综合征",["Passwell-Goodman-Siprkowski 综合征"]],[2282,"先天性畸形-身材矮小-耳聋-性发育障碍综合征",["Ieshima-Koeda-Inagaki综合征"]],[2284,"弃用：原发性T细胞免疫缺陷病"],[2285,"原发性颅底凹陷症",["Bull-Nixon综合征"]],[2286,"弃用：上颌正中孤立中切牙综合征",["单上颌中切牙"]],[2287,"下颌切牙融合"],[2289,"神经元核内包涵体病"],[2290,"微绒毛包涵体病",["微绒毛包涵体病"]],[2291,"先天性腭咽闭合不全"],[2292,"先天性长骨弯曲"],[2295,"家族遗传性关节运动过度综合征",["家族性关节不稳定综合征"]],[2297,"胰岛素抵抗综合征A型"],[2298,"胰岛素抵抗综合征B型"],[2299,"主动脉弓离断"],[2300,"多发性肠闭锁",["家族性肠息肉综合征"]],[2301,"先天性短肠综合征"],[2302,"石棉中毒",["石棉肺"]],[2305,"异维甲酸综合征",["维甲酸胚胎病"]],[2306,"类异维甲酸综合征",["小耳畸形-主动脉弓综合征"]],[2307,"IVIC 综合征",["桡侧序列缺损，听力障碍，眼外肌麻痹和血小板减少症"]],[2308,"Jacobsen综合征",["11号染色体长臂远端端粒缺失"]],[2309,"先天性厚甲症",["PC"]],[2310,"腿-白内障综合征缺失畸形"],[2311,"常染色体隐性脊椎肋骨发育不良",["Jarcho-Levin综合征"]],[2312,"短暂性家族性新生儿高胆红素血症",["Lucey-Driscoll综合征"]],[2314,"常染色体显性高IgE综合征",["高IgE-反复感染综合征"]],[2315,"Johanson-Blizzard综合征",["JBS"]],[2316,"Johnson神经外胚层综合征",["脱发-嗅觉缺失-传导性听力损失-性腺功能减退综合征"]],[2318,"Joubert综合征伴肾眼缺损",["Joubert综合征伴Senior-Loken综合征"]],[2319,"Juberg-Hayward综合征",["唇腭裂-拇指异常-小头畸形综合征"]],[2321,"Jung综合征"],[2322,"歌舞伎综合征",["Kabuki make-up syndrome","Niikawa-Kuroki syndrome"]],[2323,"Sanjad-Sakati综合征",["甲状旁腺功能减退-身材矮小-智力障碍-癫痫发作综合征"]],[2324,"骨质缺乏-智力障碍-脱发-综合征",["Kaler-Garrity-Stern 综合征"]],[2325,"单纯大疱性表皮松解伴先天性无齿症/牙发育不全",["Gamborg-Nielsen 综合征"]],[2326,"Kallmann综合征-心脏病综合征"],[2328,"Kapur-Toriello综合征",["唇腭裂-面眼心肠异常综合征"]],[2329,"Karsch-Neugebauer综合征",["手足分裂畸形-眼球震颤综合征"]],[2330,"卡梅综合征",["血管瘤-血小板减少综合征"]],[2331,"川崎病",["皮肤粘膜淋巴结综合征"]],[2332,"KBG综合征",["身材矮小-面骨异常-智力障碍-巨牙综合征"]],[2333,"Kenny-Caffey综合征",["Kenny综合征"]],[2334,"常染色体显性角膜炎",["遗传性角膜炎"]],[2335,"欧洲非罕见：孤立型圆锥角膜"],[2337,"非表皮松解掌跖角化病",["常染色体显性遗传弥漫性掌跖角化病Norrbotten型"]],[2338,"孤立型点状掌跖角皮病",["孤立型点状掌跖角皮病"]],[2339,"毛囊角化病-侏儒症-脑萎缩综合征"],[2340,"棘状秃发性毛发角化病"],[2342,"Haim-Munk综合征",["掌跖角化过度-牙周病-甲弯曲综合征"]],[2343,"孤立型三叶草颅综合征"],[2345,"孤立型Klippel-Feil综合征",["先天性颈椎融合术"]],[2346,"先天性静脉畸形骨肥大综合征",["Klippel-Trénaunay-Weber综合征"]],[2347,"致死性类Kniest发育不良"],[2348,"家族性局部脂肪代谢障碍Dunnigan 型",["家族性局部脂肪代谢障碍2型"]],[2349,"假性肌肥大-甲状腺功能减退综合征",["Kocher-Debré-Semelaigne综合征"]],[2351,"Kousseff综合征",["脊膜膨出-圆锥动脉干畸形综合征"]],[2352,"Kozlowski-Brown-Hardwick 综合征"],[2353,"Schilbach-Rott综合征",["眼距过短-腭裂-尿道下裂综合征"]],[2355,"Kumar-Levick综合征",["指甲发育不良-屈曲指-B型短指综合征"]],[2356,"蛛网膜囊肿"],[2357,"支气管囊肿"],[2363,"泪管-耳-齿-指综合征",["泪管-耳-齿-指综合征"]],[2364,"乳酸脱氢酶缺乏所致糖原贮积病",["乳酸脱氢酶缺乏所致糖原贮积病"]],[2368,"腹裂",["腹裂"]],[2369,"肢体-体壁综合征",["体蒂异常"]],[2370,"Larsen样骨异常增生症-矮小综合征"],[2371,"致死性Larsen样综合征"],[2372,"喉囊肿"],[2373,"先天性喉软化症"],[2374,"先天性喉蹼"],[2375,"喉展肌麻痹-智力障碍综合征",["Plott综合征"]],[2377,"劳伦斯-穆恩综合征"],[2378,"Laurin-Sandrow综合征",["一腕双手-脚鼻缺陷综合征"]],[2379,"早发型帕金森症-智力障碍综合征",["Laxova-Opitz综合征"]],[2380,"Legg-CalvÚ-Perthes病",["股骨头无菌性坏死"]],[2382,"Lennox-Gastaut综合征"],[2386,"脑白质病-掌跖皮肤角化病综合征"],[2387,"全白甲"],[2388,"舞蹈样运动棘红细胞症",["Levine-Critchley 综合征"]],[2389,"Lewis-Pashayan综合征",["唇腭裂-缺指畸形综合征"]],[2390,"Lichtenstein综合征"],[2391,"先天性短肩胛上横韧带"],[2394,"丙酮酸盐脱氢酶E3缺乏",["双氢硫辛酰胺脱氢酶缺乏"]],[2396,"脑颅皮肤脂肪瘤病",["Haberland综合征"]],[2398,"多发对称性脂肪瘤病",["家族性良性颈部脂肪瘤病"]],[2399,"鼻睑脂肪瘤-眼缺损综合征"],[2400,"周围运动神经病变-自主神经功能异常综合征",["Lisker-Garcia-Ramos综合征"]],[2404,"罗阿丝虫病"],[2405,"耳垂增厚-传导性耳聋综合征",["耳垂增厚-传导性听力损失综合征"]],[2406,"闭锁综合征",["脑延脊髓中断"]],[2407,"LOC综合征",["印度次大陆儿童喉和眼部肉芽组织综合征"]],[2408,"Lowe-Kohn-Cohen综合征",["听力损失-肾炎-肛-直肠畸形综合征"]],[2409,"Lowry-MacLean综合征"],[2410,"促性腺激素分泌过多性腺机能减退-白内障综合征",["Lubinsky综合征"]],[2412,"髋关节脱臼-畸形综合征",["Collins-Pope综合征"]],[2414,"先天性肺淋巴管扩张症",["肺淋巴管瘤病"]],[2415,"罕见淋巴管畸形",["淋巴管瘤"]],[2416,"先天性原发性淋巴水肿不伴系统性或内脏受累"],[2419,"淋巴水肿-上睑下垂综合征"],[2420,"原发性肺淋巴瘤"],[2427,"大头畸形-身材矮小-截瘫综合征",["Volcke-Soekarman 综合征"]],[2429,"巨头畸型-痉挛性截瘫-畸形综合征",["Fryns巨头畸形"]],[2430,"先天性巨舌"],[2431,"双侧中央巨脑回"],[2432,"巨大儿-小眼-腭裂综合征",["Teebi-Al Saleh-Hassoon综合征"]],[2435,"低黑斑和深黑斑-生长迟缓-智力残疾综合征",["Westerhof-Beemer-Cormane综合征"]],[2437,"Czeizel-Losonci综合征",["分裂手伴尿路梗阻，脊柱裂和膈肌缺陷"]],[2438,"手-足-外生殖器综合征",["手-足-子宫综合征"]],[2439,"Patterson-Stevenson-Fontaine综合征",["分裂足畸形-下颌骨颜面发育不全综合征"]],[2440,"孤立型手足裂畸形",["分裂手足畸形"]],[2442,"X连锁淋巴增殖性疾病",["Purtilo综合征"]],[2443,"核DNA异常所致线粒体氧化磷酸化障碍",["核DNA异常所致线粒体氧化磷酸化障碍"]],[2444,"先天性肺呼吸道畸形",["先天性肺囊性腺瘤样畸形"]],[2445,"圆锥动脉干心脏畸形"],[2447,"先天性二尖瓣畸形"],[2451,"黏膜和皮肤静脉畸形",["皮肤黏膜静脉畸形"]],[2452,"弃用：血管错位"],[2453,"Malpuech综合征",["Malpuech面裂综合征"]],[2454,"弃用：家族遗传性肠道转位异常-面部异常综合征",["Stalker-Chitayat综合征"]],[2456,"家族遗传性多乳头",["孤立型多乳头畸形"]],[2457,"下颌骨肢端发育异常",["MAD"]],[2458,"弃用：下颌骨发育不全-耳聋-轴后性多指综合征",["Opitz-Reynolds-FitzGerald 综合征"]],[2459,"曼森线虫病",["曼森线虫病"]],[2460,"Van den Ende-Gupta综合征",["类Marden-Walker综合征"]],[2461,"Marden-Walker综合征"],[2462,"Shprintzen-Goldberg综合症",["马方综合征的颅缝早闭综合征"]],[2463,"类马方综合症-常染色体隐性遗传智力障碍综合征"],[2464,"类马方综合征De Silva型"],[2466,"MASA综合征",["智力障碍-失语-曳行步态-拇指内收综合征"]],[2467,"系统性肥大细胞增多症"],[2470,"Matthew-Wood综合征",["无眼畸形-肺发育不全综合征"]],[2471,"McDonough 综合征"],[2473,"McKusick-Kaufman综合征",["子宫阴道积水-轴后性多指症综合征"]],[2474,"弃用：McLain-Dekaban 综合征",["智力障碍-缺损-苗条综合征"]],[2475,"白色额发伴畸形"],[2476,"唇裂/腭裂肢体复位缺损综合征",["Medeira-Dennis-Donnai综合征"]],[2477,"巨脑",["巨脑"]],[2478,"巨脑白质病变伴皮下囊肿",["空泡性巨脑白质脑病伴皮质下囊肿"]],[2479,"球形角膜-智力障碍综合征",["Neuhäuser综合征"]],[2481,"神经皮肤黑素细胞增多症",["神经皮肤黑素细胞增多症"]],[2482,"Melhem-Fahl综合征"],[2483,"梅-罗综合征"],[2484,"Melnick-Needles综合征",["Melnick-Needles骨发育不良"]],[2485,"肢骨纹状肥大症"],[2486,"横向肢端骨缺损-血管瘤综合征"],[2487,"下肢畸形-尿道下裂综合征",["Fried-Goldberg-Mundel 综合征"]],[2489,"上肢缺陷-眼和耳畸形综合征"],[2491,"苗勒管畸形-肢体畸形综合征"],[2492,"FACTO综合征",["腓骨发育不全-胫骨弯曲-简单并指综合征"]],[2494,"Menetrier病",["低蛋白血症性肥厚性胃病"]],[2495,"脑膜瘤"],[2496,"Mesomelia-synostoses综合征",["肢中骨发育不良伴肢端骨性结合Verloes-David-Pfeiffer型"]],[2497,"上肢肢中骨发育不良",["Fryns-Hofkens-Fabry综合征"]],[2498,"并指症8型",["第4和5掌骨融合"]],[2499,"混合性软骨瘤病"],[2500,"肢端早老症",["肢端早老症Gottron型"]],[2501,"干骺端软骨发育不良Spahr型"],[2502,"干骺端成骨不全-智力障碍-传导性耳聋综合征",["干骺端成骨不全-智力障碍-传导性耳聋综合征"]],[2504,"干骺端发育不良-上颌骨发育不足-短指畸形综合征"],[2505,"四肢多发性良性圆周形皮纹",["环形皮肤皱襞，Kunze型"]],[2506,"Michels综合征",["眼-腭-骨综合征"]],[2507,"弃用：Mickleson综合征"],[2508,"胼胝体发育不全-生殖器异常综合征",["小头畸形-胼胝体发育不全-生殖器异常综合征"]],[2510,"Micro综合征",["Warburg micro综合征"]],[2511,"短小头畸形-上睑下垂-唇裂综合征",["Richieri Costa-Guion Almeida-Ramos 综合征"]],[2512,"常染色体隐性遗传小头畸形",["真性小脑髓症"]],[2513,"小头畸形-白化症-手指异常综合征",["Castro Gago-Pombo-Novo综合征"]],[2514,"常染色体显性遗传原发性小头畸形"],[2515,"小头畸形-心肌病综合征",["Winship-Viljoen-Leary综合征"]],[2516,"小头畸形-心脏缺陷-肺分段异常综合征",["Ellis-Yale-Winter 综合征"]],[2518,"常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征",["常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征"]],[2519,"小头畸形-癫痫-智力低下-心脏病综合征"],[2521,"小头畸形-腭裂-视网膜异常色素沉着综合征"],[2522,"小头畸形-颈椎融合畸形综合征"],[2523,"小头畸形-大脑缺陷-痉挛状态-高钠血症综合征",["Franek-Bocker-Kahlen 综合征"]],[2524,"脑桥小脑发育不全2型",["PCH2"]],[2526,"小头畸形-淋巴水肿-脉络膜视网膜病变综合征",["MLCRD"]],[2528,"小头畸形-小角膜综合征Seemanova型",["Seemanova-Lesny综合征"]],[2533,"小头畸形-耳聋-智力障碍综合征",["小头畸形-耳聋-智力障碍综合征"]],[2535,"弃用：小角膜-瞳孔异位-黄斑发育不全综合征"],[2536,"小角膜-青光眼-额窦缺失综合征"],[2538,"小胃-肢体短缩畸形综合征"],[2542,"孤立型小眼畸形-无眼畸形-眼底缺损",["孤立型无眼畸形-小眼畸形综合征"]],[2543,"弃用：小眼畸形-白内障综合征",["先天性白内障-小眼畸形综合征"]],[2547,"小眼-小耳-胎儿运动障碍综合征",["Thomas-Jewett-Raines 综合征"]],[2549,"眼耳椎骨异常伴桡骨缺陷",["半侧颜面短小畸形-桡骨缺损综合征"]],[2551,"小球形晶状体-干骺端发育不良综合征",["Verloes-Van Maldergem-de Marneffe综合征"]],[2552,"微孢子虫病"],[2554,"耳-髌骨-身材矮小综合征",["Meier-Gorlin 综合征"]],[2556,"小眼畸形伴线性皮肤缺损综合征",["小眼畸形-皮肤发育不全-硬化性角膜综合征"]],[2557,"Mietens综合征",["智力障碍，Mietens-Weber 综合征"]],[2558,"Mikati-Najjar-Sahli综合征",["小头畸形-高促性腺素性功能减退症-身材矮小综合征"]],[2560,"Moebius综合征-轴突性神经病-低促性腺激素的性功能减退症综合征"],[2561,"锥状磨牙-上唇畸形综合征",["Ackerman磨牙牙根融合综合征"]],[2563,"MOMO综合征",["巨头畸形-肥胖-智力缺陷-眼畸形综合征"]],[2564,"四肢单指畸形",["Sommer-Hines综合征"]],[2565,"Mononen-Karnes-Senac综合征",["Mononen-Karnes-Senac综合征"]],[2566,"慢性EB病毒感染综合征",["慢性EB病毒感染综合征"]],[2569,"Moore-Federman综合征",["Moore-Federman综合征"]],[2570,"致死性宫内生长受限-皮质畸形-先天性挛缩综合征",["Morse-Rawnsley-Sargent 综合征"]],[2571,"X-连锁免疫神经紊乱",["Woods-Black-Norbury综合征"]],[2572,"痉挛性共济失调-角膜营养不良综合征",["痉挛性共济失调-眼异常综合征"]],[2573,"烟雾病",["特发性烟雾病"]],[2574,"Moynahan综合征",["脱发-癫痫-智力障碍综合征，Moynahan型"]],[2575,"囊性纤维化-胃炎-巨幼细胞贫血综合征",["Lubani-Al Saleh-Teebi 综合征"]],[2576,"Mulibrey侏儒症",["肌肉-肝-脑-眼侏儒症"]],[2578,"Mayer-Rokitansky-Küster-Hauser综合征2型",["Müllerian小管发育不良-肾脏发育异常-颈节异常综合征"]],[2579,"肌萎缩-共济失调-色素性视网膜炎-糖尿病综合征",["Furukawa-Takagi-Nakao综合征"]],[2580,"弃用：肩带缺陷-家族性智力障碍综合征"],[2582,"色氨酸相关性肌痛-嗜酸性粒细胞增多综合征"],[2583,"马杜拉分枝菌病",["马杜拉足"]],[2584,"经典型蕈样真菌病",["蕈样肉芽肿病，Alibert-Bazin亚型"]],[2585,"共济失调-全血细胞减少综合征",["脊髓小脑紊乱"]],[2587,"髓过氧化物酶缺乏症",["髓过氧化物酶缺乏症"]],[2588,"Myhre综合征",["面部畸形-智力障碍-身材矮小-听力损失综合征"]],[2589,"肌阵挛-小脑性共济失调-耳聋综合征",["肌阵挛-小脑性共济失调-耳聋综合征"]],[2590,"脊髓性肌萎缩-进行性肌阵挛性癫痫综合征",["遗传性肌阵挛-进行性远端肌肉萎缩综合征"]],[2591,"婴儿型肌纤维瘤病"],[2593,"微管聚集性肌病"],[2596,"肌病-糖尿病"],[2597,"线粒体肌病-乳酸酸中毒-耳聋综合征",["线粒体肌病-乳酸酸中毒-听力丧失综合征"]],[2598,"线粒体肌病伴铁粒幼细胞性贫血",["肌病，乳酸酸中毒与铁粒幼细胞性贫血"]],[2601,"废弃：肌病-生长迟缓-智力障碍-尿道下裂综合征"],[2604,"家族性内脏肌病",["遗传性空腔脏器肌病"]],[2608,"N综合征"],[2609,"孤立型复合物I缺乏",["孤立型线粒体呼吸链复合物I缺乏症"]],[2611,"线状疣状痣综合征",["线状疣状痣综合征"]],[2612,"线性脂腺痣综合征",["Jadassohn脂腺痣"]],[2613,"指甲-髌骨样肾脏病",["Salcedo综合征"]],[2614,"指甲-髌骨综合征",["Turner-Kieser综合征"]],[2615,"Nakajo-Nishimura综合征",["继发性过度增殖骨周骨病伴冻疮"]],[2616,"3M综合征",["雅库特身材矮小症"]],[2617,"小头先天性侏儒症，Montreal型",["鸟头侏儒症，Montreal型"]],[2619,"短肢侏儒症，Mseleni型",["Mseleni 关节病"]],[2621,"弃用：低出生体重-矮小症-异常丙种球蛋白血综合征",["Christian-Rosenberg综合征"]],[2623,"Geleophysic发育不良",["猫体侏儒"]],[2626,"弃用：垂体功能减退-身材矮小-骨骼畸形综合征",["Blethen-Wenick-Hawkins 综合征"]],[2631,"肢中性侏儒-腭裂-屈曲指综合征",["肢中骨发育不良，Kozlowski-Reardon型"]],[2632,"Langer肢中部发育不良",["肢中骨发育不良，Langer型"]],[2633,"肢中部发育不良，Nievergelt型",["肢中骨发育不良，Nievergelt型"]],[2634,"肢中性侏儒，Reinhardt-Pfeiffer型",["Reinhardt-Pfeiffer肢中骨发育不良"]],[2635,"变型骨发育不良",["间相性侏儒"]],[2636,"小头骨发育不良先天性侏儒I和III型",["小头畸形-骨发育不良-原基性侏儒症，Taybi-Linder型"]],[2637,"小头骨发育不良先天性侏儒2型",["小头畸形-骨发育不良-原基性侏儒综合征Ⅱ型"]],[2639,"腓骨发育不全-复杂短指综合征",["Du Pan综合征"]],[2640,"致死性短肢侏儒，McAlister-Crane型",["McAlister-Crane综合征"]],[2641,"弃用：细肢性侏儒症，Fryns型"],[2643,"小头先天性侏儒症，Toriello型"],[2645,"骨关节发育不良",["单纯性三角头侏儒症"]],[2646,"类扭伤性侏儒症"],[2649,"矮小-智力残疾-眼畸形-唇/腭裂综合征",["Richieri Costa-Guion Almeida 综合征"]],[2650,"弃用：侏儒症-智力障碍-眼畸形综合征",["Mollica-Pavone-Antener综合征"]],[2653,"骨软骨发育不全性侏儒-耳聋-视网膜色素变性综合征",["骨软骨发育不良性矮小-听力丧失-色素性视网膜炎综合征"]],[2654,"韧带发育不良性侏儒症",["Laplane-Fontaine-Lagardere综合征"]],[2655,"致死性发育不全",["TD"]],[2658,"Lenz-Majewski骨肥厚侏儒症"],[2661,"侏儒症-高椎骨综合征"],[2662,"Keipert综合征",["鼻指（趾）听觉综合征"]],[2663,"Nathalie综合征",["感音神经性耳聋-白内障-骨骼异常-心肌病综合征"]],[2665,"先天性中胚层肾瘤"],[2666,"成人家族性肾消耗症-痉挛性麻痹四肢瘫痪综合征"],[2668,"肾病-耳聋-甲状旁腺功能亢进综合征",["肾病-听力丧失-甲状旁腺功能亢进综合征"]],[2669,"肾病-耳聋-泌尿道-手指畸形综合征",["Braun-Bayer 综合征"]],[2670,"Pierson综合征",["小瞳孔-先天性肾病综合征"]],[2671,"Neu-Laxova综合征"],[2672,"Neuhauser-Eichner-Opitz综合征",["儿童复发性脑病"]],[2673,"神经面指肾综合征",["Freire-Maia-Pinheiro-Opitz综合征"]],[2674,"Cyprus面部-神经肌肉骨骼综合征"],[2675,"弃用：神经轴性营养不良-肾小管性酸中毒",["Maccario-Mena综合征"]],[2676,"神经外胚层-内分泌综合征",["Oerter-Friedman-Anderson综合征"]],[2677,"弃用：神经上皮瘤"],[2678,"神经纤维瘤病6型",["多发性咖啡斑综合征"]],[2679,"弃用：小儿轴突性神经病"],[2680,"脱髓鞘神经病变-关节挛缩综合征"],[2686,"周期性粒细胞减少症"],[2687,"中性粒细胞减少-淋巴细胞增多症伴大颗粒淋巴细胞综合征"],[2688,"成人特发性中性粒细胞减少症",["成人慢性特发性中性粒细胞减少"]],[2689,"间歇性中性粒细胞减少症"],[2690,"中性粒细胞减少-单核细胞减少-耳聋综合征",["中性粒细胞减少-单核细胞减少-听力丧失综合征"]],[2691,"Nevo综合征",["脑性巨人症，Nevo型"]],[2694,"弃用：表皮痣-维生素D抵抗佝偻病综合征"],[2695,"鼻正中裂"],[2697,"关节挛缩-肾功能不全-胆汁淤积综合征",["ARC 综合征"]],[2698,"指节垫-白甲病-感音神经性耳聋-掌跖角化病综合征",["Bart-Pumphrey综合征"]],[2699,"上唇正中结节"],[2700,"走马疳",["坏疽性溃疡口炎"]],[2701,"Noonan综合征样异常伴生长期头发松动",["Tosti综合征"]],[2703,"葡萄酒色痣-巨大枕大池-脑积水综合征",["Nova综合征"]],[2704,"Ochoa综合征",["部分面部麻痹伴泌尿系统异常"]],[2705,"弃用：眼脑发育不良",["小眼-视神经发育不全综合征"]],[2706,"弃用：眼脑肢端综合征"],[2707,"眼脑面综合征，Kaufman型"],[2708,"弃用：眼脑骨综合征",["Plum综合征"]],[2709,"眼齿综合征，Rutherfurd型",["牙龈肥大-角膜营养不良"]],[2710,"眼齿指发育不良",["眼牙骨发育不良"]],[2712,"眼面心牙综合征",["白内障-小眼-神经根肿大-心脏间隔缺损综合征"]],[2713,"眼骨皮肤综合征"],[2714,"眼-腭-大脑综合征",["眼-腭-大脑侏儒症"]],[2715,"重症眼-肾-小脑综合征",["Hunter-Jurenka-Thompson综合征"]],[2716,"弃用：眼-骨骼-肾综合征"],[2717,"眼毛发肛门综合征",["Marles-Greenberg-Persaud 综合征"]],[2718,"眼毛发发育不良",["Cecato de Lima-Pinheiro综合征"]],[2719,"眼脑色素沉着不足综合征，Cross型",["Cross综合征"]],[2720,"眼脑色素沉着不足综合征，Preus型"],[2721,"牙-指甲-表皮发育不良",["OODD综合征"]],[2722,"牙齿-指甲发育不良-脱发综合征"],[2723,"牙齿毛发四肢综合征",["Freire-Maia综合征"]],[2724,"多发性牙瘤-主动脉食道狭窄综合征",["Boder综合征"]],[2725,"眼部缺陷-蜘蛛样指-心脏病综合征",["Al Gazali-Al Talabani综合征"]],[2728,"睑裂狭小-智力障碍综合征，Ohdo型",["睑裂狭小综合征，Ohdo型"]],[2729,"Okamoto综合征"],[2730,"轴后性四肢少指畸形"],[2731,"牛牙症-牙齿缺失-头发稀疏综合征"],[2732,"橄榄体脑桥小脑萎缩-耳聋综合征",["橄榄体脑桥小脑萎缩-听力丧失综合征"]],[2733,"肩骨发育不良"],[2736,"致死性脐膨出-腭裂综合征",["Czeizel 综合征"]],[2737,"盘尾丝虫病"],[2739,"指甲-毛发-发育不良-中性粒细胞减少症综合征",["毛发低硫营养不良，G型"]],[2741,"眼下颌支发育不良",["Pillay综合征"]],[2742,"弃用：眼肌麻痹-肌痛-微管聚集综合征"],[2743,"眼肌麻痹-智力障碍-皱襞舌综合征",["Levic-Stefanovic-Nikolic综合征"]],[2744,"水平凝视麻痹伴进行性脊柱侧凸",["进行性眼外肌麻痹和脊柱侧凸"]],[2745,"Opitz G/BBB综合征",["眼距过宽-食管畸形-尿道下裂综合征"]],[2746,"脊椎骨骺发育不良症"],[2749,"口颚肌-肢体发育不良综合征",["口肢端综合征"]],[2750,"口面指综合征1型",["Papillon-Léage-Psaume 综合征"]],[2751,"口面指综合征2型",["Mohr综合征"]],[2752,"口面指综合征3型",["Sugarman综合征"]],[2753,"口面指综合征4型",["Baraitser-Burn综合征"]],[2754,"口面指综合征6型",["多指(趾)畸形-唇/腭裂-精神运动发育迟缓综合征"]],[2755,"口面指综合征8型",["口-面-指综合征，Edwards型"]],[2756,"口面指综合征10型",["口面综合征伴腓骨发育不良"]],[2759,"口咽闭锁-肋椎骨异常综合征",["Seghers综合征"]],[2760,"OSLAM综合征",["骨肉瘤-肢体异常-大红细胞综合征"]],[2762,"进行性骨发育异常",["家族性异位骨化"]],[2763,"狭颅症",["骨颅脾综合征"]],[2764,"剥脱性骨软骨炎",["König病"]],[2765,"弃用：多毛性骨软骨发育不良"],[2767,"腕跗骨骨软骨瘤病",["Maroteaux-Le Merrer-Bensahel综合征"]],[2768,"Blount病",["胫骨变形性骨软骨病"]],[2769,"家族性骨发育不良，Anderson型"],[2770,"Nasu-Hakola病",["多囊性脂膜样骨发育不良伴硬化性白质脑病"]],[2771,"布鲁克综合征",["成骨不全-先天性关节挛缩综合征"]],[2772,"先天性成骨不全-小头畸形-白内障综合征"],[2773,"成骨不全-视网膜病变-癫痫-智力障碍综合征",["Al Gazali-Nair综合征"]],[2774,"多中心腕跗骨骨质溶解伴或不伴肾病",["特发性多中心性骨质溶解伴或不伴肾病"]],[2775,"常染色体隐性腕跗骨骨质溶解",["遗传性多中心性骨质溶解"]],[2776,"常染色体隐性远端骨质溶解综合征",["远端骨溶解-身材矮小-智力障碍综合征"]],[2777,"中轴骨硬化",["轴向骨硬化"]],[2778,"弃用：青少年慢性复发性多灶性骨髓炎",["青少年CRMO"]],[2779,"条纹状骨病- 色素性皮肤病-白色额发综合征",["Whyte-Murphy综合征"]],[2780,"条纹状骨病-颅骨硬化综合征",["全身性骨质增生伴条纹"]],[2781,"骨硬化症及其相关疾病"],[2783,"常染色体显性骨硬化症1型"],[2785,"骨硬化症伴肾小管性酸中毒",["碳酸酐酶2缺乏症"]],[2786,"骨质疏松症-眼皮肤色素减退综合征",["Hernández-Fragoso综合征"]],[2787,"骨质疏松症-大头畸形-失明-关节过度松弛综合征",["Heide综合征"]],[2788,"骨质疏松症-假神经胶质瘤综合征",["眼型成骨不全"]],[2789,"外侧脑膜膨出综合征",["Lehman综合征"]],[2790,"骨内膜骨质增生，Worth型",["常染色体显性遗传性骨硬化，Worth型"]],[2791,"耳牙综合征",["耳牙发育不良"]],[2792,"耳面颈综合征",["Fara-Chlupackova综合征"]],[2793,"耳指甲腓骨综合征"],[2794,"欧洲非罕见：遗传性耳硬化病"],[2795,"Fowler尿道括约肌功能失调综合征",["Fowler-Christmas-Chapple综合征"]],[2796,"厚皮性骨膜病",["Touraine-Solente-Gole 综合征"]],[2798,"巨脑回畸形-智力障碍-癫痫综合征",["Kuzniecky综合征"]],[2800,"乳房外Paget病"],[2801,"青少年paget病",["幼年骨外层肥厚畸形"]],[2802,"X连锁铁粒幼细胞贫血和脊髓小脑共济失调",["X连锁铁粒幼细胞性贫血伴共济失调"]],[2804,"W综合征",["Pallister-W综合征"]],[2805,"胰腺部分发育不全",["胰腺部分发育不全"]],[2806,"亚急性硬化脑白质炎",["亚急性包涵体脑炎"]],[2807,"脉络丛乳头状瘤",["脉络膜丛乳头状瘤"]],[2808,"喉外展肌麻痹",["家族性声带功能障碍"]],[2809,"家族性复发性外周性面瘫",["家族性复发性贝尔麻痹"]],[2810,"欧洲非罕见：特发性面神经麻痹",["Bell麻痹"]],[2812,"Parana硬皮综合征",["硬皮综合征，Parana型"]],[2815,"痉挛性轻瘫-耳聋综合征",["痉挛性截瘫-听力丧失综合征"]],[2816,"痉挛性截瘫-癫痫-智力障碍综合征",["SPEMR"]],[2818,"痉挛性截瘫-青光眼-智力障碍综合征"],[2819,"痉挛性截瘫-面部-皮肤损伤综合征",["Bahemuka-Brown综合征"]],[2820,"痉挛性截瘫-肾炎-耳聋综合征",["痉挛性截瘫-肾炎-听力丧失综合征"]],[2821,"痉挛性截瘫-神经病-皮肤异色病",["Antinolo-Nieto-Borrego综合征"]],[2822,"常染色体隐性痉挛性截瘫11型",["痉挛性截瘫-智力障碍-薄胼胝体综合征"]],[2823,"弃用：截瘫-短指畸形-锥状骨骺综合征",["Fitzsimmons-Guilbert综合征"]],[2824,"截瘫-智力障碍-角化过度综合征",["Fitzsimmons-McLachlan-Gilbert 综合征"]],[2825,"PARC综合征",["皮肤异色-脱发-下颌后缩-腭裂综合征"]],[2826,"痉挛性截瘫-性早熟综合征"],[2828,"青年发病型帕金森病",["早发帕金森病"]],[2829,"Partington-Anderson综合征"],[2831,"肢根型发育不良，Patterson-Lowry型"],[2832,"短跗骨-下睫毛缺失综合征",["Lopes-Gorlin综合征"]],[2833,"皮肤僵硬综合征"],[2834,"皱皮综合症",["皱皮综合征"]],[2835,"漏斗胸-大头畸形-指甲发育不良综合征",["Zori-Stalker-Williams综合征"]],[2836,"PEHO综合征",["进行性脑病伴水肿、心律失常和视神经萎缩"]],[2837,"糙皮病样皮疹-神经病学表现综合征"],[2838,"肾盏憩室炎-耳聋综合征",["肾盏憩室-听力丧失综合征"]],[2839,"骨盆-肩发育不良",["肩胛髂骨发育不良"]],[2840,"骨盆发育不良-下肢关节挛缩综合征",["Ray-Peterson-Scott综合征"]],[2841,"家族性良性慢性天疱疮",["Hailey-Hailey良性慢性家族性天疱疮"]],[2842,"阴茎阴囊转位"],[2843,"戊糖尿症",["木糖醇脱氢酶缺乏症"]],[2846,"先天性心包缺损"],[2847,"心包和膈肌缺损"],[2848,"屈曲指-关节病-髋内翻-心包炎综合征",["心包炎-关节病-屈曲指综合征"]],[2849,"Perlman综合征",["肾母细胞瘤-胎儿腹水-巨大儿-Wilms瘤综合征"]],[2850,"脱发-智力障碍综合征",["Perniola-Krajewska-Carnevale综合征"]],[2853,"蛇纹状腓骨-多囊肾综合征",["Exner综合征"]],[2854,"Fuhrmann综合征",["腓骨发育不全-股骨侧弓-少指(趾)畸形综合征"]],[2855,"Perrault综合征",["XX性腺发育不良-听力丧失综合征"]],[2856,"苗勒管持续存在综合征",["苗勒管衍生物持续存在"]],[2860,"弃用：Preeyasombat-Varavithya综合征",["身材矮小-高钾血症-酸中毒综合征"]],[2861,"弃用：身材矮小-小头畸形-心脏缺陷综合征",["D'Ercole综合征"]],[2863,"身材矮小-缝间骨-右位心综合征",["Stratton-Parker综合征"]],[2864,"弃用：身材矮小-下颌前突-短股骨颈综合征"],[2865,"身材矮小-蹼状颈-心脏病综合征",["Al-Gazali-Aziz-Salem综合征"]],[2866,"身材矮小-耳聋-中性粒细胞功能障碍-畸形综合征",["Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome","Thong-Douglas-Ferrante syndrome"]],[2867,"身材矮小症，Brussels型",["Mievis-Verellen-Dumoulin综合征"]],[2868,"身材矮小症-心脏瓣膜病-特征性面容综合征"],[2869,"Peutz-Jeghers综合征",["错构瘤样肠息肉病"]],[2870,"欧洲非罕见：Peyronie综合征",["阴茎海绵体硬结症"]],[2871,"Pfeiffer-Palm-Teller综合征"],[2872,"心颅综合征，Pfeiffer型",["矢状面颅骨狭窄伴先天性心脏病、精神发育迟滞和下颌关节强直"]],[2874,"色素角化性母斑症"],[2875,"色素血管性斑痣性错构瘤病"],[2876,"PHAVER综合征",["Powell-Chandra-Saal综合征"]],[2878,"海豹肢畸形-先天性缺指-耳聋-窦性心律失常综合征",["短肢畸形-先天性缺指(趾)畸形-听力丧失-窦性心律失常综合征"]],[2879,"海豹肢畸形，Schinzel型",["四肢和骨盆发育不全"]],[2880,"磷酸烯醇式丙酮酸羧激酶缺乏症",["PEPCK缺乏症"]],[2881,"皮肤光过敏-致死性结肠炎综合征"],[2882,"谷固醇血症",["植物固醇血症"]],[2884,"斑驳病"],[2885,"花斑秃-神经缺陷综合征",["Telfer-Sugar-Jaeger综合征"]],[2886,"TARP综合征",["马蹄内翻足-房间隔缺损-Robin序列征-永存左上腔静脉综合征"]],[2888,"Pierre-Robin综合征-面部手指异常综合征",["Pierre Robin序列征-面指异常综合征"]],[2889,"卷发",["扭发"]],[2890,"卷发-甲发育不良综合征"],[2891,"卷发-发育迟缓-神经系统异常综合征"],[2892,"毛发牙齿发育不良-屈光不正综合征",["嗜汗性外胚叶发育不良"]],[2894,"弃用：Pilotto综合征"],[2895,"Pinsky-Di George-Harley综合征",["小眼-智力障碍综合征"]],[2896,"皮特-霍普金斯综合征"],[2897,"毛发红糠疹"],[2898,"X连锁智力障碍-斜颈畸形综合征",["Hyde Forster-McCarthy-Berry 综合征"]],[2899,"短躯干-釉质形成缺陷综合征",["扁平椎-釉质形成不全综合征"]],[2900,"LERI氏过早骨化症"],[2901,"神经痛性肌萎缩",["单神经炎复合征伴上臂偏斜"]],[2902,"特发性慢性嗜酸细胞性肺炎",["慢性嗜酸粒细胞性肺炎"]],[2903,"家族性自发性气胸"],[2905,"POEMS综合征",["多发性神经病-内分泌病-浆细胞恶液质综合征"]],[2907,"遗传性肢端角化性皮肤异色症",["Weary综合征"]],[2908,"金德勒综合征",["先天性大疱皮肤异色病"]],[2909,"Rothmund-Thomson 综合征",["Rothmund-Thomson皮肤异色病"]],[2911,"Poland综合征",["波伦序列征"]],[2912,"脊髓灰质炎"],[2913,"非综合征型多指畸形"],[2916,"轴后性多指-牙齿脊柱畸形综合征"],[2917,"多指(趾)畸形-近视综合征",["Czeizel-Brooser综合征"]],[2919,"口-面-指综合征5型",["轴后多指（趾）畸形伴上唇正中裂"]],[2920,"Oliver综合征",["轴后多指（趾）-智力障碍综合征"]],[2921,"轴前性多指症-缺损-智力障碍综合征",["Pfeiffer-Mayer综合征"]],[2924,"孤立型多囊肝病",["常染色体显性遗传性多囊肝病"]],[2925,"弃用：多小脑回-尖形头-生殖腺发育不全综合征"],[2926,"指伸肌发育不良-多发性神经病",["多发性神经病-手部缺陷综合征"]],[2928,"多发性神经病-智力障碍-肢端过小症-过早绝经综合征",["Lundberg综合征"]],[2929,"幼年性息肉病综合征",["幼年性胃肠道息肉病"]],[2930,"Cronkhite-Canada综合征",["胃肠道多发息肉-皮肤色素沉着-脱发-指甲改变综合征"]],[2932,"慢性炎症性脱髓鞘性多发性神经病",["慢性感染性多发性神经根性脱髓鞘性神经病"]],[2934,"多指(趾)并指(趾)畸形-心脏畸形综合征",["Bonneau综合征"]],[2935,"交叉性多指(趾)并指(趾)畸形"],[2940,"脑穿通畸形"],[2941,"脑穿通畸形-小脑发育不全-内部结构畸形综合征",["Bonnemann-Meinecke综合征"]],[2942,"脊髓灰质炎后综合征",["脊髓灰质炎后综合征"]],[2946,"短指(趾)畸形-长拇指综合征",["短指（趾）畸形，长拇指型"]],[2947,"三指节拇指-短指（趾）缺指（趾）综合征",["Carnevale-Hernández-del Castillo综合征"]],[2950,"三指节拇指-多指(趾)并指(趾)综合征",["TPT-PS综合征"]],[2951,"拇指缺如-身材矮小-免疫缺陷综合征"],[2952,"拇指内收-关节挛缩综合征，Christian型"],[2953,"Musculocontractural Ehlers-Danlos综合征",["远端关节挛缩伴特殊面容及肾盂积水"]],[2956,"尖头并指脊柱侧凸",["短指（趾）畸形-脊柱侧弯-腕骨融合综合征"]],[2957,"Gttmacher综合征",["轴前缺失-轴后多指-尿道下裂综合征"]],[2958,"X连锁智力障碍-畸形-脑萎缩综合征",["Prieto-Badia-Mulas综合征"]],[2959,"早衰-身材矮小-色素痣综合征",["Mulvihill-Smith综合征"]],[2962,"De Barsy综合征",["皮肤松弛-角膜云翳-智力障碍综合征"]],[2963,"早衰综合征，Petty型",["Petty-Laxova-Wiedemann 综合征"]],[2964,"常染色体显性遗传凸颌畸形"],[2965,"催乳素瘤",["分泌催乳素的垂体腺瘤"]],[2966,"备解素缺陷症"],[2967,"钴胺转运蛋白I缺乏症",["转钴胺素类1缺乏症"]],[2968,"白细胞粘附缺陷病",["LAD"]],[2969,"类变形杆菌综合征",["Cohen-Hayden综合征"]],[2970,"梨状腹综合征",["腹部肌肉缺乏综合征"]],[2971,"过氧化物酶体酰基辅酶A氧化酶缺乏症",["假性肾上腺脑白质营养不良"]],[2972,"无牙齿萌出-上颌发育不良-膝外翻综合征",["Stoelinga-de Koomen-Davis综合征"]],[2973,"46XX性发育异常-肛门直肠异常综合征"],[2975,"46XX性发育异常-骨骼异常综合征"],[2976,"假性矮妖精貌综合征，Patterson型",["Patterson假性矮妖精貌综合征"]],[2978,"慢性小肠假性梗阻",["CIPO"]],[2980,"四肢-耳-眼综合征",["假性视神经乳头水肿-睑裂狭小-手异常综合征"]],[2981,"Pseudo-Zellweger 综合征",["硫解酶缺乏症"]],[2982,"女性假两性畸形",["女性假两性畸形"]],[2983,"性别分化异常-智力残疾综合征",["Verloes-Gillerot-Fryns综合征"]],[2985,"假性早衰综合征",["眉毛和睫毛缺如-智力障碍综合征"]],[2987,"肘前翼状胬肉综合征"],[2988,"翼状颈-智力障碍-指异常综合征",["Khalifa-Graham综合征"]],[2990,"常染色体隐性遗传多灶性翼状胬肉综合征",["常染色体隐性遗传性非致死性多发性翼状胬肉综合征"]],[2994,"身材矮小-颅面畸形-生殖器发育不良综合征",["Haspeslagh-Fryns-Muelenaere综合征"]],[2995,"Baraitser-Winter脑额面部综合征"],[2997,"睑下垂-声带麻痹综合征",["Tucker综合征"]],[2998,"Carnevale综合征",["上睑下垂-斜视-腹直肌分离综合征"]],[2999,"睑下垂-斜视-瞳孔异位综合征",["McPherson-Hall综合征"]],[3000,"家族性男性性早熟",["家族性促性腺激素非依赖性男性性早熟"]],[3002,"免疫性血小板减少症",["免疫性血小板减少性紫癜"]],[3003,"频发性无软骨生成",["卡梅拉氏综合征"]],[3004,"镜像多指(趾)畸形-脊椎骨分节障碍-肢体缺损综合征"],[3005,"Pyle病",["干骺端发育不良，Pyle型"]],[3006,"维生素B6依赖性癫痫",["维生素B6依赖性癫痫"]],[3008,"丙酮酸羧化酶缺乏",["丙酮酸羧化酶缺乏所致Leigh坏死性脑病"]],[3010,"Qazi-Markouizos综合征",["骨骼发育不协调-肌纤维不平衡综合征"]],[3011,"痉挛性四肢麻痹-色素性视网膜炎-智力障碍综合征",["痉挛性四肢瘫-色素性视网膜炎-智力障碍综合征"]],[3013,"尖牙牙根肥大-先天性白内障",["Marashi-Gorlin综合征"]],[3015,"桡骨-肾综合征"],[3016,"无桡骨-肛门生殖器畸形综合征"],[3018,"视网膜缺血综合征-消化道小血管透明变性-弥漫性脑钙化综合征",["Rambaud-Gallian-Touchard综合征"]],[3019,"Ramon 综合征",["巨颌症-牙龈纤维瘤病-智力障碍综合征"]],[3020,"拉姆齐·亨特综合征",["带状疱疹感染所致面神经麻痹"]],[3021,"RAPADILINO综合征"],[3022,"桡骨侧列缺损-髌骨发育不全-腭裂或高度拱形腭裂-腹泻-关节脱位-矮小四肢畸形-鼻子细长但智力正常",["无汗性外胚层发育不良-唇腭裂综合征"]],[3023,"外耳道闭锁-垂直距骨-器官间距过远综合征",["Rasmussen-Johnsen-Thomsen综合征"]],[3026,"桡侧列发育不全-后鼻孔综合征",["Goldblatt-Viljoen综合征"]],[3027,"尾部退化综合征",["骶骨退化综合征"]],[3029,"欧洲非罕见：马蹄肾"],[3032,"NPHP3相关性梅克尔样综合征",["肾-肝-胰腺发育不良- Dandy-Walker囊肿综合征"]],[3033,"肾小管发育不全",["原发性肾小管综合征"]],[3034,"颅骨膜性成骨延迟",["Gonzales-del Angel综合征"]],[3035,"生长延迟-脑积水-肺发育不全综合征",["Game-Friedman-Paradice综合征"]],[3038,"言语迟缓-面部不对称-斜视-耳垂褶综合征",["Mehes综合征"]],[3041,"智力障碍-秃顶-髌骨脱臼-肢端过小症综合征",["Scholte-Begeer-van Essen综合征"]],[3042,"智力障碍-白内障-耳廓钙化-肌病综合征",["Primrose综合征"]],[3043,"弃用：智力障碍-异常面容综合征",["Morillo Cucci-Passarge综合征"]],[3044,"智力障碍-畸形-性腺功能减退--糖尿病综合征"],[3046,"弃用：智力障碍-异常面容综合征， Davis-Lafer亚型",["Davis-Lafer综合征"]],[3047,"睑裂狭小-智力障碍综合征，SBBYS亚型",["Say-Barber-Biesecker-Young-Simpson综合征"]],[3050,"弃用：智力障碍-肌张力低下-皮肤色素沉着过度综合征",["Medrano-Roldan综合征"]],[3051,"智力障碍-毛发稀疏-肢端短小综合征",["Nicolaides-Baraitser 综合征"]],[3052,"X连锁智力障碍-癫痫-银屑病综合征",["Tranebjaerg-Svejgaard综合征"]],[3055,"X连锁智力障碍-性腺功能减退-鱼鳞病-肥胖-身材矮小综合征",["Young-Hughes综合征"]],[3056,"X连锁智力障碍，Brooks亚型"],[3057,"单胺氧化酶A缺乏",["Brunner综合征"]],[3059,"X连锁智力障碍，Gu亚型",["MRX35"]],[3061,"弃用：X连锁智力障碍，Raynaud亚型"],[3062,"弃用：X连锁智力障碍，Schutz 亚型"],[3063,"X连锁智力障碍，Snyder亚型",["Snyder-Robinson综合征"]],[3064,"弃用：X连锁智力障碍，Wittner亚型"],[3065,"X连锁智力障碍-单胺氧化酶A代谢异常综合征"],[3067,"弃用：智力障碍-小头-指（趾）-面部畸形综合征"],[3068,"智力障碍-肌病-身材矮小-内分泌缺陷综合征",["Chudley-Rozdilsky综合征"]],[3071,"Costello综合征",["面皮肤骨骼综合征"]],[3074,"智力低下-身材矮小-眶距过宽综合征",["Stoll-Géraudel-Chauvin综合征"]],[3077,"X连锁智力障碍-精神异常-巨大睾丸综合征",["Lindsay-Burn综合征"]],[3078,"X连锁严重智力障碍，Gustavson亚型"],[3079,"智力障碍，Buenos-Aires亚型",["Mutchinick综合征"]],[3080,"智力障碍，Wolff亚型",["Wolff-Zimmermann综合征"]],[3082,"智力障碍-多指（趾）畸形-异常毛发综合征",["Kozlowski-Krajewska 综合征"]],[3084,"Mirhosseini-Holmes-Walton综合征",["色素性视网膜病-智力障碍综合征"]],[3085,"色素性视网膜炎-智力障碍-耳聋-性腺功能减退综合征",["色素性视网膜炎-智力障碍-感音神经性听觉丧失-性腺功能减退综合征"]],[3086,"常染色体显性遗传玻璃体视网膜脉络膜病",["ADVIRC"]],[3087,"视网膜-肝-内分泌综合征"],[3088,"Revesz综合征",["视网膜病-贫血-中枢神经系统异常综合征"]],[3090,"先天性肺静脉回流异常",["先天性肺静脉连接异常"]],[3091,"先天性体循环血管异常"],[3092,"主动脉瓣下固定性狭窄"],[3093,"先天性主动脉瓣狭窄"],[3095,"非典型Rett综合征",["Rett综合征变体"]],[3096,"Reye综合征"],[3097,"Meacham综合征",["横纹肌瘤性发育不良-心脏病-生殖器异常综合征"]],[3098,"Rhizomelic综合征, Urbach亚型"],[3099,"风湿热",["急性风湿热"]],[3101,"Richieri Costa-da Silva综合征",["肌强直-智力障碍-骨骼异常综合征"]],[3102,"Richieri Costa-Pereira综合征",["身材矮小- pierre Robin综合征-下颌唇腭裂-手部畸形-马蹄内翻足综合征"]],[3103,"Roberts综合征",["Roberts-SC短肢畸形综合征"]],[3104,"罗宾序列-少指畸形综合征",["pierre Robin序列征-少指(趾)畸形综合征"]],[3105,"类Robinow综合征",["Saal-Greenstein综合征"]],[3106,"Robinow-Sorauf综合征"],[3107,"常染色体显性遗传Robinow综合征"],[3109,"MRKH综合征",["Rokitansky综合征"]],[3110,"Rombo综合征"],[3111,"罗托综合征",["高胆红素血症，Rotor型"]],[3112,"髌骨发育不全-髋外翻-跗骨间骨性结合综合征"],[3115,"Roussy-LÚvy 综合征",["遗传性无反射性站立困难，Roussy-Lévy型"]],[3118,"Rudiger综合征"],[3121,"Ruvalcaba综合征"],[3122,"弃用：窦房结病-近视综合征"],[3123,"Brittle hair综合征, Sabinas亚型",["脆发-精神发育迟缓综合征"]],[3124,"酵母丙氨酸尿症",["酵母氨酸脱氢酶缺乏症"]],[3128,"弃用：Sakati-Nyhan综合征",["尖头多指（趾）并指（趾）畸形3型"]],[3129,"肌氨酸血症",["肌氨酸脱氢酶复合物缺乏症"]],[3130,"Satoyoshi 综合征",["Komuragaeri病"]],[3132,"Say-Barber-Miller综合征",["小头畸形-低丙球蛋白血症-免疫异常综合征"]],[3133,"Say-Field-Coldwell综合征",["三指节拇指-髌骨脱位综合征"]],[3134,"SCARF综合征"],[3135,"家族性舒尔曼病",["家族性Scheuermann幼年期脊柱后凸"]],[3137,"α-N-乙酰半乳糖胺酶缺乏症",["Schindler病"]],[3138,"尺骨-乳腺综合征",["Pallister尺骨-乳腺综合征"]],[3140,"欧洲非罕见：精神分裂症"],[3143,"自身免疫性多内分泌腺病2型",["自身免疫性甲状腺疾病和/或1型糖尿病-艾迪生病综合征"]],[3144,"脊柱元骨骺发育不良发育不良",["软骨发育不良伴蜗牛样骨盆"]],[3145,"肾性尿崩-颅内钙化-面部畸形综合征"],[3148,"恶性周边神经鞘肿瘤",["恶性神经鞘瘤"]],[3151,"多发性硬化-鱼鳞病-VIII因子缺乏综合征"],[3152,"硬化性狭窄",["骨皮质增生-并指(趾)综合征"]],[3153,"欧洲非罕见：青少年特发性脊柱侧凸"],[3156,"Senior-Loken综合征",["肾发育不良-视网膜发育不全综合征"]],[3157,"透明隔-视神经发育不良疾病谱",["透明隔-视神经发育不良"]],[3160,"弃用：血管破坏序列征"],[3161,"先天性肺隔离症",["先天性支气管肺隔离症"]],[3162,"Súzary综合征",["Sézary 淋巴瘤"]],[3163,"SHORT综合征",["脂肪营养不良-Rieger异常-糖尿病综合征"]],[3164,"脐膨出综合征，Shprintzen-Goldberg亚型"],[3165,"嗜酸细胞性筋膜炎",["弥漫性筋膜炎伴嗜酸粒细胞增多"]],[3166,"唾液酸尿症",["唾液酸尿症，法国型"]],[3167,"Siegler-Brewer-Carey综合征"],[3168,"Sillence综合征",["短指（趾）畸形-指趾关节粘连综合征"]],[3169,"并腿畸形"],[3172,"眉重复-并指(趾)综合征"],[3173,"婴儿痉挛-宽拇指综合征",["Tsao-Ellingson综合征"]],[3175,"X连锁肌痉挛-智力障碍-癫痫综合征"],[3176,"脊柱裂-尿道下裂综合征"],[3177,"脊髓小脑退行性变-角膜营养不良综合征",["Der Kaloustian-Jarudi-Khoury综合征"]],[3180,"先天性脊椎指屈曲"],[3181,"高位肩胛",["高位肩胛"]],[3184,"多发性皮脂囊肿-胎生牙综合征"],[3185,"欧洲非罕见：多囊卵巢综合征",["多囊卵巢综合征"]],[3186,"前脑无裂畸形-桡心肾异常综合征",["Steinfeld综合征"]],[3188,"先天性肺静脉闭锁或狭窄"],[3189,"先天性肺动脉瓣狭窄",["Congenital stenosis of pulmonary valve"]],[3190,"肺动脉瓣下狭窄"],[3191,"主动脉瓣下狭窄-矮小综合征",["Onat综合征"]],[3192,"肺动脉瓣上狭窄"],[3193,"主动脉瓣上狭窄",["SVAS"]],[3194,"角膜皮肤骨综合征",["Stern-Lubinsky-Durrie综合征"]],[3195,"胸骨畸形-血管发育不良综合征"],[3196,"甾类脱氢酶缺乏-牙齿畸形综合征",["Lyngstadaas综合征"]],[3197,"遗传性肌张力过度",["先天性僵人综合征"]],[3198,"僵人综合征",["Moersch-Woltman综合征"]],[3199,"Stimmler综合征"],[3200,"关节挛缩-外胚层发育异常综合征",["Stoll-Alembik-Finck综合征"]],[3201,"室性早搏伴晕厥-指(趾)不全-罗宾序列综合征",["Stoll-Kieny-Dott综合征"]],[3202,"脱水遗传性口形红细胞增多症",["遗传性干燥细胞增多症"]],[3203,"遗传性口形红细胞增多症"],[3204,"Stormorken-Sjaastad-Langslet综合征",["血小板病-无脾-瞳孔缩小综合征"]],[3205,"Sturge-Weber综合征",["Sturge-Weber-Krabbe血管瘤病"]],[3206,"St³ve-Wiedemann综合征",["新生儿Schwartz-Jampel综合征"]],[3207,"白质发育不全-胼胝体发育不全-智力障碍综合征",["Curatolo-Cilio-Pessagno 综合征"]],[3208,"孤立型琥珀酸-辅酶Q还原酶缺乏症",["孤立型线粒体呼吸链复合物2缺乏症"]],[3210,"Summitt综合征"],[3212,"常染色体显性遗传视神经萎缩伴先天性耳聋",["常染色体显性遗传性视神经萎缩与先天性听力丧失"]],[3213,"耳聋-视听神经萎缩-痴呆综合征",["听力丧失-视听神经萎缩-痴呆综合征"]],[3214,"耳聋目盲色素沉着不足综合征Yemenite亚型",["也门聋盲性色素减退综合征"]],[3215,"弃用：耳聋-白发-挛缩-乳头状瘤综合征",["Davenport-Donlan综合征"]],[3216,"传导性耳聋-外耳畸形综合征",["Mengel-Konigsmark综合征"]],[3217,"耳聋-小肠憩室-神经病综合征",["听力丧失-小肠憩室-神经病变综合征"]],[3218,"耳聋-骨骺发育异常-矮小综合征",["听力丧失-骨骺发育不良-身材矮小综合征"]],[3219,"Fountain综合征",["听力丧失-骨骼发育不良-特殊面容伴嘴唇丰满综合征"]],[3220,"耳聋-牙釉质发育不全-指甲缺损综合征",["听力丧失-牙釉质发育不全-甲缺损综合征"]],[3221,"全身性甲状腺激素抵抗",["听力丧失-甲状腺激素抵抗综合征"]],[3222,"磷酸核糖焦磷酸合成酶超活性",["PRPP合成酶超活性"]],[3224,"耳聋-生殖器畸形-掌跖骨骨性融合综合征",["Pfeiffer-Kapferer综合征"]],[3225,"听觉丧失-家族性唾液腺醛固酮抵抗综合征",["Tungland-Bellman综合征"]],[3226,"耳聋-淋巴水肿-白血病综合征",["听力丧失-淋巴水肿-白血病综合征"]],[3228,"弃用：神经感音性耳聋-垂体性侏儒症综合征",["感音神经性听力丧失-垂体性侏儒综合征"]],[3229,"弃用：耳聋-周围神经病-动脉病综合征"],[3230,"耳聋-少牙畸形综合征",["听力丧失-少牙畸形综合征"]],[3231,"耳聋-甲营养不良综合征",["听力丧失-甲营养不良综合征"]],[3232,"耳聋-耳畸形-面瘫综合征",["听力丧失-耳畸形-面瘫综合征"]],[3233,"蜗球囊变性-白内障综合征"],[3235,"进展性耳聋伴镫骨固定",["进行性听力丧失伴镫骨固定"]],[3236,"传导性耳聋-睑下垂-骨骼畸形综合征",["传导性听力丧失-上睑下垂-骨骼异常综合征"]],[3237,"多发骨性结合综合征",["听力丧失-Hermann型指（趾）关节粘连综合征"]],[3238,"心脏-脊柱-腕-面综合征",["二尖瓣反流-听力丧失-骨骼异常综合征"]],[3239,"耳聋-白癜风-失迟缓综合征",["听力丧失-白癜风-贲门失弛缓综合征"]],[3240,"中枢神经系统钙化-耳聋-肾小管酸中毒-贫血综合征",["Yoshimura-Takeshita综合征"]],[3241,"耳聋-颅面综合征",["听力丧失-颅面综合征"]],[3242,"X-连锁精神发育迟缓综合征",["PQBP1突变所致X-连锁智力障碍"]],[3243,"Sweet综合征",["急性发热性嗜中性皮肤病"]],[3246,"指关节粘连伴手足多发畸形",["Learman综合征"]],[3248,"远端指关节粘连"],[3250,"近端指关节粘连",["指（趾）关节粘连，Cushing型"]],[3253,"唇腭裂-外胚层发育异常综合征",["并指（趾）-外胚层发育不良-唇/腭裂"]],[3255,"Filippi综合征",["1型并指（趾）-小头畸形-智力障碍综合征"]],[3258,"Cenani-Lenz综合征",["Cenani-Lenz型并指（趾）畸形"]],[3259,"并指（趾）畸形-多指（趾）畸形-耳垂综合症"],[3260,"特发性嗜酸细胞增多综合征"],[3261,"自身免疫淋巴增生综合征",["Canale-Smith 综合征"]],[3262,"Dobrow综合征",["连颌畸形-多发异常综合征"]],[3263,"连颌畸形-腭裂综合征"],[3265,"肱桡骨融合",["肱骨-桡骨融合"]],[3266,"肱桡尺骨融合",["肱骨-桡骨-尺骨融合"]],[3267,"家族性人字缝融合"],[3268,"桡尺骨融合-小头畸形-脊柱侧凸综合征",["Giuffré-Tsukahara综合征"]],[3269,"先天性桡尺骨融合",["桡尺骨融合"]],[3270,"桡尺骨融合-发育迟滞-低张力综合征",["Der Kaloustian-McIntosh-Silver综合征"]],[3271,"桡-尺骨融合-视网膜色素异常综合征",["Buntinx-Lormans-Martin 综合征"]],[3273,"滑膜肉瘤",["滑膜肉瘤"]],[3274,"儿童肉芽肿性关节炎",["肉芽肿性炎症性关节炎，皮炎，葡萄膜炎"]],[3275,"脊柱踝跗骨融合",["脊椎-腕骨-跗骨融合综合症"]],[3276,"缩醛磷脂生物合成紊乱"],[3280,"脊髓空洞症",["脊髓积水"]],[3282,"多灶性房性心动过速",["紊乱性房性心动过速"]],[3283,"希氏束心动过速",["异位性交界性心动过速"]],[3284,"弃用：心动过速-高血压-小眼-高甘氨酸尿综合征"],[3286,"儿茶酚胺敏感性多形性室性心动过速",["儿茶酚胺诱发双向性心动过速"]],[3287,"Takayasu大动脉炎"],[3289,"欧洲非罕见：长冠牙"],[3291,"Teebi-Shaltout综合征"],[3292,"Tel Hashomer Camptodacty综合征"],[3293,"内眦距离过宽-器官间距过远-斜视-高弓足综合征"],[3294,"指伸肌腱异常",["Hapnes-Boman-Skeie综合征"]],[3299,"破伤风"],[3301,"无四肢-多发畸形综合征",["Zimmer短肢畸形"]],[3303,"法洛四联症"],[3304,"法洛四联症-智力障碍-生长迟缓综合征",["Bindewald-Ulmer-Müller综合征"]],[3305,"四倍体"],[3306,"15号染色体反向重复综合征",["15号染色体同形双着丝粒综合征"]],[3307,"18p等臂染色体",["18短臂等臂染色体"]],[3309,"5号染色体短臂四体",["5号染色体短臂等臂染色体"]],[3310,"9号染色体短臂四倍体",["9号染色体短臂等臂"]],[3311,"弃用：婴儿对称性丘脑退行性变"],[3312,"反应停胎儿病",["胎儿反应停综合征"]],[3313,"弃用：智力障碍-小头畸形-特殊面容综合征",["Thiele综合征"]],[3314,"Thiemann病家族型",["指骨骨骺无菌性坏死"]],[3316,"托马斯综合征",["Potter序列-唇腭裂-心脏病综合征"]],[3317,"胸喉盆腔发育不良",["Barnes综合征"]],[3318,"原发性血小板增多症",["原发性血小板增多症"]],[3319,"先天性无巨核细胞血小板减少症",["CAMT"]],[3320,"血小板减少-桡骨缺失综合征",["TAR综合征"]],[3322,"Hoyeraal-Hriedarsson综合征",["进行性全血细胞减少-免疫缺陷-小脑发育不全综合征"]],[3323,"Braddock-Carey综合征",["血小板减少-Robin序列征综合征"]],[3324,"家族性血栓调节蛋白异常"],[3325,"肝素诱导性血小板减少症",["肝素诱导性血小板减少症2型"]],[3326,"胸腺-肾-肛-肺发育不良"],[3327,"甲状腺-脑-肾综合征",["Cutler-Bass-Romshe综合征"]],[3328,"胫骨缺如-多指(趾)畸形-蛛网膜囊肿综合征",["Holmes-Collins综合征"]],[3329,"胫骨发育不良-先天性缺指(趾)畸形",["长骨发育不全相关性手足裂畸形"]],[3331,"弃用：弓状胫骨-桡骨畸形-骨质减少-骨折综合征",["Chitty-Hall-Webb 综合征"]],[3332,"胫骨发育不全-轴后性多指症综合征",["胫骨发育不全-多指综合征"]],[3333,"结缔组织发育不良Spellacy亚型",["Spellacy-Gibbs-Watts综合征"]],[3336,"TomÚ-Brunet-Fardeau 综合征"],[3337,"原发性范可尼肾小管综合征",["原发性范可尼肾综合征"]],[3338,"Toriello-Carey 综合征",["胼胝体发育不全-睑裂狭小-Robin序列征综合征"]],[3339,"Toriello-Lacassie-Droste 综合征",["先天性表皮发育不良-眼球外层皮样囊肿综合征"]],[3340,"弃用：Torres-Aybar 综合征"],[3341,"斜颈-瘢痕疙瘩-隐睾-肾发育不良综合征"],[3342,"动脉迂曲综合征",["ATS"]],[3343,"弓蛔虫病"],[3344,"Weismann-Netter 综合征",["腿前弓伴侏儒"]],[3346,"气管发育不全"],[3347,"Mounier-K³hn 综合征",["特发性气管支气管肥大症"]],[3348,"骨化性气管支气管病",["气管骨形成症"]],[3349,"Treft-Sanborn-Carey综合征",["视神经萎缩-眼肌麻痹-上睑下垂-听觉丧失-肌病综合征"]],[3350,"震颤-眼震-十二指肠溃疡综合征",["Neuhauser-Daly-Magnelli综合征"]],[3351,"毛母细胞瘤",["Kersey 综合征"]],[3352,"毛发-牙齿-骨综合征",["TDO 综合征"]],[3353,"毛皮肤发育不良-牙齿蚀变综合征",["Pinheiro-Freire Maia-Miranda综合征"]],[3354,"弃用：毛发-眼-皮肤-脊椎综合征",["外胚层发育不良症-白内障-脊柱后凸侧弯综合征"]],[3355,"毛发牙齿甲床发育不良",["毛发牙齿甲床发育不良伴额顶区骨骼缺陷"]],[3357,"弃用：常染色体显性遗传毛发牙齿甲床发育不良-并指(趾)",["Trueb-Burg-Bottani综合征"]],[3360,"弃用：木霉属综合征-智力障碍综合征",["Katsantoni-Papadakou Lagoyanni综合征"]],[3361,"毛发发育不良-干皮病综合征"],[3362,"弃用：睫毛粗长症-白内障-遗传性球形红细胞增多综合征",["Goldstein-Hutt综合征"]],[3363,"睫毛粗长症-视网膜色素变性-矮小综合征",["长睫毛-智力障碍综合征"]],[3365,"三角头畸形-宽拇指综合征",["Hunter-Rudd-Hoffmann 综合征"]],[3366,"孤立型三角头畸形",["非综合征性额缝早闭"]],[3368,"三角头畸形-鼻裂-肢端异常综合征"],[3369,"三角头畸形-矮小-发育迟缓综合征",["Say-Meyer综合征"]],[3374,"斜视"],[3375,"X染色体三倍体",["3X染色体综合征"]],[3376,"三倍体"],[3377,"牙关紧闭-假性先天性指屈曲综合征",["远端关节挛缩7型"]],[3378,"13号染色体三体",["Patau综合征"]],[3379,"17号染色体长臂远端三体",["17号染色体长臂远端重复"]],[3380,"18号染色体三体",["18号染色体三体"]],[3383,"肱骨滑车发育不良"],[3384,"动脉干",["共肺动脉主动脉干"]],[3385,"非洲锥虫病",["非洲睡眠病"]],[3386,"美洲锥虫病",["Chagas病"]],[3387,"孤立型颈前多毛",["Tsukahara-Kajii综合征"]],[3388,"神经管缺损"],[3389,"结核"],[3390,"近端肾小管病-糖尿病-小脑共济失调综合征"],[3391,"牙-指甲-少汗发育不良-中线头皮缺损综合征",["外胚层发育不良症-肾上腺囊肿综合征"]],[3392,"土拉杆菌病"],[3394,"软组织肉瘤",["恶性软组织肿瘤"]],[3398,"胸腺上皮肿瘤",["胸腺上皮肿瘤"]],[3399,"胚细胞瘤"],[3400,"主动脉-心室隧道"],[3402,"新生儿一过性酪氨酸血症",["新生儿一过性酪氨酸血症"]],[3403,"Uhl畸形"],[3404,"Ulbright-Hodes综合征",["肾发育不良-肢体中部短肢-桡骨肱骨融合综合征"]],[3405,"脐带溃疡-肠道闭锁综合征"],[3406,"眉部瘢痕性红斑"],[3408,"Upington病",["髋发育不良-内生软骨瘤-外生软骨瘤综合征"]],[3409,"Urban-Rogers-Meyer综合征",["智力障碍-矮小-手挛缩-生殖器畸形综合征"]],[3411,"双子宫-半阴道-肾发育不全综合征",["梗阻性半阴道-同侧肾发育不全综合征"]],[3412,"VACTERL 伴脑积水",["Sujansky-Leonard综合征"]],[3416,"全身性骨皮质增厚",["迟发性高磷酸盐血症"]],[3417,"Van den Bosch综合征"],[3419,"弃用：Van Regemorter-Pierquin-Vamos综合征"],[3421,"脑视网膜血管病",["Grand-Kaine-Fulling 综合征"]],[3423,"Vasquez-Hurst-Sotos综合征",["性腺功能减退症-男子乳腺发育-X连锁智力障碍综合征"]],[3424,"软腭-面-骨骼综合征"],[3426,"右室双出口",["DORV"]],[3427,"左室双出口",["DOLV"]],[3429,"Verlove-Vanhorick-Brubakk综合征",["腭裂-肢体心脏异常综合征"]],[3433,"小头-短指（趾）-脊柱后凸侧弯综合征",["Viljoen-Kallis-Voges 综合征"]],[3434,"MMEP综合征",["小头-小眼-先天性下肢缺指-凸颌综合征"]],[3435,"欧洲非罕见：白癜风"],[3437,"Vogt-小柳-原田综合征",["葡萄膜大脑炎综合症"]],[3438,"胆道畸形-肾衰竭综合征",["胆汁郁积性黄疸-肾小管缺乏综合征"]],[3439,"Von Voss-Cherstvoy综合征",["海豹肢-血小板减少-脑膨出-泌尿生殖器畸形"]],[3440,"Waardenburg综合征"],[3444,"Watson综合征",["肺动脉狭窄伴牛奶咖啡斑"]],[3446,"类Weaver综合征"],[3447,"Weaver综合征",["指弯曲畸形-生长过度-特殊面容综合征"]],[3448,"Weaver-Williams综合征"],[3449,"Weill-Marchesani综合征",["球形晶状体-短形综合征"]],[3450,"Weissenbacher-Zweymuller 综合征",["Pierre Robin序列征-胎儿软骨发育不全综合征"]],[3451,"West综合征",["智力障碍-高度节律失调综合征"]],[3452,"Whipple病",["肠原性脂质营养不良"]],[3453,"自身免疫性多内分泌腺病1型",["自身免疫性甲状旁腺功能减退症-慢性念珠菌病-爱迪生病综合征"]],[3454,"智力障碍-发育迟缓-挛缩综合征",["足挛缩-肌萎缩-动眼运用不能综合征"]],[3455,"Wiedemann-Rautenstrauch综合征",["新生儿早老样综合征"]],[3456,"Wildervanck综合征",["颈眼听力障碍综合征"]],[3459,"Wilson-Turner综合征",["X-连锁智力障碍-男子乳腺发育-肥胖综合征"]],[3460,"Torg-Winchester综合征",["Winchester综合征"]],[3463,"Wolfram综合征",["尿崩症-糖尿病-视神经萎缩-听力丧失综合征"]],[3464,"Woodhouse-Sakati综合征",["糖尿病-性腺功能减退-听力丧失-智力障碍综合征"]],[3465,"Worster-Drought综合征",["先天性上延髓麻痹"]],[3466,"WT肢-血液综合征"],[3467,"遗传性黄嘌呤尿症",["黄嘌呤结石病"]],[3469,"XK脑前部缺无综合征",["Garcia-Lurie综合征"]],[3471,"Young 综合征",["无精子症-窦肺感染综合征"]],[3472,"Yunis-Varon 综合征",["锁骨颅骨发育不良-小颌-拇指缺如综合征"]],[3473,"Zimmermann-Laband综合征",["牙龈纤维瘤病-肝脾肿大-其它畸形综合征"]],[3474,"CHIME综合征",["眼缺损-先天性心脏病-鱼鳞病样皮肤病-智力障碍-耳畸形综合征"]],[25968,"良性枕叶癫痫"],[25980,"X连锁肌病伴过度自噬",["XMEA"]],[26106,"遗传性弥漫性胃癌",["遗传性弥漫性胃腺癌"]],[26137,"巨细胞性动脉炎",["非巨细胞肉芽肿性颞动脉炎伴嗜酸性粒细胞增多症"]],[26348,"获得性凝血酶原缺乏症",["获得性低凝血酶原血症"]],[26349,"获得性蛋白S缺乏症"],[26790,"腹膜假粘液瘤",["明胶性腹水"]],[26791,"多种酰基辅酶A脱氢酶缺乏症",["戊二酸尿症2型"]],[26792,"短链酰基辅酶A脱氢酶缺乏症",["ACADS缺乏症"]],[26793,"极长链酰基辅酶A脱氢酶缺乏症",["VLCAD 缺乏症"]],[26823,"欧洲非罕见：色素播散综合征"],[28378,"酪氨酸血症II型",["酪氨酸氨基转移酶缺乏所致酪氨酸血症"]],[28455,"弃用：胰腺β细胞发育不全伴新生儿糖尿病"],[29072,"遗传性嗜铬细胞瘤-副神经节瘤",["家族性嗜铬细胞瘤-副神经节瘤"]],[29073,"多发性骨髓瘤",["骨髓浆细胞瘤"]],[29207,"反应性关节炎",["Fiessinger-Leroy-Reiter 综合征"]],[29822,"自发性周期性低体温",["间歇性自发性低体温"]],[30391,"孤立型胆道闭锁",["孤立型胆管闭锁"]],[30924,"原发性低镁血症继发性低钙血症",["选择性肠吸收不良性低镁血症"]],[30925,"遗传性中枢性尿崩症",["遗传性中枢性尿崩症"]],[31043,"家族原发性低镁血症合并高钙尿症和肾钙质沉着症不伴严重眼部累及",["FHHNC不伴严重眼部累及"]],[31112,"隆凸性皮肤纤维肉瘤",["DFSP"]],[31142,"口腔糜烂型苔藓"],[31150,"丹吉尔病",["三磷酸腺苷结合盒转运体A1缺乏症"]],[31153,"低α脂蛋白血症"],[31154,"低β脂蛋白血症"],[31202,"类鼻疽"],[31204,"诺卡菌病"],[31205,"鼠咬热"],[31709,"婴儿惊厥和舞蹈手足徐动症",["发作性运动诱发性运动障碍和婴儿惊厥症"]],[31740,"过敏性肺炎",["外源性过敏性肺泡炎"]],[31824,"秋水仙碱中毒"],[31825,"甲醇中毒"],[31826,"乙二醇中毒"],[31827,"百草枯中毒"],[31828,"洋地黄中毒"],[31837,"肺静脉闭塞病"],[32960,"肿瘤坏死因子受体1相关周期性发热综合征",["肿瘤坏死因子受体1相关周期性发热综合征"]],[33001,"淋巴水肿-双睫毛综合征"],[33067,"干骺端软骨发育不良，Jansen型"],[33069,"Dravet综合征",["婴儿严重肌阵挛型癫痫"]],[33108,"致死性多发性翼状胬肉综合征",["常染色体隐性遗传致死性多发性翼状胬肉综合征"]],[33110,"常染色体遗传性丙种球蛋白缺乏血症",["丙种球蛋白缺乏血症，非Bruton型"]],[33111,"肉芽肿性皮肤松弛症"],[33208,"特发性过度睡眠",["原发性过度睡眠"]],[33226,"华氏巨球蛋白血症"],[33271,"欧洲非罕见：非酒精性脂肪肝病",["NAFLD"]],[33276,"卡波西肉瘤"],[33314,"皮肤Jessner淋巴细胞浸润症",["皮肤Jessner-Kanof淋巴细胞浸润症"]],[33355,"网状组织发育不全",["严重联合免疫缺陷病伴白细胞减少"]],[33364,"毛发低硫营养不良"],[33402,"小儿肝细胞癌",["儿童起病型肝细胞癌"]],[33408,"大疱性扁平苔癣"],[33409,"欧洲非罕见：硬化性苔癣",["硬化性萎缩性苔藓"]],[33445,"神经外胚层黑色素溶酶体病",["Elejalde病"]],[33475,"流行性脑脊髓膜炎"],[33543,"克莱恩-莱文综合征"],[33572,"5-氧脯氨酸酶缺乏",["氧脯氨酸酶缺乏所致氧脯氨酸尿症"]],[33573,"γ-谷氧酰转肽酶缺乏",["γ-谷氧酰转肽酶缺乏症"]],[33574,"谷氨酸-半胱氨酸连接酶缺乏",["γ-谷氧酰半胱氨酸合成酶缺乏症"]],[33577,"非化脓性结节性脂膜炎",["复发性发热性结节性非化脓性脂膜炎"]],[34145,"欧洲非罕见病：贝格尔疾病",["IgA肾病"]],[34149,"常染色体显性遗传性肾小管间质性肾病",["常染色体显性遗传髓质囊性肾病"]],[34217,"Naxos病",["掌跖角化过度伴心律失常性心肌病"]],[34412,"欧洲非罕见：HAIR-AN综合征",["雄激素过多-胰岛素抵抗-黑棘皮病综合征"]],[34514,"肌联蛋白帽蛋白相关肢带肌营养不良R7型",["肌联蛋白帽蛋白缺乏所致肢带肌营养不良"]],[34515,"FKRP相关肢带肌营养不良R9型",["常染色体隐性遗传肢带肌营养不良症2I型"]],[34516,"DNAJB6相关肢带肌营养不良D1型",["常染色体显性遗传肢带肌营养不良症1D型"]],[34517,"常染色体显性肢带肌营养不良症1E型",["LGMD1E"]],[34520,"整合素α7缺乏型先天性肌营养不良",["先天性肌营养不良症伴ITGA7缺乏"]],[34521,"远端肌病伴早期呼吸肌受累"],[34526,"遗传性原发低镁血症"],[34527,"家族性原发性低镁血症伴正常尿钙血钙"],[34528,"常染色体显性遗传性原发性低镁血症伴低钙尿症",["常染色体显性遗传低镁血症"]],[34533,"角膜营养不良"],[34587,"LAMP2缺乏所致糖原贮积病",["肝糖原贮积病伴正常酸性麦芽糖活性"]],[34592,"MHC-I类分子表达缺陷所致免疫缺陷",["裸淋巴细胞综合征1型"]],[35056,"欧洲非罕见：臭鱼症",["鱼腥味综合征"]],[35061,"弃用：特发复发致残性皮肤疱疹"],[35062,"特发性播散性巨细胞病毒感染",["特发性播散性巨细胞病毒感染"]],[35063,"暴发性病毒性肝炎"],[35064,"弃用：致死性特发性病毒感染"],[35065,"弃用：特发性重症肺炎球菌血症"],[35066,"欧洲非罕见：特发性皮肤粘膜念珠菌病",["特发性皮肤粘膜念珠菌病"]],[35069,"婴儿神经轴索营养不良",["非钙依赖型磷脂酶A2相关性神经退行性病变"]],[35078,"JAK3缺乏所致重症T-B+免疫缺陷",["JAK3缺乏所致T-B+SCID"]],[35093,"孤立型舟状头",["非综合征性矢状缝骨性融合症"]],[35098,"孤立型斜形头",["非综合征型单头骨性结合"]],[35099,"孤立型短头",["非综合征型双头骨性结合"]],[35107,"链甾醇病"],[35120,"5-核苷酸嘧啶缺乏所致溶血性贫血",["尿苷5'-单磷酸水解酶缺乏症"]],[35121,"溶酶体酸性磷酸酶缺乏症"],[35122,"先天性蔗糖酶异麦芽糖酶缺乏",["先天蔗糖-异麦芽糖吸收不良"]],[35123,"弃用：短链3-羟酰基辅酶A脱氢酶缺乏症",["3-羟基-2-甲基丁酰辅酶A脱氢酶缺乏症"]],[35125,"表皮痣综合征",["表皮错构瘤综合征"]],[35173,"X-连锁显性点状软骨发育不良",["X-连锁遗传点状软骨发育不良2型"]],[35612,"真性小眼球",["小眼症"]],[35656,"辅酶Q10缺乏症",["CoQ10缺乏"]],[35664,"ALDH18A1相关De Barsy综合征",["δ1-二氢吡咯5-羧酸合成酶缺乏症"]],[35686,"匐行性脉络膜炎",["匐行性脉络膜萎缩"]],[35687,"Erdheim-Chester病"],[35688,"弃用：马德隆畸形"],[35689,"原发性侧索硬化症",["成人发病型原发性侧索硬化"]],[35696,"线粒体蛋白合成缺陷所致线粒体疾病",["联合氧化磷酸化缺乏症"]],[35698,"线粒体DNA缺失综合征",["线粒体DNA缺失综合征"]],[35701,"3-羟基-3-甲基戊二酰辅酶A合成酶缺乏症",["HMG-CoA合酶缺乏症"]],[35704,"精氨酸-甘氨酸脒基转移酶缺乏",["AGAT缺乏症"]],[35705,"丝氨酸缺乏所致神经代谢紊乱",["丝氨酸缺乏症"]],[35706,"戊二酸血症3型",["戊二酰辅酶A氧化酶缺乏"]],[35708,"芳香族L-氨基酸脱羧酶缺乏症",["AADC缺乏症"]],[35710,"葡葡糖-半乳糖吸收不良症",["SGLT1缺乏症"]],[35737,"牵牛花综合征",["牵牛花综合症"]],[35807,"恶性卵巢生殖细胞肿瘤",["卵巢恶性生殖细胞肿瘤"]],[35808,"恶性卵巢性索间质肿瘤",["恶性卵巢性索-间质瘤"]],[35858,"Imerslund-Grõsbeck综合征",["选择性钴胺吸收不良伴蛋白尿"]],[35878,"高胰岛素-高血氨综合征",["HI/HA综合征"]],[35889,"急性阿片中毒"],[35909,"凝血因子Ⅴ+Ⅷ联合缺乏症",["家族性混合凝血因子缺乏症"]],[35981,"多小脑回"],[36204,"肠淋巴管扩张"],[36205,"弃用：胶原性结肠炎"],[36234,"细菌中毒性休克综合征",["细菌中毒性休克综合征"]],[36235,"葡萄球菌性猩红热"],[36236,"葡萄球菌性烫伤样皮肤综合征",["全身性剥脱性疾病"]],[36237,"大疱性脓疱疮"],[36238,"葡萄球菌坏死性肺炎"],[36258,"Buerger病",["血栓闭塞性脉管炎"]],[36273,"皮革胃",["皮革胃"]],[36297,"欧洲非罕见：神经性厌食"],[36355,"P2Y12缺乏所致出血",["ADP血小板受体P2Y12缺陷所致出血性疾病"]],[36367,"1号染色体长臂远端单体",["1号染色体长臂端粒缺失"]],[36382,"家族性颈动脉夹层",["遗传性颈动脉夹层"]],[36383,"COL4-A1相关家族性血管性白质脑病",["COL4A1相关性脑小血管疾病伴出血"]],[36386,"遗传性感觉和自主神经病变1型",["遗传性感觉和自主神经病I型"]],[36387,"全面性癫痫伴热性惊厥附加症",["遗传性癫痫伴热性惊厥附加症"]],[36388,"神经系统副肿瘤综合征",["副肿瘤性小脑变性"]],[36397,"痛性肥胖病",["脂肪组织风湿病"]],[36412,"低补体血性荨麻疹性血管炎",["Mac Duffie低补体性荨麻疹性血管炎"]],[36414,"弃用：脑干肿瘤"],[36426,"Stevens-Johnson综合征",["多形性红斑Stevens Johnson型"]],[36899,"肌阵挛性肌张力障碍",["遗传性原发性肌阵挛"]],[36913,"自身免疫性甲状旁腺机能减退症"],[37042,"x连锁多内分泌腺病肠病伴免疫失调综合征",["自身免疫性肠病1型"]],[37202,"间质性膀胱炎",["间质性膀胱炎/膀胱疼痛综合征"]],[37553,"Andersen-Tawil综合征",["长QT综合征7型"]],[37559,"获得性卷发综合征"],[37612,"发作性共济失调I型",["发作性共济失调伴肌纤维颤搐"]],[37629,"新生儿中性粒细胞减少症"],[37748,"Schnitzler综合征",["慢性荨麻疹-丙种球蛋白病"]],[38874,"二氢嘧啶尿",["二氢嘧啶酶缺乏症"]],[39041,"Omenn综合征",["免疫缺陷合并嗜酸性粒细胞增多"]],[39044,"葡萄膜黑色素瘤",["脉络膜黑色素瘤"]],[39812,"移植物抗宿主病",["GVH"]],[40050,"欧洲非罕见：银屑病关节炎"],[40366,"阿维A酸/阿维A酯胚胎病",["胎儿阿维A酸（酯）综合征"]],[40923,"Eales病",["特发性视网膜性血管周炎"]],[41751,"结晶样视网膜色素变性",["Bietti晶体角膜视网膜营养不良"]],[41842,"欧洲非罕见：纤维肌痛"],[42062,"亚氨基甘氨酸尿症"],[42642,"PFAPA综合征",["周期热-口疮性口炎-咽炎-腺病综合征"]],[42665,"Tietz综合征",["色素沉着-听力丧失综合征"]],[42738,"重型先天性中性白细胞减少症"],[42775,"PHACE综合征",["Pascual-Castroviejo 综合征2型"]],[43115,"ISCU缺乏所致遗传性肌病伴乳酸酸中毒",["运动不耐受性肌病瑞典型"]],[43116,"血清素综合征",["血清素能综合症"]],[43117,"急性三环类抗忧郁药中毒"],[43119,"具有膜稳定作用药物急性中毒"],[43393,"Lambert-Eaton肌无力综合征"],[44890,"胃肠道间质肿瘤",["胃肠道间质肿瘤"]],[45358,"先天性广泛眼外肌纤维化综合征",["FEOM"]],[45360,"欧洲非罕见：梅尼埃病"],[45448,"Miyoshi肌病"],[45452,"特发性新生儿房扑"],[45453,"连续性婴儿室性心动过速"],[46059,"3β-羟类固醇脱氢酶缺陷症",["3β-羟类固醇脱氢酶缺乏症"]],[46135,"原发性中枢神经系统淋巴瘤",["原发性脑淋巴瘤"]],[46348,"阵发性剧痛症",["家族性直肠痛"]],[46484,"少突胶质细胞肿瘤"],[46485,"表皮类天疱疮"],[46486,"粘膜类天疱疮",["粘膜粘连性类天疱疮"]],[46487,"获得性大疱性表皮松解症",["获得性大疱性表皮松解症"]],[46488,"线性IgA皮肤病"],[46489,"弃用：大疱性系统性红斑狼疮",["BSLE"]],[46532,"遗传性持续性胎儿血红蛋白综合征复合β地中海贫血综合征",["HPFH-β地中海贫血综合征"]],[46627,"Char综合征",["动脉导管未闭伴面部畸形和第五指异常"]],[46658,"原始矮小症-过小牙-乳光牙和牙本质发育不良综合征"],[46724,"脑动静脉畸形",["颅内动静脉畸形"]],[47044,"遗传性乳头状肾细胞癌",["HPRCC"]],[47045,"家族性寒冷性荨麻疹",["家族性冷性自身炎症综合征"]],[47159,"近端肾小管性酸中毒",["肾小管性酸中毒2型"]],[47612,"Felty综合征",["脾大-嗜中性白血球减少症-风湿性关节炎综合征"]],[48104,"坏疽性脓皮病"],[48162,"Lewis-Sumner综合征",["多灶性获得性脱髓鞘感觉和运动神经病"]],[48372,"肝脏结节性再生性增生",["非肝硬化性肝脏结瘤"]],[48377,"角质层下脓疱皮肤病",["角膜下脓疱性皮炎"]],[48431,"先天性白内障-面部畸形-神经病变综合征",["CCFDN"]],[48435,"感染后血管炎"],[48471,"无脑回畸形"],[48652,"22q13.3单体",["Phelan-McDermid综合征"]],[48686,"原发渗出性淋巴瘤",["原发于体腔淋巴瘤"]],[48736,"中枢神经系统胚胎性癌",["中枢神经系统胚胎癌"]],[48818,"血浆铜蓝蛋白缺乏症",["遗传性血浆铜蓝蛋白缺乏症"]],[48918,"局灶性肌炎",["骨骼肌炎性假瘤"]],[49041,"IgG4相关性腹膜后纤维化",["特发性腹膜后纤维化"]],[49042,"牙本质发育不全",["无成骨不全性牙本质发育不全"]],[49382,"全色盲",["完全或不完全色盲"]],[49566,"获得性暴发性紫癜"],[49804,"苔藓样淀粉样变病",["苔藓样淀粉样变病"]],[49827,"维生素B反应型巨幼细胞性贫血综合征",["硫胺素敏感性巨幼红细胞性贫血伴糖尿病和听觉丧失"]],[50251,"胸膜间皮瘤"],[50809,"距骨-髌骨-舟骨骨质溶解症",["Singh-Williams-McAlister综合症"]],[50810,"小脑无脑回畸形伴短肢畸形综合征",["Basel-Vanagaite-Sirota综合征"]],[50811,"脂肪代谢异常-智力残疾-耳聋综合征",["脂质营养不良-智力障碍-听力丧失综合征"]],[50812,"类Zellweger综合征伴过氧化物酶体异常",["Ahn-Lerman-Sagie综合症"]],[50814,"颅豆状核发育不良",["Boyadjiev-Jabs综合症"]],[50815,"鳃源性耳聋综合征",["鳃源性听力丧失综合症"]],[50816,"脊椎干骺端发育不良伴联合免疫缺陷",["脊柱骨软骨发育不良伴免疫功能异常"]],[50817,"Duane畸形-肌病-脊柱侧凸综合征",["Verloes-Deprez综合征"]],[50838,"欧洲非罕见：腕管综合征"],[50839,"猫抓病",["巴尔通体属感染所致巴尔通体病"]],[50918,"Kikuchi-Fujimoto病",["组织细胞性坏死性淋巴结炎"]],[50920,"弃用：乳腺多发性纤维腺瘤",["乳腺多发性腺瘤病"]],[50942,"条纹状掌跖角化病",["Wachter型变异型掌跖角化病"]],[50943,"角层分离性冬季红斑",["冬令红斑角质松解"]],[50944,"Sch÷pf-Schulz-Passarge综合征",["掌跖角化过度-眼睑囊瘤-牙发育不全-毛发稀少综合症"]],[50945,"Blomstrand型致死性软骨发育不良",["骨软骨发育不良Blomstrand型"]],[51013,"弃用：黑色素瘤-胰腺癌综合征"],[51083,"家族性短QT综合征",["SQTS"]],[51084,"短联律间期尖端扭转型室性心动过速综合征"],[51188,"乙基丙二酸脑病"],[51208,"亚胺基甲基谷氨酸尿症",["亚胺甲基转移环脱氨酶缺乏症"]],[51577,"鹅卵石无脑回畸形",["无脑回畸形2型"]],[51608,"婴儿全身性动脉钙化",["特发性婴儿动脉钙化"]],[51636,"WHIM综合征",["疣-低丙种球蛋白血症-反复呼吸道感染-粒细胞缺乏综合征"]],[51890,"前皮神经卡压综合征",["肋间神经综合症"]],[52022,"Potocki-Shaffer综合征",["11号染色体短臂近端缺失综合征"]],[52047,"Braddock综合征",["壶腹样综合征伴肺动脉高压伴异常耳和生长缺陷"]],[52054,"颅缝早闭-颅内钙化综合征",["Longman-Tolmie综合征"]],[52055,"胼胝体发育不全-智力障碍-眼底缺损-小颌畸形综合征",["Graham-Cox综合征"]],[52056,"尺/腓侧指和掌/跖骨缺损-短指综合征",["Morava-Mehes综合征"]],[52183,"染色体早熟凝集伴小头症和智力障碍"],[52368,"耳聋肌张力障碍综合征",["听力丧失-肌张力障碍-视神经病综合征"]],[52416,"套细胞淋巴瘤",["套区淋巴瘤"]],[52417,"MALT淋巴瘤",["黏膜相关淋巴组织淋巴瘤"]],[52427,"白点状视网膜炎",["RPA"]],[52428,"先天性肌营养不良症1C型",["CMD1C","MDC1C"]],[52429,"鳃耳综合征"],[52430,"包涵体肌病伴骨Paget病和额颞部痴呆",["Paget病样肌萎缩侧索硬化"]],[52503,"X-连锁肌酸转运蛋白缺乏",["肌酸转运载体缺乏"]],[52530,"血管性假血友病",["2B型假血管性血友病"]],[52662,"罕见致畸性疾病",["获得性胚胎病"]],[52688,"骨髓增生异常综合征"],[52759,"血管炎",["系统性血管炎"]],[52901,"孤立型促卵泡激素缺乏症",["孤立型FSH缺乏症"]],[52994,"眼眶平滑肌瘤"],[53035,"Caroli病"],[53271,"Muenke综合征"],[53296,"家族性皮肤胶原瘤"],[53347,"Brody肌病"],[53351,"X连锁肌张力障碍型帕金森病",["Lubag综合征"]],[53372,"遗传性颏痉挛",["遗传性颏震颤"]],[53540,"Goldmann-Favre综合征",["视网膜劈裂症伴早发夜盲症"]],[53583,"阵发性肌张力障碍性舞蹈病伴发作性共济失调和痉挛",["发作性舞蹈手足徐动症/痉挛状态"]],[53689,"先天性氯化物性腹泻"],[53690,"先天性乳糖酶缺乏"],[53691,"先天性扁平角膜"],[53693,"GRACILE综合征",["生长受限-氨基酸尿-胆汁淤积-铁超载-乳酸性酸中毒-早逝综合征"]],[53696,"关节挛缩-前角细胞病综合征",["Vuopala病"]],[53697,"颌骨干发育不良",["GDD"]],[53698,"均质小体肌病"],[53715,"家族性瘤样钙化症"],[53719,"脑-视网膜动静脉瘤综合征",["脑面部动静脉异构综合征2型"]],[53721,"脊髓动静脉节段综合征",["皮肤脑脊膜血管瘤病"]],[53739,"远端遗传性运动神经病",["远端脊髓肌萎缩"]],[54028,"Plummer-Vinson综合征",["Kelly-Paterson综合征"]],[54057,"血栓性血小板减少性紫癜",["Moschcowitz病"]],[54238,"强直性肌营养不良3型"],[54247,"后皮质萎缩",["二顶骨阿尔茨海默病"]],[54251,"皮质类固醇-敏感性无菌性脓肿综合征",["弥散性无菌性脓肿"]],[54260,"左心室致密化不全",["左室肌小梁形成过度"]],[54272,"肝细胞性腺瘤"],[54368,"肉孢子虫病",["肉孢子虫病"]],[54370,"原发性膜增生性肾小球肾炎",["系膜毛细血管性肾小球肾炎"]],[54595,"颅咽管瘤"],[55595,"TNP03相关性肢带肌营养不良D2",["常染色体显性遗传性肢带型肌营养不良1F型"]],[55596,"HNRNPDL相关性肢带肌营养不良D3",["常染色体显性遗传性肢带型肌营养不良1G型"]],[55654,"单纯性少毛症",["遗传性单纯性少毛症"]],[55655,"肺炎球菌性脑膜炎"],[55880,"软骨肉瘤"],[55881,"釉质瘤",["长骨成釉细胞瘤"]],[56044,"胆囊癌和肝外胆管癌",["胆囊癌和EBT癌"]],[56304,"成骨不全II型",["新生儿骨发育不良1型"]],[56305,"成骨不全III型",["骨发育不全症3型"]],[56425,"冷凝集素病",["慢性冷凝集素病"]],[56965,"儿童进行性延髓麻痹",["儿童期进行性延髓麻痹"]],[56970,"人朊病毒病",["传染性海绵状脑病"]],[57145,"SUNCT综合征",["单侧短暂性神经头痛伴球结膜充血和流泪"]],[57146,"罕见肝病"],[57194,"弃用：无菌性骨炎"],[57196,"锁骨内侧压缩性骨炎",["锁骨致密性骨炎"]],[57777,"肝硬化心肌病"],[57782,"Mazabraud综合征",["黏液瘤伴骨纤维异常增殖症"]],[58017,"经典型毛细胞白血病",["白血病性网状内皮组织增殖"]],[58040,"成骨细胞瘤"],[58208,"欧洲非罕见：心包炎"],[58220,"弃用：显微镜下结肠炎"],[59135,"Laing早发性远端肌病",["远端肌病1型"]],[59181,"Sorsby假性炎性眼底营养不良"],[59298,"Schilder病",["脱髓鞘弥漫性硬化"]],[59303,"新生儿鱼鳞病-硬化性胆管炎综合征",["鱼鳞病-毛发稀少-硬化性胆管炎综合征"]],[59305,"妊娠滋养细胞肿瘤",["GTN"]],[59306,"McLeod 神经棘红细胞增多综合征",["X-连锁Mcleod综合征"]],[59315,"菱脑融合"],[60014,"银质沉着病",["银染色"]],[60015,"大顶骨孔",["增大顶骨孔"]],[60025,"肺泡微石症"],[60026,"肺假性淋巴瘤",["肺假性淋巴瘤"]],[60030,"洛伊-迪茨综合征",["TGF-β受体异常型主动脉瘤综合征"]],[60032,"复发性呼吸道乳头状瘤病"],[60033,"特发性支气管扩张症"],[60039,"阴部神经痛",["阴部神经痛伴阴部神经压迫"]],[60040,"巨脑-毛细血管畸形-多小脑回综合征",["巨脑-先天性毛细血管扩张性大理石样皮肤综合征"]],[60041,"先天性心脏传导阻滞",["先天性房室传导阻滞"]],[63259,"枕骨裂脑露畸形"],[63260,"颅脊柱裂"],[63261,"HERNS综合征",["遗传性血管内皮细胞病-视网膜病-肾病-卒中综合征"]],[63269,"Antley-Bixler综合征伴生殖器异常和类固醇激素紊乱",["POR相关性Antley-Bixler综合征"]],[63273,"远端肌病伴后腿及前手受累",["远端ABD一细丝蛋白病"]],[63275,"妊娠性类天疱疮",["妊娠性类天疱疮"]],[63440,"孤立型尖头畸形",["尖形头"]],[63442,"天使形指（趾）骨骨骺发育不良",["ASPED"]],[63443,"罕见胃上皮性肿瘤",["罕见胃上皮瘤"]],[63446,"锥形股骨骨骺发育不良"],[63454,"视网膜色素上皮图形状营养不良",["图案状视网膜色素上皮萎缩"]],[63455,"副肿瘤性天疱疮"],[63862,"裂联合征"],[63999,"IgG4相关性纵隔炎",["硬化性纵隔炎"]],[64280,"儿童失神癫痫",["癫痫小发作"]],[64542,"面骨发育不全，Kennedy-Teebi型",["Kennedy-Teebi综合征"]],[64545,"良性特发性新生儿癫痫",["良性特发性新生儿癫痫"]],[64686,"痛性眼肌麻痹综合征",["痛性眼肌麻痹"]],[64692,"奥罗亚热",["杆菌状巴尔通体感染所致巴尔通体病"]],[64694,"战壕热",["五日热巴尔通体感染所致巴尔通体病"]],[64720,"平滑肌肉瘤"],[64722,"肉芽肿性乳腺炎",["特发性肉芽肿性乳腺炎"]],[64734,"虹膜角膜内皮综合征",["ICE综合征"]],[64738,"欧洲非罕见：非罕见易栓症"],[64739,"卵巢过度刺激综合征",["OHSS"]],[64740,"欧洲非罕见：复发性急性胰腺炎"],[64741,"肺胚细胞瘤",["肺母细胞瘤"]],[64742,"胸膜肺母细胞瘤"],[64743,"肝门脉硬化症",["闭塞性门静脉病变"]],[64744,"IgG4相关性甲状腺疾病",["Riedel甲状腺炎"]],[64745,"妊娠瘙痒性荨麻疹性丘疹及斑块",["妊娠性多形疹"]],[64746,"常染色体显性腓骨肌萎缩症2型",["常染色体显性遗传性轴索型性Charcot-Marie-Tooth病"]],[64747,"X连锁腓骨肌萎缩症",["X-连锁遗传性运动感觉神经病"]],[64748,"Dejerine-Sottas综合征",["遗传性运动感觉神经病III型"]],[64749,"腓骨肌萎缩症4型",["常染色体隐性遗传性脱髓鞘Charcot-Marie-Tooth病"]],[64751,"遗传性运动感觉性神经病5型",["Charcot-Marie-Tooth病-金字塔征综合征"]],[64752,"遗传性感觉和自主神经病5型",["先天性痛觉温度觉不敏感"]],[64753,"脊髓小脑共济失调伴轴突性神经病2型",["共济失调-动眼运用不能2型"]],[64754,"黑头粉刺样痣综合征"],[64755,"Becker痣综合征",["色素性毛表皮痣"]],[65250,"神经周围囊肿",["Tarlov囊肿"]],[65279,"弃用：淋巴细胞性结肠炎"],[65282,"Carvajal综合征",["羊毛状发-掌跖角化过度-扩张性心肌病综合征"]],[65283,"Timothy综合征",["长QT综合征-并指（趾）综合征"]],[65284,"生物素-硫铵素反应性基底节病",["生物素反应性基底节病"]],[65285,"小脑发育不良性节细胞瘤",["小脑发育不良性节细胞瘤"]],[65286,"3q29微缺失综合征",["3q亚端粒微小缺失综合征"]],[65287,"β-脲基丙酸酶缺乏症",["β-丙氨酸合酶缺乏症"]],[65288,"永久新生儿糖尿病-胰腺和小脑发育不全综合征",["胰腺和小脑发育不全"]],[65681,"阴道闭锁"],[65682,"良性复发性肝内胆汁淤积",["Summerskill-Walshe-Tygstrup综合征"]],[65683,"孤立型局灶性皮质发育不良",["FCD所致癫痫"]],[65684,"单肢肌萎缩",["青少年上肢远端肌萎缩症"]],[65720,"关节挛缩-重度脊髓侧凸综合征",["远端关节挛缩IID型"]],[65743,"常染色体显性多发性翼状胬肉综合征",["远端关节挛缩8型"]],[65748,"多发性自愈性鳞状上皮瘤",["家族性原发性自愈性鳞状上皮瘤，Ferguson-Smith型"]],[65753,"腓骨肌萎缩症1型",["常染色体显性遗传性脱髓鞘Charcot-Marie-Tooth病"]],[65759,"Carpenter综合征",["尖头多指（趾）并指（趾）畸形2型"]],[65798,"Goodman综合征",["尖头多指（趾）并指（趾）畸形4型"]],[66518,"胰岛素抵抗综合征伴第五掌骨短小"],[66529,"应激性心肌病",["短暂性左心室心尖部气球样变综合征"]],[66624,"伴链球菌感染性小儿自身免疫性神经精神病",["小儿自身免疫性神经精神病伴链球菌感染"]],[66625,"脑眼鼻综合征"],[66627,"色素绒毛结节性滑膜炎",["腱鞘巨细胞瘤"]],[66628,"先天性瘦素缺乏所致肥胖症"],[66629,"Goldberg-Shprintzen巨结肠综合征",["巨结肠-小头综合征"]],[66630,"先天性锁骨假性关节病",["先天性锁骨假关节"]],[66631,"CEDNIK综合征",["大脑发育不全-神经病-鱼鳞病-掌跖角化综合征"]],[66633,"感音神经性听觉丧失-早期老龄化-特发性震颤综合征",["感音神经性耳聋-昌年白发-特发性震颤综合征"]],[66634,"扩张性心肌病伴共济失调",["3-甲基戊二酸尿症5型"]],[66637,"透明脊椎骨发育不全"],[66646,"皮肤肥大细胞增生病"],[66661,"肥大细胞肉瘤"],[66662,"皮肤外肥大细胞瘤"],[67036,"常染色体显性视神经萎缩伴白内障",["常染色体显性遗传性视神经萎缩3型"]],[67037,"弃用：头颈鳞状细胞癌",["头颈鳞状细胞癌"]],[67038,"B细胞慢性淋巴细胞白血病",["B细胞慢性淋巴细胞白血病"]],[67039,"节段性牙颌骨异型增生"],[67041,"透明质酸酶缺乏症",["粘多糖贮积症IX型"]],[67042,"晚发性视网膜变性",["常染色体显性遗传性晚发性视网膜变性"]],[67043,"棘阿米巴性角膜炎"],[67044,"血小板减少症伴先天性红细胞生成障碍性贫血",["X-连锁先天性红细胞生成障碍性贫血伴血小板减少"]],[67045,"X连锁智力残疾伴单发性生长激素缺乏症",["MRGH"]],[67046,"3-甲基戊二酸尿症1型",["3-甲基戊烯二酰-CoA水合酶缺乏症"]],[67047,"3-甲基戊二酸尿症3型",["小儿视神经萎缩伴舞蹈症和痉挛性截瘫"]],[67048,"3-甲基戊二酸尿症4型",["MGA4"]],[68329,"罕见颌面手术疾病",["罕见颌面异常"]],[68334,"凝血因子缺陷所致罕见出血性疾病",["体质性凝血因子所致所致罕见凝血病"]],[68335,"罕见染色体异常"],[68336,"罕见基因型肿瘤"],[68341,"多重先天性异常/畸形综合征"],[68346,"罕见遗传性皮肤病",["罕见遗传性皮肤病"]],[68347,"造血和淋巴组织肿瘤"],[68354,"罕见睡眠障碍"],[68356,"脑白质营养不良"],[68361,"罕见耳聋",["罕见听力丧失"]],[68362,"罕见血管疾病"],[68363,"罕见肌张力障碍",["罕见肌张力障碍"]],[68364,"血红蛋白病"],[68366,"溶酶体病"],[68367,"罕见先天性代谢异常",["罕见代谢疾病"]],[68373,"过氧化物酶体病"],[68378,"先天性肢体畸形"],[68380,"线粒体疾病"],[68381,"神经肌肉疾病"],[68383,"罕见造血组分相关再生障碍性贫血"],[68385,"神经代谢疾病"],[68388,"弃用：神经纤维瘤病"],[68402,"罕见帕金森病",["罕见运动功能减退症"]],[68411,"罕见骨肿瘤"],[68415,"罕见甲状旁腺疾病伴磷钙代谢异常"],[68416,"罕见感染疾病"],[68419,"血管异常或血管瘤"],[69028,"骨发育不良伴短指畸形"],[69061,"特发性类固醇敏感性肾病综合征"],[69063,"母体抗中性肽链内切酶同种免疫所致先天性膜性肾病",["同种免疫性新生儿肾脏疾病"]],[69076,"家族性肾性葡糖尿症",["家族性肾性糖尿"]],[69077,"杆状瘤",["恶性横纹肌样瘤"]],[69078,"脂肪肉瘤"],[69082,"牙-毛发-甲-手指-掌综合征",["牙-毛发-甲-指（趾）-掌综合征，Mendoza-Valiente型"]],[69083,"外胚层发育不良症伴发胎生牙，Turnpenny型"],[69084,"单纯毛发及指甲外胚层发育不良",["头发-甲外胚层发育不良"]],[69085,"四肢-乳房综合征",["LMS"]],[69087,"Naegeli-Franceschetti-Jadassohn综合征",["Naegeli综合征"]],[69088,"无汗性外胚层发育不良-免疫缺陷-骨硬化-淋巴水肿综合征",["OL-EDA-ID"]],[69125,"无甲症伴发弯曲色素沉着症"],[69126,"化脓性关节炎-坏疽性脓皮病-痤疮综合征",["家族性复发性关节炎"]],[69127,"欧洲非罕见：免疫球蛋白A缺乏症",["IgA缺乏"]],[69663,"低磷脂相关性胆石病",["ABCB4相关性胆石症"]],[69665,"妊娠肝内胆汁淤积症",["妊娠复发性肝内胆汁淤积"]],[69723,"酪氨酸血症3型",["4-羟基苯丙酮酸氧化酶缺乏所致酪氨酸血症"]],[69735,"少毛症-淋巴水肿-毛细血管扩张-肾缺损综合征",["少毛症-淋巴水肿-毛细血管扩张-膜增生性肾小球肾炎综合征"]],[69736,"急性双侧虹膜色素脱失",["BADI"]],[69737,"Bosley-Salih-Alorainy综合征"],[69739,"Athabaskan脑干发育不良综合征",["Athabaskan脑干发育不良综合征"]],[69744,"局限性掌趾角化不全"],[69745,"疣性角化不良瘤",["滤泡角膜瘤"]],[70470,"弃用：高脂蛋白血症5型",["主要高脂血症"]],[70472,"先天性乳酸酸中毒，Saguenay-Lac-Saint-Jean型",["细胞色素C氧化酶缺乏，Saguenay-Lac-Saint-Jean型"]],[70474,"利氏综合征伴心肌病",["细胞色素C氧化酶缺乏所致心肌病伴发肌病"]],[70475,"放射性直肠炎"],[70476,"春季角结膜炎",["春季结膜炎"]],[70482,"食管癌",["食管癌"]],[70567,"胆管癌",["胆管癌"]],[70568,"移植后淋巴增殖性疾病",["PTLD"]],[70573,"小细胞肺癌",["SCLC"]],[70578,"成人急性呼吸窘迫综合征",["成人ARDS"]],[70587,"婴儿急性呼吸窘迫综合征",["新生儿呼吸窘迫综合征"]],[70588,"胎粪吸入综合征"],[70589,"支气管肺发育不良",["BPD"]],[70590,"婴儿呼吸暂停",["婴儿呼吸暂停"]],[70591,"慢性血栓栓塞性肺动脉高压",["CTEPH"]],[70592,"白介素1受体相关激酶4缺乏所致免疫缺陷",["IRAK4缺乏症"]],[70593,"选择性抗多糖抗体缺乏所致免疫缺陷",["选择性抗多糖抗体缺乏症"]],[70594,"墨喋呤还原酶缺乏所致多巴反应性肌张力障碍",["常染色体隐性遗传性墨蝶呤还原酶缺乏型DRD"]],[70595,"感觉神经共济失调性神经病-构音障碍-眼肌麻痹综合征",["SANDO"]],[70596,"先天性EB病毒感染",["母婴传播型Epstein-Barr病毒感染"]],[71198,"罕见肺性高血压"],[71202,"血小板组分异常所致罕见出血性疾病",["体质性血栓病和/或血小板减少导致的罕见的凝血病"]],[71203,"自身免疫性血小板减少症"],[71209,"罕见软组织肿瘤",["罕见间叶性肿瘤"]],[71211,"视神经脊髓炎",["Devic病"]],[71212,"短链3-羟酰CoA脱氢酶缺乏所致高胰岛素血症",["谷氨酸脱氢酶缺乏所致高胰岛素血症"]],[71213,"视网膜毛细血管畸形"],[71267,"牙本质发育不全-身材矮小-听力丧失-智力障碍综合征",["牙本质发育不全-身材矮小-耳聋-智力障碍综合征"]],[71269,"弃用：良性眼球突出综合征",["BES"]],[71270,"弃用：眼耳异常-唇裂综合征"],[71271,"分裂手-分裂足-耳聋综合征",["裂手-裂足-听力丧失综合征"]],[71272,"Sandifer综合征"],[71273,"肾胡桃夹综合征",["左肾静脉受压综合征"]],[71274,"播散性腹膜平滑肌瘤病",["播散性腹膜平滑肌瘤病"]],[71275,"Rh缺乏综合征",["Rh因子缺乏综合征"]],[71276,"隐匿性鼻窦综合征",["隐匿性鼻窦综合征"]],[71277,"经典型葡萄糖转运体1缺乏综合征",["GLUT1缺乏所致脑病"]],[71278,"谷氨酰胺合成酶缺乏所致脑发育不全",["遗传性谷氨酰胺合成酶缺乏症"]],[71279,"CANOMAD综合征",["慢性共济失调性神经病-眼肌麻痹-IgM副蛋白-冷凝集素-disialosyl抗体综合征"]],[71281,"罕见中枢神经系统和视网膜血管疾病"],[71289,"桡尺骨融合-无巨核细胞性血小板减少综合征",["ATRUS综合征"]],[71290,"家族性血小板疾病伴相关髓系恶性肿瘤",["FPS/AML"]],[71291,"遗传性血管源性视网膜病",["遗传性血管源性视网膜病-Raynaud现象-偏头痛综合征"]],[71493,"家族性血小板增多症",["遗传性血小板增多症"]],[71505,"肿瘤相关视网膜病",["副肿瘤性视网膜病变"]],[71516,"弃用：组合型肌张力障碍"],[71517,"快发作性肌张力障碍-帕金森综合征",["肌张力障碍12型"]],[71518,"良性婴儿阵发性斜颈"],[71519,"心因性运动障碍",["心因性肌张力障碍"]],[71526,"前阿黑皮素缺乏所致肥胖症",["POMC缺乏"]],[71528,"激酶原转化酶1缺乏所致肥胖症",["PCI缺乏"]],[71529,"黑皮素4受体缺乏所致肥胖症",["MC4R缺乏"]],[71859,"罕见基因神经系统疾病"],[71862,"遗传性视网膜疾病",["视网膜营养不良"]],[71864,"肌肉离子通道病"],[73014,"婴儿顽固性腹泻",["IDI"]],[73217,"苗勒管发育不全",["米勒管发育不全"]],[73220,"X连锁智力低下-低张力面容综合征"],[73223,"全身发育迟缓-骨质疏松-外胚层缺陷综合征"],[73224,"肾小管病-心肌病综合征"],[73229,"HANAC综合征",["常染色体显性遗传性血尿-视网膜动脉迂曲-挛缩综合征"]],[73230,"骨化异常-精神运动发育迟缓综合征"],[73245,"脊髓性肌萎缩-Dandy-Walker畸形-白内障综合征"],[73246,"内脏神经病变-脑异常-面部畸形-发育迟缓综合征"],[73247,"嗜酸细胞性食管炎",["EoE"]],[73256,"中枢神经细胞瘤"],[73260,"副球孢子菌病"],[73263,"接合菌病",["毛霉菌病"]],[73267,"非24小时睡眠-觉醒综合征",["超24小时综合征"]],[73271,"胶原受体缺乏所致自发性出血"],[73272,"胰岛素样生长因子1型缺乏所致发育迟缓",["生长延迟-听力丧失-智力障碍综合征"]],[73273,"胰岛素样生长因子1型抵抗所致发育迟缓",["IGF-1抵抗"]],[73274,"获得性血友病"],[73423,"急性西非荔枝果中毒",["西非荔枝果急性中毒"]],[75110,"蝇蛆病"],[75233,"酸性脂酶缺乏症"],[75234,"胆固醇酯贮积病",["胆固醇酯贮积病"]],[75249,"家族性孤立型限制性心肌病",["家族性或孤立型限制性心肌病"]],[75325,"骨硬化-鱼鳞癣-卵巢早衰综合征",["骨硬化性发育不良-鱼鳞癣-卵巢早衰综合征"]],[75326,"视网膜动脉迂曲",["视网膜出血伴血管迂曲"]],[75327,"北卡罗来纳黄斑营养不良",["中央视网膜色素上皮营养不良"]],[75373,"进行性双焦点型脉络膜视网膜萎缩",["CRAPB","PBCRA"]],[75374,"慢视症",["视网膜电反应抑制延长"]],[75376,"家族性玻璃疣",["多英(氏)蜂窝状视网膜营养不良"]],[75377,"中心性晕轮状脉络膜营养不良",["中央晕轮状脉络膜硬化"]],[75378,"寡锥三色视",["单一视椎细胞综合征"]],[75381,"囊性黄斑营养不良",["常染色体显性遗传性黄斑囊样水肿"]],[75382,"先天性夜盲症",["先天性静止性夜盲症，Oguchi型"]],[75389,"脑畸形-先天性心脏病-轴后性多指综合征",["Goossens-Devriendt综合征"]],[75391,"原发性免疫缺陷伴自然杀伤细胞缺乏和肾上腺功能减退",["MCM4缺陷所致原发性免疫缺陷"]],[75392,"牙周病型Ehlers-Danlos综合征",["Ehlers-Danlos综合征，牙周炎型"]],[75496,"B4GALT7相关脊柱发育不良型Ehlers-Danlos综合征",["EDS伴身材矮小和肢体畸形"]],[75497,"X连锁Ehlers-Danlos综合征",["Ehlers-Danlos综合征5型"]],[75501,"弃用：Ehlers-Danlos综合征,纤连蛋白型",["Ehlers-Danlos综合征，纤维蛋白缺乏型"]],[75508,"血管骨营养不良综合征",["血管骨营养不良综合征"]],[75563,"X连锁铁幼粒细胞性贫血",["XLSA"]],[75564,"获得性特发性铁幼粒细胞性贫血",["难治性贫血伴环状铁粒幼红细胞"]],[75565,"热带心内膜心肌纤维化",["Davies病"]],[75566,"嗜酸细胞增多性心肌心内膜炎",["嗜酸性粒细胞增多性心内膜炎"]],[75567,"原发性进行性冻结步态",["PPFG"]],[75789,"SIBIDS综合征",["毛发低硫营养不良-骨硬化综合征"]],[75790,"Pollitt综合征",["毛发低硫营养不良-神经皮肤综合征"]],[75840,"先天性肌营养不良症，Ullrich型",["硬化性肌营养不良症"]],[75857,"6号染色体长臂末端缺失综合征"],[75858,"MORM综合征",["智力障碍-躯干型肥胖-视网膜营养不良-小阴茎综合征"]],[77240,"原发性淋巴水肿"],[77241,"弃用：早发型淋巴水肿"],[77242,"弃用：获得性迟发性淋巴水肿"],[77243,"脂肪水肿"],[77258,"毛发鼻指(趾)综合征1型和3型"],[77259,"戈谢病1型",["非脑幼年型戈谢病"]],[77260,"戈谢病2型",["急性神经性戈谢病"]],[77261,"戈谢病3型",["脑型幼年和成人戈谢病"]],[77292,"尼曼-匹克病A型"],[77293,"尼曼-匹克病B型"],[77295,"牙脑白质营养不良症",["脑白质营养不良症伴少牙畸形"]],[77296,"Morgagni-Stewart-Morel综合征",["额骨内板增生病"]],[77297,"Majeed综合征",["慢性复发性多灶性骨髓炎-先天性纯红细胞再生障碍性贫血-嗜中性皮病综合征"]],[77298,"无眼/小眼-食管闭锁综合征",["综合征性小眼症3型"]],[77299,"小眼-脑萎缩综合征",["综合征性小眼症10型"]],[77300,"耳廓畸形-唇裂伴或不伴腭裂-眼异常综合征"],[77301,"9q22.3单倍体",["9q22.3微缺失"]],[77302,"眼-耳-面发育不良"],[77303,"弃用：内在B细胞缺陷所致常见变异型免疫缺陷病",["固有B细胞缺陷所致CVID"]],[77304,"弃用：非NOTCH2相关脑部小血管病变"],[77828,"遗传性肥胖症"],[77830,"罕见遗传性牙齿疾病"],[79022,"Simpson-Golabi-Behmel综合征2型",["致死变异型Simpson-Golabi-Behmel综合征"]],[79062,"氨基酸及其他有机酸代谢紊乱"],[79076,"婴儿幼年性息肉病",["婴幼儿息肉病综合征"]],[79078,"IgG4相关性泪腺和唾液腺炎",["慢性泪腺和唾液腺炎"]],[79083,"PPARG相关性家族性部分脂肪营养障碍",["家族性部分性脂肪营养不良3型"]],[79084,"家族性部分脂肪营养障碍，K÷bberling 型",["家族性部分性脂肪营养不良１型"]],[79085,"AKT2相关性家族性部分脂肪营养障碍",["AKT2相关性家族性FPLD"]],[79086,"获得性全身性脂质营养不良",["获得性脂肪萎缩性糖尿病"]],[79087,"获得性部分脂质营养不良",["进行性头胸脂肪营养不良"]],[79088,"局限性脂质营养不良"],[79091,"遗传性包涵体肌病-关节挛缩-眼肌麻痹综合征",["遗传性包涵体肌病3型"]],[79093,"Foix-Alajouanine综合征",["家族性骨硬化伴神经系统和脑膜异常"]],[79094,"Grange综合征",["进行性动脉闭塞性疾病-高血压-心脏缺陷-骨脆弱-短指综合征"]],[79095,"先天性胆汁酸合成障碍4型",["肝病-色素性视网膜炎-多神经病变-癫痫综合征"]],[79096,"磷酸吡哆醛反应性癫痫",["PNPO相关性新生儿癫痫性脑病"]],[79097,"亚叶酸反应性癫痫"],[79098,"交感性眼炎",["交感性眼炎"]],[79099,"间质肉芽肿性皮炎伴关节炎",["Ackerman皮炎综合征"]],[79100,"虫蚀状皮肤萎缩",["网状红瘢性毛囊炎"]],[79101,"高脯氨酸血症2型",["δ-1-吡咯啉-5-羧酸脱氢酶缺乏症"]],[79102,"甲状腺毒性周期性麻痹",["甲状腺毒性低钾周期性麻痹"]],[79105,"粘液样纤维肉瘤",["黏液样恶性纤维组织细胞瘤"]],[79106,"Eiken综合征"],[79107,"发育畸形-耳聋-肌张力障碍综合征",["发育畸形-听力丧失-肌张力障碍综合征"]],[79113,"颌面部发育不良-小头畸形综合征",["颌面骨发育不良，Guion-Almeida型"]],[79118,"新生儿糖尿病-先天性甲状腺功能低下-先天性青光眼-肝纤维化-多囊肾综合征"],[79124,"肝静脉闭塞性疾病-免疫缺陷综合征",["VODL综合征"]],[79126,"急性间质性肺炎",["急性间质性肺炎"]],[79127,"呼吸性细支气管炎-间质性肺疾病综合征",["RB-ILD"]],[79128,"淋巴样间质性肺炎",["淋巴细胞性间质性肺炎"]],[79129,"毛发-牙釉质发育不良综合征"],[79132,"弃用：头发稀疏-身材矮小-皮肤异常综合征"],[79133,"局灶性面部皮肤发育不良I型",["局灶性面部皮肤发育不良，1型brauer型"]],[79134,"DEND综合征",["发育迟缓-癫痫-新生儿糖尿病综合征"]],[79135,"发作性共济失调3型",["发作性共济失调-眩晕-耳鸣-肌纤维颤搐综合征"]],[79136,"发作性共济失调4型",["周期性前庭小脑共济失调"]],[79137,"全身性癫痫-阵发性运动障碍综合征",["GEPD"]],[79138,"Bickerstaff脑干脑炎"],[79139,"日本脑炎"],[79140,"皮肤神经内分泌癌",["Merkel细胞癌"]],[79141,"遗传性疼痛性胼胝",["钱币状掌跖角化过度"]],[79142,"欧洲非罕见：家族性掌筋膜挛缩"],[79143,"孤立型先天性甲缺如",["孤立型甲缺如"]],[79144,"孤立型先天性甲发育不良",["先天性食指指甲发育异常"]],[79145,"Dowling-Degos病",["屈侧网状色素异常"]],[79146,"家族性进行性色素沉着",["遗传性泛发性黑变病"]],[79147,"家族性反应性穿通性胶原病"],[79148,"匐行穿孔性弹性组织变性"],[79149,"皮肤软骨角膜营养不良",["François综合征"]],[79150,"线状和旋涡状痣样过度黑素沉着病",["LWNH"]],[79151,"Hopf疣状肢端角化病",["AKV of Hopf"]],[79152,"播散性浅表光线性汗孔角化病"],[79153,"特发性指甲粗糙脆裂"],[79154,"2-氨基己二酸2-氧己二酸尿症",["α-氨基己二酸尿"]],[79155,"羟基犬尿酸尿症",["犬尿氨酸酶缺乏"]],[79156,"羟赖氨酸尿症所致癫痫-智力障碍综合征"],[79157,"2-甲基丁酰辅酶A脱氢酶缺陷症",["2-甲基丁酰基辅酶A脱氢酶缺乏所致发育迟缓"]],[79158,"脑型有机酸尿症"],[79159,"异丁基辅酶A脱氢酶缺陷症",["异丁酸尿症"]],[79161,"碳水化合物代谢紊乱"],[79163,"典型有机酸尿症"],[79166,"氨基酸吸收和转运异常"],[79167,"尿素循环代谢和氨解毒异常"],[79168,"胆汁酸合成异常"],[79169,"神经递质代谢和转运异常"],[79171,"钴胺素代谢和转运异常"],[79172,"肌酸缺乏综合征",["脑肌酸缺乏综合征"]],[79173,"甲硫氨酸循环和含硫氨基酸代谢异常",["胞质甲基转移或硫氨基酸代谢紊乱"]],[79174,"脂肪酸氧化和酮体代谢异常"],[79175,"γ-氨基丁酸代谢异常",["GABA代谢异常"]],[79177,"糖异生异常"],[79178,"葡萄糖转运异常"],[79179,"甘油代谢异常"],[79181,"组氨酸代谢异常"],[79183,"解酮作用异常"],[79185,"鸟氨酸或脯氨酸代谢异常"],[79186,"磷酸戊糖代谢异常"],[79187,"肽代谢异常"],[79188,"过氧化物酶体β氧化异常"],[79189,"过氧化物酶体生物合成异常",["过氧化物酶体生物合成异常疾病谱"]],[79190,"苯丙氨酸或酪氨酸代谢异常"],[79191,"嘌呤代谢异常"],[79192,"吡多辛代谢异常"],[79193,"嘧啶代谢异常"],[79194,"丝氨酸或甘氨酸代谢异常"],[79195,"甾醇生物合成异常"],[79196,"γ-谷氨酰基循环异常"],[79197,"支链氨基酸代谢异常"],[79200,"能量代谢异常"],[79201,"糖原贮积症",["糖原病"]],[79204,"脂质贮积症"],[79207,"溶酶体氨基酸转运异常"],[79211,"弃用：混合性高脂血症",["复合性高脂蛋白血症"]],[79212,"黏脂贮积症"],[79213,"粘多糖贮积症"],[79214,"生物胺代谢和转运异常"],[79215,"寡糖症"],[79217,"其他代谢疾病伴皮肤累及"],[79219,"代谢疾病伴其他神经递质缺乏"],[79224,"嘌呤或嘧啶代谢异常"],[79225,"神经鞘脂贮积症"],[79226,"甾醇代谢异常"],[79230,"血色素沉着病2型",["青少年血红蛋白沉积症"]],[79233,"次黄嘌呤-鸟嘌呤磷酸核糖基转移酶部分缺陷症",["次黄嘌呤-鸟嘌呤磷酸核糖基转移酶1部分缺乏"]],[79234,"Crigler-Najjar综合征1型",["胆红素尿苷二磷酸葡萄糖醛酸转移酶缺乏症1型"]],[79235,"Crigler-Najjar综合征2型",["胆红素尿苷二磷酸葡萄糖醛酸转移酶缺乏症2型"]],[79237,"半乳糖激酶缺乏症",["半乳糖激酶缺乏性半乳糖血症"]],[79238,"半乳糖表异构酶缺乏",["尿苷二磷酸半乳糖-4-差向异构酶缺乏症"]],[79239,"典型半乳糖血症",["半乳糖-1-磷酸尿苷酰转移酶缺乏"]],[79240,"肝和肌肉磷酸化激酶缺乏所致糖原贮积症",["肝和肌肉磷酸化激酶缺乏所致糖原病"]],[79241,"生物素酶缺陷症",["幼年型多发性羧化酶缺乏"]],[79242,"羧化酶合酶缺陷症",["早发性多发性羧化酶缺乏"]],[79243,"丙酮酸脱氢酶E1-α缺陷症",["丙酮酸脱氢酶复合物E1组分亚基α缺乏症"]],[79244,"丙酮酸脱氢酶E2-α缺陷症",["丙酮酸脱氢酶复合物二氢脂酰胺乙酰转移酶组分缺乏"]],[79246,"丙酮酸脱氢酶磷酸酶缺陷症",["PDH磷酸酶缺乏"]],[79253,"轻型苯丙酮尿症",["变异型苯丙酮尿症"]],[79254,"典型苯丙酮尿症",["经典型PKU"]],[79255,"GM1神经节苷脂贮积病1型",["婴儿型GM1神经节苷脂沉积病"]],[79256,"GM1神经节苷脂贮积病2型",["幼儿型GM1神经节苷脂病"]],[79257,"GM1神经节苷脂贮积病3型",["成人型GM1神经节苷脂沉积病"]],[79258,"葡糖-6-磷酸酶缺乏所致糖原贮积症1a型",["葡糖-6-磷酸酶缺乏所致糖原病Ia型"]],[79259,"葡糖-6-磷酸酶缺乏所致糖原贮积症1b型",["葡糖-6-磷酸酶缺乏所致糖原病1b型"]],[79260,"糖原贮积症1c型",["糖原病1C型"]],[79261,"糖原贮积症1d型",["糖原病1D型"]],[79262,"成人神经元蜡样质脂褐质沉积症",["Kufs病"]],[79263,"婴儿神经元蜡样质脂褐质沉积症",["Hagberg-Santavuori病"]],[79264,"青少年神经元蜡样质脂褐质沉积症",["Spielmeyer-Vogt病"]],[79269,"Sanfilippo综合征A型",["黏多糖贮积症IIIA型"]],[79270,"Sanfilippo综合征B型",["N-乙酰-α-氨基葡萄糖苷酶缺乏症"]],[79271,"Sanfilippo综合征C型",["乙酰肝素α-氨基葡萄糖苷N-乙酰基转移酶缺乏症"]],[79272,"Sanfilippo综合征D型",["氨基葡萄糖N-乙酰-6-硫酸酯酶缺乏症"]],[79273,"遗传性粪卟啉症"],[79276,"急性间歇型卟啉病"],[79277,"先天性红细胞生成性卟啉病",["Günther病"]],[79278,"常染色体遗传红细胞生成性原卟啉病",["EPP"]],[79279,"α-N-乙酰半乳糖胺酶缺陷症1型",["Schindler病1型"]],[79280,"α-N-乙酰半乳糖胺酶缺陷症2型",["成人型α-N-乙酰半乳糖胺酶缺乏"]],[79281,"α-N-乙酰半乳糖胺酶缺陷症3型",["Schindler病3型"]],[79282,"甲基丙二酸血症伴同型半胱氨酸尿症cbIC型",["腺苷钴胺素和甲基钴胺素合成联合缺陷，cbIC型"]],[79283,"甲基丙二酸血症伴同型半胱氨酸尿症cbID型",["腺苷钴胺素和甲基钴胺素合成联合缺陷，cbID型"]],[79284,"甲基丙二酸血症伴同型半胱氨酸尿症cbIF型",["腺苷钴胺素和甲基钴胺素合成联合缺陷，cbIF型"]],[79289,"尼曼-匹克病D型",["Niemann-Pick病, Nova Scotia型"]],[79292,"鱼眼病",["部分LCAT缺陷"]],[79293,"家族性LCAT缺陷症",["完全性LCAT缺陷症"]],[79298,"二氮嗪抵抗型局部高胰岛素血症",["高胰岛素血症性低血糖，二氮嗪抵抗型局部型"]],[79299,"葡糖激酶缺乏所致高胰岛素血症",["葡萄糖激酶缺乏所致高胰岛素血症性低血糖"]],[79301,"先天性胆汁酸合成缺陷1型",["3-β-羟基-δ-5-C27-类固醇氧化还原酶缺乏症"]],[79302,"先天性胆汁酸合成缺陷2型",["氧固醇7-α-羟化酶缺乏症"]],[79303,"先天性胆汁酸合成缺陷3型",["胆汁淤积伴δ（4）-3-酮基-5-β-还原酶缺乏"]],[79304,"进行性家族性肝内胆汁淤积2型",["BSEP缺乏"]],[79305,"进行性家族性肝内胆汁淤积3型",["PFIC3"]],[79306,"进行性家族性肝内胆汁淤积1型",["FIC1缺乏"]],[79310,"维生素B12反应性甲基丙二酸血症cbIA型",["维生素B12-反应性甲基丙二酸尿症，cbIA型"]],[79311,"维生素B12反应性甲基丙二酸血症cbIB型",["维生素B12-反应性甲基丙二酸尿症，cbIB型"]],[79312,"维生素B12无反应性甲基丙二酸血症变异型",["维生素B12 -无反应性甲基丙二酸尿变异型"]],[79314,"L-2-羟基戊二酸尿症",["L-2-羟基戊二酸血症"]],[79315,"D-2-羟基戊二酸尿症",["D-2-羟基戊二酸血症"]],[79316,"弃用：烯醇丙酮酸磷酸羧激酶1缺陷症",["PEPCK1缺乏"]],[79317,"弃用：烯醇丙酮酸磷酸羧激酶2缺陷症",["PEPCK2缺乏"]],[79318,"先天性糖基化障碍1a型",["碳水化合物缺乏糖蛋白综合征Ia型"]],[79319,"先天性糖基化障碍1b型",["碳水化合物缺乏糖蛋白综合征Ib型"]],[79320,"先天性糖基化障碍1c型",["碳水化合物缺乏糖蛋白综合征Ic型"]],[79321,"先天性糖基化障碍1d型",["碳水化合物缺乏糖蛋白综合征Id型"]],[79322,"先天性糖基化障碍1e型",["碳水化合物缺乏糖蛋白综合征Ie型"]],[79323,"先天性糖基化障碍1f型",["碳水化合物缺乏糖蛋白综合征If型"]],[79324,"先天性糖基化障碍1g型",["碳水化合物缺乏糖蛋白综合征Ig型"]],[79325,"先天性糖基化障碍1h型",["碳水化合物缺乏糖蛋白综合征Ih型"]],[79326,"先天性糖基化障碍1i型",["碳水化合物缺乏糖蛋白综合征Ii型"]],[79327,"先天性糖基化障碍1k型",["碳水化合物缺乏糖蛋白综合征Ik型"]],[79328,"先天性糖基化障碍ALG9突变型",["碳水化合物缺乏糖蛋白综合征IL型"]],[79329,"先天性糖基化障碍2a型",["碳水化合物缺乏糖蛋白综合征IIa型"]],[79330,"先天性糖基化障碍2b型",["碳水化合物缺乏糖蛋白综合征Ⅱb型"]],[79332,"先天性糖基化障碍2d型",["糖蛋白缺乏综合征Ⅱd型"]],[79333,"先天性糖基化障碍2e型",["糖蛋白缺乏综合征Ⅱe型"]],[79344,"弃用：点状软骨发育不良，Sheffield型"],[79345,"末节指骨短小点状软骨发育不良"],[79346,"点状软骨发育不良，胫骨-掌骨型"],[79347,"点状软骨发育不良，Toriello型",["Toriello-Higgins-Miller综合征"]],[79350,"3-磷酸丝氨酸磷酸化酶缺陷症，婴儿/青少年型",["PSPH缺乏症，婴儿/青少年型"]],[79351,"3-磷酸甘油酸脱氢酶缺陷症，婴儿/青少年型",["PHGDH缺乏症，婴儿/青少年型"]],[79353,"表皮疾病"],[79354,"鱼鳞病"],[79355,"角化性红皮病"],[79356,"肢端角化症"],[79357,"遗传性掌跖角化病",["遗传性掌跖角化过度"]],[79358,"汗孔角化病"],[79359,"其他表皮疾病"],[79360,"其他遗传性表皮疾病"],[79361,"遗传性大疱性表皮松解症",["遗传性大疱性表皮松解症"]],[79362,"表皮附属器遗传"],[79363,"毛发异常"],[79364,"秃头"],[79365,"伴有多毛症的罕见疾病"],[79366,"孤立型毛干异常"],[79367,"综合征性毛干异常"],[79368,"甲异常"],[79369,"孤立型甲异常"],[79370,"综合征性甲异常"],[79372,"皮脂腺异常"],[79373,"外胚层发育不良综合征",["外胚层发育不良"]],[79374,"皮肤色素沉着异常"],[79375,"皮肤色素沉着过多"],[79376,"皮肤色素沉着过少"],[79377,"真皮异常"],[79378,"真皮弹性组织异常"],[79379,"皮肤血管疾病"],[79380,"混合性真皮疾病"],[79381,"其他真皮疾病"],[79382,"皮下组织疾病"],[79383,"弃用：淋巴水肿"],[79384,"罕见荨麻疹"],[79385,"未分类的遗传性皮肤疾病"],[79386,"罕见皮肤肿瘤或错构瘤"],[79387,"代谢疾病伴皮肤受累"],[79388,"粘多糖贮积症伴皮肤受累",["MPS伴皮肤受累"]],[79389,"早衰症"],[79390,"罕见日光性皮炎",["罕见皮肤光敏感"]],[79391,"免疫缺陷伴皮肤受累"],[79394,"先天性非大疱性鱼鳞病样红皮病",["非大疱性先天性鱼鳞病样红皮病"]],[79395,"残毁遗传性皮肤角化病伴鱼鳞病",["皮肤角化病-鱼鳞状皮肤病-β-葡糖醛酸糖苷酶升高综合征"]],[79396,"单纯性大疱性表皮松解症，重度全身型",["单纯型大疱性表皮松解症，Dowling-Meara型"]],[79397,"单纯性大疱性表皮松解症伴斑驳色素沉着",["EBS with mottled pigmentation","EBS-MP"]],[79399,"单纯型大疱性表皮松解症，中间型",["全身性单纯型大疱性表皮松解症，非Dowling-Meara型"]],[79400,"局限性单纯性大疱性表皮松解症",["单纯型大疱性表皮松解症，Weber-Cockayne型"]],[79401,"单纯型大疱性表皮松解症，Ogna型",["PLEC-related intermediate EBS without extracutaneous involvement"]],[79402,"交界型大疱性表皮松解症，中间型",["泛发性交界性大疱性表皮松解症，非Herlitz型"]],[79403,"交界型大疱性表皮松解症-幽门闭锁综合征",["Carmi综合征"]],[79404,"交界型大疱性表皮松解症，重度全身型",["交界型大疱性表皮松解症，Herlitz-Pearson型"]],[79405,"交界型大疱性表皮松解症，相反型",["反向性JEB"]],[79406,"迟发性交界型大疱性表皮松解症",["进展性EB"]],[79407,"常染色体显性遗传营养不良大疱性表皮松解症，Cockayne-Touraine型",["DDEB, Cockayne-Touraine 型"]],[79408,"重度全身性隐性营养不良性大疱性表皮松解症",["常染色体隐性遗传性营养不良性大疱性表皮松解症，Hallopeau-Siemens型"]],[79409,"隐性营养不良性大疱性表皮松解症，相反型",["反向性隐性营养不良性大疱性表皮松解症"]],[79410,"胫前性营养不良性大疱性表皮松解症",["胫前性DEB"]],[79411,"新生儿暂时性大疱性皮肤松解症",["DEB，新生儿大疱性表皮松解症"]],[79414,"羊毛状发痣",["羊毛状发痣"]],[79428,"弃用：家族性节段性神经纤维瘤病"],[79429,"弃用：家族性脊髓神经纤维瘤病"],[79430,"赫曼斯基-普德拉克综合征",["HPS"]],[79431,"眼皮肤白化病1A型",["酪氨酸酶阴性眼皮肤白化病"]],[79432,"眼皮肤白化病2型",["OCA2"]],[79433,"眼皮肤白化病症3型",["黄斑性眼皮肤白化病"]],[79434,"眼皮肤白化病症1B型",["眼皮肤白化病，Amish型"]],[79435,"眼皮肤白化病症4型",["OCA4"]],[79443,"假性甲状旁腺功能减退症1A型",["Albright遗传性骨营养不良- PPHP综合征Ia型"]],[79444,"假性甲状旁腺功能减退症1C型"],[79445,"假性假甲状旁腺功能减退",["Albright遗传性骨营养不良- PPHP综合征"]],[79446,"致死性腿部翼状带综合征"],[79447,"X连锁致命性多发性翼状胬肉综合征"],[79450,"非遗传性先天性原发性淋巴水肿"],[79452,"米尔罗伊病",["遗传性淋巴水肿Ⅰ型"]],[79455,"皮肤肥大细胞瘤",["皮肤局部肥大细胞瘤"]],[79456,"弥漫皮肤性肥大细胞增多",["弥漫皮肤斑丘疹性肥大细胞增多"]],[79457,"色素性荨麻疹",["色素性荨麻疹"]],[79458,"Oley综合征",["先天性少毛-粟粒疹综合征"]],[79459,"滤泡性萎缩性皮肤-基底细胞癌"],[79466,"炎性线形疣状表皮痣",["ILVEN"]],[79467,"疣状痣"],[79468,"棘状角化松解疣状痣"],[79473,"混合型卟啉病",["原卟啉原氧化酶缺乏症"]],[79474,"非典型Werner综合征",["非典型性类早衰综合征"]],[79476,"格里塞利综合征1型",["色素减退-神经损伤综合征"]],[79477,"格里塞利综合征2型",["色素减退-免疫缺陷伴或不伴神经损伤综合征"]],[79478,"格里塞利综合征3型",["Griscelli-Pruniéras综合征3型"]],[79479,"增殖型天疱疮"],[79480,"红斑型天疱疮",["Senear-Usher综合征"]],[79481,"落叶型天疱疮"],[79482,"回状颅皮-甲状腺发育不全-智力残疾综合征",["Akesson综合征"]],[79483,"色素血管性斑痣性错构瘤病2型",["色素血管性斑痣性错构瘤病2型"]],[79484,"色素血管性斑痣性错构瘤病5型",["色素血管性斑痣性错构瘤病5型"]],[79485,"色素血管性斑痣性错构瘤病3型",["色素血管性斑痣性错构瘤病3型"]],[79486,"囊性淋巴管瘤"],[79489,"海绵状淋巴管畸形",["海绵状淋巴管畸形"]],[79490,"小囊性淋巴管畸形",["微囊浸润性淋巴管畸形"]],[79492,"双菌毛",["双菌毛"]],[79493,"Brooke-Spiegler综合征",["CYLD皮肤综合征"]],[79495,"X连锁先天性全身型多毛症",["先天性全身多毛症， Macias-Flores型"]],[79499,"常染色体显性耳聋-指甲营养不良综合征",["常染色体显性遗传性听力丧失-甲营养不良综合征"]],[79500,"DOORS综合征",["听力丧失-甲营养不良-骨营养不良-智力障碍-惊厥综合征"]],[79501,"点状掌跖角皮病1型",["点状掌跖角皮病，Buschke-Fischer-Brauer型"]],[79502,"点状掌跖角皮病2型",["点状掌跖角皮病2型"]],[79503,"Curth-Macklin型高起性鱼鳞病",["鱼鳞病，Curth-Macklin型"]],[79504,"广泛型高起鱼鳞病",["鱼鳞病，Lambert型"]],[79506,"胆固醇酯转运蛋白缺乏症",["家族性高α脂蛋白血症"]],[79507,"肌张力低下-发育停滞-小头畸形综合征",["白三烯C4合成酶缺乏症"]],[79643,"SUR1缺乏所致常染色体隐性高胰岛素血症",["SUR1缺乏所致常染色体隐性遗传性高胰岛素血症性低血糖症"]],[79644,"Kir6.2缺乏所致常染色体隐性高胰岛素血症",["Kir6.2缺乏所致常染色体隐性遗传性高胰岛素血症性低血糖症"]],[79651,"轻型高苯丙氨酸血症",["Mild HPA","Non-PKU HPA","mHPA"]],[79665,"加德纳综合征"],[79669,"自身免疫性大疱性皮肤病"],[82004,"埃-当综合征伴脑室周围灰质异位",["EDS伴脑室旁小结异位"]],[83001,"泌尿生殖道畸形"],[83311,"落矶山斑疹热"],[83312,"立克次体痘疹"],[83313,"南欧斑疹热",["地中海斑疹热"]],[83314,"流行性斑疹伤寒"],[83315,"鼠型斑疹伤寒",["蚤传播性伤寒"]],[83316,"加州假斑疹伤寒"],[83317,"恙虫热斑疹伤寒",["恙虫病"]],[83330,"近端脊髓肌萎缩1型",["婴儿型脊髓性肌萎缩症"]],[83418,"近端脊髓肌萎缩2型",["慢性婴儿型脊髓性肌萎缩症"]],[83419,"近端脊髓肌萎缩3型",["幼年型脊髓性肌萎缩"]],[83420,"近端脊髓肌萎缩4型",["成年型脊髓性肌萎缩症"]],[83449,"欧洲非罕见：不适当抗利尿激素分泌综合征",["SIADH"]],[83450,"局部牙发育不全",["阴影牙"]],[83451,"菜花样牙骨质-骨化不全",["局灶性牙骨质-骨结构不良"]],[83452,"复杂性局部疼痛综合征"],[83453,"外阴阴道牙龈综合征"],[83454,"静脉血管球畸形",["静脉畸形伴血管球细胞"]],[83461,"先天性原发性无晶状体"],[83463,"小耳畸形"],[83465,"发作性睡病2型",["发作性睡病不伴猝倒"]],[83467,"Morvan综合征",["边缘叶脑炎-神经性肌强直-多汗症-多发性神经病综合征"]],[83468,"单一性骨囊肿",["单房性骨囊肿"]],[83469,"结缔组织增生性小圆细胞肿瘤",["DSRCT"]],[83471,"胸腺发育不全",["Nezelof综合征"]],[83472,"CAMOS综合征",["小脑共济失调-智力障碍-视神经萎缩-皮肤异常综合征"]],[83473,"巨脑-多小脑回-轴后性多指症-脑积水综合征",["MPPH综合征"]],[83476,"西尼罗脑炎",["西尼罗热"]],[83482,"支原体脑炎"],[83483,"大地病毒脑炎",["加利福尼亚脑炎"]],[83484,"圣路易斯脑炎",["圣路易斯脑炎"]],[83593,"西方马脑炎",["西部马脑脊髓炎"]],[83594,"东方马脑炎",["东部马脑脊髓炎"]],[83595,"科罗拉多蜱传热",["科罗拉蜱媒病"]],[83597,"急性播散性脑脊髓炎",["急性播散性脑炎"]],[83600,"昏睡性脑炎",["埃科诺莫脑炎"]],[83601,"自身免疫性甲状腺炎相关激素敏感性脑炎",["桥本脑炎"]],[83616,"风疹性全脑炎"],[83617,"无丙种球蛋白血症-小头畸形-颅缝早闭-重型皮炎综合征"],[83618,"核纤层蛋白A/C基因突变所致严重扩张型心肌病症",["严重扩张型心肌病伴或不伴肌病"]],[83619,"巨口畸形-耳前赘-眼外肌麻痹综合征"],[83620,"先天性吸收不良性腹泻",["肠内分泌细胞缺乏所致先天性吸收不良性腹泻"]],[83628,"LUMBAR综合征",["SACRAL综合征"]],[83629,"脑白质病-脊柱干骺端发育不良综合征",["脑白质病-干骺端软骨发育异常综合征"]],[83639,"糖基磷脂酰肌醇缺乏所致高凝综合征",["PIGM缺乏所致先天性糖基化障碍"]],[83642,"小红细胞贫血伴肝脏铁过载"],[83648,"弃用：X连锁隐性智力障碍-大头畸形-纤毛功能障碍综合征"],[84064,"综合征性腹泻",["腹泻综合征/毛发-肝-肠综合征"]],[84065,"胆酸合成缺陷所致特发性吸收不良",["特发性胆汁酸吸收障碍"]],[84081,"Senior-Boichis综合征",["肾消耗病-肝纤维化综合征"]],[84085,"Hinman综合征",["非神经性神经源性膀胱"]],[84087,"胶原3型肾小球病",["胶原纤维性肾小球病"]],[84090,"纤连蛋白肾小球病",["肾小球病伴纤连蛋白沉积"]],[84093,"遗传性热敏神经病"],[84096,"弃用：未知脑白质营养不良症"],[84132,"Desmin相关性肌病伴Mallory小体样包涵体",["早发性结蛋白相关性肌病"]],[84142,"Isaac综合征",["持续性肌纤维活动综合征"]],[84271,"偶发性特发性激素抵抗型肾病综合征",["散发性特发性肾病"]],[85102,"神经束膜瘤"],[85110,"家族性脑病伴神经丝氨酸蛋白包涵体",["FENIB病"]],[85112,"掌跖角化病-XX性别逆转-鳞状细胞癌易感综合征",["掌跖角化过度-XX性别逆转-鳞状细胞癌易感综合征"]],[85128,"Bothnia视网膜营养不良",["Västerbotten营养不良"]],[85136,"囊性脑白质营养不良不伴巨脑",["CLWM"]],[85138,"艾迪生病",["自身免疫性Addison病"]],[85142,"欧洲非罕见：醛固酮腺瘤",["Conn腺瘤所致原发性醛固酮增多症"]],[85146,"神经源性肩腓综合征，Kaeser型",["Stark-Kaeser综合征"]],[85162,"面部首发型感觉和运动神经病",["FOSMN综合征"]],[85163,"髓鞘形成不足-先天性白内障综合征"],[85164,"先天性指屈曲-身材高大-脊椎侧凸-听力丧失综合征",["先天性指屈曲-身材高大-脊椎侧凸-耳聋综合征"]],[85165,"严重软骨发育不全-发育迟缓-黑棘皮病综合征",["SADDAN"]],[85166,"扁平椎骨发育异常，Torrance型",["扁椎骨致死性骨骼发育不良，Torrance型"]],[85167,"脊椎干骺端发育不良-视锥-视杆细胞营养不良综合征",["SMD-CRD"]],[85168,"颅面骨锥状发育不良"],[85169,"家族性指关节病-短指畸形"],[85170,"肢中骨发育不良，Savarirayan型",["肢中骨发育不良伴腓骨缺失和三角胫骨"]],[85172,"小头骨发育不良症，Saul-Wilson型"],[85173,"IMAGe综合征",["宫内发育迟缓-干骺端发育不良-先天性肾上腺发育不良-生殖器畸形综合征"]],[85174,"假性骨弯曲畸形发育不良"],[85175,"Astley-Kendall发育不良"],[85179,"婴儿型骨硬化症伴神经轴突发育不全"],[85182,"骨干髓腔狭窄-骨恶性肿瘤综合征",["骨干髓质狭窄-恶性纤维组织细胞瘤综合征"]],[85184,"颅骨骨板发育不良，虫蚀型"],[85186,"内膜硬化-小脑发育不全综合征"],[85188,"干骺端发育不全症，Braun-Tinschert型"],[85191,"Singleton-Merten发育不良",["Singleton-Merten综合征"]],[85192,"颅骨环形损伤-骨脆性增加综合征",["家族性颅骨环形损伤"]],[85193,"特发性青少年骨质疏松症",["青少年骨质疏松症"]],[85194,"脊柱-眼综合征"],[85195,"家族性膨胀性骨质溶解",["遗传性扩张性多骨性溶骨性发育不良"]],[85196,"结节病-关节病-骨溶解综合征",["NAO综合征"]],[85197,"遗传性软骨瘤病1型"],[85198,"脊柱内生软骨瘤病"],[85199,"颅缝早闭-肛门畸形-汗孔角化综合征",["CDAGS综合征"]],[85200,"坐骨椎骨发育不良综合征",["坐骨椎骨成骨不全"]],[85201,"生殖器-髌骨综合征",["髌骨缺如-阴囊发育不全-肾畸形-面部畸形-智力障碍综合征"]],[85202,"Keutel综合征",["肺动脉狭窄-末节指骨短小-软骨钙化综合征"]],[85203,"Acropectoral综合征",["并指-轴前多指-胸骨畸形综合征"]],[85212,"胎儿戈谢病",["围产期致死性戈谢病"]],[85273,"X连锁智力障碍，Abidi型"],[85274,"综合征性X连锁智力障碍7型",["X连锁智力障碍，Ahmad型"]],[85275,"小眼球-睑缘粘连-智力障碍综合征",["综合征性小眼症4型"]],[85276,"X连锁智力障碍，Armfield型",["Armfield综合征"]],[85277,"X连锁智力障碍，Cantagrel型"],[85278,"Christianson综合征",["X-连锁Angelman样综合征"]],[85279,"JARID1C突变所致综合征性X连锁智力残疾"],[85280,"X连锁智力障碍-肘外翻-外貌畸形综合征"],[85281,"勒博氏性联遗传智力残疾综合征",["X-连锁智力障碍，Lubs型"]],[85282,"MEHMO综合征",["X-连锁智力障碍-癫痫性发作-生殖腺发育不全-小头畸形-肥胖综合征"]],[85283,"X连锁智力障碍，Miles-Carpenter型"],[85284,"BRESEK综合征",["BRESHECK综合征"]],[85285,"X连锁智力障碍，Schimke型"],[85286,"X连锁智力障碍，Shashi型",["综合征性X-连锁智力障碍11型"]],[85287,"X连锁智力障碍，Siderius型"],[85288,"X连锁智力障碍，Stocco Dos Santos型"],[85289,"X连锁智力障碍，Vitale型"],[85290,"X连锁智力障碍，Wilson 型"],[85291,"X连锁智力障碍，Wittwer型",["Wittwer综合征"]],[85292,"X连锁脊髓小脑共济失调4型",["X-连锁共济失调-痴呆综合征"]],[85293,"X连锁智力障碍，Cabezas型",["Cabezas综合征"]],[85294,"X连锁癫痫-学习障碍-行为障碍综合征"],[85295,"非典型17β-羟类固醇脱氢酶10缺陷症",["X连锁智力障碍-舞蹈手足徐动-行为异常综合征"]],[85297,"X连锁脊髓小脑共济失调3型",["X-连锁共济失调-听力丧失综合征"]],[85317,"X连锁智力障碍-低丙种球蛋白血症-进展性神经功能恶化综合征"],[85318,"弃用：X连锁智力障碍-性早熟-肥胖综合征"],[85319,"X连锁智力障碍-癫痫-进行性关节挛缩-畸形综合征"],[85320,"X连锁智力障碍-大头畸形-大睾丸综合征",["Johnson综合征"]],[85321,"耳聋-智力障碍综合征，Martin-Probst型",["听力丧失-智力障碍综合征，Martin-Probst型"]],[85322,"X连锁智力障碍，Pai型"],[85323,"X连锁智力障碍，Seemanova型"],[85324,"X连锁智力障碍，Shrimpton型",["MRXS9"]],[85325,"X连锁智力障碍，Stevenson型"],[85326,"X连锁智力障碍，Stoll型"],[85327,"X连锁智力障碍-肢端肥大症-多动综合征"],[85328,"X连锁智力障碍，Turner型"],[85329,"X连锁智力障碍-张力减退-面部畸形-攻击行为综合征"],[85330,"X连锁智力障碍-胼胝体发育不全-痉挛性四肢轻瘫综合征"],[85331,"弃用：X连锁智力障碍-肥胖-身材矮小综合征"],[85332,"X连锁智力障碍-视网膜色素变性综合征",["Xp11.3微缺失所致色素性视网膜炎伴智力障碍"]],[85333,"X连锁智力障碍-痉挛性截瘫铁伴铁沉积综合征",["Arena综合征"]],[85334,"X连锁神经退行性病变综合征，Bertini型"],[85335,"Fried综合征"],[85336,"X连锁神经退行性病变综合征，Hamel型"],[85337,"X连锁智力障碍，Zorick型"],[85338,"X连锁智力障碍-共济失调-失用症"],[85408,"类风湿因子阴性的多关节型幼年特发性关节炎",["类风湿因子阴性的幼年多发性关节炎"]],[85410,"少关节型幼年特发性关节炎",["少关节型慢性关节炎"]],[85414,"全身型幼年特发性关节炎",["系统性多关节炎"]],[85435,"类风湿因子阳性的多关节型幼年特发性关节炎",["类风湿因子阳性的多关节型幼年特发性关节炎"]],[85436,"银屑病相关幼年特发性关节炎",["青少年银屑病性关节炎"]],[85438,"附着点炎症相关幼年特发性关节炎",["附着点炎相关性JIA"]],[85442,"身材矮小-垂体和小脑缺陷-小蝶鞍综合征"],[85443,"AL型淀粉样变性",["长链淀粉样变"]],[85445,"AA型淀粉样变性",["炎症性淀粉样变"]],[85446,"野生型β2微球蛋白型淀粉样变性",["野生型β2微球蛋白型淀粉样变性"]],[85447,"V30M突变型转甲状腺素蛋白型淀粉样变性",["家族性淀粉样多神经病，Portuguese-Swedish-Japanese型"]],[85448,"凝溶胶蛋白型淀粉样变",["家族性淀粉样多神经病IV型"]],[85450,"遗传性淀粉样变性伴原发性肾脏受累",["遗传性淀粉样神经病"]],[85451,"V122I突变型转甲状腺素蛋白型淀粉样变性",["转甲状腺素蛋白相关性家族淀粉样变性心肌病"]],[85453,"X-连锁网状色素异常症",["X-连锁皮肤淀粉样变"]],[85458,"遗传性脑出血伴淀粉样变",["HCHWA"]],[86309,"DRAGT1缺乏型先天性糖基化障碍",["磷酸多糖- N-乙酰半乳糖胺磷酸转移酶缺乏症"]],[86788,"X连锁严重先天性中性粒细胞减少症"],[86789,"髌骨不发育/发育不全",["PTLAH"]],[86795,"局限性粘液水肿性苔癣",["丘疹性黏蛋白病"]],[86797,"非典型粘液水肿性苔癣",["中间型黏液水肿性苔藓"]],[86812,"POMT1相关肢带肌营养不良R11型",["肢带型肌营养不良-智力障碍综合征"]],[86813,"螺旋状视乳头周围型脉络膜视网膜变性",["Sveinsson视网膜脉络膜萎缩"]],[86814,"良性成人家族性肌阵挛癫痫",["常染色体显性遗传性皮质肌阵挛震颤性癫痫"]],[86815,"泪腺唾液腺发育不全",["先天性泪腺唾液腺缺失"]],[86816,"先天性无白蛋白血症"],[86817,"腺苷酸激酶缺乏所致溶血性贫血"],[86818,"Alport综合征-智力障碍-面中部发育不全-椭圆形红细胞增多症综合征",["AMME综合征"]],[86819,"无毛症伴丘疹损害",["伴丘疹性损害的先天性无毛症"]],[86820,"家族性股骨头缺血性坏死",["家族性股骨头坏死"]],[86821,"无脑回畸形3型-家族性胎儿运动机能丧失序列综合征"],[86822,"无脑回畸形3型-掌骨发育不良综合征"],[86823,"无脑回畸形伴小脑发育不全",["LCH"]],[86829,"慢性中性粒细胞白血病"],[86830,"未分型慢性骨髓增殖性疾病",["未分化型骨髓增生性疾病"]],[86834,"青少年型骨髓单核细胞白血病",["青少年型慢性粒-单核细胞白血病"]],[86836,"难治性血细胞减少伴多系发育异常"],[86839,"难治性贫血伴原始细胞增多",["RAEB"]],[86841,"骨髓增生异常综合征伴孤立型5号染色体长臂异常",["5q综合征"]],[86843,"急性全髓增殖症伴骨髓纤维化",["急性骨髓发育不良伴骨髓纤维化"]],[86845,"急性髓性白血病伴骨髓发育不良特征",["急性髓系白血病伴多系发育不良"]],[86846,"治疗相关性急性髓系白血病和骨髓增生异常综合征",["治疗相关性AML伴骨髓增生异常综合征"]],[86849,"急性嗜碱粒细胞白血病"],[86850,"髓系肉瘤",["髓外髓样肿瘤"]],[86851,"系列不明白血病",["未定系列的急性白血病"]],[86852,"B细胞幼淋巴细胞白血病",["B-PLL"]],[86854,"脾边缘区淋巴瘤",["SMZL"]],[86855,"浆细胞瘤",["孤立性浆细胞瘤"]],[86861,"非淀粉样单克隆免疫球蛋白沉积病",["非淀粉样MIDD"]],[86864,"重链病",["HCD"]],[86867,"淋巴结边缘区B细胞淋巴瘤",["NMZL"]],[86869,"淋巴瘤样肉芽肿",["LYG"]],[86870,"CD4+/CD56+血液皮肤肿瘤",["母细胞性浆细胞样树状突细胞肿瘤"]],[86871,"T细胞幼淋巴细胞白血病",["T细胞慢性淋巴细胞白血病"]],[86872,"T细胞大颗粒淋巴细胞性白血病",["大颗粒淋巴细胞增生"]],[86873,"侵袭性NK细胞白血病",["NK细胞大颗粒淋巴细胞白血病"]],[86875,"成人T细胞白血病/淋巴瘤",["ATLL"]],[86879,"结外鼻型NK/T细胞淋巴瘤",["鼻型T/自然杀伤细胞淋巴瘤"]],[86880,"肠病相关T细胞淋巴瘤",["肠病型T-细胞淋巴瘤"]],[86882,"肝脾T细胞淋巴瘤"],[86884,"皮下脂膜炎样T细胞淋巴瘤",["皮下脂膜炎性T-细胞淋巴瘤"]],[86885,"原发性皮肤外周T细胞淋巴瘤，未分类",["原发性皮肤未分类外周T淋巴细胞白血病"]],[86886,"血管免疫母细胞性T细胞淋巴瘤",["免疫母细胞性淋巴结病"]],[86893,"结节性淋巴细胞为主型霍奇金淋巴瘤",["NLPHL"]],[86896,"组织细胞肉瘤"],[86897,"朗格汉斯细胞肉瘤"],[86900,"指突状树突细胞肉瘤",["指突状树突细胞肉瘤"]],[86902,"滤泡树突状细胞肉瘤"],[86903,"未分类树突细胞肉瘤"],[86904,"甲氨蝶呤相关淋巴增殖性疾病",["MTX相关性淋巴细胞增生性疾病"]],[86906,"下丘脑错构瘤伴痴笑样癫痫"],[86908,"特发性偏侧惊厥-偏瘫综合征",["偏侧惊厥-偏瘫-癫痫综合征"]],[86909,"婴儿肌阵挛癫痫",["婴儿良性肌阵挛型癫痫"]],[86911,"肌阵挛失神性癫痫"],[86913,"非进行性脑病的肌阵挛持续状态",["非进行性脑病的肌阵挛癫痫"]],[86914,"淋巴水肿-脑动静脉异常综合征"],[86915,"淋巴水肿-房间隔缺损-面部改变综合征",["Irons-Bianchi综合征"]],[86917,"弃用：淋巴水肿-腭裂综合征"],[86918,"弥漫性掌跖角化病-肢端发绀综合征",["弥漫性掌跖角化过度-肢端发绀综合征"]],[86919,"掌跖角化病-指弯曲综合征",["掌跖角化病-先天性指侧弯综合征"]],[86920,"网状色素性皮病"],[86923,"遗传性掌跖角化病，Gamborg-Nielsen型",["遗传性掌跖角化过度，Gamborg-Nielsen型"]],[87277,"罕见智力障碍"],[87503,"Meleda角化病",["Transgrediens掌跖角化病Siemens"]],[87876,"唾液酸沉积症2型",["婴儿型异形唾液酸沉积症"]],[87884,"非综合征型遗传性耳聋",["非综合征性遗传性听力丧失"]],[88616,"非综合征型常染色体隐性遗传性智力障碍",["AR-NSID","NS-ARID"]],[88618,"s-腺苷半胱氨酸水解酶缺乏所致精神运动迟缓",["S-腺苷高半胱氨酸水解酶所致高蛋氨酸血症"]],[88619,"家族性急性坏死性脑病",["复发性急性出血性脑白质炎"]],[88620,"孤立型先天性失嗅"],[88621,"鱼鳞病-性早熟综合征",["先天性鱼鳞病4型"]],[88628,"后柱性共济失调-视网膜色素变性综合征",["常染色体隐性遗传性后柱性共济失调-色素性视网膜炎"]],[88629,"蓝色盲",["第三色盲"]],[88630,"远端骨发育不良-色素缺陷综合征"],[88632,"眼前节发育异常",["眼前节发育不良"]],[88633,"上角膜缘角膜结膜炎",["Theodore上缘角膜结膜炎"]],[88635,"空泡性肌病伴肌浆网蛋白聚集",["肌集钙蛋白和SERCA1蛋白超载所致肌病"]],[88636,"主动脉扩张-关节活动过度-动脉迂曲综合征"],[88637,"髓鞘形成低下-促性腺激素性性腺功能减退症-牙发育不全综合征",["4H综合征"]],[88639,"3-羟基异丁酰-辅酶A水解酶缺乏所致神经退行性病变",["缬氨酸代谢障碍"]],[88642,"离子通道病相关先天性无痛症",["离子通道病相关CIP"]],[88643,"肥胖-结肠炎-甲状腺功能减退症-心肌肥厚-发育迟缓综合征"],[88644,"常染色体隐性遗传共济失调，Beauce型",["常染色体隐性遗传性小脑性共济失调1型"]],[88659,"常染色体显性遗传进行性肾病伴高血压"],[88660,"盐皮质激素受体功能性突变所致高血压",["早发性高血压伴孕期恶化"]],[88661,"牙釉质生长不全"],[88673,"肝细胞癌",["HCC"]],[88917,"X连锁Alport综合征"],[88918,"常染色体显性遗传性Alport综合征"],[88919,"常染色体隐性遗传Alport综合征"],[88924,"常染色体显性遗传多囊肾病1型伴结节性硬化症",["结节性硬化/多囊肾相邻基因综合征"]],[88938,"假性醛固酮减少症2A型",["PHA2A"]],[88939,"假性醛固酮减少症2B型",["PHA2B"]],[88940,"假性醛固酮减少症2C型",["PHA2C"]],[88949,"MUC1相关常染色体显性遗传性肾小管间质肾疾病",["肾髓质囊肿病1型"]],[88950,"UMOD相关常染色体显性遗传性肾小管间质肾疾病",["常染色体显性遗传性肾髓质囊肿病2型"]],[88991,"罕见先天性非综合征性心脏畸形"],[88993,"食管畸形"],[89043,"罕见痴呆"],[89826,"罕见皮肤病"],[89832,"弃用：淋巴水肿综合征"],[89833,"掌跖角化病伴张力微管角蛋白"],[89838,"单纯型大疱性表皮松解症，常染色体隐性遗传K14型",["KRT14相关常染色体隐性遗传性单纯型大疱性表皮松解症"]],[89839,"浅表型单纯型大疱性表皮松解症",["EBSS"]],[89840,"交界性大疱性表皮松解症，non-Herlitz型",["JEN-nH"]],[89841,"向心型隐性遗传营养不良型大疱性表皮松解症",["向心型隐性营养不良型大疱性表皮松解症"]],[89842,"隐性营养不良型大疱性表皮松解症，全身型中间型",["泛发性常染色体隐性遗传性营养不良型大疱性表皮松解症"]],[89843,"痒疹样营养不良型大疱性表皮松解症",["痒疹样营养不良型大疱性表皮松解症"]],[89844,"无脑回畸形综合征，Norman-Roberts型",["小头畸形A型"]],[89845,"弃用：特发性胎儿水肿"],[89936,"X-连锁低磷血症",["X-连锁低磷性佝偻病"]],[89937,"常染色体显性遗传低磷性佝偻病",["常染色体显性遗传性低磷血症"]],[89938,"小儿巴特综合征伴感音神经性聋",["小儿Bartter综合征伴感音神经性听力丧失"]],[89939,"欧洲非罕见：高血钾型肾小管性酸中毒",["肾小管性酸中毒4型"]],[90000,"持久性隆起性红斑"],[90001,"X-连锁视锥细胞功能障碍综合征伴近视",["博恩霍姆眼病"]],[90002,"未分化结缔组织综合征",["UCTD"]],[90003,"肝炎性假瘤"],[90020,"肌萎缩侧索硬化症-帕金森症-痴呆综合征",["肌萎缩性脊髓侧索硬化-帕金森症-Guam痴呆综合征"]],[90021,"放射性脊髓炎"],[90022,"弃用：心肌病-肾畸形综合征"],[90023,"LAMTOR2缺乏所致原发性免疫缺陷综合征",["p14缺陷致原发性免疫缺陷综合征"]],[90024,"耳聋伴迷路发育不全小耳和小牙",["耳聋伴迷路发育不全、小耳畸形和小牙症"]],[90025,"非综合征型并指畸形"],[90026,"原发性红斑性肢痛病",["原发性红斑性肢痛症"]],[90030,"谷胱甘肽还原酶缺乏所致溶血性贫血"],[90031,"己糖激酶缺乏型所致非球形细胞溶血性贫血症"],[90033,"温抗体型自身免疫性溶血性贫血",["温抗体型AIHA"]],[90035,"阵发性冷性血红蛋白尿",["Donath-Landsteiner血红蛋白尿"]],[90036,"混合型自身免疫性溶血性贫血",["混合型AIHA"]],[90037,"药物性自身免疫性溶血性贫血",["药物诱导性AIHA"]],[90038,"志贺毒素相关性溶血性尿毒症综合征",["产志贺毒素大肠杆菌相关性溶血性尿毒症综合征"]],[90039,"血红蛋白D病"],[90041,"盖斯伯克综合征",["应激性红细胞增多"]],[90042,"原发性家族性红细胞增多症",["促红素受体突变所致先天性红细胞增多"]],[90044,"家族性假高血钾症"],[90045,"遗传性叶酸吸收障碍",["先天性叶酸盐吸收障碍"]],[90050,"早产儿视网膜病",["晶体后纤维增生症"]],[90051,"早产儿败血症"],[90052,"复发性丙型肝炎病毒所致肝移植受者肝病"],[90053,"造血干细胞移植术后并发症",["HSCT后并发症"]],[90055,"弃用：角膜移植后排斥反应"],[90056,"中重度外伤性脑损伤"],[90058,"脊髓损伤"],[90059,"急性听觉损伤、突发性耳聋或手术所致听觉损伤致急性感音神经性听觉丧失"],[90060,"弥漫性肺泡出血"],[90061,"非感染性后葡萄膜炎",["非感染性脉络膜炎"]],[90062,"急性肝功能衰竭",["暴发性性肝功能衰竭"]],[90064,"急性外周动脉闭塞"],[90065,"获得性动脉瘤蛛网膜下腔出血"],[90066,"铜绿假单胞菌感染性肺炎"],[90068,"可卡因中毒"],[90069,"全身性氯乙酸中毒"],[90070,"弃用：甲氨蝶呤中毒",["氨甲喋呤中毒"]],[90073,"肝移植术后乙型肝炎病毒再感染"],[90076,"深II度和III度烧伤"],[90077,"其他获得性皮肤病"],[90078,"耐万古霉素所致肠球菌侵袭性感染",["VRE所致侵袭性感染"]],[90079,"弃用：蒽环霉素外渗"],[90080,"青光眼滤过手术后瘢痕化"],[90081,"艾滋病消耗综合征"],[90103,"腓骨肌萎缩症-耳聋-智力残疾综合征",["遗传性运动感觉性神经病伴听力丧失、智力障碍及有髓感觉神经纤维缺失"]],[90114,"常染色体显性遗传中间型腓骨肌萎缩症",["CMTDI"]],[90117,"遗传性运动感觉神经病Okinawa型",["遗传性运动感觉性神经病，近端型"]],[90118,"MFN2缺乏所致严重早发轴突性神经病",["常染色体隐性遗传性Charcot-Marie-Tooth病，Ouvrier型"]],[90119,"遗传性运动感觉神经病伴肢端营养不良",["常染色体隐性遗传性轴索型Charcot-Marie-Tooth病伴肢端营养不良"]],[90120,"遗传性运动感觉神经病6型",["遗传性运动感觉神经病6型"]],[90153,"下颌末端发育不良伴脂肪代谢障碍A型"],[90154,"下颌末端发育不良伴脂肪代谢障碍B型"],[90156,"离心性脂肪代谢障碍",["幼儿腹部离心性脂肪营养不良"]],[90157,"药物诱导局限性脂肪代谢障碍",["药物注射后脂肪萎缩"]],[90158,"特发性局限性脂质营养不良"],[90159,"脂膜炎诱导局限性脂肪营养不良"],[90160,"压力诱导局限性脂质营养不良",["半环形脂肪萎缩"]],[90185,"非遗传性晚发型原发性淋巴水肿",["Meige样病"]],[90186,"Meige病",["遗传性淋巴水肿II型"]],[90280,"冻疮样狼疮"],[90281,"盘状红斑狼疮"],[90282,"肥厚性或疣状红斑狼疮"],[90283,"肿胀性红斑狼疮",["间歇性皮肤狼疮"]],[90285,"红斑狼疮性脂膜炎",["深部红斑狼疮"]],[90287,"弃用：斑丘疹性红斑皮疹"],[90289,"局限性硬皮病",["局限性纤维硬皮病"]],[90290,"CREST综合征",["钙化-雷诺现象-食管受累-硬指症-毛细血管扩张综合征"]],[90291,"系统性硬化症",["系统性硬皮病"]],[90301,"黑棘皮病-胰岛素抵抗-肌肉痉挛-肢端肿大综合征"],[90307,"Parkes Weber综合征"],[90308,"Klippel-TrÚnaunay综合征"],[90309,"弃用：埃勒斯-当洛综合征1型",["EDSI型"]],[90318,"弃用：埃勒斯-当洛综合征2型",["EDSII型"]],[90321,"科凯恩综合征1型",["科凯恩综合征I型"]],[90322,"科凯恩综合征2型",["科凯恩综合征II型"]],[90324,"科凯恩综合征3型",["科凯恩综合征III型"]],[90338,"玛格丽特岛外胚层发育不良"],[90339,"弃用： Rosselli-Gulienetti综合征"],[90340,"Blau综合征"],[90341,"早发型结节病"],[90342,"着色性干皮病变异型",["XPV"]],[90345,"弃用：未分型干骺端软骨发育异常"],[90348,"常染色体显性皮肤松弛症",["ADCL"]],[90349,"常染色体隐性遗传皮肤松弛症1型",["常染色体隐性遗传皮肤松弛症伴严重系统性受累"]],[90350,"常染色体隐性遗传皮肤松弛症2型",["皮肤松弛症伴发关节松弛和发育延迟"]],[90354,"脆性角膜综合征"],[90362,"原发性小肠淋巴管扩张",["Waldmann病"]],[90363,"继发性小肠淋巴管扩张"],[90368,"先天性头皮单纯少毛症",["遗传性头皮单纯少毛症"]],[90389,"持久性发疹性斑状毛细血管扩张"],[90390,"甲缺如-甲营养不良综合征"],[90393,"结节性粘液水肿性苔癣",["非典型 Jadassohn-Dosseker结节粘液性水肿"]],[90394,"散发性丘疹性粘液水肿性苔癣"],[90395,"婴儿丘疹性粘蛋白病",["婴儿皮肤粘蛋白病"]],[90396,"肢端持续性丘疹性黏蛋白病"],[90397,"自愈性丘疹性粘蛋白沉积症"],[90398,"混合亚型局限性粘液水肿性苔癣"],[90399,"局限性粘液水肿性苔癣伴单克隆丙种球蛋白病或全身症状"],[90400,"硬化性粘液水肿不伴单克隆丙种球蛋白病"],[90625,"X-连锁非综合征型感音神经性耳聋DFN型",["X-连锁非综合征型感音神经性听觉丧失DFN型"]],[90635,"常染色体显性遗传非综合征性感音神经性聋DFNA型",["常染色体显性遗传非综合征型神经感觉性耳聋DFNA型"]],[90636,"常染色体隐性遗传非综合征性感音神经性聋DFNB型",["常染色体隐性遗传非综合征型神经感觉性耳聋DFNB型"]],[90641,"线粒体非综合征性感音神经性聋",["线粒体非综合征型感音神经性听觉丧失"]],[90642,"综合征性遗传性耳聋",["综合征性遗传性听觉丧失"]],[90646,"耳聋-性腺功能减退综合征",["听觉丧失-性腺功能减退综合征"]],[90647,"Jervell和Lange-Nielsen综合征",["长QT间期-听觉丧失综合征"]],[90649,"口面指综合征7型",["口-面-指综合征7型"]],[90650,"口面指综合征1型",["Taybi综合征"]],[90652,"口面指综合征2型",["OPD综合征II型"]],[90653,"Stickler综合征1型"],[90654,"Stickler综合征2型"],[90658,"腓骨肌萎缩症1E型",["腓骨肌萎缩症-听觉丧失综合征"]],[90673,"TSH受体突变所致甲状腺功能减退"],[90674,"孤立型促甲状腺激素缺乏",["孤立型促甲状腺激素缺乏"]],[90692,"罕见内分泌生长疾病"],[90695,"非获得性全垂体功能减退",["遗传性全垂体功能减退"]],[90771,"性发育异常",["DSD"]],[90776,"胎儿雄激素过多所致女性假两性畸形",["胎儿雄激素过多所致女性假两性畸形"]],[90783,"睾酮合成缺陷所致男性假两性畸形",["睾酮合成缺陷所致男性假两性畸形"]],[90786,"肾上腺和睾丸类固醇生成缺陷所致男性假两性畸形",["肾上腺和睾丸类固醇生成缺陷所致男性假两性畸形"]],[90787,"睾丸类固醇生成缺陷所致男性假两性畸形",["睾丸类固醇生成缺陷所致男性假两性畸形"]],[90790,"STAR缺乏所致先天性类脂性肾上腺皮质增生症",["CLAH"]],[90791,"3β-羟基类固醇脱氢酶缺乏所致先天性肾上腺皮质增生症",["3β-羟基类固醇脱氢酶缺乏所致先天性肾上腺皮质增生"]],[90793,"17α-羟化酶缺乏所致先天性肾上腺皮质增生症",["17-羟化酶/17,20-裂解酶联合缺乏"]],[90794,"21-羟化酶所致经典性先天性肾上腺皮质增生症",["经典21-羟化酶缺乏所致先天性肾上腺皮质增生"]],[90795,"11-β-羟化酶缺乏所致先天性肾上腺皮质增生症",["类固醇11β-羟化酶缺乏所致先天性肾上腺皮质增生"]],[90796,"孤立型17，20-裂解酶缺乏男性假两性畸形"],[90797,"部分性雄激素不敏感综合征",["部分雄激素抵抗综合征"]],[90970,"原发性脂肪代谢障碍"],[91024,"常染色体隐性遗传轴索遗传性运动感觉神经病",["常染色体隐性轴突腓骨肌萎缩症2型"]],[91088,"其他代谢性疾病"],[91127,"免疫力低下病人腺病毒感染"],[91128,"弃用：肺移植术后排斥反应"],[91129,"无眼畸形-心肺异常-智力障碍综合征"],[91130,"心肌病-肌张力低下-乳酸性酸中毒综合征"],[91131,"DK1-先天性糖基化疾病",["多利酚磷酸盐缺乏所致肌张力低下和鱼鳞病"]],[91132,"鱼鳞病-毛发稀少综合征",["鱼鳞病-毛囊性皮肤萎缩-毛发稀少症-少汗症综合征"]],[91133,"骨质减少-近视-听力丧失-智力残疾-面部畸形综合征",["骨质减少-近视-耳聋-智力障碍-面部畸形综合征"]],[91135,"维生素K依赖性凝血因子缺乏所致身体皮肤松弛",["弹性假黄瘤样综合征"]],[91136,"获得性单克隆免疫球蛋白轻链相关性范科尼综合征",["获得性单克隆免疫球蛋白轻链相关的Fanconi综合征"]],[91137,"免疫触须样或纤维性肾小球肾病",["免疫触须样或纤维样肾小球病"]],[91138,"冷球蛋白血症血管炎",["特发性混合性冷球蛋白血症"]],[91139,"单克隆冷球蛋白血症",["冷球蛋白血症1型"]],[91140,"不明青少年特发性关节炎",["不明青少年特发性关节炎"]],[91144,"母源性雄激素过多所致女性假两性畸形",["母源性雄激素过多所致女性假两性畸形"]],[91347,"促甲状腺素分泌型垂体腺瘤",["促甲状腺素分泌型垂体腺瘤"]],[91348,"功能性促性腺腺瘤",["功能性垂体促性腺腺瘤"]],[91349,"非功能性垂体腺瘤",["NFPA"]],[91350,"Rathke囊肿所致腺垂体功能减退"],[91351,"垂体皮样囊肿和表皮样囊肿"],[91352,"中枢神经系统生殖细胞瘤"],[91353,"弃用：迷芽瘤"],[91354,"空泡蝶鞍综合征所致垂体缺陷",["空蝶鞍综合征所致垂体功能减退症"]],[91355,"希恩综合征"],[91357,"双食管"],[91358,"先天性食管憩室",["先天性食管憩室"]],[91359,"婴儿期慢性肺炎",["CPI"]],[91364,"非特异性间质性肺炎",["非特异性特发性间质性肺炎"]],[91365,"弃用：继发性纤毛运动异常",["获得性纤毛运动障碍"]],[91378,"遗传性血管性水肿",["遗传性肺组胺介导血管性水肿"]],[91385,"获得性血管性水肿",["获得性非组胺介导血管性水肿"]],[91387,"家族性胸主动脉瘤和主动脉夹层",["家族性TAAD"]],[91396,"孤立型隐眼症"],[91397,"孤立型丝状睑缘粘连"],[91411,"先天性上睑下垂"],[91412,"Marcus-Gunn综合征",["下颌-眼睑联动-睑下垂综合征"]],[91413,"先天性霍纳综合征",["先天性Claude-Bernard-Horner综合征"]],[91414,"毛母质瘤",["Malherbe钙化上皮瘤"]],[91415,"弃用：家族性毛细血管瘤"],[91416,"孤立型先天性无泪症"],[91481,"角膜环状皮样囊肿",["环状皮样综合征"]],[91483,"Rieger综合征"],[91489,"孤立型先天性巨大角膜",["先天性前巨眼"]],[91490,"特发性先天性巩膜化角膜"],[91491,"先天性葡萄膜外翻"],[91492,"早发性非综合征性白内障"],[91494,"黄斑缺损-腭裂-拇外翻综合征"],[91495,"持续性原始玻璃体增生症",["非综合征性先天性视网膜不附着"]],[91496,"雪花状玻璃体视网膜变性"],[91498,"家族性先天性滑车神经麻痹"],[91500,"肾小管间质性肾炎和葡萄膜炎综合征",["急性肾小管间质性肾炎和葡萄膜炎综合征"]],[91546,"莱姆病",["兰姆氏包柔螺旋体病"]],[91547,"回归热"],[92050,"先天性簇绒肠病",["非综合征型先天性簇绒肠病"]],[93100,"单侧肾缺如"],[93101,"肾发育不全"],[93108,"肾发育不良",["Kidney dysplasia"]],[93109,"先天性巨肾盏"],[93110,"后尿道瓣膜",["PUV"]],[93111,"HNF1B相关常染色体显性肾小管间质性肾病",["肾功能不全-早发型糖尿病综合征"]],[93114,"常染色体显性腓骨肌萎缩症E型",["腓骨肌萎缩症-肾病综合征"]],[93126,"寡免疫复合物型肾小球肾炎"],[93160,"低血钙性抗维生素D佝偻病",["遗传性抗维生素D佝偻病"]],[93164,"一过性假性醛固酮减少症",["继发性假性低醛固酮血症"]],[93172,"单侧肾发育不良",["Kidney dysplasia, unilateral"]],[93173,"双侧肾发育不良",["Kidney dysplasia, bilateral"]],[93176,"单侧先天性巨肾盏"],[93177,"双侧先天性巨肾盏"],[93178,"弃用：部分梨状腹综合征"],[93206,"弃用：激素敏感型原发性肾病综合征伴局灶节段性透明变性",["特发性激素敏感性肾病综合征伴局灶性节段性肾小球硬化"]],[93207,"弃用：激素敏感型原发性肾病综合征伴微小病变",["激素敏感性MCNS"]],[93209,"弃用：激素敏感型原发性肾病综合征伴弥漫性系膜增生"],[93213,"弃用：家族性激素敏感型原发性肾病综合征伴局灶性节段性透明样变性",["家族性特发性抗激素型肾病综合征伴局灶节段性肾小球硬化"]],[93214,"弃用：家族性激素敏感型原发性肾病综合征伴弥漫性系膜增生"],[93216,"弃用：家族性激素敏感型原发性肾病综合征伴微小病变"],[93217,"弃用：家族性激素敏感型原发性肾病综合征伴弥漫性系膜硬化"],[93218,"弃用：散发性激素敏感型原发性肾病综合征伴局灶性节段性透明样变性",["散发性特发性抗激素型肾病综合征伴局灶节段性肾小球硬化"]],[93220,"弃用：散发性激素敏感型原发性肾病综合征伴弥漫性系膜硬化"],[93221,"弃用：散发性激素敏感型原发性肾病综合征伴微小病变"],[93222,"弃用：散发性激素敏感型原发性肾病综合征伴弥漫性系膜增生"],[93256,"脆性X相关震颤/共济失调综合征",["FXTAS综合征"]],[93258,"Pfeiffer综合征1型",["经典Pfeiffer综合征"]],[93259,"Pfeiffer综合征2型"],[93260,"Pfeiffer综合征3型"],[93262,"克鲁宗综合征-黑棘皮病综合征",["Crouzon-皮肤瘢痕综合征"]],[93267,"三叶草状颅-多发性先天性异常综合征"],[93268,"短肋-多指综合征，Beemer-Langer型",["短肋-多指综合征4型"]],[93269,"短肋-多指综合征，Majewski型",["短肋-多指综合征2型"]],[93270,"短肋-多指综合征，Saldino-Noonan型",["短肋-多指综合征1型"]],[93271,"短肋-多指综合征，Verma-Naumoff型",["短肋-多指综合征3型"]],[93274,"致死性侏儒症2型",["三叶草状颅-微骨发育不良综合征"]],[93275,"致死性侏儒症，Glasgow变异型"],[93276,"多骨纤维异常增殖症"],[93277,"单骨纤维异常增殖症",["Jaffe-Lichtenstein病"]],[93279,"COL2A1变异伴早发性关节炎所致轻度脊椎骨骺发育不良"],[93280,"脊椎骨骺发育不良，Omani型"],[93282,"脊椎骨骺发育不良， PAPSS2型",["脊椎干骺端发育不全，Pakistani型"]],[93283,"脊椎骨骺发育不良，Kimberley 型"],[93284,"迟发性脊椎骨骺发育不良"],[93292,"胰腺腺瘤",["胰腺腺瘤"]],[93293,"Okihiro综合征",["Duane-桡侧综合征"]],[93296,"软骨成长不全2型",["软骨成长不全，Langer-Saldino型"]],[93297,"软骨形成不足"],[93298,"软骨成长不全1B型",["软骨成长不全，Parenti-Fraccaro型"]],[93299,"软骨成长不全1A型",["软骨成长不全，Houston-Harris型"]],[93301,"短躯干症，1型 Hobaek 型"],[93302,"短躯干症，Maroteaux型",["短躯干症2型"]],[93303,"短躯干症，1型 Toledo 型"],[93304,"常染色体显性短躯干症",["短躯干症3型"]],[93307,"多发性骨骺发育不良4型",["常染色体显性遗传多发性骨骺发育不良"]],[93308,"多发性骨骺发育不良1型",["多发性骨骺发育不良1型"]],[93311,"多发性骨骺发育不良5型",["双侧遗传性微骨骺发育不良"]],[93313,"弃用：多发性骨骺发育不良，未分类型"],[93314,"脊椎干骺端发育不良， Kozlowski 型"],[93315,"脊椎干骺端发育不良，弯角骨折型",["脊椎干骺端结构不良，Sutcliffe型"]],[93316,"脊椎干骺端发育不良，Schmidt 型",["脊椎干骺端结构不良伴严重膝外翻"]],[93317,"脊椎干骺端发育不良， Sedaghatian 型"],[93320,"尺侧半肢畸形",["先天性尺骨纵向缺失"]],[93321,"桡侧半肢畸形",["先天性桡骨纵向缺失"]],[93322,"胫侧半肢畸形",["先天性胫骨发育不全和发育不良伴腓骨完整"]],[93323,"腓侧半肢畸形",["先天性腓骨纵向缺失"]],[93324,"常染色体隐性遗传性Kenny-Caffey综合征"],[93325,"常染色体显性遗传性Kenny-Caffey综合征"],[93328,"常染色体显性肩胛骨发育不良"],[93329,"常染色体隐性肩胛骨发育不良",["桡骨微发育不良-脱位综合征"]],[93333,"肩胛骨盆发育不良",["家族性骨盆-肩胛骨发育不良"]],[93334,"后端多指趾畸形A型"],[93335,"后端多指趾畸形B型"],[93336,"三节指节拇指并多指",["轴前多指症2型"]],[93337,"多食指畸形",["轴前多指症3型"]],[93338,"多指(趾)并指(趾)畸形",["轴前多指症4型"]],[93339,"双指拇指畸形",["轴前多指症1型"]],[93346,"先天性脊椎骨骺发育不良，Strudwick型"],[93347,"Anauxetic发育不良",["脊椎干骺端发育不良，无刺激型"]],[93349,"X连锁脊椎干骺端发育不良"],[93351,"脊椎干骺端发育不良，Irapa型",["SEMD，Irapa型"]],[93352,"脊椎干骺端发育不良，Shohat型",["SEMD，Shohat型"]],[93356,"脊椎干骺端发育不良，Missouri型",["脊椎干骺端发育不良2型"]],[93357,"Sponastrime型脊椎干骺端发育不全",["脊柱和鼻部变化伴干骺端发育不良，Sponastrime型"]],[93358,"脊椎干骺端发育不良-短肢-异常钙化综合征"],[93359,"脊椎干骺端发育不良伴关节松弛",["脊椎干骺端发育不良伴关节松弛，Beighton型"]],[93360,"脊椎干骺端发育不良伴多发性脱位",["脊椎干骺端发育不良伴多发性脱位，Hall型"]],[93365,"弃用：伴有NLRP3突变的CINCA综合征"],[93367,"弃用：不伴有NLRP3突变的CINCA综合征"],[93372,"家族性低尿钙高血钙症1型",["FFH1型"]],[93382,"短指（趾）畸形A6型",["Osebold-Remondini综合征"]],[93383,"短指（趾）畸形B型"],[93384,"短指（趾）畸形C型"],[93385,"欧洲非罕见：短指（趾）畸形D型"],[93387,"短指（趾）畸形E型"],[93388,"短指（趾）畸形A1型",["短指（趾）畸形，Farabee型"]],[93389,"短指（趾）畸形A5型"],[93393,"欧洲非罕见：短指（趾）畸形A3型",["短指（趾）畸形-先天性指侧弯"]],[93394,"短指（趾）畸形A4型",["短中指（趾）畸形II和V型"]],[93395,"Ballard 综合征",["短指（趾）畸形，B和D融合型"]],[93396,"短指（趾）畸形A2型",["短指（趾）畸形，Mohr-Wriedt型"]],[93397,"短指（趾）畸形A7型",["短指（趾）畸形，Smorgasbord型"]],[93398,"遗传性软骨瘤病2型"],[93399,"青少年唾液酸沉积症2型"],[93400,"先天性唾液酸沉积症2型"],[93402,"并指（趾）畸形1型"],[93403,"并指（趾）畸形2型",["并指（趾）畸形"]],[93404,"并指（趾）畸形3型",["并指（趾）畸形4型和5型"]],[93405,"并指（趾）畸形4型",["并指（趾）畸形，Haas型"]],[93406,"并指（趾）畸形5型",["轴后并指伴掌骨融合"]],[93409,"短指（趾）-并指（趾）畸形，赵型"],[93419,"罕见骨病"],[93420,"FGFR3相关软骨发育不全"],[93421,"胶原蛋白相关骨病2型"],[93422,"胶原蛋白相关骨病11型"],[93423,"硫酸化相关骨病"],[93424,"串珠素相关骨病"],[93425,"细丝蛋白相关骨病",["骨纤维病"]],[93426,"主要累及骨骼的纤毛疾病",["短肋骨发育不良"]],[93427,"弃用：间向性骨发育不良"],[93429,"多发性骨骺发育不良伴假性软骨发育不全"],[93430,"多干骺端发育不良"],[93434,"脊柱干骺发育不良症"],[93435,"弃用：轻度脊柱发育不良"],[93436,"肢端发育不良"],[93437,"肢端肢中发育不全"],[93438,"肢中和肢中根骨发育不良"],[93439,"躯干发育异常及相关疾病",["弯骨发育不良"]],[93440,"骨细长发育不良症"],[93441,"原发性骨发育不良伴多关节脱位",["原发性骨发育不良伴多关节脱位"]],[93442,"点状软骨发育不良",["CDP"]],[93443,"新生儿骨硬化性发育不良"],[93444,"原发性骨发育不良伴骨密度增加",["原发性骨发育不良伴骨密度增加"]],[93445,"弃用：骨病伴骨密度增加并累及干骺端或骨干"],[93446,"原发性骨发育不良伴骨密度降低",["原发性骨发育不良伴骨密度降低"]],[93447,"原发性骨发育不良伴骨矿化缺陷",["原发性骨发育不良伴骨矿化缺陷"]],[93448,"溶酶体贮积病伴骨骼受累",["多发性成骨不全"]],[93449,"原发性骨质溶解"],[93450,"原发性骨发育不良伴骨骼成分发育紊乱",["原发性骨发育不良伴骨骼成分发育紊乱"]],[93451,"锁骨颅骨发育不良伴孤立型颅骨骨化缺陷"],[93452,"弃用：颅缝早闭综合征或颅缝骨化症"],[93453,"骨发育不全伴颅面受累"],[93454,"骨发育不全伴椎体和肋部受累"],[93455,"髌骨发育不全"],[93456,"弃用：短指(趾)畸形类疾病",["短指（趾）畸形伴/不伴骨外表现"]],[93457,"非综合征型肢体短缩畸形",["非综合征性肢体发育不全"]],[93458,"非综合征型多指（趾）和/或并指（趾）"],[93459,"伴关节早闭或其他关节形成缺陷的综合征"],[93460,"过度生长综合征"],[93461,"伴染色体过度生长症"],[93465,"致死性软骨发育不全"],[93466,"弃用：肢带骨异常"],[93469,"弃用：均一型短肢"],[93470,"弃用：非均一型短肢"],[93471,"弃用：骨异常相关多代谢性疾病"],[93472,"弃用：骨异常相关畸形综合征"],[93473,"Hurler综合征",["粘多糖贮积症IH型"]],[93474,"Scheie综合征",["粘多糖贮积症IS型"]],[93476,"Hurler-Scheie综合征",["粘多糖贮积症IH/S型"]],[93545,"肾或尿路畸形",["肾和尿路先天性异常"]],[93546,"非综合征型肾或尿路畸形"],[93547,"综合征型肾或尿路畸形"],[93548,"肾小球疾病"],[93550,"弃用：基底膜病"],[93551,"弃用：继发性肾小球疾病"],[93552,"儿童系统性红斑狼疮",["SLE，儿童期发病"]],[93554,"II型混合性冷沉球蛋白血症",["MC II型"]],[93555,"混合性冷沉球蛋白血症III型",["MC III型"]],[93556,"重链沉积病",["HCDD"]],[93557,"轻-重链沉积病",["LHCDD"]],[93558,"轻链沉积病",["LCDD"]],[93559,"非增生性C3沉积肾小球肾炎"],[93560,"载脂蛋白AI型淀粉样变性",["载脂蛋白A-I突变所致遗传性淀粉样肾病"]],[93561,"溶菌酶型淀粉样变性",["溶菌酶突变所致遗传性淀粉样肾病"]],[93562,"纤维蛋白原α型淀粉样变性",["纤维蛋白原α链突变所致遗传性淀粉样肾病"]],[93564,"弃用：小儿结节性多动脉炎",["PAN, 儿童期发病"]],[93566,"弃用：小儿Sj÷gren综合征"],[93567,"弃用：儿童系统性硬化症",["儿童系统性硬皮病"]],[93568,"幼年型多发性肌炎",["幼年型PM"]],[93569,"风湿性多肌痛",["肢根的假多关节炎"]],[93571,"致密物沉积病",["膜性增生性肾小球肾炎2型"]],[93573,"血栓性微血管病",["TMA"]],[93575,"弃用：非典型溶血性尿毒综合征伴C3异常",["非典型HUS伴C3异常"]],[93576,"弃用：非典型溶血性尿毒综合征伴MCP/CD46异常",["非典型HUS伴MCP/CD46异常"]],[93578,"弃用：非典型溶血性尿毒综合征伴B因子异常",["非典型HUS伴B因子异常"]],[93579,"弃用：非典型溶血性尿毒综合征伴H因子异常",["非典型HUS伴H因子异常"]],[93580,"弃用：非典型溶血性尿毒综合征伴I因子异常",["非典型HUS伴I因子异常"]],[93581,"非典型溶血性尿毒综合征伴抗H因子抗体",["aHUS伴抗H因子抗体的中和自身抗体"]],[93583,"先天性血栓性血小板减少性紫癜",["先天性ADAMTS-13缺乏"]],[93585,"获得性血栓性血小板减少性紫癜",["抗ADAMTS抗体所致血栓性血小板减少性紫癜"]],[93587,"家族性囊性肾病"],[93589,"迟发型肾结核"],[93591,"婴儿型肾结核",["常染色体隐性遗传性婴儿型肾结核"]],[93592,"少年型肾结核"],[93593,"继发于积贮病或其他代谢疾病的肾病"],[93594,"弃用：α-1-抗糜蛋白酶缺乏症"],[93598,"原发性高草酸尿症1型",["过氧化物酶体丙氨酸-乙醛酸氨基转移酶缺乏症"]],[93599,"原发性高草酸尿症2型",["D-甘油酸脱氢酶缺乏症"]],[93600,"原发性高草酸尿症3型"],[93601,"黄嘌呤尿症I型",["黄嘌呤氧化还原酶缺乏症"]],[93602,"黄嘌呤尿症II型",["黄嘌呤脱氢酶和黄嘌呤醛氧化酶双重缺乏症"]],[93603,"罕见肾小管疾病"],[93604,"出生前巴特综合征",["巴特综合征，呋塞米-阿米洛利型"]],[93605,"经典型巴特综合征",["巴特综合征Ⅲ型"]],[93606,"抗利尿不适当肾病综合征",["NSIAD"]],[93607,"常染色体隐性遗传性近端肾小管酸中毒",["AR pRTA"]],[93608,"常染色体显性遗传性远端肾小管酸中毒",["AD dRTA"]],[93609,"常染色体隐性遗传性远端肾小管酸中毒不伴耳聋",["远端肾小管酸中毒1c型"]],[93610,"远端肾小管酸中毒伴贫血",["dRTA伴贫血"]],[93611,"常染色体隐性遗传性远端肾小管酸中毒伴耳聋",["常染色体隐性遗传性远端 RTA伴耳聋"]],[93612,"胱氨酸尿症A型"],[93613,"胱氨酸尿症B型"],[93614,"血液病伴肾脏受累"],[93616,"血红蛋白H病",["中间型α-地中海贫血"]],[93618,"罕见原因高血压"],[93619,"罕见肾肿瘤"],[93622,"Dent病1型",["肾结石1型"]],[93623,"Dent病2型",["肾结石2型"]],[93626,"罕见肾脏疾病"],[93665,"自身炎症综合征"],[93668,"弃用：成人慢性复发性多灶性骨髓炎",["成人CRMO"]],[93672,"幼年皮肌炎",["幼儿DM"]],[93682,"弃用：小儿巨大淋巴结增生症"],[93685,"单中心型Castleman病",["局限性Castleman病"]],[93686,"弃用：多中心型Castleman病",["多中心巨淋巴结增生症"]],[93688,"弃用：非特发性幼年关节炎"],[93890,"罕见胚胎发育缺陷",["畸形综合征"]],[93921,"神经鞘瘤病",["神经纤维瘤病3型"]],[93924,"脑叶性前脑无裂畸形"],[93925,"无脑叶畸形"],[93926,"半球中线变异型前脑无裂畸形",["前脑无裂畸形半球中央变异型"]],[93928,"孤立型尿道上裂"],[93929,"泄殖腔外翻",["脐膨出-泄殖腔外翻-肛门闭锁-脊柱缺损综合征"]],[93930,"膀胱外翻",["典型膀胱外翻"]],[93932,"FG综合征1型",["Opitz-Kaveggia综合征"]],[93937,"弃用：手臂末梢横断缺陷",["先天性截肢"]],[93938,"喉气管食管裂1型",["喉-气管-食管裂1型"]],[93939,"喉气管食管裂2型",["喉-气管-食管裂2型"]],[93940,"喉气管食管裂3型",["喉-气管-食管裂3型"]],[93941,"喉气管食管裂4型",["喉-气管-食管裂4型"]],[93942,"弃用：上部露脏畸形"],[93943,"胼胝体发育不全-垂体功能减退症"],[93944,"X-连锁智力障碍，Fichera型"],[93945,"X-连锁智力障碍，Porteous型"],[93946,"Hamel脑-腭-心综合征"],[93947,"X-连锁智力障碍，Golabi-Ito-Hall型"],[93950,"X-连锁智力障碍，Sutherland-Haan型"],[93951,"弃用：X连锁显性智力障碍-癫痫综合征"],[93952,"X-连锁智力障碍， Hedera型",["MRXSH"]],[93953,"家族性甲状舌管囊肿"],[93955,"弃用：良性特发性眼睑痉挛",["原发性眼睑痉挛"]],[93956,"弃用：躯干肌张力障碍"],[93957,"弃用：肢体肌张力障碍"],[93958,"口下颌肌张力障碍"],[93961,"弃用：喉运动障碍",["痉挛性发音困难"]],[93962,"弃用：颈肌张力障碍"],[93963,"弃用：常染色体显性遗传性局灶性肌张力障碍，DYT7型",["成人发作型原发性性扭转肌张力障碍"]],[93964,"Meige综合征",["Meige综合征"]],[93968,"脑脊膜膨出"],[93969,"脊髓脊膜膨出"],[93970,"Holmes-Gang综合征"],[93971,"Chudley-Lowry-Hoar综合征",["Chudley-Lowry综合征"]],[93972,"Juberg-Marsidi 综合征"],[93973,"Carpenter-Waziri综合征"],[93974,"Smith-Fineman-Myers综合征"],[93975,"Renier-Gabreels-Jasper综合征"],[93976,"无耳畸形"],[94056,"肱尺关节骨性融合",["肱尺关节骨性融合"]],[94058,"新生血管性青光眼"],[94059,"尿毒症性皮肤瘙痒症"],[94061,"弃用：大头-免疫缺陷-贫血综合征"],[94062,"欧洲非罕见：冠心病-高脂血症-高血压-糖尿病-骨质疏松综合征"],[94063,"2q14微缺失综合征",["全身脆性骨硬化-身材矮小-智力障碍综合征"]],[94064,"耳聋-不育综合征",["听力丧失-不育综合征"]],[94065,"15q24微缺失综合征",["15q25单体"]],[94066,"重度智力障碍-癫痫-肛门畸形-远端指骨发育不全综合征"],[94068,"先天性脊柱骨骺发育不良",["先天性脊柱骨骺发育不良"]],[94075,"重型免疫相关肠病",["免疫介导的婴儿拖延性腹泻"]],[94080,"无功能性副神经节瘤",["非分泌性副神经节瘤"]],[94083,"帕廷顿综合征",["X-连锁智力障碍-肌张力障碍-构音困难综合征"]],[94084,"脑-眼-面-淋巴综合征",["Fryns-Aftimos综合征"]],[94086,"蓝色尿布综合征",["家族性高钙血症-肾钙质沉着症-尿蓝母尿综合征"]],[94087,"组织细胞吞噬性脂膜炎",["Winkelmann吞噬性脂膜炎"]],[94088,"遗传性肾性低尿酸血症"],[94089,"假性甲状旁腺功能减退症1B型"],[94090,"假性甲状旁腺功能减退症2型"],[94091,"Mills综合征"],[94093,"神经阻滞剂恶性综合征"],[94095,"脊椎肋骨发育不全-肛门闭锁-泌尿生殖道畸形综合征",["Casamassima-Morton-Nance综合征"]],[94122,"小脑性共济失调，Cayman型",["Cayman共济失调"]],[94124,"脊髓小脑性共济失调伴轴索神经病1型",["SCAN1"]],[94125,"隐性线粒体共济失调综合征",["MIRAS"]],[94145,"常染色体显性遗传性小脑共济失调I型",["常染色体显性遗传性遗传性小脑共济失调1型"]],[94147,"脊髓小脑共济失调7型",["小脑综合征-色素性黄斑病变综合征"]],[94148,"常染色体显性遗传性小脑共济失调III型",["单纯小脑综合征-轻度锥体征综合征"]],[94149,"常染色体显性遗传性小脑共济失调共济失调IV型",["常染色体显性遗传性小脑共济失调4型"]],[94150,"先天性完全性无甲症"],[95157,"急性肝卟啉症"],[95159,"肝性红细胞生成性卟啉病",["HEP"]],[95161,"慢性肝卟啉症"],[95232,"LIS1突变所致无脑回畸形",["PAFAH1B1相关性无脑回畸形"]],[95409,"急性肾上腺皮质功能不全",["急性肾上腺皮质功能减退"]],[95426,"弃用：需要椎管内镇痛的慢性疼痛"],[95427,"继发性短肠综合征"],[95428,"2h型先天性糖基化障碍",["碳水化合物缺乏糖蛋白综合征IIh型"]],[95429,"匐行性血管瘤"],[95430,"先天性气管软化",["先天性主气道塌陷"]],[95431,"双胎输血综合征",["双胎输血综合征"]],[95432,"原发性进行性失语",["Mesulam综合征"]],[95433,"常染色体隐性遗传性脊髓小脑共济失调-盲-聋综合征",["常染色体隐性遗传性脊髓小脑共济失调-盲-失聪综合征"]],[95434,"常染色体隐性小脑共济失调-扫视性侵扰综合征",["SCAR4","SCASI"]],[95443,"中位心",["中位心"]],[95448,"先天性主动脉瓣闭锁"],[95449,"弃用：先天性主动脉瓣关闭不全"],[95455,"Stevens-Johnson综合征/中毒性表皮坏死松解症",["中毒性表皮松解症"]],[95457,"三尖瓣发育不全",["先天性三尖瓣无挡畸形"]],[95459,"先天性三尖瓣狭窄"],[95461,"三尖瓣重迭"],[95462,"三尖瓣副瓣"],[95463,"三尖瓣下结构异常"],[95464,"先天性二尖瓣关闭不全和/或狭窄"],[95465,"二尖瓣裂"],[95474,"双孔二尖瓣"],[95483,"单心室心脏病"],[95484,"弃用：动脉瘤或升主动脉扩张"],[95485,"动脉导管异常",["动脉导管未闭异常"]],[95486,"动脉导管过早闭合",["动脉导管过早闭合"]],[95487,"欧洲非罕见：非典型动脉导管",["不典型动脉导管未闭"]],[95488,"非获得性垂体激素缺乏症"],[95491,"先天性冠状动脉瘤",["先天性冠状动脉瘤"]],[95493,"弃用：冠状动脉起源异常或走行异常"],[95494,"联合垂体激素缺乏症，遗传型",["遗传型多发性垂体激素缺乏症"]],[95495,"非获得性联合垂体激素缺乏症相关疾病"],[95496,"垂体柄中断综合征",["异位神经垂体"]],[95498,"先天性上腔静脉异常",["先天性上腔静脉异常"]],[95499,"先天性下腔静脉异常",["先天性下腔静脉异常"]],[95500,"先天性冠状窦异常"],[95501,"弃用：先天性中枢性尿崩症"],[95502,"获得性垂体激素缺乏症"],[95503,"肿瘤源性垂体激素缺乏症"],[95504,"弃用：转移性垂体激素缺乏症"],[95505,"脑膜源性垂体激素缺乏症"],[95506,"原发性垂体炎",["自身免疫性垂体炎"]],[95507,"肝静脉先天畸形"],[95510,"心耳异常",["心耳异常"]],[95512,"腺垂体炎",["垂体前叶炎"]],[95513,"全垂体炎",["漏斗-全垂体炎"]],[95611,"血管源性垂体激素缺乏症"],[95613,"垂体卒中",["垂体瘤卒中"]],[95614,"弃用：脑膜出血继发垂体功能不全"],[95615,"弃用：动脉瘤继发垂体缺陷"],[95617,"肉芽肿性疾病继发垂体激素缺乏症"],[95618,"积贮病继发垂体激素缺乏症"],[95619,"创伤后垂体缺陷"],[95621,"弃用：术后垂体功能减退"],[95622,"弃用：放疗后垂体功能减退"],[95623,"弃用：创伤后垂体功能减退"],[95625,"弃用：外伤性尿崩症"],[95626,"获得性中枢性尿崩症",["获得性神经性尿崩症"]],[95698,"欧洲非罕见：21-羟化酶缺乏所致非典型先天性肾上腺皮质增生症",["NCAH"]],[95699,"细胞色素P450氧化还原酶缺乏所致先天性肾上腺增生症",["细胞色素POR缺乏所致先天性肾上腺增生症"]],[95700,"家族性肾上腺发育不全伴垂体促黄体生成素缺乏",["家族性肾上腺发育不全伴垂体LH缺乏"]],[95701,"弃用：母源性先天性肾上腺发育不良"],[95702,"先天性巨细胞性肾上腺发育不全",["X染色体连锁遗传先天性肾上腺发育不全"]],[95706,"后尿道下裂",["会阴、阴囊或阴茎阴囊尿道下裂"]],[95707,"特发性孤立性小阴茎"],[95708,"罕见性早熟"],[95709,"获得性卵巢早衰"],[95710,"非获得性卵巢早衰"],[95711,"发育异常所致先天性甲状腺功能减退症",["发育异常所致原发性先天性甲状腺功能减退症"]],[95712,"甲状腺异位"],[95713,"无甲状腺症"],[95714,"原发性先天性甲状腺功能减退症不伴甲状腺发育异常"],[95715,"TSH结合抑制抗体经胎盘所致先天性甲状腺功能减退症"],[95716,"家族性甲状腺激素合成障碍",["甲状腺激素合成障碍"]],[95717,"特发性先天性甲状腺功能减退症"],[95718,"先天性甲状腺畸形不伴甲状腺功能减退"],[95719,"甲状腺偏侧缺如症"],[95720,"甲状腺发育不良"],[95721,"弃用：甲状腺锥体叶"],[95854,"左位心",["左位心伴左右转位"]],[96055,"21四体",["21号等臂染色体"]],[96059,"4号染色体嵌合体",["嵌合型4号染色体三体"]],[96060,"5号染色体嵌合体",["嵌合型4号染色体三体"]],[96061,"8号染色体嵌合体",["嵌合型8号染色体三体"]],[96063,"10号染色体嵌合体",["嵌合型10号染色体三体"]],[96068,"22号染色体嵌合体",["嵌合型22号染色体三体"]],[96069,"1p36远端三体",["1p36端粒重复"]],[96070,"2号染色体短臂远端三体",["2号染色体端粒重复"]],[96071,"3号染色体短臂远端三体",["3号染色体短臂端粒重复"]],[96072,"4p16.3微重复综合征",["4号染色体端粒重复"]],[96074,"7号染色体短臂远端三体",["7号染色体端粒重复"]],[96076,"11p15微重复所致贝克威思-威德曼综合征"],[96078,"16p13.3微重复综合征",["16号染色体短臂端粒重复"]],[96092,"8号染色体短臂倒转复制/缺失综合征",["倒转8号染色体短臂重复/缺失综合征"]],[96094,"2号染色体长臂远端三体",["2号染色体长臂端粒重复"]],[96095,"3q26微重复综合征",["3号染色体长臂重复综合征"]],[96096,"4号染色体长臂远端三体",["4号染色体长臂端粒重复"]],[96097,"5号染色体长臂远端三体",["5号染色体长臂端粒重复"]],[96098,"6号染色体长臂远端三体",["6号染色体长臂端粒重复"]],[96100,"8号染色体长臂远端三体",["8号染色体长臂端粒重复"]],[96101,"9号染色体长臂远端三体",["9号染色体长臂端粒重复"]],[96102,"10号染色体长臂远端三体",["10号染色体长臂端粒重复"]],[96103,"11号染色体长臂远端三体",["11号染色体长臂端粒重复"]],[96105,"13号染色体长臂远端三体",["13号染色体长臂端粒重复"]],[96106,"16号染色体长臂远端三体",["16号染色体长臂端粒重复"]],[96107,"20号染色体长臂远端三体",["20号染色体长臂端粒重复"]],[96109,"22号染色体长臂远端三体",["22号染色体长臂端粒重复"]],[96112,"9号染色体长臂非远端三体",["9号染色体长臂非远端重复"]],[96121,"7q11.23微重复综合征",["7q11.24三体"]],[96123,"22单体",["22号染色体单体缺失"]],[96125,"6号染色体短臂远端单体",["6号染色体短臂亚端粒微缺失综合征"]],[96126,"7号染色体短臂远端单体",["7号染色体短臂端粒缺失"]],[96129,"19p13.3远端单体",["19号染色体短臂端粒缺失"]],[96136,"弃用：7号染色体短臂非远端单体",["7号染色体短臂非端粒单体"]],[96145,"4号染色体长臂远端单体",["4号染色体长臂端粒缺失"]],[96147,"9q34微缺失所致Kleefstra综合征",["9号染色体长臂亚端粒缺失所致Kleefstra综合征"]],[96148,"10号染色体长臂远端单体",["10号染色体长臂端粒缺失"]],[96149,"12号染色体长臂远端单体",["12号染色体长臂端粒缺失"]],[96150,"14号染色体长臂远端单体",["14号染色体长臂端粒缺失"]],[96152,"20号染色体长臂远端单体",["20号染色体长臂端粒缺失"]],[96160,"12号染色体长臂非远端单体",["12号染色体长臂非端粒缺失"]],[96164,"20号染色体长臂非远端单体",["20号染色体长臂非端粒缺失"]],[96167,"8号染色体重组综合征",["8号染色体重组综合征"]],[96168,"13q34单体",["13q34端粒缺失"]],[96169,"Koolen-De Vries 综合征",["KdVS"]],[96170,"Emanuel综合征",["额外22号染色体综合征"]],[96171,"2号环状染色体综合征",["2号环状染色体"]],[96172,"3号环状染色体综合征",["3号环状染色体"]],[96173,"9号环状染色体综合征",["9号环状染色体"]],[96175,"11号环状染色体综合征",["r(11)综合征"]],[96176,"13号环状染色体综合征",["13号环状染色体"]],[96177,"15号环状染色体综合征",["15号环状染色体"]],[96178,"16号环状染色体综合征",["16号环状染色体"]],[96179,"母源性2号染色体单亲二体",["母源性UPD(2)"]],[96180,"母源性4号染色体单亲二体",["母源性UPD(4)"]],[96181,"母源性6号染色体单亲二体",["母源性UPD(6)"]],[96182,"母源性7号染色体单亲二体所致Silver-Russell综合征",["母源性UPD(7)"]],[96183,"母源性9号染色体单亲二体",["母源性UPD(9)"]],[96184,"母源性14号染色体单亲二体所致Temple综合征",["母源性UPD(14)"]],[96185,"母源性16号染色体单亲二体",["母源性UPD(16)"]],[96186,"母源性20号染色体单亲二体",["母源性UPD(20)"]],[96187,"母源性21号染色体单亲二体",["母源性UPD(21)"]],[96188,"母源性22号染色体单亲二体",["母源性UPD(22)"]],[96190,"父源性5号染色体单亲二体",["父源性UPD(5)"]],[96191,"父源性6号染色体单亲二体",["父源性UPD(6)"]],[96192,"父源性7号染色体单亲二体",["父源性UPD(7)"]],[96193,"11号染色体父系单亲二体所致贝克威思-威德曼综合征",["嵌合型父源性11号染色体单亲二倍体"]],[96194,"父源性20号染色体单亲二体",["父源性UPD(20)"]],[96195,"父源性21号染色体单亲二体",["父源性UPD(21)"]],[96201,"小环形X染色体"],[96210,"罕见遗传性耳聋",["罕见遗传性听力丧失"]],[96253,"库欣病",["垂体依赖性库欣综合征"]],[96256,"生长激素腺瘤",["生长激素瘤"]],[96263,"48,XXXY综合征"],[96264,"49,XXXXY综合征"],[96265,"完全LH抵抗所致睾丸间质细胞发育不全",["完全促黄体生成素受体失活所致睾丸间质细胞发育不全"]],[96266,"部分LH抵抗所致睾丸间质细胞发育不全",["部分促黄体生成素抵抗所致47,XY性发育障碍"]],[96269,"孤立型部分阴道发育不全",["先天性阴道缺失"]],[96321,"多倍体"],[96325,"Y等臂染色体"],[96333,"罕见耳鼻喉畸形"],[96334,"父系14号染色体单亲二体型Kagami-Ogata综合征",["父源性UPD(14)"]],[96344,"罕见妇产科疾病"],[96346,"肛门直肠畸形",["ARM"]],[96369,"早发型精神分裂症"],[97120,"远端关节挛缩"],[97214,"艾森曼格综合征"],[97229,"核黄素转运子缺乏症",["感音神经性耳聋-脑桥延髓麻痹综合征"]],[97230,"日光性蕁麻疹"],[97231,"木样结膜炎",["木样结膜炎"]],[97232,"指纹体肌病"],[97234,"磷酸甘油酸变位酶缺乏所致肌糖原贮积症",["磷酸甘油酸变位酶缺乏所致糖原病"]],[97238,"波纹肌肉病"],[97239,"还原体肌病"],[97240,"斑马体肌病"],[97242,"先天性肌营养不良",["CMD","MDC"]],[97244,"强直脊柱综合征",["强直脊柱先天性肌萎缩"]],[97245,"先天性肌病"],[97249,"脑桥小脑发育不全症3型",["小脑萎缩伴进行性小头畸形"]],[97252,"巨大枕大池"],[97253,"胰腺神经内分泌肿瘤",["高分化胰腺神经内分泌肿瘤"]],[97261,"生长激素释放因子肿瘤",["生长激素释放因子肿瘤"]],[97275,"脑炎"],[97278,"胰多肽瘤",["胰多肽瘤"]],[97279,"胰岛素瘤"],[97280,"胰高血糖素瘤",["胰高血糖素瘤综合征"]],[97282,"胰腺瘤",["水样泻-低钾血症-胃酸缺乏综合征"]],[97283,"生长抑素瘤"],[97285,"甲状腺淋巴瘤"],[97286,"Carney-Stratakis综合征",["副神经节瘤并胃间质肉瘤"]],[97287,"支气管神经内分泌肿瘤",["支气管NET"]],[97289,"胸腺神经内分泌癌"],[97290,"家族性乳头状甲状腺癌伴发肾乳头瘤",["PTC-RCC"]],[97292,"心源性休克"],[97293,"罕见良性卵巢肿瘤"],[97295,"Furlong综合征",["马方综合征样体型-颅缝早闭综合征"]],[97297,"Bohring-Opitz综合征",["Opitz三角头畸形样综合征"]],[97330,"胸廓出口综合征",["胸廓出口压迫综合征"]],[97332,"Kienbock病",["月骨无菌性坏死"]],[97335,"奥-施病",["胫骨结节无菌性坏死"]],[97336,"Panner病",["肱骨小头无菌性坏死"]],[97337,"Sinding-Larsen-Johansson病",["髌骨无菌性坏死"]],[97338,"软组织恶性黑色素瘤",["肌腱腱膜透明细胞肉瘤"]],[97339,"硬脑膜窦畸形",["颅硬脑膜动静脉畸形"]],[97340,"Hunter-McAlpine型颅缝早闭症"],[97341,"持续性鳞状黄斑病变"],[97342,"弃用：嗜银颗粒病",["Braak病"]],[97345,"ABri淀粉样变",["英国型家族性痴呆"]],[97346,"ADan淀粉样变",["丹麦型家族性痴呆"]],[97349,"脑炎后帕金森症"],[97352,"糙皮病"],[97353,"拳击员痴呆",["慢性创伤性脑病"]],[97354,"欧洲非罕见：韦尼克脑病",["硫胺素缺乏所致痴呆"]],[97355,"加勒比海帕金森病",["加勒比海非典型帕金森病"]],[97360,"Robinow综合征",["髋关节发育不良伴面部和生殖器异常"]],[97361,"单侧肾发育不全"],[97362,"双侧肾发育不全"],[97363,"多囊性单侧肾发育不全",["单侧多囊肾发育不良"]],[97364,"多囊性双侧肾发育不全",["双侧多囊肾发育不良"]],[97365,"欧洲非罕见：孤立性肾囊肿",["单纯性肾囊肿"]],[97366,"多囊性肾囊肿",["肾脏多房囊肿"]],[97367,"双胞胎输血引起肾小管发育不全"],[97368,"药物相关性肾小管发育不全"],[97369,"遗传性肾小管发育不全"],[97548,"右侧心房异构",["右心耳异构"]],[97552,"未肾活检激素敏感性肾病综合征"],[97555,"弃用：散发特发性激素抵抗型肾病综合征伴塌陷性肾小球病"],[97556,"先天性婴儿肾病综合征"],[97557,"欧洲非罕见：慢性蛋白尿伴局灶节段透明变性",["持续蛋白尿伴局灶和节段性透明变性不伴肾病综合征"]],[97560,"原发性膜性肾小球肾炎",["特发性膜性肾小球肾炎"]],[97562,"欧洲非罕见：良性家族性血尿"],[97563,"ANCA阳性少免疫沉积型肾小球肾炎",["伴抗中性粒细胞胞浆抗体的少免疫沉积型肾小球肾炎"]],[97564,"ANCA阴性少免疫沉积型肾小球肾炎",["抗中性粒细胞胞浆抗体阴性少免疫沉积型肾小球肾炎"]],[97566,"非淀粉样纤维样肾小球病",["刚果红阴性淀粉样变性样肾小球病"]],[97567,"免疫触发性肾小球肾病",["免疫触发性肾小球肾炎"]],[97569,"弃用:未分类肾小球肾炎"],[97593,"假性甲状旁腺功能减退症"],[97598,"先天性肾动脉狭窄",["先天性肾血管发育不良"]],[97599,"弃用：血管炎继发肾动脉狭窄致高血压"],[97668,"弃用:母系中性内肽酶缺乏新生儿膜性肾病"],[97678,"母系13号染色体单亲二体型",["母源性UPD(13)"]],[97685,"17q11微缺失综合征",["神经纤维瘤病1型微缺失综合征"]],[97927,"弃用：外周组织甲状腺激素抵抗综合征"],[97929,"罕见心脏疾病"],[97935,"罕见胃肠疾病"],[97944,"胃畸形"],[97945,"肠道畸形"],[97955,"罕见呼吸性疾病"],[97957,"呼吸系统或胸部畸形"],[97962,"罕见胸外科疾病"],[97965,"罕见心脏外科疾病"],[97966,"罕见视力异常"],[97978,"罕见内分泌疾病"],[97992,"罕见血液系统疾病"],[98004,"罕见免疫系统疾病"],[98006,"罕见神经系统疾病",["罕见神经系统疾病"]],[98010,"累及神经系统传染病"],[98022,"罕见头痛"],[98023,"罕见系统性疾病或风湿病"],[98026,"罕见口腔疾病"],[98027,"伴口腔累及的罕见疾病"],[98028,"罕见循环系统疾病"],[98033,"伴精神异常的罕见神经疾病"],[98036,"罕见耳鼻咽喉疾病"],[98038,"颅畸形"],[98039,"消化道畸形"],[98041,"肝脏/胆道/胰腺/脾脏引起内脏畸形"],[98043,"膈肌或腹壁畸形"],[98044,"中枢神经系统畸形"],[98045,"呼吸道或纵隔畸形"],[98047,"罕见不育症"],[98048,"罕见男性不育症"],[98049,"罕见女性不孕症"],[98050,"罕见过敏性疾病",["罕见过敏"]],[98052,"罕见呼吸过敏性疾病",["罕见呼吸系统过敏"]],[98053,"罕见遗传性疾病"],[98054,"罕见遗传性心脏病"],[98056,"罕见遗传性肾病"],[98057,"罕见肿瘤",["罕见肿瘤"]],[98058,"罕见泌尿道肿瘤",["罕见泌尿道肿瘤"]],[98059,"罕见消化道肿瘤",["罕见消化道肿瘤"]],[98060,"罕见呼吸道肿瘤",["罕见呼吸道肿瘤"]],[98061,"罕见耳鼻喉肿瘤",["罕见ORL癌"]],[98062,"罕见神经系统肿瘤",["罕见神经系统肿瘤"]],[98063,"罕见妇科肿瘤",["罕见妇科肿瘤"]],[98064,"弃用：物理医学与康复有关罕见病"],[98068,"弃用：多谷氨酰胺异常致常染色体显性失调遗传脊髓小脑性共济失调"],[98069,"弃用：离子通道病致常染色体显性脊髓小脑共济失调遗传病"],[98070,"弃用：不编码多聚谷氨酰胺重复扩张致常染色体显性遗传脊髓小脑性共济失调"],[98071,"弃用：点突变致常染色体显性遗传脊髓小脑性共济失调"],[98073,"弃用：未分类常染色体显性遗传脊髓小脑性共济失调"],[98074,"妇科性腺发育不全"],[98078,"雄激素过量所致46,XX假两性畸形",["雄激素过量所致46,XX DSD"]],[98085,"46,XY性发育异常",["46,XY DSD"]],[98086,"外周组织睾酮代谢缺陷所致46,XY性发育异常"],[98087,"46,XY性发育异常综合征",["伴46,XY DSD的综合征"]],[98095,"常染色体隐性遗传先天性小脑共济失调"],[98096,"常染色体隐性遗传代谢性小脑共济失调"],[98097,"DNA修复缺陷所致常染色体隐性遗传小脑共济失调"],[98098,"常染色体隐性遗传退行性进行性小脑共济失调"],[98099,"常染色体隐性遗传综合性小脑共济失调"],[98101,"弃用：孔-环离子通道"],[98102,"弃用：内向整流钾离子通道缺陷离子通道病"],[98103,"弃用：电压-门控钾通道缺陷离子通道病"],[98104,"弃用：瞬时受体电位通道缺陷离子通道病"],[98105,"弃用：环核苷酸门控通道缺陷离子通道病"],[98106,"弃用：钙激活钾离子通道缺陷离子通道病"],[98107,"弃用：电压门控钠通道缺陷离子通道病"],[98108,"弃用：电压门控钙通道缺陷离子通道病"],[98109,"弃用：非孔-环离子通道病"],[98110,"弃用：上皮细胞钠离子通道缺陷离子通道病"],[98111,"弃用：骨骼肌肌浆网钙释放通道缺陷离子通道病"],[98112,"弃用：心肌肌浆网钙释放通道缺陷所致离子通道病"],[98113,"弃用：上皮细胞氯离子通道CFTR异常所致非孔-环离子通道病"],[98114,"弃用：上皮细胞氯离子通道斑萎蛋白异常所致非孔-环离子通道病"],[98115,"弃用：氯离子通道骨骼肌Clc1亚型异常所致非孔-环离子通道病"],[98116,"弃用：氯离子通道Clc2亚型异常所致非孔-环离子通道病"],[98117,"弃用：氯离子转运体肾Clc5亚型异常所致非孔-环离子通道病"],[98118,"弃用：氯离子转运体Clc7亚型异常所致非孔-环离子通道病"],[98119,"弃用：氯离子通道肾CLCKA和CLCKB异常所致非孔-环离子通道病"],[98120,"弃用：氯离子通道barttin异常所致非孔-环离子通道病"],[98121,"弃用：半胱氨酸-环受体离子通道病"],[98122,"弃用：神经元甘氨酸受体缺陷离子通道病"],[98123,"弃用：神经元肾GABA受体缺陷离子通道病"],[98124,"弃用：骨骼肌乙酰胆碱受体缺陷离子通道病"],[98125,"弃用：神经元乙酰胆碱受体缺陷离子通道病"],[98127,"常染色体异常"],[98130,"常染色体三体",["常染色体重复"]],[98131,"全部常染色体三体"],[98132,"部分常染色体三体/四体"],[98141,"全部常染色体单体"],[98142,"部分常染色体单体",["部分常染色体缺失"]],[98152,"常染色体单亲二体"],[98153,"母源性单亲二体"],[98154,"父源性单亲二体"],[98155,"性染色体异常",["异染色体异常"]],[98156,"性染色体数量异常",["异染色体数量异常"]],[98157,"性染色体结构异常",["异染色体结构异常"]],[98158,"Y染色体结构异常"],[98159,"X染色体结构异常"],[98167,"弃用：胰腺外分泌瘤相关性糖尿病"],[98196,"畸形综合征伴错构瘤病",["伴斑痣性错构瘤病的畸形病"]],[98203,"复合性肌张力障碍",["肌张力障碍附加综合征"]],[98204,"弃用：以肌张力障碍为主要表现遗传退行性疾病"],[98249,"Ehlers-Danlos综合征",["EDS"]],[98252,"传染性脑炎"],[98253,"感染后脑炎"],[98255,"慢性脑炎"],[98257,"新生儿癫痫综合征"],[98258,"婴幼儿癫痫综合征"],[98259,"儿童早发型癫痫综合征"],[98260,"成人迟发型癫痫综合征"],[98261,"进行性肌阵挛性癫痫",["进行性肌阵挛癫痫"]],[98267,"遗传性非综合征型肥胖",["瘦素-黑皮质素通路异常所致单基因性肥胖"]],[98274,"骨髓增殖性肿瘤",["骨髓增生病"]],[98275,"骨髓增生异常/骨髓增殖性疾病"],[98277,"急性髓系白血病伴重现性遗传学异常",["AML伴复发性遗传学异常"]],[98282,"浆细胞肿瘤"],[98287,"组织细胞和树突状细胞肿瘤"],[98288,"巨噬细胞或组织细胞肿瘤"],[98289,"树突状细胞肿瘤"],[98290,"免疫缺陷相关淋巴增殖性疾病"],[98291,"原发性免疫疾病相关淋巴增殖性疾病"],[98292,"肥大细胞增多症"],[98293,"霍奇金淋巴瘤"],[98296,"弃用：角质化包膜形成和表皮脂质代谢异常相关鱼鳞病"],[98297,"弃用：蛋白分解代谢异常相关鱼鳞病"],[98298,"弃用：过氧化氢酶体相关鱼鳞病"],[98299,"弃用：核苷酸切除修复异常相关鱼鳞病"],[98300,"特发性间质性肺炎"],[98301,"核纤层蛋白病"],[98305,"遗传性脂肪营养不良"],[98306,"家族性部分脂肪营养不良",["FPLD"]],[98307,"获得性脂肪营养不良"],[98309,"弃用：男性不育症伴男性第二性征缺陷"],[98310,"弃用：下丘脑或垂体障碍所致男性不育症伴男性第二性征缺陷"],[98311,"弃用：高催乳素血症相关下丘脑或垂体障碍所致男性不育症伴男性第二性征缺陷"],[98312,"弃用：睾丸异常所致男性不育症伴男性第二性征缺陷"],[98313,"性腺发育不全所致男性不育症",["睾丸发育不全所致男性不育症"]],[98314,"弃用：获得性睾丸缺失所致男性不育症伴男性第二性征缺陷"],[98315,"弃用：病毒性睾丸炎所致男性不育症伴男性第二性征缺陷"],[98316,"弃用：创伤相关获得性睾丸缺失所致男性不育症伴男性第二性征缺陷"],[98317,"弃用：药物相关获得性睾丸缺失所致男性不育症伴男性第二性征缺陷"],[98318,"弃用：环境毒性相关获得性睾丸缺失所致男性不育症伴男性第二性征缺陷"],[98319,"弃用：自身免疫相关获得性睾丸缺失所致男性不育症伴男性第二性征缺陷"],[98320,"弃用：肉芽肿病相关获得性睾丸缺失所致男性不育症伴男性第二性征缺陷"],[98321,"弃用：系统性疾病相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98322,"弃用：肾衰相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98323,"弃用：肝病相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98324,"弃用：慢性疾病相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98325,"弃用：甲状腺毒症相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98326,"弃用：免疫紊乱相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98327,"弃用：神经疾病相关睾丸异常所致男性不育症伴男性第二性征缺陷"],[98328,"弃用：男性不育症伴正常第二性征"],[98329,"弃用：下丘脑或垂体障碍所致男性不育症伴正常第二性征"],[98330,"弃用：雄激素使用所致男性不育症伴正常第二性征"],[98331,"弃用：睾丸缺失所致男性不育症伴正常第二性征"],[98332,"弃用：发育或结构睾丸缺陷所致男性不育症伴正常第二性征"],[98333,"弃用：隐睾相关发育或结构睾丸缺陷所致男性不育症伴正常第二性征"],[98334,"弃用：精索静脉曲张相关发育或结构睾丸缺陷所致男性不育症伴正常第二性征"],[98335,"弃用：获得性睾丸缺陷所致男性不育症伴正常第二性征"],[98336,"弃用：支原体感染相关获得性睾丸缺陷所致男性不育症伴正常第二性征"],[98337,"弃用：辐射相关获得性睾丸缺陷所致男性不育症伴正常第二性征"],[98338,"弃用：药物相关获得性睾丸缺陷所致男性不育症伴正常第二性征"],[98339,"弃用：环境毒性相关获得性睾丸缺陷所致男性不育症伴正常第二性征"],[98340,"弃用：自身免疫相关获得性睾丸缺陷所致男性不育症伴正常第二性征"],[98341,"弃用：系统性疾病所致男性不育症伴正常第二性征"],[98342,"弃用：脊髓损伤相关睾丸缺陷所致男性不育症伴正常第二性征"],[98343,"梗阻性无精子症所致男性不育症",["精子运输障碍所致男性不育症"]],[98345,"罕见特发性男性不育症"],[98349,"常染色体显性遗传性孤立型弥漫性掌跖角化病",["常染色体显性遗传性孤立性弥漫性掌跖角化过度"]],[98352,"以弥漫性掌跖角化为主要表现的常染色体显性遗传性疾病",["以弥漫性掌跖角化过度为主要表现的常染色体显性遗传性疾病"]],[98353,"以局灶掌跖角化为主要表现的常染色体显性遗传性疾病",["以局灶性掌跖角化过度为主要表现的常染色体显性遗传性疾病"]],[98356,"常染色体隐性遗传性孤立型弥漫性掌跖角化病",["常染色体隐性遗传性孤立性弥漫性掌跖角化过度"]],[98357,"以局灶掌跖角化为主要表现的常染色体隐性遗传性疾病",["以局灶性掌跖角化过度为主要表现的常染色体隐性遗传性疾病"]],[98360,"铁代谢异常所致造血成分相关性贫血"],[98362,"原发性铁粒幼细胞性贫血"],[98363,"罕见溶血性贫血"],[98364,"红细胞膜异常所致罕见原发性溶血性贫血"],[98365,"遗传性口形细胞增多症",["遗传性口形细胞增多病"]],[98366,"棘红细胞增多症所致先天性溶血性贫血",["棘红细胞增多病所致先天性溶血性贫血"]],[98369,"酶异常所致罕见原发性溶血性贫血"],[98370,"磷酸己糖分流和谷胱甘肽代谢异常所致溶血性贫血"],[98372,"糖酵解酶异常所致溶血性贫血"],[98374,"红细胞核苷酸代谢紊乱所致溶血性贫血",["红细胞酶病所致溶血性贫血"]],[98375,"自身免疫性溶血性贫血",["自免溶贫"]],[98396,"维生素B12代谢紊乱所致原发性巨幼细胞贫血"],[98408,"叶酸代谢障碍所致原发性巨幼细胞贫血"],[98415,"维他命B12和叶酸代谢紊乱原发性巨幼细胞贫血"],[98421,"红细胞再生障碍",["Primary autoimmune red cell aplasia"]],[98427,"红细胞增多症"],[98428,"继发性红细胞增多症",["继发性红细胞增多症"]],[98429,"罕见凝血障碍"],[98434,"遗传性维生素K依赖性凝血因子复合缺乏症",["遗传性II/VII/IX/X因子复合缺乏症"]],[98435,"弃用：蛋白酶抑制剂异常"],[98454,"弃用：血小板贮存池病",["SPD"]],[98455,"阿尔法颗粒病"],[98456,"致密颗粒病",["Delta颗粒病"]],[98464,"X连锁智力障碍综合征"],[98468,"弃用：细胞外基质蛋白异常所致先天性肌营养不良"],[98469,"弃用：糖基转移酶异常所致先天性肌营养不良"],[98470,"弃用：内质网蛋白异常所致先天性肌营养不良"],[98472,"骨骼肌疾病"],[98473,"肌营养不良"],[98482,"特发性炎症肌病",["特发性炎性肌炎"]],[98486,"代谢性肌病"],[98491,"神经肌肉接头疾病"],[98494,"获得性神经肌肉接头疾病"],[98495,"遗传性神经肌肉接头疾病"],[98496,"罕见周围神经系统疾病"],[98497,"遗传性周围神经系统疾病"],[98503,"运动神经元病",["前角细胞病"]],[98505,"遗传性运动神经元病",["遗传性前角细胞病"]],[98506,"获得性运动神经元病",["获得性前角细胞病"]],[98514,"小脑蚓部畸形"],[98516,"小脑半球畸形"],[98518,"颅神经与核发育不全"],[98519,"后颅窝畸形"],[98520,"弃用：后颅窝囊性畸形"],[98523,"非综合征型脑桥小脑发育不全",["脑桥小脑发育不全"]],[98527,"弃用：Tau蛋白病"],[98528,"弃用：Tau蛋白病伴非阿尔兹海默非皮克病额叶退行性变"],[98529,"弃用：60 kDa,64 kDa和69 kDa三峰型Tau蛋白病"],[98530,"弃用：64 kDa和69 kDa双峰型Tau蛋白病"],[98531,"弃用：60 kDa和64 kDa双峰型Tau蛋白病"],[98532,"弃用：60 kDa单峰型Tau蛋白病"],[98534,"神经退行性疾病伴痴呆"],[98535,"额颞叶变性伴痴呆"],[98538,"共济失调伴痴呆"],[98539,"早发性共济失调伴痴呆"],[98540,"迟发性共济失调伴痴呆"],[98542,"传染病伴痴呆"],[98543,"代谢性疾病伴痴呆"],[98544,"脑脂质沉淀症伴痴呆"],[98549,"罕见脑血管性伴痴呆"],[98553,"眼发育缺陷"],[98554,"弃用：主要诱导过程眼异常"],[98555,"小眼-无眼-缺损",["无眼-小眼综合征"]],[98557,"综合征性无虹膜症"],[98558,"弃用：分化异常所致罕见眼疾病"],[98559,"弃用：罕见眼睑，泪腺系统和结膜病"],[98560,"罕见眼睑障碍"],[98561,"眼睑先天畸形"],[98562,"隐眼"],[98563,"小眼睑-无睑畸形综合征"],[98564,"眼睑边缘异常"],[98565,"综合征性丝状睑缘粘连",["综合征性睑缘粘连"]],[98566,"综合征性睑缺损",["综合征性睑缺损"]],[98567,"罕见眼睑错位症",["眼睑错位症"]],[98568,"弃用：先天性眼睑外翻"],[98569,"弃用：继发性眼睑外翻"],[98570,"先天性眼睑外翻"],[98571,"继发性眼睑外翻"],[98572,"弃用：眦异常"],[98573,"弃用：内眦赘皮"],[98574,"内眦赘皮综合征"],[98575,"综合征型内眦距过宽"],[98576,"综合征型外眼睑错位",["外眦错位"]],[98577,"弃用：动力学眼睑异常"],[98578,"罕见眼睑下垂"],[98579,"弃用：先天性眼睑上回缩"],[98580,"弃用：眼睑肿瘤"],[98581,"弃用：眼睑表皮肿瘤"],[98582,"弃用：眼睑上皮良性肿瘤"],[98583,"弃用：眼睑上皮癌前病变"],[98584,"弃用：眼睑上皮恶性肿瘤"],[98585,"弃用：眼睑皮脂腺瘤"],[98586,"弃用：色素眼睑肿瘤"],[98587,"弃用：眼睑着色斑病"],[98588,"弃用：眼睑色素痣"],[98589,"弃用：眼睑恶性黑色素瘤"],[98590,"弃用：眼睑乳头瘤"],[98591,"弃用：间叶细胞样眼睑肿瘤"],[98592,"弃用：眼睑肿瘤伴血管畸形"],[98593,"神经性眼睑肿瘤"],[98594,"罕见眉/睫毛紊乱",["罕见眉/睫毛异常"]],[98595,"弃用：眉/睫毛多毛症"],[98596,"弃用：眉毛过度生长"],[98597,"弃用：睫毛过度生长",["睫毛粗长症"]],[98598,"弃用：先天性无眉/睫毛"],[98599,"弃用：眉/睫毛结构异常"],[98600,"弃用：眉/睫毛双行睫"],[98601,"弃用：眉/睫毛色素沉着异常"],[98602,"罕见泪器异常",["罕见泪道系统病"]],[98603,"弃用：泪道系统分泌异常"],[98604,"先天性无泪症"],[98605,"泪液排泄系统异常",["泪道系统排泄器异常"]],[98606,"综合征性眼眶缘发育不全",["Urrets-Zavalia综合征"]],[98608,"弃用：泪腺系统器官分泌和排泄异常"],[98609,"EEC综合征及其相关性疾病",["EEC综合征及其相关综合征"]],[98610,"罕见结膜受累为主要表现疾病"],[98611,"弃用：结膜血管异常"],[98612,"弃用：结膜血管瘤或血管淋巴管瘤"],[98613,"弃用：结膜毛细血管扩张"],[98614,"弃用：结膜淋巴管扩张"],[98615,"弃用：色素结膜损伤"],[98616,"弃用：结膜肿瘤"],[98617,"弃用：球结膜皮样或结膜皮脂瘤"],[98618,"罕见折光异常"],[98619,"罕见单纯性近视"],[98620,"弃用：综合征型近视"],[98621,"罕见远视和散光"],[98622,"综合征型远视"],[98623,"综合征性圆锥角膜"],[98625,"浅层角膜营养不良",["角膜前部营养不良"]],[98626,"基质角膜营养不良"],[98627,"后角膜营养不良"],[98628,"综合征型角膜营养不良"],[98629,"弃用：罕见青光眼"],[98631,"以青光眼为特征先天性眼畸形"],[98632,"弃用：神经嵴细胞迁徙异常青光眼"],[98633,"弃用：前房角发育不全"],[98634,"无眼外表现眼球前区发育异常"],[98635,"角膜发育不全",["角膜前房角发育不全"]],[98636,"弃用：虹膜前房角发育不全"],[98637,"弃用：因增殖和分化异常所致继发性青光眼"],[98638,"青光眼为特征型罕见疾病"],[98639,"罕见晶体疾病"],[98640,"罕见晶状体混浊疾病",["罕见白内障"]],[98641,"综合征型白内障"],[98642,"染色体异常伴白内障"],[98643,"弃用：系统性疾病伴白内障"],[98644,"代谢性疾病伴白内障"],[98645,"弃用：脑疾病伴白内障"],[98646,"肾脏疾病伴白内障"],[98647,"弃用：心脏疾病伴白内障"],[98648,"肌肉骨骼疾病伴白内障"],[98649,"牙皮肤疾病伴白内障"],[98650,"颅面异常伴白内障"],[98652,"晶状体尺寸异常"],[98653,"晶状体位置异常"],[98655,"晶状体形状异常"],[98657,"弃用：遗传性玻璃质-视网膜疾病"],[98658,"颜色-视觉疾病"],[98661,"综合征性视杆-视锥萎缩",["综合征性色素沉着性视网膜炎"]],[98662,"弃用：未分类家族性视网膜营养不良"],[98664,"弃用：遗传性黄斑营养不良"],[98665,"弃用：眼缺损和乳晕营养不良"],[98666,"弃用：未分类原发性或继发性黄斑病变"],[98667,"弃用：疾病诱发老年性黄斑退化症"],[98668,"玻璃体视网膜病变"],[98669,"弃用：先天性玻璃体发育不良"],[98670,"弃用： 玻璃体视网膜变性"],[98671,"遗传性视神经病变"],[98672,"常染色体显性遗传视神经萎缩",["ADOA","DOA"]],[98673,"常染色体显性遗传视神经萎缩经典型",["Kjer型常染色体显性遗传视神经萎缩"]],[98675,"弃用： 常染色体隐性遗传视神经萎缩"],[98676,"常染色体隐性遗传孤立型视神经萎缩",["常染色体隐性非综合征性视神经萎缩"]],[98677,"弃用：常染色体隐性遗传视神经萎缩综合征"],[98678,"弃用：X-连锁隐性遗传视神经萎缩"],[98681,"罕见斜视障碍"],[98682,"欧洲非罕见：特发性斜视"],[98683,"斜视综合征障碍",["伴症状性斜视的综合征"]],[98684,"斜视狭颅症"],[98685,"罕见动眼神经症"],[98686,"先天性滑车神经麻痹",["先天性第四颅神经麻痹"]],[98687,"核上性眼球运动障碍"],[98688,"动眼运动异常"],[98689,"弃用：眼受累肌病"],[98690,"弃用：眼受累肌无力综合征"],[98691,"弃用：眼球运动异常"],[98692,"弃用：眼受累神经系统异常"],[98693,"弃用：脊髓小脑性共济失调与动眼神经异常"],[98694,"弃用：脊髓小脑变性和痉挛性截瘫伴眼球运动异常"],[98695,"弃用：线粒体疾病伴眼受累"],[98696,"弃用：遗传性皮肤病伴眼特征"],[98697,"弃用：遗传性角化异常相关性眼特征"],[98698,"弃用：鱼鳞病相关性眼特征"],[98699,"弃用：鱼鳞病综合征相关性眼特征"],[98700,"弃用：色素沉着障碍伴眼受累"],[98701,"弃用：斑痣性错构瘤病伴眼受累"],[98702,"弃用：结缔组织病伴眼受累"],[98703,"弃用：潜在肿瘤退化病相关性眼特征"],[98704,"弃用：甲床-髌骨综合征伴眼受累"],[98706,"眼皮肤或眼白化病"],[98708,"弃用：排除白化病眼受累色素沉着症"],[98709,"弃用：外胚叶畸形综合征相关性眼特征"],[98710,"弃用：代谢性疾病相关性眼特征"],[98711,"弃用：角膜混浊代谢性疾病"],[98712,"弃用：白内障代谢性疾病"],[98713,"弃用：色素性视网膜炎代谢性疾病"],[98714,"弃用：黄斑樱桃红点代谢性疾病"],[98715,"葡萄膜炎"],[98716,"心脏位置异常"],[98717,"大血管和心脏圆锥动脉干畸形错位"],[98718,"主动脉畸形"],[98719,"肺动脉或肺动脉分支异常"],[98720,"房室瓣异常"],[98721,"先天性三尖瓣畸形"],[98722,"房室间隔缺损",["房室管缺损"]],[98723,"右心发育不全综合征"],[98724,"大动脉先天性畸形",["先天性主动脉、主动脉弓或肺动脉异常"]],[98725,"升主动脉异常"],[98726,"弃用：肺动脉/肺动脉分支异常"],[98727,"罕见心房缺损和心房间连通",["心房缺损并心耳间交通"]],[98729,"先天性肺静脉异常"],[98730,"弃用：房室不协调"],[98731,"先天性动静脉瘘"],[98732,"弃用：先天性心脏病相关综合征"],[98733,"努南综合征和努南相关综合征"],[98734,"弃用：心脏骨骼综合征"],[98736,"弃用：遗传性神经系统离子通道病"],[98737,"遗传性神经肌肉通道病"],[98738,"遗传性钠通道缺陷所致神经肌肉离子通道病"],[98739,"遗传性氯通道缺陷所致神经肌肉离子通道病"],[98740,"遗传性钙通道缺陷所致神经肌肉离子通道病"],[98741,"遗传性钾通道缺陷所致神经肌肉离子通道病"],[98742,"遗传性RyR受体缺陷所致神经肌肉离子通道病"],[98743,"中枢神经系统遗传性神经离子通道病"],[98744,"遗传性钠通道缺陷所致神经离子通道病"],[98745,"遗传性氯通道缺陷所致神经离子通道病"],[98746,"遗传性钙通道缺陷所致神经离子通道病"],[98747,"遗传性甘氨酸受体缺陷所致神经离子通道病"],[98748,"遗传性乙酰胆碱受体缺陷所致神经离子通道病"],[98749,"遗传性GABA受体缺陷所致神经离子通道病"],[98750,"自身免疫性神经离子通道病"],[98751,"P/Q型电压门控钙通道缺陷所致自身免疫性神经离子通道病"],[98752,"钾通道缺陷所致自身免疫性神经离子通道病"],[98753,"乙酰胆碱受体亚基缺陷所致自身免疫性神经离子通道病"],[98754,"15号染色体母源单亲二体型Prader-Willi综合征",["母源性UPD(15)"]],[98755,"脊髓小脑共济失调1型",["SCA1"]],[98756,"脊髓小脑共济失调2型",["SCA2"]],[98757,"脊髓小脑共济失调3型",["黑质-脊髓-齿变性伴核性眼肌麻痹"]],[98758,"脊髓小脑共济失调6型",["SCA6"]],[98759,"脊髓小脑共济失调17型",["亨廷顿病样疾病4型"]],[98760,"脊髓小脑共济失调8型",["SCA8"]],[98761,"脊髓小脑共济失调10型",["SCA10"]],[98762,"脊髓小脑共济失调12型",["SCA12"]],[98763,"脊髓小脑共济失调14型",["SCA14"]],[98764,"脊髓小脑共济失调27型",["SCA27"]],[98765,"脊髓小脑共济失调4型",["SCA4"]],[98766,"脊髓小脑共济失调5型",["SCA5"]],[98767,"脊髓小脑共济失调11型",["SCA11"]],[98768,"脊髓小脑共济失调13型",["SCA13"]],[98769,"脊髓小脑共济失调15/16型",["SCA15/16"]],[98770,"脊髓小脑共济失调16型",["SCA16"]],[98771,"脊髓小脑共济失调18型",["SCA18"]],[98772,"脊髓小脑共济失调19/22型",["SCA19/22"]],[98773,"脊髓小脑共济失调21型",["SCA21"]],[98784,"常染色体显性遗传夜间额叶癫痫",["常染色体显性遗传睡眠相关过度运动性癫痫"]],[98788,"Pitt-Rogers-Danks综合征",["智力障碍-畸形-宫内发育迟缓综合征"]],[98791,"16号染色体连锁α-地中海贫血-智力障碍综合征",["缺失型α-地中海贫血-智力障碍综合征"]],[98793,"父源15q11q13缺失型普拉德-威利综合征"],[98794,"母源15q11q13缺失型天使综合征",["母源性15q11q13单体所致天使综合征"]],[98795,"15号染色体父源单亲二体型天使综合征",["父源性UPD(15)"]],[98797,"短臂等臂Y染色体"],[98798,"长臂等臂Y染色体"],[98805,"原发性肌张力障碍DYT4型",["遗传性耳语言语障碍"]],[98806,"原发性肌张力障碍DYT6型",["广泛性颈和上肢发作性肌张力障碍"]],[98807,"原发性肌张力障碍DYT13型",["主要为颅颈或上肢发作的原发性扭转肌张力障碍"]],[98808,"常染色体显性遗传多巴反应性肌张力障碍",["昼夜波动明显的遗传性进行性肌张力障碍"]],[98809,"阵发性运动诱发性运动障碍",["家族性阵发性非运动诱发性运动障碍"]],[98810,"阵发性非运动诱发性运动障碍",["阵发性非运动诱发性舞蹈症"]],[98811,"阵发性劳力诱发性运动障碍",["肌张力障碍18型"]],[98812,"阵发性睡眠诱发性运动障碍",["阵发性睡眠诱发性运动障碍"]],[98813,"少汗型外胚层发育不良伴免疫缺陷",["无汗性外胚层发育不良伴免疫缺陷"]],[98815,"儿童良性枕叶癫痫型Panayiotopoulos型",["早发性儿童良性枕叶癫痫"]],[98816,"儿童良性枕叶癫痫Gastaut型",["晚发性儿童良性枕叶癫痫"]],[98818,"Landau-Kleffner综合征",["获得性癫痫性失语"]],[98819,"家族性颞叶癫痫"],[98820,"病灶多变的家族性局灶性癫痫",["病灶可变的家族性部分性癫痫"]],[98823,"慢性粒-单核细胞白血病",["CMML"]],[98824,"非典型慢性髓样白血病",["亚急性髓样白血病"]],[98825,"未分类骨髓增生异常/骨髓增殖性疾病",["未分类的混合型骨髓增生异常/骨髓增生综合征"]],[98826,"难治性贫血"],[98827,"未分类骨髓增生异常综合征"],[98829,"急性髓系白血病伴骨髓嗜酸性粒细胞异常及inv(16)(p13q22)或t(16;16)(p13;q22)",["AML伴异常骨髓嗜酸性粒细胞inv(16)(p13q22)或t(16;16)(p13;q22)"]],[98831,"急性髓系白血病伴11q23异常",["AML伴11q23异常"]],[98832,"急性髓细胞白血病微分化型",["微分化型急性髓系白血病"]],[98833,"急性粒细胞白血病未分化型",["M2型急性髓性白血病"]],[98834,"急性粒细胞白血病部分分化型",["M1型急性髓性白血病"]],[98835,"急性未分化白血病",["微分化急性髓系白血病FAB M0型"]],[98836,"急性双系列白血病"],[98837,"急性双表型白血病"],[98838,"原发性纵隔大B细胞淋巴瘤",["B细胞型原发性纵隔透明细胞淋巴瘤"]],[98839,"血管内大B细胞淋巴瘤",["系统性增生性血管内皮瘤病"]],[98841,"间变性大细胞淋巴瘤",["Ki-1阳性间变性大细胞淋巴瘤"]],[98842,"淋巴瘤样丘疹病",["LyP"]],[98843,"经典霍奇金淋巴瘤结节硬化型"],[98844,"经典霍奇金淋巴瘤混合细胞型"],[98845,"经典霍奇金淋巴瘤富于淋巴细胞型"],[98846,"经典霍奇金淋巴瘤淋巴细胞消减型"],[98848,"惰性系统性肥大细胞增多症"],[98849,"系统性肥大细胞增多症伴相关性血液肿瘤",["系统性肥大细胞增多症伴血液克隆性非肥大细胞系疾病"]],[98850,"侵袭性系统性肥大细胞增多症"],[98851,"肥大细胞白血病"],[98852,"脱屑性间质性肺炎"],[98853,"常染色体显性遗传Emery-Dreifuss肌营养不良症",["EDMD2"]],[98855,"常染色体隐性遗传Emery-Dreifuss肌营养不良症",["EDMD3"]],[98856,"腓骨肌萎缩症2B1型",["常染色体隐性遗传Charcot-Marie-Tooth病2B1型"]],[98861,"原发性纤毛运动障碍Kartagener型",["右位心-支气管扩张-鼻窦炎综合征"]],[98863,"X-染色体连锁遗传Emery-Dreifuss肌营养不良"],[98864,"常见型遗传性椭圆形红细胞增多症"],[98865,"纯合型遗传性椭圆形红细胞增多症"],[98866,"弃用：球形红细胞性椭圆形红细胞增多症"],[98867,"遗传性热变性异形红细胞增多症"],[98868,"东南亚卵形红细胞增多症",["口形红细胞椭圆形红细胞增多症"]],[98869,"先天性红细胞生成障碍性贫血I型",["先天性红细胞生成障碍性贫血1型"]],[98870,"先天性红细胞生成障碍性贫血III型",["先天性红细胞生成障碍性贫血3型"]],[98871,"儿童期短暂性幼红细胞减少症",["暂时获得性纯红细胞再生障碍"]],[98872,"成人单纯红细胞再生障碍",["Primary acquired PRCA"]],[98873,"先天性红细胞生成障碍性贫血II型",["酸化血清试验阳性遗传性红细胞多核（HEMPAS）"]],[98878,"血友病A",["VIII因子缺乏症"]],[98879,"血友病B",["IX因子缺乏症"]],[98880,"家族性无纤维蛋白原血症"],[98881,"家族性异常纤维蛋白原血症"],[98885,"糖蛋白VI缺乏所致出血性倾向"],[98886,"整合素α2-β1缺乏所致出血性倾向"],[98888,"X-连锁复杂型痉挛性截瘫",["X连锁复杂性SPG"]],[98889,"双侧脑外侧裂多微小脑回"],[98890,"早发型X-连锁视神经萎缩",["早发性非Leber型视神经萎缩"]],[98892,"脑室周围结节性异位症",["PVNH"]],[98893,"先天性肌营养不良症IB型",["CMD1B","MDC1B"]],[98894,"先天性肌营养不良症ID型",["MDC1D"]],[98895,"贝克肌营养不良症",["贝克肌营养不良"]],[98896,"杜氏肌营养不良症",["重型杜氏肌营养不良"]],[98897,"眼咽远端型肌病",["眼咽型远端肌病"]],[98902,"阿米什线状体肌病"],[98904,"先天性肌病伴过量肌动蛋白",["肌动蛋白肌病"]],[98905,"先天性多轴空肌病伴眼外肌麻痹"],[98907,"中性脂质贮积病伴鱼鳞病",["Dorfman-Chanarin 病"]],[98908,"中性脂质贮积性肌病",["中性脂质贮积病伴肌病不伴鱼鳞病"]],[98909,"结蛋白病",["结蛋白相关肌原纤维肌病"]],[98910,"α-晶格蛋白病",["CRYAB相关肌原纤维肌病"]],[98911,"远端肢带型肌营养不良症1A"],[98912,"迟发性远端肌病症Markesbery-Griggs型",["ZASP相关肌原纤维肌病"]],[98913,"突触后性先天性肌无力综合征"],[98914,"突触前性先天性肌无力综合征"],[98915,"突触性先天性肌无力综合征"],[98916,"急性炎性脱髓鞘多发性神经根性神经病",["吉兰巴雷综合征，急性炎性脱髓鞘多发性神经根型"]],[98917,"急性运动感觉轴突型神经病",["急性运动感觉轴突型吉兰巴雷综合征"]],[98918,"急性运动轴突型神经病",["急性单纯运动型吉兰巴雷综合征"]],[98919,"Miller Fisher综合征",["吉兰巴雷综合征颅骨型"]],[98920,"脊髓性肌萎缩症伴呼吸窘迫1型",["常染色体隐性遗传脊髓性肌肉萎缩伴呼吸衰竭"]],[98922,"Blake囊肿"],[98932,"弃用：Shy-Drager 综合征",["多系统萎缩-排尿功能障碍综合征"]],[98933,"多系统萎缩帕金森型",["MAS帕金森型"]],[98934,"类亨廷顿病2",["HDL2"]],[98938,"缺损性小眼",["小眼-无眼-眼球缺损综合征"]],[98941,"弃用：希佩尔异常"],[98942,"脉络膜和视网膜缺损"],[98943,"晶状体缺损"],[98944,"虹膜缺损"],[98945,"黄斑缺损"],[98946,"眼睑缺损"],[98947,"视盘缺损",["视乳头缺损"]],[98948,"先天性睑球粘连"],[98949,"完全隐眼"],[98950,"部分隐眼"],[98951,"逆颌动瞬目现象"],[98954,"Meesmann角膜营养不良",["青少年遗传性Meesmann上皮营养不良"]],[98955,"Lisch上皮细胞角膜营养不良",["带状及螺旋状微囊性角膜上皮营养不良"]],[98956,"上皮基底膜营养不良",["Cogan微囊性上皮营养不良"]],[98957,"凝胶状滴状角膜变性",["原发性家族性角膜淀粉样变性"]],[98958,"气候性滴状角膜病变",["蜜滴状角膜营养不良"]],[98959,"上皮下黏液性角膜营养不良",["SMCD"]],[98960,"Thiel-Behnke角膜营养不良",["前界膜角膜营养不良II型"]],[98961,"Reis-Bücklers角膜营养不良",["前界膜角膜营养不良I型"]],[98962,"颗粒状角膜营养不良I型",["典型颗粒状角膜营养不良"]],[98963,"颗粒状角膜营养不良II型",["颗粒-晶格状角膜营养不良"]],[98964,"格子状角膜营养不良I型",["典型晶格状角膜营养不良"]],[98967,"施耐德角膜营养不良",["Schnyder 遗传性晶体状角膜基质营养不良"]],[98968,"中央盘状角膜营养不良"],[98969,"斑点状角膜营养不良",["Groenouw II型角膜营养不良"]],[98970,"FLECK角膜营养不良",["François-Neetens斑点状角膜营养不良"]],[98971,"后部多形性角膜营养不良",["后部多形性角膜基质营养不良"]],[98972,"Franþois角膜中央浑浊性角膜营养不良",["François中心性云翳状角膜营养不良"]],[98973,"后部多形性角膜营养不良",["后部多形性营养不良"]],[98974,"Fuchs角膜内皮营养不良",["晚发遗传性内皮营养不良"]],[98975,"先天性遗传性内皮细胞营养不良I型",["常染色体显性遗传性先天性内皮细胞营养不良"]],[98976,"先天性青光眼",["原发性先天性青光眼"]],[98977,"青少年型青光眼"],[98978,"Axenfeld异常"],[98979,"Chandler综合征"],[98980,"Cogan-Reese综合征"],[98981,"特发性虹膜萎缩症"],[98983,"弃用：先天性白内障Volkmann型"],[98984,"粉尘状白内障",["Coppock样白内障"]],[98985,"早发性缝性白内障",["Y形缝隙状混浊性早发性白内障。"]],[98986,"弃用： 核性颗粒状白内障"],[98987,"弃用：白内障Hutterite 型"],[98988,"早发性前极性白内障",["早发性前囊下白内障"]],[98989,"蔚蓝白内障",["蓝点状白内障"]],[98990,"珊瑚状白内障"],[98991,"早发性核性白内障"],[98992,"早发性部分白内障"],[98993,"早发性后极性白内障"],[98994,"早发性全白内障"],[98995,"早发性绕核性白内障"],[99000,"成人起病型中央凹黄斑卵黄样营养不良",["成人型黄斑中心凹营养不良伴脉络膜新生血管"]],[99001,"蝶形色素营养不良",["蝶状色素性黄斑营养不良"]],[99002,"视网膜色素上皮网状营养不良"],[99003,"多灶性图形样眼底黄斑样营养不良",["类Stargardt病的多灶型营养不良"]],[99004,"粉尘状眼底"],[99012,"弃用：常染色体隐形遗传视神经萎缩OPA6型"],[99013,"遗传痉挛性截瘫7型",["SPG7"]],[99014,"X-连锁腓骨肌萎缩症5型",["CMTX5"]],[99015,"遗传痉挛性截瘫2型",["X连锁痉挛性截瘫2型"]],[99022,"弃用：尼曼-匹克病E型"],[99027,"成人起病型常染色体显性遗传脑白质营养不良症",["成人起病常染色体显性遗传脱髓鞘性白质营养不良"]],[99042,"先天性未矫正的大动脉转位伴缩窄",["大血管转位伴缩窄"]],[99043,"右心室双出口合并主动脉瓣下室间隔缺损或双动脉瓣下室间隔缺损合并肺动脉狭窄",["法洛型DORV"]],[99044,"右心室双出口合并主动脉瓣下室间隔缺损"],[99045,"右心室双出口合并肺动脉瓣下室间隔缺损",["DORV 伴肺动脉瓣下 VSD"]],[99046,"右心室双出口合并未累及肺动脉瓣下室间隔缺损",["DORV 伴未累及肺动脉瓣下 VSD"]],[99047,"右心室双出口合并双室间隔缺损"],[99048,"肺动脉瓣发育不全-室间隔完整-持续性动脉导管（未闭）综合征",["非法洛型肺动脉瓣发育不全/动脉导管未闭"]],[99049,"起自动脉导管未闭的肺动脉"],[99050,"右肺动脉或左肺动脉自主动脉起源异常",["肺动脉主动脉起源"]],[99051,"分离性固定性膜性主动脉瓣下狭窄"],[99052,"分离性纤维肌性主动脉下狭窄"],[99053,"主动脉下管状狭窄"],[99054,"肺动脉瓣狭窄"],[99055,"先天性三尖瓣腱索异常",["先天性三尖瓣腱索异常"]],[99056,"降落伞型三尖瓣"],[99057,"先天性二尖瓣狭窄"],[99058,"二尖瓣环发育不全"],[99059,"先天性二尖瓣瓣上环"],[99060,"先天性无保护二尖瓣口"],[99061,"副二尖瓣组织"],[99062,"二尖瓣发育不全"],[99063,"Shone 综合征"],[99064,"二尖瓣骑跨/跨位"],[99066,"弃用：完全性房室管左心脏阻塞综合征",["CAVC-左心阻塞综合征"]],[99067,"完全性房室间隔缺损伴心室发育不良",["完全性房室间隔缺损伴心室失衡"]],[99068,"完全性房室间隔缺损-法洛四联症",["完全性房室通道缺损-法洛四联症"]],[99069,"单心室伴发单房室瓣"],[99070,"主动脉右心室隧道"],[99071,"主动脉左心室隧道"],[99072,"先天性动脉导管未闭动脉瘤"],[99075,"围绕型双主动脉弓"],[99076,"永存第5对主动脉弓"],[99077,"Kommerell憩室"],[99078,"Neuhauser异常"],[99079,"颈型主动脉弓"],[99081,"右位主动脉弓"],[99082,"食管受压性咽下困难"],[99083,"肺动脉发育不全",["单侧肺动脉发育不良"]],[99084,"周围肺动脉狭窄",["分支性肺动脉狭窄"]],[99085,"弃用：心肌壁内冠脉走行"],[99086,"弃用：肺主动脉冠状动脉贯通"],[99087,"冠状动脉开口狭窄或闭锁",["先天性冠状动脉口狭窄或闭锁"]],[99088,"弃用：壁内冠状动脉贯通"],[99089,"冠状窦口数目异常"],[99090,"冠状动脉口错位"],[99092,"室间隔动脉瘤"],[99094,"Laubry-Pezzi综合征",["VSD合并主动脉瓣关闭不全"]],[99095,"先天性Gerbode缺损",["左心室-右心房交通"]],[99096,"弃用：多发室间隔缺损"],[99097,"弃用：单发室间隔缺损"],[99098,"右侧三房心",["右心房三间隔"]],[99099,"左侧三房心",["左心房三间隔"]],[99100,"心耳并列",["心耳并列"]],[99101,"右心房附件扩张",["右心耳扩张"]],[99102,"左心房附件扩张",["左心耳扩张"]],[99103,"房间隔缺损继发孔型",["继发孔型ASD"]],[99104,"房间隔缺损冠状静脉窦型",["冠状窦型房间隔缺损"]],[99105,"房间隔缺损静脉窦型",["静脉窦型房间隔缺损"]],[99106,"房间隔缺损原发孔型",["原始型房间隔缺损"]],[99107,"房间隔动脉瘤"],[99108,"欧洲非罕见：卵圆孔未闭"],[99109,"永存左上腔静脉通过冠状静脉窦至左心房连接",["永久性冠状静脉窦至左心房的左上腔静脉连接"]],[99110,"右上腔静脉连接左心房",["右上腔静脉连通左心房"]],[99111,"永存左上腔静脉连接冠状窦顶",["永存左SVC连接左心房"]],[99112,"无名静脉缺失",["头臂静脉缺如"]],[99113,"无名静脉主动脉下走行",["头臂静脉主动脉下走行"]],[99114,"上腔静脉发育不良",["SVC不发育"]],[99117,"冠状静脉窦狭窄"],[99118,"冠状静脉窦闭锁"],[99119,"右下腔静脉连接左心房",["右侧下腔静脉连接左心房"]],[99120,"永存下腔静脉瓣"],[99121,"下腔静脉与奇静脉延续",["下腔静脉阻断伴奇静脉延续"]],[99122,"下腔静脉先天性狭窄",["先天性IVC狭窄"]],[99123,"下腔静脉中断不伴奇静脉延续",["IVC中断"]],[99124,"先天性部分肺静脉回流异常"],[99125,"先天性完全肺静脉回流异常"],[99126,"弃用：肺静脉闭锁"],[99129,"先天性心包完全发育不全"],[99130,"先天性心包部分发育不全"],[99131,"胸膜心包囊肿"],[99134,"弃用：中度口形红细胞增多症综合征"],[99135,"6-磷酸葡糖酸脱氢酶缺乏"],[99138,"红细胞腺苷脱氨酶生成过多所致溶血性贫血"],[99139,"不稳定性血红蛋白病"],[99141,"淋巴水肿-后鼻孔闭锁综合征"],[99143,"弃用：下颌面骨发育不全-淋巴水肿综合征"],[99146,"弃用：肾功能不全相关性血小板功能疾病"],[99147,"获得性假血友病综合征",["获得性血管性血友病"]],[99151,"欧洲非罕见：海马Tau蛋白病伴大脑衰老"],[99169,"眼睑赘皮"],[99170,"睑板扭结综合征"],[99171,"孤立型先天性眼睑外翻"],[99172,"睑裂过宽"],[99176,"先天性眼睑回缩"],[99177,"孤立型双睫症"],[99179,"Kandori斑点样视网膜"],[99226,"X单体"],[99228,"镶嵌型X单体"],[99324,"13号染色体父源单亲二体",["父源13号染色体UPD"]],[99329,"48，XYYY综合征"],[99330,"49，XYYYY 综合征"],[99361,"家族性甲状腺髓样癌",["家族性MTC"]],[99408,"垂体腺瘤"],[99413,"X染色体结构异常所致特纳综合征"],[99429,"雄激素完全不敏感综合征",["完全性雄激素抵抗综合征"]],[99642,"脊柱骨骺干骺端发育不良Hangdigodu型"],[99645,"花斑型骨干发育不全"],[99646,"干骺端软骨瘤病伴D-2-羟基戊二酸尿症"],[99647,"手型脊椎内生性软骨瘤病",["泛发性软骨瘤病合并颈椎病"]],[99648,"弃用：非进展性先天性心脏传导阻滞"],[99649,"弃用：全身性癫痫和行为诱导癫痫发作"],[99650,"弃用：多种类型癫痫相关性非孔环性通道病"],[99651,"弃用：其他肾小管疾病相关性非孔环性通道病"],[99654,"弃用：纤维钙化性胰腺病",["纤维钙化性胰腺糖尿病"]],[99657,"原发性肌张力障碍DYT2型",["DYT2"]],[99662,"弃用：后颅窝肿瘤"],[99663,"弃用：前庭性斜颈"],[99664,"弃用：滑车神经麻痹"],[99665,"欧洲非罕见：腹疝"],[99666,"弃用：寰枢关节半脱位"],[99672,"Fried牙齿和指甲综合症"],[99688,"皮肤毛发综合征"],[99694,"肺泡粘连-睑缘粘连-外胚层发育不全综合征"],[99701,"颞叶内侧癫痫伴海马硬化",["MTLE-HS"]],[99706,"弃用：早衰相关性关节病"],[99710,"点状雀斑样色素沉着性肢端角化症"],[99715,"Mass综合征",["二尖瓣-主动脉-骨骼-皮肤综合征"]],[99718,"Leber+病综合征",["LHON+病"]],[99722,"弃用：散发性食管失弛缓症"],[99723,"弃用：家族性食管失弛缓症"],[99725,"垂体性巨人症",["婴幼儿和少年型肢端肥大症"]],[99731,"孤立型亚硫酸盐氧化酶缺乏",["硫代半胱氨酸尿症"]],[99732,"钼辅因子缺乏所致亚硫酸盐氧化酶缺乏",["钼辅因子缺陷"]],[99734,"肌强直波动状态",["运动型迟发性肌强直"]],[99735,"肌强直持续状态"],[99736,"乙酰唑胺反应性肌强直",["乙酰唑胺反应性先天性肌强直"]],[99739,"罕见家族性疾病伴发肥厚型心肌病",["罕见家族性疾病合并肥厚梗阻性心肌病"]],[99741,"King-Denborough综合征",["Koussef-Nichols 综合征"]],[99742,"阿米什致命性小头畸形"],[99745,"伤寒",["伤寒沙门氏菌病"]],[99748,"庞蒂亚克热"],[99749,"Kostmann综合征",["重度先天性中性粒细胞减少症3型"]],[99750,"非典型进行性核上性麻痹综合征",["非典型PSP综合征"]],[99756,"肺泡状横纹肌肉瘤"],[99757,"胚胎横纹肌肉瘤"],[99763,"弃用：家族性高肾素醛固酮减少症1型",["皮质酮甲氧基氧化酶缺乏症I型"]],[99764,"弃用：家族性高肾素醛固酮减少症2型",["FHHA2"]],[99771,"悬雍垂裂",["悬雍垂二裂"]],[99772,"腭帆裂",["腭裂"]],[99776,"9号染色体嵌合型三体",["嵌合性9号染色体三体"]],[99777,"贲门失弛缓-无泪综合征"],[99781,"弃用：家族性关节软骨钙​​化病1型",["软骨钙​​化病1型"]],[99782,"弃用：家族性关节软骨钙​​化病2型",["软骨钙​​化病2型"]],[99789,"牙本质发育异常1型",["根部牙本质发育不良"]],[99791,"牙本质发育异常2型",["DTDP2"]],[99792,"牙本质发育不良-骨硬化综合征"],[99796,"皮层下带状灰质异位症",["皮质下板层异位"]],[99797,"先天性无齿症"],[99798,"少牙畸形",["选择性牙发育不全"]],[99802,"半侧巨脑畸形",["单侧巨脑畸形"]],[99803,"Haddad综合征",["先天性中央肺泡低通气-先天性巨结肠综合征"]],[99806,"眼-耳-牙综合征",["OOD"]],[99807,"类PEHO综合征"],[99810,"家族性脑穿通畸形"],[99811,"神经性假性肠梗阻"],[99812,"LIG4综合征",["DNA连接酶IV缺陷"]],[99817,"Turcot综合征非息肉病型"],[99818,"Turcot综合征息肉病型"],[99819,"家族性妊娠性甲状腺功能亢进症"],[99824,"拉沙热",["拉沙出血热"]],[99825,"尼帕病毒病",["尼帕脑炎"]],[99826,"马尔堡出血热",["马尔堡病毒病"]],[99827,"克里米亚-刚果出血热",["克里米亚出血热"]],[99828,"登革热",["登革病毒感染"]],[99829,"黄热病",["Bronze John","YF","Yellow Jack"]],[99831,"弃用：T细胞内在缺陷所致普通变异型免疫缺陷病",["先天性T细胞缺陷所致CVID"]],[99832,"甲状腺激素释放激素抵抗综合征",["TRH受体缺陷所致中枢性甲状腺功能减退"]],[99842,"白细胞粘附缺陷1型",["LAD-I"]],[99843,"白细胞粘附缺陷2型",["Rambam-Hasharon综合征"]],[99844,"白细胞粘附缺陷3型",["白细胞粘附缺陷-1型变异体"]],[99845,"遗传性复发肌红蛋白尿"],[99846,"常染色体显性遗传肌红蛋白尿"],[99849,"肌肉β-烯醇酶缺乏所致糖原贮积症",["肌肉β-烯醇酶缺乏所致糖原贮积症"]],[99852,"RAVINE综合征",["无法抑制的 Reunion岛-食欲减退-呕吐 神经性体征综合征"]],[99853,"卵巢-脑白质营养不良症"],[99854,"印第安人脑白质病"],[99856,"原发性脊髓空洞症",["先天性脊髓空洞症"]],[99857,"继发性脊髓空洞症"],[99858,"特发性脊髓空洞症"],[99859,"弃用：外伤后脊髓空洞症"],[99860,"前体B细胞急性淋巴细胞白血病",["前体B细胞急性淋巴细胞白血病/淋巴瘤"]],[99861,"前体T细胞急性淋巴细胞白血病",["前体T细胞急性淋巴细胞白血病/淋巴瘤"]],[99864,"弃用：典型精原细胞瘤"],[99865,"精母细胞性精原细胞瘤"],[99866,"弃用：转移性精母细胞性精原细胞瘤"],[99867,"胸腺瘤",["原发性胸腺上皮性肿瘤"]],[99868,"胸腺癌",["恶性胸腺瘤"]],[99869,"胸腺神经内分泌癌"],[99870,"弃用：莱特勒-西韦病",["急性播散性朗格汉斯细胞组织细胞增生症"]],[99871,"弃用：嗜酸细胞肉芽肿",["慢性局限性朗格汉斯细胞组织细胞增生症"]],[99872,"弃用：Hashimoto-Pritzker综合征",["先天性朗格汉斯细胞组织细胞增生症"]],[99873,"弃用：Hand-Schüller-Christian病",["慢性多灶性朗格汉斯细胞组织细胞增生症"]],[99874,"弃用：成人肺朗格汉斯细胞组织细胞增多症",["肺组织细胞增生症X型"]],[99875,"弃用：Ehlers-Danlos综合征7A型",["EDS VIIA"]],[99876,"弃用：Ehlers-Danlos综合征7B型",["EDS VIIB"]],[99877,"家族性甲状旁腺腺瘤"],[99878,"原发性甲状旁腺增生症",["遗传性甲状旁腺增生"]],[99879,"家族性孤立型甲状旁腺功能亢进",["FIHPT"]],[99880,"甲状旁腺功能亢进-颌面肿瘤综合征",["HPT-JT"]],[99885,"永久新生儿糖尿病",["婴儿单基因糖尿病"]],[99886,"新生儿短暂性糖尿病",["TNDM"]],[99887,"唐氏综合征伴急性巨核细胞白血病",["DS-AMKL"]],[99888,"欧洲非罕见：肾上腺皮质腺瘤"],[99889,"异位促肾上腺皮质激素分泌所致库欣综合征",["促肾上腺皮质激素分泌综合征"]],[99892,"促肾上腺皮质激素依赖性库欣综合征",["ACTH依赖性CS"]],[99893,"促肾上腺皮质激素非依赖性库欣综合征",["ACTH非依赖性库欣综合征"]],[99898,"IFN-γR2完全缺乏所致孟德尔遗传易感性分枝杆菌病",["干扰素γ受体1完全缺乏所致MSMD"]],[99900,"长链酰基辅酶A脱氢酶缺乏",["LCAD"]],[99901,"家族性乙酰辅酶脱氢酶9型缺乏",["ACAD9 缺陷"]],[99903,"螺菌性鼠咬热",["鼠咬热病"]],[99905,"念珠状链杆菌性鼠咬热"],[99906,"农民肺疾病"],[99907,"居家性过敏性肺泡炎"],[99908,"养鸽者肺病",["养鸟者肺"]],[99909,"职业性过敏性肺泡炎"],[99912,"恶性卵巢无性生殖细胞肿瘤",["卵巢无性细胞瘤性生殖细胞癌"]],[99913,"性腺外非无性细胞瘤性生殖细胞肿瘤"],[99914,"两性胚细胞瘤"],[99915,"卵巢恶性颗粒细胞瘤",["颗粒细胞恶性肿瘤"]],[99916,"卵巢恶性支持-间质细胞瘤",["卵巢恶性支持间质细胞肿瘤"]],[99917,"卵巢激素合成性卵泡膜细胞恶性肿瘤未指定类型",["卵泡膜(产生类固醇)细胞癌未指定型"]],[99918,"链球菌中毒性休克综合征",["链球菌性TSS"]],[99919,"葡萄球菌中毒性休克综合征",["葡萄球菌性TSS"]],[99920,"急性移植物抗宿主病"],[99921,"慢性移植物抗宿主病"],[99922,"眼部瘢痕性类天疱疮"],[99925,"侵袭性葡萄胎"],[99926,"妊娠性绒毛膜癌"],[99927,"葡萄胎",["葡萄胎妊娠"]],[99928,"胎盘部位滋养细胞肿瘤",["PSST"]],[99930,"继发性肺含铁血黄素沉积"],[99931,"特发性肺含铁血黄素沉积"],[99932,"Heiner综合征",["牛乳过敏症"]],[99933,"胸膜肺母细胞瘤1型"],[99934,"胸膜肺母细胞瘤2型"],[99935,"胸膜肺母细胞瘤3型"],[99936,"常染色体显性遗传腓骨肌萎缩症2B型",["CMT2B"]],[99937,"常染色体显性遗传腓骨肌萎缩症2C型",["CMT2C"]],[99938,"常染色体显性遗传腓骨肌萎缩症2D型",["CMT2D"]],[99939,"常染色体显性遗传腓骨肌萎缩症2E型",["CMT2E"]],[99940,"常染色体显性遗传腓骨肌萎缩症2F型",["CMT2F"]],[99941,"常染色体显性遗传腓骨肌萎缩症2G型",["CMT2G"]],[99942,"常染色体显性遗传腓骨肌萎缩症2I型",["CMT2I"]],[99943,"常染色体显性遗传腓骨肌萎缩症2J型",["CMT2J"]],[99944,"常染色体显性遗传腓骨肌萎缩症2K型",["CMT2K"]],[99945,"常染色体显性遗传腓骨肌萎缩症2L型",["CMT2L"]],[99946,"常染色体显性遗传腓骨肌萎缩症2A1型",["CMT2A1"]],[99947,"常染色体显性遗传腓骨肌萎缩症2A2型",["CMT2A2"]],[99948,"腓骨肌萎缩症4A型",["CMT4A"]],[99949,"腓骨肌萎缩症4C型",["CMT4C"]],[99950,"腓骨肌萎缩症4D型",["Lom型HMSN"]],[99951,"腓骨肌萎缩症4E型",["常染色体隐性遗传性先天性髓鞘减少性神经病"]],[99952,"腓骨肌萎缩症4F型",["CMT4F"]],[99953,"腓骨肌萎缩症4G型",["Russe型遗传性运动感觉神经病"]],[99954,"腓骨肌萎缩症4H型",["CMT4H"]],[99955,"腓骨肌萎缩症4B1型",["CMT4B1"]],[99956,"腓骨肌萎缩症4B2型",["CMT4B2"]],[99960,"良性复发性肝内胆汁淤积1型",["BRIC1型"]],[99961,"良性复发性肝内胆汁淤积2型",["BRIC2型"]],[99965,"欧·沙利文-麦克劳德综合征"],[99966,"非典型畸胎样/横纹肌样瘤",["ATRT"]],[99967,"黏液样/圆形细胞脂肪肉瘤",["MRCLS"]],[99969,"多形性脂肪肉瘤",["PLS"]],[99970,"去分化脂肪肉瘤",["DDLS"]],[99971,"高分化脂肪肉瘤",["非典型脂肪性肿瘤"]],[99972,"弃用：免疫球蛋白A1缺乏",["IgA1缺陷"]],[99973,"弃用：免疫球蛋白A2缺乏",["IgA2缺陷"]],[99974,"弃用：TACI相关IgA选择性缺乏"],[99976,"食道腺癌",["食管腺癌"]],[99977,"食道鳞状细胞癌",["食管鳞状细胞癌"]],[99978,"克拉斯金肿瘤",["肝门部胆管癌"]],[99981,"早产儿呼吸暂停"],[99983,"皮肤蝇蛆病"],[99985,"弃用：家族性限制性心肌病1型"],[99986,"弃用：家族性限制性心肌病2型"],[99987,"弃用：眼炎-食道-生殖器综合征"],[99989,"中度DEND综合征",["中间型发育迟缓-癫痫-新生儿糖尿病综合征"]],[99990,"Brill-Zinsser病",["复发性斑疹伤寒"]],[99991,"流行性斑疹伤寒"],[99994,"复杂区域性疼痛综合征2型",["灼性神经痛"]],[99995,"复杂区域性疼痛综合征1型",["反射性交感神经营养障碍"]],[100000,"网状神经鞘瘤"],[100001,"硬化性神经鞘瘤"],[100002,"神经外神经鞘瘤",["软组织神经膜瘤"]],[100003,"神经内神经鞘瘤"],[100006,"Dutch型ABeta淀粉样变性病",["Dutch型遗传性脑出血合并淀粉样变性"]],[100008,"ABeta淀粉样变性病",["冰岛型遗传性脑出血合并淀粉样变性"]],[100011,"无脑回畸形伴小脑发育不全A型"],[100012,"无脑回畸形伴小脑发育不全B型"],[100013,"无脑回畸形伴小脑发育不全C型"],[100014,"无脑回畸形伴小脑发育不全D型"],[100015,"无脑回畸形伴小脑发育不全E型"],[100016,"无脑回畸形伴小脑发育不全F型"],[100019,"难治性贫血伴母细胞过多1型",["RAEB-1"]],[100020,"难治性贫血伴母细胞过多2型",["RAEB-2"]],[100021,"骨原发性浆细胞瘤"],[100022,"髓外软组织浆细胞瘤"],[100024,"μ重链病",["mu-HCD"]],[100025,"α重链病",["免疫增殖性小肠疾病"]],[100026,"γ重莲病",["Franklin病"]],[100031,"发育不良性牙釉质发育不全",["牙釉质发育不全1型"]],[100032,"低钙性牙釉质发育不全",["牙釉质发育不全3型"]],[100033,"成熟不全性牙釉质发育不全",["牙釉质发育不全2型"]],[100034,"成熟不全-发育不良性牙釉质发育不全伴长冠牙",["牙釉质发育不全4型"]],[100035,"肝脏孤立性坏死结节",["肝孤立坏死性结节"]],[100039,"家族性假高血钾症1型"],[100040,"弃用：家族性假高血钾症2型"],[100041,"弃用：Cardiff型家族性假高血钾症"],[100043,"常染色体显性遗传中间型夏科-马里-图斯病A型",["CMTDIA"]],[100044,"常染色体显性遗传中间型夏科-马里-图斯病B型",["CMTDIB"]],[100045,"常染色体显性遗传中间型夏科-马里-图斯病C型",["CMTDIC"]],[100046,"常染色体显性遗传中间型夏科-马里-图斯病D型",["CMTDID"]],[100047,"食管重复囊肿"],[100048,"食管管状重复畸形"],[100049,"肺表面活性物质蛋白异常所致儿童特发的原发性间质性肺疾病",["肺表面活性物质蛋白异常所致儿童特发原发性ILD"]],[100050,"遗传性血管性水肿1型",["遗传性血管神经性水肿1型"]],[100051,"遗传性血管性水肿2型",["遗传性血管神经性水肿2型"]],[100054,"C1Inh正常的F12相关遗传性血管性水肿",["遗传性雌激素相关性血管神经性水肿"]],[100055,"获得性血管性水肿2型",["获得性血管神经性水肿2型"]],[100056,"获得性血管性水肿1型",["获得性血管神经性水肿1型"]],[100057,"肾素血管紧张素醛固酮系统抑制剂诱导的血管性水肿",["肾素-血管紧张素-醛固酮系统阻滞剂诱导的血管神经性水肿"]],[100067,"华-弗综合征"],[100069,"词义性痴呆",["语义原发性进行性失语"]],[100070,"进行性非流利性失语",["非语法型原发性进行性失语"]],[100071,"嵌合型3号染色体三体",["嵌合性三号染色体三体"]],[100072,"弃用：真血管性胸廓出口综合征"],[100073,"神经源性胸廓出口综合征",["神经源性胸廓出口压迫综合征"]],[100075,"胃神经内分泌肿瘤",["胃神经内分泌瘤"]],[100076,"十二指肠神经内分泌肿瘤"],[100077,"空肠神经内分泌肿瘤",["空肠神经内分泌瘤"]],[100078,"回肠神经内分泌肿瘤",["回肠神经内分泌瘤"]],[100079,"阑尾神经内分泌肿瘤",["阑尾神经内分泌瘤"]],[100080,"结肠神经内分泌肿瘤",["结肠神经内分泌瘤"]],[100081,"直肠神经内分泌肿瘤",["直肠神经内分泌瘤"]],[100082,"肛管神经内分泌肿瘤",["肛管NET"]],[100083,"喉神经内分泌肿瘤"],[100084,"中耳神经内分泌肿瘤"],[100085,"原发性肝神经内分泌癌"],[100086,"胆囊神经内分泌肿瘤"],[100087,"甲状腺肿瘤"],[100088,"甲状腺癌"],[100090,"罕见性甲状旁腺肿瘤"],[100091,"肾上腺/神经节旁肿瘤"],[100092,"胃肠胰神经内分泌肿瘤",["GEP-NEN"]],[100093,"类癌综合征",["恶性类癌综合征"]],[100094,"多发性多腺肿瘤"],[100100,"胸腺肿瘤"],[100101,"其他部位神经内分泌肿瘤"],[100642,"欧洲非罕见：淋病"],[100924,"氨基乙酰丙酸脱水酶缺乏性卟啉症",["δ-氨基乙酰丙酸脱水酶缺乏性卟啉症"]],[100932,"弃用：核动眼神经麻痹"],[100973,"X连锁飞梭脆性部位相关型智力障碍",["FRAXE片段相关智力障碍"]],[100974,"FRAXF综合征"],[100976,"泳衣鱼鳞病",["BSI"]],[100978,"分叶状颅骨-窒息性胸廓发育不良综合征",["Benallegue-Lacete 综合征"]],[100979,"常染色体显性遗传遗传复杂痉挛性截瘫",["常染色体显性遗传复杂型SPG"]],[100980,"常染色体显性遗传纯痉挛性截瘫",["常染色体显性遗传非复杂型痉挛性截瘫"]],[100981,"常染色体隐性遗传复杂痉挛性截瘫",["常染色体隐性遗传复杂型SPG"]],[100982,"常染色体隐性遗传纯痉挛性截瘫",["常染色体隐性遗传单纯型SPG"]],[100984,"常染色体显性遗传痉挛性截瘫3型",["Strümpell病"]],[100985,"常染色体显性遗传痉挛性截瘫4型",["SPG4"]],[100986,"常染色体隐性遗传痉挛性截瘫5A型",["SPG5A"]],[100988,"常染色体显性遗传痉挛性截瘫6型",["SPG6"]],[100989,"常染色体显性遗传痉挛性截瘫8型",["SPG8"]],[100990,"弃用：常染色体显性遗传痉挛性截瘫9型",["SPG9"]],[100991,"常染色体显性遗传痉挛性截瘫10型",["SPG10"]],[100993,"常染色体显性遗传痉挛性截瘫12型",["SPG12"]],[100994,"常染色体显性遗传痉挛性截瘫13型",["SPG13"]],[100995,"常染色体隐性遗传痉挛性截瘫14型",["SPG14"]],[100996,"常染色体隐性遗传痉挛性截瘫15型",["痉挛性截瘫-视网膜退行性综合征"]],[100997,"X连锁遗传痉挛性截瘫16型",["SPG16"]],[100998,"常染色体显性遗传痉挛性截瘫17型",["痉挛性截瘫-远端肌肉萎缩"]],[100999,"常染色体显性遗传痉挛性截瘫19型",["SPG19"]],[101000,"常染色体隐性遗传痉挛性截瘫20型",["儿童起病痉挛性截瘫-远端肌肉萎缩综合征"]],[101001,"常染色体隐性遗传痉挛性截瘫21型",["Mast综合征"]],[101003,"常染色体隐性遗传痉挛性截瘫23型",["痉挛性截瘫-白癜风-须发早白-特征面容综合征"]],[101004,"常染色体隐性遗传痉挛性截瘫24型",["SPG24"]],[101005,"常染色体隐性遗传痉挛性截瘫25型",["常染色体隐性遗传性痉挛性截瘫-椎间盘突出综合征"]],[101006,"常染色体隐性遗传痉挛性截瘫26型",["神经节苷脂酶缺乏"]],[101007,"常染色体隐性遗传痉挛性截瘫27型",["SPG27"]],[101008,"常染色体隐性遗传痉挛性截瘫28型",["SPG28"]],[101009,"常染色体显性遗传痉挛性截瘫29型",["SPG29"]],[101010,"常染色体遗传痉挛性截瘫30型",["SPG30"]],[101011,"常染色体显性遗传痉挛性截瘫31型",["SPG31"]],[101016,"Romano-Ward综合征",["Romano-Ward长QT综合征"]],[101022,"地中海巨血小板减少症"],[101023,"硬腭裂"],[101028,"转醛醇酶缺乏症",["转醛醇酶缺缺陷病"]],[101029,"皮质下结节性异位症"],[101030,"室管膜下结节性异位症"],[101033,"弃用：彼得斯异常白内障综合征"],[101036,"弃用：Zlotogura-Martinez 综合征"],[101039,"女性局限性癫痫伴智力障碍",["Juberg-Hellman综合征"]],[101041,"家族性低纤维蛋白原血症"],[101042,"弃用：陶-宾综合征"],[101043,"先天性主动脉瓣发育不良"],[101046,"常染色体显性遗传癫痫伴听觉症状",["常染色体显性遗传颞叶外侧癫痫"]],[101049,"家族性低尿钙性高钙血症2型",["FHH2型"]],[101050,"家族性低尿钙性高钙血症3型",["FHH3型"]],[101052,"弃用：小头畸形B型"],[101063,"完全性内脏逆位",["完全性内脏逆位"]],[101068,"先天性角膜基质营养不良",["先天性遗传性角膜基质营养不良"]],[101070,"双侧额顶叶多小脑回畸形"],[101071,"单侧半球多小脑回畸形"],[101075,"X连锁遗传夏科-马里-图斯病1型",["CMT1"]],[101076,"X连锁遗传夏科-马里-图斯病2型",["CMT2"]],[101077,"X连锁遗传夏科-马里-图斯病3型",["CMT3"]],[101078,"X连锁遗传夏科-马里-图斯病4型",["Cowchock综合征"]],[101081,"夏科-马里-图斯病1A型",["17p12微重复"]],[101082,"夏科-马里-图斯病1B型",["CMT1B"]],[101083,"夏科-马里-图斯病1C型",["CMT1C"]],[101084,"夏科-马里-图斯病1D型",["CMT1D"]],[101085,"夏科-马里-图斯病1F型",["CMT1F"]],[101088,"X连锁遗传高IgM综合征",["CD41配体缺陷所致高lgM综合征"]],[101089,"高IgM综合征2型",["活性胞苷脱氨酶缺陷"]],[101090,"高IgM综合征3型",["CD40缺陷所致高IgM综合征"]],[101091,"高IgM综合征4型",["HIGM4"]],[101092,"高IgM综合征5型",["尿嘧啶DNA糖基酶所致高IgM综合征"]],[101096,"再生障碍性贫血"],[101097,"常染色体隐性遗传夏科-马里-图斯病伴声音嘶哑",["常染色体隐性遗传轴索性CMT2K型"]],[101101,"夏科-马里-图斯病2B2型",["常染色体隐性遗传轴索性CMT2B2型"]],[101102,"夏科-马里-图斯病2H型",["轴索性CMT病伴锥体系受累"]],[101104,"Marin-Amat 综合征"],[101106,"弃用：非分泌性化学感受器瘤"],[101107,"脊髓小脑共济失调22型",["SCA22"]],[101108,"脊髓小脑共济失调23型",["SCA23"]],[101109,"脊髓小脑共济失调28型",["SCA28"]],[101110,"脊髓小脑共济失调20型",["SCA20"]],[101111,"脊髓小脑共济失调25型",["SCA25"]],[101112,"脊髓小脑共济失调26型",["SCA26"]],[101150,"常染色体隐性遗传多巴反应性肌张力障碍",["酪氨酸羟化酶缺陷所致多巴反应性肌张力障碍"]],[101151,"肌张力障碍14型",["肌张力障碍14"]],[101206,"肺动脉瓣发育不全-法洛四联症-动脉导管缺如综合征",["肺动脉瓣缺失-法洛四联症-动脉导管缺失综合征"]],[101330,"迟发性皮肤卟啉症",["PCT"]],[101334,"非洲蜱传斑疹伤寒"],[101335,"弃用：印度蜱传斑疹伤寒"],[101336,"弃用：肯尼亚蜱传斑疹伤寒",["肯尼亚蜱虫咬伤热"]],[101337,"弃用：马赛热"],[101338,"弃用：地中海斑疹热"],[101351,"家族性散发性先天性无脾症"],[101356,"弃用：无脑回-脱髓鞘性轴索神经病综合征"],[101433,"罕见泌尿生殖系统疾病"],[101435,"罕见遗传性眼病",["罕见遗传性眼科疾病"]],[101685,"罕见非综合征性智力障碍",["罕见NSID"]],[101932,"二尖瓣下瓣膜异常"],[101934,"遗传性心律失常"],[101936,"罕见胃食管疾病"],[101937,"罕见胰腺疾病"],[101938,"罕见血管性肝病"],[101939,"罕见实质性肝病"],[101940,"罕见代谢性肝病"],[101941,"罕见胆道疾病"],[101943,"罕见肝胆道肿瘤"],[101944,"罕见肺部疾病"],[101945,"罕见支气管肺肿瘤"],[101949,"弃用：罕见后天性眼病"],[101950,"罕见眼肿瘤"],[101952,"罕见糖尿病"],[101953,"罕见血脂异常"],[101954,"罕见肾上腺疾病"],[101955,"罕见甲状腺疾病"],[101956,"多发性内分泌腺病"],[101957,"垂体缺陷"],[101958,"原发性肾上腺功能不全"],[101959,"慢性原发性肾上腺功能不全",["慢性肾上腺功能不全"]],[101960,"遗传性慢性原发性肾上腺功能不全"],[101963,"获得性慢性原发性肾上腺功能不全"],[101972,"T细胞和B细胞联合免疫缺陷"],[101977,"主要影响抗体产生的免疫缺陷"],[101978,"弃用：所有血清同型免疫球蛋白严重减少和B细胞显著减少或缺失的疾病"],[101980,"弃用：同型或轻链缺陷伴正常B细胞数量的疾病"],[101982,"弃用：血清IgA和IgG严重降低、IgM正常或升高和B细胞数量正常的疾病"],[101985,"定量和/或定性先天性吞噬细胞缺陷"],[101987,"体质性中性粒细胞减少症"],[101988,"先天性免疫缺陷所致原发性免疫缺陷"],[101992,"补体级联蛋白异常所致免疫缺陷"],[101995,"周期性发热综合征"],[101997,"原发性免疫缺陷"],[101998,"罕见癫痫"],[102000,"延髓病"],[102002,"罕见共济失调"],[102003,"罕见运动障碍"],[102005,"脑炎症性疾病"],[102006,"神经血管畸形"],[102009,"经典无脑回畸形",["无脑回畸形1型"]],[102010,"其他以无脑回畸形为主要特征的综合征"],[102011,"无脑回畸形3型"],[102012,"单纯性遗传性痉挛性截瘫",["单纯型遗传性痉挛性截瘫"]],[102013,"复杂性遗传性痉挛性截瘫",["复杂型遗传性痉挛性截瘫"]],[102014,"常染色体显性遗传肢体带状肌营养不良"],[102015,"常染色体隐性遗传肢体带状肌营养不良"],[102020,"常染色体单体",["常染色体缺失"]],[102021,"立克次体病",["立克次体病"]],[102022,"斑疹热立克次体病",["斑疹热立克次体病"]],[102023,"斑疹伤寒立克次体病",["斑疹伤寒立克次体病"]],[102024,"人类疱疹病毒8型相关疾病",["HHV-8相关疾病"]],[102025,"弃用：核细胞包膜病"],[102069,"弃用：肝淀粉样变性伴肝内胆汁淤积",["胆汁淤积性肝淀粉样变性"]],[102237,"不明原因周期性发热综合征"],[102283,"多发性先天异常/畸形综合征-智力障碍",["多发性先天性畸形/智力障碍"]],[102284,"多发性先天异常/畸形综合征-可变智力障碍综合征",["多发性先天性畸形/程度不一的智力障碍"]],[102285,"无智力障碍的多发性先天性异常/畸形综合征",["多发性先天性畸形不伴智力障碍"]],[102369,"罕见综合征性智力障碍"],[102373,"弃用：原发性肾小球疾病"],[102379,"烷化剂相关急性髓系白血病及骨髓增生异常综合征",["与烷化剂相关的急性髓系白血病和骨髓增生异常综合征"]],[102381,"拓扑异构酶2型抑制剂相关急性髓系白血病及骨髓增生异常综合征",["与拓扑异构酶2型抑制物相关的急性髓系白血病和骨髓增生异常综合征"]],[102724,"急性髓系白血病伴t（8；21）（q22；q22）易位",["急性髓性白血病伴t(8;21)(q22;q22)"]],[103907,"糖化酶缺乏所致慢性腹泻",["麦芽糖酶-葡糖糖化酶缺陷"]],[103908,"先天性失钠性腹泻",["非综合征性先天性失钠性腹泻"]],[103909,"海藻糖酶缺乏症",["孤立性海藻糖不耐受"]],[103910,"先天性肠细胞硫酸乙酰肝素缺乏症"],[103912,"弃用：上皮剥脱性结肠炎-耳聋综合征"],[103915,"弃用：免疫增生性小肠疾病",["地中海淋巴瘤"]],[103916,"弃用：自身免疫性肠病2型"],[103917,"弃用：自身免疫性肠病3型"],[103918,"热带性胰腺炎",["热带钙化性慢性胰腺炎"]],[103919,"自身免疫性胰腺炎",["AIP"]],[103920,"不明原因结肠炎"],[104003,"先天性肠转运缺陷"],[104004,"维生素吸收异常所致肠病"],[104005,"脂肪吸收障碍所致肠病"],[104006,"酶缺陷所致先天性肠病"],[104007,"累及肠粘膜发育的先天性肠病"],[104008,"短肠综合征"],[104009,"累及肠运动的罕见疾病"],[104010,"肠息肉综合征"],[104011,"罕见肠道肿瘤",["罕见肠道肿瘤"]],[104012,"罕见炎症性肠病"],[104013,"肠受累代谢性疾病"],[104075,"小肠腺癌",["小肠腺瘤"]],[104076,"小肠平滑肌肉瘤"],[104077,"肌病性假性肠梗阻"],[104078,"未分类假性肠梗阻"],[108959,"非综合征性食管畸形"],[108961,"综合征性食管畸形"],[108963,"非综合征性胃十二指肠畸形"],[108965,"综合征性胃十二指肠畸形"],[108967,"非综合征性肠畸形"],[108969,"综合征性肠畸形"],[108971,"非综合征性内脏畸形"],[108973,"综合征性内脏畸形"],[108977,"非综合征性膈或腹壁畸形"],[108979,"综合征性膈或腹壁畸形"],[108985,"弃用：非综合征性眼部发育缺陷"],[108987,"弃用：综合征性眼部发育缺陷"],[108989,"非综合征性中枢神经系统畸形"],[108991,"以中枢神经系统畸形为主要特征的综合征"],[108993,"非综合征性呼吸或纵隔畸形"],[108995,"综合征性呼吸或纵隔畸形"],[108997,"罕见贫血"],[108999,"毒性作用所致罕见疾病"],[109007,"关节弯曲综合征"],[109009,"以肢体畸形为主要特征的综合征"],[109011,"非综合征性肢体畸形"],[117569,"罕见肠道疾病"],[117573,"综合征性肛门直肠畸形"],[137577,"新生儿缺氧缺血性脑损伤",["新生儿缺血缺氧性脑病"]],[137583,"外阴上皮内瘤变",["外阴上皮内肿瘤"]],[137586,"弃用：单纯疱疹病毒性角膜炎",["疱疹性角膜炎"]],[137593,"感染性上皮性角膜炎"],[137596,"神经营养性角膜病变",["神经营养性角膜炎"]],[137599,"单纯疱疹病毒角膜基质炎"],[137602,"内皮炎"],[137605,"Legius 综合征",["神经纤维瘤1样综合征"]],[137608,"节段性过度生长-脂肪增多症-动静脉畸形-表皮痣综合征",["SOLAMEN综合征"]],[137617,"肾源性系统性纤维化",["肾源性纤维性皮肤病"]],[137622,"顽固性腹泻后鼻孔闭锁眼异常综合征"],[137625,"肌肉和心脏糖原合酶缺乏所致糖原贮积病",["肌糖原和心脏糖原合成酶缺陷所致糖原贮积症"]],[137628,"心脏异常-异构综合征"],[137631,"肺纤维化-免疫缺陷-46，XX性腺发育不全综合征"],[137634,"生长过度-大头畸形-面部畸形综合征"],[137639,"髓鞘形成不足脑白质营养不良-共济失调-牙发育不良-髓鞘形成不足综合征",["共济失调-牙发育不良-髓鞘减少综合征"]],[137653,"小头畸形-指异常-智力障碍综合征",["Kelly-Kirson-Wyatt综合征"]],[137658,"小头畸形-智力障碍-指和神经异常综合征",["Woods-Crouchman-Huson综合征"]],[137667,"毛细血管畸形-动静脉畸形",["CM-AVM"]],[137672,"边缘角膜透明变性"],[137675,"组织细胞样心肌病",["婴幼儿心肌病伴组织细胞样变"]],[137678,"跖骨型Czech发育不良",["Czech dysplasia, metatarsal type","SED with metatarsal shortening"]],[137681,"复合性氧化磷酸化缺陷所致肝性脑病1型",["联合氧化磷酸化缺陷1型所致肝性脑病"]],[137686,"Asherman 综合征"],[137698,"伴细胞介导免疫功能受损风险患者的巨细胞病毒病",["细胞免疫受损患者中的巨细胞病毒病"]],[137754,"氨基酰化酶1缺陷相关神经系统疾病",["N-酰基-L-氨基酸酰胺水解酶缺陷"]],[137776,"致死性先天性挛缩综合征2型",["多发性挛缩综合征Israeli-Bedouin型"]],[137783,"致死性先天性挛缩综合征3型",["LCCS3"]],[137807,"原发性皮肤淀粉样变",["原发性皮肤淀粉样变病"]],[137810,"结节性皮肤淀粉样变",["原发性皮肤结节性淀粉样变性"]],[137814,"斑状淀粉样变性"],[137817,"蛛网膜炎",["粘连性蛛网膜炎"]],[137820,"盆腔外子宫内膜异位症",["盆腔外子宫内膜异位症"]],[137831,"X连锁遗传智力障碍-小脑发育不全综合征",["Oligophrenin-1综合征"]],[137834,"Frank-Ter Haar综合征",["Ter Haar综合征"]],[137839,"Lemierre综合征",["口咽部感染所致咽峡后脓毒血症"]],[137862,"MartÝnez-FrÝas综合征",["十二指肠和肝外胆道闭锁-胰腺发育不良-肠旋转不良综合征"]],[137867,"Madras运动神经元病",["MMND"]],[137871,"弃用：Decaudain Vigouroux型核纤层蛋白病",["核纤层蛋白病伴有严重代谢综合征和肌病"]],[137888,"耳-髁突综合征",["问号耳综合征"]],[137893,"大头部多鞭毛息肉状异常精子所致男性不育症",["巨精子头综合征"]],[137898,"脑干脊髓受累脑白质病-高乳酸综合征",["LBSL"]],[137902,"孤立性视神经发育不全/不发育"],[137905,"综合征性视神经发育不全"],[137908,"肌张力减退伴乳酸血症和高氨血症",["联合氧化磷酸化缺陷5型"]],[137911,"孤独症-面部葡萄酒色斑综合征"],[137914,"鼻后孔闭锁"],[137917,"单侧鼻后孔闭锁"],[137920,"双侧鼻后孔闭锁"],[137923,"弃用：颈面部淋巴管畸形"],[137926,"原发性喉淋巴管瘤"],[137929,"新生儿脑干功能障碍"],[137932,"先天性喉麻痹",["先天性声带麻痹"]],[137935,"喉气管血管瘤"],[138041,"Pierre-Robin综合征伴胶原疾病",["Pierre-Robin序列征相关胶原病"]],[138044,"伴皮埃尔-罗宾综合征的罕见病"],[138047,"染色体异常相关Pierre-Robin综合征",["Pierre-Robin序列征相关染色体异常"]],[138050,"鳃弓异常相关Pierre-Robin综合征",["Pierre-Robin序列征相关鳃弓畸形"]],[138055,"骨病相关Pierre-Robin综合征",["Pierre-Robin序列征相关骨病"]],[138059,"致畸性Pierre Robin综合征",["致畸性Pierre-Robin序列征"]],[138063,"弃用：与Pierre Robin综合征相关的综合征",["Pierre-Robin序列征相关综合征"]],[138066,"弃用：与其他各种异常相关的Pierre-Robin综合征",["Pierre-Robin序列征相关各类异常"]],[138069,"Pierre-Robin综合征无关的吞咽障碍",["与Pierre-Robin序列征无关的吮吸/吞咽障碍"]],[138072,"已知综合征相关吞咽障碍"],[138076,"染色体异常相关吞咽障碍"],[138080,"症状性吞咽障碍伴不明综合征"],[138084,"颈面部或食管畸形相关吞咽障碍"],[138095,"神经异常相关吞咽障碍"],[138101,"球上异常相关的吞咽障碍"],[138104,"基底节异常相关吞咽障碍"],[138109,"后颅窝异常相关吮吸/吞咽障碍"],[138112,"小脑异常相关吞咽障碍"],[138115,"神经肌肉疾病相关吞咽障碍"],[138118,"弃用：婴儿获得性进食行为障碍"],[138221,"罕见吮吸/吞咽障碍"],[139006,"弃用：序列或关联"],[139009,"代谢性发育异常"],[139012,"罕见骨发育障碍",["罕见骨骼发育障碍"]],[139015,"弃用：软骨发育不良型畸形综合征"],[139018,"弃用：影响骨骼的非软骨发育不良型畸形综合征"],[139021,"身材矮小畸形综合征"],[139024,"过度生长/肥胖综合征"],[139027,"伴皮肤/粘膜受累的罕见发育缺陷"],[139030,"伴结缔组织受累的罕见发育缺陷"],[139033,"类早老综合征"],[139036,"鳃弓或口腔-肢端综合征"],[139039,"口面部裂综合征"],[139042,"牙和/或牙周组织发育不良综合征"],[139373,"弃用：隐性遗传高铁血红蛋白血症1型",["隐性先天性高铁血红蛋白血症1型"]],[139380,"弃用：隐性遗传高铁血红蛋白血症2型",["隐性先天性高铁血红蛋白血症2型"]],[139390,"孤立性颅缝早闭"],[139393,"综合征性颅缝早闭"],[139396,"X连锁遗传脑肾上腺脑白质营养不良",["X-CALD"]],[139399,"肾上腺髓质神经病"],[139402,"伴嗜酸性粒细胞增多症和全身症状的药疹",["药物反应嗜酸性粒细胞增多性系统性综合征"]],[139406,"鞘脂激活蛋白原缺乏所致脑病",["联合型鞘脂激活蛋白原缺乏"]],[139411,"Carney三联病"],[139414,"先天性panfollicular痣"],[139417,"急性横贯性脊髓炎"],[139420,"继发性急性横贯性脊髓炎",["疾病相关性横贯性脊髓炎"]],[139423,"特发性急性横贯性脊髓炎",["急性横贯性脊髓炎/横贯性脊髓炎"]],[139426,"口周肌阵挛伴失神发作",["POMA"]],[139431,"Jeavons综合征",["眼睑肌阵挛伴或不伴缺如"]],[139436,"多中心性网状组织细胞增多症",["巨细胞性组织细胞瘤"]],[139441,"髓鞘形成不足伴基底节和小脑萎缩",["H-ABC"]],[139444,"脑白质病伴双侧颞叶前叶囊肿"],[139447,"进行性空泡性脑白质病"],[139450,"小耳畸形-眼缺损-鼻泪管闭锁综合征",["Balikova-Vermeesch综合征"]],[139455,"常染色体隐性遗传卵黄样营养不良",["视网膜病Burgess-Black型"]],[139466,"SERKAL综合征",["性别逆转-肾脏、肾上腺和肺发育不全综合征"]],[139471,"小眼畸形伴脑和手指异常",["症状性小眼6型"]],[139474,"17q11.2微重复综合征",["Grisart-Destrée综合征"]],[139477,"Al-Gazali-Dattani综合征"],[139480,"常染色体隐性遗传痉挛性截瘫39型",["神经病靶标酯酶所致痉挛性截瘫"]],[139485,"辅酶Q缺乏所致常染色体隐性遗传共济失调",["辅酶Q10缺陷所致常染色体隐性遗传共济失调"]],[139491,"血色病4型",["常染色体显性遗传血色素沉着症"]],[139498,"欧洲非罕见：血色病1型",["HFE相关血色素沉着症"]],[139507,"非洲铁过载症",["Bantu铁质沉着"]],[139512,"伴有听力障碍的神经病变"],[139515,"Charcot-Marie-Tooth病4J型",["CMT4J"]],[139518,"远端型遗传性运动神经病1型",["常染色体显性遗传远端脊髓性肌萎缩1型"]],[139525,"远端型遗传性运动神经病2型",["远端脊髓性肌萎缩症2型"]],[139536,"远端型遗传性运动神经病5型",["远端遗传性运动神经病5型"]],[139547,"远端脊髓性肌萎缩症3型",["常染色体隐性遗传远端脊髓性肌萎缩症3型"]],[139552,"Jerash型远端型遗传性运动神经病",["常染色体隐性遗传远端脊髓性肌萎缩症2型"]],[139557,"X连锁遗传远端脊髓性肌萎缩症3型",["ATP7A基因相关远端运动神经病"]],[139564,"遗传性感觉和自主神经病变1B型",["遗传性感觉和自主神经病变1型伴咳嗽和胃食管反流"]],[139573,"遗传性感觉和自主神经病变伴耳聋和全面发育迟缓",["遗传性感觉和自主神经病变伴有听力损失和全面发育迟缓"]],[139578,"残废性遗传性感觉神经病变伴痉挛性截瘫",["残毁性HSAN伴痉挛性截瘫"]],[139583,"X连锁遗传性感觉和自主神经病变伴耳聋",["X连锁遗传性感觉和自主神经病变伴耳聋"]],[139589,"远端型遗传性运动神经病7型",["远端脊髓性肌萎缩伴声带麻痹"]],[140162,"遗传性癌症易感综合征"],[140286,"甲状旁腺激素分泌受损所致继发性甲状旁腺功能减退"],[140428,"弃用：遗传性铁超载症伴神经症状"],[140432,"弃用：遗传性铁超载症伴贫血"],[140436,"原发性骨内静脉畸形",["骨性静脉畸形"]],[140450,"弃用：遗传性运动和感觉神经病",["HMSN"]],[140453,"常染色体显性遗传脱髓鞘性运动和感觉神经病"],[140456,"常染色体显性遗传轴索运动和感觉神经病"],[140459,"常染色体隐性遗传脱髓鞘性运动和感觉神经病"],[140462,"弃用：X连锁隐性遗传轴索运动和感觉神经病"],[140465,"常染色体显性遗传远端型遗传运动神经病",["常染色体显性遗传远端脊髓性肌萎缩"]],[140468,"常染色体隐性遗传远端型遗传运动神经病",["常染色体隐性遗传远端脊髓性肌萎缩"]],[140471,"遗传性感觉和自主神经病变",["HSAN"]],[140474,"常染色体显性遗传感觉和自主神经病变"],[140477,"常染色体隐性遗传感觉自主神经障碍"],[140481,"常染色体显性遗传神经传导速度减缓"],[140500,"神经离子通道病"],[140503,"离子通道病"],[140653,"神经-眼病"],[140874,"Joubert综合征及相关障碍",["JSRD"]],[140896,"严重急性呼吸道综合征",["SARS","SARS-1"]],[140905,"肝脂酶缺乏症",["肝三酰甘油脂肪酶缺陷所致高脂血症"]],[140908,"短指/趾B2型"],[140917,"拇指和脚趾镫骨关节强直症",["Teunissen-Cremers综合征"]],[140922,"肢带肌萎缩症2J型",["常染色体隐性遗传肢带肌萎缩症2J型"]],[140927,"良性家族性新生儿-婴儿痉挛",["良性新生儿-婴儿癫痫"]],[140933,"Moulin 线状皮肤萎缩"],[140936,"Lelis 综合征",["外胚层发育不良-黑棘皮病综合征"]],[140941,"原发性酸不稳定亚单位缺乏所致矮小"],[140944,"先天性脂肪瘤样增生，血管畸形和表皮痣综合征",["先天性脂肪性过度生长-血管畸形-表皮痣-脊髓畸形综合征"]],[140949,"低血流阴茎异常勃起"],[140952,"并趾畸形、内眦距过宽和肛门生殖器及肾畸形",["STAR综合征"]],[140957,"常染色体显性遗传巨血小板减少症"],[140963,"双侧小耳畸形-听力障碍-腭裂综合征",["双侧小耳畸形-听力损失-腭裂综合征"]],[140966,"Nagashima 型掌跖角化症",["掌跖过度角化症Nagashima 型"]],[140969,"Saldino-Mainzer综合征",["肾发育不良-视网膜色素营养不良-小脑共济失调-骨骼发育不良综合征"]],[140976,"RHYNS综合征",["视网膜色素变性-垂体功能减退症-肾消耗病-骨骼发育不良综合征"]],[140989,"原发性中枢神经系统血管炎",["孤立性中枢神经系统血管炎"]],[140997,"口面指综合征",["口面指综合征"]],[141000,"口面指综合征11型",["口面指综合征Gabrielli型"]],[141007,"口面指综合征9型",["口面指综合征伴视网膜异常"]],[141013,"第一鳃裂畸形",["第一鳃裂瘘管"]],[141022,"第二鳃裂畸形",["第二鳃裂瘘管"]],[141030,"第三鳃裂畸形",["第三鳃裂瘘管"]],[141037,"第四鳃裂畸形",["第四鳃裂瘘管"]],[141046,"颈部皮样囊肿",["颈部皮样囊肿"]],[141051,"面部皮样囊肿",["脸部皮样囊肿"]],[141061,"口角瘘管"],[141064,"下唇瘘管"],[141067,"颈面部纤维软骨瘤"],[141071,"舌部消化道源性囊肿",["舌部前肠重复囊肿"]],[141074,"先天性外耳道发育不良",["外耳道狭窄/闭锁"]],[141077,"上颌寄生胎畸胎",["口咽畸胎瘤"]],[141083,"鼻泪管囊肿",["鼻泪粘液囊肿"]],[141091,"多发性鼻炎",["双鼻"]],[141096,"先天性副鼻畸形",["副鼻孔"]],[141099,"鼻侧缘畸形",["先天性管状鼻"]],[141103,"鼻部皮样囊肿",["鼻皮样窦囊肿"]],[141107,"鼻咽畸胎瘤",["鼻咽畸胎瘤"]],[141112,"鼻部神经胶质异位",["鼻胶质瘤"]],[141115,"鼻部神经节胶质瘤"],[141118,"鼻部脑膨出"],[141121,"先天性声门下狭窄"],[141124,"先天性喉囊肿"],[141127,"先天性气管狭窄"],[141132,"眼-耳-脊柱谱系异常",["眼-耳-脊柱序列征"]],[141136,"耳下颌骨综合征",["第一鳃弓综合征"]],[141145,"半侧颜面增生",["半侧颜面肥大"]],[141148,"半侧颜面肌肉增生"],[141152,"先天性舌发育不全/无舌症"],[141163,"舌腭关节强直",["Cosack综合征"]],[141168,"额鼻部动静脉畸形"],[141171,"上颌部动静脉畸形",["上颌动静脉畸形"]],[141174,"下颌动静脉畸形",["下颌动静脉畸形"]],[141179,"非消退性先天性血管瘤",["NICH"]],[141184,"快速消退性先天性血管瘤",["RICH"]],[141189,"大脑面部动静脉畸形综合征",["CAMS"]],[141194,"大脑面部动静脉畸形综合征1型",["CAMS1"]],[141199,"大脑面部动静脉畸形综合征3型",["CAMS3"]],[141209,"弥漫性淋巴管畸形",["播散性淋巴管畸形"]],[141214,"孤立性先天连颌畸形",["孤立性先天性上颌骨融合"]],[141219,"鼻背侧瘘管"],[141229,"面裂",["颅面裂"]],[141234,"正中面裂",["Tessier0-14型和30型面裂"]],[141239,"上唇和上颌正中裂"],[141242,"旁正中鼻裂",["孤立性鼻翼裂"]],[141253,"斜面裂",["眶面裂"]],[141258,"Tessier 4型面裂"],[141261,"Tessier5型面裂"],[141265,"Tessier6型面裂"],[141269,"侧部面裂"],[141276,"Tessier 7型面裂",["联合性面裂"]],[141288,"颈中线裂"],[141291,"唇裂和齿槽裂"],[141327,"口面指综合征12型",["口-面-指综合征12型"]],[141330,"口面指综合征13型",["口-面-指综合征13型"]],[141333,"Biemond 综合征2型",["性腺功能减退-矮小-眼组织缺损-轴前性多指综合征"]],[155832,"罕见的头颈部畸形"],[155835,"面部及口腔的囊肿和瘘管"],[155838,"耳廓瘘管或囊肿"],[155867,"近中线面裂",["Tessier1-1和2-12型面裂"]],[155878,"粘膜下腭裂"],[155884,"上眼睑缺损",["上眼睑缺损"]],[155889,"下眼睑缺损",["下睑缺损"]],[155896,"口下颌骨发育不良"],[155899,"下颌骨颜面发育不全",["双侧对称性耳-下颌发育不良"]],[156005,"原发性早发性青光眼"],[156071,"弃用：圆锥角膜"],[156140,"主要累及大血管的血管炎"],[156143,"主要累及中等血管的血管炎"],[156146,"主要累及小血管的血管炎"],[156149,"免疫复合物介导的血管炎"],[156152,"抗中性粒细胞胞浆抗体血管炎",["抗中性粒细胞胞浆抗体相关小血管炎"]],[156156,"脂肪萎缩伴糖尿病、白斑丘疹、肝脂肪变性和肥厚型心肌病"],[156159,"孤立性肌张力障碍",["单纯型肌张力障碍"]],[156162,"肾病相关纤毛类疾病"],[156165,"视网膜睫状体病"],[156168,"视网膜色素变性-1基因突变所致视网膜睫状体病",["RP1基因突变所致视网膜睫状体病变"]],[156171,"RPGR基因突变所致视网膜睫状体病"],[156174,"RPGRIP基因突变所致视网膜睫状体病"],[156177,"Usher基因突变所致视网膜睫状体病"],[156180,"肾消耗病基因突变所致视网膜睫状体病"],[156183,"Bardet-Biedl基因突变所致视网膜睫状体病"],[156202,"单基因综合征相关耳下颌骨综合征"],[156207,"巨舌症"],[156212,"舌发育不全/无舌"],[156215,"口下颌-肢体畸形综合征"],[156224,"麻痹性面部畸形"],[156230,"面部动静脉畸形"],[156237,"头颈部畸形相关综合征或畸形"],[156243,"耳廓及外耳道异常"],[156246,"鼻腔异常"],[156249,"喉畸形"],[156252,"气管畸形"],[156532,"罕见心脏畸形综合征"],[156601,"罕见遗传性肝病"],[156604,"遗传性肝实质病"],[156607,"遗传性胆道疾病"],[156610,"罕见遗传性呼吸道疾病"],[156619,"罕见的遗传性泌尿生殖疾病"],[156622,"遗传性泌尿生殖道畸形"],[156629,"罕见遗传性高血压"],[156638,"罕见遗传性内分泌疾病"],[156643,"遗传性内分泌生生长疾病"],[156723,"Piepkorn 发育不良",["肋骨短缩-颅缝融合-多指并指综合征"]],[156728,"Matrlin-3型脊柱干骺端发育不良",["SEMD MATRILIN-3型"]],[156731,"罗兰-德布奎斯型节段性发育不良"],[157215,"伴尿钙过多的遗传性低血磷性佝偻病",["HHRH"]],[157713,"先天性或早期婴儿CACH综合征"],[157716,"婴儿晚期CACH综合征"],[157719,"青少年或成人CACH综合征"],[157769,"内脏异位",["不完全性内脏逆位"]],[157788,"尿道下裂-眼距过宽-眼缺损-耳聋综合征",["尿道下裂-尿道增生症-尿道缺陷症与听力损失综合征"]],[157791,"上皮样血管内皮瘤"],[157794,"遗传性混合性息肉病综合征",["HMPS"]],[157798,"增生性息肉综合征",["锯齿状息肉病"]],[157801,"骨性融合并指联合指骨骨量减少症",["并指Malik-Percin型"]],[157808,"先天性四肢假关节病",["先天性四肢假关节病"]],[157820,"低温诱导出汗综合征",["CISS"]],[157823,"Kl³ver-Bucy 综合征"],[157826,"先天性牙龈瘤",["先天性颗粒细胞瘤"]],[157832,"额鼻发育不良综合征"],[157835,"阵发性偏头痛"],[157843,"三叉自主神经性头痛"],[157846,"大脑铁沉积的神经退行性变性3型",["铁蛋白相关神经退行性病变"]],[157850,"大脑铁沉积型神经退行性病变1型",["神经退行性病变伴有脑铁沉积1型"]],[157855,"HARP综合征",["低脂蛋白血症-棘红细胞增多症-色素性视网膜炎-苍白球变性综合征"]],[157941,"类亨廷顿病1",["早发型朊病毒病伴显著精神症状"]],[157946,"类亨廷顿病3",["HDL3"]],[157949,"细胞和体液免疫缺陷合并肉芽肿",["RAG1/2缺陷所致联合免疫缺陷"]],[157954,"ANE综合征",["脱发症-进行性神经缺陷-内分泌病综合征"]],[157962,"眼耳综合征"],[157965,"SLC39A13基因相关脊柱畸形 Ehlers-Danlos 综合征",["脊柱畸形型Ehlers-Danlos 综合征"]],[157973,"LMNA基因突变先天性肌营养不良",["LMNA基因相关先天性肌营养不良"]],[157980,"欧洲非罕见：膀胱癌"],[157987,"非朗格汉斯细胞组织细胞增多症"],[157991,"泛发性发疹性组织细胞增生病",["泛发性发疹性组织细胞瘤"]],[157997,"良性头部组织细胞增多症"],[158000,"幼年性黄色肉芽肿"],[158003,"播散性黄瘤",["Montgomery综合征"]],[158008,"丘疹性黄瘤"],[158011,"渐进性坏死性黄肉芽肿"],[158014,"Rosa´-Dorfman 疾病",["窦组织细胞增生症伴大量淋巴结病变"]],[158019,"不确定细胞组织细胞增多症",["不明原因树突状细胞瘤"]],[158022,"进行性结节性组织细胞增多症"],[158025,"遗传性进行性粘液组织细胞增多症"],[158029,"海蓝色组织细胞病"],[158032,"噬血细胞综合征",["噬血细胞性淋巴组织细胞增多症"]],[158038,"原发性噬血细胞性淋巴组织细胞增多症",["遗传性噬血细胞性淋巴组织细胞增多症"]],[158041,"继发性噬血细胞性淋巴组织细胞增多症",["获得性噬血细胞性淋巴组织细胞增多症"]],[158048,"感染相关噬血细胞综合征",["病毒相关性噬血细胞综合征"]],[158057,"获得性噬血细胞性淋巴组织细胞增多症伴恶病质"],[158061,"吞噬细胞激活综合征"],[158124,"遗传性痴呆"],[158266,"亨廷顿病样综合征",["亨廷顿病样综合征"]],[158300,"罕见遗传性血液病"],[158661,"基底层上单纯性大疱性表皮松解症"],[158665,"基底层单纯性大疱性表皮松解症"],[158668,"斑菲素蛋白缺乏单纯性大疱性表皮松解症",["外胚层发育不良-皮肤脆性综合征"]],[158673,"肢端营养不良性大疱性表皮松解症",["Localized DEB, acral form"]],[158676,"显性营养不良大疱性表皮松解症（仅指甲）",["仅指甲受累的DDEB"]],[158681,"单纯大疱性表皮松懈症伴可迁移性环状红斑",["EBS with circinate migratory erythema","EBS-migr"]],[158684,"单纯性大疱性表皮松解症伴幽门闭锁",["EBS with pyloric atresia","EBS-PA"]],[158687,"大疱性皮肤松解，致死性皮肤棘层松解"],[158766,"典型色素性荨麻疹"],[158769,"斑块型色素性荨麻疹"],[158772,"结节型色素性荨麻疹"],[158775,"郁积型全身肥大细胞增多症"],[158778,"孤立性骨髓肥大细胞增多症"],[158793,"弃用：淋巴腺病性肥大细胞增多症伴嗜酸性粒细胞增多症"],[158796,"弃用：典型肥大细胞白血病"],[158799,"弃用：白细胞不增多肥大细胞白血病"],[160148,"帽状息肉病",["炎性肌腺性息肉"]],[162516,"单纯性先天性鼻梨状窝狭窄",["孤立性鼻梨状孔发育不良"]],[162521,"弃用：先天性鼻梨状窝狭窄伴前脑无裂畸形",["梨状孔伴前脑全裂"]],[162526,"孤立性先天性听骨畸形",["先天性听小骨畸形不伴外耳畸形"]],[163209,"神经元异常迁移所致非综合征性脑畸形",["神经元异常迁移所致脑畸形"]],[163525,"亚急性皮肤红斑狼疮"],[163528,"弃用：急性皮肤红斑狼疮"],[163531,"慢性皮肤红斑狼疮"],[163582,"罕见细菌性传染病"],[163585,"罕见病毒性疾病"],[163588,"罕见寄生虫病"],[163591,"罕见真菌病"],[163596,"HbBart's 胎儿水肿综合征",["血红蛋白Bart's胎儿水肿"]],[163631,"胆汁酸合成缺陷伴胆汁淤积及吸收障碍"],[163634,"Maffucci 综合征"],[163637,"妊娠、分娩和产褥期相关罕见疾病"],[163649,"Nishimura 型脊柱骨骺发育不良",["脊柱骨骺发育不良-颅缝闭合-腭裂-白内障-智力障碍综合征"]],[163654,"Cantu 型脊柱骨骺发育不良",["脊柱骨骺发育不良-短指-言语障碍综合征"]],[163662,"Reardon 型脊柱骨骺发育不良"],[163665,"Kohn型迟发性脊柱骨骺发育不良"],[163668,"MacDermot 型脊柱骨骺发育不良",["脊柱骨骺发育不良-近视-感音神经性聋综合征"]],[163673,"Byers 型脊柱骨骺发育不良",["脊柱骨骺发育不良-点状角膜营养不良综合征"]],[163678,"弃用：未分类的脊椎间隙发育不良"],[163681,"皮质发育不良型癫痫综合症",["CDFE综合征"]],[163684,"脑白质病伴肌张力障碍和运动神经病"],[163690,"肌张力低下-胱氨酸尿症综合征",["HCS"]],[163693,"2p21 微缺失综合征",["2p21缺失综合征"]],[163696,"渐进型肌阵挛癫痫4，有或无肾功能衰竭",["进行性肌阵挛癫痫4型"]],[163699,"肺泡状软组织肉瘤",["泡状软组织肉瘤"]],[163703,"感染发热相关癫痫综合征",["学龄儿童热性难治性癫痫脑病"]],[163708,"隐源性迟发性癫痫痉挛",["晚发性婴儿痉挛"]],[163717,"良性家族性近中颞叶癫痫",["良性FMTLE"]],[163721,"罗兰迪克性癫痫-言语障碍综合征"],[163727,"Rolandic 癫痫-运动诱发肌张力障碍-书写痉挛综合征",["Rolandic癫痫 运动诱发性肌张力障碍"]],[163746,"外周脱髓鞘病变，中枢髓鞘形成障碍，Waardenburg综合征和Hirschsprung病",["神经性Waardenburg-Shah综合征"]],[163892,"边缘脑炎"],[163895,"副肿瘤性边缘脑炎"],[163898,"典型副肿瘤性边缘脑炎",["典型副肿瘤性边缘叶脑炎伴或不伴细胞内抗原"]],[163903,"细胞膜抗原抗体相关性边缘脑炎"],[163908,"边缘脑炎伴LGI1抗体",["抗富亮氨酸胶质瘤失活1蛋白抗体阳性边缘性脑炎"]],[163914,"弃用：边缘脑炎伴nCMAgs抗体",["边缘叶脑炎伴新型细胞膜抗原抗体"]],[163918,"非副肿瘤性边缘脑炎"],[163921,"移植后急性边缘脑炎",["PALE"]],[163924,"非疱疹性急性边缘脑炎"],[163927,"掌跖脓疱病",["局限性脓疱型银屑病"]],[163931,"拇趾连续性肢端皮炎"],[163934,"特应性角膜结膜炎"],[163937,"脑桥和小脑发育不全的智力发育迟缓和小头畸形",["X连锁智力障碍-小头畸形-桥小脑发育不全综合征"]],[163953,"Raymond 型X连锁型智力障碍综合征"],[163956,"Nascimento 型X连锁型智力障碍综合征",["X连锁智力障碍-指甲营养不良-癫痫综合征"]],[163961,"X连锁脑-小脑缺损综合征",["Kroes型X连锁智力障碍"]],[163966,"Chassaing-Lacombe型X连锁显性软骨发育不良",["X连锁显性遗传软骨发育不良-脑积水-小眼畸形综合征"]],[163971,"Cilliers 型X连锁智力障碍",["X连锁智力障碍-小头畸形-睾丸衰竭综合征"]],[163976,"Van Esch 型X连锁型智力障碍综合征"],[163979,"X连锁智力障碍-颅颌面骨综合征"],[163982,"X连锁智力障碍-痉挛性四肢瘫综合征"],[163985,"早期婴儿型癫痫性脑病8型"],[163988,"弃用: Hildebrand 型发育迟缓性耳聋综合征"],[164001,"罕见牙齿或牙周疾病"],[164004,"中耳畸形"],[164726,"急性髓系白血病与辐射相关骨髓增生异常综合征",["AML与辐射相关骨髓增生异常综合征"]],[164736,"家族性睡眠时相延迟综合征",["FASPS"]],[164823,"罕见获得性再生障碍性贫血"],[165652,"罕见遗传性胃肠疾病"],[165655,"遗传性肠道疾病"],[165658,"遗传性胃食管疾病"],[165661,"遗传性胰腺病"],[165704,"非综合征性泌尿生殖道畸形"],[165707,"综合征性泌尿生殖道畸形"],[165711,"罕见腹部外科疾病"],[165805,"家族性近中颞叶癫痫伴发热性惊厥发作"],[165955,"伤口蝇蛆病",["创伤性蝇蛆病"]],[165958,"空洞性蝇蛆病"],[165961,"弃用: 皮下蝇蛆病"],[165985,"二氮嗪敏感型弥漫性高胰岛素血症",["二氮嗪敏感型弥漫性高胰岛素低血糖症"]],[165988,"二氮嗪抵抗型弥漫性高胰岛素血症",["二氮嗪抵抗型弥漫性高胰岛素低血糖症"]],[165991,"运动性高胰岛素血症",["单羧酸转运蛋白1缺陷所致高胰岛素血症"]],[165994,"垂体甲状腺激素抵抗",["垂体对甲状腺激素选择性抵抗"]],[166002,"9型胶原异常所致多发性骨骺发育不良"],[166011,"Beighton 型多发性骨骺发育不良",["多发性骨骺发育不良-近视-听力损失综合征"]],[166016,"Lowry 型多发性骨骺发育不良",["多发性骨骺发育不良伴Robin表型"]],[166024,"Al-Gazali型多发性骨骺发育不良",["多发性骨骺发育不良-大头畸形-特征性面容综合征"]],[166029,"多发性骨骺发育不良伴重度股骨近端发育不良"],[166032,"多发性骨骺发育不良伴小骨骺"],[166035,"短指-矮小-视网膜色素变性综合征"],[166038,"Kaitila 型骺板软骨发育不良"],[166063,"桥脑小脑发育不全4型",["致命性婴儿脑病伴橄榄体脑桥小脑发育不良"]],[166068,"桥脑小脑发育不全5型",["胎儿起病的橄榄体脑桥小脑发育不良"]],[166073,"桥脑小脑发育不全6型",["致命性婴儿脑病伴线粒体呼吸链缺陷"]],[166078,"血管性血友病1型"],[166081,"血管性血友病2型"],[166084,"血管性血友病1A型"],[166087,"血管性血友病2B型"],[166090,"血管性血友病2M型"],[166093,"血管性血友病2N型"],[166096,"血管性血友病3型"],[166100,"常染色体显性遗传性骨骺发育不良",["斯蒂克勒综合征非眼型"]],[166105,"FASTKD2相关的婴儿线粒体脑肌病"],[166108,"Birk-Barel 型智力障碍",["智力障碍-张力过低-面部畸形综合征"]],[166113,"Bazex 综合征",["Bazex型副肿瘤性肢端角化症"]],[166119,"孤立性骨质疏松"],[166260,"牙本质发育不全2型",["牙本质发育不全Shields2型"]],[166265,"牙本质发育不全3型",["牙本质发育不全Shields3型"]],[166272,"骨软骨发育不良",["软骨发育不良-牙本质发育不全-关节松弛综合征"]],[166277,"Wormian 多发性骨折-牙本质发育不全-骨骼发育不良综合征",["Suarez-Stickle综合征"]],[166282,"家族性病态窦房结综合征"],[166286,"汗孔角化性小汗腺口及皮肤导管痣",["汗孔角化性小汗腺痣"]],[166291,"恶丝虫病"],[166295,"良性非家族性婴儿惊厥"],[166299,"婴儿良性部分性癫痫伴复杂部分性发作"],[166302,"婴儿良性部分性癫痫伴继发全身性发作"],[166305,"轻度胃肠炎相关婴儿良性惊厥"],[166308,"婴儿良性局灶性癫痫伴睡眠时中线棘波",["BIMSE"]],[166311,"婴儿良性部分性惊厥"],[166409,"光敏性癫痫"],[166412,"热水反射性癫痫"],[166415,"听源性癫痫"],[166418,"进食反射性癫痫",["进餐性惊厥"]],[166421,"性高潮诱发的惊厥"],[166424,"思考性癫痫"],[166427,"惊吓性癫痫"],[166430,"排尿诱发性癫痫"],[166433,"阅读性癫痫"],[166457,"弃用：其他形式非副肿瘤性边缘脑炎"],[166463,"癫痫综合征"],[166466,"神经皮肤综合征伴癫痫"],[166469,"以癫痫为主要特征的染色体异常"],[166472,"单基因遗传性癫痫"],[166475,"特发性或隐源性家族性癫痫综合征伴已知位点/基因"],[166478,"脑畸形伴癫痫"],[166481,"代谢性疾病伴癫痫"],[166484,"炎症和自身免疫性疾病伴癫痫"],[166487,"血管源性脑疾病伴癫痫"],[166490,"传染性疾病伴癫痫"],[166775,"获得性凝血因子缺陷所致罕见出血性疾病",["获得性凝血因子缺陷所致罕见出血障碍"]],[167635,"硬化性黏液水肿",["全身性丘疹样和硬皮病样黏液水肿性苔藓"]],[167714,"未分类急性髓系白血病",["未分类AML"]],[167759,"遗传性牙本质缺损"],[167762,"罕见疾病伴牙本质发育不全"],[167848,"罕见心肌病"],[168194,"罕见心脏肿瘤"],[168443,"脊柱干骺端发育不良-毛发减少综合征"],[168448,"Bieganski 型脊柱动脉炎性发育不良"],[168451,"脊柱干骺端发育不良-异常牙列综合征"],[168454,"GeneviÞve 型脊柱干骺端发育不良",["Geneviève型SEMD"]],[168486,"先天性神经元蜡样脂褐质贮积病",["先天性NCL"]],[168491,"婴儿晚期神经元蜡样脂褐质贮积病",["Jansky-Bielschowsky病"]],[168544,"Golden 型脊柱干骺端发育不良",["X连锁脊柱干骺端发育不良"]],[168549,"轴性椎体干骺端发育不良"],[168552,"脊柱干骺端发育不良-前臂弯曲-面部畸形综合征"],[168555,"A4型脊柱干骺端发育不良"],[168558,"46，XY性发育障碍伴 - CYP11A1缺乏所致肾上腺功能不全",["XY性逆转-肾上腺衰竭"]],[168563,"46，XY性腺发育不全 - 运动和感觉神经病综合征"],[168566,"3型氧化磷酸化缺陷所致重症线粒体疾病",["COXPD3所致致命性线粒体疾病"]],[168569,"组织细胞增生-淋巴结肿大综合征"],[168572,"美洲原住民肌病",["先天性肌病-腭裂-恶性高热综合征"]],[168577,"遗传性口形红细胞增多",["红细胞膜整合蛋白缺乏型冷水化红细胞增多症"]],[168583,"遗传性北美印第安人儿童肝硬化"],[168588,"皮质醇还原酶缺乏所致高雄激素血症",["11-β-羟基固醇脱氢酶缺乏症1型"]],[168593,"婴儿猝死伴睾丸发育不良综合征",["SIDDT"]],[168598,"蛋氨酸腺苷转移酶缺乏所致脑脱髓鞘",["蛋氨酸腺苷转移酶缺乏症"]],[168601,"肠肽酶缺乏所致先天性肠病",["先天性肠激酶缺乏症"]],[168606,"脂溢性皮炎样皮炎伴银屑病样成分"],[168609,"非综合征性线粒体感音神经性耳聋伴氨基糖苷类药物敏感",["非综合征性线粒体感音神经性听力损失伴氨基糖苷类药物敏感"]],[168612,"先天性甲胎蛋白缺乏症"],[168615,"遗传性持久性甲胎蛋白"],[168621,"Meyer型股骨头发育不良",["股骨头骨骺发育不良"]],[168624,"McGillivray型家族性舟状头综合征",["舟状头-大头-上颌后缩-智力障碍综合征"]],[168629,"常染色体血小板减少症伴血小板正常"],[168632,"广泛性基底细胞样滤泡错构瘤综合征"],[168778,"罕见全面发育障碍",["罕见自闭症谱系障碍"]],[168782,"儿童期精神分裂症",["婴儿痴呆"]],[168796,"斯洛文尼亚型心手综合征",["心脏传导疾病-扩张性心肌病-短指（趾）综合征"]],[168803,"原发性腹膜肿瘤"],[168807,"原发性恶性腹膜肿瘤"],[168811,"恶性腹膜间皮瘤",["原发性恶性腹膜间皮瘤"]],[168816,"腹膜囊性间皮瘤",["良性多囊性腹膜间皮瘤"]],[168829,"原发性腹膜癌",["卵巢外原发性腹膜癌"]],[168940,"慢性嗜酸性白血病"],[168943,"嗜酸性粒细胞增多及PDGFRA、PDGFRB或FGFR1异常相关髓系/淋巴系肿瘤"],[168947,"PDGFRA重排相关的髓系/淋巴系肿瘤"],[168950,"PDGFRB重排相关髓系/淋巴系肿瘤"],[168953,"FGFR1基因重排相关髓系/淋巴系肿瘤",["8p11骨髓增生综合征"]],[168956,"嗜酸性粒细胞增多综合征",["HES"]],[168960,"未成熟细胞过多的难治性贫血",["RAEB-t"]],[168966,"复合淋巴瘤",["复合霍奇金和非霍奇金淋巴瘤"]],[168972,"Kahrizi 综合征",["智力障碍-白内障-眼缺损-脊柱后凸综合征"]],[168984,"CLAPO 综合征"],[168999,"恶性粘膜黑色素瘤"],[169079,"Cernunnos-XLF 缺陷",["联合免疫缺陷-小头畸形-生长迟缓-电离辐射敏感综合征"]],[169082,"CD3gamma 缺乏所致重症联合免疫缺陷"],[169085,"CD8alpha链突变相关呼吸道感染易感性",["家族性CD8缺陷"]],[169090,"CRAC通道功能障碍所致联合免疫缺陷",["钙通道缺陷导致T细胞失活所致免疫功能障碍"]],[169095,"FOXN1缺乏所致重度联合免疫缺陷",["严重T细胞免疫缺陷-先天性秃发-甲营养不良综合征"]],[169100,"CD25因子缺乏免疫缺陷",["白介素-2受体α链缺乏症"]],[169105,"Good 综合征",["胸腺瘤-免疫缺陷综合征"]],[169110,"免疫球蛋白重链缺陷"],[169139,"婴儿一过性低丙种球蛋白血症"],[169142,"特异性颗粒缺乏反复感染",["嗜中性粒细胞-特异性颗粒缺乏症"]],[169147,"经典途径补体缺乏所致免疫缺陷",["C1,C4或C2补体缺乏所致免疫缺陷"]],[169150,"经典途径晚期补体缺乏所致免疫缺陷",["C5至C9补体缺乏所致免疫缺陷"]],[169154,"白细胞介素7受体α缺乏所致T-B+重症联合免疫缺陷",["IL-7α缺陷所致T-B+ SCID"]],[169157,"CD45因子缺乏所致T-B+重症联合免疫缺陷",["CD45缺乏所致T-B+ SCID"]],[169160,"CD3δ/CD3ε/CD3ζ缺乏所致T-B+重症联合免疫缺陷",["CD3β/CD3ε/CD3ζ缺乏所致T-B+ SCID"]],[169163,"家族性舟状头综合征"],[169186,"常染色体隐性遗传中央核性肌病",["AR-CNM"]],[169189,"常染色体显性遗传中央核性肌病",["AD-CNM"]],[169346,"除外T细胞和B细胞联合免疫缺陷的DNA修复缺陷"],[169349,"免疫-骨发育不良"],[169355,"自身免疫性免疫缺陷综合征"],[169361,"免疫失调伴免疫缺陷"],[169443,"特异性抗体缺乏伴正常免疫球蛋白浓度及B细胞数量"],[169446,"弃用：常染色体隐性高免疫球蛋白E综合征",["高免疫球蛋白E综合征2型"]],[169464,"原发性CD59因子缺乏"],[169467,"D因子缺乏所致复发性奈瑟菌感染"],[169615,"特发性中枢性性早熟"],[169618,"继发性中枢性性早熟"],[169793,"重度血友病B型",["重度因子Ⅸ缺乏"]],[169796,"中重度血友病B型",["中重度因子Ⅸ缺乏"]],[169799,"轻度血友病B型",["轻度因子Ⅸ缺乏"]],[169802,"重度血友病A型",["重度因子VIII缺乏"]],[169805,"中重度血友病A型",["中重度因子VIII缺乏"]],[169808,"轻度血友病A型",["轻度因子VIII缺乏"]],[169826,"先天性维生素K依赖凝血因子缺乏症"],[171201,"孤立性高位肛门直肠畸形"],[171208,"孤立性中位肛门直肠畸形"],[171215,"孤立性低位肛门直肠畸形"],[171220,"直肠重复畸形"],[171430,"严重先天性杆状体肌病"],[171433,"中间型杆状体肌病"],[171436,"典型杆状体肌病"],[171439,"儿童起病杆状体肌病",["轻度杆状体肌病"]],[171442,"成人起病杆状体肌病"],[171445,"肌纤维性肌病"],[171607,"X连锁痉挛性截瘫34型",["SPG34"]],[171612,"常染色体显性遗传痉挛性截瘫37型",["SPG37"]],[171617,"常染色体显性遗传痉挛性截瘫38型",["SPG38"]],[171622,"常染色体隐性遗传痉挛性截瘫32型",["SPG32"]],[171629,"常染色体隐性遗传痉挛性截瘫35型",["SPG35"]],[171673,"角膜缘干细胞缺乏"],[171676,"脑室周围白质软化"],[171680,"TUBA1A基因突变无脑畸形"],[171684,"特发性双侧前庭病变"],[171690,"乳酸转运体缺陷所致代谢性肌病",["红细胞乳酸转运蛋白缺陷"]],[171695,"帕金森-锥体综合征",["苍白球椎体综合征"]],[171700,"弥漫性全细支气管炎"],[171703,"小头畸形-多小脑回畸形-胼胝体发育不全综合征"],[171706,"甲状腺激素代谢缺乏所致身材矮小和骨龄延迟"],[171709,"圆头精子症所致男性不育症",["圆头精子所致男性不育症"]],[171714,"Amish婴儿期癫痫综合征",["婴幼儿起病症状性癫痫综合征-发育停滞-失明综合征"]],[171719,"皮肤松弛-马凡样综合征"],[171723,"白色海绵状痣",["遗传性粘膜白斑病"]],[171829,"6q16微缺失综合征",["6q16微缺失所致Prader-Willi样综合征"]],[171836,"釉质发育不全-牙龈增生综合征"],[171839,"颅缝早闭-脑积水-Arnold-Chiari I型畸形-尺桡骨骨性愈合综合征",["Capra-DeMarco综合征"]],[171844,"失明-脊柱侧凸-蜘蛛脚样指（趾）综合征"],[171848,"多发性神经病-听觉损失-共济失调-视网膜色素变性-白内障综合征",["多发性神经病-耳聋-共济失调-视网膜色素变性-白内障综合征"]],[171851,"MEDNIK综合征",["智力障碍-肠病-听力损失-外周神经病-鱼鳞病-皮肤角化病综合征"]],[171860,"智力障碍-白内障-脊柱后凸综合征"],[171863,"常染色体显性痉挛性截瘫42型",["SPG42"]],[171866,"蛋白聚糖型脊柱干骺端发育不良",["蛋白聚糖型SEMD"]],[171871,"肾型假性醛固酮减少症1型",["常染色体显性遗传假性醛固酮减少症1型"]],[171876,"全身性假性醛固酮减少症1型",["常染色体隐性遗传假性醛固酮减少症1型"]],[171881,"帽状肌病",["帽状病"]],[171886,"柱状螺旋体肌病"],[171889,"肌病伴六角车辐状管排列"],[171895,"髓样血液病"],[171898,"淋巴样血液病"],[171901,"原发性皮肤T细胞淋巴瘤"],[171915,"B细胞非霍奇金淋巴瘤",["B细胞NHL"]],[171918,"T细胞非霍奇金淋巴瘤",["T细胞NHL"]],[171929,"10号染色体短臂三体"],[172973,"弃用：先天性肌病伴蛋白沉积"],[172976,"先天性核肌病"],[172979,"弃用：先天性中央核肌病"],[172982,"弃用：先天性肌病伴纤维大小变异"],[172985,"弃用：先天性肌病伴空泡"],[174590,"先天性低促性腺激素性性腺功能减退症"],[177101,"罕见成人甲状腺功能减退症"],[177107,"综合征性甲状腺功能减退症"],[177901,"父源性15q11q13片段缺失所致Prader-Willi综合征1型"],[177904,"父源性15q11q13片段缺失所致Prader-Willi综合征2型"],[177907,"染色体易位所致Prader-Willi综合征"],[177910,"印记突变所致Prader-Willi综合征"],[177926,"女性A型血友病女携带者症候"],[177929,"女性B型血友病携带者症候"],[178025,"非获得性联合垂体激素缺乏不伴垂体外畸形"],[178029,"中枢性尿崩症",["神经性尿崩症"]],[178040,"罕见外周性性早熟"],[178045,"暂时性先天性甲状腺功能减退症"],[178145,"中度多轴空病累及手部"],[178148,"胎儿多轴空病伴先天性多发性关节挛缩"],[178303,"8q22.1微缺失综合征",["Nablus面具样面部综合征"]],[178307,"北村网状肢端色素沉着症",["RAK"]],[178311,"孤立性胸肋锁骨肥厚症",["孤立性SCCH"]],[178315,"肝未分化胚胎性肉瘤",["肝未分化肉瘤"]],[178320,"急性肺损伤"],[178330,"弃用：变性珠蛋白小体贫血"],[178333,"奥兰群岛眼病",["Forsius-Eriksson型眼白化病"]],[178338,"紫外线敏感综合征"],[178342,"炎性肌纤维母细胞瘤"],[178345,"芳香化酶过多综合征",["遗传性青春期前男性乳腺发育"]],[178355,"Smith-McCort 发育不良"],[178364,"综合征性小眼畸形5型",["OTX2基因突变所致综合征性小眼畸形/无眼畸形"]],[178377,"骨硬化-发育迟缓-颅缝早闭综合征"],[178382,"先天性垂直距骨",["先天性摇椅足"]],[178389,"骨硬化-低丙种球蛋白综合征",["常染色体隐性遗传破骨细胞缺乏性骨硬化症伴低丙种球蛋白血症"]],[178396,"α1-抗胰蛋白酶匹茨堡突变所致出血性疾病"],[178400,"前胫骨发病远端肌病",["远端前群肌病"]],[178461,"X连锁的体位性肌萎缩肌病",["XMPMA"]],[178464,"遗传性肌病伴早期呼吸衰竭",["遗传性包涵体肌病伴早期呼吸衰竭"]],[178469,"常染色体显性遗传非综合征性智力障碍"],[178475,"伤口型肉毒中毒",["皮肤毒素介导肉毒中毒"]],[178478,"婴儿型肉毒中毒",["婴儿型肠毒素介导肉毒中毒"]],[178481,"肠肉毒中毒",["肠毒素介导肉毒中毒"]],[178487,"成年型肠肉毒中毒",["成人型肠毒素介导肉毒中毒"]],[178493,"近视性黄斑变性",["近视性黄斑病变"]],[178503,"Dursun 综合征",["肺动脉高压-白细胞减少-房间隔缺损综合征"]],[178506,"Rajab型脑钙化"],[178509,"Perry综合征",["帕金森症伴肺泡通气不足和精神抑郁"]],[178512,"亲毛囊性蕈样肉芽肿",["蕈样肉芽肿相关毛囊皮脂腺粘蛋白累积病"]],[178517,"局限性畸形性骨炎网状细胞增多症",["Woringer-Kolopp型变形性骨炎网状细胞增多症"]],[178522,"原发性皮肤CD4+多形性小/中T细胞淋巴瘤"],[178528,"原发性皮肤侵袭性亲表皮CD8阳性细胞毒性T细胞淋巴瘤",["原发性皮肤侵袭性亲表皮CD8阳性细胞毒性T细胞淋巴瘤"]],[178533,"原发性皮肤γ/δ阳性T细胞淋巴瘤"],[178536,"原发性皮肤边缘区B细胞淋巴瘤",["PCMZL"]],[178540,"原发性皮肤滤泡中心性淋巴瘤",["PCFCL"]],[178544,"原发性皮肤弥漫性大B细胞淋巴瘤腿型",["PCDLBCL,LT"]],[178548,"惰性原发性皮肤T细胞淋巴瘤"],[178551,"侵袭性性原发性皮肤T细胞淋巴瘤"],[178554,"侵袭性性原发性皮肤B细胞淋巴瘤"],[178557,"惰性原发性皮肤B细胞淋巴瘤"],[178563,"原发性皮肤B细胞淋巴瘤"],[178566,"蕈样真菌病及其变种"],[178996,"获得性中性粒细胞减少症",["免疫中性粒细胞减少症"]],[179006,"适应性免疫缺陷所致原发性免疫缺陷"],[179490,"先天性瘦素抵抗所致肥胖"],[179494,"瘦素受体基因缺陷所致肥胖"],[180062,"子宫阴道畸形"],[180065,"非综合征性子宫阴道畸形"],[180068,"双侧苗勒管部分发育不全",["双侧苗勒管不完全发育"]],[180071,"单侧苗勒管发育不全",["单角子宫"]],[180074,"真性单角子宫",["单角子宫不伴残角"]],[180079,"假性单角子宫",["单角子宫伴残角"]],[180086,"双子宫",["双宫颈双角子宫"]],[180106,"双宫颈双角子宫伴盲端半阴道"],[180111,"双宫颈双角子宫伴宫颈阴道未闭"],[180114,"单宫颈双角子宫"],[180118,"欧洲非罕见：心形子宫",["心形子宫"]],[180122,"纵膈子宫"],[180126,"完全纵膈子宫",["完全纵膈子宫"]],[180129,"不完全纵膈子宫",["不完全纵膈子宫"]],[180134,"双角子宫"],[180139,"子宫发育不全"],[180142,"子宫体缺失"],[180145,"子宫宫颈发育不全"],[180148,"综合征性子宫阴道畸形"],[180151,"罕见阴道畸形"],[180154,"有隔阴道"],[180157,"阴道纵膈"],[180160,"阴道横膈"],[180163,"罕见乳房畸形"],[180170,"乳房体积或数量过多"],[180173,"乳房萎缩或缺失"],[180176,"家族性青少年乳腺肥大",["家族性青少年巨乳房"]],[180182,"多乳房",["副乳房"]],[180188,"孤立性先天性乳房发育不全/未发育",["孤立性先天性无乳房"]],[180193,"综合征性乳房发育不全/未发育"],[180199,"罕见非畸形性妇产科疾病"],[180202,"罕见非畸形的乳房疾病"],[180205,"罕见非畸形的子宫阴道或外阴疾病"],[180208,"青春期或/和月经周期异常"],[180220,"罕见子宫附件肿瘤"],[180226,"胚胎癌"],[180229,"多胚瘤"],[180234,"混合性生殖细胞瘤"],[180237,"输卵管良性肿瘤"],[180242,"输卵管恶性肿瘤",["恶性输卵管肿瘤"]],[180247,"阴道癌",["阴道恶性上皮肿瘤"]],[180250,"罕见乳房肿瘤"],[180253,"罕见乳房良性肿瘤"],[180257,"罕见乳房恶性肿瘤",["罕见乳腺癌"]],[180261,"乳房叶状肿瘤",["乳房叶状囊性肉瘤"]],[180267,"巨型乳腺纤维瘤"],[180275,"乳头Paget病",["乳头佩吉特病"]],[180284,"欧洲非罕见：乳腺良性导管瘤"],[180303,"罕见非畸形的子宫附件疾病"],[180312,"罕见外阴肿瘤"],[180766,"伴牙本质发育不全的畸形综合征"],[180772,"伴孤独症谱系障碍的罕见病"],[180776,"非综合征性横膈或胸廓畸形"],[180779,"综合征性横膈或胸廓畸形"],[180821,"罕见胃食管肿瘤"],[180824,"罕见胰腺肿瘤",["罕见胰腺肿瘤"]],[181368,"罕见胰岛素抵抗综合征"],[181371,"罕见1型糖尿病",["罕见胰岛素依赖型糖尿病"]],[181376,"罕见2型糖尿病",["罕见非胰岛素依赖型糖尿病"]],[181381,"其他罕见糖尿病"],[181384,"罕见下丘脑或垂体疾病"],[181387,"伴低促性腺素性功能减退的罕见病",["伴继发性性腺机能减退的罕见病"]],[181390,"促性腺素性功能减退症伴其他内分泌疾病"],[181393,"生长激素不反应性综合征",["生长激素或受体后通路缺乏所致身材矮小症"]],[181396,"罕见甲状腺功能减退症"],[181399,"罕见甲状腺功能亢进症"],[181402,"伴甲状旁腺功能减退的综合征"],[181405,"罕见甲状旁腺功能减退症"],[181408,"罕见甲状旁腺功能亢进症"],[181412,"肾上腺生殖综合征"],[181415,"罕见原发性醛固酮增多症",["罕见原发性醛固酮增多症"]],[181419,"罕见醛固酮减少症"],[181422,"罕见高脂血症"],[181425,"弃用：罕见主要高甘油三酯血症"],[181428,"高α-脂蛋白血症"],[181431,"罕见低脂血症"],[181437,"罕见综合征性血脂异常"],[181441,"罕见病伴性腺功能减退症",["伴原发性性腺机能减退的罕见病"]],[182040,"再生障碍性贫血"],[182043,"罕见全身性溶血性贫血"],[182047,"罕见获得性溶血性贫血"],[182050,"MYH9基因相关性疾病",["MYH9相关性综合征性血小板减少症"]],[182054,"罕见血液源性血栓性疾病"],[182058,"原发性直立性低血压"],[182061,"小脑畸形"],[182064,"罕见神经炎症或神经免疫性疾病"],[182067,"胶质瘤",["神经胶质瘤"]],[182070,"罕见神经退行性疾病"],[182073,"综合征性神经代谢疾病伴非X连锁智力障碍"],[182076,"综合征性神经代谢疾病伴X连锁智力障碍"],[182079,"ARX基因相关的癫痫性脑病"],[182083,"离子通道病伴癫痫"],[182086,"获得性周围神经病变"],[182090,"肺动脉高压",["PAH"]],[182095,"间质性肺病",["ILD"]],[182098,"尘肺"],[182101,"特发性嗜酸性粒细胞性肺炎"],[182104,"儿童或成人结缔组织相关继发性肺间质疾病",["CTD-ILD"]],[182108,"胸廓畸形"],[182111,"呼吸系统畸形"],[182114,"罕见泌尿生殖肿瘤"],[182117,"女性非综合征性泌尿生殖道畸形"],[182121,"男性非综合征性泌尿生殖道畸形"],[182124,"男性和女性非综合征性泌尿生殖道畸形"],[182127,"外性腺生殖细胞瘤"],[182130,"内分泌腺肿瘤"],[182214,"弃用：罕见眼部感染性疾病"],[182222,"罕见系统性疾病"],[182228,"系统性自身免疫性疾病"],[182231,"罕见风湿病"],[182734,"遗传性荨麻疹"],[183422,"多发畸形遗传综合征伴肿瘤高风险"],[183426,"遗传性表皮疾病"],[183435,"遗传性鳞藓",["遗传性鱼鳞藓"]],[183438,"遗传性角化性红皮病"],[183441,"遗传性肢端角化病"],[183444,"遗传性汗孔角化症"],[183447,"遗传性皮肤附属器异常"],[183450,"遗传性毛发异常"],[183454,"遗传性指甲异常"],[183460,"遗传性皮脂腺遗传异常"],[183463,"遗传性皮肤色素沉着异常"],[183466,"遗传性皮肤色素沉着过多"],[183469,"遗传性皮肤色素沉着过多"],[183472,"遗传性皮肤色素沉着不足"],[183478,"遗传性皮肤血管异常"],[183481,"遗传性混合性真皮异常"],[183484,"遗传性皮下组织异常"],[183487,"遗传性皮肤肿瘤"],[183490,"遗传性光照性皮肤病",["遗传性皮肤光过敏"]],[183494,"遗传性免疫缺陷伴皮肤受损"],[183497,"遗传性神经肌肉疾病"],[183500,"遗传性神经退行性疾病"],[183503,"遗传性中枢神经系统和视网膜血管病"],[183506,"遗传性中枢神经系统畸形"],[183509,"罕见遗传性头痛"],[183512,"罕见遗传性癫痫"],[183515,"罕见遗传性延髓疾病"],[183518,"罕见遗传性共济失调"],[183521,"罕见遗传性运动障碍"],[183524,"罕见遗传性骨病"],[183527,"遗传性骨肿瘤"],[183530,"罕见遗传性胚胎发育期发育障碍"],[183533,"遗传性多发性先天性遗传/异形综合征"],[183536,"遗传性先天性肢体多发畸形"],[183539,"遗传性肾脏/输尿管多发畸形"],[183542,"遗传性颅脑多发畸形"],[183545,"遗传性消化道多发畸形"],[183548,"遗传性肝血管/胆道/胰腺/脾脏多发畸形"],[183554,"遗传性呼吸系统/纵膈多发畸形"],[183557,"遗传性眼发育缺陷"],[183570,"遗传性多发畸形综合征伴身材矮小"],[183573,"遗传性过度生长/肥胖综合征"],[183576,"遗传性鳃弓或口腔肢端综合征"],[183580,"遗传性畸形综合征伴牙体或牙周成分"],[183583,"遗传性头颈多发畸形"],[183586,"遗传性肾小球疾病"],[183589,"遗传性血栓性微血管病"],[183592,"遗传性肾小管疾病"],[183595,"遗传性肾脏肿瘤"],[183598,"弃用：罕见遗传性睑、泪腺和结膜疾病"],[183601,"弃用：罕见遗传性折射异常"],[183604,"弃用：罕见遗传性青光眼"],[183607,"遗传性晶状体及睫状小带异常"],[183616,"遗传性神经-眼疾病"],[183619,"遗传性眼部肿瘤"],[183622,"遗传性呼吸系统多发畸形"],[183625,"罕见遗传性糖尿病"],[183628,"罕见遗传性下丘脑或垂体疾病"],[183631,"罕见遗传性甲状腺疾病"],[183634,"罕见遗传性甲状旁腺疾病和钙磷代谢紊乱"],[183637,"罕见遗传性肾上腺疾病"],[183643,"遗传性多内分泌病"],[183651,"罕见先天性贫血"],[183654,"罕见遗传性凝血障碍"],[183660,"重症联合免疫缺陷",["SCID"]],[183663,"高IgM综合征易患机会性感染",["HIGM伴机会致病菌易感"]],[183666,"高IgM综合征不易患机会性感染",["HIGM不伴机会致病菌易感"]],[183669,"丙种球蛋白缺乏血症"],[183672,"弃用：常见的肿瘤坏死因子受体缺陷所致多种免疫缺陷",["TNFR基因缺陷所致CIND"]],[183675,"罕见同型免疫球蛋白缺乏所致复发性感染",["IgG亚类缺陷伴IgA亚类缺项"]],[183678,"赫曼斯基-普德拉克综合征伴中性粒细胞减少",["赫曼斯基-普德拉克综合征2型"]],[183681,"功能性中性粒细胞缺陷"],[183707,"中性粒细胞免疫缺陷综合征"],[183710,"特定病原体感染的遗传易感性"],[183713,"TLR信号通路缺陷所致细菌易感性"],[183716,"弃用：原发性免疫缺陷的其他复杂综合征"],[183731,"罕见遗传性妇产科疾病"],[183734,"遗传性妇科肿瘤"],[183757,"罕见遗传性智力障碍"],[183763,"罕见遗传性综合征性智力障碍"],[183770,"罕见遗传性免疫疾病"],[189424,"弃用：双侧肾上腺皮质增生所致非肾上腺皮质激素依赖的库欣综合征"],[189427,"大结节性肾上腺增生所致库欣综合征",["原发性双侧大结节性肾上腺增生"]],[189439,"原发性色素性结节性肾上腺皮质疾病",["原发性色素性结节性肾上腺发育不良"]],[189466,"甲状旁腺激素分泌受损所致家族性孤立甲状旁腺机能减退症"],[199241,"肺毛细血管瘤"],[199244,"纳尔逊综合征"],[199247,"皮质类固醇结合球蛋白缺乏症",["运皮质激素蛋白缺乏症"]],[199251,"Ledderhose 病",["跖腱膜纤维瘤病"]],[199257,"浅表纤维瘤病"],[199260,"钙化性腱膜纤维瘤",["青少年腱膜纤维瘤病"]],[199267,"婴儿指趾纤维瘤病",["儿童期复发指趾纤维瘤病"]],[199276,"家族性多发性脂肪瘤病"],[199279,"家族性血管脂肪瘤病"],[199282,"丑角综合征",["进行性孤立阶段性无汗症"]],[199285,"遗传性高胆固醇血症和维生素A缺乏症"],[199293,"先天性小胃"],[199296,"先天性孤立性促肾上腺皮质激素缺乏症"],[199299,"迟发性单独促肾上腺皮质激素缺乏症"],[199302,"单独唇裂"],[199306,"唇腭裂",["唇裂-牙槽突裂-腭裂综合征"]],[199310,"四配子异源嵌合体",["46,XX/46,XY嵌合体"]],[199315,"家族性马蹄内翻足伴或不伴下肢畸形"],[199318,"15q13.3微缺失综合症",["15q13.3单体"]],[199323,"眼内炎"],[199326,"孤立性常染色体显性低镁血症Glaudemans型"],[199329,"先天性肌病Paradas型"],[199332,"内分泌-脑-骨骼发育不良综合征",["ECO综合征"]],[199337,"胰脏外分泌功能不足-贫血-骨肥大综合症"],[199340,"肌营养不良Selcen型"],[199343,"EAST综合征",["惊厥-感音神经性听觉丧失-共济失调-智力障碍-电解质不平衡综合征"]],[199348,"硫胺素反应性脑病"],[199351,"成人发病的肌张力障碍-帕金森综合征",["Paisan-Ruiz型肌张力障碍-帕金森症"]],[199354,"常染色体隐性型脑动脉病，伴皮质下梗死和白质脑病",["Maeda综合征"]],[199627,"非典型孤独症谱系障碍"],[199630,"孤立性小脑蚓部发育不全"],[199633,"非综合征性脑畸形",["非综合征性脑畸形"]],[199639,"以胼胝体未发育/发育不全为主要特征的综合征"],[199642,"孤立性先天性小头畸形"],[199647,"孤立性脑膨出"],[200037,"发作性肌张力障碍"],[200418,"免疫缺陷伴I因子异常",["I因子完全缺乏症"]],[200421,"免疫缺陷伴H因子异常"],[202940,"遗传性青春期或/和月经周期异常"],[202948,"综合征性小眼畸形-无眼畸形-眼缺损",["综合征性小眼畸形"]],[206428,"次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症",["次黄嘌呤鸟嘌呤磷酸核糖转移酶1缺乏症"]],[206436,"婴儿Krabbe病",["典型Krabbe病"]],[206443,"晚期婴儿/青少年Krabbe病",["迟发型Krabbe"]],[206448,"成年Krabbe病"],[206470,"儿童囊腺病",["儿童卵巢囊腺瘤"]],[206473,"卵巢交界性上皮性肿瘤",["低度潜在恶性卵巢肿瘤"]],[206484,"性腺母细胞瘤"],[206489,"阴道恶性生殖细胞瘤",["阴道生殖细胞恶性肿瘤"]],[206492,"外阴横纹肌肉瘤"],[206538,"卵巢恶性非生殖细胞瘤",["卵巢非无性细胞瘤性生殖细胞癌"]],[206546,"女性Duchenne型和Becker型肌营养不良症携带者症候"],[206549,"Anoctamin-5蛋白相关的肢带肌萎缩症R12型",["常染色体隐性遗传肢带型肌营养不良2L型"]],[206554,"Fukutin蛋白相关的肢带肌萎缩症R13型",["常染色体隐性遗传肢带型肌营养不良2M型"]],[206559,"POMT2基因相关的肢带肌萎缩症R14型",["常染色体隐性遗传肢带型肌营养不良2N型"]],[206564,"POMGNT1基因相关的肢带肌萎缩症R15型",["常染色体隐性遗传肢带型肌营养不良2O型"]],[206569,"免疫介导的坏死性肌病",["免疫性肌病伴肌细胞坏死"]],[206572,"重叠肌炎",["成人起病重叠肌炎"]],[206575,"波纹肌病伴重症肌无力",["免疫介导的波纹肌病"]],[206580,"儿童起病常染色体隐性下运动神经元病",["常染色体隐性遗传远端脊髓性肌萎缩4型"]],[206583,"成人葡聚糖多聚体神经病变",["APBD"]],[206586,"神经鞘瘤病"],[206594,"亚急性炎性脱髓鞘性多发性神经病",["亚急性炎性脱髓鞘性多发性神经根神经病"]],[206599,"孤立性无症状肌酸磷酸激酶升高",["特发性无症状高CK血症"]],[206606,"弃用：其他肌无力或慢性肌痛"],[206610,"弃用：慢性肌肉疲劳和/或慢性肌肉疼痛"],[206613,"伴周围神经病的感染性疾病"],[206616,"弃用：获得性代谢性神经病"],[206619,"弃用：中毒性或医源性神经病"],[206634,"遗传性骨肌肉病"],[206638,"获得性骨骼肌病"],[206644,"进行性肌营养不良症"],[206647,"强直性营养不良"],[206650,"常染色体显性远端肌病"],[206653,"常染色体隐性远端肌病"],[206656,"非营养不良性肌病"],[206659,"弃用：非营养不良性肌病伴6型胶原异常"],[206662,"包涵体肌病"],[206701,"延髓肌萎缩"],[206704,"儿童期延髓肌萎缩"],[206707,"成人期延髓肌萎缩"],[206710,"全身性延髓肌萎缩"],[206713,"弃用：远端脊髓肌萎缩"],[206953,"肌脂肪沉积",["脂肪贮积肌病"]],[206959,"肌糖原病",["糖原贮积肌病"]],[206966,"线粒体肌病"],[206970,"强直性综合征"],[206973,"先天性肌强直"],[206976,"周期性麻痹"],[206979,"弃用：肉芽肿性肌炎"],[206982,"肌肉肿瘤"],[206985,"弃用：药物性或中毒性肌病"],[206988,"感染性、真菌性或寄生虫性肌病"],[206991,"病毒性肌炎"],[206994,"细菌性肌炎"],[206997,"寄生虫性肌炎"],[207000,"真菌性肌炎"],[207003,"弃用：内分泌性肌病"],[207006,"弃用：获得性淀粉样肌病"],[207009,"弃用：获得性棒状体肌病"],[207012,"中枢神经系统异常相关的脊髓肌肉萎缩"],[207015,"罕见遗传性疾病伴周围神经病"],[207018,"罕见遗传性代谢疾病伴周围神经病"],[207021,"罕见遗传性系统性疾病伴周围神经病"],[207025,"罕见遗传性神经性疾病伴周围神经病"],[207028,"小脑共济失调伴周围神经病的"],[207031,"弃用：周围神经病相关的胼胝体发育不全罕见病"],[207038,"急性和亚急性炎性脱髓鞘性多发性神经病",["急性亚急性炎性脱髓鞘性多发性神经根神经病"]],[207046,"恶性淋巴瘤伴周围神经病变"],[207049,"神经肌肉疾病中的定性或定量蛋白质缺陷"],[207052,"肌聚糖的定性或定量缺陷",["肌聚糖蛋白病"]],[207060,"α-肉聚糖的定性或定量缺陷"],[207063,"β-肉聚糖的定性或定量缺陷"],[207067,"γ-肉聚糖的定性或定量缺陷"],[207070,"δ-肉聚糖的定性或定量缺陷"],[207073,"去铁胺的定性或定量缺陷",["dysferlin蛋白病"]],[207078,"窖蛋白3的定性或定量缺陷",["窖蛋白病"]],[207085,"肌营养不良蛋白的定性或定量缺陷",["肌营养不良蛋白病"]],[207090,"胶原6的定性或定量缺陷"],[207094,"层粘连蛋白亚单位α2相关的肌营养不良症",["定性或定量分层蛋白缺乏"]],[207098,"整合素α-7的定性或定量缺陷",["整合素病"]],[207101,"基底膜蛋白多糖的定性或定量缺陷"],[207104,"钙蛋白酶的定性或定量缺陷"],[207107,"三结构余蛋白32的定性或定量缺陷"],[207110,"肌管蛋白的定性或定量缺陷"],[207113,"与α-肌营养不良聚糖O-糖基化有关的蛋白质的定性或定量缺陷",["继发性α-肌营养不良蛋白聚糖病"]],[207119,"FKRP基因的定性或定量缺陷"],[207122,"fukutin的定性或定量缺陷"],[208441,"双侧矢状旁顶枕叶的多小脑回"],[208444,"双侧额叶多小脑回"],[208447,"双侧全脑多微小脑回"],[208508,"常染色体显性遗传小脑型共济失调Ⅱ型",["常染色体显性遗传小脑型共济失调2型"]],[208513,"脊髓小脑共济失调29型",["先天性非进行性脊髓小脑性共济失调"]],[208524,"疱疹样天疱疮"],[208593,"遗传性甲状旁腺机能减退"],[208596,"遗传性甲状旁腺机能亢进"],[208600,"弃用：心脏的乳头状纤维弹性瘤",["心脏乳头状纤维弹性瘤"]],[208650,"Cryopyrin蛋白相关的周期性综合征",["NLRP3相关全身性自身炎症性疾病"]],[208974,"慢性获得性脱髓鞘性多发性神经病",["CADP"]],[208978,"慢性多发性神经根神经病"],[208981,"无已知抗体的IgG / IgA / IgM单克隆丙种球蛋白病相关的多发性神经根病"],[208984,"获得性感觉神经节病",["获得性感觉神经元病"]],[208989,"非副肿瘤性感觉神经节病",["非副肿瘤性感觉神经元病"]],[208994,"弃用：与自身免疫性疾病有关的其他神经节病",["与自身免疫疾病相关的其他神经元病"]],[208999,"副肿瘤性感觉神经节病",["副肿瘤性感觉神经元病"]],[209004,"与IgG/IgM/IgA单克隆丙种球蛋白病相关的轴索性多发性神经病"],[209007,"与获得性周围神经病变相关的全身性炎症"],[209010,"单克隆丙种球蛋白病相关的周围神经病变"],[209013,"获得性淀粉样蛋白周围神经病"],[209016,"与获得性周围神经病变相关的血液疾病"],[209019,"与获得性周围神经病变相关的实体瘤"],[209024,"蛋白质O-甘露糖β1,2N-乙酰氨基葡萄糖氨基转移酶定性或定量缺陷",["POMGNT1蛋白定性或定量缺陷"]],[209027,"蛋白质糖基转移酶样定性或定量缺陷"],[209030,"蛋白质O-甘露糖基转移酶1定性或定量缺陷"],[209033,"蛋白质O-甘露糖基转移酶2定性或定量缺陷"],[209038,"肌原纤维蛋白定性或定量缺陷"],[209041,"结蛋白定性或定量缺陷"],[209044,"αB-晶体蛋白定性或定量缺陷"],[209047,"细丝蛋白C定性或定量缺陷"],[209050,"ZASP蛋白定性或定量缺陷"],[209053,"肌联蛋白定性或定量缺陷"],[209056,"端粒蛋白定性或定量缺陷"],[209059,"α-肌动蛋白定性或定量缺陷"],[209182,"伴肌动蛋白定性或定量缺陷"],[209185,"β-肌球蛋白重链（MYH7）的定性或定量缺陷"],[209188,"伊默菌素定性或定量缺陷"],[209193,"硒蛋白N1定性或定量缺陷"],[209196,"网蛋白定性或定量缺陷"],[209199,"SERCA1蛋白定性或定量缺陷"],[209203,"葡萄糖胺（UDP-N-乙酰基）-2-差向异构酶/ N-乙酰甘露糖胺激酶的定性或定量缺陷"],[209224,"Myotilin相关性肌原纤维肌病",["myotilin蛋白定性或定量缺陷"]],[209335,"常染色体显性遗传成人起病的近端脊髓性肌萎缩症",["常染色体显性遗传迟发性脊髓性肌萎缩症Finkel型"]],[209341,"DYNC1H1基因相关的常染色体显性遗传儿童期起病的近端脊髓性肌萎缩症",["DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED1"]],[209370,"重度新生儿期起病的脑病伴小头畸形",["MECP2基因突变所致重度先天性脑病"]],[209867,"常染色体显性遗传孔源性视网膜脱离"],[209886,"弃用：家族性青少年高尿酸血症肾病1型",["家族性青少年痛风性肾病"]],[209893,"欧洲非罕见：先天性孤立性甲状腺素结合球蛋白缺乏",["先天性孤立性TNG缺乏"]],[209902,"胆固醇7α-羟化酶缺陷所致高胆固醇血症"],[209905,"脑-肺-甲状腺综合征",["舞蹈手足徐动症-甲状腺机能减退-新生儿呼吸窘迫综合征"]],[209908,"儿童言语失用症",["言语语言障碍伴口面部运动障碍"]],[209916,"骨外黏液样软骨肉瘤"],[209919,"特发性铜相关性肝硬化",["非威尔逊型婴幼儿儿童肝性铜中毒"]],[209932,"椎体营养不良伴超常视杆反应",["椎体营养不良伴超常暗视视网膜电图"]],[209943,"特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征",["特发性视网膜血管炎、动脉瘤和视神经视网膜炎综合征"]],[209951,"常染色体隐性遗传痉挛性截瘫18型",["SPG18"]],[209956,"特发性葡萄膜积液综合征"],[209959,"晶状体过敏性葡萄膜炎",["晶状体成分过敏性眼内炎"]],[209964,"孤立性直肠溃疡综合征"],[209967,"发作性共济失调6型"],[209970,"发作性共济失调7型"],[209973,"儿童良性夜间交替性偏瘫"],[209978,"交叉性肢体瘫痪"],[209981,"铁难治性缺铁性贫血综合征",["铁难治性缺铁性贫血"]],[209989,"膀胱非乳头状移行细胞癌",["非乳头性尿路上皮癌"]],[210110,"中间型骨硬化病",["常染色体隐性遗传中间型骨硬化病"]],[210115,"无菌多病灶骨髓炎伴骨膜炎和脓疱病",["白细胞介素-1受体抗体剂缺乏所致自身炎症性疾病"]],[210122,"先天性肺泡毛细血管发育不良",["肺泡毛细血管发育不良伴肺血管错位"]],[210128,"尿刊酸尿",["尿刊酸酶缺乏所致脑病"]],[210133,"全白甲-棘皮病-黑质样病变-头发异常综合症"],[210136,"肺纤维化-肝增生-骨髓发育不全综合征"],[210141,"遗传性先天性痉挛性四肢瘫",["遗传性先天性痉挛性四肢瘫"]],[210144,"Boissel型致死性多畸形综合征"],[210159,"成人肝细胞癌",["成人HCC"]],[210163,"康普顿北部型先天性致死性肌病"],[210272,"上岸综合征",["上岸疾病"]],[210548,"大头畸形-智力障碍-自闭症综合征"],[210566,"肌阵挛性肌张力障碍15型",["肌阵挛性肌张力障碍15型"]],[210571,"肌张力障碍症16型",["早发型肌张力障碍帕金森症"]],[210576,"先天性颞下颌关节强直",["先天性牙关紧闭症"]],[210581,"颞下颌关节异常"],[210584,"梭形细胞血管瘤",["梭形细胞血管内皮瘤"]],[210589,"罕见部位的婴儿血管瘤"],[210592,"弃用：巨型婴儿血管瘤"],[211017,"脊髓小脑共济失调30型",["SCA30"]],[211037,"常染色体显性遗传近端脊髓性肌萎缩"],[211047,"特定学习障碍",["特定学习困难"]],[211053,"特定语言障碍",["语言障碍"]],[211062,"遗传性周期性小脑共济失调"],[211067,"发作性共济失调5型"],[211237,"罕见血管瘤"],[211240,"遗传性血管异常"],[211243,"单纯性血管畸形"],[211247,"罕见毛细血管畸形"],[211252,"罕见静脉畸形"],[211255,"罕见淋巴系统异常"],[211266,"罕见动静脉畸形"],[211277,"复杂血管畸形伴相关异常",["血管淋巴管瘤"]],[213500,"卵巢癌",["卵巢恶性肿瘤"]],[213504,"卵巢腺癌",["卵巢腺癌"]],[213512,"卵巢恶性混合性苗勒管瘤",["卵巢恶性混合性上皮间质瘤"]],[213517,"家族性卵巢癌",["家族性卵巢恶性肿瘤"]],[213524,"遗传性位点特异性卵巢癌综合征"],[213528,"罕见乳腺腺癌"],[213531,"乳腺化生性癌"],[213557,"唾液腺型乳腺癌",["唾液腺型乳腺癌"]],[213564,"罕见子宫癌",["罕见子宫恶性肿瘤"]],[213569,"罕见子宫体癌",["罕见子宫体恶性肿瘤"]],[213574,"子宫体腺癌的罕见变体"],[213589,"子宫体恶性混合性上皮间充质肿瘤",["子宫体混合性上皮间充质癌"]],[213600,"子宫体腺肉瘤"],[213605,"子宫体癌纤维瘤"],[213610,"子宫体癌肉瘤",["子宫体恶性混合型苗勒管肿瘤"]],[213615,"子宫体横纹肌肉瘤"],[213620,"子宫体肉瘤"],[213625,"子宫体平滑肌肉瘤"],[213630,"子宫体原始神经外胚层瘤",["子宫体恶性外周神经外胚层肿瘤"]],[213711,"子宫内膜间质肉瘤",["子宫体间质肉瘤"]],[213716,"子宫体鳞状细胞癌",["子宫内膜鳞状细胞癌"]],[213721,"子宫体未分化癌",["子宫内膜未分化癌"]],[213726,"子宫体乳头状癌",["子宫内膜毛细血管癌"]],[213731,"子宫体高度神经内分泌癌",["子宫体低分化神经内分泌癌"]],[213736,"子宫体低度神经内分泌肿瘤",["子宫体高分化神经内分泌肿瘤"]],[213741,"弃用：子宫体腺样囊性癌",["子宫内膜腺样囊性癌"]],[213746,"子宫体移行细胞癌",["子宫内膜移行细胞癌"]],[213751,"子宫体恶性生殖细胞肿瘤",["子宫体生殖细胞癌"]],[213761,"罕见子宫颈癌",["罕见子宫颈恶性肿瘤"]],[213767,"子宫颈鳞状细胞癌",["宫颈鳞状细胞癌"]],[213772,"子宫颈腺癌",["宫颈腺癌"]],[213777,"子宫颈高度神经内分泌癌",["子宫颈低分化神经内分泌癌"]],[213782,"子宫颈恶性混合性上皮间充质肿瘤",["宫颈恶性上皮间充质肿瘤"]],[213787,"子宫颈癌肉瘤",["子宫颈恶性苗勒管混合性肿瘤"]],[213792,"子宫颈腺肉瘤",["宫颈腺肉瘤"]],[213797,"子宫颈肉瘤",["子宫颈恶性间充质肿瘤"]],[213802,"子宫颈横纹肌肉瘤",["宫颈横纹肌肉瘤"]],[213807,"子宫颈平滑肌肉瘤",["宫颈平滑肌肉瘤"]],[213812,"子宫颈原始神经外胚层肿瘤",["子宫颈恶性外周神经外胚层癌"]],[213817,"子宫颈乳头状癌",["宫颈乳头状癌"]],[213823,"子宫颈腺样囊性癌",["宫颈腺样囊性癌"]],[213828,"子宫颈腺样基底癌",["宫颈腺样基底癌"]],[213833,"子宫颈玻璃状细胞癌"],[213837,"子宫颈恶性生殖细胞肿瘤",["子宫颈生殖细胞癌"]],[216445,"语前非综合征性遗传性耳聋",["语前非综合征性遗传性听力损失"]],[216452,"语后非综合征性遗传性耳聋",["语后非综合征性遗传性听力损失"]],[216675,"大动脉转位",["大血管转位"]],[216694,"先天矫正型大动脉转位",["心室动脉与房室连接不一致"]],[216718,"孤立性先天未矫正型大动脉转位",["孤立性先天性未矫正型大血管转位"]],[216729,"先天未矫正型大动脉转位伴心脏畸形",["TGA伴心脏畸形"]],[216796,"成骨不全症1型",["非变形性成骨不全"]],[216804,"成骨不全症2型",["致死性成骨不全"]],[216812,"成骨不全症3型",["进行性变形性成骨不全"]],[216820,"成骨不全症4型",["4型OI"]],[216828,"成骨不全症5型",["5型OI"]],[216866,"经典泛酸激酶相关神经变性",["经典型神经退行性疾病伴脑铁蓄积1型"]],[216873,"非典型泛酸激酶相关神经变性",["非典型神经变性疾病伴脑铁积聚1型"]],[216972,"严重围产期型尼曼-皮克病C型"],[216975,"重度神经系统起病的婴儿早期尼曼-皮克病C型"],[216978,"神经系统起病的婴儿晚期尼曼-皮克病C型"],[216981,"神经系统起病的青少年期尼曼-皮克病C型",["典型尼曼-皮克病C型"]],[216986,"神经系统起病的成人期尼曼-皮克病C型"],[216989,"Pasini型常染色体显性遗传营养不良大疱性表皮松解",["Pasini型DDEB"]],[217008,"Bockenheimer综合征",["真性弥漫性静脉曲张"]],[217012,"脊髓小脑共济失调31型",["SCA31"]],[217017,"Zechi-Ceide综合征",["枕部闭锁性脑膨出-面部异常-大脚畸形综合征"]],[217023,"弃用：非典型溶血性尿毒症综合征伴血栓调节蛋白异常",["溶血性尿毒症综合征不伴肠炎伴血栓调节蛋白异常"]],[217026,"Hadziselimovic型小头-面-心-骨骼综合征",["小头-面-心-骨骼综合征"]],[217031,"欧洲非罕见：MC3R基因缺陷所致肥胖"],[217034,"减数分裂缺陷所致男性不育伴正常男性化",["减数分裂停止所致男性不育伴正常男性化"]],[217046,"弃用:常染色体隐性遗传儿童期起病的皮质性白内障"],[217049,"弃用: 罕见非综合征性白内障"],[217052,"弃用: 婴幼儿非综合征性白内障"],[217055,"常染色体隐性遗传中间型夏科-马里-图斯病6型",["RI-CMT A型"]],[217059,"孤立性先天性杵状指",["孤立性先天性杵状指"]],[217064,"5-氟尿嘧啶中毒",["5-氟尿嘧啶中毒"]],[217067,"隐窝炎"],[217071,"肾细胞癌",["RCC"]],[217074,"罕见胰腺癌",["罕见胰腺癌"]],[217080,"高危患者的肺部真菌感染"],[217085,"重型黏多糖贮积症II型",["重型黏多糖贮积症II型"]],[217093,"轻型黏多糖贮积症II型",["轻型黏多糖贮积症II型"]],[217253,"边缘脑炎伴NMDA受体抗体",["边缘脑炎伴N-甲基-D-天冬氨酸受体抗体"]],[217260,"进行性多病灶脑白质病",["进行性多病灶脑白质病"]],[217266,"二裂鼻伴或不伴肛门直肠和肾异常综合征",["二裂鼻伴或不伴肛门直肠和肾异常综合征"]],[217315,"回状颅皮-视网膜色素变性-感音神经性耳聋综合征",["回状颅皮-视网膜色素变性-感音神经性耳聋综合征"]],[217330,"REN基因相关的常染色体显性遗传肾小管间质性肾病",["REN基因相关的家族性青少年高尿酸血症肾病2型"]],[217335,"RIN2基因综合征",["高额头-头发稀疏-皮肤松弛-脊柱侧凸综合征"]],[217340,"17q21.31微重复综合征",["17q21.31三体"]],[217346,"19q13.11微缺失综合征",["19q13.11单体"]],[217371,"mtDNA编码蛋白合成缺陷所致急性婴儿肝功能衰竭",["线粒体DNA编码蛋白合成缺陷所致急性婴儿肝功能衰竭"]],[217377,"Xp11.22p11.23微重复综合征",["Xp11.22p11.23三体"]],[217382,"脑叶酸转运缺陷所致神经退行性综合征"],[217385,"17p13.3微重复综合征",["17p13.3重复综合征"]],[217390,"DOCK8基因缺陷所致联合免疫缺陷",["胞质分裂作用蛋白8缺陷所致联合免疫缺陷"]],[217396,"进行性多发性神经病伴双边纹状体坏死"],[217399,"先天性痛觉不敏感伴多汗症",["先天性痛觉不敏感伴多汗症"]],[217407,"遗传性稀毛症伴复发性皮肤水疱"],[217410,"弃用：局限性淋巴管畸形",["局限性淋巴管瘤"]],[217454,"罕见遗传性血栓形成"],[217467,"先天性富组氨酸糖蛋白缺陷所致遗传性血栓形成",["先天性HRG缺陷所致遗传性血栓形成"]],[217557,"肺间质糖原病",["婴儿细胞间质性肺炎"]],[217560,"婴儿神经内分泌细胞增生",["NCHI","NEHI"]],[217563,"SP-B缺陷所致新生儿急性呼吸窘迫",["表面活化蛋白B缺陷所致新生儿急性呼吸窘迫"]],[217566,"慢性呼吸窘迫伴表面活性物质代谢缺陷"],[217569,"肥厚型心肌病"],[217572,"糖原贮积病伴肥厚型心肌病",["糖原贮积症伴肥厚型心肌病"]],[217581,"溶酶体病伴肥厚型心肌病"],[217587,"线粒体疾病伴肥厚型心肌病"],[217591,"脂肪酸氧化和生酮障碍伴肥厚型心肌病"],[217595,"肥厚型心肌病相关综合征"],[217598,"非家族性肥厚型心肌病"],[217601,"强化运动训练所致肥厚型心肌病"],[217604,"扩张型心肌病"],[217607,"家族性扩张型心肌病"],[217610,"神经肌肉疾病伴扩张型心肌病"],[217613,"线粒体疾病伴扩张型心肌病"],[217616,"脂肪酸氧化和生酮障碍伴扩张型心肌病"],[217619,"扩张型心肌病相关综合征"],[217622,"感音神经性聋伴扩张型心肌病",["感音神经性聋伴扩张型心肌病"]],[217629,"非家族性扩张型心肌病"],[217632,"限制型心肌病"],[217635,"家族性限制型心肌病"],[217638,"溶酶体病伴限制型心肌病"],[217656,"家族性孤立性心律失常性右心室发育不良",["家族性孤立性心律失常性右室心肌病"]],[217678,"未分类心肌病"],[217720,"非家族性限制性心肌病"],[218432,"弃用：家族性限制性心肌病3型",["限制性心肌病3型"]],[218436,"罕见心律失常"],[218439,"非遗传性心律失常"],[220295,"着色性干皮病-Cockayne综合征",["着色性干皮病/Cockayne综合征"]],[220386,"前脑无裂畸形"],[220393,"弥漫性皮肤系统性硬化",["皮进行性肤系统性硬皮病"]],[220402,"局限性皮肤系统性硬化",["局限性皮肤系统性硬皮症"]],[220407,"局限性系统性硬化病",["系统性硬化病"]],[220436,"Quebec血小板疾病",["Quebec凝血因子V"]],[220443,"血栓烷合成缺陷所致出血素质"],[220448,"巨血小板减少症伴二尖瓣关闭不全"],[220452,"孤立性遗传性巨血小板疾病",["孤立性遗传性巨血小板疾病"]],[220460,"家族性腺瘤性息肉病轻型",["轻型家族性结肠息肉病"]],[220465,"Laron综合征伴免疫缺陷",["STAT5b基因缺陷所致身材矮小"]],[220489,"罕见遗传性血色病",["铁超负荷病"]],[220493,"Joubert综合征伴眼缺陷",["Joubert综合征伴视网膜病"]],[220497,"Joubert综合征伴肾缺陷",["JS-R"]],[221008,"Rothmund-Thomson综合征1型",["Rothmund-Thomson综合征1型皮肤异色症"]],[221016,"Rothmund-Thomson综合征2型",["Rothmund-Thomson综合征2型皮肤异色症"]],[221039,"Weary 型遗传性硬化性皮肤异色病"],[221043,"遗传性纤维化皮肤异色病-肌腱挛缩-肌病-肺纤维化综合征",["皮肤异色病-肌腱挛缩-肌病-肺纤维化综合征"]],[221046,"皮肤异色症伴中性粒细胞减少",["Clericuzio型皮肤异色症伴中性粒细胞减少"]],[221054,"尖头多指（趾）畸形",["尖头多指（趾）畸形"]],[221061,"家族性大脑海绵状畸形",["家族性大脑海绵状畸形"]],[221074,"Marchiafava-Bignami病",["MBD"]],[221078,"联合颅神经多动障碍综合征"],[221083,"偏侧面肌痉挛",["偏侧面肌痉挛"]],[221091,"三叉神经痛"],[221098,"舌咽神经痛"],[221106,"孤立性面肌纤维颤搐"],[221109,"脑神经痛",["面神经痛"]],[221114,"获得性外周运动障碍"],[221117,"格斯特曼综合征"],[221120,"伪氨基蝶呤综合症",["氨基蝶呤综合症样氨基喋呤"]],[221126,"Fowler血管病",["增生性血管病和脑积水/脑发育不全性脑积水"]],[221139,"联合免疫缺陷伴面-眼-骨骼异常",["Roifman-Chitayat综合征"]],[221142,"彩色纸屑样斑状萎缩"],[221145,"皮肤松弛症伴严重的肺、胃肠和泌尿系统异常",["常染色体隐性遗传性皮肤松弛症1C型"]],[221150,"皮特-霍普金斯样综合征"],[222628,"遗传性皮肤异色病"],[223713,"线粒体氧化磷酸化障碍",["氧化磷酸化障碍"]],[223727,"骨肉瘤"],[223735,"淋巴瘤"],[225123,"血色素沉着症3型",["TFR2基因相关血色素沉着症"]],[225147,"散发性婴幼儿双侧纹状体坏死",["散发性婴幼儿黑质纹状体退化"]],[225154,"家族性婴幼儿双侧纹状体坏死",["家族性婴幼儿黑质纹状体坏死"]],[225681,"溶酶体病伴癫痫"],[225686,"过氧化物酶体病伴癫痫"],[225689,"氨基酸或蛋白质代谢疾病伴癫痫"],[225692,"金属转运或利用障碍伴癫痫"],[225696,"能量代谢障碍伴癫痫"],[225700,"线粒体疾病伴癫痫"],[225703,"线粒体疾病伴周围神经病变"],[225707,"代谢神经传递异常伴癫痫"],[225710,"固醇代谢障碍伴癫痫"],[225713,"其他代谢疾病伴癫痫"],[225968,"弃用：遗传性易换原发性血小板增多症易感",["家族性原发性血小板增多症"]],[226292,"永久性先天性甲状腺功能减退症"],[226295,"原发性先天性甲状腺功能减退症"],[226298,"中枢性先天性甲状腺功能减退症",["继发性甲状腺功能减退症"]],[226307,"垂体发育或功能相关的转录因子缺陷所致甲状腺功能减退症"],[226310,"外周甲状腺机能减退症"],[226313,"母亲服用抗甲状腺药物所致先天性甲状腺功能减退症"],[226316,"遗传性短暂性先天性甲状腺功能减退症"],[227510,"多系统萎缩，小脑型",["散发性橄榄-桥脑-小脑萎缩1型"]],[227535,"遗传性乳腺癌",["遗传性乳腺癌"]],[227786,"弃用：家族性斑点性视网膜病变",["家族性斑点性视网膜病变"]],[227796,"白点状眼底"],[227972,"油毒综合征"],[227976,"常染色体隐性遗传视神经萎缩OPA7型"],[227982,"自身免疫性多内分泌病3型",["自身免疫性多腺体综合征3型"]],[227990,"自身免疫性多内分泌病4型",["自身免疫性多腺体综合征4型"]],[228000,"特发性CD4淋巴细胞减少症"],[228003,"CORO1A基因缺陷所致重症联合免疫缺陷",["冠蛋白1A缺陷所致重症联合免疫缺陷"]],[228012,"进行性感音神经性听觉丧失-肥厚型心肌病综合征",["进行性感音神经性听觉丧失-肥厚型心肌病综合征"]],[228113,"肛瘘"],[228116,"Hughes-Stovin综合征"],[228119,"镰刀菌病",["镰刀菌感染"]],[228123,"球孢子菌病",["球孢子菌感染"]],[228140,"非 Brugada型特发性心室颤动",["非 Brugada型家族性阵发性心室纤维性颤动"]],[228145,"多发性硬化变体"],[228157,"Marburg急性多发性硬化",["Marburg变体型急性多发性硬化"]],[228165,"同心圆性硬化",["同心圆性脱髓鞘"]],[228169,"常染色体显性遗传纹状体神经变性",["ADSD"]],[228174,"常染色体显性遗传夏科-马里-图斯病2N型",["CMT2N"]],[228179,"常染色体显性遗传夏科-马里-图斯病2M型",["CMT2M"]],[228184,"心-手综合征",["手指发育不良"]],[228190,"动脉导管未闭-二尖瓣主动脉瓣-手异常综合征",["动脉导管未闭-二尖瓣主动脉瓣-手异常综合征"]],[228215,"遗传性真皮弹性组织疾病"],[228218,"获得性真皮弹性组织疾病"],[228221,"获得性真皮弹性组织疾病伴弹性组织减少"],[228224,"获得性真皮弹性组织疾病伴弹性组织增加"],[228227,"迟发性局灶性皮肤弹性组织变性",["假黄瘤样迟发性局灶性皮肤弹性组织变性"]],[228236,"线性局灶性弹性组织变性",["线性局灶性真皮弹性组织变性"]],[228240,"真皮弹性蛋白累积症"],[228243,"背部弹力蛋白纤维瘤"],[228247,"获得性弹性假黄瘤",["获得性Gronblad-Strandberg-Touraine综合征"]],[228254,"弹性组织瘤",["青少年弹性瘤不伴脆弱性骨硬化"]],[228264,"丘疹性弹性组织破裂"],[228272,"原发性皮肤松垂",["原发性斑状萎缩"]],[228277,"家族性皮肤松垂",["遗传性斑状萎缩"]],[228285,"获得性皮肤松弛",["获得性皮肤松弛"]],[228290,"颈部白色纤维性丘疹"],[228293,"弹性假黄瘤样乳头状皮肤弹性蛋白离解",["弹性假黄瘤样乳头状皮肤弹性蛋白离解"]],[228299,"皮肤中度弹性组织离解"],[228302,"肌病型肉碱棕榈酰转移酶II缺乏症",["成人起病型肉碱棕榈酰转移酶缺乏症2型"]],[228305,"重症婴儿型肉碱棕榈酰转移酶II缺乏症",["肝-心肌型CPTII"]],[228308,"新生儿型肉碱棕榈酰转移酶II缺乏症",["致死性系统性肉碱棕榈酰转移酶缺乏症2型"]],[228312,"自身免疫性溶血性贫血冷型",["AIHA冷型"]],[228315,"弃用：特发性睡眠增多症伴长睡眠时间"],[228318,"弃用：特发性睡眠增多症不伴长睡眠时间"],[228329,"神经元蜡样脂褐质沉积症1型"],[228337,"神经元蜡样脂褐质沉积症10型",["组织蛋白酶缺乏症"]],[228340,"神经元蜡样脂褐质沉积症4A型"],[228343,"神经元蜡样脂褐质沉积症4B型"],[228346,"神经元蜡样脂褐质沉积症3型",["典型青少年神经元蜡样脂褐质沉积症"]],[228349,"神经元蜡样脂褐质沉积症2型",["典型婴儿晚期神经元蜡样脂褐质沉积症"]],[228354,"神经元蜡样脂褐质沉积症8型"],[228357,"神经元蜡样脂褐质沉积症9型"],[228360,"神经元蜡样脂褐质沉积症5型"],[228363,"神经元蜡样脂褐质沉积症6型"],[228366,"神经元蜡样脂褐质沉积症7型"],[228371,"食源性肉毒中毒",["肉毒中毒"]],[228374,"Charcot-Marie-Tooth病2B5型",["神经丝轻链蛋白亚基缺陷所致重度早发性轴突性神经病"]],[228379,"病毒相关性棘状毛发育不良",["环孢菌素诱发毛囊营养不良"]],[228384,"5q14.3微缺失综合征",["5q14.3单体"]],[228387,"脊柱-骨骺-干骺端发育不全"],[228390,"额鼻发育不良-脱发-生殖器异常综合征",["额鼻发育不良伴脱发和性腺功能减退症"]],[228396,"上睑下垂-上眼运动受限-泪点缺乏综合征"],[228399,"8q12微重复综合征",["8q12三体"]],[228402,"2q23.1微缺失综合征",["伪Angelman综合征"]],[228407,"颅面畸形-骨骼异常-智力障碍综合征",["TMCO1基因缺陷综合征"]],[228410,"多瓣膜性心脏病综合征",["PHD综合征"]],[228415,"5q35微重复综合征",["5q35三体"]],[228418,"弃用：小头-惊厥-发育迟缓综合征",["小头畸形伴癫痫"]],[228423,"单核细胞减少症伴传染易感",["免疫缺陷伴分枝杆菌、病毒、真菌感染易感性"]],[228426,"ITCH基因缺陷所致综合征性多系统自身免疫病"],[228429,"先天性全身性脂肪营养不良伴肌病",["先天性全身性脂肪营养不良4型"]],[229717,"孤立性无丙种球蛋白血症",["孤立性低丙种球蛋白血症"]],[229720,"综合征性无丙种球蛋白血症"],[230800,"毒素介导的传染性肉毒中毒",["毒素介导的传染性肉毒中毒"]],[230839,"经典样埃勒斯-当洛斯综合征1型",["固生蛋白X缺乏所致埃勒斯-当洛斯综合征"]],[230845,"血管样经典埃勒斯-当洛斯综合征",["COL1A1 基因p.(Arg312Cys)所致经典埃勒斯-当洛斯综合征"]],[230851,"心脏瓣膜埃勒斯-当洛斯综合征",["心脏瓣膜EDS"]],[230857,"埃勒斯-当洛斯/成骨不全综合征",["EDS/OI 综合征"]],[231013,"先天性三叉神经麻痹"],[231031,"遗传性掌红斑",["红掌病"]],[231040,"家族性泛发性雀斑样痣病",["家族性泛发性雀斑样痣综合征不伴全身累及"]],[231080,"患者高度发育异常伴巴雷特食管"],[231108,"家族性横纹肌样肿瘤",["横纹肌样瘤易感综合征"]],[231111,"药物诱发红斑狼疮",["DILE"]],[231117,"11p15印迹缺陷所致Beckwith-Wiedemann综合征"],[231120,"CDKN1C基因突变所致Beckwith-Wiedemann综合征"],[231127,"11p15微缺失所致Beckwith-Wiedemann综合征"],[231130,"11p15易位/倒位所致Beckwith-Wiedemann综合征"],[231137,"7p11.2p13微重复所致Silver-Russell综合征",["7p11.2p-13微重复所致Silver-Russell综合征"]],[231140,"11p15印迹缺陷所致Silver-Russell综合征"],[231144,"11p15微重复所致Silver-Russell综合征"],[231147,"母源11号染色体单亲二倍体所致Silver-Russell综合征",["母源性UPD(11)"]],[231154,"部分RAG1基因缺陷所致联合免疫缺陷",["γδT细胞增生所致联合免疫缺陷"]],[231160,"家族性大脑囊状动脉瘤",["家族性颅内囊状动脉瘤"]],[231169,"Usher综合征1型",["USH1"]],[231178,"Usher综合征2型",["USH2"]],[231183,"Usher综合征3型",["USH3"]],[231205,"弃用：普通可变性免疫缺陷不伴已知基因缺陷"],[231214,"β-地中海贫血重型",["地中海贫血"]],[231222,"β-地中海贫血中间型"],[231226,"显性β-地中海贫血",["包涵体β-地中海贫血"]],[231230,"与另一种血红蛋白异常相关的β-地中海贫血",["与另一种血红蛋白异常相关的β-地中海贫血"]],[231237,"δ-β-地中海贫血"],[231242,"血红蛋白C-β-地中海贫血综合征",["血红蛋白C-β-地中海贫血综合征"]],[231249,"血红蛋白E-β-地中海贫血综合征",["血红蛋白E-β-地中海贫血综合征"]],[231256,"β-地中海贫血-毛发低硫营养不良综合征"],[231386,"β-地中海贫血伴其他症状"],[231393,"β-地中海贫血-X连锁血小板减少综合征",["X连锁血小板减少综合征"]],[231401,"α-地中海贫血-骨髓增生异常综合征",["获得性血红蛋白H病"]],[231413,"吉兰-巴雷综合征变体",["GBS变体"]],[231416,"吉兰-巴雷综合征局部变体",["GBS局部变体"]],[231419,"吉兰-巴雷综合征功能性变体",["GBS功能性变体"]],[231426,"吉兰-巴雷综合征咽-颈-臂变体",["吉兰-巴雷综合征咽-颈-臂变体"]],[231445,"吉兰-巴雷综合征下身轻瘫变体",["GBS下身轻瘫变体"]],[231450,"急性纯感觉神经病",["急性纯感觉性吉兰-巴雷综合征"]],[231457,"急性全植物神经失调症",["急性全植物神经性吉兰-巴雷综合征"]],[231466,"急性感觉共济失调性神经病",["急性感觉共济失调性吉兰-巴雷综合征"]],[231500,"赫曼斯基-普德拉克综合征伴肺纤维化",["HPS伴肺纤维化"]],[231512,"赫曼斯基-普德拉克综合征不伴肺纤维化",["HPS不伴肺纤维化"]],[231531,"赫曼斯基-普德拉克综合征7型",["HPS7"]],[231537,"赫曼斯基-普德拉克综合征8型",["HPS8"]],[231556,"迟发性局限性交界型大疱性表皮松解症-智力障碍综合征",["Late-onset localized JEB-intellectual disability syndrome"]],[231568,"全身性显性大疱性营养不良型表皮松解症",["Pasini 和 Cockayne-Tourain型常染色体显性营养不良型大疱性表皮松解症"]],[231573,"先天性糜烂和水疱性皮肤病",["先天性糜烂和水疱性皮肤病伴网状柔软瘢痕"]],[231580,"原发性单侧肾上腺过度增生",["PUAH"]],[231625,"肾上腺皮质癌伴单纯醛固酮分泌过多",["单纯性醛固酮分泌过多性肾上腺皮质癌"]],[231632,"异位醛固酮肿瘤",["肾上腺外醛固酮肿瘤"]],[231637,"罕见手术可纠正型原发性醛固酮症"],[231641,"罕见非手术可纠正型原发性醛固酮症"],[231662,"孤立性生长激素缺乏症IA型",["先天性孤立性生长激素缺乏症IA型"]],[231671,"孤立性生长激素缺乏症IB型",["先天性孤立性生长激素缺乏症IB型"]],[231679,"孤立性生长激素缺乏症II型",["先天性孤立性生长激素缺乏症II型"]],[231692,"孤立性生长激素缺乏症III型",["先天性孤立性生长激素缺乏症III型"]],[231720,"非获得性联合垂体激素缺陷-感音神经性听觉丧失-脊柱异常综合征",["非获得性联合垂体激素缺陷-耳聋-颈椎僵硬综合征"]],[231736,"小角膜-后巨大圆锥晶状体-持续性胎儿血管-眼缺损综合征",["MPPC综合征"]],[231742,"眼球脂质皮样囊肿-耳前附件-多乳头综合征"],[232035,"传染性胚胎胎儿病"],[232288,"α-地中海贫血相关疾病"],[233655,"罕见遗传性血管疾病"],[235832,"先天性血管骨综合征"],[235835,"弃用：先天性血管骨综合征伴肢体过度生长"],[235838,"弃用：先天性血管骨综合征伴肢体缩短"],[235936,"家族性醛固酮增多症",["FH"]],[238269,"AApoAII淀粉样变性",["载脂蛋白AII淀粉样变性所致遗传性肾淀粉样变性"]],[238305,"漏斗神经下垂体炎"],[238329,"重症X连锁线粒体脑肌病",["联合氧化磷酸化缺陷6型所致重症X连锁线粒体脑肌病"]],[238446,"15q11q13微重复综合征",["15q11q13重复综合征"]],[238455,"婴儿肌张力障碍-帕金森病",["帕金森病-张力障碍综合征"]],[238459,"SLC35A1基因型先天性糖基化障碍",["碳水化合物缺乏性糖蛋白综合征IIF型"]],[238468,"少汗性外胚层发育不良",["无汗性外胚层发育不良"]],[238475,"家族性高胆烷血症",["遗传性高胆烷血症"]],[238505,"CD27基因缺陷所致联合免疫缺陷",["CD27缺乏所致常染色体隐性遗传性淋巴组织增生性疾病"]],[238510,"淋巴细胞增生综合征"],[238517,"低张力性胱氨酸尿1型综合征"],[238523,"非典型肌张力低下-胱氨酸尿症综合征",["非典型HCS"]],[238536,"先天性继发性红细胞增多症",["先天性继发性红细胞增多症"]],[238547,"获得性继发性红细胞增多症",["获得性继发性红细胞增多症"]],[238557,"楚瓦什红细胞增多症",["希佩尔林道依赖性红细胞增多症"]],[238569,"免疫失调性-炎症性肠病-关节炎-反复感染综合征",["IL-11相关早发性炎症性肠病"]],[238578,"染色体17q23.1q23.2微重复所致家族性畸形足",["染色体17q23.1-q23.2微重复所致家族性畸形足"]],[238583,"四氢生物蝶呤缺乏性高苯丙氨酸血症",["四氢生物蝶呤缺乏所致高苯丙氨酸血症"]],[238593,"IgG4相关性肠系膜炎",["孤立性肠系膜脂肪代谢障碍"]],[238606,"原发性直立性震颤",["POT"]],[238613,"NSD1基因突变性贝-威综合征"],[238616,"欧洲非罕见：阿尔兹海默症"],[238621,"回肠储袋肛管吻合术相关大便失禁"],[238624,"自发性颅内高压",["良性颅内高压"]],[238637,"巨膀胱-巨输尿管综合征",["巨输尿管-巨膀胱综合征"]],[238642,"成人原发性巨输尿管"],[238646,"阻塞性先天性原发性巨输尿管"],[238650,"回流性先天性原发性巨输尿管"],[238654,"无回流无阻塞性先天性原发性巨输尿管"],[238666,"孤立性先天性低促性腺素性功能减退症",["Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"]],[238670,"孤立性促甲状腺激素释放激素缺乏症",["孤立性促甲状腺激素释放激素缺乏症"]],[238688,"新生儿碘暴露"],[238691,"弃用：先天性肝血管瘤",["先天性肝血管瘤"]],[238696,"妊娠期因素所致短暂性先天性甲状腺功能减退"],[238699,"新生儿因素所致短暂性先天性甲状腺功能减退"],[238722,"家族性先天性镜像运动",["遗传性先天性控制侧联带运动"]],[238744,"乳房-手指-指甲综合征",["指甲-手指-乳房综合征"]],[238750,"染色体4q21微缺失综合征",["4q21单体"]],[238755,"常染色体显性肢肌营养不良1H型",["肢带肌营养不良1H型"]],[238763,"球形晶状体/晶状体异位及巨角膜继发性青光眼",["巨角膜-球形晶状体-继发性青光眼综合征"]],[238766,"上睑下垂-并指（趾）-学习障碍综合征"],[238769,"染色体1q44微缺失综合征",["1q44单体"]],[240071,"经典进行性核上性麻痹综合征",["Steele-Richardson-Olszewski病"]],[240085,"进行性核上性麻痹-帕金森综合征",["进行性核上性麻痹-帕金森综合征"]],[240094,"进行性核上性麻痹-完全运动不能伴冻结步态",["PSP-完全运动不能伴冻结步态"]],[240103,"进行性核上性麻痹-皮质基底节综合征",["PSP-皮质基底节综合征"]],[240112,"进行性核上性麻痹-非进行性流畅性失语综合征",["进行性核上性麻痹-言语失用症综合征"]],[240266,"弃用：系统性非朗格汉斯细胞增生症"],[240371,"综合征性肥胖"],[240760,"奈梅亨断裂综合征样障碍",["小头畸形和染色体不稳定不伴免疫缺陷"]],[243343,"二甲基脱氢酶缺乏症",["二甲基脱氢酶缺乏症"]],[243367,"妊娠期急性脂肪肝",["AFLP"]],[243377,"欧洲非罕见：I型糖尿病",["胰岛素依赖型糖尿病"]],[243761,"欧洲非罕见：原发性高血压"],[244242,"HELLP综合征",["妊娠期溶血、肝酶升高、血小板减少"]],[244275,"肾移植后新发血栓性微血管病"],[244283,"胆道闭锁伴脾畸形综合征",["BASM综合征"]],[244305,"低磷酸盐血症为主伴肾结石或骨质疏松症"],[244310,"RFG1基因型先天性糖基化障碍",["碳水化合物缺乏性糖蛋白综合征ln型"]],[247165,"小儿铅中毒",["小儿贡中毒"]],[247198,"进行性小脑萎缩",["PCCA"]],[247203,"集合管癌",["Bellini管癌"]],[247234,"病因不明散发性成人共济失调",["孤立性晚发性小脑共济失调"]],[247239,"非遗传性退行性共济失调"],[247242,"获得性共济失调"],[247245,"浅表肺沉着病",["中枢神经系统浅表含铁血黄素沉着症"]],[247257,"吸入性炭疽病",["吸入性炭疽病"]],[247262,"高磷酸酯酶智力残疾综合征",["马布里综合症"]],[247353,"全身性疱疹性银屑病",["GPP"]],[247378,"VHL基因无关性常染色体隐性遗传性继发性红细胞增多症",["VHL基因无关性常染色体隐性遗传性继发性红细胞增多症"]],[247511,"常染色体显性遗传性继发性红细胞增多症",["常染色体显性遗传性继发性红细胞增多症"]],[247522,"原发性纤毛运动障碍-色素视网膜炎综合征"],[247525,"瓜氨酸血症I型",["精氨酸代琥珀酸合成酶缺乏症"]],[247546,"急性新生儿瓜氨酸血症I型",["急性新生儿瓜氨酸血症1型"]],[247573,"成人起病瓜氨酸血症I型",["成人起病瓜氨酸血症1型"]],[247582,"柠檬酸缺乏症"],[247585,"瓜氨酸血症II型",["成人起病瓜氨酸血症II型"]],[247598,"柠檬酸缺乏所致新生儿肝内胆汁淤积症",["柠檬素缺乏所致新生儿肝内胆汁淤积症"]],[247604,"少年型原发性侧索硬化症",["少年型PLS"]],[247623,"围产期致命性低磷酸酯酶症",["围产期致命性低磷酸酯酶症"]],[247638,"围产期良性低磷酸酯酶症",["围产期良性低磷酸酯酶症"]],[247651,"婴儿型低磷酸酯酶症",["小儿低磷酸酯酶症"]],[247667,"儿童起病低磷酸酯酶症",["儿童起病低磷酸酯酶症"]],[247676,"成人型低磷酸酯酶症",["成人低磷酸酯酶症"]],[247685,"牙齿型低磷酸酯酶症"],[247691,"视网膜血管病变伴脑白质营养不良和全身表现",["视网膜血管病变伴脑白质病变"]],[247698,"多发性内分泌肿瘤2A型",["Sipple综合征"]],[247709,"多发性内分泌肿瘤2B型",["多发性内分泌肿瘤3型"]],[247718,"炎症型肌病伴大量巨噬细胞",["IMAM"]],[247724,"特发性嗜酸性肌炎",["特发性嗜酸性肌病"]],[247762,"成脂细胞瘤"],[247765,"x连锁遗传小脑性共济失调"],[247768,"苗勒管发育不全和雄激素增多症",["苗勒管发育不全和雄激素增多症"]],[247775,"Mayer-Rokitansky-K³ster-Hauser综合征1型",["先天性无子宫阴道"]],[247790,"FTH1基因相关铁超负荷",["FTH1基因相关铁超超载"]],[247794,"青少年性白内障合并小角膜-肾性糖尿综合征",["青少年性白内障合并小角膜-肾性糖尿综合征"]],[247798,"MUTYH基因相关轻型家族性腺瘤性息肉病",["MUTYH基因相关轻型家族性息肉病"]],[247806,"APC基因相关轻型家族性腺瘤性息肉病",["APC基因相关轻型家族性息肉病"]],[247815,"PEX10基因缺乏所致常染色体隐性遗传性共济失调",["PEX10基因缺乏所致轻型过氧化物酶病"]],[247820,"外胚层发育不良伴并指综合症",["EDSS1"]],[247827,"外胚层发育不良伴皮肤并指综合症",["EDSS2"]],[247834,"隐匿性黄斑营养不良",["OCMD","OMD"]],[247839,"少关节性幼年特发性关节炎伴抗核抗体阳性",["少关节性幼年特发性关节炎伴抗核抗体阳性"]],[247846,"少关节性幼年特发性关节炎伴抗核抗体阴性",["少关节性幼年特发性关节炎伴抗核抗体阴性"]],[247854,"类风湿因子阴性幼儿特发性关节炎伴抗核抗体阳性",["类风湿因子阴性幼年多发性关节炎伴抗核抗体阳性"]],[247861,"类风湿因子阴性幼儿特发性关节炎伴抗核抗体阴性",["类风湿因子阴性幼年多发性关节炎伴抗核抗体阴性"]],[247868,"NLRP12基因相关遗传性周期性发热综合征",["家族性寒冷性自身炎症综合征2型"]],[247871,"弃用：白癜风相关的自身免疫性疾病"],[248095,"原发性肥厚性骨关节病",["特发性肥厚性骨关节病"]],[248111,"青少年亨廷顿舞蹈病",["青少年亨廷顿舞蹈症"]],[248293,"罕见性营养缺乏性贫血"],[248296,"先天性营养缺乏性贫血"],[248302,"罕见性获得性营养缺乏性贫血"],[248305,"弃用：3-磷酸甘油醛脱氢酶缺乏所致溶血性贫血"],[248308,"罕见性出血性疾病",["罕见性出血性疾病"]],[248315,"凝血因子缺陷所致罕见性出血性疾病",["凝血因子缺陷所致罕见性出血障碍"]],[248326,"血小板异常所致罕见性出血性疾病",["血小板病和/或血小板减少所致罕见性出血性障碍"]],[248340,"孤立性δ-储存池病",["孤立性δ-储存池病"]],[248347,"获得性血小板异常所致罕见性出血性疾病",["获得性血小板病和/或血小板减少所致罕见性出血性障碍"]],[248358,"凝血因子缺陷所致罕见性血栓性疾病"],[248361,"先天性凝血因子缺陷导致的罕见血栓性疾病"],[248365,"获得性凝血因子缺陷所致罕见性血栓性疾病"],[248368,"血小板异常所致罕见性血栓性疾病"],[248401,"先天性血小板异常所致罕见性血栓性疾病"],[248404,"获得性血小板异常所致罕见性血栓性疾病"],[248408,"家族性低纤维蛋白原血症"],[250165,"遗传性红细胞增多症"],[250805,"丝氨酸蛋白酶抑制剂病变"],[250808,"丝氨酸蛋白酶抑制剂病变伴毒性丝氨酸蛋白酶抑制剂聚集"],[250811,"丝氨酸蛋白酶抑制剂病变伴丝氨酸蛋白酶抑制剂功能障碍"],[250831,"非流利性进行性失语",["Logopenic型原发性进行性失语"]],[250908,"罕见性肿瘤病",["罕见性肿瘤病"]],[250923,"孤立性无虹膜畸形"],[250932,"常染色体显性遗传性视神经萎缩与周围神经病变"],[250972,"多小脑回伴视神经发育不全性"],[250977,"4-氨基咪唑-5-羧酰胺核糖尿",["4-氨基咪唑-5-羧酰胺核糖尿"]],[250984,"常染色体隐性遗传性斯蒂克勒综合征"],[250989,"染色体1q21.1微缺失综合征",["1q21.1单体"]],[250994,"染色体1q21.1微重复综合征",["1q21.1三体"]],[250999,"染色体1q41q42微缺失综合征",["1q41q42单体"]],[251004,"父源1号染色体单亲二体",["父源1号染色体单亲二倍体"]],[251009,"母源1号染色体单亲二体",["母源1号染色体单亲二倍体"]],[251014,"染色体2q31.1微缺失综合征",["2q31.1单体"]],[251019,"染色体2q32q33微缺失综合征",["2q32q33单体"]],[251028,"染色体重排所致SATB2蛋白相关综合征",["2q33.1微缺失综合征"]],[251038,"染色体3q29微重复综合征",["3q29三体"]],[251043,"5号环状染色体综合征",["环状5号染色体"]],[251046,"染色体6p22微缺失综合征",["6p22单体"]],[251056,"染色体6q25微缺失综合征",["6q25单体"]],[251061,"染色体7q31微缺失综合征",["7q31单体"]],[251066,"染色体8p11.2缺失综合征",["8p11.2单体"]],[251071,"染色体8p23.1微缺失综合征",["8p23.1单体"]],[251076,"染色体8p23.1重复综合征",["8p23.1重复"]],[251262,"家族性剥脱性骨软骨炎",["剥脱性骨软骨炎和身材矮小"]],[251274,"III型家族性醛固酮增多症",["3型家族性醛固酮增多症"]],[251279,"小眼症-色素性视网膜炎-黄斑劈裂-视神经盘玻璃疣综合征",["真性小眼球-色素性视网膜炎-黄斑劈裂-视神经盘玻璃疣综合征"]],[251282,"1型痉挛性共济失调",["SPAX1"]],[251287,"良性同心环状黄斑营养不良"],[251290,"顶骨发育不全伴锁骨发育不良",["顶骨孔伴锁骨颅骨发育不良"]],[251295,"色素性视网膜脉络膜静脉旁萎缩",["PPRCA"]],[251304,"婴儿起病脂膜炎伴葡萄膜炎和全身性肉芽肿病"],[251307,"特发性复发性心包炎",["特发性复发性心包炎"]],[251312,"重叠结缔组织病"],[251316,"弃用：未分类的重叠结缔组织病"],[251325,"药物性血管炎"],[251328,"未分类血管炎"],[251332,"原因不明的长期发热/炎症综合征",["原因不明的持续发热/炎症综合征"]],[251347,"毛细血管共济失调性扩张症样紊乱症",["ATLD"]],[251355,"镰状细胞病相关性其他血红蛋白异常",["双杂合子镰状形成病症"]],[251359,"镰状细胞β地中海贫血综合征",["HbS-β地中海贫血综合征"]],[251365,"镰状细胞血红蛋白C病综合征",["HbSC病"]],[251370,"镰状细胞血红蛋白D病综合征",["HbSD病"]],[251375,"镰状细胞血红蛋白E病综合征",["HbSE病"]],[251380,"遗传性持续性胎儿血红蛋白-镰状细胞病综合征",["HPFH-镰状细胞病综合征"]],[251383,"CK综合征",["X连锁智力障碍-小头畸形-皮质畸形-瘦体质综合征"]],[251393,"局限性结合型大疱性表皮松解症，非herlitz型",["JEB-nH loc","Junctional epidermolysis bullosa, non-Herlitz localized type","Localized JEB"]],[251510,"46XY部分性性腺发育不全",["46,XY部分性睾丸发育不全"]],[251515,"远端关节挛缩症10型",["足底屈曲挛缩"]],[251523,"高锌血症和高钙蛋白血症",["PSTPIP1基因相关髓样相关蛋白血症炎症综合征"]],[251529,"毒物或药物相关胚胎胎儿病"],[251535,"母源疾病相关胚胎胎儿病"],[251558,"神经上皮组织罕见性肿瘤"],[251561,"高级星形细胞瘤"],[251576,"神经胶质肉瘤"],[251579,"巨细胞胶质母细胞瘤"],[251582,"大脑神经胶质瘤病"],[251589,"间变性星形细胞瘤"],[251592,"低级星形细胞瘤"],[251595,"弥漫性星形细胞瘤"],[251598,"原浆型星形细胞瘤"],[251601,"纤维性星形细胞瘤"],[251604,"肥胖型星形细胞瘤"],[251607,"多形性黄色星形细胞瘤",["多形性黄色星形细胞瘤"]],[251612,"纤维状细胞性星形细胞瘤"],[251615,"毛细胞粘液样星形细胞瘤"],[251618,"室管膜下巨细胞星形细胞瘤",["SEGA"]],[251623,"垂体细胞瘤"],[251627,"少突胶质细胞瘤"],[251630,"间变性少突胶质细胞瘤"],[251633,"弃用：低级室管膜瘤"],[251636,"室管膜瘤",["经典型室管膜瘤"]],[251639,"室管膜下瘤"],[251643,"黏液乳头状室管膜瘤"],[251646,"间变性室管膜瘤"],[251651,"少突星形细胞瘤",["少突胶质细胞星形细胞混合瘤"]],[251656,"少突星形细胞瘤",["少突星形细胞混合瘤"]],[251663,"间变性少突星形细胞瘤",["aMOA"]],[251668,"来源不明神经上皮组织胶质瘤"],[251671,"血管中心性胶质瘤"],[251674,"脊索样胶质瘤"],[251679,"星形母细胞瘤"],[251852,"神经上皮组织胚胎瘤"],[251855,"间变性/大细胞成神经管细胞瘤"],[251858,"成神经管细胞瘤伴广泛性结节",["MBEN"]],[251863,"促结缔组织增生性/结节性成神经管细胞瘤"],[251867,"典型成神经管细胞瘤"],[251870,"中枢神经系统胚胎瘤",["中枢神经系统原发性神经内分泌肿瘤"]],[251877,"神经节成神经细胞瘤"],[251880,"室管膜母细胞瘤"],[251883,"中枢神经系统髓质上皮瘤"],[251891,"弃用：非典型畸胎样/横纹肌样肿瘤",["AT/RT"]],[251896,"脉络丛瘤"],[251899,"脉络丛癌"],[251902,"非典型乳头状脉络丛瘤",["非典型乳头状脉络丛瘤"]],[251905,"神经上皮松果体瘤"],[251909,"松果体母细胞瘤"],[251912,"松果体细胞瘤"],[251915,"松果体乳头状瘤",["PTPR"]],[251919,"松果体中分化实质瘤"],[251924,"神经元肿瘤"],[251927,"脑室外神经细胞瘤",["EVN"]],[251931,"小脑磷脂神经细胞瘤"],[251934,"混合神经胶质瘤"],[251937,"神经节细胞瘤"],[251940,"促结缔组织增生性婴儿星形细胞瘤/神经节神经胶质瘤",["DIA/DIG"]],[251946,"胚胎发育不良性神经上皮瘤",["DNET"]],[251949,"神经节神经胶质瘤"],[251957,"间变性神经节神经胶质瘤"],[251962,"乳头状神经胶质瘤",["假乳头神经细胞瘤伴胶质分化"]],[251975,"玫瑰花形神经胶质瘤",["RGNT"]],[251992,"神经节瘤"],[251995,"中枢神经系统原发性生殖细胞瘤",["CNS原发性生殖细胞瘤"]],[252006,"中枢神经系统卵黄囊瘤",["中枢神经系统内胚层窦瘤"]],[252015,"中枢神经系统绒毛膜癌"],[252018,"中枢神经系统畸胎瘤"],[252021,"中枢神经系统混合性生殖细胞瘤",["CNS混合性生殖细胞瘤"]],[252025,"脑膜瘤"],[252028,"中枢神经系统原发性黑色素细胞瘤",["中枢神经系统原发性黑色素瘤损害"]],[252031,"弥漫性软脑膜黑素细胞增多症",["软脑膜黑色素瘤病"]],[252046,"脑膜黑素细胞瘤"],[252050,"中枢神经系统原发性黑色素瘤",["中枢神经系统恶性黑色素瘤"]],[252054,"血管母细胞瘤"],[252057,"颅、脊神经瘤",["颅神经和脊神经罕见性肿瘤"]],[252128,"恶性周围神经鞘肿瘤伴神经束膜分化",["恶性神经束膜瘤"]],[252131,"良性周围神经鞘瘤",["BPNST"]],[252164,"良性神经鞘瘤",["外周成纤维细胞瘤"]],[252175,"前庭神经鞘瘤",["听神经鞘瘤"]],[252183,"神经纤维瘤"],[252190,"遗传性神经系统癌症易感综合征"],[252202,"体质性错配修复缺失综合征",["CMMR-D综合征"]],[252206,"黑色素瘤与神经系统肿瘤综合征",["黑色素瘤-星形细胞瘤综合征"]],[252212,"恶性蝾螈瘤",["恶性神经鞘瘤伴横纹肌肉瘤分化"]],[254334,"常染色体隐性遗传性中间型腓骨肌萎缩症B型",["RI-CMT B型"]],[254343,"常染色体隐性痉挛性共济失调-视神经萎缩-构音障碍综合征",["痉挛性共济失调4型"]],[254346,"染色体19p13.12微缺失综合征",["19p13.12单体"]],[254351,"末端染色体7q11.23微缺失综合征",["7q11.23远端单体"]],[254361,"网蛋白相关性R17型肢带型肌营养不良症",["常染色体隐性遗传肢带型肌营养不良症2Q型"]],[254367,"罕见性扁平苔藓",["罕见性LP"]],[254370,"罕见性皮肤扁平苔藓",["罕见性皮肤LP"]],[254373,"罕见性粘膜扁平苔藓",["罕见性粘膜LP"]],[254379,"线型扁平苔藓",["Blaschkoid线扁平苔藓"]],[254395,"光化性扁平苔藓",["夏季光化性苔藓样疹"]],[254411,"环状萎缩性扁平苔藓",["环状萎缩性LP"]],[254424,"环状扁平苔藓",["环状LP"]],[254449,"萎缩性扁平苔藓",["萎缩性LP"]],[254463,"色素性扁平苔藓",["色素性倒向扁平苔藓"]],[254478,"天疱疮样扁平苔藓",["天疱疮样LP"]],[254492,"前额纤维性脱发",["FFA"]],[254504,"吸入性肉毒中毒",["吸入性肉毒中毒"]],[254509,"医源性肉毒中毒",["意外性肉毒中度"]],[254516,"Temple综合征"],[254519,"Kagami-Ogata综合征",["KOS"]],[254525,"父源染色体14q32.2微缺失所致Temple综合征",["父源14q32.2缺失"]],[254528,"母源染色体14q32.2微缺失所致加Kagami-Ogata综合征",["母源14q32.2单体"]],[254531,"父源染色体14q32.2低甲基化所致坦Temple合征"],[254534,"母源染色体14q32.2高甲基化所致Kagami-Ogata综合征"],[254685,"妊娠滋养细胞疾病"],[254688,"完全性葡萄胎",["完全性葡萄胎妊娠"]],[254693,"部分性葡萄胎",["不完全性葡萄胎"]],[254698,"上皮样滋养层细胞肿瘤"],[254704,"遗传性高铁蛋白血症不伴铁超载",["良性高铁蛋白血症"]],[254707,"费萨拉巴德组织细胞增多症",["FHC"]],[254712,"家族性窦组织细胞增生伴巨大淋巴结病",["家族性Rosaï-Dorfman病"]],[254723,"色素沉着多毛症伴胰岛素依赖型糖尿病综合征",["PHID"]],[254746,"丙酮酸代谢紊乱"],[254749,"三羧酸循环障碍",["柠檬酸循环障碍"]],[254758,"线粒体DNA异常所致线粒体氧化磷酸化障碍",["线粒体DNA异常所致OXPHOS病"]],[254767,"线粒体DNA单一大片段缺失所致线粒体氧化磷酸化障碍",["线粒体DNA单一大片段缺失所致线粒体氧化磷酸化障碍"]],[254776,"线粒体DNA点突变所致线粒体氧化磷酸化障碍",["线粒体DNA点突变所OXPHOS病"]],[254788,"线粒体DNA相关线粒体肌病",["母系遗传的线粒体肌病"]],[254793,"线粒体DNA复制所致线粒体氧化磷酸化障碍",["线粒体DNA复制所致线粒体氧化磷酸化障碍"]],[254803,"脑肌病型线粒体DNA缺失综合征",["线粒体DNA缺失综合征脑肌病型"]],[254807,"多重线粒体DNA缺失综合征",["多重线粒体DNA缺失综合征"]],[254818,"共济失调神经病变"],[254822,"机制不明的线粒体氧化磷酸化障碍",["机制不明的OXPHOS病"]],[254827,"线粒体膜转运障碍"],[254830,"线粒体基质载体障碍"],[254834,"线粒体蛋白质转入障碍"],[254837,"未指明的线粒体疾病"],[254843,"运动不耐受伴乳酸酸中毒"],[254846,"孤立性氧化磷酸化复合体障碍",["孤立性呼吸链复合体障碍"]],[254851,"线粒体DNA相关肌张力障碍",["母系遗传的线粒体肌张力障碍"]],[254854,"单纯线粒体肌病"],[254857,"致命型婴儿线粒体肌病",["致命型婴儿线粒体疾病"]],[254864,"线粒体肌病伴可逆性细胞色素C氧化酶缺乏症",["婴儿可逆性细胞色素C氧化酶缺乏性肌病"]],[254871,"肝脑型线粒体DNA缺失综合征",["线粒体DNA缺失综合征肝脑型"]],[254875,"肌病型线粒体DNA缺失综合征",["线粒体DNA缺失综合征肌病型"]],[254881,"脊髓小脑共济失调伴癫痫",["线粒体脊髓小脑共济失调伴癫痫"]],[254886,"常染色体隐性遗传性进行性外眼肌麻痹",["arPEO"]],[254892,"常染色体显性遗传性进行性眼外肌麻痹",["adPEO"]],[254898,"耳聋-脑神经病变-肥胖-心脏瓣膜病综合征",["耳聋-脑神经病变-肥胖-心脏瓣膜病综合征"]],[254902,"肾小管病变-脑病-肝衰竭综合征"],[254905,"孤立性细胞色素C氧化酶缺乏症",["孤立性线粒体呼吸链复合物IV缺乏症"]],[254913,"孤立性ATP合酶缺乏症",["孤立性线粒体呼吸链复合物V缺乏症"]],[254920,"结合氧化磷酸化不足2",["COXPD2"]],[254925,"结合氧化磷酸化不足4",["COXPD4"]],[254930,"结合氧化磷酸化不足7",["严重C12ORF65基因相关联合氧化磷酸化缺陷症"]],[255117,"弃用：常染色体显性遗传性视神经萎缩和迟发性耳聋"],[255132,"成人常染色体隐性遗传性铁粒幼细胞贫血",["GLRX5基因相关铁粒幼细胞贫血"]],[255138,"丙酮酸脱氢酶E1-β缺乏症",["丙酮酸脱氢酶复合物E1-β亚单位缺乏症"]],[255182,"丙酮酸脱氢酶E3结合蛋白缺陷病",["支链α-酮酸脱氢酶复合物缺乏症"]],[255199,"弃用：散发性Leigh综合征",["散发性婴儿亚急性坏死性脑病"]],[255210,"线粒体DNA相关Leigh综合征",["母系遗传的婴儿亚急性坏死性脑病"]],[255225,"弃用：母系遗传性线粒体肥厚性心肌病"],[255229,"纳瓦霍神经性肝病",["纳瓦霍神经性肝病"]],[255235,"脑肌病型线粒体DNA缺失综合征伴肾小管病变",["脑肌病型线粒体DNA缺失综合征伴肾小管病变"]],[255241,"Leigh综合征伴脑白质营养不良症",["婴儿亚急性坏死性脑病伴脑白质营养不良症"]],[255249,"Leigh综合征伴肾病综合征",["婴儿亚急性坏死性脑病伴肾病综合征"]],[260305,"常染色体隐性遗传性铁幼粒细胞性贫血",["先天性铁幼粒细胞性贫血"]],[261102,"远端染色体7q11.23微重复综合征",["7q11.23远端三体"]],[261112,"9号染色体短臂单体",["9号染色体短臂缺失综合征"]],[261120,"染色体14q11.2微缺失综合征",["14q11.2单体"]],[261144,"染色体14q12微缺失综合征",["14q12单体"]],[261183,"染色体15q11.2微缺失综合征",["15q11.2BP1-BP2微缺失综合征"]],[261190,"染色体15q14微缺失综合征",["15q14单体"]],[261197,"近端染色体16p11.2微缺失综合征",["16p11.2近端单体"]],[261204,"染色体16p11.2p12.2微复制综合征",["16p11.2p12.2三体"]],[261211,"染色体16p11.2p12.2微缺失综合征",["16p11.2p12.2单体"]],[261222,"远端染色体16p11.2微缺失综合征",["16p11.2远端单体"]],[261229,"染色体14q11.2微重复综合征",["14q11.2三体"]],[261236,"染色体16p13.11微缺失综合征",["16p13.11单体"]],[261243,"16p13.11微重复综合征",["16p13.11三体"]],[261250,"16q24.3微缺失综合征",["16q24.3单体"]],[261257,"17p13.3远端微缺失综合征",["17p13.3远端单体"]],[261265,"17q12微缺失综合征",["17q12单体"]],[261272,"17q12微重复综合征",["17q12三体"]],[261279,"17q23.1q23.2微缺失综合征",["17q23.1q23.2单体"]],[261290,"17号染色体短臂三体",["17号染色体短臂重复"]],[261295,"20p12.3微缺失综合征",["20p12.3单体"]],[261304,"父源20q13.2q13.3微缺失综合征",["父源20q13.2q13.3单体"]],[261311,"20q13.33微缺失综合征",["20q13.33单体"]],[261318,"20号染色体短臂三体",["20号染色体短臂部分重复"]],[261323,"21q22.11q22.12微缺失综合征",["21q22.11q22.12单体"]],[261330,"22q11.2远端微缺失综合征",["22q11.2远端单体"]],[261337,"22q11.2远端微重复综合征",["22q11.2远端三体"]],[261344,"1号染色体长臂三体",["1号染色体长臂重复"]],[261349,"2p15p16.1微缺失综合征",["2p15p16.1单体"]],[261476,"Xp21微缺失综合征",["甘油激酶缺乏症-邻近基因综合征"]],[261483,"Xq27.3q28重复综合征",["Xq27.3-q28微重复综合征"]],[261494,"Kleefstra综合征"],[261501,"Xp11.3微缺失所致非典型Norrie病",["Xp11.3缺体所致非典型Norrie病"]],[261512,"弃用：Xp11.3单体所致视网膜色素变性和智力障碍",["Xp11.3微缺失所致视网膜色素变性和智力障碍"]],[261519,"母源X染色体单亲二倍体",["UPD(X)mat"]],[261524,"父源X染色体单亲二倍体",["UPD(X)pat"]],[261529,"环状Y染色体综合征",["环状Y染色体"]],[261534,"49,XXXYY综合征"],[261537,"2q22单体所致Mowat-Wilson综合征",["2q22微缺失所致Hirschsprung病和智力障碍"]],[261552,"ZEB2基因点突变所致Mowat-Wilson综合征",["ZEB2基因点突变所致Hirschsprung病和智力障碍"]],[261559,"弃用：3q23重排所致睑裂狭小-上睑下垂-倒向型内眦赘皮综合征"],[261572,"弃用：点突变所致睑裂狭小-上睑下垂-倒向型内眦赘皮综合征",["点突变所致睑裂狭小1型和2型"]],[261579,"弃用：拷贝数变异所致睑裂狭小-上睑下垂-倒向型内眦赘皮综合征",["拷贝数变异所致睑裂狭小1型和2型"]],[261584,"5q22.2微缺失所致家族性腺瘤性息肉病",["5q22.2单体所致结直肠腺瘤性息肉病"]],[261600,"20p12微缺失所致Alagille综合征",["20p12单体所致综合症性胆管缺乏"]],[261619,"JAG1基因点突变所致Alagille综合征",["JAG1基因点突变所致综合症性胆管缺乏"]],[261629,"NOTCH2基因点突变所致Alagille综合征",["NOTCH2基因点突变所致综合症性胆管缺乏"]],[261638,"20q13微缺失所致Okihiro综合征",["20q13单体所致Duane-radial ray综合征"]],[261647,"点突变所致Okihiro综合征",["点突变所致Duane-radial 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腺瘤",["AB型原发性胸腺上皮肿瘤"]],[263331,"高分化胸腺神经内分泌癌"],[263335,"中分化胸腺神经内分泌癌"],[263339,"低分化胸腺神经内分泌癌"],[263347,"MRCS综合征",["小角膜-视杆-视锥营养不良-白内障-后葡萄肿综合征"]],[263352,"心脏术后右心衰竭"],[263355,"ATR-X相关综合征"],[263410,"婴儿痉挛-精神运动性迟滞-进行性脑萎缩-基底节病综合征"],[263413,"血管肉瘤"],[263417,"巴特综合征伴低钙血症"],[263425,"太田痣",["眼上腭部褐青色痣"]],[263432,"伊藤痣",["肩峰三角肌蓝褐痣"]],[263435,"先天性平滑肌错构瘤"],[263440,"神经棘红细胞增多症"],[263455,"HNF4A基因缺陷所致高胰岛素血症",["HNF4A基因缺陷所致的高胰岛素低血糖"]],[263458,"INSR基因缺陷所致高胰岛素血症",["胰岛素受体缺陷所致的高胰岛素低血糖"]],[263463,"CHST3基因相关骨骼发育不良",["CHST3型脊柱骨骺发育不良伴先天性关节脱位"]],[263479,"Fuchs异色性虹膜睫状体炎",["FHI"]],[263482,"脊椎骨骺发育不良，Maroteaux型",["假性Morquio综合征2型"]],[263487,"COG5基因型先天性糖基化障碍",["糖基化缺陷糖蛋白综合征IIi型"]],[263494,"DPM3基因型先天性糖基化障碍",["糖基化缺陷糖蛋白综合征Io型"]],[263501,"COG4基因型先天性糖基化障碍",["糖基化缺陷糖蛋白综合征IIj型"]],[263508,"COG1基因型先天性糖基化障碍",["糖基化缺陷糖蛋白综合征IIg型"]],[263516,"进行性肌阵挛癫痫3型",["KCTD7基因缺陷所致进行性肌阵挛癫痫"]],[263524,"儿童急性坏死性脑病",["孤立性急性坏死性脑病"]],[263534,"肢端皮肤剥脱综合征",["局部性皮肤剥脱"]],[263543,"全身皮肤剥脱综合征",["广泛性皮肤剥脱"]],[263548,"皮肤剥脱综合征A型",["非炎性广泛性皮肤剥脱综合征A.型"]],[263553,"皮肤剥脱综合征B型",["广泛性皮肤剥脱综合征B型"]],[263558,"皮肤剥脱综合征C型",["广泛性皮肤剥脱综合征C型"]],[263662,"家族性多发性脑膜瘤"],[263665,"NK细胞肠病"],[263676,"弃用：眼部特征相关遗传性大疱性表皮松解症"],[263708,"复杂染色体重排"],[263711,"X染色体异常"],[263714,"X染色体数目异常"],[263717,"X染色体数目异常伴女性表型"],[263720,"X染色体数目异常伴男性表型"],[263723,"X染色体多体"],[263726,"X染色体部分缺失",["X染色体部分单体"]],[263731,"X染色体短臂部分单体",["X染色体短臂部分缺失"]],[263746,"Y染色体数目异常"],[263749,"X和Y染色体异常"],[263756,"X染色体长臂部分缺失",["X染色体长臂部分单体"]],[263768,"X染色体部分重复",["X染色体部分三体"]],[263775,"X染色体短臂部分重复",["X染色体短臂部分三体"]],[263783,"X染色体长臂部分重复",["X染色体长臂部分三体"]],[263793,"X染色体单亲二倍体",["X染色体单亲二倍体"]],[263798,"Y染色体异常"],[264200,"14q22q23微缺失综合征",["14q22-q23微缺失综合征"]],[264431,"1号染色体短臂部分重复",["1p部分重复"]],[264450,"8号染色体长臂三体",["8p重复"]],[264580,"肝磷酸化酶激酶缺乏所致糖原贮积症",["肝磷酸化酶激酶缺乏所致糖原累积病"]],[264656,"儿童期特有的间质性肺病",["儿童期特有的ILD"]],[264665,"儿童期特有的原发性间质性肺病",["儿童期特有的原发性ILD"]],[264670,"肺泡结构紊乱所致儿童期特有的原发性间质性肺病",["肺泡结构紊乱所致儿童期特有的原发性ILD"]],[264675,"遗传性肺泡蛋白沉积症",["先天性肺泡蛋白沉积症"]],[264683,"肺泡血管疾病所致儿童期特有的原发性间质性肺病",["肺泡血管疾病所致儿童期特有的原发性ILD"]],[264688,"先天性乳糜胸"],[264691,"孤立性肺毛细血管炎"],[264694,"婴儿期特有的间质性肺病",["婴儿期特有的ILD"]],[264699,"全身性疾病相关儿童期特有的继发性间质性肺病",["全身性疾病相关儿童期特有的继发性ILD"]],[264704,"结缔组织病相关儿童期特有的继发性间质性肺病",["结缔组织病相关儿童期特有的继发性ILD"]],[264709,"全身性血管炎相关儿童期特有的继发性间质性肺病",["全身性血管炎相关儿童期特有的继发性ILD"]],[264714,"肉芽肿病相关儿童期特有的继发性间质性肺病",["肉芽肿病相关儿童期特有的继发性ILD"]],[264719,"代谢性疾病相关儿童期特有的继发性间质性肺病",["代谢病相关的儿童期特有的继发性ILD"]],[264724,"弃用：儿童期特有的朗格汉斯细胞组织细胞增多症",["儿童期特有的朗格汉斯细胞肉芽肿病"]],[264735,"成年期特有的间质性肺病",["成年期特有的ILD"]],[264740,"成年期特有的原发性间质性肺病",["成年期特有的原发性ILD"]],[264745,"全身疾病相关成年期特有的继发性间质性肺病",["全身疾病相关成年期特有的继发性ILD"]],[264750,"弃用：成年期特有的朗格汉斯细胞组织细胞增多症",["成年期特有的朗格汉斯细胞肉芽肿病"]],[264757,"儿童期和成年期间质性肺病",["儿童期和成年期ILD"]],[264762,"儿童期和成年期原发性间质性肺病",["儿童期和成年期原发性ILD"]],[264930,"肺泡结构紊乱所致儿童期和成年期原发性间质性肺病",["肺泡结构紊乱所致儿童期和成年期原发性ILD"]],[264935,"肺泡血管疾病所致儿童期和成年期原发性间质性肺病",["肺泡血管疾病所致儿童期和成年期原发性ILD"]],[264944,"儿童期和成年期继发性间质性肺病",["儿童期和成年期继发性ILD"]],[264949,"全身疾病相关儿童期和成年期继发性间质性肺病",["全身性疾病相关儿童期和成年期继发性ILD"]],[264955,"弃用：儿童期和成年期朗格汉斯细胞组织细胞增多症",["儿童期和成年期朗格汉斯细胞肉芽肿病"]],[264968,"代谢性疾病相关儿童期和成年期继发性间质性肺病",["代谢性疾病相关儿童期和成年期继发性ILD"]],[264973,"系统性脉管炎相关儿童期和成年期继发性间质性肺病",["全身性血管炎相关儿童期和成年期继发性ILD"]],[264978,"药物或辐射相关间质性肺病"],[264984,"暴露相关性间质性肺病"],[264992,"遗传性间质性肺病",["遗传性ILD"]],[268114,"RAS相关自身免疫性白血病",["RALD"]],[268129,"球状体肌病"],[268139,"眼内髓上皮瘤",["眼眶髓上皮瘤"]],[268145,"经典枫糖尿病",["经典型支链α酮酸脱氢酶缺乏症"]],[268162,"中度枫糖尿病",["中间型支链α酮酸脱氢酶缺乏症"]],[268173,"间歇性枫糖尿病",["中间型支链α酮酸脱氢酶缺乏症"]],[268184,"硫胺素反应性枫糖尿病",["硫胺素反应性支链α酮酸脱氢酶缺乏症"]],[268249,"霉酚酸酯胚胎病",["MMF型胚胎病"]],[268261,"21q22.13q22.2微缺失所致DYRK1A基因相关智力残疾综合征",["21q22.13q22.2微缺失综合征"]],[268316,"血液透析并发症"],[268322,"血小板正常的遗传性血小板减少症"],[268337,"常染色体隐性中间型夏科-马里-图斯病",["RI-CMT"]],[268357,"神经管闭合缺陷"],[268363,"开放性枕骨裂露脑畸形"],[268366,"闭合性枕骨裂露脑畸形"],[268369,"开放性脊柱裂"],[268377,"完全开放性脊柱裂"],[268384,"胸腰骶部开放性脊柱裂"],[268388,"腰骶部开放性脊柱裂"],[268392,"颈部开放性脊柱裂"],[268397,"颈胸部开放性脊柱裂"],[268740,"上胸部开放性脊柱裂"],[268744,"囊性脊柱裂"],[268748,"全囊性脊柱裂"],[268752,"胸腰骶部囊性脊柱裂"],[268758,"腰骶部囊性脊柱裂"],[268762,"颈部囊性脊柱裂"],[268766,"颈胸部囊性脊柱裂"],[268770,"上胸部囊性脊柱裂"],[268810,"后脑膜膨出"],[268813,"脊髓囊状突出"],[268817,"脑膨出"],[268820,"脑脊膜膨出"],[268823,"枕部脑膨出"],[268826,"顶叶脑膨出"],[268829,"基底脑膨出"],[268832,"神经管闭合不全相关脂肪瘤"],[268835,"脂肪脊髓脊膜膨出"],[268838,"腰骶部脂肪瘤"],[268843,"神经肠管、脊髓和脊柱畸形"],[268861,"原发性脊髓栓系综合征",["原发性脊髓栓系综合征"]],[268865,"神经管原肠囊肿"],[268868,"无脊髓畸形"],[268871,"弃用：原发性脊髓空洞症/脊髓积水"],[268874,"弃用：先天性脊髓积水"],[268882,"Arnold-Chiari畸形Ⅰ型",["Arnold-Chiari畸形1型"]],[268920,"巨脑",["孤立性巨脑畸形"]],[268926,"脑中线畸形",["脑中线畸形"]],[268936,"无嗅脑畸形"],[268940,"双侧多小脑回"],[268943,"单侧多小脑回"],[268947,"单侧局灶性多小脑回"],[268950,"大脑皮质发育不良",["大脑皮质发育不良"]],[268961,"孤立性局灶性脑皮质发育不良I型",["FCD I型"]],[268973,"孤立性局灶性脑皮质发育不良Ia型",["FCD Ia型"]],[268980,"孤立性局灶性脑皮质发育不良Ib型",["FCD Ib型"]],[268987,"孤立性局灶性脑皮质发育不良Ic型",["FCD Ic型"]],[268994,"孤立性局灶性脑皮质发育不良II型",["孤立性局灶性皮质发育不良2型"]],[269001,"孤立性局灶性脑皮质发育不良IIa型",["FCD IIa型"]],[269008,"孤立性局灶性脑皮质发育不良IIb型",["FCD IIb型"]],[269190,"脑碎屑异常"],[269194,"中枢神经系统囊性畸形"],[269197,"胶质室管膜/室管膜囊肿"],[269200,"弃用： Retrocerebellar囊肿"],[269203,"孤立性小脑蚓部发育不全"],[269206,"孤立性全小脑蚓部发育不全"],[269209,"孤立性部分小脑蚓部发育不全"],[269212,"孤立性Dandy-Walker畸形伴脑积水"],[269215,"孤立性Dandy-Walker畸形不伴脑积水"],[269218,"孤立性单侧小脑半球发育不全"],[269221,"孤立性双侧小脑半球发育不全"],[269224,"全小脑畸形",["全小脑畸形"]],[269229,"脑桥被盖帽发育不良",["PTCD"]],[269505,"先天性交通性脑积水",["先天性非梗阻性脑积水"]],[269510,"先天性非交通性脑积水",["先天性梗阻性脑积水"]],[269523,"以小脑畸形为主要特征的综合征"],[269528,"以小头畸形为主要特征的综合征"],[269531,"以中枢神经系统畸形为主要特征的其他综合征"],[269546,"以Dandy-Walker畸形为主要特征的综合征"],[269550,"遗传性非综合征性中枢神经系统畸形"],[269553,"遗传性脑畸形",["遗传性脑畸形"]],[269557,"遗传性后颅窝畸形"],[269560,"遗传性小脑畸形"],[269564,"以中枢神经系统畸形为主要特征的遗传综合征",["以CNS畸形为主要特征的遗传综合征"]],[269567,"以小脑畸形为主要特征的遗传综合征"],[269570,"以Dandy-Walker畸形为主要特征的遗传综合征"],[269573,"以胼胝体不发育/发育不全为主要特征的遗传综合征"],[271832,"遗传性软组织肿瘤",["遗传性软组织肿瘤"]],[271835,"遗传性消化道肿瘤"],[271841,"遗传性心脏肿瘤"],[271844,"遗传性泌尿生殖肿瘤"],[271847,"遗传性神经内分泌肿瘤"],[271853,"遗传性心脏异常"],[271861,"遗传性ATTR淀粉样变性",["家族性转甲状腺素蛋白相关淀粉样变性"]],[271870,"罕见遗传性全身或风湿疾病"],[275517,"自身免疫性淋巴细胞增生综合征伴复发性病毒感染",["ALPS伴复发性病毒感染"]],[275523,"Dianzani自身免疫性淋巴细胞增生性疾病",["DALD"]],[275534,"肌肉生长抑制素相关肌肉肥大"],[275543,"L1综合征",["胼胝体发育不全-发育迟缓-拇指内收-痉挛-脑积水综合征"]],[275555,"先兆子痫"],[275729,"全身血小板减少所致罕见出血性疾病",["全身血小板减少所致罕见出血性疾病"]],[275736,"血小板功能异常所致罕见出血性疾病",["血小板功能异常所致罕见出血性疾病"]],[275742,"遗传性不孕"],[275745,"α地中海贫血及相关疾病"],[275749,"β地中海贫血及相关疾病"],[275752,"镰状细胞病及相关疾病"],[275761,"溶酶体酸性脂肪酶缺乏症",["LAL缺乏症"]],[275766,"特发性肺动脉高压",["原发性肺动脉高压"]],[275777,"遗传性肺动脉高压",["遗传性肺动脉高压"]],[275786,"药物或毒素引起的肺动脉高压",["药物或毒物引起的PAH"]],[275791,"其他疾病相关肺动脉高压",["其他疾病相关PAH"]],[275798,"结缔组织病相关肺动脉高压",["结缔组织病相关PAH"]],[275803,"先天性心脏病相关肺动脉高压",["先天性心脏病相关PAH"]],[275808,"HIV感染相关肺动脉高压",["HIV感染相关性PAH"]],[275813,"门脉高压相关肺动脉高压",["门脉高压相关PAH"]],[275823,"血吸虫病相关肺动脉高压",["血吸虫病相关PAH"]],[275828,"慢性溶血性贫血相关肺动脉高压",["慢性溶血性贫血相关PAH"]],[275837,"肺部疾病和/或缺氧所致肺动脉高压",["肺部疾病和/或缺氧所致肺动脉高压"]],[275844,"多种不明机制所致肺动脉高压",["多种不明机制所致PH"]],[275853,"以肺动脉高压为主要特征的综合征"],[275864,"行为异常型额颞叶痴呆",["bv-FTD"]],[275872,"额颞叶痴呆伴运动神经元病",["额颞叶痴呆伴肌萎缩侧索硬化症"]],[275938,"胎儿母体同种异体免疫所致溶血病",["胎儿和新生儿溶血病"]],[275944,"Kell同种异体免疫所致新生儿溶血病",["母体抗Kell同种异体免疫"]],[276058,"遗传性神经退行性疾病伴痴呆"],[276061,"遗传性额颞叶变性伴痴呆"],[276066,"胆汁酸辅酶A连接酶缺乏和酰胺化缺陷"],[276142,"罕见唾液腺肿瘤"],[276145,"唾液腺恶性上皮性肿瘤"],[276148,"唾液腺良性上皮性肿瘤"],[276152,"多发性内分泌肿瘤4型",["MEN4"]],[276161,"多发性内分泌肿瘤",["MEN"]],[276174,"特发性反复木僵"],[276183,"脊髓小脑性共济失调32型",["小脑共济失调伴无精症和智力障碍"]],[276193,"脊髓小脑性共济失调35型",["SCA35"]],[276198,"脊髓小脑性共济失调36型",["Asidan"]],[276212,"粘多糖贮积症6型，进展迅速",["进展迅速的黏多糖贮积症VI型"]],[276223,"粘多糖贮积症6型，进展缓慢",["进展缓慢的黏多糖贮积症VI型"]],[276234,"精子活力障碍所致非综合征性男性不育",["弱精症所致非综合征性男性不育"]],[276238,"Machado-Joseph病1型",["Joseph型脊髓小脑共济失调3型"]],[276241,"Machado-Joseph病2型",["脊髓小脑共济失调Thomas型"]],[276244,"Machado-Joseph病3型",["Machado型脊髓小脑共济失调3型"]],[276249,"弃用：着色性干皮病A互补组",["XPA"]],[276252,"弃用：着色性干皮病B互补组",["XPB"]],[276255,"弃用：着色性干皮病C互补组",["XPC"]],[276258,"弃用：着色性干皮病D互补组",["XPD"]],[276261,"弃用：着色性干皮病E互补组",["XPE"]],[276264,"弃用：着色性干皮病F互补组",["XPF"]],[276267,"弃用：着色性干皮病G互补组",["XPG"]],[276271,"欧洲非罕见：家族性白蛋白异常性高甲状腺素血症",["双白蛋白血症"]],[276280,"偏侧增生-多发性脂肪过多症综合征",["HHML"]],[276399,"家族性多结节甲状腺肿",["家族性MNG"]],[276402,"伴有caspr2抗体的边缘叶脑炎"],[276405,"高胆绿素血症",["绿色黄疸"]],[276413,"10q22.3q23.3微缺失综合征",["10q22.3q23.3单体"]],[276422,"10q22.3q23.3微重复综合征",["10q22.3q23.3三体"]],[276429,"睡眠性头痛"],[276432,"Ogden综合征",["早衰外表-发育迟缓-心律失常综合征"]],[276435,"晚发性下运动神经元综合征",["Jokela型脊髓性肌萎缩症"]],[276525,"家族性高胰岛素血症",["家族性高胰岛素低血糖"]],[276556,"UCP2基因缺陷所致高胰岛素血症",["UCP2基因缺陷所致高胰岛素低血糖"]],[276575,"SUR1基因缺陷所致常染色体显性高胰岛素血症",["SUR1基因缺陷所致常染色体显性高胰岛素低血糖症"]],[276580,"Kir6.2缺乏所致常染色体显性高胰岛素血症",["Kir6.2缺陷所致常染色体显性高胰岛素低血糖"]],[276585,"抗二氮嗪高胰岛素血症",["抗二氮嗪高胰岛素低血糖血症"]],[276598,"SUR1基因缺陷所致抗二氮嗪局灶性高胰岛素血症",["SUR1基因缺陷所致抗二氮嗪局灶性高胰岛素低血糖血症"]],[276603,"Kir6.2缺乏所致抗二氮嗪局灶性高胰岛素血症",["Kir6.2缺乏所致抗二氮嗪局灶性高胰岛素低血糖血症"]],[276608,"非胰岛素瘤性胰源性低血糖综合征",["NIPHS"]],[276621,"散发性嗜铬细胞瘤/分泌性副神经节瘤"],[276624,"弃用：散发性嗜铬细胞瘤"],[276627,"弃用：散发性分泌性副神经节瘤"],[276630,"女性Coffin-Lowry综合征携带者症候"],[279882,"点头状痉挛"],[279888,"急性眼内炎"],[279891,"慢性眼内炎"],[279894,"抗疟药所致中毒性黄斑病变"],[279897,"原发性眼脑淋巴瘤",["原发性眼脑非霍奇金淋巴瘤"]],[279904,"原发性眼内淋巴瘤",["原发性眼内非霍奇金淋巴瘤"]],[279911,"原发性器官特异性淋巴瘤"],[279914,"中间葡萄膜炎",["IU"]],[279919,"感染性后葡萄膜炎"],[279922,"感染性前葡萄膜炎"],[279925,"感染性全葡萄膜炎"],[279928,"副肿瘤性葡萄膜炎"],[279934,"DGUOK基因缺陷所致线粒体DNA缺失综合征，肝脑型"],[279943,"遗传性中性粒细胞增多症"],[279947,"性高潮后疾病综合征",["POIS"]],[280062,"钙过敏症"],[280065,"皮肤钙化防御"],[280068,"内脏钙化防御"],[280071,"ALG11-先天性糖基化障碍",["糖基化缺陷糖蛋白综合征Ip型"]],[280110,"欧洲非罕见：佩吉特骨病",["变形骨炎"]],[280133,"补体C3缺乏症",["C3缺乏症"]],[280142,"LCK基因缺陷所致重度联合免疫缺陷",["淋巴细胞特异性蛋白酪氨酸激酶缺乏所致的严重联合免疫缺陷"]],[280183,"钴胺传递蛋白受体缺陷所致甲基丙二酸尿症",["TCbIR型甲基丙二酸尿症"]],[280195,"视交叉前脑无裂畸形",["视交叉HPE"]],[280200,"微缩型前脑无裂畸形",["微型前脑无裂畸形"]],[280205,"喉气管食道裂0型",["0型喉-气管-食道裂"]],[280210,"先天型Pelizaeus-Merzbacher病（简称佩-梅病）",["II型先天性us-Merzbacher病（简称佩-梅病）"]],[280219,"经典型佩-梅病",["经典型PMD"]],[280224,"中间型佩-梅病",["传统型PMD"]],[280229,"女性携带的佩-梅病"],[280234,"无PLP1综合征",["Pelizaeus-Merzbacher病null综合征"]],[280270,"佩-梅样病",["PMLD"]],[280282,"GJC2基因变异所致佩-梅样病",["PMLD1"]],[280288,"HSPD1基因变异所致佩-梅样病",["线粒体热休克蛋白伴随病"]],[280293,"AIMP1基因变异所致佩-梅样病"],[280302,"自身免疫性胰腺炎1型",["淋巴浆硬化性胰腺炎"]],[280315,"自身免疫性胰腺炎2型",["Duct-centric胰腺炎"]],[280325,"12号染色体短臂远端单体",["12p13.33微缺失综合征"]],[280333,"肢带型肌营养不良-抗肌萎缩相关糖蛋白病类型C9",["常染色体隐性遗传2P型肢带型肌营养不良"]],[280342,"儿童期罕见的全身性或风湿性疾病"],[280356,"PLIN1基因相关的家族性局部脂肪代谢障碍",["PLIN1基因相关FPLD"]],[280365,"常染色体半显性重度脂肪营养不良性椎板病"],[280369,"罕见小儿血管炎"],[280373,"罕见小儿系统性疾病"],[280379,"与髓系恶性肿瘤相关的红细胞生成性尿卟啉症"],[280384,"隐性智力障碍-运动功能障碍-多关节挛缩综合征",["IDMDC"]],[280397,"家族性阿尔茨海默样朊病毒病"],[280400,"遗传性人类朊病毒病",["遗传性人朊病毒病"]],[280403,"伴有面部畸形的家族性脐膨出综合征"],[280406,"家族性激素抵抗型肾病综合征伴感觉神经性耳聋",["家族性激素抵抗型肾病综合征伴感觉神经性耳聋"]],[280553,"致死性婴儿高肌张力性肌原纤维肌病"],[280558,"WARSAW破损综合症",["WABS"]],[280569,"弃用：急进性肾小球肾炎",["新月体肾炎"]],[280576,"Nestor-Guillermo早衰综合征",["NGPS"]],[280586,"软骨发育异常伴关节脱位gPAPP型",["gPAPP缺乏症"]],[280598,"遗传性感觉运动神经病伴皮肤高弹性"],[280615,"Toms River血红蛋白病",["Toms River血红蛋白所致一过性新生儿紫癜和贫血"]],[280620,"进行性肌痉挛6型",["GOSR2相关进行性肌痉挛癫痫"]],[280628,"家族性进行性色素过度沉着症",["FPHH"]],[280633,"多重先天性异常-肌张力低下-癫痫综合征",["PIGN缺陷所致先天性糖基化障碍"]],[280640,"枕叶巨脑回与多小脑回",["枕叶皮质发育畸形"]],[280651,"多激素抵抗性肢端骨发育不全"],[280654,"常染色体隐性指甲发育不良"],[280663,"Hermansky-Pudlak综合征9型",["HPS9"]],[280671,"MEGACONIAL型先天性肌营养不良",["磷脂酰胆碱生物合成缺陷所致先天性肌营养不良"]],[280679,"烟雾病-身材矮小-面部畸形-高促性腺激素性腺功能减退综合征",["烟雾病-身材矮小-面部畸形-高促性腺激素减退症"]],[280763,"严重智力障碍和进行性痉挛性截瘫",["AP4缺陷综合征"]],[280774,"泛发性原发性毛细血管扩张症",["GET"]],[280779,"皮肤胶原血管病",["CCV"]],[280785,"大疱性弥漫性皮肤肥大细胞增多症",["Bullous型DCM"]],[280794,"Pseudoxanthomatous diffuse cutaneous mastocytosis",["浸润性小水泡型弥漫性皮肤肥大细胞增生症"]],[280802,"叶内先天性肺隔离症",["叶内先天性支气管肺隔离症"]],[280811,"叶外先天性肺隔离症",["叶外先天性支气管肺隔离症"]],[280821,"交通性先天性支气管肺-前肠畸形"],[280827,"先天性肺气道畸形0型",["先天性肺囊性腺瘤样畸形0型"]],[280832,"先天性肺气道畸形1型",["先天性肺囊性腺瘤性畸形1型"]],[280840,"先天性肺气道畸形2型",["先天性肺囊性腺瘤性畸形2型"]],[280847,"先天性肺气道畸形3型",["先天性肺囊性腺瘤性畸形3型"]],[280854,"先天性肺气道畸形4型",["先天性肺囊性腺瘤样畸形4型"]],[280886,"前葡萄膜炎",["虹膜睫状体炎"]],[280892,"后葡萄膜炎",["脉络膜炎"]],[280898,"全葡萄膜炎",["完全性葡萄膜炎"]],[280914,"特发性前葡萄膜炎"],[280917,"特发性后葡萄膜炎"],[280921,"特发性全葡萄膜炎"],[280926,"全身性疾病伴前葡萄膜炎"],[280930,"全身性疾病伴后葡萄膜炎"],[280933,"全身性疾病伴全葡萄膜炎"],[281082,"遗传性非综合征型鱼鳞病"],[281085,"遗传性鱼鳞病综合征"],[281090,"综合征性X连锁隐性遗传鱼鳞病",["伴有皮外表现的隐性X连锁鱼鳞病"]],[281097,"常染色体隐性遗传性先天性鱼鳞病",["ARCI"]],[281103,"角化性鱼鳞病",["KPI"]],[281122,"自愈性火棉胶样儿",["自愈性先天性鱼鳞病"]],[281127,"肢端自愈性火棉胶样儿",["肢端型SHCB"]],[281139,"环状表皮松解性鱼鳞病",["AEI"]],[281190,"先天性网状鱼鳞状红皮病",["鱼鳞病伴多色皮屑"]],[281201,"线状角化症-先天性鱼鳞病-硬化性角化皮病综合征",["KLICK综合征"]],[281210,"X连锁遗传鱼鳞病综合征"],[281217,"常染色体遗传鱼鳞病综合征"],[281222,"伴有明显毛发异常的常染色体遗传鱼鳞病综合征"],[281234,"弃用：先天性鱼鳞病合并毛发硫代营养不良"],[281238,"伴有明显神经系统体征的常染色体遗传鱼鳞病综合征"],[281241,"伴有致命性病程的常染色体遗传鱼鳞病综合征"],[281244,"常染色体遗传鱼鳞病综合征伴其他相关体征"],[282124,"12号染色体部分缺失",["12号染色体部分单体"]],[282166,"遗传性Creutzfeldt-Jakob病",["遗传性CJD"]],[282196,"自身免疫性多内分泌病",["自身免疫性多腺体综合征"]],[284130,"欧洲非罕见：类风湿性关节炎"],[284139,"B3GAT3型Larsen样综合征",["多发性关节脱位-矮小-颅面畸形-先天性心脏病综合征"]],[284149,"颅骨融合症-牙齿畸形",["Kreiborg-Pakistani 综合征"]],[284160,"8q21.11微缺失综合征",["8q21.11单体"]],[284169,"10p11.21p12.31微缺失所致面部畸形-发育迟缓-行为异常综合征",["10p12p11微缺失综合征"]],[284180,"Xp22.13p22.2重复综合征",["Xp22.13p22.2重复"]],[284227,"TEMPI综合征（毛细血管扩张-红细胞增多症-单克隆γ病-肾周积液收集-肺内分流综合征）",["毛细血管扩张-红细胞增多症-单克隆γ病-肾周积液收集-肺内分流综合征"]],[284232,"常染色体显性遗传性Charcot-Marie-Tooth病2O型",["CMT2O"]],[284247,"家族性视网膜大动脉瘤",["视网膜大动脉瘤与瓣膜上肺动脉狭窄"]],[284264,"IgG4相关疾病",["免疫球蛋白G4相关硬化性疾病"]],[284271,"常染色体隐性小脑共济失调-精神运动迟缓综合征",["常染色体隐性遗传脊髓小脑共济失调11型"]],[284282,"WWOX基因缺陷所致常染色体隐性小脑共济失调-癫痫-智障综合征",["常染色体隐性遗传脊髓小脑共济失调12型"]],[284289,"成人起病常染色体隐性遗传小脑共济失调",["常染色体隐性遗传脊髓小脑共济失调10型"]],[284324,"儿童起病常染色体隐性遗传缓慢进行性脊髓小脑共济失调",["常染色体隐性遗传脊髓小脑共济失调7型"]],[284332,"婴幼儿起病常染色体隐性遗传非进行性小脑共济失调",["常染色体隐性遗传脊髓小脑共济失调6型"]],[284339,"桥小脑发育不全7型",["桥小脑发育不良-46，XY-性发育障碍综合征"]],[284343,"胸肺母细胞瘤家族性肿瘤易感综合征",["PPB家族性肿瘤易感综合征"]],[284362,"胎肺间质肿瘤",["未成熟间质间叶细胞肿瘤"]],[284385,"家族性肝内胆汁淤积症"],[284388,"可逆性脑血管收缩性综合征",["RCVS"]],[284395,"高分化胎儿肺腺癌",["WDFA"]],[284400,"膀胱小细胞癌",["低分化膀胱神经内分泌癌"]],[284408,"婴儿型甘油激酶缺乏症"],[284411,"幼年型甘油激酶缺乏症"],[284414,"成人型甘油激酶缺乏症"],[284417,"婴幼儿/青少年型磷酸丝氨酸转氨酶缺乏症",["婴幼儿/青年型PSAT缺乏症"]],[284426,"乳酸脱氢酶M亚单位缺乏所致糖原贮存病",["乳酸脱氢酶M亚基缺陷所致GSD"]],[284435,"乳酸脱氢酶H亚单位缺乏所致糖原贮存病",["乳酸脱氢酶H亚基缺陷所致GSD"]],[284448,"慢性淋巴细胞性炎症伴脑桥血管周围强化对类固醇的反应",["慢性淋巴细胞性炎症伴脑桥周围血管类固醇敏感"]],[284454,"急性带状隐匿性外视网膜病变",["AZOOR"]],[284460,"急性环状外视网膜病变",["AAOR"]],[284786,"肌钙蛋白的定性或定量缺陷"],[284790,"原肌球蛋白的定性或定量缺陷"],[284804,"眼白化病"],[284811,"综合征性眼皮肤白化病"],[284814,"苯丙氨酸代谢紊乱"],[284818,"酪氨酸代谢紊乱"],[284963,"马凡综合征1型",["MFS1"]],[284973,"马凡综合征2型",["MFS2"]],[284979,"新生儿马凡综合征",["新生儿MFS"]],[284984,"动脉瘤-骨关节炎综合征"],[284993,"马凡和马凡相关疾病"],[285014,"合并胸主动脉瘤和主动脉夹层的罕见疾病"],[285657,"叶酸代谢和转运障碍"],[289098,"维生素D代谢紊乱"],[289103,"低血钙性佝偻病"],[289157,"低钙维生素D依赖型佝偻病",["I型维生素D依赖性佝偻病"]],[289176,"常染色体隐性遗传性低磷性佝偻病",["ARHR"]],[289266,"GRIN2A基因变异所致早发性癫痫性脑病和智力障碍"],[289290,"腺苷激酶缺陷所致高蛋氨酸血症脑病",["ADK缺陷所致高蛋氨酸血症脑病"]],[289307,"甲基丙二酸半醛脱氢酶缺乏所致发育迟缓",["甲基丙二酸半醛脱氢酶缺乏所致发育迟缓"]],[289326,"热带痉挛性截瘫",["人T淋巴细胞病毒1型相关脊髓病/热带痉挛性轻截瘫"]],[289347,"与HTLV-1基因相关的感染性皮炎",["人T淋巴细胞病毒I型相关性感染性皮炎"]],[289356,"原发性非妊娠卵巢绒毛膜癌",["卵巢原发性非妊娠性绒毛膜癌"]],[289362,"非中枢神经系统局限性胚胎性癌",["非中枢神经系统局限性胚胎癌"]],[289365,"家族性膀胱输尿管反流",["家族性膀胱输尿管反流"]],[289377,"早发性肌病伴致死性心肌病",["Salih肌病"]],[289380,"肌硬化症",["Löwenthal型先天性肌硬化症"]],[289385,"妊娠期间诊断为恶性肿瘤",["怀孕期间确诊恶性肿瘤"]],[289390,"原发性干燥综合征",["原发性干燥综合征"]],[289395,"欧洲非罕见：继发性干燥综合征",["继发性干燥综合征"]],[289465,"孤立性先天性畸形症",["先天性指纹缺失"]],[289478,"坏疽脓皮病-痤疮-化脓性汗腺炎综合征",["坏疽脓皮病-痤疮-化脓性汗腺炎综合征"]],[289483,"智力障碍-软化症-贲门失弛缓症综合征"],[289494,"4H型脑白质营养不良",["POLR相关脑白质营养不良"]],[289499,"先天性白内障小角膜伴角膜混浊",["先天性白内障小角膜伴角膜混浊"]],[289504,"丙二酸血症和甲基丙二酸血症",["丙二酸血症合并甲基丙二酸血症"]],[289513,"12q15q21.1微缺失综合征",["12q15q21.1单体"]],[289522,"微三倍体11q24.1",["11q24.1四体"]],[289527,"弃用：线粒体复合体I缺乏所致致死性婴幼儿肥厚型心肌病",["NADH辅酶Q还原酶缺乏所致致死性婴幼儿肥厚型心肌病"]],[289539,"BAP1基因相关肿瘤易感综合征",["BAP1基因突变相关肿瘤易感综合征"]],[289548,"Cyp11a1基因部分缺陷所致遗传性孤立性肾上腺功能不全"],[289553,"畸形-传导性听力损失-心脏缺陷综合征"],[289560,"线粒体膜蛋白相关性神经变性",["C19orf12基因突变所致神经退行性变大脑铁蓄积"]],[289573,"多发性线粒体功能障碍综合征"],[289586,"剥脱性鱼鳞病",["常染色体隐性遗传剥脱性鱼鳞病"]],[289596,"青少年鼻咽血管纤维瘤",["青少年鼻咽血管纤维瘤"]],[289601,"遗传性动脉和关节多发性钙化综合征",["关节和动脉钙化"]],[289635,"罕见的病毒相关肿瘤"],[289638,"EB病毒相关肿瘤",["EB病毒相关肿瘤"]],[289644,"EB病毒相关恶性淋巴增生性疾病",["EB病毒相关恶性淋巴增生性疾病"]],[289651,"EB病毒相关癌",["EB病毒相关癌"]],[289656,"EB病毒相关性间叶性肿瘤",["EB病毒相关性间叶性肿瘤"]],[289661,"老年人EB病毒阳性弥漫性大B细胞淋巴瘤",["老年人EB病毒阳性弥漫性大B细胞淋巴瘤"]],[289666,"浆母细胞淋巴瘤",["浆母细胞淋巴瘤"]],[289682,"淋巴上皮样癌"],[289685,"肌周细胞瘤"],[289825,"不累及全身或内脏的迟发性原发性淋巴水肿"],[289829,"色氨酸代谢紊乱"],[289832,"赖氨酸和羟赖氨酸代谢紊乱"],[289841,"谷氨酰胺代谢紊乱"],[289846,"谷胱甘肽合成酶缺乏症伴5-氧脯氨酸尿症"],[289849,"不伴5-氧脯氨酸尿症的谷胱甘肽合成酶缺乏症"],[289857,"新生儿甘氨酸脑病",["新生儿非酮症高血糖"]],[289860,"婴儿甘氨酸脑病",["婴儿非酮症高血糖"]],[289863,"非典型甘氨酸脑病",["非典型非酮症高血糖"]],[289866,"脯氨酸代谢紊乱"],[289869,"鸟氨酸代谢紊乱"],[289877,"新生儿一过性高氨血症"],[289891,"甘氨酸N-甲基转移酶缺陷所致高蛋氨酸血症",["甘氨酸N-甲基转移酶缺乏症所致高蛋氨酸血症"]],[289899,"有机酸尿"],[289902,"3-甲基谷氨酸尿症"],[289916,"维生素B12-无反应性甲基丙二酸血症mut0型",["维生素B12-无反应性甲基丙二酸血症mut0型"]],[290836,"累及皮肤的全身性疾病"],[290839,"自体炎症综合征伴有免疫缺陷"],[290842,"自体炎症综合征伴皮肤受累"],[290849,"罕见的头颈部肿瘤"],[293144,"5q31微缺失所致家族性马蹄内翻足",["5q31微缺失所致家族性马蹄内翻足"]],[293150,"PITX1点突变所致家族性马蹄内翻足",["PITX1基因点突变所致家族性马蹄内翻足"]],[293165,"皮肤脆性-毛发-掌跖角化病综合征",["皮肤脆性-毛发-掌跖角化病综合征"]],[293168,"婴儿起病的上行性遗传性痉挛性瘫痪",["婴儿起病上行性遗传性痉挛性瘫痪"]],[293173,"急性泛发性发疹性脓疱病",["脓疱性药疹"]],[293181,"婴儿期恶性迁移性灶性癫痫",["婴儿期恶性迁移性灶性惊厥"]],[293190,"弃用：多形性未分化肉瘤"],[293199,"多形性横纹肌肉瘤"],[293202,"上皮样肉瘤"],[293208,"腹腔动脉压迫综合征",["Dunbar综合征"]],[293284,"四氢生物蝶呤敏感性高苯丙氨酸血症/苯丙酮尿症",["四氢生物蝶呤反应性高苯丙氨酸血症/苯丙酮尿症"]],[293355,"不伴同型半胱氨酸尿症的甲基丙二酸血症",["甲基丙二酸尿症不伴高胱氨酸尿症"]],[293375,"Grayson-Wilbrandt角膜营养不良",["Grayson-Wilbrandt角膜营养不良"]],[293381,"上皮反复糜烂性营养不良",["复发性遗传性角膜糜烂"]],[293462,"后弹力层前角膜营养不良",["Descemet前角膜营养不良"]],[293603,"先天性遗传性内皮营养不良II型",["婴儿遗传性内皮营养不良"]],[293621,"x连锁内皮角膜营养不良",["X连锁角膜内皮营养不良"]],[293633,"PYCR1基因相关De Barsy综合征",["吡咯啉-5-羧酸还原酶1缺乏症"]],[293642,"睑裂-智力障碍综合征",["睑裂-智力发育迟缓综合征"]],[293707,"睑裂-智力障碍综合征MKB型",["小睑裂-智力迟滞综合征"]],[293725,"睑裂-智力障碍综合征Verloes型",["睑裂-智力障碍综合征V型"]],[293807,"氯胺酮诱导的胆管扩张"],[293812,"固定性药疹"],[293815,"毒性皮肤病"],[293822,"MITF基因相关黑色素瘤和肾细胞癌易感综合征"],[293825,"先天性红细胞生成障碍性贫血IV型",["KLF1基因突变所致先天性红细胞生成障碍性贫血"]],[293830,"体质性红细胞生成障碍性贫血"],[293838,"致死性婴儿脑病-肺动脉高压综合征"],[293843,"Malpuech-Michels-Mingarelli-Carnevale综合征",["Malpuech-Michels-Mingarelli-Carnevale综合征"]],[293848,"右侧颞叶萎缩变异型额颞叶痴呆",["右侧颞叶萎缩变异型额颞叶痴呆"]],[293864,"胰腺发育不良-肠闭锁-胆囊发育不良综合征"],[293888,"左心型家族性孤立性心律失常性心室发育不良",["左心型家族性孤立性心律失常性室性心肌病"]],[293899,"双心型家族性单纯性致心律失常性心室发育不良",["双心型家族性单纯性致心律失常性室性心肌病"]],[293910,"右心型家族性单纯性致心律失常性心室发育不良",["右心型家族性孤立性心律失常性室性心肌病"]],[293925,"致死性枕脑膨出-骨骼发育不良综合征"],[293936,"内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征",["内皮营养不良-虹膜发育不良-先天性白内障-基质变薄综合征"]],[293939,"Xq28远端微重复综合征",["Xq28远端三体"]],[293948,"1p21.3微缺失综合征",["1p21.3单体"]],[293955,"硫胺素焦磷酸激酶缺乏所致儿童脑病"],[293958,"耳垂-耳前窦-点状凹陷-耳聋综合征",["耳垂-耳前窦-点状凹-耳聋综合征"]],[293964,"低胰岛素型低血糖和偏身肥大"],[293967,"低促性腺激素性腺功能减退症-严重小头畸形-感音神经性聋-畸形综合征",["低促性腺激素减退症-严重小头畸形-感音神经性耳聋-畸形综合征"]],[293978,"垂体前叶功能缺陷-变异性免疫缺陷综合征",["垂体前叶功能缺陷-变异性免疫缺陷综合征"]],[293987,"快速发病的儿童肥胖-下丘脑功能障碍-低通气-自主神经失调综合征",["快速发病的儿童肥胖-下丘脑功能障碍-低通气-自主神经失调综合征"]],[294016,"小头畸形-毛细血管畸形综合征",["小头畸形-皮肤毛细血管畸形综合征"]],[294023,"新生儿炎症性皮肤和肠病"],[294026,"2q31.1微重复引起的并指-眼球震颤综合征",["2q31.1三体所致并指-眼球震颤综合征"]],[294049,"留尼汪岛Larsen样综合征",["多发性关节脱位-身材矮小-颅面畸形综合征"]],[294057,"罕见痣"],[294060,"多发性翼状胬肉综合征"],[294415,"肾-肝-胰发育不良",["肾肝胰发育不良"]],[294422,"慢性肠衰竭",["慢性肠衰竭"]],[294925,"缺肢"],[294927,"肢体间断性残缺",["先天性短骨"]],[294929,"弃用：终末肢体缺陷",["终末残肢"]],[294931,"弃用：老练的手",["手指缺如"]],[294935,"弃用：手裂或脚裂畸形"],[294937,"弃用：指过短"],[294939,"弃用：轴前多指畸形",["轴前多指畸形"]],[294942,"弃用：轴后多指畸形",["轴前多指畸形"]],[294944,"先天性四肢畸形"],[294947,"先天性手指畸形"],[294949,"关节构造畸形"],[294951,"先天性关节脱位"],[294953,"非综合征型肢体过度生长"],[294955,"伴肢体缺陷综合征"],[294957,"骨质疏松症伴上下肢联合缺损"],[294959,"肢体重复、多指、并指和/或多指畸形综合征"],[294961,"弃用：四肢骨性连结综合征"],[294963,"腘窝翼状胬肉综合征"],[294965,"致死性先天性挛缩综合征",["致死性先天性挛缩综合征"]],[294967,"上肢残缺"],[294969,"下肢残缺"],[294971,"四肢残缺",["全无肢"]],[294973,"肱骨发育不全/发育不良",["先天性肱骨发育不良"]],[294975,"先天性上臂和前臂缺失并有手部存在",["肱-桡-尺骨干横贯残肢畸形"]],[294977,"先天性大腿和小腿缺失并有足部存在",["股胫腓骨骨干横贯残肢畸形"]],[294979,"先天性前臂和手部缺失",["桡尺末端横贯残肢畸形"]],[294981,"先天性小腿和足部缺失",["胫腓末端横贯残肢畸形"]],[294983,"手部缺失畸形",["先天性手缺如"]],[294986,"足部缺失畸形",["先天性足缺如"]],[294988,"先天性拇指发育不全",["先天性拇指缺如/发育不全"]],[294990,"弃用：除拇指外的手指先天缺失/发育不良",["2-5指少指畸形"]],[294992,"弃用：手裂",["先天性缺手"]],[294994,"弃用：足裂"],[294996,"弃用：短指",["短指"]],[294998,"弃用：短趾",["短趾"]],[295000,"收缩环带综合征",["先天性收缩环"]],[295002,"多指/趾",["多指/趾骨"]],[295004,"中间指/趾畸形",["轴间多指（趾）畸形"]],[295006,"弃用：脚趾轴前多指畸形",["轴前多趾畸形"]],[295008,"弃用：足趾轴后多指畸形",["轴后多趾畸形"]],[295010,"弃用：脚趾中心性多指畸形",["轴间多趾畸形"]],[295012,"并指6型",["2-5指（趾）并指（趾）畸形"]],[295014,"家族性孤立性指曲畸形"],[295016,"驼指畸形"],[295018,"先天性胫骨假关节",["先天性胫骨假关节"]],[295020,"先天性股骨假关节",["先天性股骨假关节"]],[295022,"先天性腓骨假关节",["先天性腓骨假关节"]],[295024,"先天性桡骨假关节",["先天性桡骨假关节"]],[295026,"先天性尺骨假关节",["先天性尺骨假关节"]],[295028,"胫腓骨融合",["胫腓骨融合"]],[295030,"真性先天性肩关节脱位"],[295032,"孤立性先天性桡骨头脱位",["孤立性先天性肘关节脱位"]],[295034,"先天性膝关节脱位"],[295036,"先天性髌骨脱位"],[295038,"弃用：单侧髌骨发育不全/发育不良"],[295041,"弃用：双侧髌骨发育不全/发育不良"],[295044,"巨指症",["巨指畸形"]],[295047,"巨趾症",["巨趾畸形"]],[295049,"上肢肥大"],[295051,"下肢肥大"],[295053,"弃用：单侧上肢残缺"],[295055,"弃用：双侧上肢残缺"],[295057,"弃用：单侧下肢残缺"],[295059,"弃用：双侧下肢残缺"],[295061,"弃用：单侧肱骨发育不全/发育不良",["单侧肱骨骨干残肢畸形"]],[295063,"弃用：双侧肱骨发育不全/发育不良",["双侧肱骨骨干残肢畸形"]],[295065,"弃用：单侧股骨发育不全/发育不良",["单侧股骨骨干残肢畸形"]],[295067,"弃用：双侧股骨发育不全/发育不良",["双侧股骨骨干残肢畸形"]],[295069,"弃用：单侧桡骨偏侧",["单侧桡骨纵向残肢畸形"]],[295071,"弃用：双侧桡骨偏侧",["双侧桡骨纵向残肢畸形"]],[295073,"弃用：单侧尺骨偏侧",["双侧尺骨纵向残肢畸形"]],[295075,"弃用：双侧尺骨偏侧",["单侧尺骨纵向残肢畸形"]],[295077,"弃用：单侧胫骨偏侧",["单侧胫骨纵向残肢畸形"]],[295079,"弃用：双侧胫骨偏侧",["双侧胫骨纵向残肢畸形"]],[295081,"弃用：单侧腓骨半侧",["单侧腓骨纵向残肢畸形"]],[295083,"弃用：双侧腓骨半侧",["双侧腓骨纵向残肢畸形"]],[295085,"弃用：单侧先天性上臂和前臂缺如并有手",["单侧肱-桡-尺骨干横贯残肢畸形"]],[295087,"弃用：双侧先天性上臂和前臂缺如并有手",["双侧肱-桡-尺骨干横贯残肢畸形"]],[295089,"弃用：单侧先天性大腿和小腿缺失并有脚",["单侧股胫腓骨干横贯残肢畸形"]],[295091,"弃用：双侧先天性大腿和小腿缺失并有脚",["双侧股胫腓骨干横贯残肢畸形"]],[295093,"弃用：单侧先天性前臂和手同时缺失",["单侧桡尺骨末端横贯残肢畸形"]],[295095,"弃用：双侧先天性前臂和手同时缺失",["双侧桡尺骨末端横贯残肢畸形"]],[295097,"弃用：单侧小腿和足部先天性缺失",["单侧胫腓骨末端横贯残肢畸形"]],[295099,"弃用：双侧小腿和足部先天性缺失",["双侧胫腓骨末端横贯残肢畸形"]],[295101,"弃用：单侧肢体缺如",["先天性单侧手缺如"]],[295103,"弃用：双侧肢体缺如",["先天性双侧手缺如"]],[295105,"弃用：单侧足部缺如",["先天性单侧足缺如"]],[295107,"弃用：双侧足部缺如",["先天性双侧足缺如"]],[295110,"弃用：单侧拇指先天缺失/发育不良",["单侧少拇指畸形"]],[295112,"弃用：双侧拇指先天缺失/发育不良",["双侧少拇指畸形"]],[295114,"弃用：双侧拇指以外的手指先天缺失/发育不良",["双侧少2-5指畸形"]],[295116,"弃用：单侧足趾缺如",["先天性单侧趾缺如"]],[295118,"弃用：双侧足趾缺如",["先天性双侧趾缺如"]],[295120,"弃用：单侧掌裂",["单侧先天性缺指畸形"]],[295122,"弃用：双侧掌裂",["双侧先天性缺指畸形"]],[295124,"弃用：单侧足裂"],[295126,"弃用：双侧足裂"],[295128,"弃用：单侧手指短指",["单侧短指"]],[295130,"弃用：双侧手指短指",["双侧短指"]],[295132,"弃用：单侧脚趾短趾",["单侧短趾"]],[295134,"弃用：双侧脚趾短趾",["双侧短趾"]],[295136,"弃用：单侧手足指/趾交叉"],[295138,"弃用：双侧手足指/趾交叉"],[295140,"弃用：单侧多指畸形",["单侧多指/趾骨"]],[295142,"弃用：双侧多指畸形",["双侧多指/趾骨"]],[295144,"弃用：单侧双指拇指多指畸形",["单侧轴前多指畸形1型"]],[295146,"弃用：双侧双指拇指多指畸形",["双侧轴前多指畸形1型"]],[295148,"弃用：单侧三指拇指多指畸形",["单侧轴前多指畸形2型"]],[295150,"弃用：双侧三指拇指多指畸形",["双侧轴前多指畸形2型"]],[295152,"弃用：单侧食指多指畸形",["单侧轴前多指畸形3型"]],[295154,"弃用：双侧食指多指畸形",["双侧轴前多指畸形3型"]],[295159,"弃用：单侧多并指",["单侧轴前多指畸形4型"]],[295161,"弃用：双侧多并指",["双侧轴前多指畸形4型"]],[295163,"弃用：单侧A型后肢多指畸形"],[295165,"弃用：双侧A型后肢多指畸形"],[295167,"弃用：单侧B型后肢多指畸形"],[295169,"弃用：双侧B型后肢多指畸形"],[295171,"弃用：单侧中心性多指畸形",["单侧轴间多指畸形"]],[295173,"弃用：双侧中心性多指畸形",["双侧轴间多指畸形"]],[295175,"弃用：单侧脚趾轴前多趾畸形",["单侧双大脚趾"]],[295177,"弃用：双侧脚趾轴前多趾畸形",["双侧双大脚趾"]],[295179,"弃用：单侧趾后多指畸形"],[295181,"弃用：双侧趾后多指畸形"],[295183,"弃用：单侧中心性多趾",["单侧轴间多趾畸形"]],[295185,"弃用：双侧中心性多趾",["双侧轴间多趾畸形"]],[295187,"并指1型",["并指（趾）Weidenreich型"]],[295189,"并指2型",["并指（趾）1型 Lueken型"]],[295191,"并指3型",["并指（趾）Montagu型"]],[295193,"并指4型",["并指（趾）Castilla型"]],[295195,"联指1型",["并指（趾）Vordingborg型"]],[295197,"联指2型",["并指（趾）Debeer型"]],[295199,"联指3型",["并指（趾）Malik型"]],[295201,"先天性单侧垂直距骨"],[295203,"先天性双侧垂直距骨"],[295205,"弃用：单侧肱骨-桡骨-尺骨融合",["单侧肱桡尺骨骨性融合"]],[295207,"弃用：双侧肱骨-桡骨-尺骨融合",["双侧肱桡尺骨骨性融合"]],[295209,"弃用：单侧肱骨-桡骨融合",["单侧肱桡骨骨性融合"]],[295211,"弃用：双侧肱骨-桡骨融合",["双侧肱桡骨骨性融合"]],[295213,"单侧肱尺关节融合",["单侧肱尺骨骨性融合"]],[295215,"双侧肱骨尺骨融合",["双侧肱尺骨骨性融合"]],[295217,"单侧桡尺关节融合",["单侧桡尺骨骨性融合"]],[295219,"双侧尺桡骨融合",["双侧桡尺骨骨性融合"]],[295221,"弃用：单侧Madelung畸形"],[295223,"弃用：双侧Madelung畸形"],[295225,"单侧先天性肘关节脱位"],[295227,"双侧先天性肘关节脱位"],[295229,"先天性膝反弯"],[295232,"先天性屈膝"],[295234,"弃用：先天性单侧髌骨脱位"],[295237,"弃用：先天性双侧髌骨脱位"],[295239,"单侧手指巨指症",["单侧巨指畸形"]],[295241,"双侧手指巨指症",["双侧巨指畸形"]],[295243,"单侧巨趾症",["单侧巨趾畸形"]],[295245,"双侧巨趾症",["双侧巨趾畸形"]],[298644,"硫胺素代谢和转运障碍"],[300179,"FKBP22缺陷所致脊柱后凸Ehler-Danlos综合征",["FKBP22基因缺陷所致脊柱后凸型Ehler-Danlos综合征"]],[300284,"赖氨酰羟化酶-3缺陷所致结缔组织紊乱",["脆骨-关节挛缩-动脉破裂-听力损失综合征"]],[300293,"一过性婴儿型高甘油三酯血症",["短暂性婴儿型高甘油三酯血症伴脂肪肝"]],[300298,"伴有环状铁粒母细胞的重度先天性低色素性贫血",["重度先天性低色素性铁粒幼细胞性贫血"]],[300305,"11p15.4微重复综合征",["11p15.4三体"]],[300313,"先天性白内障-听力损失-严重发育迟缓综合征",["铜转运障碍所致致命性神经退行性病变"]],[300319,"Charcot-Marie-Tooth病2P型",["Charcot-Marie-Tooth病2P型"]],[300324,"持续性多克隆B淋巴细胞增多症",["持续性多克隆B淋巴细胞增多症伴双核淋巴细胞"]],[300333,"肾病综合征-耳聋-胫前表皮大疱性松解症综合征",["肾病综合征-听力损失-胫前表皮大疱性松解症综合征"]],[300337,"弃用：因视网膜未附着而致先天失明"],[300345,"常染色体遗传系统性红斑狼疮",["常染色体遗传系统性红斑狼疮"]],[300359,"PLCG2相关抗体缺陷与免疫失调",["家族性冷型荨麻疹伴普通变异型免疫缺陷"]],[300373,"X连锁肢端巨人症",["垂体增生所致婴儿巨人症"]],[300382,"早衰样和马凡氏样外表-脂营养不良综合征"],[300385,"垂体癌"],[300493,"Sagliker综合征"],[300496,"多发性先天性畸形-肌张力低下-癫痫综合征2型",["多发先天性畸形-肌张力低下-惊厥综合征2型"]],[300501,"眼眶疼痛-全身神经纤维瘤-马凡样外表综合征"],[300504,"甲细胞间质瘤",["甲基质棘皮瘤"]],[300512,"甲膜瘤"],[300515,"罕见的指甲肿瘤"],[300525,"假性醛固酮减少症2D型",["假性醛固酮减少症2D型"]],[300530,"假性醛固酮减少症2E型",["假性醛固酮减少症2E型"]],[300536,"DDOST-先天性糖基化障碍",["碳水化合物缺乏型糖蛋白综合症Ir型"]],[300547,"常染色体隐性遗传性婴儿高钙血症",["家族性婴儿高钙血症伴甲状旁腺激素受抑"]],[300552,"滤泡性胆管炎和胰腺炎",["滤泡性胰腺胆管炎"]],[300557,"Vater壶腹癌",["壶腹癌"]],[300564,"肺纤维化-肺气肿综合征",["肺纤维化-肺气肿综合征"]],[300570,"TUBB3基因变异所致皮质发育不全伴桥小脑发育不良"],[300573,"TUBB2B变异所致多小脑回畸形"],[300576,"少牙畸形-癌症易感综合征",["常染色体显性遗传外胚层发育不良-癌症易感性综合征"]],[300579,"葡萄球菌毒血症"],[300605,"青少年肌萎缩侧索硬化症",["青少年Lou Gehrig病"]],[300751,"LMNA基因突变所致家族性扩张型心肌病伴传导阻滞"],[300755,"核纤层蛋白病累及横纹肌"],[300758,"核纤层蛋白病伴周围神经病变"],[300763,"核纤层蛋白病伴脂肪萎缩综合征"],[300766,"核纤层蛋白病伴早衰"],[300842,"惰性B细胞非霍奇金淋巴瘤",["惰性B细胞非霍奇金淋巴瘤"]],[300846,"侵袭性B细胞非霍奇金淋巴瘤",["Aggressive B-cell NHL"]],[300849,"弥漫性中枢神经系统大B细胞淋巴瘤",["侵袭性B细胞非霍奇金淋巴瘤"]],[300857,"T细胞组织细胞丰富型大B细胞淋巴瘤",["T细胞组织细胞丰富型大B细胞淋巴瘤"]],[300865,"原发皮肤间变性大细胞淋巴瘤",["隐性遗传非典型性组织细胞增生"]],[300869,"脾弥漫性红髓小B细胞淋巴瘤",["脾弥漫性红髓淋巴瘤"]],[300878,"变异型毛细胞白血病",["网状内皮病变异型白血病"]],[300888,"慢性炎症相关弥漫大B细胞淋巴瘤",["慢性炎症相关弥漫大B细胞淋巴瘤"]],[300895,"ALK阳性间变性大细胞淋巴瘤",["ALK阳性间变性大细胞淋巴瘤"]],[300903,"ALK阴性间变性大细胞淋巴瘤",["ALK间变性大细胞淋巴瘤"]],[300912,"边缘区淋巴瘤"],[304055,"垂体瘤"],[306431,"抗干扰素-γ自身抗体的成人免疫缺陷",["成人免疫缺陷伴抗干扰素-γ自身抗体"]],[306436,"先天性蔗糖酶异麦芽糖酶缺乏症伴淀粉不耐受",["先天性蔗糖酶异麦芽糖酶吸收不良伴淀粉不耐受"]],[306446,"先天性蔗糖酶异麦芽糖酶缺乏症伴淀粉低耐受",["先天性蔗糖不耐受伴淀粉少量耐受"]],[306462,"先天性蔗糖酶异麦芽糖酶缺乏症不伴淀粉不耐受",["先天性蔗糖不耐受不伴淀粉不耐受"]],[306474,"先天性蔗糖酶异麦芽糖酶缺乏症伴淀粉和乳糖不耐受",["先天性蔗糖酶异麦芽糖酶缺乏伴淀粉和乳糖不耐受"]],[306486,"先天性蔗糖酶异麦芽糖酶缺乏症不伴蔗糖不耐受",["双糖不耐受不伴淀粉不耐受"]],[306498,"PTEN错构瘤肿瘤综合征",["PTEN错构瘤肿瘤综合征"]],[306504,"先天性间质性肺病肾病综合征并发大疱性表皮松解症",["交界性大疱性表皮松解症征累及呼吸道和肾脏"]],[306507,"LAMB2基因相关婴儿肾病综合征"],[306511,"常染色体隐性遗传痉挛性截瘫48型",["痉挛性截瘫48型"]],[306516,"家族性原发性低镁血症伴高钙尿症和肾钙质沉着症",["Michellis-Castrillo综合征"]],[306519,"遗传性原发性低镁血症伴低钙尿症"],[306522,"遗传性原发性低镁血症伴正常钙尿"],[306527,"孤立性遗传性先天性面瘫"],[306530,"先天性遗传性面瘫伴可变听力损失综合征",["先天性遗传性面瘫伴可变听力损失"]],[306539,"弃用：Kindler-Weary遗传性角皮性皮肤异色病"],[306542,"额鼻发育不良-重度小眼畸形-重度面裂综合征",["ALX1基因相关额鼻发育不良"]],[306547,"脑出血性破坏伴室管膜下钙化、白内障"],[306550,"FADD基因相关免疫缺陷"],[306553,"肌小球体病",["皮下球样囊肿"]],[306558,"原发性小头性癫痫-永久性新生儿糖尿病综合征"],[306561,"弃用：常染色体显性遗传儿童期起病的皮质性白内障",["常染色体显性遗传儿童期起病的皮质性白内障"]],[306577,"钠离子通道相关小纤维神经病变"],[306588,"常染色体显性遗传Opitz G/BBB综合征",["常染色体显性遗传Opitz BBB/G综合征"]],[306597,"X连锁Opitz G/BBB综合征",["X连锁Opitz BBB/G综合征"]],[306617,"X连锁复杂性痉挛性截瘫1型",["痉挛性截瘫1型"]],[306633,"胆囊及肝外胆道罕见肿瘤",["胆囊及肝外胆道罕见肿瘤"]],[306636,"肝脏及肝内胆道罕见肿瘤",["肝脏及肝内胆道罕见肿瘤"]],[306640,"罕见的医品中毒"],[306644,"器官移植术后并发症"],[306648,"非感染性前葡萄膜炎",["非感染性虹膜睫状体炎"]],[306658,"血磷正常性家族性肿瘤样钙沉着症"],[306661,"家族性瘤样钙化高磷酸盐血症/高磷酸盐血症性骨肥厚综合征",["高钙血症性肿瘤性钙质沉着症"]],[306666,"神经退行性病变致罕见帕金森综合征"],[306669,"偏侧帕金森综合征",["偏侧帕金森综合征"]],[306674,"KUFOR-RAKEB综合征",["PARK9"]],[306679,"中毒致罕见帕金森综合征"],[306682,"锰中毒",["锰中毒"]],[306686,"一氧化碳中毒致迟发性脑病",["一氧化碳中毒所致迟发性脑病"]],[306692,"氰化物引起的帕金森综合症-肌张力障碍"],[306695,"神经退行性病变所致多种运动障碍"],[306708,"额颞叶神经退行性变性伴运动障碍"],[306712,"罕见震颤症"],[306715,"罕见舞蹈运动障碍"],[306719,"神经退行性疾病伴舞蹈病"],[306727,"霍乱感染后自身免疫性疾病"],[306731,"Sydenham舞蹈病"],[306734,"原发性肌张力障碍DYT21型",["DYT21型"]],[306741,"偏身性肌张力障碍-半侧颜面萎缩综合征",["偏身性肌张力障碍-半侧颜面萎缩综合征"]],[306747,"罕见肌阵挛"],[306750,"原发性肌阵挛"],[306753,"肌阵挛为主的罕见病"],[306756,"肌阵挛为主的癫痫和/或共济失调"],[306759,"肌阵挛为主的非进行性癫痫和/或共济失调"],[306762,"弃用：肌阵挛为主要特征进行性癫痫和/或共济失调"],[306765,"刻板运动"],[306768,"罕见阵发性运动障碍"],[306773,"过度惊吓反应症"],[306776,"散发的过度惊吓反应症"],[307052,"罕见遗传性帕金森病",["Rare genetic hypokinetic movement disorder"]],[307055,"遗传性神经退行性病变致罕见帕金森综合征"],[307058,"遗传性神经退行性病变所致多种运动障碍"],[307061,"罕见遗传性震颤障碍"],[307064,"罕见遗传性肌阵挛"],[307067,"肌阵挛为主的罕见遗传病"],[307141,"弥漫性掌跖角化病",["弥漫性掌跖角化病"]],[307148,"孤立性弥漫性掌跖角化病",["孤立性弥漫性掌跖角化病"]],[307711,"弥漫性掌跖角化症为主要特征的疾病",["弥漫性掌跖角化症为主要特征疾病"]],[307766,"卷发-肢端皮肤角化-龋齿综合征",["卷发-肢端皮肤角化-龋齿综合征"]],[307773,"常染色体显性遗传弥漫性残毁性掌跖角化病",["常染色体显性遗传弥漫性残毁性掌跖角化病"]],[307804,"弥漫性掌跖角化症为主要特征常染色体隐性遗传病",["弥漫性掌跖角化症为为主要特征常染色体隐性遗传病"]],[307837,"局灶性掌跖角化病",["局灶性掌跖角化病"]],[307846,"孤立性局灶性掌跖角化病",["孤立性局灶性掌跖角化病"]],[307871,"局灶性掌跖角化症为主要特征的疾病",["局灶性掌跖角化症为主要特征的疾病"]],[307936,"少毛症-骨质溶解-牙周炎-掌跖角化综合征",["少毛症-骨质溶解-牙周炎-掌跖角化综合征"]],[307967,"点状掌跖角化病",["点状掌跖角化病"]],[307995,"边缘丘疹状掌跖角化病",["边缘丘疹状掌跖角化病"]],[308013,"局灶性肢端角化过度",["点状掌跖角化病3型不伴类弹性纤维病"]],[308023,"点状掌跖角化病为主要特征的疾病",["点状掌跖角化病为主要特征的疾病"]],[308031,"点状掌跖角化病为主要特征常染色体显性遗传疾病",["点状掌跖角化病为主要特征常染色体显性遗传疾病"]],[308041,"点状掌跖角化病为主要特征常染色体隐性遗传疾病",["点状掌跖角化病为主要特征常染色体隐性遗传疾病"]],[308166,"变异性红皮角化病"],[308380,"乙钴胺缺乏cblDv1型",["功能性甲硫氨酸合酶缺乏cblDv1型"]],[308386,"钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症A型",["A型MOCOD"]],[308393,"钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症B型",["B型MOCOD"]],[308400,"钼辅助因子缺乏症所致亚硫酸盐氧化酶缺乏症C型",["C型MOCOD"]],[308407,"β和ω氨基酸代谢障碍"],[308410,"支链酮酸脱氢酶激酶缺乏症所致孤独症-癫痫综合征"],[308425,"甲基丙二酰辅酶A差向异构酶缺乏所致乙基丙二酸血症",["甲基丙二酰辅酶A异构酶缺乏所致甲基丙二酸尿症"]],[308442,"维生素B12敏感甲基丙二酸血症cblDv2型",["维生素B12敏感甲基丙二酸尿症cblDv2型"]],[308448,"氨基酰化酶缺乏症"],[308451,"中性氨基酸转移紊乱"],[308459,"糖酵解紊乱"],[308463,"果糖代谢紊乱"],[308467,"半乳糖代谢紊乱"],[308473,"红细胞半乳糖异构酶缺乏症",["红细胞尿苷二磷酸半乳糖4异构酶缺乏症"]],[308487,"全谱半乳糖异构酶缺乏症",["尿苷二磷酸半乳糖4异构酶完全缺乏症"]],[308520,"糖原合成酶缺乏致糖原贮积病",["糖原合成酶缺乏所致糖原贮积病"]],[308552,"婴儿起病的酸性麦芽糖酶缺乏致糖原贮积病",["婴儿起病的酸性麦芽糖酶缺乏所致糖原贮积病"]],[308573,"弃用：青少年起病的酸性麦芽糖酶缺乏致糖原贮积病",["青少年起病的庞贝氏症"]],[308604,"弃用：成年起病的酸性麦芽糖酶缺乏致糖原贮积病",["成年起病的庞贝氏症"]],[308621,"进行性肝脏型糖原分支酶缺乏致糖原贮积症",["进行性肝型GBE缺乏"]],[308638,"非进行性肝脏型糖原分支酶缺乏致糖原贮积症",["非进行性肝型GSD，IV型"]],[308655,"围产期致命性神经肌肉型糖原分支酶缺乏致糖原贮积症",["围产期致命性神经肌肉型糖原分支酶缺乏所致糖原贮积症"]],[308670,"先天性神经肌肉型糖原分支酶缺乏致糖原贮积症",["先天性神经肌肉型GSDIV"]],[308684,"儿童肝脏肌肉型糖原分支酶缺乏致糖原贮积症",["儿童肝脏肌肉型糖原分支酶缺乏致GSD"]],[308698,"儿童神经肌肉型糖原分支酶缺乏致糖原贮积症",["儿童神经肌肉型糖原分支酶缺乏致糖原贮积症"]],[308712,"成人神经肌肉型糖原分支酶缺乏致糖原贮积症",["成人神经肌肉型糖原分支酶缺乏症"]],[308993,"甘油激酶缺乏症"],[308998,"乙醛酸代谢紊乱"],[309001,"碳水化合物吸收和转运障碍"],[309005,"脂代谢紊乱"],[309015,"家族性脂蛋白脂酶缺乏症",["脂蛋白脂酶缺乏症"]],[309020,"家族性载脂蛋白C-II缺乏症",["家族性载脂蛋白C-II缺乏症"]],[309025,"甲羟戊酸激酶缺乏"],[309028,"脂质吸收-转运障碍"],[309031,"胰三酰甘油脂酶缺乏",["胰甘油三酯脂酶缺乏"]],[309108,"胰复合脂酶缺乏"],[309111,"胰脂酶联合大肠酶缺乏症"],[309115,"脂肪酸氧化与生酮障碍"],[309120,"酰基辅酶A脱氢酶缺乏症"],[309127,"3-羟基酰基-CoA脱氢酶缺乏症"],[309130,"肉碱循环-运输紊乱"],[309133,"其他脂肪酸氧化紊乱所致代谢性疾病"],[309136,"呼吸链复合物装配或成熟缺陷所致线粒体病"],[309139,"弃用：由于呼吸链复合体的组装或成熟缺陷所致线粒体紊乱",["线粒体DNA组装或成熟缺陷所致线粒体紊乱"]],[309144,"神经节苷脂贮积症"],[309147,"高β-丙氨酸血症",["高丙氨酸血症"]],[309152,"GM2神经节苷脂贮积症"],[309155,"婴儿型桑德霍夫病",["婴儿型己糖胺酶A和B缺乏"]],[309162,"青少年型桑霍夫病",["青少年型己糖胺酶A和B缺乏"]],[309169,"成人型桑德霍夫病",["成人型己糖胺酶A和B缺乏"]],[309178,"B型婴儿型泰萨克斯病",["婴儿型B型GM2神经节苷脂贮积症"]],[309185,"B型青少年型泰萨克斯病",["青少年型B型GM2神经节苷脂贮积症"]],[309192,"B型成人型泰萨克斯病",["成人型B型GM2神经节苷脂贮积症"]],[309239,"B1型泰萨克斯病",["B1型己糖胺酶A缺乏"]],[309246,"AB型GM2神经节苷脂贮积症",["己糖胺酶激活剂缺乏"]],[309252,"鞘脂C缺乏症所致非典型戈谢病"],[309256,"婴儿晚期型异染性脑白质营养不良",["婴儿晚期型芳香硫酸酯酶A缺乏"]],[309263,"青少年型异染性脑白质营养不良",["青少年型芳香硫酸酯酶A缺乏"]],[309271,"成人型异染性脑白质营养不良",["成人型芳香硫酸酯酶A缺乏"]],[309279,"糖蛋白病"],[309282,"婴儿型α-甘露糖苷贮积症",["婴儿型溶酶体α-D-甘露糖苷贮积症"]],[309288,"成人型α-甘露糖苷贮积症",["成人型溶酶体α-D-甘露糖苷贮积症"]],[309294,"唾液酸沉积病"],[309297,"黏多糖贮积症4A型",["N-乙酰半乳糖胺-6-硫酸盐硫酸酯酶缺乏"]],[309310,"黏多糖贮积症4B型",["β-D-半乳糖苷酶缺乏"]],[309319,"唾液酸代谢紊乱"],[309324,"婴儿型游离唾液酸贮积病",["ISSD"]],[309331,"中度重型唾液酸贮积病"],[309334,"唾液酸贮积病"],[309337,"溶酶体糖原贮积病"],[309340,"溶酶体相关细胞器紊乱"],[309347,"蛋白N-糖基化紊乱"],[309447,"蛋白O-糖基化紊乱"],[309450,"O-木糖基聚糖合成障碍"],[309458,"O-N-乙酰半乳糖胺基聚糖合成障碍"],[309463,"O-木糖基/ N-乙酰半乳糖胺基聚糖合成障碍"],[309469,"O-甘露糖聚糖合成障碍"],[309505,"岩藻糖聚糖合成障碍"],[309515,"糖鞘脂和糖基磷脂酰肌醇锚糖基化障碍",["糖鞘脂和GPI锚糖基化障碍"]],[309526,"多发性糖基化障碍"],[309568,"保守寡聚高尔基复合体缺陷",["COG复合体缺陷"]],[309778,"V-ATP酶缺陷"],[309789,"肢根斑点状软骨发育异常1型"],[309796,"肢近端型点状软骨发育不良2型"],[309803,"肢近端型点状软骨发育不良3型"],[309810,"α-，β-，ω-过氧化物酶氧化紊乱"],[309813,"卟啉与血红素代谢紊乱"],[309816,"胆红素代谢排泄障碍"],[309819,"蝶呤代谢紊乱"],[309824,"代谢物吸收-转运障碍"],[309827,"维生素和非蛋白质辅因子吸收-转运障碍"],[309830,"儿茶酚胺合成障碍"],[309833,"其他维生素和辅助因子代谢-转运障碍"],[309836,"矿物质吸收-运输障碍"],[309839,"铜代谢紊乱"],[309842,"铁代谢和转运障碍"],[309845,"锌代谢与转运障碍"],[309848,"镁转运障碍"],[309851,"锰迁移障碍"],[309854,"肝硬化-肌张力障碍-红细胞增多症-高锰血症综合征"],[310050,"获得性免疫缺陷"],[313772,"早发性痉挛性共济失调-肌阵挛性癫痫-神经病变综合征",["AFG3L2基因相关痉挛性共济失调-肌阵挛性癫痫-神经病变综合征"]],[313781,"20p13微缺失综合征",["20p末端着丝粒缺失综合征"]],[313795,"贾瓦德综合征"],[313800,"视神经水肿-脾肿大综合征"],[313808,"遗传性弥漫性白质脑病伴轴索球样变与神经胶质色素沉着",["成人发病的脑白质病伴轴突球体和色素性胶质细胞"]],[313838,"Coats plus综合征",["脑视网膜微血管病伴钙化和囊肿"]],[313846,"家族性皮肤毛细血管扩张症和癌综合征"],[313850,"婴儿小脑-视网膜变性"],[313855,"FGFR2基因相关性弯曲骨发育不良综合征",["围产期致命性弯曲骨发育不良"]],[313884,"12p12.1微缺失综合征",["12p12.1单体"]],[313892,"SOX5基因所致发育和言语迟滞"],[313906,"先天性胰腺囊肿",["新生儿先天性胰腺囊肿"]],[313920,"EB病毒相关性胃癌",["EBV相关性胃癌"]],[313936,"PENS综合征",["丘疹性表皮痣伴“天际线”样基底细胞层综合征"]],[313947,"2q23.1微重复综合征",["2q23.1三体"]],[314002,"挛缩-颈蹼-小颌畸形-乳头发育不全综合征",["Dinno综合征"]],[314017,"特发性线形间质性角膜炎"],[314022,"胃腺癌和胃近端息肉",["家族性基底腺息肉伴胃癌"]],[314029,"高骨密度成骨不全",["高骨密度OI病"]],[314034,"7p22.1微重复综合征",["7p22.1三体"]],[314041,"马凡体征-腹股沟疝-骨龄提前综合征"],[314051,"脑白质病-丘脑脑干异常-高乳酸综合征",["联合氧化磷酸化缺陷12型"]],[314373,"鸟苷酸环化酶2C亢进慢性婴儿腹泻"],[314376,"鸟苷酸环化酶2C缺乏所致新生儿肠梗阻",["鸟苷酸环化酶2C缺乏所致胎粪性肠梗阻"]],[314381,"遗传性感觉自主神经病6型",["遗传性感觉自主神经病VI型"]],[314389,"Xq12-q13.3重复综合征",["Xq12-q13.3重复"]],[314394,"身材矮小-甲发育不良-面部畸形-毛发稀少症",["SOFT综合征"]],[314399,"常染色体显性遗传骨髓发育不全和增生异常",["常染色体显性遗传再生障碍性贫血和骨髓增生异常"]],[314404,"常染色体显性遗传小脑共济失调、耳聋和嗜睡症",["常染色体显性遗传小脑共济失调、听力丧失和嗜睡综合征"]],[314419,"成釉细胞瘤"],[314422,"成釉细胞癌"],[314425,"罕见牙源性肿瘤"],[314432,"半月线疝-隐睾综合征"],[314451,"Meigs综合征",["Demons-Meigs综合征"]],[314459,"假性Meigs综合征",["Pseudo-Demons-Meigs综合征"]],[314466,"非典型Meigs综合征",["非典型Demons-Meigs综合征"]],[314473,"卵巢纤维瘤"],[314478,"卵巢纤维膜瘤"],[314485,"年轻成人起病遗传性远端运动神经元病",["常染色体隐性远端脊髓肌肉萎缩5型"]],[314555,"颅面发育不良-骨质减少综合征",["Hamamy综合征"]],[314566,"原发性进行性言语失用",["PPAOS"]],[314572,"常染色体隐性遗传脑白质病-缺血性脑卒中-视网膜色素变性综合征"],[314575,"智力障碍-肌张力低下-短头畸形-幽门狭窄-隐睾综合征"],[314585,"15q生长过度综合征"],[314588,"15q远端四体",["15q25-末端四体"]],[314597,"Chudley-McCullough综合征"],[314603,"常染色体隐性遗传痉挛性共济失调3型",["常染色体隐性遗传痉挛性共济失调3型"]],[314613,"生长性畸胎瘤综合征"],[314621,"垂体重复",["双垂体附加综合征"]],[314629,"CLN11病"],[314632,"ATP13A2基因相关性幼年神经元蜡样脂褐质贮积症",["幼年帕金森病-神经元蜡样脂褐质贮积症"]],[314637,"线粒体肥大型心肌病伴MTO1基因缺陷所致乳酸酸中毒",["联合氧化磷酸化缺陷10型"]],[314647,"非进行性小脑共济失调伴智力障碍"],[314652,"Aβ2M变异的淀粉样变",["常染色体显性β2-微球蛋白淀粉样沉积"]],[314655,"5q31.3微缺失所致重型新生儿低张力-惊厥-脑病综合征",["5q31.3微缺失综合征"]],[314662,"节段进行性过度生长综合征伴纤维脂肪增生"],[314667,"TMEM165基因型先天性糖基化障碍",["糖缺乏性糖蛋白综合征IIk型"]],[314679,"脑筋膜关节综合征",["Van Maldergem综合征"]],[314684,"原发性骨淋巴瘤"],[314689,"STK4基因缺陷所致联合免疫缺陷",["STK4基因缺陷所致CID"]],[314697,"后天性脑穿通畸形"],[314701,"原发性系统性淀粉样变",["系统性AL淀粉样变"]],[314709,"原发性局灶性淀粉样变",["局灶性AL淀粉样变"]],[314718,"纤维蛋白-4缺乏所致致死性动脉病综合征"],[314721,"SMOC2基因缺陷所致非典型牙本质发育不良",["牙本质发育不良1型伴牙过小和畸形"]],[314749,"Cushing综合征为主要特征罕见病"],[314753,"功能性垂体腺瘤",["分泌活跃性垂体腺瘤"]],[314759,"混合性功能性垂体腺瘤",["混合性分泌性垂体腺瘤"]],[314769,"体细胞生长激素瘤",["生长激素和泌乳素共分泌性垂体腺瘤"]],[314777,"家族性孤立性垂体腺瘤",["FIPA病"]],[314786,"无症状垂体腺瘤"],[314790,"垂体无功能腺瘤"],[314795,"SHOX基因相关身材矮小"],[314802,"GHR基因部分缺陷所致身材矮小",["生长激素受体部分缺陷所致身材矮小"]],[314811,"GHSR基因缺陷所致身材矮小",["生长激素促分泌素受体缺陷所致身材矮小"]],[314822,"原发性肾小管性酸中毒"],[314889,"常染色体显性遗传近端肾小管性酸中毒",["常染色体显性pRTA"]],[314911,"重型 Canavan病",["婴儿 Canavan病"]],[314918,"轻型 Canavan病",["青少年 Canavan病"]],[314928,"欧洲非罕见：正常压力脑积水",["Chronic adult hydrocephalus"]],[314946,"弃用：蟾分枝杆菌感染"],[314950,"原发性嗜酸性粒细胞增多综合征",["肿瘤性嗜酸性粒细胞增多综合征"]],[314962,"继发性嗜酸性粒细胞增多综合征",["反应性嗜酸性粒细胞增多综合征"]],[314970,"淋巴细胞性嗜酸性粒细胞增多综合征",["淋巴细胞变异性HES"]],[314978,"X连锁非进行性小脑共济失调"],[314993,"X连锁非进行性小脑共济失调"],[315306,"21羟化酶缺乏所致经典失盐型先天性肾上腺增生症",["21羟化酶缺乏所致经典失盐型CAH"]],[315311,"21羟化酶缺乏所致经典单纯男性化型先天性肾上腺增生症",["21羟化酶缺乏所致经典单纯男性化型CAH"]],[315350,"自身免疫性疾病累及皮肤"],[316226,"痉挛性共济失调",["SPAX"]],[316235,"常染色体显性遗传痉挛性共济失调",["常染色体显性SPAX"]],[316240,"常染色体隐性遗传痉挛性共济失调",["常染色体隐性SPAX"]],[316244,"12号染色体短臂部分缺失",["12号染色体短臂部分单体"]],[317416,"T-B+ 重症联合免疫缺陷",["T-B+ SCID"]],[317419,"T-B- 重症联合免疫缺陷",["T-B- SCID"]],[317425,"DNA-PKcs缺陷所致重症联合免疫缺陷",["DNA-PKcs缺陷所致SCID"]],[317428,"ORAI1基因缺陷所致联合免疫缺陷",["ORAI1基因缺陷所致CID"]],[317430,"STIM1基因缺陷所致联合免疫缺陷",["SIM1基因缺陷所致CID"]],[317473,"IKZF1基因突变所致全血细胞减少症",["IKAROS缺陷所致联合免疫缺陷"]],[317476,"镁缺乏、EB病毒感染及肿瘤的X染色体连锁免疫缺陷病",["MAGT1基因缺陷所致联合免疫缺陷"]],[319160,"先天性中央核和非典型核肌病",["中心核肌病4型"]],[319171,"17p13.1远端微缺失综合征",["17p13.1远端缺失"]],[319182,"Wiedemann-Steiner综合征",["多毛-身材矮小-面部畸形-发育迟缓综合征"]],[319189,"家族性皮质肌阵挛"],[319192,"间脑-中脑连接发育不良"],[319195,"软骨外胚层发育不良伴夜盲"],[319199,"常染色体隐性遗传痉挛性截瘫53型",["SPG53型"]],[319205,"双侧肾上腺大出血",["双侧肾上腺出血"]],[319213,"卢霍出血热",["赞比亚出血热"]],[319218,"埃博拉出血热",["埃博拉病毒病"]],[319223,"阿根廷出血热",["鸠宁出血热"]],[319229,"玻利维亚出血热",["马秋博出血热"]],[319234,"委内瑞拉出血热",["瓜纳瑞托出血热"]],[319239,"巴西出血热",["萨比亚出血热"]],[319244,"查帕雷出血热"],[319247,"汉坦病毒肺综合征"],[319251,"裂谷热"],[319254,"凯萨努森林病",["凯萨努出血热"]],[319266,"鄂木斯克出血热"],[319276,"透明细胞肾癌",["透明细胞肾细胞腺癌"]],[319287,"低度恶性多囊肾肿瘤",["多男性透明细胞腺癌"]],[319298,"乳头状肾细胞癌",["乳头状肾细胞腺癌"]],[319303,"嫌色性肾细胞癌",["嫌色性肾细胞腺癌"]],[319308,"MiT家族易位性肾细胞癌",["MITF/TFE易位相关癌"]],[319314,"弃用：肾细胞癌合并神经母细胞瘤",["神经母细胞瘤后肾细胞癌"]],[319319,"肾髓样癌"],[319322,"肾脏黏液小管状和梭形细胞癌"],[319325,"管状囊性肾癌"],[319328,"遗传性肾癌易感综合征"],[319332,"常染色体隐性遗传多发性先天性肌源性关节病",["SYNE1基因相关多发性先天性关节病"]],[319340,"Carney综合征-牙关紧闭-假屈曲指综合征",["Carney综合征变体"]],[319462,"BRCA2双等位基因突变所致遗传性癌症易感综合征"],[319465,"遗传性急性髓系白血病",["单纯性家族性急性髓系白血病"]],[319480,"CEBPA体细胞CEBPA基因突变急性髓系白血病",["AML伴CEBPA基因体细胞突变"]],[319487,"家族性乳头状或滤泡性甲状腺癌",["家族性单纯性非髓性甲状腺癌"]],[319494,"家族性非髓样甲状腺癌"],[319504,"复合氧化磷酸化缺陷8型",["COXPD8"]],[319509,"复合氧化磷酸化缺陷9型",["COXPD9"]],[319514,"复合氧化磷酸化缺陷型13型",["COXPD13"]],[319519,"复合氧化磷酸化缺陷14型",["COXPD14"]],[319524,"复合氧化磷酸化缺陷15型",["COXPD15"]],[319535,"完全缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病",["完全缺陷所致常染色体隐性遗传MSMD"]],[319539,"部分缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病",["部分缺陷所致常染色体隐性遗传MSMD"]],[319543,"部分缺陷所致孟德尔常染色体显性遗传易感分枝杆菌病",["部分缺陷所致常染色体显性遗传MSMD"]],[319547,"IFN-γR2完全缺陷所致孟德尔遗传易感分枝杆菌病",["干扰素γ受体2完全缺陷所致MSMD"]],[319552,"IL12RB1基因完全缺陷所致孟德尔遗传易感分枝杆菌病",["白介素12受体β1完全缺陷所致孟德尔遗传易感"]],[319558,"IL12B基因完全缺陷所致孟德尔遗传易感分枝杆菌病",["白介素12B完全缺陷所致MSMD"]],[319563,"ISG15基因完全缺陷所致孟德尔遗传易感分枝杆菌病",["ISG15基因完全缺陷所致MSMD"]],[319569,"IFNγR1基因部分缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病",["常染色体隐性遗传干扰素γ受体1部分缺陷所致易感分枝杆菌病"]],[319574,"IFNγR2基因部分缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病",["常染色体隐性遗传干扰素γ受体2部分缺陷所致易感分枝杆菌病"]],[319581,"IFNγR1基因部分缺陷所致孟德尔常染色体显性遗传易感分枝杆菌病",["常染色体显性遗传干扰素γ受体1部分缺陷所致易感分枝杆菌病"]],[319589,"IFNγR2基因部分缺陷所致孟德尔常染色体显性遗传易感分枝杆菌病",["常染色体显性遗传干扰素γ受体2部分缺陷所致易感分枝杆菌病"]],[319595,"STAT1基因部分缺陷所致孟德尔遗传易感分枝杆菌病",["STAT1基因部分缺陷所致MSMD"]],[319600,"IRF8基因部分缺陷所致孟德尔遗传易感分枝杆菌病",["干扰素调节因子8部分缺陷所致MSMD"]],[319605,"孟德尔X连锁遗传易感分枝杆菌病",["X连锁MSMD"]],[319612,"IKBKG基因部分缺陷所致孟德尔X连锁遗传易感分枝杆菌病",["IKBKG基因缺陷所致X连锁MSMD"]],[319623,"CYBB基因缺陷所致孟德尔X连锁遗传易感分枝杆菌病",["CYBB基因缺陷所致X连锁MSMD"]],[319635,"皮肤淀粉样变性",["皮肤异色病样淀粉样变"]],[319640,"视网膜黄斑营养不良2型",["MCDR2"]],[319646,"PGM1基因型先天性糖基化障碍",["PGM1基因相关性先天性糖基化障碍"]],[319651,"二氢叶酸还原酶缺乏所致巨幼细胞性贫血",["二氢叶酸还原酶缺陷"]],[319658,"欧洲非罕见：原因不明智力障碍"],[319667,"原发性结膜淋巴瘤",["Primary lymphoid conjunctival tumor"]],[319671,"Alazami型小头原发性侏儒症",["Alazami综合征"]],[319675,"Dauber型小头原发性侏儒症"],[319678,"脑病-肥厚型心肌病-肾小管疾病综合征"],[319681,"欧洲非罕见：成年后乳糖酶存留"],[319684,"欧洲非罕见：肌苷三磷酸焦磷酸酶缺乏症"],[319691,"欧洲非罕见：protan型部分色盲",["protan型部分性全色盲"]],[319698,"欧洲非罕见：deutan型部分色盲",["deutan型部分性全色盲"]],[319705,"欧洲非罕见：帕金森病"],[319719,"儿童自炎综合征"],[320317,"弃用：唇裂外胚层发育不良综合征"],[320332,"X连锁单纯性痉挛性截瘫"],[320335,"单纯性或复杂性遗传性痉挛性截瘫",["单纯性或复杂性家族性痉挛性截瘫"]],[320342,"单纯性或复杂性常染色体显性遗传痉挛性截瘫",["Pure or complicated autosomal dominant spastic paraplegia"]],[320346,"单纯性或复杂性常染色体显性遗传痉挛性截瘫",["Pure or complicated autosomal recessive spastic paraplegia"]],[320350,"单纯性或复杂性X连锁痉挛性截瘫",["Pure or complicated X-linked spastic paraplegia"]],[320355,"常染色体显性遗传痉挛性截瘫41型",["SPG41"]],[320360,"MT-ATP6基因相关的线粒体痉挛性截瘫",["母系遗传痉挛性截瘫"]],[320365,"常染色体显性遗传痉挛性截瘫36型",["SPG36"]],[320370,"常染色体隐性遗传痉挛性截瘫43型",["SPG43"]],[320375,"常染色体隐性遗传痉挛性截瘫55型",["SPG55"]],[320380,"常染色体隐性遗传痉挛性截瘫54型",["SPG54"]],[320385,"TECPR2基因突变所致遗传性感觉和自主神经病变",["常染色体隐性遗传痉挛性截瘫49型"]],[320391,"常染色体隐性遗传痉挛性截瘫46型",["SPG46"]],[320396,"常染色体隐性遗传痉挛性截瘫45型",["常染色体隐性遗传痉挛性截瘫65型"]],[320401,"常染色体隐性遗传痉挛性截瘫44型",["SPG44"]],[320406,"痉挛性截瘫-视神经萎缩-神经病综合征",["SPOAN综合征"]],[320411,"常染色体隐性遗传痉挛性截瘫56型",["SPG56"]],[322126,"造血和淋巴组织遗传性肿瘤"],[324262,"MGLUR1基因缺陷所致常染色体隐性遗传先天性小脑共济失调",["常染色体隐性遗传脑桥小脑共济失调13型"]],[324290,"早发性拉福拉体病"],[324294,"T细胞免疫缺陷伴疣状表皮发育不良",["RHOH缺陷所致T细胞免疫缺陷"]],[324299,"多发性副神经节瘤伴红细胞增多症",["副神经节瘤-生长抑素瘤-红细胞增多综合征"]],[324307,"重型胫骨外侧弯曲伴身材矮小"],[324313,"9p13微缺失综合征",["9p13单体"]],[324321,"窦房结功能障碍与耳聋",["窦房结功能障碍与听力丧失"]],[324353,"先天性跟腱"],[324364,"混合性硬化性骨营养不良伴骨外表现"],[324381,"遗传性包涵体肌病4型",["HIBM4"]],[324410,"X连锁智力障碍-心脏扩大-充血性心力衰竭综合征"],[324416,"肌肉肥大-肝肿大-羊水过多综合征"],[324422,"ALG13基因型先天性糖基化障碍",["先天性糖基化障碍Is型"]],[324442,"常染色体隐性遗传轴索性神经病伴神经性肌强直",["常染色体隐性夏科-马里-图斯病2型伴神经性肌强直"]],[324525,"线粒体DNA突变所致肥厚型心肌病和肾小管性疾病",["mtDNA突变所致肥厚型心肌病和肾小管性疾病"]],[324530,"自身炎症-PLCG2基因相关抗体缺陷-免疫失调",["APLAID"]],[324535,"复合氧化磷酸化缺陷11型",["COXPD11"]],[324540,"失音-耳聋-视网膜营养不良-双拇裂-智力障碍综合征",["失音-听力丧失-视网膜营养不良-双拇趾-智力障碍综合征"]],[324561,"皮肤色素减退-点状掌跖角化病综合征",["皮肤色素减退和手掌足底点状角化病"]],[324569,"脑桥小脑发育不全8型",["CHMP1基因突变所致脑桥小脑发育不全"]],[324575,"HNF1A基因缺陷所致高胰岛素血症",["HNF1A基因缺陷所致高胰岛素血症"]],[324581,"良性撒马利亚先天性肌病"],[324585,"常染色体显性遗传中间型夏科-马里-图斯症伴神经性疼痛",["Autosomal dominant intermediate CMT disease with neuropathic pain"]],[324588,"家族性运动障碍与面肌颤搐",["FDFM"]],[324601,"X连锁腭裂与舌系带短缩"],[324604,"经典型多发性肌病",["经典型多微小轴空病"]],[324611,"KIF5A基因突变所致常染色体显性遗传夏科-马里-图斯症2型",["KIF5A基因突变所致夏科-马里-图斯病2型"]],[324625,"基孔肯雅热"],[324632,"Hendra病毒感染"],[324636,"自体红细胞致敏综合征",["疼痛性瘀斑综合征"]],[324648,"侵袭性非伤寒沙门氏菌病",["iNTS病"]],[324703,"AβL34V淀粉样变性",["Piedmont型遗传性脑出血伴淀粉样变性"]],[324708,"Iowa型AβL34V淀粉样变性",["Iowa型遗传性脑出血伴淀粉样变性"]],[324713,"意大利型AβL34V淀粉样变性",["意大利型遗传性脑出血伴淀粉样变性"]],[324718,"AβA21G淀粉样变性",["Flemish型遗传性脑出血伴淀粉样变性"]],[324723,"Arctic型Aβ淀粉样变性",["北极型遗传性脑出血伴淀粉样变性"]],[324737,"SRD5A3基因型先天性糖基化障碍",["先天性糖基化障碍Iq型"]],[324761,"小头畸形原发性侏儒"],[324764,"毛发-鼻-指(趾)综合征"],[324767,"非家族性罕见病伴扩张型心肌病"],[324924,"遗传性周期性发热综合征"],[324927,"化脓性自身炎症综合征"],[324930,"肉芽肿性自身炎症综合征"],[324933,"混合性自身炎症和自身免疫综合征"],[324936,"未分类的自身炎症综合征"],[324939,"儿童周期性发热综合征"],[324942,"儿童化脓性自体炎症综合征"],[324950,"儿童肉芽肿性自身炎症综合征"],[324953,"未分类的儿童自身炎症综合征"],[324960,"儿童不明原因周期性发热综合征"],[324964,"慢性复发性多灶性骨髓炎",["CNO/CRMO病"]],[324972,"MAGIC综合征",["口腔和生殖器溃疡-软骨发炎综合征"]],[324977,"蛋白酶体相关自身炎症综合征",["自身炎症-脂质营养不良-皮肤病综合征"]],[324982,"弃用：成人型SAPHO综合征",["成人型滑膜炎-痤疮-骨肥大-骨炎综合征"]],[324989,"弃用：青少年型SAPHO综合征",["青少年型滑膜炎-痤疮-骨肥大-骨炎综合征"]],[324999,"自身炎症,脂肪营养不良和皮肤病综合征",["关节挛缩-肌肉萎缩-小细胞性贫血-脂膜炎相关脂质营养不良综合征"]],[325004,"自身炎症,脂肪营养不良和皮肤病综合征",["慢性非典型性中性粒细胞性皮肤病-脂质营养不良-体温升高综合征"]],[325055,"46，XX性腺发育不全"],[325061,"46，XX胎儿胎盘雄激素过量所致性发育障碍",["46，XX胎儿胎盘雄激素过量所致DSD"]],[325093,"46，XX内源性母源性雄激素所致性发育障碍",["46，XX内源性母源性雄激素致DSD"]],[325099,"46，XX外源性母源性雄激素所致性发育障碍",["46，XX外源性母源性雄激素致DSD"]],[325109,"46，XX性发育障碍综合征",["46,XXDSD综合征"]],[325118,"46，XY性腺发育障碍"],[325124,"睾丸发育不全",["双侧无睾症"]],[325345,"46，XY性发育障碍卵巢睾丸病",["46，XY卵巢睾丸病DSD"]],[325351,"46，XY内分泌源性发育障碍",["46，XY内分泌源性DSD"]],[325357,"46，XY雄激素分泌障碍性发育障碍",["46，XY雄激素分泌障碍性DSD"]],[325448,"LHB缺乏所致睾丸莱迪氏细胞发育不良",["46，XY 黄体生成素β亚单位缺乏所致性发育障碍"]],[325511,"胆固醇合成缺陷所致性发育障碍",["46，XY胆固醇合成缺陷所致DSD"]],[325524,"经典STAR缺乏所致先天性类脂性肾上腺增生症",["经典型CLAH"]],[325529,"非经典STAR缺乏所致先天性类脂性肾上腺增生症"],[325537,"46，XY母体接触内分泌干扰物致性发育障碍",["46，XY母体接触内分泌干扰物致DSD"]],[325546,"性染色体相关性发育障碍",["性染色体相关DSD"]],[325620,"妇科相关性发育障碍",["妇科相关DSD"]],[325632,"46，XY妇科相关性发育疾病",["46，XY妇科相关DSD"]],[325638,"妇科相关性发育障碍综合征",["妇科相关DSD综合征"]],[325665,"遗传性妇科相关性发育障碍",["遗传性妇科相关DSD"]],[325690,"遗传性性发育障碍",["遗传性DSD"]],[325697,"遗传性46，XX性发育障碍",["遗传性46，XXDSD"]],[325706,"遗传性46，XY性发育障碍",["遗传性46，XYDSD"]],[325713,"遗传性内分泌源性46，XY性发育障碍",["遗传性内分泌源性46，XYDSD"]],[328269,"弃用：罕见骨病伴肢体减少缺陷",["罕见骨病伴肢体发育不全"]],[329173,"自身炎症综合征伴化脓性细菌感染和支链淀粉病"],[329178,"先天性肌营养不良伴智障和严重癫痫",["糖蛋白碳水化合物缺陷综合征Iu型"]],[329191,"身材高大-脊柱侧凸-巨趾综合征",["身材高大-脊柱侧凸-拇趾巨趾综合征"]],[329195,"发育迟缓伴自闭症谱系障碍和步态不稳定",["发育迟缓伴ASD和步态不稳"]],[329206,"先天性肌营养不良-肌肉肥大-重度智障综合征",["POMT1所致先天性肌营养不良-肌肉肥大-重度智障综合征"]],[329211,"新生血管性炎性玻璃体视网膜病变",["ADNIV"]],[329217,"脑静脉窦血栓形成",["CSVT"]],[329224,"智力障碍-颅面畸形-隐睾综合征",["PACS1-related syndrome"]],[329228,"ZNF335基因缺陷所致原始性小头畸形侏儒症",["Walsh型原始性小头畸形侏儒症"]],[329235,"X连锁中枢性先天性甲减和迟发性睾丸肥大",["X连锁中枢性先天性甲减和迟发性巨睾丸"]],[329242,"先天性慢性腹泻伴蛋白丢失性肠病",["先天性慢性腹泻伴渗出性肠病"]],[329249,"SH2B1基因缺陷引起的严重早发性肥胖-胰岛素抵抗综合征"],[329252,"脊椎肋骨发育不良-尿道下裂-智力障碍综合征"],[329255,"UBE3B基因缺陷所致K睑裂狭小-智力障碍综合征"],[329258,"常染色体显性夏科-马里-图斯病2Q型",["夏科-马里-图斯病2Q型"]],[329284,"大脑铁沉积型神经退行性病变5型",["儿童静态脑病伴成人起病神经退行性变"]],[329303,"PLA2G6基因相关神经退行性变",["PLAN"]],[329308,"常染色体隐性遗传痉挛性截瘫35",["FAHN"]],[329314,"DGUOK缺陷致成人发病型多发性线粒体DNA缺失综合征",["DGUOK缺陷致成人发病型多发性mtDNA缺失综合征"]],[329319,"伴有远端肢体缺损的血小板增多症",["遗传性血小板增多症伴横向肢体缺损"]],[329324,"逆行性Klippel-TrÚnaunay综合征",["皮肤血管瘤伴肌肉或骨骼萎缩"]],[329329,"常染色体隐性额颞部无脑回畸形"],[329332,"小头畸形-小脑发育不全-心脏传导缺损综合征",["小头畸形-小脑发育不全-先天性心脏传导缺陷综合征"]],[329336,"成人发病型慢性进行性外眼肌麻痹伴线粒体肌病",["成人发病型CPEO伴线粒体肌病"]],[329341,"DPP6抗体介导的边缘性脑炎",["二肽基-6肽酶抗体介导边缘性脑炎"]],[329457,"5D型末端关节挛缩",["末端关节挛缩5型不伴眼肌瘫痪"]],[329466,"常染色体显性局灶性肌张力障碍DYT25型",["肌张力障碍25"]],[329469,"急性巨核细胞白血病不伴唐氏综合征",["不伴唐氏综合征型AMKL"]],[329475,"痉挛性截瘫-Paget病骨综合征"],[329478,"VCP基因突变致成人发病型远端型肌营养不良症"],[329481,"脂蛋白肾小球病",["LPG病"]],[329802,"5p13微复制综合征",["5p13三体"]],[329813,"嵌合基因组-广泛父系单亲二体",["基因组-广泛父系单亲二体镶嵌现象"]],[329874,"特发性巨细胞心肌炎",["IGCM"]],[329883,"非低蛋白性肥厚性胃病",["肥厚性胃病不伴低蛋白血症"]],[329888,"青少年特发性炎性肌病",["JIIM"]],[329894,"青少年重叠性肌炎"],[329903,"免疫球蛋白介导膜性肾小球肾炎",["Ig介导膜性肾小球肾炎"]],[329918,"C3肾小球病",["非免疫球蛋白介导膜性肾小球肾炎"]],[329931,"C3肾小球肾炎"],[329942,"新生儿暂时性多酰辅酶A脱氢酶缺乏症",["新生儿暂时性戊二酸尿症2型"]],[329967,"间歇性关节炎"],[329971,"青少年息肉/遗传性出血性毛细血管扩张综合征"],[329977,"经典阑尾神经内分泌肿瘤",["Classic appendiceal neuroendocrine tumor","Classic appendix neuroendocrine tumor"]],[329984,"杯状细胞癌",["杯状细胞腺类癌"]],[329998,"淋巴瘤性脑膜炎"],[330001,"野生型ATTR淀粉样变性",["野生型ATTR相关淀粉样变性"]],[330006,"欧洲非罕见：黄斑毛细血管扩张2型"],[330009,"高风险免疫缺陷相关脊髓灰质炎"],[330012,"高原性肺水肿"],[330015,"铅中毒",["Lead intoxication","Plumbism","Saturnism"]],[330021,"汞中毒",["Hydrargyria","Mercurialism","Mercury intoxication"]],[330029,"稀毛-耳聋综合征",["稀毛-听力丧失综合征"]],[330032,"血红蛋白性乙型β地中海贫血综合征",["Hb乙型-β-地中海贫血综合征"]],[330041,"血红蛋白-M病",["M型血红蛋白病"]],[330050,"线粒体和过氧化物酶体裂变缺陷所致DNM1L相关脑病"],[330054,"先天性白内障-进行性肌张力减退-听力丧失-发育迟缓综合征",["先天性白内障-进行性肌张力减退-耳聋-发育迟缓综合征"]],[330058,"种痘样水疱病"],[330061,"光化性痒疹",["美洲印第安人遗传性多形性日光疹"]],[330064,"慢性光化性皮炎",["慢性光敏性皮炎"]],[330197,"遗传性多发性先天性异常/畸形综合征-多样性智力障碍综合征",["遗传性MCA/多样性 MR"]],[330206,"遗传性多发性先天性异常/畸形综合征不伴智力障碍",["遗传性MCA"]],[331176,"G6PC3基因缺乏所致常染色体隐性遗传性严重先天性中性粒细胞减少症",["先天性重型中性粒细胞减少4型"]],[331184,"体质性中性粒细胞减少症伴造血外表现"],[331187,"MASP-2基因缺乏所致免疫缺陷"],[331190,"ficolin3基因缺乏所致免疫缺陷"],[331193,"先天免疫缺陷所致其他免疫缺陷综合征"],[331206,"完全性RAG1/2基因缺乏所致严重联合免疫缺陷",["完全性RAG1/2基因缺乏所致SCID"]],[331217,"联合免疫缺陷综合征"],[331220,"胸腺缺失所致免疫缺陷"],[331223,"高IgE综合征"],[331226,"TYK2基因缺陷所致感染易感",["TYK2基因缺陷所致常染色体隐性IgE增多综合征"]],[331232,"B细胞正常性免疫缺陷伴同型或轻链缺陷"],[331235,"选择性IgM缺陷",["选择性免疫球蛋白M缺陷"]],[331240,"免疫缺陷伴血清极低IgG和IgA、正常/升高IgM及正常B细胞数量"],[331244,"以抗体缺陷为主的其他免疫缺陷综合征"],[331249,"免疫缺陷综合征伴色素减退"],[352298,"弃用：遗传性肌肉通道病"],[352301,"磷脂、鞘脂和脂肪酸生物合成障碍"],[352306,"以中枢神经系统受累为主的磷脂、鞘脂和脂肪酸生物合成障碍"],[352309,"磷脂、鞘脂和脂肪酸生物合成障碍以周围神经系统受累为主"],[352312,"磷脂、鞘脂和脂肪酸生物合成障碍以骨骼肌受累为主"],[352328,"MEGDEL综合征",["3-甲基戊烯二酸尿症伴听力丧失-脑病-Leigh样综合征"]],[352333,"先天性鱼鳞癣-智力障碍-痉挛性四肢瘫痪综合征",["Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome"]],[352403,"血影蛋白相关常染色体隐性小脑共济失调",["婴儿起病脑桥小脑共济失调-精神运动延迟综合征"]],[352447,"进行性眼外肌麻痹-肌病-消瘦综合征",["MGME1基因缺陷所致线粒体DNA维持综合征"]],[352456,"线粒体DNA维持综合征",["mtDNA维持综合征"]],[352470,"DNA2基因相关线粒体DNA缺失综合征",["mtDNA缺失综合征伴进行性肌病"]],[352479,"ISPD基因相关肢带型肌营养不良R20",["常染色体隐性遗传肢带型肌营养不良2U型"]],[352482,"弃用：常染色体隐性肢带型肌营养不良伴小脑受累",["常染色体隐性遗传LGMD伴小脑受累"]],[352487,"肢端异常-智力障碍-矮小综合征"],[352490,"AUTS2基因缺陷所致自闭症谱系障碍",["AUTS2基因缺陷所致ASD"]],[352497,"弃用：DNAJC6基因缺陷导致青少年帕金森综合征伴智力障碍"],[352504,"弃用：左旋多巴无反应性青少年帕金森病",["L-DOPA无反应性青少年帕金森病"]],[352530,"智力障碍-肥胖-脑畸形-面部畸形综合征",["TRAPPC9基因缺陷所致常染色体隐性遗传智力障碍"]],[352540,"致癌性骨软化症",["瘤源性低磷性骨软化症"]],[352563,"MRPL44基因缺陷导致婴儿肥厚型心肌病",["联合氧化磷酸化缺陷症16型"]],[352577,"ASXL3基因缺陷所致严重喂养困难-发育停滞-小头畸形综合征",["Bainbridge-Ropers综合征"]],[352582,"家族性婴儿肌阵挛性癫痫",["家族性婴儿肌阵挛癫痫"]],[352587,"局灶性癫痫-智力障碍-脑小脑畸形",["局灶性癫痫-智力障碍-构音障碍-共济失调综合征"]],[352596,"进行性肌阵挛性癫痫伴肌张力障碍",["进行性肌阵挛癫痫伴肌张力障碍"]],[352613,"NANOS1基因突变所致男性不育症"],[352629,"16q24.1微缺失综合征",["16q24.1单体"]],[352636,"指骨小晶洞病综合征",["指骨溶解症"]],[352641,"常染色体隐性遗传性小脑共济失调伴迟发性痉挛",["GBA2缺乏所致常染色体隐性遗传性小脑共济失调"]],[352649,"脑多巴胺-血清素囊泡转运病"],[352654,"早期进行性神经退行性变-失明-共济失调-痉挛综合征"],[352657,"遗传性良性上皮内角化不良",["遗传性良性上皮角膜内角化不良"]],[352662,"角膜上皮化-掌跖角化过度-喉角化不良综合征"],[352665,"9q21.3微缺失所致神经发育不全-颅面部畸形-心脏缺损-骨骼异常综合征",["9q21.3微缺失综合征"]],[352670,"常染色体显性中间型夏科-马里-图斯病F型",["CMTDIF"]],[352675,"X连锁夏科-马里-图斯病6型",["CMTX6"]],[352682,"无肌肉或眼受累的鹅卵石样无脑回畸形",["无肌肉或眼受累的鹅卵石样无脑回畸形"]],[352687,"先天性肌源性α-糖代谢不良症伴脑和眼畸形",["无脑回畸形2型伴肌肉和眼受累"]],[352694,"弃用：鹅卵石样无脑畸形A型",["无脑回畸形2A型"]],[352699,"弃用：鹅卵石样无脑畸形C型",["无脑回畸形2C型"]],[352704,"弃用：鹅卵石样无脑畸形B型",["无脑回畸形2B型"]],[352709,"CLN13病"],[352712,"面部畸形-免疫缺陷-青斑-身材矮小综合征",["FLIS综合征"]],[352718,"视黄醇转运缺陷所致进行性视网膜营养不良",["视黄醇营养不良虹膜疣粉刺综合征"]],[352723,"轻型ChÚdiak-Higashi综合征",["非典型ChÚdiak-Higashi综合征"]],[352728,"黑色素代谢紊乱"],[352731,"眼皮肤白化病1型",["OCA1"]],[352734,"轻度色素性眼皮肤白化病1型",["MP OCA1型"]],[352737,"温度敏感性眼皮肤白化病1型",["TS OCA1型"]],[352740,"眼白化病伴先天性感音神经性聋",["眼白化病班先天性感音听力丧失"]],[352745,"眼皮肤白化病7型",["OCA7"]],[352763,"硬化病",["Buschke硬肿病"]],[353217,"癫痫性脑病伴全脑皮质髓鞘形成减少",["线粒体天冬氨酸-谷氨酸载体1缺乏症"]],[353220,"家族性原发局灶性皮肤淀粉样变性",["FPLCA"]],[353225,"欧洲非罕见：原发性成人开角型青光眼",["POAG"]],[353253,"灼口综合征",["口腔感觉障碍"]],[353277,"CREBBP基因突变所致Rubinstein-Taybi综合征"],[353281,"16p13.3微缺失所致Rubinstein-Taybi综合征"],[353284,"EP300单抗不足所致Rubinstein-Taybi综合征"],[353298,"罗夫曼综合征",["脊柱骨骺发育不良-视网膜营养不良-免疫缺陷综合征"]],[353308,"丙酮酸羧化酶缺陷，婴儿型",["丙酮酸羧化酶缺乏症A型"]],[353314,"丙酮酸羧化酶缺陷，严重新生儿型",["丙酮酸羧化酶缺乏症B型"]],[353320,"丙酮酸羧化酶缺陷，良性",["丙酮酸羧化酶缺乏症C型"]],[353327,"先天性肌无力综合征伴糖基化缺陷"],[353334,"先天性视网膜动静脉交通",["视网膜先天性动静脉交通"]],[353344,"特发性黄斑毛细血管扩张症1型",["可见渗出性特发性近视网膜毛细血管扩张"]],[353351,"特发性黄斑毛细血管扩张症3型",["阻塞性特发性黄斑旁视网膜毛细血管扩张症"]],[353356,"视网膜血管增生性肿瘤",["眼底血管增生性肿瘤"]],[356947,"3q26q27微缺失综合征",["3q26q27单体"]],[356961,"SLC35A2基因相关先天性糖蛋白糖基化障碍",["先天性糖基化障碍IIm型"]],[356978,"2-羟基戊二酸尿症（D型和L型复合型）",["D-2-羟基戊二酸尿症和L-2-羟基戊二酸尿症"]],[356996,"ANK3基因相关智力障碍-睡眠障碍综合征"],[357001,"19p13.13微缺失综合征",["19p13.13单体"]],[357008,"DGKE基因缺陷性溶血性尿毒综合征",["HUS伴DGKE基因缺陷"]],[357027,"遗传性视网膜母细胞瘤"],[357034,"非遗传性视网膜母细胞瘤"],[357043,"肌萎缩性脊髓侧索硬化症4型",["远端遗传性运动神经病伴有上运动神经元体征"]],[357058,"常染色体隐性皮肤松弛2A型",["ARCL2A"]],[357064,"常染色体隐性皮肤松弛2B型",["常染色体隐性遗传性皮肤松弛症2型早老型"]],[357074,"常染色体隐性皮肤松弛2型，经典型",["常染色体隐性遗传性皮肤松弛症2型Debré型"]],[357107,"动脉胸廓出口综合征",["动脉胸廓出口压迫综合征"]],[357131,"静脉胸廓出口综合征",["静脉胸廓出口压迫综合征"]],[357154,"口腔粘膜下纤维性变",["OSMF"]],[357158,"下颌面骨发育不全-巨睑-巨口畸形综合征",["巨睑-睑外翻-眼距过宽-巨口综合征"]],[357175,"短尺骨-先天性畸形-肌张力减退-智力障碍综合征"],[357220,"原发性原位性脑回状头皮"],[357225,"原发性非原位性脑回状头皮"],[357237,"CARD11基因缺陷所致重症联合免疫缺陷",["CARD11基因缺陷所致SCID"]],[357329,"IL21R基因缺陷所致联合免疫缺陷"],[357332,"并指畸形-第五指屈曲和侧弯-双足趾综合征",["Wahab综合征"]],[357502,"特发性肾病综合征"],[357506,"遗传性非综合征性肾或尿路畸形"],[363189,"先天性大静脉畸形"],[363203,"环状染色体"],[363245,"遗传性早老综合征"],[363250,"睫状体病"],[363266,"弃用：罕见遗传性铁超负荷疾病"],[363294,"遗传性综合征性皮埃尔罗宾综合征"],[363300,"婴儿遗传性难治性腹泻"],[363306,"脂肪吸收障碍所致遗传性肠道疾病"],[363314,"遗传性肠息肉病",["家族性小肠息肉病"]],[363396,"高度近视-感音神经性耳聋综合征",["高度近视-感音神经性听力损失综合征"]],[363400,"严重神经退行综合征伴脂肪营养不良",["BSCL2缺乏所致严重神经退行性综合征"]],[363409,"胎儿运动迟缓性脑和视网膜出血综合征",["致死性先天挛缩综合征5型"]],[363412,"髓鞘形成不良伴脑干和脊髓受累及腿部痉挛",["HBSL"]],[363417,"Temtamy型轴前短指综合征"],[363424,"多发性线粒体功能障碍综合征3型",["IBA57缺乏"]],[363429,"常染色体隐性小脑共济失调-锥体征-眼球震颤-动眼神经失用综合征"],[363432,"GRID2基因缺陷所致常染色体隐性先天性小脑共济失调",["Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency","SCAR18"]],[363444,"THOC6基因相关发育迟缓-小头-面部畸形综合征",["BBIS"]],[363447,"儿童起病常染色体显性近端脊髓性肌萎缩症",["下肢为主的常染色体显性遗传性近端脊髓肌萎缩症"]],[363454,"BICD2基因相关儿童起病常染色体显性近端脊髓性肌萎缩症",["BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures","SMALED2"]],[363472,"睾丸及附睾肿瘤",["睾丸和附睾肿瘤"]],[363478,"附睾腺癌",["附睾腺癌"]],[363483,"睾丸畸胎瘤",["睾丸畸胎瘤"]],[363489,"睾丸性索间质瘤",["睾丸性索间质肿瘤"]],[363494,"非精原细胞睾丸生殖细胞瘤",["睾丸非无性细胞性生殖细胞肿瘤"]],[363504,"睾丸生殖细胞瘤",["睾丸生殖细胞肿瘤"]],[363523,"多汗-牙釉质发育不良-掌跖角化-智力障碍综合征",["Shaheen综合征"]],[363528,"智力障碍-斜视综合征"],[363534,"线粒体DNA缺失综合征，肝脑肾型",["mtDNA缺失综合征肝脑肾型"]],[363540,"脑白质病伴轻度小脑共济失调和脑白质水肿"],[363543,"常染色体隐性肢带肌营养不良2R型",["LGMD2R"]],[363549,"急性脑病伴双相性癫痫和迟发性弥散减少",["主要影响额叶的急性婴儿脑病"]],[363558,"新发性难治性癫痫持续状态",["NORSE"]],[363567,"急性脑病伴炎症介导的癫痫持续状态"],[363579,"性腺外生殖细胞瘤"],[363582,"性腺生殖细胞瘤"],[363611,"智力障碍-喂养困难-发育迟缓-小头畸形综合征"],[363618,"LMNA基因相关心脏皮肤早衰综合征",["LCPS"]],[363623,"GMPPB基因相关肢带型肌营养不良R19型",["常染色体隐性遗传性肢带型肌营养不良2T型"]],[363629,"弃用：GMPPB基因相关先天性肌营养不良",["GMPPB基因相关CMD"]],[363649,"前庭发育不全-耳聋-早衰-脂肪营养不良综合征",["下颌骨发育不全-听力损失-类早老综合征"]],[363654,"X连锁痉挛性帕金森病",["XPDS"]],[363659,"20q11.2微复制综合征",["20q11.2重复"]],[363665,"肢端溶骨-瘢痕疙瘩样病变-早衰综合征",["早老综合征Penttinen型"]],[363677,"儿童起病常染色体隐性肌病伴外眼肌麻痹"],[363680,"2p13.2微缺失综合征",["2p13.2缺失"]],[363686,"重度智力障碍-语言贫乏-斜视-鬼脸-长指综合征"],[363694,"高尿酸血症-肺动脉高压-肾衰-碱中毒综合征",["HURPA综合征"]],[363700,"NF1基因突变或基因内缺失所致神经纤维瘤病1型",["NF1基因突变或基因内缺失所致Von Recklinghausen病"]],[363705,"颅-面-额-肢端综合征",["Cantu颅-面-额-肢端综合征"]],[363710,"脊髓小脑共济失调37型",["脊髓小脑性共济失调伴垂直眼球运动改变"]],[363717,"亚历山大病Ⅰ型",["AxD1型"]],[363722,"亚历山大病II型",["AxD2型"]],[363727,"X连锁伴血小板异常和中性粒细胞减少的红细胞生成异常性贫血"],[363741,"疣状小眼畸形-肥胖-性欲低下-智力障碍综合征"],[363746,"巴林特综合征",["视觉共济失调-凝视失用症-同时性失认综合征"]],[363958,"17q21.31微缺失综合征",["17q21.31单体"]],[363965,"点突变所致Koolen-De Vries综合征"],[363969,"常染色体隐性脑萎缩"],[363972,"努南综合征样障碍伴幼年型慢性骨髓单核细胞性白血病",["努南综合征样障碍伴JMML"]],[363976,"骨巨细胞瘤",["骨巨细胞瘤"]],[363981,"夏科-马里-图斯病4B3型",["夏科-马里-图斯病伴局灶髓鞘折叠障碍"]],[363989,"家族性良性斑点视网膜病"],[363992,"鱼鳞病-身材矮小-短指-小球形晶状体综合征",["15q26.3微缺失综合征"]],[363999,"非免疫性胎儿水肿",["非免疫性胎儿水肿"]],[364013,"免疫性胎儿水肿",["免疫性胎儿水肿"]],[364028,"GRIA3基因突变所致X连锁智力障碍"],[364033,"儿童系统性EB病毒阳性-T淋巴细胞增生性疾病",["儿童系统性EBV阳性T细胞淋巴增生性疾病"]],[364039,"牛痘水疱样淋巴瘤",["儿童血管中心皮肤T细胞淋巴瘤"]],[364043,"ALK阳性大B细胞淋巴瘤",["ALK+大B细胞淋巴瘤"]],[364055,"儿童早期重度视网膜营养不良",["早发性严重视网膜营养不良"]],[364063,"小儿癫痫性运动障碍性脑病"],[364198,"距骨骨碎片未融合"],[364526,"原发性骨发育不良",["原发性骨发育不良"]],[364531,"原发性骨发育不良伴皮肤、骨骼肌、筋膜、肌腱和韧带进行性骨化",["原发性骨发育不良伴皮肤、骨骼肌、筋膜、肌腱和韧带进行性骨化"]],[364536,"原发性骨发育不良伴四肢短小",["原发性骨发育不良伴短肢畸形"]],[364541,"耳-腭-指综合征谱系障碍",["OPD谱系综合征"]],[364559,"骨发育不全"],[364568,"以肢体异常为主要特征的骨发育不良"],[364571,"以肢体和面部异常异常为主要特征的骨发育不良"],[364574,"肩胛骨发育不良"],[364577,"智力障碍-短指-皮埃尔罗宾综合征"],[364803,"常见基因或通路缺陷相关罕见骨病"],[364817,"聚集蛋白聚糖相关骨疾病"],[364820,"TRPV4基因相关骨病"],[365563,"原发性短肠综合征"],[369837,"智力障碍-癫痫-低磷酸酶-眼-骨骼异常综合征",["MCAHS3型"]],[369840,"TRAPPC11基因相关肢带肌营养不良症R18型",["常染色体隐性遗传性肢带型肌营养不良2S型"]],[369847,"智力障碍-多动-躯干共济失调综合征"],[369852,"先天性中性粒细胞减少-骨髓纤维化-肾肿大综合征",["先天性中性粒细胞减少-骨髓纤维化-肾肿大综合征"]],[369861,"先天性铁粒幼细胞性贫血-B细胞免疫缺陷-周期性发热-发育迟缓综合征",["SIFD综合征"]],[369867,"常染色体隐性中间型夏科-马里-图斯病C型",["RI-CMT C型"]],[369873,"SIM1基因缺陷所致肥胖"],[369881,"2p21微缺失综合征不伴胱氨酸尿",["2p21缺失不伴胱氨酸尿"]],[369886,"纯合2p21微缺失综合征",["2p21邻近基因缺失综合征"]],[369891,"MED13L基因缺陷所致发育迟缓-面部畸形综合征",["MED13L-related intellectual disability syndrome"]],[369894,"弃用：早期婴儿癫痫性脑病不伴爆发抑制"],[369897,"线粒体DNA耗竭综合征脑肌病型伴多种颅面异常",["mtDNA耗竭综合征伴脑肌病型伴多种颅面异常"]],[369902,"弃用：DDX59基因相关口-面-指综合征"],[369913,"结合氧化磷酸化不足17型",["COXPD17"]],[369920,"桥脑小脑发育不全9型",["PCH9"]],[369929,"原发性醛固酮增多症伴癫痫和神经系统异常综合征"],[369939,"重型运动及智力障碍-感音神经性聋-肌张力障碍综合征",["严重运动和智力障碍-感音神经性听力损失-肌张力障碍综合征"]],[369942,"先天性ABCD1及DXS1357E基因缺失综合征",["Zellweger样连续基因缺失综合征"]],[369950,"智力障碍-癫痫-大头畸形-肥胖综合征",["Der(8)t(8;12)"]],[369955,"cbIJ型甲基丙二酸血症伴高胱氨酸尿症",["腺苷钴胺素和甲基钴胺素合成结合缺陷cblJ型"]],[369962,"cblX型甲基丙二酸血症伴高胱氨酸尿症",["腺苷钴胺素和甲基钴胺素合成结合缺陷cblX型"]],[369970,"小角膜、缺乏辨别力的脉络膜视网膜萎缩和内眦距过宽综合征",["MMCAT综合征"]],[369979,"多指畸形-脚趾异常-严重漏斗胸综合征"],[369992,"严重皮炎-多发性过敏-代谢衰竭综合征",["SAM综合征"]],[369999,"弥漫性掌跖角化病伴疼痛性裂隙"],[370002,"局灶性掌跖角化伴关节角化病"],[370006,"下丘脑功能不全-继发性小头畸形-视觉损害-尿路异常综合征"],[370010,"智力障碍-面部畸形-手畸形综合征"],[370015,"Isidor型脊柱-上肢-干骺端发育不良"],[370019,"Czarny-Ratajczak型脊柱-上肢-干骺端发育不良"],[370022,"共济失调-智力障碍-动眼神经失用-小脑囊肿综合征",["Poretti-Boltshauser综合征"]],[370026,"急性髓系白血病伴t(8;16)(p11;p13)易位",["AML伴t(8;16)(p11;p13)易位"]],[370034,"家族性脊髓空洞症"],[370039,"安哥拉发痣",["Schauder综合征"]],[370046,"先天性皮肤发育不全-皮脂腺痣综合征",["先天性皮肤发育不全-皮脂腺痣综合征"]],[370052,"SCALP综合征",["皮脂腺痣-中枢神经系统畸形-先天性皮肤发育不全-角膜皮样瘤-色素痣综合征"]],[370059,"NEVADA综合征",["表皮疣状痣伴血管发育不良和动脉瘤"]],[370068,"胎儿抗惊厥药综合征",["胎儿抗癫痫药综合征"]],[370076,"胎儿卡马西平综合征"],[370079,"近端16p11.2微重复综合征",["近端16p11.2三体"]],[370088,"急性婴幼儿肝衰竭-多系统受累综合征"],[370091,"眼皮肤白化病5型",["OCA5"]],[370097,"眼皮肤白化病6型",["OCA6"]],[370103,"原发性肌张力障碍DYT17型"],[370106,"伴有肌张力障碍和其他神经或系统表现的罕见疾病"],[370109,"共济失调-毛细血管扩张变异",["v-AT"]],[370114,"联合性颈部肌张力障碍"],[370127,"巨大血小板综合征",["Medich巨血小板减少症"]],[370131,"白血小板综合征"],[370334,"骨外尤因肉瘤",["骨外尤因肉瘤"]],[370348,"外周原始神经外胚层肿瘤",["周围神经上皮瘤"]],[370396,"卵巢小细胞癌",["小细胞卵巢癌"]],[370921,"STT3A基因型先天性糖基化障碍",["先天性糖基化障碍Iw型"]],[370924,"STT3B基因型先天性糖基化障碍",["缺糖基糖蛋白综合征Ix型"]],[370927,"SSR4基因型先天性糖基化障碍",["缺糖基糖蛋白综合征Iy型"]],[370930,"XYLT1基因型先天性糖基化障碍"],[370933,"GM3合酶缺陷",["ST3GAL5-CDG"]],[370938,"椒盐综合征"],[370943,"自闭症谱系障碍-癫痫-关节病综合征",["SLC35A3-CDG"]],[370953,"营养不良性糖病所致先天性肌营养不良",["抗肌萎缩相关糖蛋白病所致CMD"]],[370959,"先天性肌营养不良伴小脑受累",["CMD伴小脑受累"]],[370968,"先天性肌营养不良伴智力障碍",["CMD伴智力障碍"]],[370980,"先天性肌营养不良不伴智力障碍",["先天性肌营养不良-抗肌萎缩相关糖蛋白病不伴智力障碍"]],[370997,"肌眼脑疾病伴双侧多囊性脑白质营养不良",["MEB病伴双侧多囊性脑白质营养不良"]],[371007,"先天性肌营养不良伴过度松弛",["CMDH"]],[371024,"α-肌营养不良蛋白聚糖定性或定量缺陷",["α-肌营养不良蛋白聚糖病"]],[371040,"α-肌营养不良蛋白聚糖主要定性或定量缺陷",["原发性α-肌营养不良蛋白聚糖病"]],[371047,"先天性糖基化障碍伴神经损害",["CDG伴神经损害"]],[371054,"以智力障碍为主要特征的X连锁先天性糖基化障碍",["以智力障碍为主要特征的X连锁CDG"]],[371064,"以智力障碍为主要特征的非X连锁先天性糖基化障碍",["以智力障碍为主要特征的非X连锁CDG"]],[371071,"以癫痫为主要特征的先天性糖基化障碍",["以癫痫为主要特征的CDG"]],[371157,"先天性糖基化障碍伴肝脏受累",["CDG伴肝脏受累"]],[371176,"先天性糖基化障碍伴扩张型心肌病",["CDG伴扩张型心肌病"]],[371183,"以心脏畸形为主要特征的先天性糖基化障碍",["以心脏畸形为主要特征的CDG"]],[371188,"先天性糖基化障碍伴肠受累",["CDG伴小肠受累"]],[371195,"先天性糖基化相关骨疾病",["CDG相关骨病"]],[371200,"先天性糖基化障碍伴皮肤受累",["CDG伴皮肤受累"]],[371207,"以肾病为主要特征的先天性糖基化障碍",["以肾病为主要特征的CDG"]],[371212,"以耳聋为主要特征的先天性糖基化障碍",["以听力损失为主要特征的先天性糖基化障碍"]],[371235,"先天性糖基化障碍伴发育异常",["CDG伴发育异常"]],[371364,"低张力-言语障碍-严重认知延迟综合征",["IHPRF综合征"]],[371428,"多中心骨质溶解-结节-关节病谱系",["结节变性-关节病-骨溶解综合征"]],[371433,"遗传性周期性麻痹"],[371436,"遗传性神经血管畸形"],[371439,"弃用：遗传性脑血管性痴呆"],[371442,"鞘脂类代谢障碍伴癫痫"],[371445,"遗传综合征性食管畸形"],[371861,"遗传性醛固酮增多症"],[376724,"全身孤立性肌张力障碍"],[391307,"重度智力障碍-身材矮小-行为异常-面部畸形综合征"],[391311,"STAT1基因缺陷所致对病毒和分枝杆菌易感",["STAT1缺陷所致对严重病毒感染易感"]],[391316,"婴儿期起病颞叶内侧癫痫伴严重认知功能减退"],[391320,"东德克萨斯出血性疾病"],[391327,"X连锁颅骨骨质增生症"],[391330,"X连锁骨质疏松伴骨折"],[391343,"致命病毒感染后神经退行性疾病"],[391348,"生长发育迟缓-低张力-视力损害-乳酸酸中毒综合征"],[391351,"SURF1基因相关夏科-马里-图斯病4型",["SURF1基因相关严重脱髓鞘夏科-马里-图斯病"]],[391366,"生长滞后-轻度发育迟缓-慢性肝炎综合征"],[391372,"智力障碍-重度言语延迟-轻度畸形综合征",["FOXP1综合征"]],[391376,"先天性小头畸形-重度脑病-进行性脑萎缩综合征",["天冬酰胺合成酶缺乏症"]],[391381,"天冬酰胺代谢紊乱"],[391384,"家族性阵发性疼痛综合征",["FEPS"]],[391389,"家族性阵发性疼痛综合征伴上半身受累为主"],[391392,"家族性阵发性疼痛综合征伴下肢受累为主"],[391397,"遗传性感觉和自主神经病变7型",["遗传性感觉和自主神经病伴多汗症和胃肠功能障碍"]],[391408,"原发性小头畸形-轻度智力障碍-青年起病糖尿病综合征"],[391411,"非典型青少年帕金森病"],[391417,"HSD10病",["2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症"]],[391428,"婴儿型HSD10病",["婴儿型2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症"]],[391457,"新生儿型HSD10病",["新生儿型2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症"]],[391474,"额鼻部发育不良1型",["孤立性面部正中裂综合征"]],[391479,"弃用：综合征性额鼻部发育不良",["综合征性面部正中裂综合征"]],[391487,"自身免疫性肠病和内分泌疾病-慢性感染易感综合征"],[391490,"成人起病重症肌无力",["成人起病自身免疫性重症肌无力"]],[391497,"青少年起病重症肌无力",["青少年起病自身免疫性重症肌无力"]],[391504,"新生儿短暂性重症肌无力",["新生儿获得性自身免疫性重症肌无力"]],[391641,"Feingold综合征1型",["手指畸形伴睑裂短和食管或十二指肠闭锁1型"]],[391646,"Feingold综合征2型",["小头畸形-智力障碍-气管食管瘘2型"]],[391651,"血管球瘤"],[391655,"帕金森病口服治疗无效的间歇期"],[391658,"弃用：牛痘感染"],[391665,"纯合家族性高胆固醇血症",["HoFH"]],[391673,"坏死性小肠结肠炎"],[391677,"身材矮小-视神经萎缩-佩-休异常综合征",["SOPH综合征"]],[391711,"持续性联合肌张力障碍"],[391723,"阑尾粘液腺癌",["阑尾粘液性腺癌"]],[391799,"罕见遗传性肌张力障碍",["罕见遗传性肌张力低下"]],[394529,"重度新生儿型多重酰基辅酶A脱氢酶缺乏症",["重度新生儿型戊二酸尿症2型"]],[394532,"轻型多重酰基辅酶A脱氢酶缺乏症",["轻型戊二酸尿症2型"]],[397587,"深部皮肤癣菌病",["播散肉芽肿性皮肤霉菌病"]],[397590,"点突变所致Silver-Russell综合征"],[397593,"NFS1-ISD11复合物缺陷所致重度新生儿乳酸酸中毒"],[397596,"激活PI3K-δ综合征",["P110δ激活突变所致衰老T细胞-淋巴结病-免疫缺陷综合征"]],[397606,"PrP系统性淀粉样变",["慢性腹泻伴遗传性感觉和自主神经病"]],[397612,"小头畸形-发育迟缓综合征"],[397615,"CEP19基因缺陷所致肥胖"],[397618,"黄斑中心凹发育不良-视神经交叉缺损-眼前段发育不全综合征",["FHONDA综合征"]],[397623,"身材矮小-听道闭锁-下颌骨发育不全-骨骼异常综合征",["SAMS综合征"]],[397685,"家族性高催乳素血症",["家族性孤立性催乳素受体缺乏症"]],[397692,"遗传性孤立性再生障碍性贫血"],[397695,"3q27.3微缺失综合征",["3q27.3缺失"]],[397709,"智力障碍-粗糙面容-巨头-小脑萎缩综合征",["常染色体隐性遗传性脊髓小脑共济失调20型"]],[397715,"Joubert综合征伴Jeune窒息性胸廓营养不良",["Joubert综合征伴JATD"]],[397725,"COASY蛋白相关神经退行性疾病",["COASY突变所致神经退行性变伴脑铁积聚"]],[397735,"常染色体显性遗传性夏科-马里-图斯病2U型",["MARS突变所致常染色体显性遗传性夏科-马里-图斯病2型"]],[397744,"周围神经病变-肌病-声音嘶哑-听力障碍综合征",["周围神经病-疾病-声音嘶哑-耳聋综合征"]],[397750,"周期性麻痹伴迟发性远端运动神经病"],[397755,"周期性麻痹伴短暂间隔室样综合征"],[397758,"视网膜营养不良伴视网膜功能障碍和神经节细胞异常",["视网膜营养不良伴内核层和神经节细胞异常"]],[397787,"IKK2基因缺陷所致重症联合免疫缺陷",["IKK2基因缺陷所致SCID"]],[397802,"T+B+重症联合免疫缺陷"],[397922,"铁超负荷-脑-皮肤综合征",["脑皮肤综合征伴铁超载"]],[397927,"骶骨发育不全-椎体成骨异常-持续性脊索管综合征"],[397933,"重度智力障碍-进行性产后小头畸形-中线刻板手部动作综合征",["IQSEC2相关综合征性智力障碍"]],[397937,"葡聚糖体肌病1型",["PGBM1"]],[397941,"MAN1B1缺乏所致先天性糖基化障碍2型",["MAN1B1缺乏所致缺糖基糖蛋白综合征II型"]],[397946,"常染色体痉挛性截瘫58型",["常染色体痉挛性共济失调2型"]],[397951,"小头薄胼胝体智力障碍综合征"],[397959,"T细胞受体α/β阳性T细胞缺乏症",["T细胞受体α/β+T细胞缺乏症"]],[397964,"黏膜关联淋巴组织淋巴瘤易位基因1缺陷导致的联合免疫缺陷"],[397968,"Charcot-Marie-Tooth病2R型",["CMT2R"]],[397973,"智力障碍-肥胖-下颌前凸-眼及皮肤异常综合征",["MOMES综合征"]],[398043,"阴茎恶性肿瘤",["恶性阴茎肿瘤"]],[398053,"阴茎腺癌",["阴茎腺癌"]],[398058,"阴茎鳞状细胞癌",["阴茎鳞状细胞癌"]],[398063,"难治性乳糜泻病",["难治性CD"]],[398069,"MAGEL2相关的普拉德-威利样综合征",["Schaaf-Yang综合征"]],[398073,"普拉德-威利样综合征",["类PWS"]],[398079,"SIM1相关普拉德-威利样综合征",["SIM1相关PWLS"]],[398088,"遗传性冷冻cryohydrocytosis伴正常口型红细胞"],[398091,"继发性新生儿自身免疫性疾病",["经胎盘获得性新生儿自身免疫性疾病"]],[398097,"新生儿抗磷脂综合征",["新生儿抗磷脂抗体综合征"]],[398109,"新生儿自身免疫性溶血性贫血",["新生儿AIHA"]],[398117,"新生儿皮肌炎",["新生儿DM"]],[398124,"新生儿红斑狼疮"],[398127,"新生儿硬皮病"],[398147,"持续性特发性面部疼痛",["非典型性面部疼痛"]],[398156,"眼耳前额肌综合征",["OAFNS"]],[398166,"局灶性面部皮肤发育异常",["FFDD"]],[398173,"局灶性面部皮肤发育异常2型",["局灶性面部真皮发育异常2型Brauer-Setleis type型"]],[398189,"局灶性面部皮肤发育异常4型",["局灶性面部耳前真皮发育不良"]],[398934,"恶性卵巢上皮性肿瘤",["卵巢恶性上皮性肿瘤"]],[398940,"恶性卵巢非上皮性肿瘤",["卵巢恶性非上皮性肿瘤"]],[398961,"卵巢粘液性腺癌",["卵巢粘液性腺癌"]],[398971,"卵巢透明细胞腺癌",["卵巢透明细胞腺癌"]],[398980,"原发性腹膜浆液性/乳头状癌",["PPSPC"]],[398987,"卵巢恶性畸胎瘤",["卵巢恶性畸胎瘤"]],[399058,"Alpha-B晶状体蛋白相关迟发性肌病",["Alpha-B晶格蛋白相关迟发性远端肌病"]],[399081,"KLHL9相关早发性远端肌病"],[399086,"芬兰上肢发作性远端肌病",["远端肌病3型"]],[399096,"远端肌张力障碍",["Miyoshi肌营养不良3型"]],[399103,"远端神经蛋白肌病",["伴肌动蛋白相关早发远端肌病"]],[399158,"骨坏死",["骨坏死"]],[399164,"缺血性坏死",["AVN"]],[399169,"继发性缺血性坏死",["继发性AVN"]],[399175,"创伤性缺血性坏死",["创伤性AVN"]],[399180,"继发性非缺血性坏死",["继发性非创伤性骨坏死"]],[399185,"罕见遗传病伴缺血性坏死"],[399293,"颌骨坏死"],[399302,"原发性缺血性坏死",["原发性AVN"]],[399307,"特发性缺血性坏死",["特发性AVN"]],[399319,"骨软骨病"],[399329,"髋关节骨骺分离",["股骨头骨骺滑脱"]],[399380,"遗传性骨坏死",["遗传性骨坏死"]],[399388,"遗传性缺血性坏死"],[399391,"遗传性骨软骨病"],[399572,"下丘脑-垂体-性腺轴异常所致罕见男性不育",["因促性腺激素轴紊乱所致罕见男性不育"]],[399584,"肾上腺疾病所致罕见男性不育"],[399685,"睾丸内分泌失调所致罕见男性不育"],[399764,"性腺发育不全或精子异常所致男性不育",["睾丸发育不良或精子障碍所致男性不育"]],[399771,"精子异常所致男性不育"],[399775,"男性不育伴生精障碍"],[399786,"男性不育伴单基因突变所致生精障碍"],[399805,"男性不育伴单基因突变所致无精子症或少精子症"],[399808,"男性不育伴单基因突变所致畸形性精子症"],[399813,"精子运动障碍导致的男性不育",["弱精子症所致男性不育"]],[399824,"罕见梗阻性无精症",["精子运输受损所致罕见疾病"]],[399831,"下丘脑-垂体-性腺轴异常导致的罕见女性不育",["促性腺轴紊乱所致罕见女性不孕"]],[399839,"先天性低促性腺素性腺功能减退症所致罕见女性不育"],[399846,"Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism"],[399849,"肾上腺疾病所致罕见女性不育"],[399853,"卵巢功能异常所致罕见女性不育"],[399877,"性腺发育不全所致罕见女性不育",["卵巢发育不全所致罕见女性不孕"]],[399882,"植入缺陷所致罕见女性不育"],[399980,"罕见的遗传性男性不育"],[399983,"遗传性下丘脑-垂体-性腺轴疾病导致的罕见男性不育",["遗传性下丘脑-垂体-睾丸轴紊乱所致罕见男性不育"]],[399994,"遗传性肾上腺疾病导致的罕见男性不育"],[399998,"遗传性梗阻性无精症导致的男性不育",["遗传性精子运输障碍所致男性不育"]],[400003,"罕见遗传性障碍伴梗阻性无精症",["精子运输障碍所致罕见遗传性障碍"]],[400008,"罕见遗传性女性不育"],[400011,"遗传性下丘脑-垂体-性腺轴障碍导致的罕见女性不育",["遗传性下丘脑-垂体-睾丸轴紊乱所致罕见女性不孕"]],[400018,"遗传性肾上腺疾病导致的罕见女性不育"],[400022,"遗传性卵巢功能异常导致的罕见女性不孕"],[400025,"遗传性植入缺陷导致的罕见女性不育"],[401764,"全血细胞减少-发育迟缓综合征",["三系骨髓衰竭-发育迟缓综合征"]],[401768,"近端肌病伴锥体外系体征"],[401777,"视神经萎缩-智力障碍综合征",["Bosch-Boonstra-Schaaf视神经萎缩综合征"]],[401780,"常染色体隐性遗传痉挛性截瘫61型",["SPG61"]],[401785,"常染色体隐性遗传痉挛性截瘫62型",["SPG62"]],[401795,"常染色体隐性遗传痉挛性截瘫59型",["SPG59"]],[401800,"常染色体隐性遗传痉挛性截瘫60型",["SPG60"]],[401805,"常染色体隐性遗传痉挛性截瘫63型",["SPG63"]],[401810,"常染色体隐性遗传痉挛性截瘫64型",["SPG64"]],[401815,"常染色体隐性遗传痉挛性截瘫66型",["SPG66"]],[401820,"常染色体隐性遗传痉挛性截瘫67型",["SPG67"]],[401825,"常染色体隐性遗传痉挛性截瘫68型",["SPG68"]],[401830,"常染色体隐性遗传痉挛性截瘫69型",["SPG69"]],[401835,"常染色体隐性遗传痉挛性截瘫70型",["SPG70"]],[401840,"常染色体隐性遗传痉挛性截瘫71型",["SPG71"]],[401849,"常染色体痉挛性截瘫72型",["SPG72"]],[401854,"硫辛酸生物合成缺陷",["磷脂生物合成缺陷"]],[401859,"硫辛酸合成酶缺乏症"],[401862,"脂酰转移酶1缺乏症"],[401866,"童年发作性痉挛伴高氨酸血症",["儿童期发病痉挛伴非酮症性高甘氨酸血症"]],[401869,"多发性线粒体功能障碍综合征1型",["NFU1缺陷"]],[401874,"多发性线粒体功能障碍综合征2型",["BOLA3缺陷"]],[401901,"C9ORF72扩增导致的亨廷顿病样综合征",["C9ORF72扩展所致亨廷顿病拟表型"]],[401911,"AXIN2相关性家族性腺瘤性息肉病",["AXIN2基因相关衰减型家族性结肠息肉病"]],[401920,"纤维板层肝细胞癌",["纤维板层型肝癌"]],[401923,"9q31.1q31.3微缺失综合症",["9q31.1q31.3单体"]],[401935,"14q24.1q24.3微缺失综合症",["14q24.1q24.3单体"]],[401942,"家族性上下唇正中裂"],[401945,"烟雾病伴早发型贲门失弛缓症"],[401948,"碳酸酐酶VA缺乏症导致的高氨性脑病",["CA-VA缺陷"]],[401953,"发作性共济失调伴言语不清",["发作性共济失调8型"]],[401959,"部分胼胝体发育不全-小脑蚓部发育不全伴后颅窝囊肿综合征"],[401964,"常染色体显性遗传夏科-马里-图斯病2型伴巨大轴突",["常染色体显性遗传运动和感觉神经病2型伴巨大轴突"]],[401973,"MEND综合征",["男性EBP缺陷伴神经功能缺陷"]],[401979,"MÚgarbanÚ型常染色体隐性遗传脊椎干骺端发育不良"],[401986,"1p31p32微缺失综合症",["1p31p32单体"]],[401993,"冷诱发出汗综合征-发热症候群"],[401996,"巨核细胞性间质性肾炎",["系统性核巨大"]],[402003,"常染色体显性局灶性非表皮松解性掌跖角化病伴足底起疱"],[402007,"黏液水肿性苔藓"],[402014,"急性髓系白血病伴t(6;9)(p23;q34)变异",["AML伴t(6;9)(p23;q34)"]],[402017,"急性髓系白血病伴t(9;11)(p22;q23)变异",["AML伴t(9;11)(p22;q23)"]],[402020,"急性髓系白血病伴inv(3)(q21q26.2) or t(3;3)(q21;q26.2)变异",["AML伴inv(3)(q21q26.2)或t(3;3)(q21;q26.2)"]],[402023,"急性巨核细胞白血病伴t(1;22)(p13;q13)变异",["巨核细胞性AML伴t(1;22)(p13;q13)"]],[402026,"急性髓系白血病伴NPM1体细胞突变",["AML伴NPM1体细胞突变"]],[402029,"原发性嗜酸性胃肠道疾病",["EGID"]],[402035,"嗜酸细胞性结肠炎"],[402041,"常染色体隐性遗传性远端肾小管酸中毒",["常染色体隐性遗传性远端RTA"]],[402075,"家族性二叶式主动脉瓣",["家族性BAV"]],[402082,"进行性肌阵挛性癫痫5型",["进行性肌阵挛性癫痫5型"]],[402364,"小儿脑和小脑萎缩伴产后进行性小头畸形"],[402823,"丁型肝炎",["丁型病毒肝炎"]],[404437,"弥漫性脑和小脑萎缩-顽固性癫痫-进行性小头综合征"],[404440,"SETD5单倍剂量不足导致的智力障碍和面部畸形综合征"],[404443,"身材高大-智力障碍-面部畸形综合征",["塔顿-布朗-拉赫曼过度生长综合征"]],[404448,"ADNP综合征",["ADNP相关综合征性智力障碍-自闭症"]],[404451,"FBLN1相关的发育迟缓-中枢神经系统异常-并指（趾）综合征"],[404454,"无泪-舞蹈手足徐动症-肝功能障碍综合征",["NGLY1缺乏"]],[404463,"多系统平滑肌功能障碍综合征"],[404466,"透明带缺损导致的女性不育"],[404469,"卵母细胞成熟缺陷导致的罕见女性不育"],[404473,"严重智力障碍-进行性痉挛性截瘫综合征",["CTNNB1综合征"]],[404476,"全面性发育迟缓-肺囊肿-过度生长-Wilms瘤综合征",["GLOW综合征"]],[404481,"常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征"],[404493,"TUD缺乏导致的常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征",["脊髓小脑共济失调常染色体隐性23型"]],[404499,"RUBCN缺乏导致的常染色体隐性遗传小脑共济失调-癫痫-智力障碍综合征",["萨利赫共济失调"]],[404507,"软骨粘液样纤维瘤"],[404511,"透明细胞乳头状肾细胞癌"],[404514,"获得性囊性疾病相关性肾细胞癌"],[404521,"脊髓性肌萎缩伴呼吸窘迫2型",["严重的小儿轴索神经病伴呼吸衰竭2型"]],[404538,"X连锁远端遗传性运动神经病",["X连锁远端脊髓性肌萎缩"]],[404546,"白介素36受体拮抗剂缺陷",["IL-36R拮抗剂缺乏"]],[404553,"ADA2缺乏导致的血管炎",["DADA2相关血管炎"]],[404560,"家族性非典型多发性痣黑色素瘤综合征",["家族性非典型多发性黑素瘤-胰腺癌综合征"]],[404568,"遗传性骨发育不全"],[404571,"以肢体异常为主要特征的遗传性骨发育不全"],[404574,"短肢缺陷遗传综合征"],[404577,"以肢体畸形为主要特征的遗传综合征"],[404580,"多关节青少年特发性关节炎",["幼年多发性关节炎"]],[404584,"罕见遗传性骨发育障碍",["罕见的遗传性骨骼发育障碍"]],[411493,"脑桥小脑发育不全10型",["CLP1相关的脑桥小脑发育不良"]],[411501,"威廉-坎贝尔综合征"],[411511,"点突变导致的天使综合征"],[411515,"15q11-q13印迹缺陷导致的天使综合征"],[411527,"视网膜中央静脉闭塞",["CRVO"]],[411533,"欧洲非罕见：黑色素瘤"],[411536,"轻度磷酸核糖焦磷酸合成酶超活性",["轻度PRPP合成酶超活性"]],[411543,"严重磷酸核糖焦磷酸合成酶超活性",["重度PRPP合成酶超活性"]],[411590,"Wolfram样综合征"],[411593,"胰岛素自身免疫综合征",["平田病"]],[411602,"遗传性迟发帕金森病",["常染色体显性遗传晚期起病帕金森病"]],[411629,"肾病性婴儿胱氨酸贮积症"],[411634,"幼年型肾病性胱氨酸贮积症",["中间型胱氨酸病"]],[411641,"眼胱氨酸贮积症",["非肾病性胱氨酸病"]],[411696,"质子泵抑制剂反应性食管嗜酸性粒细胞增多症",["PPI-反应性食管嗜酸粒细胞增多"]],[411703,"肺非结核分枝杆菌感染",["非结节性分枝杆菌性肺病"]],[411709,"肾发育不全"],[411712,"母体核黄素缺乏"],[411777,"广泛爆发性角棘皮瘤",["格里波夫斯基全身性爆发性角棘皮瘤"]],[411788,"家族孤立性睫毛粗长症"],[411969,"欧洲非罕见：代谢综合征"],[411986,"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome",["癫痫-皮质盲-智力障碍-面部畸形综合征"]],[412022,"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome",["特拉布尔西综合征"]],[412035,"13q12.3微缺失综合征",["13q12.3单体"]],[412057,"STUB1缺陷所致常染色体隐性遗传小脑性共济失调",["脊髓小脑共济失调常染色体隐性16型"]],[412066,"PRKAR1B相关神经退行性痴呆伴"],[412069,"AHDC1相关智力障碍-阻塞性睡眠呼吸暂停",["夏-吉布斯综合征"]],[412181,"BP230缺陷所致单纯型大疱性表皮松解",["与DST相关的表皮松解性大疱"]],[412189,"exophilin5缺陷导致的单纯型大疱性表皮松解",["EBS-AR 外泌素5"]],[412206,"原发性牙萌出障碍",["原发性牙萌出障碍"]],[412217,"肌张力障碍-失声综合征"],[412220,"弃用：拉姆齐·亨特综合征2型"],[414726,"遗传性面裂",["遗传性面裂"]],[415268,"欧洲非罕见：肺腺癌"],[415286,"胆红素脑病",["胆红素脑病"]],[415300,"欧洲非罕见：非动脉性前部缺血性视神经病变",["NAION"]],[415675,"弃用：天花",["痘症"]],[415687,"欧洲非罕见：婴儿猝死综合征",["SIDS"]],[418945,"唾液腺型食管癌",["唾液腺型食管癌"]],[418951,"食管未分化癌",["未分化型食管癌"]],[418959,"胃鳞状细胞癌",["胃鳞状细胞癌"]],[420179,"Malan过度生长综合征",["索托斯综合征2型"]],[420259,"继发性肺泡蛋白沉着症",["继发型PAP"]],[420402,"半规管裂隙综合征",["SCD综合征"]],[420429,"迟发型酸性麦芽糖酶缺陷所致糖原贮积症",["迟发型α-1,4-葡萄糖苷酶酸缺乏症"]],[420485,"颅颈部肌张力障碍伴喉及上肢受累",["张力异常24型"]],[420492,"成年起病颈肌张力障碍DYT23型",["张力异常23型"]],[420556,"视雪综合征"],[420561,"Temple-Baraitser综合征",["严重智力障碍-拇指和拇趾指综合​​症的轻度发育不良"]],[420566,"CalDAG-GEFI缺陷导致的出血障碍",["钙和DAG调节的鸟嘌呤交换因子1缺乏引起的出血性疾病"]],[420573,"CTPS1缺陷导致的重症联合免疫缺陷",["CTPS1缺乏导致的SCID"]],[420584,"轴后性多指症-垂体前叶发育异常-面部畸形综合征",["卡勒琼斯综合征"]],[420611,"一过性骨髓增生综合征",["一过性骨髓增生性疾病"]],[420686,"羊毛状发-掌跖角化综合征",["羊毛状发-掌跖角化综合征"]],[420699,"CXCR2缺陷所致的常染色体隐性遗传性先天性中性粒细胞减少症"],[420702,"CSF3R缺陷所致的常染色体隐性遗传性先天性中性粒细胞减少症"],[420728,"联合氧化磷酸化缺陷症20型",["COXPD20"]],[420733,"联合氧化磷酸化缺陷症21型",["COXPD21"]],[420741,"RIDDLE 综合征",["放射敏感性-免疫缺陷-畸形特征-学习障碍综合征"]],[420755,"罕见遗传性牙或牙周病"],[420789,"自身免疫性脑病伴异常睡眠和阻塞性睡眠呼吸暂停",["抗IgLON5综合征"]],[420794,"椎间突发育不良",["短小身材-脊柱后凸-髂骨畸形-锥形骨骺-面部畸形综合征"]],[422519,"弃用：3-磷酸​​甘油酸脱氢酶缺乏症",["PHGDH缺乏"]],[422526,"遗传性肾透明细胞癌",["遗传性透明细胞肾细胞腺癌"]],[423275,"脊髓小脑共济失调40型",["SCA40"]],[423296,"脊髓小脑共济失调38型",["SCA38"]],[423306,"小头畸形-身材矮小-智力障碍-面部畸形综合征"],[423384,"JAGN1缺陷所致常染色体隐性遗传性先天性中性粒细胞减少症"],[423454,"指甲和牙齿异常-边缘掌跖角皮病-口腔色素沉着综合征",["外胚层发育不良症-身材矮小症综合征"]],[423461,"粘脂质贮积症III型αβ",["粘脂质累积3型 alpha/beta"]],[423470,"粘脂质贮积症III型γ",["粘脂质累积3型γ"]],[423479,"X连锁遗传智力障碍-肢体痉挛-视网膜营养不良-尿崩症综合征"],[423655,"ARX相关脑病-脑畸形谱"],[423662,"罕见自主神经系统紊乱"],[423668,"欧洲非罕见：产皮质醇肾上腺瘤"],[423693,"右心室双出口伴主动脉下或双侧室间隔缺损",["DORV合并主动脉下或双侧VSD"]],[423712,"异型性右室双出口伴房室间隔缺损及肺动脉狭窄，",["异型性DORV合并房室间隔缺损肺动脉狭窄"]],[423717,"皮肤幼虫移行症"],[423771,"罕见胃癌",["罕见胃癌"]],[423776,"遗传性胃癌",["遗传性胃癌"]],[423781,"弃用：唾液腺型胃癌",["唾液腺型胃癌"]],[423786,"胃未分化癌",["胃未分化癌"]],[423793,"罕见小肠肿瘤",["罕见小肠肿瘤"]],[423798,"小肠间质瘤",["小肠间质瘤"]],[423894,"小头-复杂运动和感觉神经轴突性神经病综合征"],[423957,"罕见小肠癌",["罕见小肠癌"]],[423968,"小肠鳞状细胞癌",["小肠鳞状细胞癌"]],[423975,"小肠神经内分泌肿瘤",["小肠神经内分泌肿瘤"]],[423982,"阑尾上皮肿瘤",["阑尾上皮肿瘤"]],[423991,"罕见结肠上皮肿瘤"],[423994,"结肠鳞状细胞癌"],[423998,"罕见直肠上皮肿瘤",["罕见直肠上皮肿瘤"]],[424002,"直肠鳞状细胞癌",["直肠鳞状细胞癌"]],[424010,"肛管上皮肿瘤"],[424013,"肛管癌"],[424016,"肛管腺癌"],[424019,"肛管鳞状细胞癌"],[424027,"进行性肌阵挛性癫痫8型",["CERS1缺乏导致的进行性肌阵挛性癫痫"]],[424033,"罕见胰腺上皮肿瘤",["罕见胰腺上皮肿瘤"]],[424039,"胰腺鳞状细胞癌",["胰腺鳞状细胞癌"]],[424046,"胰腺腺泡细胞癌",["胰腺腺泡细胞癌"]],[424053,"胰腺粘液性囊腺癌",["胰腺粘液性囊腺癌"]],[424058,"胰管内乳头状黏液性癌",["胰管内乳头状黏液性癌"]],[424065,"胰腺实性假乳头状癌",["胰腺实性假乳头状癌"]],[424073,"胰腺浆液性囊腺癌",["胰腺浆液性囊腺癌"]],[424080,"胰腺破骨细胞样巨细胞瘤",["未分化的胰腺破骨细胞样瘤"]],[424099,"缺损性小眼球-肢根发育不良综合征",["小眼球-眼球缺损-肢根发育不良"]],[424107,"先天性肌病伴肌无力样发作"],[424261,"TOR1AIP1相关肢带肌营养不良",["Torsin-1A反应蛋白1缺乏导致的常染色体隐性肌营养不良症"]],[424925,"Torsin-1A-互作蛋白1质量或数量缺陷"],[424933,"肝和肝内胆道罕见恶性上皮肿瘤",["罕见恶性上皮肝癌和IBT"]],[424936,"肝癌和肝内胆道癌",["肝癌和IBT"]],[424943,"肝和肝内胆道腺癌",["肝腺癌和IBT"]],[424970,"肝和肝内胆道未分化癌",["肝未分化癌和IBT"]],[424975,"肝和肝内胆道鳞状细胞癌",["肝鳞状细胞癌和IBT"]],[424982,"胆囊囊腺癌",["肝内胆管囊腺癌"]],[424991,"胆囊和肝外胆道腺癌",["胆囊腺癌和EBT"]],[424996,"胆囊和肝外胆道鳞状细胞癌",["胆囊鳞状细胞癌和EBT"]],[425003,"遗传性消化道癌症易感综合征"],[425120,"STING相关的婴儿期血管病",["SAVI"]],[425368,"罕见小肠上皮肿瘤",["罕见小肠上皮肿瘤"]],[431140,"X连锁遗传性缺损性小眼球-小头-智力障碍-身材矮小综合征",["X连锁缺损性小眼球-小头畸形-身材矮小-精神运动障碍综合征"]],[431149,"OX40缺乏所致联合免疫缺陷",["联合免疫缺陷合并对人疱疹病毒-8免疫力下降"]],[431156,"原发性免疫缺陷伴严重病毒易感"],[431166,"原发性免疫缺陷伴麻腮风疫苗接种后易感",["原发性免疫缺陷伴麻腮风疫苗接种后易感"]],[431255,"肩胛腓骨部脊髓性肌萎缩",["新英格兰型神经源性肩胛腓骨部肌萎缩"]],[431263,"迟发性肩胛腓骨部肌营养不良伴透明小体形成",["迟发性肩胛腓骨综合征，肌病型"]],[431272,"X连锁遗传性肩胛腓骨部肌营养不良",["X连锁肩胛腓骨部综合征"]],[431320,"痉挛性截瘫-视神经萎缩神经病和痉挛性截瘫-视神经萎缩神经病相关疾病",["SPOAN和SPOAN相关疾病"]],[431329,"常染色体隐性遗传性痉挛性截瘫57型",["部分TFG缺乏导致的痉挛性截瘫"]],[431341,"开放性脐尿管"],[431344,"脐尿窦"],[431347,"脐尿管憩室",["膀胱脐尿管憩室"]],[431353,"肺静脉闭塞性疾病和/或肺毛细血管血管瘤病"],[431361,"DECR缺乏所致进行性脑病伴脑白质营养不良",["2,4-二烯酰辅酶A还原酶缺乏症"]],[434179,"口面指综合征14型",["小头畸形-口面指综合征"]],[434786,"罕见的遗传性植物神经系统疾病"],[434809,"羊毛状发综合征"],[435329,"家族性骨化性纤维瘤",["多发性骨化纤维瘤"]],[435365,"胎儿下尿路梗阻",["LUTO"]],[435372,"前尿道瓣膜"],[435387,"常染色体显性遗传性夏科-马里-图斯病2Y型",["VCP突变导致的常染色体显性Charcot-Marie-Tooth病2型"]],[435438,"进行性肌阵挛性癫痫7型",["钾通道突变导致肌阵挛性癫痫和共济失调"]],[435554,"遗传性早熟"],[435561,"女性性早熟"],[435564,"女性遗传性性早熟"],[435603,"遗传性耳鼻喉科畸形"],[435606,"遗传性鼻和鼻腔异常"],[435609,"遗传性喉异常"],[435612,"遗传性气管异常"],[435623,"弃用：先天性无趾",["先天性无趾"]],[435628,"Keppen-Lubinsky综合征",["全身性脂肪营养不良-早老症-严重智力障碍综合征"]],[435638,"3p25.3微小缺失综合征",["智力障碍-癫痫-手刻板运动综合征"]],[435651,"CIDEC相关性家族性部分脂肪代谢障碍",["CIDEC相关的FPLD"]],[435660,"LIPE相关性家族性部分脂肪代谢障碍",["LIPE相关的FPLD"]],[435743,"先天性脐尿管异常"],[435804,"身材矮小-骨龄过高-早发性骨关节炎综合征"],[435808,"弃用：ACAN相关性骨骼发育不良"],[435819,"TFG突变所致常染色体显性遗传性夏科-马里-图斯病2型",["TFG突变导致的CMT2"]],[435845,"致命性新生儿痉挛-癫痫性脑病综合征",["致命性僵直-多灶性癫痫综合征"]],[435930,"球状视盘-黄斑萎缩-脉络膜视网膜病变综合征"],[435934,"COG2异常所致的先天性糖基化障碍",["COG2相关先天性糖基化障碍"]],[435938,"X连锁遗传性小头畸形-发育迟缓-下颌前突-隐睾综合征"],[435953,"早衰特征-肝细胞癌易感综合征",["Ruijs-Aalfs综合征"]],[435988,"慢性心房-肠道节律不齐综合征",["慢性心律失常-肠动力障碍"]],[435998,"常染色体隐性遗传性中间性夏科-马里-图斯病D型",["RI-CMT D型"]],[436003,"挛缩-发育迟缓-Pierre Robin综合征",["5q23 微缺失综合征"]],[436141,"严重智力障碍-肌张力减退-斜视-粗糙面容-扁平卵巢综合征"],[436144,"宫内生长受限-身材矮小-成年早期糖尿病综合征"],[436151,"智力障碍-表达性失语-面部畸形综合征",["智力障碍-语言表达障碍-面部畸形综合征"]],[436159,"CTLA4单倍剂量不足所致自身免疫性淋巴增生综合征",["CTLA-4单倍体剂量不足合并自身免疫性浸润性疾病"]],[436166,"周期性发热-小儿小肠结肠炎-自体炎症综合征",["NLRC4相关的自身免疫性疾病合并和巨噬细胞活化综合征"]],[436169,"血栓调节蛋白相关的出血性疾病",["血栓调节蛋白相关的凝血障碍"]],[436174,"白内障-生长激素缺乏症-感觉神经病-感觉神经性听力减退-骨骼发育不良综合征",["CAGSSS"]],[436182,"小头原发性侏儒症-胰岛素抵抗综合征"],[436242,"家族性房性心律失常-下希氏束心脏传导性疾病"],[436245,"色素性视网膜炎-青少年白内障-身材矮小-智力障碍综合征",["视网膜营养不良-青少年白内障-矮小综合征"]],[436252,"联合免疫缺陷病-肠病谱",["CID-MIA/早发性 IBD"]],[436271,"非进行性后空洞性脑白质病伴周围神经病"],[436274,"假性黄嘌呤弹力样皮肤表现伴色素性视网膜炎",["PEX样综合征合并色素性视网膜炎"]],[437552,"常染色体隐性遗传性原发性免疫缺陷伴有缺陷性NK细胞毒杀伤作用",["CD16 缺乏"]],[437572,"MYH7相关性迟发性肩胛腓骨部肌营养不良",["MYH7相关迟发型肩胛腓骨综合征"]],[438072,"酮体运输障碍"],[438075,"单羧酸盐转运蛋白1缺乏症所致酮症酸中毒"],[438114,"RARS相关常染色体隐性遗传性低髓鞘性脑白质营养不良"],[438117,"Steel 综合征",["双侧髋关节和桡骨骨头脱位-身材矮小-脊柱侧凸-腕骨联合-高足弓-面部畸形综合征"]],[438134,"PCNA相关性进行性神经退行性光敏综合征"],[438159,"STAT3相关性早发多系统自身免疫性疾病"],[438178,"脂酰基辅酶A还原酶1缺乏症",["FAR1缺乏"]],[438207,"严重常染色体隐性遗传性巨血小板减少症"],[438213,"PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征"],[438216,"点突变所致PURA相关性严重新生儿肌张力低下-癫痫-脑病综合征"],[438266,"进行性脑脊髓炎伴有强直及肌阵挛",["PERM"]],[438274,"GCGR相关高胰高血糖素血症",["马赫瓦什综合征"]],[438279,"正痘病毒感染"],[439167,"胎盘功能不全",["子宫胎盘血管功能不全"]],[439175,"小儿动脉缺血性中风",["儿童期动脉局部缺血性脑卒中"]],[439196,"锌反应性坏死性肢端红斑",["坏死性肢端红斑"]],[439202,"不可逆性产科臂丛神经病变",["慢性产科臂丛神经损伤"]],[439212,"早发性肌病-反射消失-呼吸窘迫-吞咽困难综合征",["EMARDD"]],[439218,"KCNQ2相关的癫痫性脑病",["KCNQ2相关新生儿癫痫性脑病"]],[439224,"ALECT2淀粉样变性",["白细胞趋化因子2淀粉样变性"]],[439232,"AApoAIV 淀粉样变性",["载脂蛋白A-IV淀粉样变性"]],[439246,"ABeta2M淀粉样变性",["Beta2-微球蛋白淀粉样变性"]],[439254,"ITM2B淀粉样变性",["ITM2B相关脑淀粉样变性血管病"]],[439729,"皮肤结节性多动脉炎",["皮肤结节性动脉周围炎"]],[439737,"原发性结节性多动脉炎",["原发性结节性动脉周围炎"]],[439746,"继发性结节性多动脉炎",["继发性结节性动脉周围炎"]],[439755,"单器官结节性多动脉炎",["单器官结节性动脉周围炎"]],[439762,"系统性结节性多动脉炎",["系统性结节性血管周围炎"]],[439822,"PDE4D单倍剂量不足综合征"],[439849,"常染色体隐性遗传性严重先天性中性粒细胞减少"],[439854,"糖原贮积病所致的致命性先天性肥厚型心肌病",["糖原病导致的致命性先天性肥厚型心肌病"]],[439881,"格鲁布性支气管炎",["假膜性支气管炎"]],[439897,"致命性胎儿脑肾泌尿生殖道发育不全/发育不全综合征"],[440221,"先天性动眼神经麻痹",["先天性第三颅神经麻痹"]],[440233,"先天性展神经麻痹",["良性先天性第六颅神经麻痹"]],[440354,"常染色体显性遗传性近视-中面部退缩-感音神经性听力减退-肢根发育不良综合征",["常染色体显性遗传性近视-中面部退缩-感音神经性耳聋-肢根发育不良综合征"]],[440368,"坏死性软组织感染",["NSTI"]],[440392,"SP-C缺乏引所致间质性肺疾病",["表面活性蛋白C缺乏导致的间质性肺病"]],[440402,"ABCA3缺乏所致间质性肺疾病",["ATP结合盒亚家族A成员3缺乏导致的间质性肺病"]],[440427,"MARS缺乏所致严重早发性肺泡蛋白沉着症",["遗传性肺泡蛋白沉着症伴肝脏累及"]],[440437,"X型家族性大肠癌",["FCCTX"]],[440701,"戊糖/多元醇代谢紊乱"],[440706,"核糖-5-磷酸异构酶缺乏症"],[440713,"孤立性景天庚酮糖激酶缺乏症",["孤立性FSHPK缺乏"]],[440724,"广泛视乳头周围有髓神经纤维"],[440727,"视网膜和视网膜色素上皮联合错构瘤",["视网膜和RPE联合错构瘤"]],[440731,"L-铁蛋白缺乏症"],[440987,"孤立性胆囊发育不良"],[441344,"弃用：常染色体隐性遗传性视神经萎缩，OPA9型"],[441434,"症状性遗传性视神经病变"],[441447,"早发性后囊状白内障"],[441452,"早发性片状性白内障"],[442582,"AH淀粉样变性",["中联淀粉样变性"]],[442835,"未确定的早发性癫痫性脑病",["未确定EOEE"]],[443057,"零星迟发性皮肤卟啉症",["迟发性皮肤卟啉症I型"]],[443062,"家族性迟发性卟啉症皮肤",["迟发性皮肤卟啉症II型"]],[443070,"连续性半侧颅痛"],[443073,"夏科-马里-图斯病2S型",["CMT2S"]],[443079,"中心性浆液性脉络膜视网膜病变",["CSCR"]],[443084,"压力反射障碍"],[443087,"睾丸17,20-碳链裂解酶缺乏所致的46,XY 性发育障碍"],[443090,"双氢睾酮合成途径缺陷所致46,XY 性发育障碍"],[443095,"高胰岛素所致低血糖症"],[443098,"内侧颅骨增生"],[443101,"下丘脑脂肪性高钠血症综合征"],[443159,"不产IgM的淋巴浆细胞性淋巴瘤",["不产IgM的淋巴浆细胞性淋巴瘤"]],[443162,"NDE1相关微积水性无脑",["MHAC"]],[443167,"NUT中线癌",["NMC"]],[443173,"产后精神病",["产褥期精神病"]],[443180,"自发性颅内低压",["自发性脑脊液漏"]],[443192,"经典僵人综合征",["金典SPS"]],[443197,"X连锁遗传性红细胞生成性原卟啉症",["X连锁显性红细胞生成性原卟啉症"]],[443227,"副伤寒"],[443236,"NET缺乏所致体位性心动过速综合征",["去甲肾上腺素转运蛋白缺乏导致家族性体位性心动过速"]],[443287,"罕见产皮质醇肾上腺肿瘤所致ACTH非依赖性库欣综合征"],[443291,"HIV相关癌症",["HIV相关肿瘤"]],[443301,"弃用:HIV相关肺癌"],[443304,"弃用:HIV相关口咽癌"],[443307,"弃用:HIV相关肛门癌"],[443310,"弃用:HIV相关肝细胞癌"],[443313,"弃用:HIV相关阴茎癌"],[443316,"弃用:HIV相关霍奇金淋巴瘤"],[443319,"弃用:HIV相关外阴阴道癌"],[443322,"弃用:HIV相关宫颈癌"],[443325,"弃用:HIV相关非霍奇金淋巴瘤"],[443328,"弃用:HIV相关卡波西肉瘤"],[443804,"局部肢体僵硬综合征",["局部僵直综合征"]],[443811,"PGM3突变所致先天性糖基化障碍",["PGM3相关先天性糖基化异常"]],[443909,"遗传性非息肉病性结肠癌",["遗传性非息肉病性结直肠癌"]],[443950,"DNAJB2相关Charcot-Marie-Tooth病 2型",["DNAJB2相关 CMT2"]],[443988,"脑室扩大-囊性肾脏疾病",["先天性肾病-脑室扩大综合征"]],[443995,"下颌面骨发育不全伴脱发",["MFDA"]],[444002,"11q22.2q22.3微缺失综合征",["11q22.2q22.3单体"]],[444013,"联合氧化磷酸化缺陷23型",["COXPD23"]],[444048,"46，XX，卵巢发育不良-矮小综合征/卵巢发育不全4型"],[444051,"20q11.2微缺失综合征",["20q11单体"]],[444069,"致死性胎儿脑发育不良-十二指肠闭锁-双侧肾发育不全综合征/Stromme综合症"],[444072,"小脑面齿综合征",["小脑面齿综合征"]],[444077,"先天发育异常-粗大面容-心脏缺陷-肥胖-肺部受累-身材矮小-骨骼发育异常综合征/CHOPS综合征",["CHOPS综合征"]],[444092,"自身免疫性间质性肺病-关节炎综合征",["COPA综合征"]],[444099,"常染色体显性遗传性痉挛性截瘫73型",["SPG73"]],[444116,"遗传性淀粉样变性"],[444138,"脱皮-白甲-肢端点状角化-唇炎-指节垫综合征 PLACK综合征",["PLACK综合征"]],[444316,"特发性指骨肢端溶解",["特发性指骨肢端溶解"]],[444458,"联合氧化磷酸化缺陷24型",["COXPD24"]],[444463,"自身免疫性溶血性贫血-自身免疫性血小板减少原发性免疫缺陷综合征",["TRIANGLE疾病"]],[444490,"家族性乳糜微粒血症综合征"],[444916,"假性低醛固酮增多症"],[444941,"尾侧蜕化-并肢畸形谱系"],[445018,"LRBA缺陷相关联合免疫缺陷病",["LRBA缺乏导致的CID"]],[445038,"3-甲基戊酸尿症7型",["3-甲基谷氨酸酸尿症-白内障-神经系统受累-中性粒细胞减少综合征"]],[445062,"青少年型糖尿病合并中枢和外周神经系统退行性变",["小脑和周围性联合共济失调-耳聋-糖尿病综合征"]],[445110,"POMK缺陷导致肢带肌型肌营养不良",["POMK缺乏导致的LGMD"]],[445197,"继发性血管炎"],[447731,"NIK缺乏症",["合并多种淋巴免疫异常的原发性免疫缺陷病"]],[447737,"DPOCK2缺乏/免疫缺陷病40型"],[447740,"局部青少年型牙周炎易感"],[447753,"常染色体显性痉挛性截瘫9A型",["痉挛性轻瘫-肌病-白内障-胃食管反流综合征"]],[447757,"常染色体显性痉挛性截瘫9B型",["AD-SPG9B"]],[447760,"常染色体显性痉挛性截瘫9B型",["AR-SPG9B"]],[447764,"IgG4相关硬化性胆管炎"],[447771,"硬化性胆管炎"],[447774,"继发型硬化性胆管炎"],[447777,"角化囊性牙源性肿瘤",["牙源性角化囊肿"]],[447784,"线粒体丙酮酸载体缺乏症"],[447788,"脑视觉障碍",["皮层视区受损"]],[447792,"血色素沉着症5型"],[447795,"脂酰转移酶2缺乏症"],[447874,"无临床表型的生物学指标异常"],[447877,"聚合酶校对相关腺瘤性息肉病",["PPAP"]],[447881,"特发性歪头综合征",["特发性颈伸肌肌病"]],[447893,"胼胝体小脑发育不良伴髓鞘化落后"],[447896,"震颤性共济失调伴中枢性髓鞘发育落后综合征",["TACH综合征"]],[447954,"联合氧化磷酸化缺陷25型",["COXPD25"]],[447961,"色素沉着-掌跖角化-皮肤癌综合征"],[447964,"常染色体显性轴索型腓骨肌萎缩症2V型",["NAGLU突变导致的常染色体显性Charcot-Marie-Tooth病2型"]],[447974,"克-佩氏综合征"],[447977,"进行性近端肩胛肱腓型肌病"],[447980,"19p13.3微重复综合征",["(19)(p13.13)重复"]],[447985,"19号染色体短臂部分重复",["19号染色体短臂部分三体"]],[447997,"痉挛性四肢瘫痪-胼胝体发育不良-生后进行性小头畸形",["ASCT1缺乏"]],[448010,"先天性糖基化异常疾病",["碳水化合物缺乏糖蛋白综合征lz型"]],[448237,"寨卡病毒疾病",["寨卡病毒感染"]],[448242,"常染色体隐性遗传血吸虫病",["Hobaek/Toledo型血吸虫病"]],[448251,"进行性常染色体隐性共济失调-耳聋综合征",["进行性常染色体隐性共济失调-感音神经性听力损伤综合征"]],[448264,"单发的局灶性非表皮溶解的掌跖角化病"],[448267,"退行性脊椎干骺端结构不良"],[448270,"异位心"],[448348,"X连锁点突变导致的肢端畸形",["点突变导致的X-LAG（X连锁肢端畸形）"]],[448372,"X连锁Xq26微缺失导致的肢端畸形",["(X)q(26)重复导致的X-LAG"]],[448426,"遗传原位体位性低血压"],[449262,"欧洲非罕见：原发性胆汁酸吸收不良"],[449266,"胸腔积脓"],[449280,"赛多银屑病"],[449285,"蛇咬中毒"],[449291,"脆性X综合征女性携带者的症状"],[449395,"IgG4相关肾病"],[449400,"IgG4相关主动脉炎"],[449427,"IgG4相关硬脑膜炎",["特发性增生肥厚性脑膜炎"]],[449432,"IgG4相关的下颌下腺疾病",["IgG4相关涎腺炎"]],[449563,"IgG4相关的眼科疾病"],[449566,"嗜酸性血管中心性纤维变性",["lgG4相关嗜酸性血管中心性纤维变性"]],[450322,"多克隆高粘度综合征"],[451602,"原发性皮肤浆细胞增多症"],[451607,"皮肤假性淋巴瘤"],[451612,"家族性先天性鼻泪管阻塞"],[453499,"神经发育障碍-颅面畸形-心脏缺损-骨骼异常综合征",["金氏综合征"]],[453504,"点突变引起的神经发育障碍-颅面畸形-心脏缺陷-骨骼异常综合征"],[453510,"先天性痛觉不敏感合并严重智力障碍",["先天性痛觉不敏感合并严重非进展性智力障碍"]],[453521,"CWF19L1缺失相关常染色体隐性小脑共济失调",["常染色体隐性脊髓小脑共济失调17型"]],[453533,"多内分泌腺-多神经累及综合征"],[454700,"获得性克雅氏病"],[454706,"进行性肌萎缩",["PMA"]],[454710,"抗p-200类天疱疮"],[454714,"浆细胞白血病",["PCL"]],[454718,"福尔摩斯·阿迪综合症",["强直性瞳孔-腱反射消失综合征"]],[454723,"子宫内膜样卵巢癌"],[454742,"多种蛋白酶敏感性疾病"],[454745,"库鲁病"],[454750,"孤立性气管食管瘘",["H型气管食管瘘"]],[454821,"多形唾液腺腺瘤"],[454831,"急性放射病综合征",["急性放射病"]],[454836,"禽流感"],[454840,"NTHL1相关性减毒家族性腺瘤性息肉病",["NTHL1相关减毒性 FAP"]],[454872,"已废除：1型干扰素合并免疫缺陷"],[454887,"皮质基底动脉综合征"],[456298,"1p35.2微缺失综合征",["1p35.2单体"]],[456312,"婴儿多系统累及的神经-内分泌-胰腺疾病",["IMNEPD"]],[456318,"遗传性感觉神经疾病-耳聋-痴呆综合征",["遗传性感觉神经病-感觉神经性听力减退-痴呆综合征"]],[456328,"X连锁-肌管性肌病-生殖器异常综合征",["Xq28连续基因缺失综合征"]],[456333,"遗传性小肠神经内分泌肿瘤",["遗传性小肠神经内分泌肿瘤"]],[456369,"聚葡聚糖体2型肌病"],[457050,"常染色体显性线粒体肌病伴运动性不耐受"],[457059,"假性甲状旁腺功能减退症合并奥尔布赖特遗传性骨发育不全"],[457062,"假性甲状旁腺功能减退症不合并奥尔布赖特遗传性骨发育不全"],[457074,"先天性线形体肌病"],[457077,"TAFRO综合征",["血小板减少症-全身水肿-发热-肾功能不全-器官肿大综合征"]],[457083,"单发脾生殖腺融合",["SGF"]],[457088,"CARD9缺陷导致侵袭性真菌感染易感",["侵袭性念珠菌病-深部皮肤癣菌综合症"]],[457095,"放线菌病"],[457185,"新生儿脑性肌病-心肌病-呼吸窘迫综合征",["COQ4相关先天性脑病"]],[457193,"常染色体显性遗传性智力障碍-颅面畸形-心脏缺陷综合征"],[457205,"婴幼儿发作的轴突运动和感觉神经病变-视神经萎缩-神经退行性综合征",["ANOAC"]],[457212,"进行性原发性震颤-言语障碍-面部畸形-智力障碍行为异常综合征"],[457223,"联合氧化磷酸化缺陷导致的综合征性感音神经性耳聋",["COXPD导致的综合征性感音性耳聋"]],[457240,"X连锁-智力障碍-身材矮小-超重综合征"],[457246,"肾透明细胞肉瘤",["CCSK"]],[457252,"口舌鳞状上皮细胞癌",["口舌鳞状上皮细胞癌"]],[457260,"X连锁-智力障碍-肌张力低下-运动障碍综合征"],[457265,"进行性肌阵挛性癫痫9型",["LMNB2缺陷导致的进行性肌阵挛性癫痫"]],[457279,"智力障碍-巨颅畸形-肌张力低下-行为异常综合征"],[457284,"小头畸形-胼胝体发育不良-智力发育不良-面部畸形综合征"],[457351,"小头畸形-智力障碍-感音性听力障碍-癫痫-肌张力异常综合征",["小头畸形-智力障碍-感音神经性耳聋-癫痫-异常肌张力综合征"]],[457359,"巨颅畸形-严重脊柱后凸-过度生长综合征"],[457365,"智力障碍-肌肉无力-身材矮小-面部畸形综合征"],[457375,"ITPA相关的致命性婴儿期神经系统疾病伴白内障和心脏疾病",["马尔索夫样综合征"]],[457378,"复杂致死性骨软骨发育不良",["复杂致死性骨软骨发育不良，Symoens-Barnes-Gistelinck型"]],[457395,"进行性脊椎干骺端发育不全-身材矮小-第四跖骨短-智力障碍综合征"],[457406,"多发性线粒体功能障碍综合征4型",["MMDS4"]],[457485,"巨颅畸形-智力发育迟缓-神经发育迟缓-小胸廓-综合征",["史密斯·金斯莫尔综合征"]],[458713,"欧洲非罕见：特定语言障碍"],[458718,"特发性自发性冠状动脉夹层",["特发性SCAD"]],[458758,"复合性血管内皮瘤"],[458763,"网状血管内皮瘤"],[458768,"原发性淋巴管内血管内皮瘤",["达布斯卡肿瘤"]],[458775,"先天性血管瘤"],[458785,"部分内卷的遗传性血管瘤"],[458792,"混合性囊性淋巴畸形",["混合性囊性淋巴管瘤"]],[458798,"脊髓小脑共济失调41型",["SCA41"]],[458803,"脊髓小脑共济失调42型",["SCA42"]],[458827,"血管瘤相关畸形"],[458830,"罕见毛细血管畸形及相关异常"],[458833,"常见的囊性淋巴畸形"],[458837,"罕见联合血管畸形"],[458841,"已废除：原发性淋巴水肿及相关异常"],[458844,"罕见大血管畸形"],[459033,"共济失调动眼性失用4型",["AOA4"]],[459051,"脊柱骨骺发育不良，斯特内斯库型",["斯特内斯库型SED"]],[459056,"常染色体显性痉挛性截瘫75型",["SPG75"]],[459061,"颅面发育不良-身材矮小-外胚层异常-智力障碍综合征",["发育延迟-身材矮小-畸形特征-头发稀疏综合症"]],[459070,"X连锁-智力障碍-小脑发育不全-脊椎骨骺发育不良综合征"],[459074,"胼胝体发育不良-巨颅畸形-器官间距过远综合征",["7q36.3微重复综合征"]],[459345,"补体级联成份缺乏引起的免疫缺陷病"],[459348,"补体调节缺陷引起的免疫缺陷病"],[459353,"补体C1抑制因子缺乏"],[459526,"遗传性罕见毛细血管畸形"],[459530,"已废除：遗传性原发性淋巴水肿"],[459537,"遗传复杂血管畸形及相关异常",["遗传性血管淋巴管瘤"]],[459543,"遗传性罕见静脉肿瘤"],[459548,"遗传性罕见静脉畸形"],[459690,"欧洲非罕见：病理性心境恶劣"],[459696,"欧洲非罕见：幼年特发性脊柱侧凸"],[459787,"致死性先天性多发畸形"],[464282,"痉挛性截瘫-严重发育迟缓-癫痫综合征",["痉挛性截瘫-精神运动迟缓-癫痫综合征"]],[464288,"身材矮小-短指畸形-肥胖-近身肥胖-前面发育迟缓综合征",["SBIDDS"]],[464293,"欧洲非罕见：婴儿毛细血管血管瘤"],[464306,"DYRK1A相关的智力障碍",["DYRK1A syndrome"]],[464311,"DYRK1A点突变相关的智力障碍",["DYRK1A点突变相关的智力障碍综合症"]],[464318,"疣状血管瘤"],[464321,"多灶性淋巴管内皮细胞增生症-血小板减少症",["多灶性淋巴管内皮细胞增生症-血小板减少症"]],[464329,"卡波西氏淋巴管瘤病"],[464336,"BENTA疾病",["B细胞扩张伴NF-kB和T细胞无反应性疾"]],[464343,"灾难相关抗磷脂综合征",["灾难相关APS"]],[464359,"良性肾肿瘤"],[464366,"NEK9相关致死性骨发育不良",["致命性骨骼发育不良-胎儿运动障碍-挛缩-胸廓发育不良-肺发育不全综合征"]],[464370,"新生儿同种免疫中性粒细胞减少"],[464440,"DYT27型原发性张力障碍"],[464443,"先天性糖基化障碍IIL型",["先天性糖基化障碍IIL型"]],[464453,"获得性高铁血红蛋白血症",["药物诱导的高铁血红蛋白血症"]],[464458,"扑热息痛中毒",["醋氨酚中毒"]],[464463,"欧洲非罕见：胃腺癌",["胃腺癌"]],[464682,"已废除：急性婴儿肝衰竭相关疾病"],[464724,"发热相关的急性婴儿肝衰竭综合征"],[464738,"先天性白内障-小头畸形-单纯性痣-严重智力障碍综合征"],[464756,"家族性胃神经内分泌肿瘤1型"],[464760,"家族性空洞性视盘异常",["家族性CODA"]],[464764,"免疫介导的获得性神经肌肉接头疾病"],[465508,"1型血色素沉着病的症状",["HFE相关的遗传性血色素沉着病的症状"]],[465824,"胎儿包埋综合征"],[466026,"I类葡萄糖-6-磷酸脱氢酶缺乏症",["G6PD缺乏导致的严重溶血性贫血"]],[466066,"遗传性血红蛋白病"],[466084,"遗传性耳鼻喉疾病"],[466650,"运动诱发的恶性高热",["劳力性热射病"]],[466658,"罕见病相关恶性高热"],[466667,"欧洲非罕见：结直肠癌"],[466670,"氰化物中毒"],[466673,"欧洲非罕见：疱疹后神经痛"],[466677,"蝎毒"],[466682,"甲状腺肿相关眼病",["甲状腺肿相关眼病"]],[466688,"严重智力障碍-胼胝体发育不良-面部畸形-小脑共济失调综合征"],[466695,"鼻尖发育异常"],[466703,"TMEM199相关糖基化异常疾病",["碳水化合物缺乏糖蛋白综合征llp型"]],[466718,"马提尼克褶皱性视网膜色素上皮病变",["MCRPE"]],[466722,"常染色体显性痉挛性截瘫77型",["SPG77"]],[466729,"家族性动脉导管未闭"],[466732,"已废除：致死性短颈肌多囊肾疾病先天性心脏缺陷综合征",["吉列森-凯斯巴赫-西村综合征"]],[466768,"常染色体显性Charcot-Marie-Tooth病2Z型",["CMT2Z"]],[466775,"常染色体隐性Charcot-Marie-Tooth病2X型",["SPG11突变导致的常染色体隐性Charcot-Marie-Tooth病2型"]],[466784,"线粒体甲基化缺陷引起的新生儿严重心肺衰竭",["复合氧化磷酸化缺陷28型"]],[466791,"巨颅畸形-智力发育迟缓-左心室肌致密化不全综合征"],[466794,"急性婴儿肝功能衰竭-小脑共济失调-周围感觉运动神经病综合征",["常染色体隐性脊髓小脑性共济失调21型"]],[466801,"LIMS2相关的肢带肌营养不良症",["常染色体隐性肢带肌营养不良2W型"]],[466806,"常染色体显性血小板减少症伴血小板分泌缺陷"],[466921,"儿童期起病的进行性挛缩-四肢束带无力-肌肉营养不良综合征"],[466926,"癫痫-脊髓灰质炎-大头畸形综合征",["SSM综合征"]],[466934,"VPS11相关常染色体隐性遗传性脑白质营养不良-髓鞘发育不良病",["VPS11相关常染色体隐性脑白质营养不良-髓鞘发育不良病"]],[466943,"WAC相关面部畸形-发育迟缓-行为异常综合征"],[466950,"WAC突变引起的面部畸形-发育迟缓-行为异常综合征"],[466962,"SMARCA4相关胸部肉瘤",["SMARCA4缺乏导致的胸肉瘤"]],[467166,"肾小管病相关记忆障碍",["脑干不对称-小脑上部和基底神经节发育不良综合征"]],[467176,"严重肌张力低下-精神运动发育迟缓-斜视-心脏间隔缺损综合征"],[468620,"智力障碍-癫痫-锥体束外综合征"],[468631,"RTTN缺乏相关的小头畸形-原发性矮小症"],[468635,"隐源性多灶性溃疡性狭窄性肠炎",["CMUSE"]],[468641,"SLCO2A1相关慢性肠病",["CEAS"]],[468661,"常染色体显性痉挛性截瘫74型",["SPG74"]],[468666,"单发的全身性无汗症伴正常汗腺"],[468672,"疣状巨眼-小角膜综合征",["MACOM综合征"]],[468678,"智力障碍-小头畸形-斜视-行为异常综合征",["怀特-萨顿综合征"]],[468684,"IIo型先天性糖基化疾病",["碳水化合物缺乏糖蛋白综合征llo型"]],[468699,"SLC39A8相关糖基化障碍疾病",["碳水化合物缺乏糖蛋白综合征lln型"]],[468717,"根状软骨部分发育不良5型"],[468726,"严重的原发性三甲基尿症",["TMAU"]],[471383,"遗传致死性多发性先天畸形综合征"],[474347,"罕见的先天性室间隔发育异常",["先天性室间隔异常"]],[476084,"BVES相关的肢带肌营养不良症",["常染色体隐性肢带肌营养不良症-心律失常综合征"]],[476093,"常染色体显性遗传性远端轴突运动神经病-肌原纤维肌病综合征"],[476096,"皮肤红色角化病-心肌病综合征",["EKC综合征"]],[476102,"遗传性儿科Behpet样疾病",["A20单倍剂量不足导致的Behcet样疾病"]],[476109,"遗传性轴突相关运动和感觉神经病",["轴索HMSN"]],[476113,"TFRC缺陷导致联合免疫缺陷",["TFRC相关联合免疫缺陷"]],[476116,"遗传性运动和感觉神经脱髓鞘病",["HMSN脱髓鞘"]],[476119,"常染色体显性遗传性前轴多指-上背部肥大综合征"],[476123,"中间亚型夏洛克-玛丽齿病",["中间亚型遗传性运动和感觉神经病"]],[476126,"小下颌畸形-反复感染-行为异常-轻度智力障碍综合征"],[476394,"PMP2相关Charcot-Marie-Tooth病1型",["PMP2相关1型遗传性运动和感觉神经病"]],[476403,"肌肉收缩高度僵直综合征"],[476406,"遗传性全身过度收缩性肌肉僵硬综合征"],[477647,"1型干扰素病"],[477650,"成纤维细胞性风湿病"],[477661,"白介素21相关婴儿炎症性肠病",["IL12相关婴儿IBD"]],[477668,"已废除：AymÚ-Gripp综合征"],[477673,"出生后小头畸形-小儿肌张力低下-痉挛性截瘫-构音障碍-智力障碍综合征"],[477684,"复合氧化磷酸化缺陷26型",["COXPD26"]],[477697,"已废除：遗传性血小板减少症-血液系统癌症易感综合征",["血液系统肿瘤的家族性血小板疾病"]],[477738,"儿童多发性硬化"],[477742,"增生性筋膜炎",["假肉瘤性纤维瘤病"]],[477749,"常染色体显性脑桥微血管病合并白质病",["PADMAL"]],[477754,"遗传性大脑小血管疾病"],[477759,"COL4A1或COL4A2相关脑血管疾病",["COL4A1或COL4A2相关脑血管疾病"]],[477762,"COL4A1或COL4A2相关脑血管疾病合并梗死倾向",["COL4A1或COL4A2相关脑血管疾病合并梗死倾向"]],[477765,"COL4A1或COL4A2相关脑血管疾病合并出血倾向",["COL4A1或COL4A2相关脑血管疾病合并出血倾向"]],[477768,"烟雾病"],[477771,"罕见病合并烟雾病"],[477774,"复合氧化磷酸化缺陷27型",["COXPD27"]],[477781,"原发性踝增生",["1型踝增生"]],[477787,"胞质磷脂酶-A2α缺乏相关的出血性疾病",["PLAG4A相关的血小板功能障碍"]],[477794,"综合征性全身性血小板减少"],[477797,"单发的先天性血小板减少症",["先天性血小板减少症不合并血液系统外症状"]],[477805,"遗传性心脏畸形"],[477808,"其他遗传性皮肤病"],[477811,"罕见高胆固醇血症"],[477814,"进行性小头畸形-癫痫-皮质盲-发育迟缓综合征"],[477817,"PMP22-RAI1临近基因重复综合征",["染色体17p11.2p12微重复综合征"]],[477831,"骨骼过度生长-颅面畸形-皮肤弹性过强-白质病变综合征",["Kosaki过度增生综合征"]],[477857,"RORγ受体缺陷导致的常染色体隐性遗传的分枝杆菌病易感",["RORγ受体完全缺失导致的常染色体隐性遗传的分枝杆菌病易感"]],[477993,"腭畸形-牙齿间距大-面部畸形-发育迟缓综合征",["腭畸形-多发性纵裂-面部畸形-发育迟缓综合症"]],[478029,"复合氧化磷酸化缺陷29型",["COXPD29"]],[478042,"复合氧化磷酸化缺陷30型",["COXPD30"]],[478049,"致命性左心室肌致密化不全-肌张力低下-白内障-发育迟缓综合征"],[478664,"遗传性感觉和自主神经病8型",["Hereditary sensory and autonomic neuropathy type VIII"]],[480476,"进行性家族性肝内胆汁淤积5型",["NR1H4缺陷"]],[480483,"进行性家族性肝内胆汁淤积4型",["TJP2缺陷"]],[480491,"MYO5B相关的进行性家族性肝内胆汁淤积",["MYO5B缺陷"]],[480501,"胆总管囊肿",["胆道先天性囊肿性扩张"]],[480506,"原发性肝内结石",["原发性肝内胆管结石病"]],[480512,"特发性胆管发育不良",["特发性成人胆管发育不良"]],[480520,"卡罗利综合征/先天性肝内胆管扩张症"],[480524,"特发性紫癜性肝炎",["Idiopathic peliosis hepatitis"]],[480528,"致死性积水性无脑畸形-膈疝"],[480531,"先天性门体静脉分流",["先天性门体静脉瘘"]],[480536,"MSH3相关家族性腺瘤性息肉病",["MSH3相关家族性结肠息肉病"]],[480541,"高级别B细胞淋巴瘤合并MYC/BCL2/BLC6重排"],[480549,"非严重联合免疫缺陷",["Non-SCID"]],[480553,"动脉瘤性骨囊肿"],[480556,"孤立性新生儿硬化性胆管炎"],[480682,"POGLUT1相关肢肌营养不良R21型",["常染色体隐性肢肌营养不良2Z型"]],[480701,"面部瘫痪伴感觉异常",["Guillain-Barré综合征的面部瘫痪伴感觉异常"]],[480773,"已废除：腓骨发育不全-胫骨弯曲带-单并指综合征"],[480851,"遗传性血小板减少伴早发性骨髓纤维化"],[480864,"复发性代谢性脑脊髓病-横纹肌溶解症-心脏心律不齐-智力障碍综合征",["TANGO2-related metabolic encephalopathy-arrhythmia syndrome"]],[480880,"X连锁-仅限于女性-面部畸形-身材矮小-鼻后孔闭锁-智力障碍",["X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"]],[480898,"全面发育迟缓-视觉异常-进行性小脑萎缩-横断性肌张力低下综合征"],[480907,"X连锁-智力障碍-全面发育迟缓-面部畸形-尾椎存在综合征"],[481152,"PYCR2相关小头畸形-进行性脑白质发育不良"],[481469,"胃神经内分泌肿瘤1型",["GNET type 1"]],[481475,"胃神经内分泌肿瘤2型",["GNET type 2"]],[481478,"胃神经内分泌肿瘤3型",["GNET type 3"]],[481481,"胃神经内分泌肿瘤4型",["GNET type 4"]],[481508,"胃肠神经内分泌肿瘤"],[481662,"家族性雪白狼疮"],[481665,"USP18缺乏症"],[481671,"儿童1型干扰素病"],[481771,"遗传性脱发"],[481986,"家族性脑裂"],[482072,"HTRA1相关大脑小血管疾病",["HTRA1相关脑血管病"]],[482077,"HTRA1相关常染色体显性大脑小血管疾病",["HTRA1相关常染色体显性脑血管病"]],[482092,"罕见的特发性黄斑毛细血管扩张"],[482601,"腺苷琥珀酸合成酶样1相关远端肌病",["ADSSL1-related distal myopathy"]],[482606,"X连锁-瘢痕疙瘩-关节活动度降低-视杯视盘比增大综合征"],[485275,"获得性脑裂"],[485350,"CLCN4相关X 连锁的智力障碍综合征",["Raynaud-Claes syndrome"]],[485358,"丙基硫氧嘧啶胚胎脂肪病",["PTU embryofetopathy","PTU embryopathy","Propylthiouracil embryopathy"]],[485382,"遗传性非获得性卵巢早衰"],[485405,"16p12.1p12.3三体综合征",["染色体16p12.1p12.3三体综合征"]],[485418,"EMILIN-1相关结缔组织病"],[485421,"线粒体和过氧化物酶体分裂缺陷导致的MFF相关性脑病",["Leigh样基底节病-视神经萎缩-周围神经病变综合征"]],[485426,"单发先天性肝硬化",["Isolated CHF"]],[485631,"先天性胆汁酸合成缺陷",["胆汁酸合成缺陷"]],[486811,"出生后脊髓性肌萎缩伴先天性骨折",["脊髓性肌萎缩伴骨折"]],[486815,"先天性肌营养不良-呼吸衰竭-皮肤异常-关节松弛症",["先天性肌营养不良Davignon-Chauveau型"]],[486955,"罕见的儿童风湿病"],[487796,"巨血小板减少-淋巴水肿-发育迟缓-面部畸形-先天性指屈曲综合征",["Takenouchi-Kosaki综合征"]],[487809,"儿童胶原性胃炎",["Childhood-onset collagenous gastritis"]],[487814,"常染色体显性Charcot-Marie-Tooth病2型DGAT2突变相关",["夏洛特-玛丽齿病2型DGAT2突变相关"]],[487825,"皮尔庞特综合征",["足底脂肪瘤样病-面部畸形-发育迟缓综合征"]],[488168,"小头畸形-先天性白内障-银屑病性皮炎综合征",["甾醇-C4-甲基氧化酶缺乏症"]],[488191,"卵母细胞减数分裂停滞引起的女性不育"],[488197,"家族性进行性视网膜营养不良-虹膜裂-先天性白内障综合征"],[488201,"欧洲非罕见：非小细胞肺癌",["非小细胞肺癌"]],[488232,"足裂畸形-中轴多指综合征",["SFMMP","Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"]],[488239,"急性黄斑神经视网膜病变",["AMNR"]],[488265,"骨纤维异样增殖症",["OFD"]],[488280,"14q32重复综合征",["14q32重复导致的成人易感性骨髓增生性肿瘤"]],[488333,"常染色体显性Charcot-Marie-Tooth病2W型",["HARS突变导致的常染色体显性夏洛特-玛丽齿病2型"]],[488434,"先天性指屈曲综合征-瓜达拉哈拉3型"],[488437,"SIX2相关鼻发育不良",["SIX2-related FND"]],[488586,"先天性肌肉发育不良",["先天性肌肉发育不全"]],[488594,"常染色体隐性痉挛性截瘫76型",["痉挛性截瘫76型"]],[488613,"全球发育迟缓-神经-眼异常-癫痫发作-智力障碍综合征"],[488618,"转酮醇酶缺乏症",["身材矮小-发育迟缓-先天性心脏缺陷综合症"]],[488627,"严重的生长发育缺陷-斜视-广泛的皮肤黑素细胞增多症-智力障碍综合征"],[488632,"TBCK相关智力障碍综合征"],[488635,"早发性癫痫智力障碍大脑发育不良综合征",["PIGG缺乏导致的先天性糖基化紊乱"]],[488642,"TELO2相关智力障碍-精神发育迟缓",["You-Hoover-Fong综合征"]],[488647,"DDX41相关的血液恶性肿瘤易感综合征"],[488650,"立山型远端肌病"],[493342,"振动性荨麻疹"],[493348,"振动性血管性水肿"],[494344,"RERE相关神经发育综合征"],[494348,"家族性早发性非肝硬化门脉高压症"],[494418,"外阴癌",["Carcinoma of vulva"]],[494421,"骶尾部畸胎瘤"],[494424,"颅外颈动脉瘤",["ECCA"]],[494428,"特发性胸膜实质纤维弹性组织增生",["Idiopathic pleuropulmonary fibroelastosis"]],[494433,"MIRAGE综合征",["骨髓增生异常-感染-生长受限-肾上腺功能减退-生殖器表型-肠病综合征"]],[494439,"色素性视网膜炎-听力障碍-早衰-身材矮小-面部畸形综合征",["色素性视网膜炎-耳聋-早衰-身材矮小-面部畸形综合征"]],[494444,"DIAPH1相关的感觉神经性听力减退-血小板减少综合征",["DIAPH1相关的感觉神经性耳聋-血小板减少综合征"]],[494448,"外阴鳞状细胞癌",["Squamous cell carcinoma of the vulva"]],[494451,"外阴基底细胞癌",["Basal cell carcinoma of vulva"]],[494454,"外阴腺癌",["Adenocarcinoma of the vulva"]],[494457,"罕见多动障碍"],[494526,"婴儿期发作的广泛性运动障碍伴口面部受累",["婴儿期发作的口面-躯干-肢体运动障碍"]],[494541,"儿童期良性舞蹈症伴纹状体受累"],[494547,"下咽鳞状细胞癌"],[494550,"喉鳞状细胞癌"],[495274,"夏科特-玛丽齿病2T型",["常染色体隐性夏洛特-玛丽齿病2T型"]],[495818,"9q33.3q34.11微缺失综合征",["9q33.3q34.11单体"]],[495844,"C11ORF73相关的常染色体隐性遗传性髓鞘发育不良-脑白质营养不良症",["Hikeshi缺乏导致低髓鞘化脑白质营养不良症"]],[495875,"先天性阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征",["先天性大阴唇或阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征"]],[495879,"先天性阴囊发育不全",["Congenital scrotal agenesis"]],[495930,"家族性7号染色单体综合征"],[496641,"早发型进行性弥漫性脑萎缩-小头肌-肌无力-视神经萎缩综合征"],[496686,"脊柱后凸-舌单侧萎缩-肌原纤维肌病综合征"],[496689,"脊柱侧凸-舌单侧萎缩-遗传性痉挛性截瘫综合征",["Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"]],[496693,"脐膨出-膈疝-心血管异常-放射线缺陷综合征",["Gershoni-Baruch综合征"]],[496751,"EVEN叠加综合征",["骨骺-脊椎-耳发育不良-鼻-附加性相关病变综合征"]],[496756,"早发性进行性脑病-痉挛性共济失调-远端脊髓性肌萎缩症"],[496790,"眼部异常-轴突神经疾病-发育迟缓综合征",["Harel-Yoon综合征"]],[496916,"罕见遗传性运动亢进症"],[496924,"非炎性血管病"],[497188,"弥漫性真性脑桥神经胶质",["DIPG"]],[497623,"C12ORF65相关的联合氧化磷酸化缺陷",["C12ORF65-related COXPD"]],[497737,"表皮松解色素痣",["表皮色素痣伴表皮松解型角化过度症"]],[497757,"MME相关常染色体显性Charcot-Marie-Tooth病2型",["MME相关常染色体显性遗传性运动和感觉神经病2型"]],[497764,"脊髓小脑共济失调43型",["SCA43"]],[497906,"儿童发病的基底节退行性变综合征",["Lenk-Ploski综合征"]],[498228,"前列腺叶状肿瘤",["叶状不典型前列腺增生"]],[498251,"月经周期相关的周期性发热",["Luteal-phase-dependent febrile episode","Luteal-phase-dependent periodic fever","Menstrual cycle-dependent febrile episode"]],[498345,"胆道闭锁及相关疾病"],[498350,"综合征性胆道闭锁"],[498359,"水源性掌跖角化病",["短暂反应性丘疹半透明性角化病"]],[498445,"遗传性炎症或类风湿性骨关节病"],[498448,"累及骨骼的过度生长或身材高大综合征"],[498451,"骨发育不全-短指畸形不伴有骨骼外表现"],[498454,"骨发育不全-短指畸形合并骨骼外表现"],[498457,"纵向肢体缺损"],[498461,"末端横断性肢体缺陷"],[498464,"非综合征性轴前多指症"],[498467,"非综合征性轴后多指症"],[498470,"非综合征性复杂多指症"],[498474,"透明质纤维瘤病综合征"],[498477,"先天性缺指合并或不合并其他畸形"],[498481,"LRP5相关原发性骨质疏松症"],[498485,"过度生长-干骺端发育不良-脊柱发育不良综合征"],[498488,"过度生长综合征合并2q37易位"],[498491,"完全性半肢畸形"],[498494,"镜像多指"],[498497,"短肋-多指综合征5型"],[498602,"糖人多指畸形",["Sugarman-Hager-Kulik综合征"]],[498693,"MYBPC1相关的常染色体隐性非致死性多发性先天性关节病综合征",["MYBPC1-related autosomal recessive non-lethal AMC syndrome"]],[498700,"边缘叶脑炎合并神经毒素3抗体"],[499004,"结核性脑膜炎",["TBM","Tubercular meningitis"]],[499009,"先天性梅毒",["母婴传播性梅毒"]],[499047,"自身免疫/炎症性视神经病变"],[499085,"慢性复发性炎症性视神经病变",["慢性复发性孤立性视神经炎"]],[499096,"单发视神经炎",["ION"]],[499103,"反复发作的特发性视神经视网膜炎",["RINR"]],[499107,"特发性视神经周围炎",["Idiopathic OPN"]],[499182,"阴唇癌",["Malherbe钙化上皮癌"]],[500055,"16p13.2微缺失综合征",["16p13.缺失"]],[500062,"婴儿期发作的周期性发热-脂膜炎-皮病综合征",["OTULIN相关自身免疫综合征"]],[500095,"身材高大-智力障碍-肾发育不良综合征",["Thauvin-Robinet-Faivre syndrome"]],[500135,"多核神经元-羊水过少-肾发育不良-小脑发育不全-积水性无脑畸形综合征",["MARCH syndrome"]],[500144,"早发性进行性脑病-听力减退-桥脑发育不全-脑萎缩综合征"],[500150,"脑畸形-肌肉骨骼异常-面部畸形-智力障碍综合征",["Zhu-Tokita-Takenouchi-Kim综合征"]],[500159,"小头畸形-胼胝体和小脑发育不良-面部畸形-智力障碍"],[500163,"SIN3A相关智力障碍综合征",["SIN3A-related intellectual disability syndrome","WITKOS"]],[500166,"SIN3A点突变导致的智力障碍综合征"],[500180,"儿童期起病的认知倒退综合征合并锥体外束运动障碍"],[500188,"X连锁外耳道闭锁-扩张型内耳道-面部畸形综合征"],[500464,"鼻腔和鼻旁窦鳞状细胞癌",["Squamous cell carcinoma of the nasal cavity and sinuses"]],[500478,"口咽鳞状细胞癌"],[500481,"涎腺鳞状细胞癌"],[500533,"羊水过多-巨颅畸形-症状性癫痫综合征",["PMSE syndrome"]],[500545,"严重的神经发育障碍伴有喂养困难-手部刻板运动-双侧白内障"],[500548,"骨硬化性骨骺端发育不良"],[502305,"耳蜗前庭发育不良"],[502318,"耳蜗神经缺损"],[502363,"口腔鳞状细胞癌"],[502366,"唇部鳞状细胞癌"],[502369,"口腔及唇部鳞状细胞癌"],[502423,"线粒体肌病-小脑共济失调-色素性视网膜病变综合征",["线粒体肌病-小脑萎缩-色素性视网膜病变综合征"]],[502430,"额部隆起-上睑下垂-面部畸形综合征"],[502434,"STAG1基因相关智力障碍-面部畸形-胃食管反流综合征"],[502437,"染色体4q25近端缺失综合征",["染色体4q2近端缺失"]],[502444,"碱性神经酰胺酶3缺陷",["ACER3相关的儿童早期发病的进行性脑白质营养不良症"]],[502499,"多发性红斑",["渗出性多发性大面积红斑"]],[504476,"小脑共济失调伴神经病变和双侧前庭反射综合征",["小脑共济失调和双侧前庭病综合征"]],[504523,"LAT缺失导致严重联合免疫缺陷症",["SCID due to LAT deficiency"]],[504530,"缺乏膜突蛋白联合免疫缺陷",["X染色体连锁的膜突蛋白相关免疫缺陷"]],[505208,"3-甲基戊二酸尿症8型",["MGA8"]],[505216,"3-甲基戊二酸尿症9型",["3-甲基戊二酸尿症-癫痫-痉挛-严重智力障碍综合症"]],[505227,"GINS1缺乏导致联合免疫缺陷症",["宫内生长迟缓合并免疫缺陷-NK细胞缺乏-中性粒细胞减少症"]],[505237,"早期癫痫发作-远端肢体异常-面部畸形-全身性发育迟缓综合症"],[505242,"精神运动性退行-眼球运动失用-运动障碍-肾病综合征",["Perez型脑肾综合征"]],[505248,"粘多糖病样综合征伴有先天性心脏缺陷和造血功能障碍",["粘多糖病样附加性病变"]],[505395,"呼吸机诱发的膈肌功能障碍",["VIDD"]],[505652,"CDKL5基因相关的癫痫脑病",["CDKL5基因缺陷性疾病"]],[506052,"胰腺神经内分泌肿瘤",["PNEN","Pancreatic NEN","Pancreatic neuroendocrine neoplasm"]],[506060,"功能性胰腺神经内分泌肿瘤",["功能性高分化胰腺神经内分泌肿瘤"]],[506075,"非功能性胰腺神经内分泌肿瘤",["非功能性高分化胰腺神经内分泌肿瘤"]],[506090,"5-羟色胺分泌型胰腺神经内分泌肿瘤",["Serotonin-producing PNET","Serotonin-producing pancreatic NET","Serotonin-producing pancreatic neuroendocrine tumor"]],[506098,"胰腺神经内分泌癌",["低分化胰腺神经内分泌肿瘤"]],[506112,"胰腺混合性神经内分泌-非神经内分泌肿瘤",["MiNEN of pancreas","Pancreatic MiNEN","Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm"]],[506124,"弃用：小肠神经内分泌肿瘤",["小肠神经内分泌肿瘤"]],[506136,"食管神经内分泌肿瘤",["小肠神经内分泌肿瘤"]],[506207,"可能需要移植的罕见疾病"],[506210,"可能适用于肝脏移植的罕见疾病"],[506213,"可能适用于肾脏移植的罕见疾病"],[506216,"可能适用于肠道移植的罕见疾病"],[506219,"可能适用于造血干细胞移植的罕见疾病"],[506222,"可能适用于肺移植的罕见疾病"],[506225,"可能适用于心脏移植的罕见疾病"],[506307,"Stromme综合征",["苹果皮样肠闭锁-眼球异常-小头畸形综合征"]],[506334,"家族性激素抵抗性肾病综合征伴肾上腺功能不全",["SGPL1缺乏引起的原发性肾上腺功能不全-激素抵抗性肾病综合征"]],[506353,"Kennedy通路功能障碍所致常染色体隐性复合型痉挛性偏瘫",["Autosomal recessive complex SPG due to Kennedy pathway dysfunction"]],[506358,"Gabriele-de Vries综合征",["YY1单倍不足综合症"]],[506784,"Stevens-Johnson综合征/毒性表皮坏死松解综合征",["Stevens-Johnson/毒性表皮坏死松解综合征"]],[508093,"MEPAN综合症",["线粒体烯酰CoA还原酶蛋白相关神经退行性变性综合征"]],[508410,"家族性肠道旋转不良"],[508476,"唇腭裂-颅面畸形-先天性心脏病-听力丧失综合症",["透明质酸酶2缺乏症"]],[508488,"染色体8q24.3微缺失综合征",["Verheij综合征"]],[508498,"智力障碍-心脏畸形-身材矮小-关节松弛综合症"],[508501,"口-面-指综合征伴有身材矮小和趾畸形",["口-面-指综合征18型"]],[508512,"先天性多发性咖啡斑-姐妹染色体交换增多综合征"],[508523,"DNAJC12基因缺陷导致高苯丙氨酸血症",["非苯丙酮尿症性非BH4缺乏性高苯丙氨酸血症"]],[508529,"单纯大疱性表皮松解，广泛性，伴瘢痕和脱发",["Intermediate EBS with cardiomyopathy"]],[508533,"骨骼发育不良-T细胞免疫缺陷-发育迟缓综合症",["EXTL3相关的神经-免疫-骨骼发育不良综合征"]],[508542,"先天性进行性骨髓衰竭-B细胞免疫缺陷-骨骼发育不良综合征",["MYSM1缺乏"]],[512017,"慢性自然杀伤细胞性淋巴增殖障碍",["自然杀伤细胞谱系性颗粒淋巴增殖障碍"]],[512034,"大颗粒淋巴细胞白血病"],[512103,"常染色体隐性表皮松解性鱼鳞病",["AREI"]],[512260,"RNU12基因突变所致先天性小脑共济失调"],[513436,"78型常染色体隐性痉挛性截瘫",["78型痉挛性截瘫"]],[513456,"智力障碍-癫痫-步态异常-面容畸形综合症",["Skraban-Deardorff综合征"]],[514352,"先天性食管短缩-胸腔胃-椎体畸形综合征",["索样综合征"]],[514980,"ATP13A2基因相关帕金森病"],[519264,"累及泪道系统的炎症/自身免疫紊乱"],[519266,"罕见的眼球附属器疾病"],[519268,"罕见的眼睑外翻障碍"],[519270,"罕见的眼睑内翻障碍"],[519272,"结构性发育性眼球缺陷"],[519274,"综合性泪腺系统紊乱"],[519276,"眼前节发育异常伴眼外症状"],[519278,"感染性角膜炎"],[519280,"罕见结膜炎"],[519282,"罕见角膜病变"],[519284,"罕见的眼前节病变"],[519286,"罕见的瞳孔病变"],[519288,"以角膜受累为主要特征的罕见疾病"],[519290,"罕见的炎症/自身免疫性角膜疾病"],[519292,"综合征性晶体异位"],[519294,"综合征性小球形晶状体"],[519296,"罕见巩膜色素沉着症"],[519298,"罕见的巩膜病变"],[519300,"孤立性脉络膜视网膜营养不良"],[519302,"孤立性黄斑营养不良"],[519304,"孤立性玻璃体视网膜病变"],[519306,"孤立性进行性遗传性视网膜病变"],[519309,"罕见脉络膜病变"],[519311,"罕见的眼后节病变"],[519313,"罕见黄斑病变"],[519315,"罕见视网膜病变"],[519317,"罕见视网膜血管病变"],[519319,"孤立静止性遗传性视网膜病变"],[519321,"综合征性脉络膜视网膜营养不良"],[519323,"综合征性黄斑营养不良"],[519325,"综合征性遗传性视网膜病变",["综合性视网膜营养不良"]],[519327,"综合征性玻璃体视网膜病变"],[519329,"罕见累及眼部多个结构的病变"],[519331,"继发性早发型青光眼"],[519333,"先天性视神经盘陷凹"],[519335,"弃用：炎症性/自身免疫性视神经病变"],[519337,"视神经压迫症"],[519339,"假视神经乳头水肿"],[519341,"以眼球受累为主要特征的罕见脑干或小脑病变"],[519343,"伴有皮质受累的罕见的眼科疾病"],[519345,"伴有视神经盘畸形的罕见眼科疾病"],[519347,"罕见神经肌肉疾病伴眼球运动/对齐异常"],[519349,"伴有颅神经受累的罕见眼部疾病"],[519351,"罕见的视神经病变"],[519353,"罕见滑车神经病变"],[519355,"罕见的眼球运动/对齐障碍"],[519357,"弃用：综合征性视神经盘畸形"],[519384,"先天性囊性眼",["先天性囊性无眼畸形"]],[519386,"孤立性先天性睑内翻"],[519388,"常染色体隐性前节发育不良"],[519390,"孤立性眼睑皮肤松弛症"],[519392,"孤立性虹膜劈裂"],[519394,"孤立性小晶状体"],[519396,"孤立性小球形晶状体"],[519398,"孤立性中央凹发育不良"],[519400,"视乳头周围的葡萄肿"],[519402,"孤立性大视乳头"],[519404,"视神经盘凹陷"],[519406,"蒂格森浅表性点状角膜炎",["蒂格森浅表性点状角膜病变"]],[519408,"蚕食性角膜溃疡"],[519410,"特里昂边缘变性"],[519930,"真菌性角膜炎",["Keratomycosis","Mycotic keratitis"]],[520814,"罕见的视觉器官病变"],[520817,"孤立性遗传性视网膜疾病"],[520820,"进行性眼外肌麻痹"],[521123,"辐射诱导的神经丛病"],[521127,"下颌骨放射性骨坏死"],[521132,"辐射诱导的病变"],[521219,"米里齐综合征",["胆道外压迫综合症"]],[521232,"遗传性原发性直立性失调"],[521236,"原发性直立性失调"],[521258,"染色体Xq25 微重复综合征",["X染色体q25微三倍体重复"]],[521268,"弃用：SLC5A6基因-常染色体阴性遗传细胞色素阳性慢性肉芽肿症I型",["SLC5A6基因-常染色体阴性遗传细胞色素阳性慢性肉芽肿症I型"]],[521305,"线粒体局灶性耗竭的近端肌病"],[521308,"额鼻发育不良-鼻裂-上肢异常综合征"],[521390,"痉挛性截瘫-智力障碍-眼球震颤-肥胖综合症",["SINO syndrome"]],[521399,"除外欧洲：非罕见肥胖症"],[521406,"肌张力障碍-帕金森症-高锰血症综合征"],[521411,"铜代谢缺陷所致常染色体隐性遗传轴索夏科-马里-图斯病",["Autosomal recessive axonal CMT due to copper metabolism defect"]],[521414,"常染色体显性遗传性夏科-马里-图斯病2DD型",["ATP1A1相关常染色体显性夏科-马里-图斯病2型"]],[521426,"PLAA基因相关的神经发育障碍",["PLAAND"]],[521432,"先天性白内障-严重新生儿肝病-全身发育迟缓综合征"],[521438,"先天性脊椎-心脏-肾脏异常综合症",["先天性NAD缺乏症"]],[521445,"小头畸形-面部畸形-眼球异常-多发性先天畸形综合征"],[521450,"LAMA5基因相关的多系统综合征"],[522037,"原发性自身免疫性肠病"],[522043,"综合征性自身免疫性肠病"],[522077,"婴儿肌张力过低症--动眼神经异常--运动过度--发育迟缓综合征",["SYT1相关神经发育症"]],[522504,"罕见的视觉器官遗传性疾病"],[522506,"以眼球受累为主要特征的罕见遗传性脑干或小脑疾病"],[522508,"罕见遗传性眼病伴皮质受累"],[522510,"罕见遗传性眼病伴颅神经受累"],[522512,"罕见遗传性视神经疾病"],[522514,"遗传性先天性视盘凹陷"],[522516,"罕见的遗传性眼球运动/对齐障碍"],[522518,"罕见遗传性斜视"],[522520,"综合征性遗传性疾病伴斜视"],[522522,"罕见遗传性神经肌肉疾病伴眼球运动/对准异常"],[522524,"罕见眼附属器遗传性疾病"],[522526,"罕见遗传性眼睑疾病"],[522528,"罕见遗传性眼睑错位症"],[522530,"罕见遗传性疾病伴眼睑内翻"],[522532,"罕见泪腺器官的遗传性疾病"],[522534,"遗传性排泪系统异常"],[522536,"遗传性结构性眼球发育缺陷"],[522538,"罕见眼睛前节遗传性疾病"],[522540,"遗传性前节发育异常"],[522542,"以结膜受累为主要特征的罕见遗传性疾病"],[522544,"罕见遗传性结膜炎"],[522546,"罕见遗传性疾病伴有晶状体混浊"],[522548,"综合征性遗传性白内障"],[522550,"遗传性晶状体大小异常"],[522552,"遗传性晶状体位置异常"],[522554,"综合征性遗传性晶状体异位"],[522556,"罕见遗传性角膜病"],[522558,"以角膜受累为主要特征的罕见遗传性疾病"],[522560,"遗传性角膜营养不良"],[522562,"遗传性表层性角膜营养不良"],[522564,"综合征性遗传性圆锥角膜"],[522566,"罕见遗传性炎症/自身免疫性角膜疾病"],[522568,"罕见瞳孔遗传性疾病"],[522570,"罕见眼后节遗传性疾病"],[522572,"罕见遗传性视网膜疾病"],[522574,"罕见遗传性黄斑疾病"],[522576,"罕见遗传性视网膜血管疾病"],[522578,"罕见涉及眼睛多个结构的遗传性疾病"],[522580,"遗传继发性早发型青光眼"],[522584,"罕见遗传性脉络膜疾病"],[523000,"小儿先天性青光眼"],[525677,"以青光眼为主要特征的遗传性先天性眼畸形"],[525731,"小儿格雷夫斯病",["小儿Basedow病"]],[525738,"青春期前神经性厌食"],[527276,"线粒体和过氧化物酶体裂变缺陷性脑病"],[527450,"重度近视-全身关节松弛-身材矮小综合征"],[527468,"横膈疝-短肠-无脾症候群"],[527497,"NKX6-2基因相关的常染色体隐性低髓鞘化脑白质营养不良症",["Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia","SPAX8"]],[528084,"非特异性综合征性智力障碍",["复杂性神经发育障碍"]],[528091,"水肿-乳酸酸中毒-铁粒幼细胞性贫血-多系统衰竭综合征"],[528105,"少汗症-电解质失衡-泪腺功能障碍-鱼鳞癣-口腔干燥综合症",["HELIX syndrome"]],[528623,"遗传性血管性水肿伴C1Inh缺乏",["遗传性血管神经性水肿伴C1抑制剂缺乏"]],[528647,"C1Inh正常的遗传性血管性水肿",["C1抑制剂正常的遗传性血管性水肿"]],[528663,"获得性血管水肿伴C1Inh缺乏",["获得性血管神经性水肿伴C1抑制剂缺乏"]],[529468,"单克隆肥大细胞激活综合征",["单克隆肥大细胞激活障碍"]],[529574,"Duane眼球后退综合征伴先天性耳聋",["Duane眼球后退综合征伴先天性听力损失"]],[529665,"神经发育迟缓-癫痫-眼球异常-骨质疏松-小脑萎缩综合征",["GPAA1相关生物合成缺陷"]],[529799,"急性胆红素脑病",["急性核黄疽"]],[529808,"慢性胆红素脑病",["胆红素诱导的神经功能障碍"]],[529819,"虹膜色素剥脱综合征",["假性虹膜色素剥脱综合征"]],[529831,"来曲唑毒性"],[529852,"肝细胞癌合并胆管上皮癌",["Combined hepatocellular-cholangiocarcinoma"]],[529864,"继发性红斑性肢痛病",["Secondary erythermalgia"]],[529962,"染色体17q24.2 微缺失综合征",["染色体17q24.2缺失综合征"]],[529965,"智力障碍-自闭症-言语失用症-颅面畸形综合征",["Pilarowski-Bjornsson综合征"]],[529970,"无精导致的男性不育症",["无头精子综合征"]],[529974,"免疫失调伴炎症性肠病"],[529977,"免疫失调-炎症性肠病-关节炎-复发性感染-淋巴细胞减少综合征"],[529980,"炎症性肠病-复发性窦肺感染综合征",["NFAT5单倍剂量不足"]],[530033,"中枢神经系统的皮样或表皮样囊肿",["Dermoid or epidermoid cyst of the CNS"]],[530298,"进行性肌阵挛性癫痫伴神经源性丝氨酸蛋白酶抑制剂包涵体",["早发性家族性脑病伴有神经源性丝氨酸蛋白酶抑制剂包涵体"]],[530303,"进行性痴呆伴神经源性丝氨酸蛋白酶抑制剂包涵体",["晚发性家族性脑病伴有神经源性丝氨酸蛋白酶抑制剂包涵体"]],[530313,"PIK3CA基因相关生长过度综合征",["PROS"]],[530792,"RELA基因融合阳性室管膜瘤",["幕上C11ORF95-RELA基因融合性室管膜瘤"]],[530838,"KRT1基因相关弥漫性非表皮松解性皮肤角化病",["KRT1-related diffuse NEPPK"]],[530849,"家族性载脂蛋白A5缺乏症",["Familial apolipoprotein A-V deficiency"]],[530983,"Lamb - Shaffer综合征",["SOX5单倍剂量不足"]],[530995,"混合表型急性白血病",["MPAL"]],[531151,"9q21.13微缺失综合症"],[535453,"家族性脂肪酶成熟因子1缺乏症",["家族性LMF1缺乏症"]],[535458,"家族性GPIHBP1基因缺乏症",["家族性糖基磷脂酰肌醇固着性高密度脂蛋白结合蛋白1缺乏症"]],[536391,"RASopathy"],[536467,"B3GALT6基因相关的脊柱发育不良性埃勒斯-当洛斯综合征",["Ehlers-Danlos综合征早老症2型"]],[536471,"脊柱发育不良性埃勒斯-当洛斯综合征",["Spondylodysplastic EDS","spEDS"]],[536516,"肌病性埃勒斯-当洛斯综合征",["埃勒斯-当洛斯/肌病重叠综合征"]],[536532,"经典肌病性埃勒斯-当洛斯综合征2型",["Classical-like EDS type 2"]],[536545,"脊柱后凸畸形埃勒斯-当洛斯综合征",["Kyphoscoliotic EDS"]],[537072,"PLG基因相关的遗传性血管性水肿伴C1Inh正常",["PLG基因相关的遗传性血管性水肿伴C1抑制剂正常"]],[537891,"ANGPT1基因相关的遗传性血管性水肿伴C1Inh正常",["ANGPT1基因相关的遗传性血管性水肿伴C1抑制剂正常"]],[538096,"常染色体隐性致死性新生儿感觉运动性轴索多发性神经病"],[538101,"先天性轴索神经病伴脑病"],[538238,"遗传性氯化物通道缺陷诱导的中枢神经系统离子通道疾病"],[538574,"掌跖皮肤角皮病-遗传性运动和感觉性神经病综合征",["掌跖皮肤角皮病-夏科-马里-图斯病综合征"]],[538756,"家族性多发性盘状纤维瘤",["家族性多发性毛盘状瘤"]],[538863,"经典坏疽性脓皮病",["溃疡性坏疽性脓皮病"]],[538866,"脓疱性坏疽性脓皮病"],[538869,"大疱性坏疽性脓皮病",["Phemphigoid pyoderma gangrenosum"]],[538872,"植物性坏疽性脓皮病",["肉芽肿性坏疽性脓皮病"]],[538931,"SH2D1A基因缺陷诱导的X连锁淋巴组织增生性疾病",["X连锁淋巴组织增生综合征1型"]],[538934,"XIAP基因缺陷诱导的X连锁淋巴组织增生性疾病",["X连锁淋巴组织增生综合征2型"]],[538958,"CD70基因缺陷诱导的联合免疫缺陷",["CID due to CD70 deficiency"]],[538963,"ITK基因缺陷诱导的联合免疫缺陷",["ITK基因缺陷导致的常染色体隐性淋巴细胞增殖症"]],[541423,"生长延迟-智力障碍-肝病综合征"],[541443,"主动脉起源性左冠状动脉起源异常",["左冠状动脉起源于右主动脉窦"]],[541454,"主动脉起源性右冠状动脉起源异常",["右冠状动脉起源于左主动脉窦"]],[541478,"主动脉起源性冠状动脉起源异常",["AAOCA"]],[541507,"肺动脉起源性冠状动脉起源异常",["ACAPA"]],[542301,"CARMIL2基因缺陷诱导的重症联合型免疫缺陷病",["RLTPR基因缺陷诱导的重症联合型免疫缺陷病"]],[542306,"GNB5基因相关的智力障碍-心律失常综合征"],[542310,"脑白质病伴钙化和囊肿",["Labrune综合征"]],[542323,"CAR T细胞治疗相关的细胞因子释放综合征",["嵌合抗原受体-T细胞治疗相关的细胞因子释放综合征"]],[542568,"四叶主动脉瓣"],[542585,"听觉神经病变-视神经萎缩综合征"],[542592,"类脂性渐进性坏死",["Oppenheim-Urbach疾病"]],[542643,"青斑样血管病变",["网状青斑伴夏季溃疡"]],[542657,"孤立性高氯性多汗症",["碳酸酐酶XII缺乏症"]],[542822,"冠状动脉口异常"],[543470,"视神经萎缩-共济失调-周围神经病变-全身发育迟缓综合征"],[544254,"SYNGAP1基因相关的发育和癫痫性脑病",["SYNGAP1-related DEE"]],[544458,"溶血性尿毒症综合征",["HUS"]],[544469,"PRUNE1基因相关神经综合征"],[544472,"补体基因异常的非典型溶血性尿毒症综合征",["Atypical HUS with complement gene abnormality","aHUS with complement gene abnormality"]],[544482,"感染性溶血性尿毒症综合征",["Infection-related HUS"]],[544488,"全身发育迟缓-脱发-大头畸形-面部畸形-结构性脑异常综合症",["鸟氨酸脱羧酶缺乏症"]],[544493,"肺炎链球菌相关的溶血性尿毒症综合征",["S. pneumoniae-associated HUS","SP-HUS"]],[544503,"RNF13基因相关严重早发型癫痫性脑病",["RNF13-related severe EOEE"]],[544578,"回流梗阻型先天性原发型巨输尿管"],[544590,"胶原相关肾小球基底膜疾病"],[544602,"先天性肌病伴2型肌纤维减少",["Congenital myopathy with reduced type II muscle fibers"]],[544628,"非典型范可尼综合征-新生儿高胰岛素血症综合征"],[555402,"NAD(P)HX脱水酶缺乏",["CARKD基因缺陷"]],[555407,"NAD(P)HX表表异构酶缺乏",["载脂蛋白A-I结合蛋白缺乏"]],[555434,"肝纤维组织细胞炎性假瘤"],[555437,"肝淋巴浆细胞性炎性假肿瘤",["IgG4相关肝脏炎症性假瘤"]],[555874,"先天性三尖瓣发育不良"],[555877,"FLNA基因相关的X连锁粘液瘤性瓣膜发育不良",["细丝蛋白A相关X连锁粘液瘤性瓣膜发育不良"]],[555905,"IgA天疱疮"],[556030,"早发性家族性醛固酮减少症",["早发性家族性高肾素低醛固酮症"]],[556037,"晚发性家族性醛固酮减少症",["晚发性家族性高肾素低醛固酮症"]],[556508,"罕见中毒性疾病"],[556955,"胰腺发育不全-全前脑无裂综合征"],[556985,"早发性钙化脑白质病-骨骼发育不良"],[557003,"眼-脑-肾综合征",["Oculo-cerebro-dental syndrome"]],[557056,"谷氨酰胺酶缺乏诱导的痉挛性共济失调-构音障碍"],[557064,"谷氨酰胺酶缺乏诱导的新生儿癫痫性脑病"],[557866,"以希尔施普龙病为主要特征的罕见病"],[558411,"特发性胃肌轻瘫"],[561854,"FOXG1基因综合征",["FOXG1基因相关癫痫性脑病"]],[562509,"血红素加氧酶-1缺乏症",["HO-1 deficiency"]],[562528,"先天性四肢-面部挛缩-肌张力低下-发育迟缓综合征",["CLIFAHDD syndrome"]],[562538,"常染色体隐性遗传性口外源性口臭",["甲硫醇氧化酶缺乏症"]],[562559,"上颌前突-斜视-智力障碍综合征",["MRAMS综合征"]],[562569,"TMEM94基因相关的先天性心脏缺陷-面部畸形-发育迟缓综合征"],[562639,"原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎综合征",["原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎重叠综合征"]],[563576,"自身免疫性肝炎1型",["AIH type 1"]],[563581,"自身免疫性肝炎2型",["AIH type 2"]],[563589,"血清反应阴性自身免疫性肝炎",["自身抗体阴性自身免疫性肝炎"]],[563609,"孤立性无脑畸形"],[563612,"孤立性露脑畸形"],[563666,"儿童浆液性囊腺瘤",["儿童卵巢浆液性囊腺瘤"]],[563671,"儿童粘液囊腺瘤",["儿童卵巢粘液囊腺瘤"]],[563676,"儿童浆-黏液性囊腺瘤",["儿童卵巢浆-黏液性囊腺瘤"]],[563684,"人皮蝇所致疖性蝇蛆病",["Furunculous myiasis due to Dermatobia hominis"]],[563687,"噬人瘤蝇所致疖性蝇蛆病",["Furunculous myiasis due to Cordylobia anthropophaga"]],[563690,"隆德蝇所致疖性蝇蛆病",["Furunculous myiasis due to Cordylobia rodhaini"]],[563708,"综合征性先天性钠盐腹泻",["综合征性先天性簇绒肠病"]],[563951,"孤立性先天性无舌"],[563954,"孤立性先天性 缺舌"],[563991,"跗骨软骨病",["跗骨无菌性坏死"]],[564003,"跖骨软骨病",["跖骨无菌性坏死"]],[564127,"遗传性肾病综合症",["Hereditary nephrotic syndrome"]],[564178,"原发性低镁血症伴难治性癫痫发作和智力障碍"],[565612,"甘油三酯沉积型心肌病",["中性脂质贮积病伴重度心血管受累"]],[565624,"复合氧化磷酸化缺陷39型",["GFM2基因相关复合氧化磷酸化缺陷"]],[565641,"原发性结肠结缔组织病",["结肠结缔组织发育不全"]],[565779,"移植后可能出现的罕见疾病或并发症"],[565782,"甲氨蝶呤毒性"],[565788,"神经系统受累的婴儿炎症性肠病"],[565837,"层粘连蛋白亚基α2相关的肢肌营养不良 R23型",["肢肌营养不良R23型"]],[565858,"颅缝早闭-下颌微缩-严重智力障碍综合征"],[565899,"POMGNT2基因相关的肢肌营养不良症 R24型",["肢肌营养不良症 R24型"]],[565909,"Calpain-3相关的肢肌营养不良 D4型",["肢肌营养不良 D4型"]],[566067,"CEBPE基因相关的自身炎症-免疫缺陷-中性粒细胞功能障碍综合征",["CAIN"]],[566175,"补体过度激活-血管病性血栓形成-蛋白丢失性肠病综合征",["CHAPLE syndrome"]],[566192,"先天性常染色体隐性遗传小血小板减少症",["CARST"]],[566231,"甲状腺激素受体α突变所致甲状腺激素的抵抗",["甲状腺激素α抵抗"]],[566243,"甲状腺激素受体β突变所致甲状腺激素的抵抗",["甲状腺激素β抵抗"]],[566393,"急性肥大细胞白血病",["Acute MCL"]],[566396,"慢性肥大细胞白血病",["Chronic MCL"]],[566841,"肝腺瘤病",["Hepatic adenomatosis"]],[566847,"脑前部缺无/脑发育不全谱系",["AP/AT spectum"]],[566852,"脑发育不全",["脑发育不全性小头畸形"]],[566857,"脑前部缺无"],[566862,"左房异构",["左心耳异构"]],[566943,"Muller-Weiss病（足舟骨坏死）",["足舟骨Muller-Weiss坏死"]],[567502,"B细胞免疫缺陷-肢体异常-泌尿生殖器畸形综合征",["霍夫曼综合征（甲状腺功能减退性肌病）"]],[567544,"特发性非狼疮性满堂亮肾病",["Idiopathic non-lupus FHN"]],[567546,"特发性类固醇敏感肾病综合征伴继发性类固醇抵抗",["Idiopathic SSNS with secondary steroid resistance"]],[567548,"特发性类固醇抵抗肾病综合征",["Idiopathic SRNS"]],[567550,"特发性耐多药肾病综合征"],[567552,"对二线免疫抑制治疗敏感的特发性类固醇抵抗肾病综合征",["对强化免疫抑制治疗敏感的特发性类固醇抵抗肾病综合征"]],[567554,"以肾小球病变为主要特征的全身性疾病"],[567556,"以肾小球病变为主要特征的遗传性系统性疾病"],[567558,"以肾小球病变为主要特征的非遗传性系统性疾病"],[567560,"与肾小球病变相关的系统性血管炎"],[567562,"多系统受累伴肾小球病变"],[567564,"无肾外表现的肾病综合征"],[567983,"肠外营养相关的胆汁淤积症",["PNAC"]],[568041,"无全身或内脏受累型原发性淋巴水肿"],[568044,"全身或内脏受累型原发性淋巴水肿"],[568047,"原发性淋巴水肿伴多系统受累"],[568051,"GJC2基因相关的晚发型原发性淋巴水肿"],[568056,"疣-免疫缺陷-淋巴水肿-肛门生殖器发育不良综合征",["Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome","WILD syndrome"]],[568062,"PIEZO1基因相关的全身淋巴发育不良伴非免疫性胎儿水肿",["PIEZO1基因相关全身性淋巴发育不良伴全身受累"]],[568065,"EPHB4基因相关的淋巴性胎儿水肿",["EPHB4基因相关全身性淋巴发育不良伴非免疫性胎儿水肿"]],[569164,"血管瘤样纤维组织细胞瘤",["AFH"]],[569248,"微囊性子宫内膜间质细胞瘤",["MCST"]],[569274,"多线粒体功能障碍综合征5型",["ISCA1基因缺陷"]],[569290,"多线粒体功能障碍综合征6型",["PMPCB基因缺陷"]],[569816,"CELSR1基因相关的晚发型原发性淋巴水肿"],[569821,"戈登型先天性原发性淋巴水肿",["VEGFC基因相关先天性原发性淋巴水肿"]],[570371,"短暂性产前巴特综合征",["巴特综合征5型"]],[570422,"半乳糖变旋酶缺乏症",["半乳糖血症4型"]],[570431,"特发性多中心卡斯特莱曼病",["人类疱疹病毒-8阴性多中心卡斯特莱曼病"]],[570438,"HHV-8相关的多中心卡斯特莱曼病",["人类疱疹病毒-8相关的多中心卡斯特莱曼病"]],[570470,"萞麻毒素中毒"],[570491,"QRSL1基因相关复合氧化磷酸化缺陷",["QRSL1-related COXPD"]],[570762,"感染性心内膜炎",["Infectious endocarditis"]],[572013,"后部-明显无脑回畸形-宽平脑桥延髓-中线交叉缺损综合征"],[572333,"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征",["染色体3q23微缺失综合征"]],[572354,"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征1型",["BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"]],[572361,"睑裂狭小-上睑下垂-倒转型内眦赘皮综合征2型",["BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"]],[572385,"B1型短指/趾"],[572428,"婴儿肺泡蛋白沉积-低丙球蛋白血症",["OAS1基因缺陷"]],[572543,"RFVT2基因相关核黄素转运蛋白缺乏症",["核黄素转运蛋白缺乏症2型"]],[572550,"RFVT3基因相关核黄素转运蛋白缺乏症",["核黄素转运蛋白缺乏症3型"]],[572761,"DONSON相关的小头畸形-身材矮小-四肢异常谱系"],[572768,"小头畸形-四肢短小综合征",["MIMIS"]],[572773,"小头畸形-身材矮小-四肢异常综合征",["MISSLA"]],[572798,"WARS2相关复合氧化磷酸化缺陷",["线粒体色氨酰-tRNA合成酶缺乏症"]],[573163,"嗜铬细胞瘤-副神经节瘤"],[573253,"脊髓分裂畸形II型",["SCM type 2","SCM type II","Split cord malformation type 2"]],[573278,"脊髓分裂畸形",["SCM"]],[574918,"IRF7基因缺陷诱发的严重病毒感染"],[574957,"由JAK1基因部分缺陷所致常染色体隐性孟德尔遗传易感性分支杆菌病",["Autosomal recessive MSMD due to partial JAK1 deficiency"]],[575553,"组织蛋白酶A相关动脉病-脑卒中-脑白质病",["CARASAL"]],[576074,"中东呼吸综合征",["MERS"]],[576227,"完全性房室间隔缺损伴无心室发育不良",["Complete AVSD without ventricular hypoplasia"]],[576232,"部分房室间隔缺损伴有心室发育不良",["不平衡型部分型房室管"]],[576235,"部分房室间隔缺损伴无心室发育不良",["部分房型室间隔缺损伴无心室发育不良"]],[576242,"房室间隔缺损",["过渡型房室管缺损"]],[576278,"SATB2基因相关综合征",["SAS"]],[576283,"致病变异所致SATB2基因相关综合征",["点突变所致SATB2基因相关综合征"]],[576349,"NLRC4基因相关家族性感冒自身炎性综合征",["家族性寒冷性自身炎性综合征"]],[576356,"散发性人朊病毒病",["特发性人朊病毒病"]],[576360,"获得性人朊病毒病",["感染性人朊病毒病"]],[576370,"变异型克罗伊茨费尔特-雅各布病",["新型MCJ"]],[576379,"医源性克罗伊茨费尔特-雅各布病",["医源性MCJ"]],[576742,"遗传性溶血性尿毒综合征",["Genetic HUS"]],[580572,"胰腺导管内管状乳头状肿瘤",["ITPN"]],[580933,"致命的脑和心脏发育缺陷"],[580940,"QRICH1基因相关智力障碍-软骨发育不良综合征"],[580951,"点状内脉络膜病变"],[581271,"肌痛性痉挛-肌束震颤综合征"],[583097,"先天性面部浸润性多发性脂肪瘤样病",["纤维脂肪性浸润性脂肪瘤病"]],[583595,"丝氨酸生物合成途径缺乏，婴儿/青少年型"],[583602,"磷酸丝氨酸氨基转移酶缺乏症所致Neu-laxova综合征",["产前型磷酸丝氨酸氨基转移酶缺乏症"]],[583607,"3-磷酸甘油酯脱氢酶缺乏所致Neu-laxova综合征",["产前型3-磷酸甘油酯脱氢酶缺乏症"]],[583612,"3-磷酸丝氨酸磷酸酶缺乏所致Neu-laxova综合征",["产前型3-磷酸丝氨酸磷酸酶缺乏症"]],[583856,"孤立性脾静脉血栓"],[583861,"孤立性肠系膜静脉血栓"],[585867,"Acute myeloid leukemia with t(9;22)(q34.1;q11.2)",["AML with BCR-ABL1","AML with t(9;22)(q34.1;q11.2)"]],[585877,"B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"],[585909,"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)",["B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"]],[585918,"B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)",["B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged","B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged"]],[585929,"B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)",["B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1","B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1"]],[585936,"B-lymphoblastic leukemia/lymphoma with hyperdiploidy"],[585942,"B-lymphoblastic leukemia/lymphoma with hypodiploidy",["Hypodiploid ALL"]],[585948,"B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)",["B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH"]],[585956,"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)",["B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1"]],[586130,"Sporadic fatal insomnia"],[589435,"Spondylometaphyseal dysplasia-corneal dystrophy syndrome",["SMD-corneal dystrophy syndrome"]],[589442,"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome",["Liberfarb syndrome"]],[589515,"PUM1-associated developmental disability-ataxia-seizure syndrome",["PADDAS syndrome","SCA47"]],[589522,"Spinocerebellar ataxia type 46",["SCA46"]],[589527,"Spinocerebellar ataxia type 45",["SCA45"]],[589534,"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)",["MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1"]],[589542,"Myeloid/lymphoid neoplasm associated with JAK2 rearrangement",["Myeloid/lymphoid neoplasms with PCM1-JAK2"]],[589547,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"],[589595,"Mixed phenotype acute leukemia with t(v;11q23.3)",["MPAL with t(v;11q23.3); KMT2A rearranged","MPAL with t(v;11q23.3); MLL rearranged"]],[589608,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies",["RHOA-related mosaic ectodermal dysplasia"]],[589618,"Dystonia 28",["DYT28","KMT2B-related dystonia"]],[589746,"Inherited gynecological cancer-predisposing syndrome"],[589821,"Congenital-onset Steinert myotonic dystrophy",["Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"]],[589824,"Childhood-onset Steinert myotonic dystrophy",["Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"]],[589827,"Juvenile-onset Steinert myotonic dystrophy",["Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"]],[589830,"Adult-onset Steinert myotonic dystrophy",["Adult-onset Steinert disease","Adult-onset myotonic dystrophy type 1"]],[589833,"Late-onset Steinert myotonic dystrophy",["Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"]],[589856,"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome",["KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"]],[589905,"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome",["Chung-Jansen syndrome"]],[590539,"Isolated melanotic schwannoma",["Isolated melanocytic schwannoma"]],[592564,"GNAO1-related developmental delay-seizures-movement disorder spectrum",["GNAO1-related spectrum"]],[592570,"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"],[592574,"Menke-Hennekam syndrome"],[592850,"Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies",["NMOSD with anti-AQP4 antibodies","Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies"]],[592856,"Neuromyelitis optica spectrum disorder with anti-MOG antibodies",["NMOSD with anti-MOG antibodies","Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592869,"Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies",["NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies","Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies"]],[592873,"Acute transverse myelitis with anti-MOG antibodies",["Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592885,"Isolated optic neuritis without anti-MOG antibodies",["Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies"]],[592888,"Isolated optic neuritis with anti-MOG antibodies",["Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592894,"Acute disseminated encephalomyelitis with anti-MOG antibodies",["ADEM with anti-MOG antibodies","Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies"]],[592900,"Acute disseminated encephalomyelitis without anti-MOG antibodies",["Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies"]],[595098,"Timothy syndrome type 1",["LQT8 type 1","TS1"]],[595105,"Timothy syndrome type 2",["LQT8 type 2","TS2"]],[595109,"Atypical Timothy syndrome",["ATS","Atypical LQT8"]],[595133,"Perivascular epithelioid cell neoplasm",["PEComa","Perivascular epithelioid tumour"]],[595216,"Fibrous dysplasia/McCune-Albright syndrome",["FD/MAS spectrum","FD/MAS syndrome","Fibrous dysplasia/McCune-Albright spectrum"]],[595337,"Adrenal hypoplasia congenita",["AHC","Congenital adrenal hypoplasia","Primary adrenal hypoplasia"]],[595346,"Epidermolysis bullosa simplex without extracutaneous involvement",["EBS without extracutaneous involvement"]],[595351,"Epidermolysis bullosa simplex with extracutaneous involvement",["EBS with extracutaneous involvement"]],[595356,"Localized dystrophic epidermolysis bullosa",["Localized DEB"]],[596008,"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"],[596426,"Syndrome of reduced sensitivity to thyroid hormone"],[596448,"IgG4-related systemic disease",["IgG4-RD","IgG4-related disease"]],[596753,"VEXAS syndrome"],[596759,"Combined immunodeficiency due to RELA haploinsufficiency",["CID due to RELA haploinsufficiency"]],[596937,"Portosinusoidal vascular disease",["PSVD"]],[596941,"Incomplete septal cirrhosis",["Incomplete septal fibrosis"]],[597201,"TRIM22-related inflammatory bowel disease",["TRIM22-related IBD"]],[597623,"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"],[597733,"Oculocutaneous albinism type 8",["OCA8"]],[597738,"Luscan-Lumish syndrome",["SETD2-related overgrowth syndrome"]],[597743,"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"],[597746,"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"],[597749,"KAT6B-related multiple congenital anomalies syndrome",["KAT6B-related disorder"]],[597874,"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"],[597887,"ALPI-related inflammatory bowel disease"],[597939,"Euthyroid dysprealbuminemic hyperthyroxinemia",["Euthyroid dystransthyretinemic hyperthyroxinemia"]],[598164,"FOXG1 syndrome due to intragenic alteration"],[598216,"Upper tract urothelial carcinoma",["Transitional cell carcinoma of the pelvis and ureter","Transitional cell carcinoma of the upper urinary tract","UTUC"]],[598363,"Multisystem inflammatory syndrome in children and adults",["MIS-C/A"]],[598603,"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome",["FHEIG syndrome"]],[599082,"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome",["Snijders Blok-Campeau syndrome"]],[599373,"STXBP1-related encephalopathy"],[599376,"Hypomyelination of early myelinating structures",["HEMS"]],[599418,"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"],[600663,"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"],[600731,"Clark-Baraitser syndrome"],[600832,"Legionellosis",["Legionella infection"]],[600952,"Non-syndromic anorectal malformation with perineal fistula",["Non-syndromic ARM with cutaneous fistula","Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with cutaneous fistula"]],[600961,"Non-syndromic anorectal malformation with rectourethral fistula",["Non-syndromic ARM with rectourethral fistula"]],[600966,"Non-syndromic anorectal malformation with rectourethral fistula, bulbar type",["Non-syndromic ARM with rectobulbar fistula","Non-syndromic ARM with rectourethral fistula, bulbar type","Non-syndromic anorectal malformation with rectobulbar fistula"]],[600975,"Non-syndromic anorectal malformation with rectourethral fistula, prostatic type",["Non-syndromic ARM with rectoprostatic fistula","Non-syndromic ARM with rectourethral fistula, prostatic type","Non-syndromic anorectal malformation with rectoprostatic fistula"]],[600984,"Non-syndromic anorectal malformation with rectovesical fistula",["Non-syndromic ARM with bladder neck fistula","Non-syndromic ARM with rectovesical fistula","Non-syndromic anorectal malformation with bladder neck fistula"]],[600993,"Non-syndromic anorectal malformation with vestibular fistula",["Non-syndromic ARM with vestibular fistula"]],[600998,"Non-syndromic cloacal malformation"],[601002,"Non-syndromic anorectal malformation without fistula",["Non-syndromic ARM without fistula","Non-syndromic anorectal malformation with no fistula"]],[601008,"Non-syndromic anorectal malformation with anal stenosis",["Non-syndromic ARM with anal stenosis"]],[601013,"Non-syndromic anorectal malformation with pouch colon",["Non-syndromic ARM with pouch colon"]],[601018,"Non-syndromic anorectal malformation with rectal atresia",["Non-syndromic ARM with rectal atresia"]],[601023,"Non-syndromic anorectal malformation with rectal stenosis",["Non-syndromic ARM with rectal stenosis"]],[601028,"Non-syndromic anorectal malformation with rectovaginal fistula",["Non-syndromic ARM with rectovaginal fistula"]],[601033,"Non-syndromic anorectal malformation with H-type fistula",["Non-syndromic ARM with H-type fistula"]]]}