GeneReviews, 是 一个国际性的资源平台，通过期刊文章的形式，为繁忙的临床医生提供遗传相关疾病的临床知识与操作指 导，其内容涉及疾病诊断、管理以及针对患者的 遗传咨询 等方面。 GeneReviews 的 每一章内容均由相关领域的专家撰写，并在出版前进行了细致的修订与 同行评议。

GeneReviews 的章节包括两种：针对单一 基因 和 表型 叙述的章节（约 95%）或是对常见疾病遗传学病因的概述章节（如耳聋及听力丧失、阿兹海默病等）（约 5%）。

为 了保证 GeneReviews 的时效性及可操作性，每个章节的内容会每2-4年（或根据实际需要）进 行 更 新，更新由相应章节的作者在GeneReviews 编辑 的协调 下进行。此外，当临床信息出现重大更新时，相应章节会进行不定期的 修 订。

GeneReviews 中与遗传咨询及检测相关的术语均链接至 GeneReviews 术语表。文中涉及 的重要遗传学概念在教育材料中 有额外叙述。

GeneReviews 已被PubMed收录。

GeneReviews 目前包括781个章节。

中文版Genereviews目录（按照首字母排序，目前共413个条目）

1 · 2 · 3 · 7 · 9 · 15 · 16 · 17 · 21 · 22 · A · B · C · D · E · F · G · H · I · J · K · L · M · N · O · P · R · S · T · U · V · W · X · Y · Z

• 1

• 【初稿】 1p36 缺失综合征
  1p36 Deletion Syndrome
  Agatino Battaglia.
  翻译者：文曙
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2022-11-03 10:57:58.
• 【初稿】 1q21.1复发性微缺失
  1q21.1 Recurrent Microdeletion
  Chad R Haldeman-Englert and Tamison Jewett.
  翻译者：张淑杰,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 07:59:09.

• 2

• 【初稿】 2q37微缺失综合征
  2q37 Microdeletion Syndrome
  Emily S Doherty and Felicitas L Lacbawan.
  翻译者：沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-14 02:42:16.

• 3

• 【初稿】 3-M综合征
  3-M Syndrome
  Muriel Holder-Espinasse.
  翻译者：胡旭昀,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 07:59:34.
• 【初稿】 3q29反复发生的缺失
  3q29 Recurrent Deletion
  Jennifer Gladys Mulle, Michael J Gambello, Edwin H Cook, Timothy P Rutkowski, and Megan Glassford.
  翻译者：龙盼盼
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-17 09:38:37.

• 7

• 【初稿】 7q11.23重复综合征
  7q11.23 Duplication Syndrome
  Carolyn B Mervis, Colleen A Morris, Bonita P Klein-Tasman, Shelley L Velleman, and Lucy R Osborne.
  翻译者：彭兴旺,李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-29 05:04:21.

• 9

• 【初稿】 9q22.3微缺失
  9q22.3 Microdeletion
  Eric Muller, II and Louanne Hudgins.
  翻译者：胡旭昀,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:00:04.

• 15

• 【初稿】 15q重复综合征及其相关疾病
  15q Duplication Syndrome and Related Disorders
  Brenda M Finucane, Laina Lusk, Dimitrios Arkilo, Stormy Chamberlain, Orrin Devinsky, Scott Dindot, Shafali Spurling Jeste, Janine M LaSalle, Lawrence T Reiter, N Carolyn Schanen, Sarah J Spence, Ronald L Thibert, Guy Calvert, Kadi Luchsinger, and Edwin H Cook.
  翻译者：郭莉,胡蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 08:47:24.
• 【初稿】 15q13.3微缺失
  15q13.3 Microdeletion
  Bregje WM van Bon, Heather C Mefford, and Bert BA de Vries.
  翻译者：谌飞,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:00:19.
• 【初稿】 15q24微缺失综合征
  15q24 Microdeletion Syndrome
  Heather Mefford, Natasha Shur, and Jill Rosenfeld.
  翻译者：谌飞,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:00:31.

• 16

• 【初稿】 16p11.2 Recurrent Microdeletion
  16p11.2 Recurrent Microdeletion
  David T Miller, Wendy Chung, Ramzi Nasir, Yiping Shen, Kyle J Steinman, Bai-Lin Wu, and Ellen Hanson.
  翻译者：王萍
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2022-10-18 05:31:38.
• 【初稿】 16p12.2 微缺失
  16p12.2 Microdeletion
  Santhosh Girirajan, John Moeschler, and Jill Rosenfeld.
  翻译者：苏家荪,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:01:10.

• 17

• 【初稿】 17q12 复发性重复
  17q12 Recurrent Duplication
  Heather Mefford, Elyse Mitchell, and Jennelle Hodge.
  翻译者：胡蓉,郭莉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 08:48:30.
• 【初稿】 17q12 Recurrent Deletion Syndrome
  17q12 Recurrent Deletion Syndrome
  Marissa W Mitchel, Daniel Moreno-De-Luca, Scott M Myers, Brenda Finucane, David H Ledbetter, and Christa L Martin.
  翻译者：郭田田
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-28 05:27:16.

• 21

• 【初稿】 21-羟化酶缺陷型先天性肾上腺增生症
  21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
  Saroj Nimkarn, Prasanna K Gangishetti, Mabel Yau, and Maria I New.
  翻译者：孔晓牧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:01:44.

• 22

• 【初稿】 22q11.2缺失综合征
  22q11.2 Deletion Syndrome
  Donna M McDonald-McGinn, Beverly S Emanuel, and Elaine H Zackai.
  翻译者：张月,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:01:57.
• 【初稿】 22q11.2重复
  22q11.2 Duplication
  Helen V Firth.
  翻译者：张月,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:02:10.

• A

• 【初稿】 阿尔兹海默病概述
  Alzheimer Disease Overview
  Thomas D Bird.
  翻译者：孔梓任,弓孟春
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2017-08-22 05:45:56.
• 【初稿】 Alström 综合征
  Alström Syndrome
  Jan D Marshall, Richard B Paisey, Catherine Carey, and Seamus Macdermott.
  翻译者：安冬艳,孙隽
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2017-08-22 05:45:56.
• 【初稿】 成人多聚糖体病
  Adult Polyglucosan Body Disease
  Christopher J Klein.
  翻译者：汪伟
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2017-08-22 05:45:56.
• 【初稿】 软骨发育不全
  Achondroplasia
  Richard M Pauli.
  翻译者：王剑
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2017-08-22 05:45:56.
• 【初稿】 ACTG2-Related Disorders
  ACTG2-Related Disorders
  Michael F Wangler and Arthur L Beaudet.
  翻译者：龙盼盼,江勤凤
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-03-06 03:37:16.
• 【初稿】 ADAMTSL4-Related Eye Disorders
  ADAMTSL4-Related Eye Disorders
  Eyvind Rødahl, Anne Elisabeth Christensen, Torunn Fiskerstrand, Per Morten Knappskog, and Helge Boman.
  翻译者：龙盼盼,江勤凤
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-01-14 08:15:48.
• 【初稿】 ADCY5相关运动障碍
  ADCY5-Related Dyskinesia
  Chris Shaw, Fuki Hisama, Jennifer Friedman, and Thomas D Bird.
  翻译者：尹冬冬
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-06-03 03:29:43.
• 【初稿】 ADNP相关智力低下和自闭症谱系
  ADNP-Related Intellectual Disability and Autism Spectrum Disorder
  Anke Van Dijck, Céline Helsmoortel, Geert Vandeweyer, and Frank Kooy.
  翻译者：尹冬冬
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-06-03 03:28:04.
• 【初稿】 ALK相关成神经细胞性肿瘤易感性
  ALK-Related Neuroblastic Tumor Susceptibility
  Emily G Greengard and Julie R Park.
  翻译者：梁羽
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-06-28 09:25:42.
• 【初稿】 ALS2 基因相关疾病
  ALS2-Related Disorders
  Richard W Orrell.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:03:28.
• 【初稿】 ANO5-Related Muscle Diseases
  ANO5-Related Muscle Diseases
  Sini Penttilä, Johanna Palmio, and Bjarne Udd.
  翻译者：龙盼盼,江勤凤
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-07-02 10:27:14.
• 【初稿】 APC 相关性息肉病
  APC-Associated Polyposis Conditions
  Kory W Jasperson, Swati G Patel, and Dennis J Ahnen.
  翻译者：施小六,周峻锋
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:03:43.
• 【初稿】 APOE p.Leu167del变异相关的脂质代谢紊乱
  APOE p.Leu167del-Related Lipid Disorders
  Nicole Greyshock, John R Guyton, Siby Sebastian, and Daniel Okorodudu.
  翻译者：蒋小玲
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 05:38:22.
• 【初稿】 ATP7A-Related Copper Transport Disorders
  ATP7A-Related Copper Transport Disorders
  Stephen G Kaler.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-25 04:50:18.
• 【初稿】 ATP8B1 Deficiency
  ATP8B1 Deficiency
  AS Knisely, Laura N Bull, and Benjamin L Shneider.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-09-21 10:31:34.
• 【初稿】 Achromatopsia
  Achromatopsia
  Susanne Kohl, Herbert Jägle, and Bernd Wissinger.
  翻译者：郭田田
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-03-21 10:26:57.
• 【初稿】 酸性鞘磷脂酶缺乏症
  Acid Sphingomyelinase Deficiency
  Melissa P Wasserstein and Edward H Schuchman.
  翻译者：张惠文
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-26 02:05:50.
• 【初稿】 Acute Intermittent Porphyria
  Acute Intermittent Porphyria
  Sharon D Whatley and Michael N Badminton.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-07-25 03:49:54.
• 【初稿】 Aicardi-Goutières Syndrome
  Aicardi-Goutières Syndrome
  Yanick J Crow.
  翻译者：李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-12-01 05:41:28.
• 【初稿】 Alagille 综合征
  Alagille Syndrome
  Nancy B Spinner, Laura D Leonard, and Ian D Krantz.
  翻译者：焦庆国
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-10-30 02:16:02.
• 【初稿】 亚历山大病 /Alexander Disease
  Alexander Disease
  Siddharth Srivastava and Sakkubai Naidu.
  翻译者：李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-11 09:41:26.
• 【初稿】 α地中海贫血X连锁智力障碍综合征
  Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
  Roger E Stevenson.
  翻译者：汪春丹,黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-22 03:56:26.
• 【初稿】 α地中海贫血
  Alpha-Thalassemia
  Raffaella Origa and Paolo Moi.
  翻译者：黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-27 12:32:07.
• 【初稿】 Alpha-1 Antitrypsin Deficiency
  Alpha-1 Antitrypsin Deficiency
  James K Stoller, Felicitas L Lacbawan, and Loutfi S Aboussouan.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-07-09 02:55:54.
• 【初稿】 Alport 综合征和薄基底膜肾病
  Alport Syndrome and Thin Basement Membrane Nephropathy
  Clifford E Kashtan.
  翻译者：施小六,唐海燕
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:07:39.
• 【初稿】 Amyotrophic Lateral Sclerosis Overview
  Amyotrophic Lateral Sclerosis Overview
  Lisa Kinsley and Teepu Siddique.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-07-12 11:46:48.
• 【初稿】 Androgen Insensitivity Syndrome/雄激素不敏感综合征
  Androgen Insensitivity Syndrome
  Bruce Gottlieb and Mark A Trifiro.
  翻译者：李晓侨,黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-05 12:15:30.
• 【初稿】 Angelman Syndrome
  Angelman Syndrome
  Aditi I Dagli, Jennifer Mueller, and Charles A Williams.
  翻译者：白晋丽,宋昉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-07-30 02:20:03.
• 【初稿】 无虹膜症（Aniridia）
  Aniridia
  Melanie Hingorani and Anthony Moore.
  翻译者：黄尚志,孟岩
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-05 09:57:01.
• 【初稿】 精氨酸酶缺乏症
  Arginase Deficiency
  Derek Wong, Stephen Cederbaum, and Eric A Crombez.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-06-19 05:22:49.
• 【初稿】 Arrhythmogenic Right Ventricular Cardiomyopathy
  Arrhythmogenic Right Ventricular Cardiomyopathy
  Elizabeth McNally, Heather MacLeod, and Lisa Dellefave-Castillo.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-24 03:36:23.
• 【初稿】 Arts Syndrome
  Arts Syndrome
  Arjan PM de Brouwer, John A Duley, and John Christodoulou.
  翻译者：龙盼盼,江勤凤
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-03 03:10:40.
• 【初稿】 芳基硫酸酯酶A缺陷症
  Arylsulfatase A Deficiency
  Arvan L Fluharty.
  翻译者：陈丽,延会芳,王静敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-30 01:54:01.
• 【初稿】 Ataxia with Vitamin E Deficiency
  Ataxia with Vitamin E Deficiency
  Markus Schuelke.
  翻译者：黄尚志，陈冀榛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-08 12:03:20.
• 【初稿】 共济失调毛细血管扩张症
  Ataxia-Telangiectasia
  Richard Gatti and Susan Perlman.
  翻译者：丰岱荣 (潍坊医学院), 黄尚志 (北京协和医学院)
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-27 08:14:38.
• 【初稿】 Atelosteogenesis Type 2
  Atelosteogenesis Type 2
  Luisa Bonafé, Lauréane Mittaz-Crettol, Diana Ballhausen, and Andrea Superti-Furga.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-11 11:35:13.
• 【初稿】 Autoimmune Lymphoproliferative Syndrome
  Autoimmune Lymphoproliferative Syndrome
  Jack JH Bleesing, Chinmayee B Nagaraj, and Kejian Zhang.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 01:39:44.
• 【初稿】 Autosomal Dominant Leukodystrophy with Autonomic Disease
  Autosomal Dominant Leukodystrophy with Autonomic Disease
  Norah Nahhas, Parisa Sabet Rasekh, Adeline Vanderver, and Quasar Padiath.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-04-30 04:03:51.
• 【初稿】 REN 相关常染色体显性肾小管间质性肾病
  Autosomal Dominant Tubulointerstitial Kidney Disease, REN-Related
  Stanislav Kmoch, Martina Živná, and Anthony J Bleyer.
  翻译者：施小六,李永贵
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:13:44.
• 【初稿】 Autosomal Recessive Congenital Ichthyosis
  Autosomal Recessive Congenital Ichthyosis
  Gabriele Richard.
  翻译者：王琳,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-10-05 06:42:49.
• 【初稿】 Aymé-Gripp Syndrome
  Aymé-Gripp Syndrome
  Shivarajan Manickavasagam Amudhavalli, Randi Gadea, and Karen Gripp.
  翻译者：王萍
  Initial Posting: 2020-06-25 04:43:00; Last Update: 2022-08-09 12:33:51.

• B

• 【初稿】 Birt-Hogg-Dubé 综合征
  Birt-Hogg-Dubé Syndrome
  Jorge R Toro.
  翻译者：徐文帅,徐凯峰
  Initial Posting: 2017-08-11 05:51:04; Last Update: 2020-07-30 03:44:25.
• 【初稿】 BAP1 Tumor Predisposition Syndrome
  BAP1 Tumor Predisposition Syndrome
  Robert Pilarski, Karan Rai, Colleen Cebulla, and Mohamed Abdel-Rahman.
  翻译者：黄伟伟,陈静静,郑宇华
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-10-14 05:52:28.
• 【初稿】 BRCA1和BRCA2相关的遗传性乳腺癌及卵巢癌
  BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer
  Nancie Petrucelli, Mary B Daly, and Tuya Pal.
  翻译者：弓孟春/冯时
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-08-30 05:37:53.
• 【初稿】 Barth Syndrome
  Barth Syndrome
  Carlos Ferreira, Reid Thompson, and Hilary Vernon.
  翻译者：
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-27 12:54:24.
• 【初稿】 Beckwith-Wiedemann Syndrome
  Beckwith-Wiedemann Syndrome
  Cheryl Shuman, J Bruce Beckwith, and Rosanna Weksberg.
  翻译者：尚甜甜,廖世秀
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-20 08:00:08.
• 【初稿】 Best Vitelliform Macular Dystrophy
  Best Vitelliform Macular Dystrophy
  Ian M MacDonald and Thomas Lee.
  翻译者：林伟胜,郑文英
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-06-03 02:52:35.
• 【初稿】 β地中海贫血（Beta-Thalassemia）
  Beta-Thalassemia
  Raffaella Origa.
  翻译者：黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 06:01:07.
• 【初稿】 生物素酶缺乏症
  Biotinidase Deficiency
  Barry Wolf.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-06-19 07:05:24.
• 【初稿】 小眼裂眼睑下垂和内眦赘皮倒转综合征（Blephariphimosis, ptosis, and epicanthus inversus syndrome）
  Blepharophimosis, Ptosis, and Epicanthus Inversus
  Hannah Verdin and Elfride De Baere.
  翻译者：黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-05 11:22:15.
• 【初稿】 Bloom’s Syndrome
  Bloom’s Syndrome
  Maureen M Sanz, James German, and Christopher Cunniff.
  翻译者：曾思聪
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-23 09:37:03.
• 【初稿】 Branchiootorenal Spectrum Disorders
  Branchiootorenal Spectrum Disorders
  Richard JH Smith.
  翻译者：杨冰雨,卢宇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-07-10 06:30:47.
• 【初稿】 Brugada综合征
  Brugada Syndrome
  Ramon Brugada, Oscar Campuzano, Georgia Sarquella-Brugada, Pedro Brugada, Josep Brugada, and Kui Hong.
  翻译者：洪葵
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 01:54:56.
• 【初稿】 BCL11A-Related Intellectual Disability
  BCL11A-Related Intellectual Disability
  Angela Peron, Kimberley Bradbury, David H Viskochil, and Cristina Dias.
  翻译者：王萍
  Initial Posting: 2020-06-25 04:43:20; Last Update: 2022-09-13 12:01:22.
• 【初稿】 Bohring-Opitz Syndrome/ Bohring-Opitz综合征
  Bohring-Opitz Syndrome
  Bianca Russell, Wen-Hann Tan, and John M Graham, Jr.
  翻译者：李秀蓉
  Initial Posting: 2020-06-25 04:46:58; Last Update: 2021-02-20 09:26:03.

• C

• 【初稿】 COL1A1/2-相关性成骨不全
  COL1A1/2-Related Osteogenesis Imperfecta
  Robert D Steiner, Jessica Adsit, and Donald Basel.
  翻译者：刘爽,孙晓宁,弓孟春
  Initial Posting: 2017-08-14 11:31:40; Last Update: 2017-08-29 10:15:02.
• 【初稿】 儿茶酚胺源性多形性室性心动过速
  Catecholaminergic Polymorphic Ventricular Tachycardia
  Carlo Napolitano, Silvia G Priori, and Raffaella Bloise.
  翻译者：唐思,弓孟春
  Initial Posting: 2017-08-22 01:22:15; Last Update: 2017-08-22 01:42:11.
• 【初稿】 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
  C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
  Marc Cruts, Sebastiaan Engelborghs, Julie van der Zee, and Christine Van Broeckhoven.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-08-09 09:53:19.
• 【初稿】 CARASIL病
  CARASIL
  Osamu Onodera, Hiroaki Nozaki, and Toshio Fukutake.
  翻译者：莫桂玲,柳明玉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:36:44.
• 【初稿】 CASK-Related Disorders
  CASK-Related Disorders
  Ute Moog, Gökhan Uyanik, and Kerstin Kutsche.
  翻译者：
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-03-12 03:21:46.
• 【初稿】 CATSPER-Related Male Infertility
  CATSPER-Related Male Infertility
  Michael S Hildebrand, Matthew R Avenarius, and Richard JH Smith.
  翻译者：龙盼盼,江勤凤
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-06-07 12:56:32.
• 【初稿】 CEBPA相关家族性急性髓性白血病 (AML)
  CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
  Kiran Tawana and Jude Fitzgibbon.
  翻译者：刘小凤,易彦,施小六
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-19 05:45:46.
• 【初稿】 CHARGE综合征
  CHARGE Syndrome
  Seema R Lalani, Margaret A Hefner, John W Belmont, and Sandra LH Davenport.
  翻译者：丁红珂,齐一鸣
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-02-19 04:57:28.
• 【初稿】 CLCN7 相关性骨硬化症
  CLCN7-Related Osteopetrosis
  Cristina Sobacchi, Anna Villa, Ansgar Schulz, and Uwe Kornak.
  翻译者：施小六,许金
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:28:55.
• 【初稿】 CLPB缺乏症
  CLPB Deficiency
  Saskia B Wortmann, Ron A Wevers, and Arjan PM de Brouwer.
  翻译者：罗海艳,邹永毅，
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-11-01 04:16:56.
• 【初稿】 Camurati-Engelmann Disease / Camurati-Engelmann病
  Camurati-Engelmann Disease
  Stephanie E Wallace and William R Wilcox.
  翻译者：薛婧怡（日本横浜市立大学）,严莉（中日友好医院）,王铮（北京协和医学院）,黄尚志（北京协和医学院）
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 10:54:35.
• 【初稿】 Canavan病（海绵状脑白质营养不良）
  Canavan Disease
  Reuben Matalon and Kimberlee Michals-Matalon.
  翻译者：莫桂玲,陈白雪
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:36:26.
• 【初稿】 乳糜泻
  Celiac Disease
  Annette K Taylor, Benjamin Lebwohl, Cara L Snyder, and Peter HR Green.
  翻译者：赵子夜
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-02-22 09:23:50.
• 【初稿】 Central Core Disease
  Central Core Disease
  May Christine V Malicdan and Ichizo Nishino.
  翻译者：李小敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-10-11 03:13:06.
• 【初稿】 Char Syndrome
  Char Syndrome
  Bruce D Gelb.
  翻译者：龙盼盼,江勤凤
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-20 02:57:57.
• 【初稿】 2A 型 Charcot-Marie-Tooth 神经病
  Charcot-Marie-Tooth Neuropathy Type 2A
  Stephan Züchner.
  翻译者：施小六,靳涛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:31:43.
• 【初稿】 Charcot-Marie-Tooth Neuropathy 2E/1F型
  Charcot-Marie-Tooth Neuropathy Type 2E/1F
  Peter De Jonghe and Albena K Jordanova.
  翻译者：黄尚志，刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 04:11:02.
• 【初稿】 Charcot-Marie-Tooth Neuropathy 4型
  Charcot-Marie-Tooth Neuropathy Type 4
  Thomas D Bird.
  翻译者：黄尚志，刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 04:10:17.
• 【初稿】 Charcot-Marie-Tooth Neuropathy 4C型
  Charcot-Marie-Tooth Neuropathy Type 4C
  Hamid Azzedine, Eric LeGuern, and Mustafa A Salih.
  翻译者：黄尚志，刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 04:09:38.
• 【初稿】 Charcot-Marie-Tooth Neuropathy 4H型
  Charcot-Marie-Tooth Neuropathy Type 4H
  Valérie Delague.
  翻译者：黄尚志，刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 04:08:43.
• 【初稿】 Charcot-Marie-Tooth Neuropathy 4J型
  Charcot-Marie-Tooth Neuropathy Type 4J
  Jun Li.
  翻译者：黄尚志，刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 04:42:11.
• 【初稿】 Charcot-Marie-Tooth神经病变X1型
  Charcot-Marie-Tooth Neuropathy X Type 1
  Thomas D Bird.
  翻译者：丰岱荣 (潍坊医学院), 黄尚志 (北京协和医学院)
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-08 02:50:49.
• 【初稿】 Charcot-Marie-Tooth神经病变 X 5型
  Charcot-Marie-Tooth Neuropathy X Type 5
  Jong-Won Kim and Hee-Jin Kim.
  翻译者：黄尚志，刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 03:11:03.
• 【初稿】 舞蹈病 - 棘细胞增多症
  Chorea-Acanthocytosis
  Antonio Velayos Baeza, Carol Dobson-Stone, Luca Rampoldi, Benedikt Bader, Ruth H Walker, Adrian Danek, and Anthony P Monaco.
  翻译者：罗勇,罗巍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-08 07:36:24.
• 【初稿】 Choroideremia
  Choroideremia
  Ian M MacDonald, Stacey Hume, Stephanie Chan, and Miguel C Seabra.
  翻译者：郑文英,林伟胜
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-04-13 08:36:45.
• 【初稿】 慢性肉芽肿病
  Chronic Granulomatous Disease
  Jennifer W Leiding and Steven M Holland.
  翻译者：徐宇泽,韩明亚
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-10-19 11:53:58.
• 【初稿】 Citrin Deficiency
  Citrin Deficiency
  Takeyori Saheki and Yuan-Zong Song.
  翻译者：郑文英,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-29 08:43:00.
• 【初稿】 Citrullinemia Type I
  Citrullinemia Type I
  Shane C Quinonez and Jess G Thoene.
  翻译者：王萍,金润铭
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2019-11-04 01:34:52.
• 【初稿】 Classic Galactosemia and Clinical Variant Galactosemia
  Classic Galactosemia and Clinical Variant Galactosemia
  Gerard T Berry.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 05:20:37.
• 【初稿】 Cockayne综合征
  Cockayne Syndrome
  Vincent Laugel.
  翻译者：张丰丰
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-06-10 08:39:53.
• 【初稿】 Coffin-Lowry综合征
  Coffin-Lowry Syndrome
  R Curtis Rogers and Fatima E Abidi.
  翻译者：王云，黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-16 09:42:08.
• 【初稿】 VI型胶原相关疾病
  Collagen Type VI-Related Disorders
  Anne Katrin Lampe, Kevin M Flanigan, Katharine Mary Bushby, and Debbie Hicks.
  翻译者：龙盼盼
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-04-15 06:07:04.
• 【初稿】 先天性耳聋伴膜迷路发育不全, 小耳畸形, 和小牙畸形
  Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia
  Jessica Ordonez and Mustafa Tekin.
  翻译者：孔雨轩,卢宇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-02-20 12:06:56.
• 【初稿】 Congenital Diaphragmatic Hernia Overview
  Congenital Diaphragmatic Hernia Overview
  Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman.
  翻译者：余岚
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-05-07 10:10:39.
• 【初稿】 先天性N-连接和多通路糖基化障碍概述
  Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview
  Susan E Sparks and Donna M Krasnewich.
  翻译者：陈婷
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-14 10:02:45.
• 【初稿】 Congenital Dyserythropoietic Anemia Type I
  Congenital Dyserythropoietic Anemia Type I
  Hannah Tamary and Orly Dgany.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-01-06 04:37:36.
• 【初稿】 Congenital Erythropoietic Porphyria
  Congenital Erythropoietic Porphyria
  Angelika Erwin, Manisha Balwani, Robert J Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-19 11:51:41.
• 【初稿】 先天性肌营养不良概述
  Congenital Muscular Dystrophy Overview
  Susan E Sparks, Susana Quijano-Roy, Amy Harper, Anne Rutkowski, Erynn Gordon, Eric P Hoffman, and Elena Pegoraro.
  翻译者：齐一鸣,丁红珂
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-02-19 04:57:02.
• 【初稿】 Congenital Myasthenic Syndromes
  Congenital Myasthenic Syndromes
  Angela Abicht, Juliane Müller, S, and Hanns Lochmüller.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-07-02 05:12:29.
• 【初稿】 Congenital Stromal Corneal Dystrophy
  Congenital Stromal Corneal Dystrophy
  Eyvind Rødahl, Per M Knappskog, Cecilie Bredrup, and Helge Boman.
  翻译者：廖晓佳,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 06:05:21.
• 【初稿】 Cornelia de Lange Syndrome
  Cornelia de Lange Syndrome
  Matthew A Deardorff, Sarah E Noon, and Ian D Krantz.
  翻译者：张丰丰
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-28 04:00:11.
• 【初稿】 Costello 综合征
  Costello Syndrome
  Karen W Gripp and Angela E Lin.
  翻译者：许珊珊，林芳菲
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 06:09:22.
• 【初稿】 囊性纤维化和先天性输精管缺如
  Cystic Fibrosis and Congenital Absence of the Vas Deferens
  Thida Ong, Susan G Marshall, Barbara A Karczeski, Darci L Sternen, Edith Cheng, and Garry R Cutting.
  翻译者：刘雅萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:39:11.
• 【初稿】 CDK13-Related Disorder
  CDK13-Related Disorder
  Bret Bostwick.
  翻译者：肖红梅
  Initial Posting: 2020-06-25 04:49:50; Last Update: 2021-05-24 10:15:31.
• 【初稿】 先天性无痛症概述
  Congenital Insensitivity to Pain Overview
  Katherine Rose Schon, Alasdair Patrick John Parker, and Christopher Geoffrey Woods.
  翻译者：唐丽君,江鑫,贾蓓
  Initial Posting: 2020-06-25 05:59:28; Last Update: 2021-01-31 05:44:25.

• D

• 【初稿】 扩张型心肌病概述
  Dilated Cardiomyopathy Overview
  Ray E Hershberger and Ana Morales.
  翻译者：桑铭辰,弓孟春
  Initial Posting: 2017-08-22 05:23:01; Last Update: 2017-08-22 05:23:01.
• 【初稿】 DEPDC5 相关癫痫
  DEPDC5-Related Epilepsy
  Stéphanie Baulac and Sarah Weckhuysen.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:40:34.
• 【初稿】 DFNA2 Nonsyndromic Hearing Loss
  DFNA2 Nonsyndromic Hearing Loss
  Richard JH Smith and Michael Hildebrand.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-04-07 03:56:21.
• 【初稿】 DFNX1 Nonsyndromic Hearing Loss and Deafness
  DFNX1 Nonsyndromic Hearing Loss and Deafness
  Huijun Yuan and Xue Z Liu.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-04-14 10:57:33.
• 【初稿】 DYT1 Early-Onset Isolated Dystonia
  DYT1 Early-Onset Isolated Dystonia
  Laurie Ozelius and Naomi Lubarr.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-03 04:04:57.
• 【初稿】 耳聋和近视综合征
  Deafness and Myopia Syndrome
  Jessica Ordonez and Mustafa Tekin.
  翻译者：刘燕,卢宇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-02-20 11:25:08.
• 【初稿】 Deafness-Dystonia-Optic Neuronopathy Syndrome
  Deafness-Dystonia-Optic Neuronopathy Syndrome
  Lisbeth Tranebjærg.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-11 10:57:40.
• 【初稿】 Dent 病
  Dent Disease
  John C Lieske, Dawn S Milliner, Lada Beara-Lasic, Peter Harris, Katharina Hopp, Andrea Cogal, and Kari Mattison.
  翻译者：焦庆国
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-10-28 10:16:46.
• 【初稿】 Diamond-Blackfan Anemia
  Diamond-Blackfan Anemia
  Catherine Clinton and Hanna T Gazda.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 08:29:41.
• 【初稿】 Donnai-Barrow综合征
  Donnai-Barrow Syndrome
  Sibel Kantarci, Dian Donnai, Kristin M Noonan, and Barbara R Pober.
  翻译者：敖琴
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-27 11:26:16.
• 【初稿】 多巴胺β-羟化酶缺乏症
  Dopamine Beta-Hydroxylase Deficiency
  David Robertson and Emily M Garland.
  翻译者：敖琴
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-27 11:26:47.
• 【初稿】 Duarte Variant Galactosemia
  Duarte Variant Galactosemia
  Judith L Fridovich-Keil, Michael J Gambello, Rani H Singh, and J Daniel Sharer.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 05:21:21.
• 【初稿】 Dyskeratosis Congenita
  Dyskeratosis Congenita
  Sharon A Savage.
  翻译者：曾思聪
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-23 09:36:20.
• 【初稿】 Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
  Karin Tuschl, Peter T Clayton, Sidney M Gospe, Jr, and Philippa B Mills.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-08-31 09:55:52.
• 【初稿】 Dystrophic Epidermolysis Bullosa
  Dystrophic Epidermolysis Bullosa
  Ellen G Pfendner and Anne W Lucky.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 05:33:07.

• E

• 【初稿】 Ehlers-Danlos 综合征, 脊柱后凸畸形型
  Ehlers-Danlos Syndrome, Kyphoscoliotic Form
  Heather N Yeowell and Beat Steinmann.
  翻译者：马懿,扶媛媛
  Initial Posting: 2017-08-22 01:11:38; Last Update: 2018-05-11 11:20:34.
• 【初稿】 ELANE-相关性中性粒细胞减少症
  ELANE-Related Neutropenia
  David C Dale.
  翻译者：敖琴
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-13 03:09:03.
• 【初稿】 EPB42相关性遗传性球形红细胞增多症
  EPB42-Related Hereditary Spherocytosis
  Theodosia A Kalfa, Jessica A Connor, and Amber H Begtrup.
  翻译者：敖琴
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-10 09:58:52.
• 【初稿】 EXOSC3-Related Pontocerebellar Hypoplasia
  EXOSC3-Related Pontocerebellar Hypoplasia
  Veerle RC Eggens, Peter G Barth, and Frank Baas.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-09-07 04:48:13.
• 【初稿】 EZH2-Related Overgrowth
  EZH2-Related Overgrowth
  Katrina Tatton-Brown and Nazneen Rahman.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-08-11 07:59:22.
• 【初稿】 早发型家族性阿尔兹海默病
  Early-Onset Familial Alzheimer Disease
  Thomas D Bird.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-10 10:16:55.
• 【初稿】 Ehlers-Danlos 综合征, 经典型
  Ehlers-Danlos Syndrome, Classic Type
  Fransiska Malfait, Richard Wenstrup, and Anne De Paepe.
  翻译者：马艳云，扶媛媛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 06:23:59.
• 【初稿】 Ehlers-Danlos综合征, 超动力型
  Ehlers-Danlos Syndrome, Hypermobility Type
  Howard P Levy.
  翻译者：马艳云，扶媛媛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-28 10:37:22.
• 【初稿】 Emanuel 综合征
  Emanuel Syndrome
  Beverly S Emanuel, Elaine H Zackai, and Livija Medne.
  翻译者：王昊
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-13 03:33:40.
• 【初稿】 Emery-Dreifuss肌营养不良
  Emery-Dreifuss Muscular Dystrophy
  Gisèle Bonne, France Leturcq, and Rabah Ben Yaou.
  翻译者：丁灿
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-13 03:19:57.
• 【初稿】 Enlarged Parietal Foramina
  Enlarged Parietal Foramina
  Andrew OM Wilkie and Lampros A Mavrogiannis.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-09-23 10:34:15.
• 【初稿】 Epidermolysis Bullosa Simplex
  Epidermolysis Bullosa Simplex
  Ellen G Pfendner and Anna L Bruckner.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-02-05 11:13:00.
• 【初稿】 Epidermolysis Bullosa with Pyloric Atresia
  Epidermolysis Bullosa with Pyloric Atresia
  Ellen G Pfendner and Anne W Lucky.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-11-02 10:49:41.
• 【初稿】 Epimerase Deficiency Galactosemia
  Epimerase Deficiency Galactosemia
  Judith Fridovich-Keil, Lora Bean, Miao He, and Richard Schroer.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-03-26 10:18:47.
• 【初稿】 Episodic Ataxia Type 1
  Episodic Ataxia Type 1
  Maria Cristina D’Adamo.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-12-01 09:32:53.
• 【初稿】 Erythropoietic Protoporphyria, Autosomal Recessive
  Erythropoietic Protoporphyria, Autosomal Recessive
  Manisha Balwani, Joseph Bloomer, Robert Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-05 02:18:14.
• 【初稿】 Esophageal Atresia/Tracheoesophageal Fistula Overview
  Esophageal Atresia/Tracheoesophageal Fistula Overview
  Daryl A Scott.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-11-03 03:37:39.
• 【初稿】 ETV6 Thrombocytopenia and Predisposition to Leukemia
  ETV6 Thrombocytopenia and Predisposition to Leukemia
  Christopher C Porter, Jorge Di Paola, and Bojana Pencheva.
  翻译者：王萍,金润铭
  Initial Posting: 2021-05-20 05:50:39; Last Update: 2022-06-30 02:56:04.

• F

• 【初稿】 家族性高胆固醇血症
  Familial Hypercholesterolemia
  Emily Youngblom, Mitchel Pariani, and Joshua W Knowles.
  翻译者：徐昊鹏,弓孟春
  Initial Posting: 2017-08-22 03:17:20; Last Update: 2017-08-22 05:17:29.
• 【初稿】 FBLN5-Related Cutis Laxa
  FBLN5-Related Cutis Laxa
  Lionel Van Maldergem and Bart Loeys.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-12-12 04:37:46.
• 【初稿】 FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
  FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
  Mohammed Almannai, Hongzheng Dai, Ayman W El-Hattab, and Lee-Jun C Wong.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-01 11:24:33.
• 【初稿】 FGFR相关的颅缝早闭综合征
  FGFR-Related Craniosynostosis Syndromes
  Nathaniel H Robin, Marni J Falk, and Chad R Haldeman-Englert.
  翻译者：鲁艳芹
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-05-31 07:04:54.
• 【初稿】 FMR1相关疾病
  FMR1-Related Disorders
  Robert A Saul and Jack C Tarleton.
  翻译者：陈丽娟, 王小冬
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-09-22 08:02:36.
• 【初稿】 FRMD7-Related Infantile Nystagmus
  FRMD7-Related Infantile Nystagmus
  Mervyn G Thomas, Shery Thomas, Anil Kumar, Frank A Proudlock, and Irene Gottlob.
  翻译者：林伟胜,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-03-17 04:06:05.
• 【初稿】 法布里病
  Fabry Disease
  Atul Mehta and Derralynn A Hughes.
  翻译者：莫桂玲,毕欣
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:36:54.
• 【初稿】 面肩胛肱型肌营养不良症
  Facioscapulohumeral Muscular Dystrophy
  Richard JLF Lemmers, Daniel G Miller, and Silvere M van der Maarel.
  翻译者：卓宝文,许雪青
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-08-14 11:50:08.
• 【初稿】 Factor V Leiden Thrombophilia
  Factor V Leiden Thrombophilia
  Jody L Kujovich.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-08-07 03:47:42.
• 【初稿】 Familial Exudative Vitreoretinopathy, Autosomal Dominant
  Familial Exudative Vitreoretinopathy, Autosomal Dominant
  Carmel Toomes and Louise Downey.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-03-21 01:55:23.
• 【初稿】 家族性高胰岛素血症
  Familial Hyperinsulinism
  Benjamin Glaser.
  翻译者：文杰,韩明亚
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-10-16 04:39:10.
• 【初稿】 家族性脂蛋白脂酶缺乏症
  Familial Lipoprotein Lipase Deficiency
  John R Burnett, Amanda J Hooper, and Robert A Hegele.
  翻译者：殷昆仑，扶媛媛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-28 10:56:43.
• 【初稿】 Familial Mediterranean Fever
  Familial Mediterranean Fever
  Mordechai Shohat.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-11-04 01:29:13.
• 【初稿】 家族性7号单体综合征
  Familial Monosomy 7 Syndrome
  Jennifer JD Morrissette, Gerald Wertheim, and Timothy Olson.
  翻译者：郭莉,胡蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 08:48:58.
• 【初稿】 Familial Porphyria Cutanea Tarda
  Familial Porphyria Cutanea Tarda
  Lawrence U Liu, John Phillips, Herbert Bonkovsky; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-23 11:37:51.
• 【初稿】 Hereditary Transthyretin Amyloidosis
  Hereditary Transthyretin Amyloidosis
  Yoshiki Sekijima, Kunihiro Yoshida, Takahiko Tokuda, and Shu-ichi Ikeda.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-07-02 04:45:02.
• 【初稿】 Fanconi Anemia
  Fanconi Anemia
  Parinda A Mehta and Jakub Tolar.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-27 07:28:29.
• 【初稿】 Floating-Harbor综合征
  Floating-Harbor Syndrome
  Malgorzata JM Nowaczyk, Sarah M Nikkel, and Susan M White.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:40:44.
• 【初稿】 弗里德赖希共济失调
  Friedreich Ataxia
  Sanjay I Bidichandani and Martin B Delatycki.
  翻译者：李吉学
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-18 03:33:15.
• 【初稿】 Fukuyama Congenital Muscular Dystrophy
  Fukuyama Congenital Muscular Dystrophy
  Kayoko Saito.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-07-13 04:03:18.
• 【初稿】 FKBP14 脊柱后凸型埃莱尔-当洛综合征
  FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome
  Cecilia Giunta, Marianne Rohrbach, Christine Fauth, and Matthias Baumann.
  翻译者：鲁艳芹
  Initial Posting: 2020-06-25 06:10:07; Last Update: 2021-05-30 08:30:51.

• G

• 【初稿】 GARS相关的轴突神经病变
  GARS-Associated Axonal Neuropathy
  Lev G Goldfarb and Kumaraswamy Sivakumar.
  翻译者：丰岱荣 (潍坊医学院), 黄尚志 (北京协和医学院)
  Initial Posting: 2017-08-22 02:59:35; Last Update: 2018-05-11 03:17:40.
• 【初稿】 G6PC3 Deficiency
  G6PC3 Deficiency
  Siddharth Banka.
  翻译者：周静
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-26 03:28:40.
• 【初稿】 GATA1-Related X-Linked Cytopenia
  GATA1-Related X-Linked Cytopenia
  Stella T Chou, Melissa A Kacena, Mitchell J Weiss, and Wendy H Raskind.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-11-04 12:55:54.
• 【初稿】 GDAP1相关的遗传性运动和感觉神经病（GDAP1-Related Hereditary Motor and Sensory Neuropathy）
  GDAP1-Related Hereditary Motor and Sensory Neuropathy
  Thomas D Bird.
  翻译者：黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-06 12:22:12.
• 【初稿】 GTP环化水解酶1-缺乏型多巴胺反应性肌张力障碍
  GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
  Yoshiaki Furukawa.
  翻译者：商慧芳-陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:02:52.
• 【初稿】 Gaucher Disease
  Gaucher Disease
  Gregory M Pastores and Derralynn A Hughes.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-11 09:52:24.
• 【初稿】 Genetic Atypical Hemolytic-Uremic Syndrome
  Genetic Atypical Hemolytic-Uremic Syndrome
  Marina Noris, Elena Bresin, Caterina Mele, and Giuseppe Remuzzi.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-05-18 11:47:08.
• 【初稿】 Glycogen Storage Disease Type I
  Glycogen Storage Disease Type I
  Deeksha S Bali, Yuan-Tsong Chen, Stephanie Austin, and Jennifer L Goldstein.
  翻译者：王若光,魏魏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-25 10:59:35.
• 【初稿】 糖原贮积病VI型
  Glycogen Storage Disease Type VI
  Aditi I Dagli and David A Weinstein.
  翻译者：文杰,韩明亚
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-10-19 02:13:43.
• 【初稿】 GRIN2B-Related Neurodevelopmental Disorder/GRIN2B相关的神经发育障碍
  GRIN2B-Related Neurodevelopmental Disorder
  Konrad Platzer and Johannes R Lemke.
  翻译者：李秀蓉
  Initial Posting: 2020-06-25 06:17:38; Last Update: 2021-04-05 04:15:02.

• H

• 【初稿】 高鸟氨酸-高血氨-同型瓜氨酸尿症综合征
  Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
  Jose Camacho and Natalia Rioseco-Camacho.
  翻译者：韩连书
  Initial Posting: 2017-08-22 01:47:19; Last Update: 2017-08-22 02:18:17.
• 【初稿】 可遗传的肺动脉高压
  Heritable Pulmonary Arterial Hypertension
  Eric D Austin, James E Loyd, and John A Phillips, III.
  翻译者：赵一,弓孟春
  Initial Posting: 2017-08-22 05:21:33; Last Update: 2017-08-22 05:21:33.
• 【初稿】 遗传性共济失调概述
  Hereditary Ataxia Overview
  Thomas D Bird.
  翻译者：孔梓任,弓孟春
  Initial Posting: 2017-08-22 05:36:14; Last Update: 2017-08-23 03:12:39.
• 【初稿】 HFE相关的遗传性血色病
  HFE-Associated Hereditary Hemochromatosis
  Rebecca Seckington and Lawrie Powell.
  翻译者：贾佳,孙宇静
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-02-14 10:57:31.
• 【初稿】 Hand-Foot-Genital Syndrome
  Hand-Foot-Genital Syndrome
  Jeffrey W Innis.
  翻译者：李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-09-05 05:17:15.
• 【初稿】 Hemophagocytic Lymphohistiocytosis, Familial
  Hemophagocytic Lymphohistiocytosis, Familial
  Kejian Zhang, Alexandra H Filipovich, Judith Johnson, Rebecca A Marsh, and Joyce Villanueva.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 11:08:14.
• 【初稿】 血友病 A
  Hemophilia A
  Barbara A Konkle, Haley Huston, and Shelley Nakaya Fletcher.
  翻译者：刘小凤，易彦，施小六
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-19 02:34:19.
• 【初稿】 血友病 B
  Hemophilia B
  Barbara A Konkle, Haley Huston, and Shelley Nakaya Fletcher.
  翻译者：罗千惠，易彦，施小六
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-19 04:48:21.
• 【初稿】 Hepatic Veno-Occlusive Disease with Immunodeficiency
  Hepatic Veno-Occlusive Disease with Immunodeficiency
  Tony Roscioli, John B Ziegler, Michael Buckley, and Melanie Wong.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-08-11 10:51:13.
• 【初稿】 Hepatoerythropoietic Porphyria
  Hepatoerythropoietic Porphyria
  Lawrence U Liu, John Phillips, Herbert Bonkovsky; Porphyrias Consortium of the Rare Diseases Clinical Research Network.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-12-01 11:02:49.
• 【初稿】 遗传性弥漫性胃癌
  Hereditary Diffuse Gastric Cancer
  Pardeep Kaurah and David G Huntsman.
  翻译者：赵子夜,罗天航
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-20 07:33:10.
• 【初稿】 Hereditary Dystonia Overview
  Hereditary Dystonia Overview
  Christine Klein, Katja Lohmann, Connie Marras, and Alexander Münchau.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-08-24 01:59:14.
• 【初稿】 遗传性纤维化硬皮病伴肌腱挛缩，肌病和肺纤维化/Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
  Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
  Sandra Mercier, Sébastien Küry, and Sébastien Barbarot.
  翻译者：李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-12-08 07:34:49.
• 【初稿】 Hereditary Fructose Intolerance
  Hereditary Fructose Intolerance
  Peter Baker, II, Lachlan Ayres, Sommer Gaughan, and James Weisfeld-Adams.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 10:20:35.
• 【初稿】 Hereditary Hearing Loss and Deafness Overview
  Hereditary Hearing Loss and Deafness Overview
  A Eliot Shearer, Michael S Hildebrand, and Richard JH Smith.
  翻译者：张彦，詹文丽
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-02-19 04:56:38.
• 【初稿】 遗传性出血性毛细血管扩张症
  Hereditary Hemorrhagic Telangiectasia
  Jamie McDonald and Reed E Pyeritz.
  翻译者：于倩,易彦,施小六
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-19 02:17:45.
• 【初稿】 遗传性多发性骨软骨瘤
  Hereditary Multiple Osteochondromas
  Wim Wuyts, Gregory A Schmale, Howard A Chansky, and Wendy H Raskind.
  翻译者：王剑
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:08:28.
• 【初稿】 遗传性痉挛性截瘫概述
  Hereditary Spastic Paraplegia Overview
  John K Fink.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-30 02:55:36.
• 【初稿】 Hirschsprung病概览
  Hirschsprung Disease Overview
  Melissa A Parisi.
  翻译者：赵子夜
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-01-03 10:38:48.
• 【初稿】 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
  Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency
  Stephanie J Sacharow, Jonathan D Picker, and Harvey L Levy.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-19 01:37:55.
• 【初稿】 Huntington Disease
  Huntington Disease
  Simon C Warby, Rona K Graham, and Michael R Hayden.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-16 12:37:16.
• 【初稿】 类亨廷顿病综合征2
  Huntington Disease-Like 2
  Russell L Margolis.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-30 02:50:16.
• 【初稿】 Hyperekplexia
  Hyperekplexia
  Marina AJ Tijssen and Mark I Rees.
  翻译者：肖红梅
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-05-30 08:06:02.
• 【初稿】 肥厚性心肌病
  Hypertrophic Cardiomyopathy Overview
  Allison L Cirino and Carolyn Ho.
  翻译者：洪葵
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-10 04:35:35.
• 【初稿】 软骨发育不良
  Hypochondroplasia
  Michael B Bober, Gary A Bellus, Sarah M Nikkel, and George E Tiller.
  翻译者：王剑
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:14:17.
• 【初稿】 髓鞘形成低下与先天性白内障
  Hypomyelination and Congenital Cataract
  Roberta Biancheri, Federico Zara, Claudio Bruno, Elisabetta Gazzerro, Andrea Rossi, Marjo S van der Knaap, and Carlo Minetti.
  翻译者：冀浩然,王静敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-30 01:48:49.
• 【初稿】 Hypophosphatasia
  Hypophosphatasia
  Etienne Mornet and Mark E Nunes.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-17 10:57:57.
• 【初稿】 Huppke-Brendel Syndrome
  Huppke-Brendel Syndrome
  Parayil Sankaran Bindu, Shwetha Chiplunkar, VP Vandana, Madhu Nagappa, Periyasamy Govindaraj, and Arun Taly.
  翻译者：王萍
  Initial Posting: 2020-06-25 06:25:37; Last Update: 2022-10-30 04:30:59.
• 【初稿】 Hyperphosphatemic Familial Tumoral Calcinosis
  Hyperphosphatemic Familial Tumoral Calcinosis
  Mary Scott Ramnitz, Rachel I Gafni, and Michael T Collins.
  翻译者：王萍
  Initial Posting: 2020-06-25 06:26:37; Last Update: 2022-11-12 05:01:51.

• I

• 【初稿】 IPEX Syndrome
  IPEX Syndrome
  Mark C Hannibal and Troy Torgerson.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 02:46:42.
• 【初稿】 Infantile-Onset Spinocerebellar Ataxia
  Infantile-Onset Spinocerebellar Ataxia
  Kaisu Nikali and Tuula Lönnqvist.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-05-08 03:35:45.
• 【初稿】 孤立性促性腺激素释放激素(GnRH)缺陷症
  Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency
  Ravikumar Balasubramanian and William F Crowley, Jr.
  翻译者：丰岱荣 (潍坊医学院), 黄尚志 (北京协和医学院)
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-27 08:10:06.
• 【初稿】 Isolated Methylmalonic Acidemia
  Isolated Methylmalonic Acidemia
  Irini Manoli, Jennifer L Sloan, and Charles P Venditti.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-03-17 04:07:35.

• J

• 【初稿】 Joubert 综合征
  Joubert Syndrome
  Melissa Parisi and Ian Glass.
  翻译者：李海波,向菁菁
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-17 11:00:20.
• 【初稿】 Junctional Epidermolysis Bullosa
  Junctional Epidermolysis Bullosa
  Ellen G Pfendner and Anne W Lucky.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 10:26:57.
• 【初稿】 青少年型遗传性血色素沉着症
  Juvenile Hereditary Hemochromatosis
  Y Paul Goldberg.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:26:43.
• 【初稿】 幼年性息肉病综合征
  Juvenile Polyposis Syndrome
  Joy Larsen Haidle and James R Howe.
  翻译者：施小六,周峻锋
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:27:10.

• K

• 【初稿】 KCNQ2相关疾病
  KCNQ2-Related Disorders
  Francesco Miceli, Maria Virginia Soldovieri, Nishtha Joshi, Sarah Weckhuysen, Edward Cooper, and Maurizio Taglialatela.
  翻译者：杜滢，王小冬
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:38:11.
• 【初稿】 KCNQ3-相关疾病
  KCNQ3-Related Disorders
  Francesco Miceli, Maria Virginia Soldovieri, Nishtha Joshi, Sarah Weckhuysen, Edward C Cooper, and Maurizio Taglialatela.
  翻译者：焦庆国
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-01-13 08:04:14.
• 【初稿】 歌舞伎综合征
  Kabuki Syndrome
  Margaret P Adam, Louanne Hudgins, and Mark Hannibal.
  翻译者：孙惟佳,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:28:03.
• 【初稿】 Kleefstra 综合征
  Kleefstra Syndrome
  Tjitske Kleefstra, Willy M Nillesen, and Helger G Yntema.
  翻译者：谢波波,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 08:28:28.
• 【初稿】 Krabbe Disease
  Krabbe Disease
  David A Wenger.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-28 11:00:41.
• 【初稿】 KMT2B-相关性肌张力障碍
  KMT2B-Related Dystonia
  Lucia Abela and Manju Ann Kurian.
  翻译者：焦庆国
  Initial Posting: 2020-06-25 06:33:32; Last Update: 2021-01-23 06:59:20.

• L

• 【初稿】 伴脊髓、脑干受累、脑白质乳酸升高的脑白质病
  Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
  Marjo S van der Knaap and Gajja S Salomons.
  翻译者：孔玮晶
  Initial Posting: 2017-08-11 05:40:04; Last Update: 2017-08-22 05:45:56.
• 【初稿】 长QT间期综合征
  Long QT Syndrome
  Mariëlle Alders and Imke Christiaans.
  翻译者：王远玭,弓孟春
  Initial Posting: 2017-08-14 05:56:37; Last Update: 2017-08-21 04:54:39.
• 【初稿】 LRRK2相关帕金森病
  LRRK2-Related Parkinson Disease
  Joanne Trinh, Matthew Farrer, Owen A Ross, and Ilaria Guella.
  翻译者：陈永平
  Initial Posting: 2017-08-22 05:25:40; Last Update: 2017-08-22 05:25:40.
• 【初稿】 L1 Syndrome
  L1 Syndrome
  Connie Stumpel and Yvonne J Vos.
  翻译者：段红蕾
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-09-24 09:05:24.
• 【初稿】 LAMA2-Related Muscular Dystrophy
  LAMA2-Related Muscular Dystrophy
  Susana Quijano-Roy, Susan E Sparks, and Anne Rutkowski.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-07-20 05:21:41.
• 【初稿】 LMNA相关的扩张型心肌病
  LMNA-Related Dilated Cardiomyopathy
  Ray E Hershberger and Ana Morales.
  翻译者：方春妮，林敏瑜
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-28 10:04:27.
• 【初稿】 Leber Congenital Amaurosis
  Leber Congenital Amaurosis
  Richard G Weleber, Peter J Francis, Karmen M Trzupek, and Catie Beattie.
  翻译者：林伟胜,郑文英
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-05-07 10:27:04.
• 【初稿】 Leber Hereditary Optic Neuropathy
  Leber Hereditary Optic Neuropathy
  Patrick Yu-Wai-Man and Patrick F Chinnery.
  翻译者：林伟胜,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-25 09:09:46.
• 【初稿】 Lesch-Nyhan 综合征
  Lesch-Nyhan Syndrome
  William L Nyhan, J Patrick O'Neill, Hyder A Jinnah, and James C Harris.
  翻译者：李海波,闫露露
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-01-27 02:16:49.
• 【初稿】 脑白质营养不良概述
  Leukodystrophy Overview
  Adeline Vanderver, Davide Tonduti, Raphael Schiffmann, Johanna Schmidt, and Marjo S van der Knaap.
  翻译者：王静敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-30 02:02:25.
• 【初稿】 Li-Fraumeni综合征
  Li-Fraumeni Syndrome
  Katherine Schneider, Kristin Zelley, Kim E Nichols, and Judy Garber.
  翻译者：赵子夜
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-01-03 11:36:34.
• 【初稿】 Loeys-Dietz 综合征
  Loeys-Dietz Syndrome
  Bart L Loeys and Harry C Dietz.
  翻译者：陈文,扶媛媛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 02:14:10.
• 【初稿】 Lowe Syndrome
  Lowe Syndrome
  Richard Alan Lewis, Robert L Nussbaum, and Eileen D Brewer.
  翻译者：孙君慧,祁鸣
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-02-08 09:12:08.
• 【初稿】 Lymphoproliferative Disease, X-Linked
  Lymphoproliferative Disease, X-Linked
  Kejian Zhang, Emily Wakefield, and Rebecca Marsh.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-06-04 09:59:58.
• 【初稿】 Lynch综合征
  Lynch Syndrome
  Wendy Kohlmann and Stephen B Gruber.
  翻译者：高显华,赵子夜
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-01-03 11:49:01.
• 【初稿】 Lysinuric Protein Intolerance
  Lysinuric Protein Intolerance
  Gianfranco Sebastio and Virginia Nunes.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-17 09:19:45.
• 【初稿】 Lysosomal Acid Lipase Deficiency
  Lysosomal Acid Lipase Deficiency
  Erin P Hoffman, Marci L Barr, Monica A Giovanni, and Michael F Murray.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-04-18 10:05:41.
• 【初稿】 Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
  Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview
  Neruban Kumaran, Mark E Pennesi, Paul Yang, Karmen M Trzupek, Catherine Schlechter, Anthony T Moore, Richard G Weleber, and Michel Michaelides.
  翻译者：孙君慧,祁鸣
  Initial Posting: 2020-06-25 06:36:15; Last Update: 2021-02-09 02:31:18.

• M

• 【初稿】 枫糖尿病
  Maple Syrup Urine Disease
  Kevin A Strauss, Erik G Puffenberger, and D Holmes Morton.
  翻译者：韩连书
  Initial Posting: 2017-08-22 01:44:15; Last Update: 2017-08-29 10:12:55.
• 【初稿】 线粒体病综述
  Mitochondrial Disorders Overview
  Patrick F Chinnery.
  翻译者：王伟
  Initial Posting: 2017-08-22 05:33:05; Last Update: 2017-08-28 02:20:35.
• 【初稿】 线粒体DNA相关的Leigh综合征及NARP
  Mitochondrial DNA-Associated Leigh Syndrome and NARP
  David R Thorburn, Joyeeta Rahman, and Shamima Rahman.
  翻译者：李溪远
  Initial Posting: 2017-08-29 10:20:09; Last Update: 2017-08-29 11:00:54.
• 【初稿】 MAPT相关疾病
  MAPT-Related Disorders
  John C van Swieten, Sonia M Rosso, and Peter Heutink.
  翻译者：胡亚芳
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 09:01:58.
• 【初稿】 MBD5 Haploinsufficiency
  MBD5 Haploinsufficiency
  Sureni V Mullegama, Roberto Mendoza-Londono, and Sarah H Elsea.
  翻译者：安宇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-04 02:01:55.
• 【初稿】 MECP2重复综合征
  MECP2 Duplication Syndrome
  Hilde Van Esch.
  翻译者：周祎,林少宾
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-19 09:01:21.
• 【初稿】 MECP2 -相关疾病
  MECP2-Related Disorders
  John Christodoulou and Gladys Ho.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-27 08:46:36.
• 【初稿】 MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
  MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome
  Ayman W El-Hattab, Fernando Scaglia, William J Craigen, and Lee-Jun C Wong.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-02-05 11:51:09.
• 【初稿】 MUTYH相关息肉病
  MUTYH-Associated Polyposis
  Maartje Nielsen, Henry Lynch, Elena Infante, and Randall Brand.
  翻译者：赵子夜,蒋宇亮
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-01-05 10:30:50.
• 【初稿】 MYH9相关疾病
  MYH9-Related Disorders
  Anna Savoia and Alessandro Pecci.
  翻译者：易彦，施小六
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-20 03:17:25.
• 【初稿】 马凡综合征
  Marfan Syndrome
  Harry Dietz.
  翻译者：杨航，扶媛媛
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-30 09:26:48.
• 【初稿】 伴皮层下囊肿的巨脑性白质脑病
  Megalencephalic Leukoencephalopathy with Subcortical Cysts
  Marjo S van der Knaap and Gert C Scheper.
  翻译者：曹彬彬,王静敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-11-04 12:19:09.
• 【初稿】 Mitochondrial DNA Deletion Syndromes
  Mitochondrial DNA Deletion Syndromes
  Salvatore DiMauro and Michio Hirano.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-05-26 03:42:18.
• 【初稿】 Mitochondrial Membrane Protein-Associated Neurodegeneration
  Mitochondrial Membrane Protein-Associated Neurodegeneration
  Allison Gregory, Monika Hartig, Holger Prokisch, Tomasz Kmiec, Penelope Hogarth, and Susan J Hayflick.
  翻译者：李小敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-01 08:13:00.
• 【初稿】 线粒体神经胃肠型脑病
  Mitochondrial Neurogastrointestinal Encephalopathy Disease
  Michio Hirano.
  翻译者：陈婷
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-10 03:21:43.
• 【初稿】 黏脂贮积症IIIα/β型
  Mucolipidosis III Alpha/Beta
  Jules G Leroy, Sara S Cathey, and Michael J Friez.
  翻译者：张惠文
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 04:06:24.
• 【初稿】 黏脂贮积症IIIγ型
  Mucolipidosis III Gamma
  Annick Raas-Rothschild and Ronen Spiegel.
  翻译者：张惠文
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 04:27:16.
• 【初稿】 Mucolipidosis IV
  Mucolipidosis IV
  Raphael Schiffmann, Yulia Grishchuk, and Ehud Goldin.
  翻译者：高勇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-16 02:28:05.
• 【初稿】 黏多糖贮积症I型
  Mucopolysaccharidosis Type I
  Lorne A Clarke.
  翻译者：张惠文
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-08-31 01:24:13.
• 【初稿】 黏多糖贮积症 II型
  Mucopolysaccharidosis Type II
  Maurizio Scarpa.
  翻译者：张惠文
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-27 04:46:37.
• 【初稿】 Mucopolysaccharidosis Type IVA
  Mucopolysaccharidosis Type IVA
  Debra S Regier, Matthew Oetgen, and Pranoot Tanpaiboon.
  翻译者：郭龙（日本理化学研究所）,严莉（中日友好医院）,王铮（北京协和医学院）,黄尚志（北京协和医学院）
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 10:34:39.
• 【初稿】 肌阵挛性肌张力障碍
  Myoclonus-Dystonia
  Deborah Raymond and Laurie Ozelius.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-30 02:43:08.
• 【初稿】 肌原纤维肌病
  Myofibrillar Myopathy
  Duygu Selcen and Andrew G Engel.
  翻译者：丁灿
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-17 11:30:56.
• 【初稿】 先天性肌强直
  Myotonia Congenita
  Morten Dunø and Eskild Colding-Jørgensen.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-23 04:01:27.
• 【初稿】 Myotonic Dystrophy Type 1
  Myotonic Dystrophy Type 1
  Thomas D Bird.
  翻译者：王琳,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-03-19 04:30:40.
• 【初稿】 Myotonic Dystrophy Type 2
  Myotonic Dystrophy Type 2
  Joline C Dalton, Laura PW Ranum, and John W Day.
  翻译者：郑文英,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-03-19 05:41:02.
• 【初稿】 Mitochondrial DNA Maintenance Defects Overview
  Mitochondrial DNA Maintenance Defects Overview
  Ayman W El-Hattab, William J Craigen, Lee-Jun C Wong, and Fernando Scaglia.
  翻译者：李小敏
  Initial Posting: 2020-06-25 06:43:05; Last Update: 2020-12-08 08:55:54.
• 【初稿】 Mucopolysaccharidosis Type III
  Mucopolysaccharidosis Type III
  Victoria F Wagner and Hope Northrup.
  翻译者：王萍
  Initial Posting: 2020-06-25 06:44:39; Last Update: 2022-04-10 06:35:06.

• N

• 【初稿】 非综合征型视网膜色素变性概述
  Nonsyndromic Retinitis Pigmentosa Overview
  Agatino Battaglia.
  翻译者：黄辉
  Initial Posting: 2017-08-22 01:46:03; Last Update: 2017-08-22 01:46:03.
• 【初稿】 核基因缺陷性Leigh综合征概述
  Nuclear Gene-Encoded Leigh Syndrome Overview
  Shamima Rahman and David Thorburn.
  翻译者：李溪远
  Initial Posting: 2017-08-29 10:46:49; Last Update: 2017-08-29 10:55:39.
• 【初稿】 NDP-Related Retinopathies
  NDP-Related Retinopathies
  Katherine B Sims.
  翻译者：张彦，詹文丽
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-02-19 04:54:56.
• 【初稿】 肾单位肾痨/Nephronophthisis
  Nephronophthisis
  Marijn Stokman, Marc Lilien, and Nine Knoers.
  翻译者：李秀蓉,郭青,党西强
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-02-26 10:13:34.
• 【初稿】 神经纤维瘤1型
  Neurofibromatosis 1
  JM Friedman.
  翻译者：杨涛/黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-20 03:26:07.
• 【初稿】 神经纤维瘤2型
  Neurofibromatosis 2
  D Gareth Evans.
  翻译者：杨涛/黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-20 04:01:29.
• 【初稿】 Nevoid Basal Cell Carcinoma Syndrome
  Nevoid Basal Cell Carcinoma Syndrome
  D Gareth Evans and Peter A Farndon.
  翻译者：曾思聪
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-23 09:35:02.
• 【初稿】 Niemann-Pick Disease Type C
  Niemann-Pick Disease Type C
  Marc Patterson.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-07-10 06:08:07.
• 【初稿】 Nonsyndromic Hearing Loss and Deafness, DFNA3
  Nonsyndromic Hearing Loss and Deafness, DFNA3
  Richard JH Smith and Paul T Ranum.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-04-12 11:40:50.
• 【初稿】 非综合征型听力损失与耳聋，DFNB1型
  Nonsyndromic Hearing Loss and Deafness, DFNB1
  Richard JH Smith and Mary-Kayt N Jones.
  翻译者：沈珺
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 09:28:07.
• 【初稿】 Nonsyndromic Hearing Loss and Deafness, Mitochondrial
  Nonsyndromic Hearing Loss and Deafness, Mitochondrial
  Arti Pandya.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-04 10:44:53.
• 【初稿】 Noonan Syndrome
  Noonan Syndrome
  Judith E Allanson and Amy E Roberts.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 02:59:23.
• 【初稿】 Noonan Syndrome with Multiple Lentigines
  Noonan Syndrome with Multiple Lentigines
  Bruce D Gelb and Marco Tartaglia.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-06-30 11:25:35.

• O

• 【初稿】 X连锁眼白化病
  Ocular Albinism, X-Linked
  Richard Alan Lewis.
  翻译者：敖琴
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-27 11:27:11.
• 【初稿】 眼皮肤白化病1型
  Oculocutaneous Albinism Type 1
  Richard Alan Lewis.
  翻译者：张钏，闫有圣，黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-05 11:05:02.
• 【初稿】 眼皮肤白化病2型
  Oculocutaneous Albinism Type 2
  Richard Alan Lewis.
  翻译者：闫有圣，黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-02 03:09:15.
• 【初稿】 眼皮肤白化病4型
  Oculocutaneous Albinism Type 4
  Masahiro Hayashi and Tamio Suzuki.
  翻译者：闫有圣，黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 11:58:59.
• 【初稿】 Oculopharyngeal Muscular Dystrophy
  Oculopharyngeal Muscular Dystrophy
  Capucine Trollet, Teresa Gidaro, Pierre Klein, Sophie Périé, Gillian Butler-Browne, and Jean Lacau St Guily.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-07-16 05:04:09.
• 【初稿】 视神经萎缩1型
  Optic Atrophy Type 1
  Cécile Delettre-Cribaillet, Christian P Hamel, and Guy Lenaers.
  翻译者：马欣
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-09 10:09:09.
• 【初稿】 Oral-Facial-Digital Syndrome Type I / 口-面-指综合征I型
  Oral-Facial-Digital Syndrome Type I
  Helga V Toriello, Brunella Franco, Ange-Line Bruel, and Christel Thauvin-Robinet.
  翻译者：薛婧怡（日本横浜市立大学）,严莉（中日友好医院）,王铮（北京协和医学院）,黄尚志（北京协和医学院）
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 11:29:24.
• 【初稿】 鸟氨酸氨甲酰基转移酶缺乏症
  Ornithine Transcarbamylase Deficiency
  Uta Lichter-Konecki, Ljubica Caldovic, Hiroki Morizono, and Kara Simpson.
  翻译者：张大可
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-12-25 11:26:13.

• P

• 【初稿】 苯丙氨酸羟化酶缺乏症
  Phenylalanine Hydroxylase Deficiency
  Debra S Regier and Carol L Greene.
  翻译者：叶军
  Initial Posting: 2017-08-11 05:43:34; Last Update: 2017-08-11 05:49:00.
• 【初稿】 胰腺炎综述
  Pancreatitis Overview
  Jessica LaRusch, Sheila Solomon, and David C Whitcomb.
  翻译者：弓孟春,刘爽
  Initial Posting: 2017-08-29 10:50:38; Last Update: 2017-08-29 10:50:38.
• 【初稿】 PIK3CA Related Segmental Overgrowth
  PIK3CA-Related Segmental Overgrowth
  Ghayda Mirzaa, Robert Conway, John M Graham, Jr, and William B Dobyns.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-10-18 06:44:32.
• 【初稿】 PINK1型早发性帕金森病
  PINK1 Type of Young-Onset Parkinson Disease
  Susanne A Schneider and Christine Klein.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-10 10:00:26.
• 【初稿】 PLA2G6-Associated Neurodegeneration
  PLA2G6-Associated Neurodegeneration
  Allison Gregory, Manju A Kurian, Eamonn R Maher, Penelope Hogarth, and Susan J Hayflick.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-08-05 11:55:10.
• 【初稿】 PLP1-Related Disorders
  PLP1-Related Disorders
  Grace M Hobson and John Kamholz.
  翻译者：张丰丰,蔡淑英
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 11:04:58.
• 【初稿】 PMM2-CDG (CDG-Ia)
  PMM2-CDG (CDG-Ia)
  Susan E Sparks and Donna M Krasnewich.
  翻译者：肖红梅
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-30 09:45:32.
• 【初稿】 PNPLA6-Related Disorders
  PNPLA6-Related Disorders
  Matthis Synofzik, Robert B Hufnagel, and Stephan Züchner.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-10-18 06:31:54.
• 【初稿】 POLG-Related Disorders
  POLG-Related Disorders
  Bruce H Cohen, Patrick F Chinnery, and William C Copeland.
  翻译者：李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-13 01:00:42.
• 【初稿】 RNA 聚合酶III相关的白质营养不良（聚合酶III-相关的白质营养不良）
  POLR3-Related Leukodystrophy
  Geneviève Bernard and Adeline Vanderver.
  翻译者：谢久永，黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-09-05 05:52:59.
• 【初稿】 PROP1相关型联合性脑垂体激素缺乏症（初稿）
  PROP1-Related Combined Pituitary Hormone Deficiency
  Laura CG de Graaff.
  翻译者：刘玲，谢久永（加拿大曼大医学院），黄尚志（协和医学院）
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-09-06 11:01:57.
• 【初稿】 PRSS1 相关遗传性胰腺炎
  PRSS1-Related Hereditary Pancreatitis
  Sheila Solomon, David C Whitcomb, and Jessica LaRusch.
  翻译者：施小六,刘景鸿
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 04:44:49.
• 【初稿】 PTEN 错构瘤综合征
  PTEN Hamartoma Tumor Syndrome
  Charis Eng.
  翻译者：
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-09-19 01:41:00.
• 【初稿】 PURA-Related Neurodevelopmental Disorders
  PURA-Related Neurodevelopmental Disorders
  Margot RF Reijnders, Richard J Leventer, Bo Hoon Lee, Diana Baralle, Paulo Selber, Alex R Paciorkowski, and David Hunt.
  翻译者：李秀蓉
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-02-13 09:40:28.
• 【初稿】 Pachyonychia Congenita
  Pachyonychia Congenita
  Frances JD Smith, C David Hansen, Peter R Hull, Roger L Kaspar, WH Irwin McLean, Edel O’Toole, and Eli Sprecher.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-11-09 01:38:57.
• 【初稿】 Pallister-Hall Syndrome
  Pallister-Hall Syndrome
  Leslie G Biesecker.
  翻译者：肖红梅
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-22 05:34:11.
• 【初稿】 Pantothenate Kinase-Associated Neurodegeneration
  Pantothenate Kinase-Associated Neurodegeneration
  Allison Gregory and Susan J Hayflick.
  翻译者：王萍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-11-29 11:39:47.
• 【初稿】 Parkin型早发性帕金森病
  Parkin Type of Early-Onset Parkinson Disease
  Norbert Brüggemann and Christine Klein.
  翻译者：黄曜纬，胡亚芳
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 09:02:34.
• 【初稿】 Parkinson Disease Overview
  Parkinson Disease Overview
  Janice Farlow, Nathan D Pankratz, Joanne Wojcieszek, and Tatiana Foroud.
  翻译者：余乐
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-09-19 12:51:51.
• 【初稿】 Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
  Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct
  Richard JH Smith.
  翻译者：张彦，詹文丽
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-02-19 04:58:44.
• 【初稿】 永久性新生儿糖尿病
  Permanent Neonatal Diabetes Mellitus
  Diva D De León and Charles A Stanley.
  翻译者：孔晓牧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 07:56:17.
• 【初稿】 Perry Syndrome
  Perry Syndrome
  Zbigniew Wszolek and Takuya Konno.
  翻译者：肖红梅
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-22 08:02:11.
• 【初稿】 黑斑息肉综合征
  Peutz-Jeghers Syndrome
  Thomas J McGarrity, Christopher I Amos, and Maria J Baker.
  翻译者：施小六,吴博达
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-05 07:56:30.
• 【初稿】 Phelan-McDermid 综合征
  Phelan-McDermid Syndrome
  Katy Phelan and R Curtis Rogers.
  翻译者：孟亚仙
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:36:02.
• 【初稿】 Polycystic Kidney Disease, Autosomal Dominant
  Polycystic Kidney Disease, Autosomal Dominant
  Peter C Harris and Vicente E Torres.
  翻译者：朱丽芬,刘维强
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-23 08:16:48.
• 【初稿】 Polycystic Kidney Disease, Autosomal Recessive
  Polycystic Kidney Disease, Autosomal Recessive
  William E Sweeney and Ellis D Avner.
  翻译者：管红梅,李元帅,罗倩,骆玉梅
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-11-23 08:19:34.
• 【初稿】 庞贝病
  Pompe Disease
  Nancy Leslie and Laurie Bailey.
  翻译者：杨德壕,罗巍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-11-20 05:58:42.
• 【初稿】 Potocki-Lupski 综合征
  Potocki-Lupski Syndrome
  Lorraine Potocki, Juanita Neira-Fresneda, and Bo Yuan.
  翻译者：李海波
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-19 08:26:20.
• 【初稿】 Prader-Willi Syndrome
  Prader-Willi Syndrome
  Daniel J Driscoll, Jennifer L Miller, Stuart Schwartz, and Suzanne B Cassidy.
  翻译者：肖红梅
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-26 11:00:48.
• 【初稿】 Primary ciliary dyskinasia 原发性纤毛运动障碍
  Primary Ciliary Dyskinesia
  Maimoona A Zariwala, Michael R Knowles, and Margaret W Leigh.
  翻译者：刘雅萍,黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-25 12:34:51.
• 【初稿】 先天性青光眼
  Primary Congenital Glaucoma
  Khaled K Abu-Amero and Deepak P Edward.
  翻译者：马欣
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-03 09:36:18.
• 【初稿】 Primary Familial and Congenital Polycythemia
  Primary Familial and Congenital Polycythemia
  Celeste Bento, Mary Frances McMullin, Melanie Percy, and Holger Cario.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-02-22 08:24:37.
• 【初稿】 原发性家族性脑钙化
  Primary Familial Brain Calcification
  Eliana Marisa Ramos, Joao Oliveira, Maria J Sobrido, and Giovanni Coppola.
  翻译者：陈思,罗巍
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-04 06:57:24.
• 【初稿】 进行性肌阵挛性癫痫，Lafora病
  Progressive Myoclonus Epilepsy, Lafora Type
  Anna C Jansen and Eva Andermann.
  翻译者：王佳，王小冬
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 01:38:21.
• 【初稿】 Progressive Pseudorheumatoid Dysplasia
  Progressive Pseudorheumatoid Dysplasia
  Gandham SriLakshmi Bhavani, Hitesh Shah, Anju Shukla, Ashwin Dalal, and Katta Mohan Girisha.
  翻译者：庄丹燕,李海波
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-04-19 12:28:39.
• 【初稿】 阿黑皮素原缺乏症（Proopiomelanocortin Deficiency）
  Proopiomelanocortin Deficiency
  Ben G Challis and George WM Millington.
  翻译者：黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-04 11:39:37.
• 【初稿】 Propionic Acidemia
  Propionic Acidemia
  Oleg A Shchelochkov, Nuria Carrillo, and Charles Venditti.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-06-01 04:39:05.
• 【初稿】 假性软骨发育不良
  Pseudoachondroplasia
  Michael D Briggs and Michael J Wright.
  翻译者：鲁艳芹
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-10-03 08:00:54.
• 【初稿】 Pulmonary Fibrosis, Familial
  Pulmonary Fibrosis, Familial
  Janet L Talbert and David A Schwartz.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-12-17 09:08:09.
• 【初稿】 Poikiloderma with Neutropenia
  Poikiloderma with Neutropenia
  Lisa Wang, Carol Clericuzio, and Lidia Larizza.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 10:48:44; Last Update: 2020-02-14 10:59:04.
• 【初稿】 PPP2R5D-Related Neurodevelopmental Disorder
  PPP2R5D-Related Neurodevelopmental Disorder
  Ghayda Mirzaa, Kimberly Foss, Mary Nattakom, and Wendy K Chung.
  翻译者：闫露露
  Initial Posting: 2020-06-25 06:57:37; Last Update: 2021-05-24 02:56:50.
• 【初稿】 Pelizaeus-Merzbacher-Like Disease 1
  Pelizaeus-Merzbacher-Like Disease 1
  Norah Nahhas, Alex Conant, Jennifer Orthmann-Murphy, Adeline Vanderver, and Grace Hobson.
  翻译者：王静敏
  Initial Posting: 2020-06-25 07:00:03; Last Update: 2021-11-18 10:10:20.

• R

• 【初稿】 Retinoblastoma
  Retinoblastoma
  Dietmar R Lohmann and Brenda L Gallie.
  翻译者：林伟胜,熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 01:42:48.
• 【初稿】 Russell-Silver Syndrome
  Russell-Silver Syndrome
  Howard M Saal.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-11-05 08:34:16.
• 【初稿】 Rhabdoid Tumor Predisposition Syndrome
  Rhabdoid Tumor Predisposition Syndrome
  Karolina Nemes, Susanne Bens, Franck Bourdeaut, Martin Hasselblatt, Marcel Kool, Pascal Johann, Uwe Kordes, Reinhard Schneppenheim, Reiner Siebert, and Michael C Frühwald.
  翻译者：王萍,金润铭
  Initial Posting: 2020-01-14 12:21:13; Last Update: 2020-06-19 01:23:18.
• 【初稿】 RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
  RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy
  Daniel L Chao, Amanda Burr, and Mark Pennesi.
  翻译者：孙君慧,祁鸣
  Initial Posting: 2020-06-25 07:08:58; Last Update: 2021-02-08 10:18:37.
• 【初稿】 RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
  RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies
  Natalie Deuitch, Elizabeth Broadbridge, Lea Cunningham, and Paul Liu.
  翻译者：王萍
  Initial Posting: 2021-05-20 05:53:21; Last Update: 2022-03-16 05:10:51.

• S

• 【初稿】 脊髓小脑共济失调3型
  Spinocerebellar Ataxia Type 3
  Henry Paulson.
  翻译者：孔梓任,顾卫红
  Initial Posting: 2017-08-22 05:19:55; Last Update: 2017-08-22 05:19:55.
• 【初稿】 Spinal Muscular Atrophy脊髓性肌萎缩症
  Spinal Muscular Atrophy
  Thomas W Prior and Erika Finanger.
  翻译者：曹延延,宋昉
  Initial Posting: 2017-08-22 05:30:28; Last Update: 2017-08-22 05:30:28.
• 【初稿】 SCN1A-Related Seizure Disorders
  SCN1A-Related Seizure Disorders
  Ian O Miller and Marcio A Sotero de Menezes.
  翻译者：张丰丰
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-07-31 03:54:54.
• 【初稿】 SHOX 缺陷疾病
  SHOX Deficiency Disorders
  Gerhard Binder and Gudrun A Rappold.
  翻译者：孟亚仙
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-13 10:18:48.
• 【初稿】 Short-Chain Acyl-CoA Dehydrogenase Deficiency
  Short-Chain Acyl-CoA Dehydrogenase Deficiency
  Lynne Wolfe, Reena Jethva, Devin Oglesbee, and Jerry Vockley.
  翻译者：
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2022-01-27 03:58:46.
• 【初稿】 Shwachman-Diamond Syndrome
  Shwachman-Diamond Syndrome
  Kasiani Myers.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-30 02:04:23.
• 【初稿】 镰刀形细胞病
  Sickle Cell Disease
  MA Bender.
  翻译者：罗千惠，易彦，施小六
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-19 05:04:09.
• 【初稿】 Sitosterolemia
  Sitosterolemia
  Louise S Merkens, Semone B Myrie, Robert D Steiner, and David Mymin.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-06-01 10:23:13.
• 【初稿】 Smith-Lemli-Opitz Syndrome
  Smith-Lemli-Opitz Syndrome
  Malgorzata JM Nowaczyk.
  翻译者：王青青,侯巧芳,廖世秀
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-02-20 09:44:29.
• 【初稿】 Smith-Magenis 综合征
  Smith-Magenis Syndrome
  Ann CM Smith, Kerry E Boyd, Sarah H Elsea, Brenda M Finucane, Barbara Haas-Givler, Andrea Gropman, Gonzalo Laje, Ellen Magenis, and Lorraine Potocki.
  翻译者：苏家荪,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 09:30:30.
• 【初稿】 Sotos 综合征（小儿巨脑畸形综合征）
  Sotos Syndrome
  Katrina Tatton-Brown, Trevor RP Cole, and Nazneen Rahman.
  翻译者：左扬瑾,沈亦平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 09:31:04.
• 【初稿】 痉挛性截瘫3A
  Spastic Paraplegia 3A
  Peter Hedera.
  翻译者：符胜煜,许雪青,黄治中
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-20 08:14:08.
• 【初稿】 痉挛性截瘫4
  Spastic Paraplegia 4
  Alexandra Dürr, Chantal Tallaksen, and Christel Depienne.
  翻译者：谢淑萍,罗芬,许雪青
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-08-14 11:56:11.
• 【初稿】 遗传性痉挛性截瘫7
  Spastic Paraplegia 7
  Giorgio Casari and Roberto Marconi.
  翻译者：夏勇,雷佳凡,许雪青
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-20 08:21:04.
• 【初稿】 痉挛性截瘫8
  Spastic Paraplegia 8
  Paul N Valdmanis, Inge A Meijer, and Guy A Rouleau.
  翻译者：卓宝文,许雪青
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-26 08:11:44.
• 【初稿】 痉挛性截瘫11
  Spastic Paraplegia 11
  Giovanni Stevanin, Alexandra Dürr, and Alexis Brice.
  翻译者：谢淑萍,符胜煜,许雪青
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-04-23 08:29:12.
• 【初稿】 Spinal Muscular Atrophy, X-Linked Infantile
  Spinal Muscular Atrophy, X-Linked Infantile
  Lisa Baumbach-Reardon, Stephanie J Sacharow, and Mary Ellen Ahearn.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-05-31 05:50:41.
• 【初稿】 脊髓小脑性共济失调2型
  Spinocerebellar Ataxia Type 2
  Stefan M Pulst.
  翻译者：彭桂兰,陈毅星
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-08 11:24:04.
• 【初稿】 脊髓小脑性共济失调6型
  Spinocerebellar Ataxia Type 6
  Christopher M Gomez.
  翻译者：张丰丰,蔡淑英
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 11:39:14.
• 【初稿】 脊髓小脑性共济失调7型
  Spinocerebellar Ataxia Type 7
  Gwenn Garden.
  翻译者：彭桂兰,陈毅星
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-08 11:19:16.
• 【初稿】 脊髓小脑性共济失调第8亚型
  Spinocerebellar Ataxia Type 8
  Fatma Ayhan, Yoshio Ikeda, Joline C Dalton, John W Day, and Laura PW Ranum.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-23 03:47:43.
• 【初稿】 脊髓小脑性共济失调12型
  Spinocerebellar Ataxia Type 12
  Russell L Margolis, Susan E Holmes, Achal K Srivastava, Mitali Mukherji, and KK Sinha.
  翻译者：张丰丰,蔡淑英
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-16 11:17:17.
• 【初稿】 脊髓小脑性共济失调15型
  Spinocerebellar Ataxia Type 15
  Elsdon Storey.
  翻译者：王丽
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-25 09:51:23.
• 【初稿】 脊髓小脑性共济失调36型
  Spinocerebellar Ataxia Type 36
  Manuel Arias, Beatriz Quintáns, María García-Murias, and Maria J Sobrido.
  翻译者：彭桂兰,陈毅星
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-08 11:21:40.
• 【初稿】 Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
  Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive
  Hok Khim Fam, Mustafa AM Salih, Hiroshi Takashima, and Cornelius F Boerkoel.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-05-28 11:00:23.
• 【初稿】 Stickler 综合征
  Stickler Syndrome
  Nathaniel H Robin, Rocio T Moran, and Leena Ala-Kokko.
  翻译者：施小六,谭明亮
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-11-25 09:40:56.
• 【初稿】 Systemic Primary Carnitine Deficiency
  Systemic Primary Carnitine Deficiency
  Ayman W El-Hattab.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-10-22 04:19:29.
• 【初稿】 SATB2-相关综合征
  SATB2-Associated Syndrome
  Yuri A Zarate, Julie Kaylor, and Jennifer Fish.
  翻译者：尹冬冬
  Initial Posting: 2017-12-02 10:59:58; Last Update: 2020-09-15 01:55:17.
• 【初稿】 SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
  SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
  Ayman W El-Hattab and Fernando Scaglia.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:02:18; Last Update: 2021-04-12 04:18:37.
• 【初稿】 SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
  SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
  Ayman W El-Hattab and Fernando Scaglia.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:02:29; Last Update: 2021-04-01 11:43:42.
• 【初稿】 SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
  SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
  Amy McTague and Manju A Kurian.
  翻译者：王萍
  Initial Posting: 2020-06-25 07:13:11; Last Update: 2022-11-10 11:31:38.
• 【初稿】 STAC3 Disorder
  STAC3 Disorder
  Bryn D Webb, Irini Manoli, and Ethylin Wang Jabs.
  翻译者：王萍
  Initial Posting: 2020-06-25 07:14:01; Last Update: 2022-09-21 11:27:53.
• 【初稿】 SYNGAP1-相关智力障碍
  SYNGAP1-Related Intellectual Disability
  J Lloyd Holder, Jr, Fadi F Hamdan, and Jacques L Michaud.
  翻译者：田杨,马杰妮
  Initial Posting: 2020-06-25 07:14:57; Last Update: 2020-12-31 08:56:22.
• 【初稿】 Saul-Wilson Syndrome
  Saul-Wilson Syndrome
  Carlos Ferreira.
  翻译者：王萍
  Initial Posting: 2020-06-25 07:15:37; Last Update: 2022-12-02 09:52:07.

• T

• 【初稿】 Timothy综合征
  Timothy Syndrome
  Carlo Napolitano, Igor Splawski, Katherine W Timothy, Raffaella Bloise, and Silvia G Priori.
  翻译者：高元丰,李翠兰
  Initial Posting: 2017-08-22 05:31:35; Last Update: 2017-08-22 05:31:35.
• 【初稿】 TARDBP 相关的肌萎缩侧索硬化症
  TARDBP-Related Amyotrophic Lateral Sclerosis
  Matthew M Harms, Timothy M Miller, and Robert H Baloh.
  翻译者：华西-商慧芳
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-05-23 03:35:38.
• 【初稿】 TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
  TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form
  Sirisak Chanprasert, Lee-Jun C Wong, Jing Wang, and Fernando Scaglia.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-03-10 12:27:26.
• 【初稿】 TRIO-Related Intellectual Disability
  TRIO-Related Intellectual Disability
  Konstantinos Varvagiannis, Lisenka ELM Vissers, Diana Baralle, and Bert BA de Vries.
  翻译者：郭田田
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-03-19 10:38:19.
• 【初稿】 TUBB4A相关性脑白质营养不良
  TUBB4A-Related Leukodystrophy
  Norah Nahhas, Alex Conant, Eline Hamilton, Julian Curiel, Cas Simons, Marjo van der Knaap, and Adeline Vanderver.
  翻译者：延会芳,王静敏
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-10-30 07:04:29.
• 【初稿】 Tuberous Sclerosis Complex
  Tuberous Sclerosis Complex
  Hope Northrup, Mary Kay Koenig, Deborah A Pearson, and Kit-Sing Au.
  翻译者：王萍,金润铭
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-08-21 05:06:48.
• 【初稿】 酪氨酸羟化酶缺陷
  Tyrosine Hydroxylase Deficiency
  Yoshiaki Furukawa and Stephen Kish.
  翻译者：谢久永，黄尚志
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-10-31 03:41:04.
• 【初稿】 酪氨酸血症 I 型
  Tyrosinemia Type I
  Lisa Sniderman King, Cristine Trahms, and C Ronald Scott.
  翻译者：叶军
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2017-12-04 07:15:56.
• 【初稿】 致死性骨发育不全
  Thanatophoric Dysplasia
  Barbara Karczeski and Garry R Cutting.
  翻译者：郭奕斌
  Initial Posting: 2017-12-02 11:15:46; Last Update: .

• U

• 【初稿】 Usher综合征1型
  Usher Syndrome Type I
  Jennifer Lentz and Bronya JB Keats.
  翻译者：卢宇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-01-13 06:37:32.
• 【初稿】 Usher综合征2型
  Usher Syndrome Type II
  Jennifer Lentz and Bronya Keats.
  翻译者：卢宇
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2021-01-13 06:38:03.

• V

• 【初稿】 VCAN-Related Vitreoretinopathy
  VCAN-Related Vitreoretinopathy
  Barbara Kloeckener-Gruissem and Christoph Amstutz.
  翻译者：熊慧
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2020-03-19 02:01:39.
• 【初稿】 VPS35-相关的帕金森病
  VPS35-Related Parkinson Disease
  Angela Deutschländer, Owen A Ross, and Zbigniew K Wszolek.
  翻译者：陈映丽，胡亚芳
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2018-03-05 09:59:55.
• 【初稿】 Variegate Porphyria
  Variegate Porphyria
  Ashwani K Singal and Karl E Anderson.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:20:58; Last Update: 2020-12-08 08:30:31.
• 【初稿】 血管性Ehlers-Danlos综合征
  Vascular Ehlers-Danlos Syndrome
  Melanie G Pepin, Mitzi L Murray, and Peter H Byers.
  翻译者：殷昆仑，扶媛媛
  Initial Posting: 2017-12-02 11:21:19; Last Update: 2018-04-28 02:19:56.
• 【初稿】 Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
  Nancy D Leslie, C Alexander Valencia, Arnold W Strauss, Jessica A Connor, and Kejian Zhang.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:21:30; Last Update: 2019-07-19 03:40:56.
• 【初稿】 血管性血友病
  von Willebrand Disease
  Anne Goodeve and Paula James.
  翻译者：
  Initial Posting: 2017-12-02 11:21:59; Last Update: 2018-11-08 11:23:11.

• W

• 【初稿】 WAS-相关疾病
  WAS-Related Disorders
  Sharat Chandra, Lucas Bronicki, Chinmayee B Nagaraj, and Kejian Zhang.
  翻译者：齐一鸣,丁红珂
  Initial Posting: 2017-12-02 11:22:47; Last Update: .
• 【初稿】 WFS1相关疾病
  WFS1-Related Disorders
  Lisbeth Tranebjærg, Timothy Barrett, and Nanna Dahl Rendtorff.
  翻译者：彭婉,卢宇
  Initial Posting: 2017-12-02 11:23:00; Last Update: 2022-02-20 11:11:44.
• 【初稿】 瓦登伯格综合征1型
  Waardenburg Syndrome Type I
  Jeff Mark Milunsky.
  翻译者：李川,沈亦平
  Initial Posting: 2017-12-02 11:23:19; Last Update: .
• 【初稿】 Werner Syndrome
  Werner Syndrome
  Junko Oshima, George M Martin, and Fuki M Hisama.
  翻译者：黄伟伟,孙晓晓,刘晓敏
  Initial Posting: 2017-12-02 11:23:40; Last Update: 2021-09-29 09:16:33.
• 【初稿】 威廉斯综合征
  Williams Syndrome
  Colleen A Morris.
  翻译者：李薇,沈亦平
  Initial Posting: 2017-12-02 11:23:52; Last Update: .
• 【初稿】 Wilms肿瘤易感性
  Wilms Tumor Predisposition
  Jeffrey S Dome and Vicki Huff.
  翻译者：谢久永，黄尚志
  Initial Posting: 2017-12-02 11:24:24; Last Update: .
• 【初稿】 Wilson Disease
  Wilson Disease
  Karl Heinz Weiss.
  翻译者：熊慧
  Initial Posting: 2017-12-02 11:24:37; Last Update: 2018-10-07 11:16:53.
• 【初稿】 Wolf-Hirschhorn Syndrome
  Wolf-Hirschhorn Syndrome
  Agatino Battaglia, John C Carey, and Sarah T South.
  翻译者：容秀良,沈亦平
  Initial Posting: 2017-12-02 11:24:49; Last Update: .
• 【初稿】 WDR26相关型智力残疾
  WDR26-Related Intellectual Disability
  Cara M Skraban, Katheryn L Grand, and Matthew A Deardorff.
  翻译者：肖红梅
  Initial Posting: 2020-06-25 07:32:28; Last Update: 2021-05-14 03:34:04.

• X

• 【初稿】 X-连锁先天性肾上腺发育不全
  X-Linked Adrenal Hypoplasia Congenita
  John C Achermann and Eric J Vilain.
  翻译者：谢久永 （U. of Manitoba, Canada）黄尚志(协和医学院）
  Initial Posting: 2017-12-02 11:25:24; Last Update: 2018-03-14 11:10:32.
• 【初稿】 X-Linked Adrenoleukodystrophy
  X-Linked Adrenoleukodystrophy
  Steven J Steinberg, Ann B Moser, and Gerald V Raymond.
  翻译者：王萍
  Initial Posting: 2017-12-02 11:25:35; Last Update: 2022-06-30 02:54:46.
• 【初稿】 X-Linked Agammaglobulinemia
  X-Linked Agammaglobulinemia
  CI Edvard Smith and Anna Berglöf.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:25:45; Last Update: 2020-05-13 09:40:06.
• 【初稿】 X-Linked Congenital Stationary Night BlindnessX连锁先天性静止性夜盲
  X-Linked Congenital Stationary Night Blindness
  Kym M Boycott, Yves Sauvé, and Ian M MacDonald.
  翻译者：熊慧
  Initial Posting: 2017-12-02 11:26:09; Last Update: 2019-03-10 01:47:06.
• 【初稿】 X-连锁肌张力障碍-帕金森症
  X-Linked Dystonia-Parkinsonism
  Virgilio Gerald H Evidente.
  翻译者：商慧芳,陈永平
  Initial Posting: 2017-12-02 11:26:24; Last Update: 2018-05-23 03:21:13.
• 【初稿】 X-Linked Hyper IgM Syndrome
  X-Linked Hyper IgM Syndrome
  Judith Johnson, Alexandra H Filipovich, and Kejian Zhang.
  翻译者：肖红梅
  Initial Posting: 2017-12-02 11:26:34; Last Update: 2018-10-22 08:58:07.
• 【初稿】 X-Linked Juvenile Retinoschisis
  X-Linked Juvenile Retinoschisis
  Paul A Sieving, Ian M MacDonald, and Stephanie Chan.
  翻译者：王兆坤,廖世秀
  Initial Posting: 2017-12-02 11:27:00; Last Update: 2019-02-24 10:47:44.
• 【初稿】 X-Linked Protoporphyria
  X-Linked Protoporphyria
  Manisha Balwani, Joseph Bloomer, Robert Desnick; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:27:41; Last Update: 2020-09-01 05:12:09.
• 【初稿】 X连锁重症联合免疫缺陷病
  X-Linked Severe Combined Immunodeficiency
  Eric Allenspach, David J Rawlings, and Andrew M Scharenberg.
  翻译者：李秀蓉
  Initial Posting: 2017-12-02 11:27:52; Last Update: 2018-05-21 07:09:31.
• 【初稿】 X连锁铁粒幼细胞性贫血伴共济失调
  X-Linked Sideroblastic Anemia and Ataxia
  Soumeya Bekri, Marc D'Hooghe, and Pieter Vermeersch.
  翻译者：易彦,施小六
  Initial Posting: 2017-12-02 11:28:02; Last Update: 2018-03-19 05:29:30.
• 【初稿】 X连锁迟发性脊柱骨骺发育不良
  X-Linked Spondyloepiphyseal Dysplasia Tarda
  George E Tiller and Vickie L Hannig.
  翻译者：郭奕斌,谢杰
  Initial Posting: 2017-12-02 11:28:21; Last Update: 2018-07-10 04:31:45.
• 【初稿】 Int22h1/Int22h2介导的Xq28重复综合征
  Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
  Ayman W El-Hattab, Christian P Schaaf, and Sau Wai Cheung.
  翻译者：周祎,林少宾
  Initial Posting: 2017-12-02 11:28:58; Last Update: 2018-07-19 09:03:19.

• Y

• 【初稿】 Y染色体不育
  Y Chromosome Infertility
  Sherman J Silber and Christine M Disteche.
  翻译者：丰岱荣 (潍坊医学院), 黄尚志 (北京协和医学院)
  Initial Posting: 2017-12-02 11:29:16; Last Update: 2018-03-27 08:20:38.

• Z

• 【初稿】 Zellweger Spectrum Disorder
  Zellweger Spectrum Disorder
  Steven J Steinberg, Gerald V Raymond, Nancy E Braverman, and Ann B Moser.
  翻译者：陈婷
  Initial Posting: 2017-09-01 11:51:55; Last Update: 2019-01-09 05:58:15.
• 【初稿】 ZAP70-Related Combined Immunodeficiency
  ZAP70-Related Combined Immunodeficiency
  Kelly Walkovich and Mark Vander Lugt.
  翻译者：王萍,金润铭
  Initial Posting: 2017-12-02 11:29:42; Last Update: 2020-02-04 09:16:02.