中国罕见病参考名录列表

名称
1 苯丙酮尿症Phenylk etonuria (PKU)
2 肝豆状核变性Wilson disease (WD)
3 杜氏肌营养不良症Duchen ne muscula r dystroph y (DMD)
4 糖原累积病Glycoge n storage disease (GSD)
5 粘多糖贮积症Mucopol ysaccha ridosis (MPS)
Fanconi anemia (FA)
7 血友病Hemoph ilia
8 戈谢病Gaucher disease (GD)
9 先天性肾上腺皮质增生症Congeni tal adrenal hyperpla sia (CAH) 10 原发性肉碱缺乏症Primary carnitine deficien cy (PCD)
血症Methylm
alonic academi
a (MA)
12 大疱性表皮松解症Epiderm olysisbul losa (EB)
13 遗传性进行性肾炎（Alport 综合征）Alport syndrom e14 马凡综合征Marfan syndrom
e
15 亨廷顿舞蹈症Huntingt on?dise ase (HD)
缩症Spinal
muscula
r
atrophy
(SMA) 17 半乳糖血症Galacto
semia 18 脊髓小脑性共济失调Spinoce rebellar ataxia (SCA) 19 先天性高胰岛素性低血糖血症Familial hyperins ulinemic hypogly cemia (HHF)
（脆骨病）Osteoge
nesisim perfecta
(OI)
21 常染色体隐性多囊肾病Autoso mal recessiv e polycysti c kidney disease (ARPKD )
22 软骨发育不全Achondr oplasia 23 脊髓延髓肌肉萎缩症
(肯尼迪氏症) Spinal and bulbar muscula r atrophy (Kenned y disease) 24 枫糖尿症Maple syrup urine disease (MSUD) 25 尿素循环障碍 Urea cycle disorder 26 湿疹血小板减少伴免疫缺陷综合征Wiskott-Aldrich syndrom e (WAS)
27 白化病Albinism 28 结节性硬化症Tuberou
s sclerosi s complex
(TSC) 29 法布
雷病Fabry disease 30 雷特综合征Rett syndrom e
31 普拉德-威利综合征（小胖威利综合征）Prader-Willi syndrom e (PWS)
32 威廉姆斯综合征Williams syndrom
e (WS)
33 小儿X连锁无丙种球蛋白血症X-linked agamm aglobuli nemia (XLA) 34 神经纤维瘤Neurofib romatosi s (NF) 35 异戊酸血症Isovaleri cacidem ia (IVA) 36 β-酮硫解酶缺乏症Beta-ketothiol ase deficien cy
37 阵发性睡眠性血红蛋白尿症Paroxys
mal nocturn al hemoglo binuria 38 肢带型肌营养不良Limb-girdle muscula r dystroph y (LGMD) 39 尼曼-匹克氏病Nieman n-Pick disease
(NPD) 40 戊二酸血症Glutaric academi a (GA)
41 重症联合免疫缺陷Severe
combine d immuno deficien cy
(SCID) 42 酪氨
酸血症Tyrosine mia
43 多发性硬化Multiple Sclerosi
s (MS) 44 脂肪酸氧化作用缺陷 Fatty acid oxidatio
n defect 45 家族
性痉挛性截瘫Heredita ry spastic paraple gia (HSP)
46 X连锁肾上腺脑白质营养不良 X-linked adrenol eukodys trophy (XLD) 47 努南综合征Noonan syndrom
e (NS)
48 瓜氨酸血症Citrullin emia
49 中链酰基辅酶A脱氢酶缺乏症Medium chain acyl-CoA dehydro genase deficien cy (MCAD
脉高压
Primary Pulmon ary Hyperte nsion (PPH) 51 肌萎缩侧索硬化症
Amyotro phic lateral sclerosi s (ALS) 52 视网膜色素变性症Retinitis pigment osa
(RP)
53 佩梅病Pelizaeu s-Merzbac her disease (PMD)
症Charcot-Marie-Tooth disease (CMT) 55 白塞
病Beh?et disease 56 克罗恩病Crohn's disease 57 热纳综合征Asphyxi ating Thoracic Dystrop hy (Jeune syndrom e)
58 淋巴管肌瘤病Lympha ngioleio myomat osis (LAM)
59 肢端肥大症Acrome galy
60 早发性帕金森病Early-onset Parkins on disease 61 多发性骨髓瘤Multiple myelom a62 掌跖角化症Palmopl antarker atoderm a63 生物素酶缺乏症Biotinida se deficien cy
64 原发性慢性肉芽肿病Chronic
primary granulo matous disease 65 先天性角化不良Dyskera tosiscon genita 66 丙酸血症Propioni c academi
a
67 四氢生物蝶呤缺乏症Tetrahy drobiopt erin deficien cy
68 X-连锁高IgM 综合症X-linked hyper IgM syndrom e
69 低碱性磷酸酯酶血症Hypoph osphata sia
70 脆性X染色体综合征Fragile X syndrom e (FX) 71 Leber遗传性视神经病变 Leber heredita ry optic neuropa thy (LHON)
72 地中海贫血Thalass
emia 73 卡尔曼综合征Kallman n syndrom e
74 天使综合征Angelm an syndrom
e (AS)
75 视网膜母细胞瘤Retinobl astoma
76 线粒体脑肌病伴高乳酸血症和脑卒中样发作(MELAS 综合征) Mitocho
ndrial encepha lopathy, lactic acidosis , and stroke-
like
77 先天性红细胞生成障碍性贫血Congeni tal dyseryth ropoietic anemia (CDA) 78 生长激素缺乏症Growth hormon e deficien
79 婴儿严重肌阵挛性癫痫(Dravet 综合征) Dravet syndrom e
80 永久性新生兒糖尿病Perman ent Neonata l Diabete s
81 体质性肝功能不良性黄疸(Gilbert 综合征）Gilbert's syndrom
e (GS)
82 季肋发育不全Hypoch ondropl
83 非典型溶血性尿毒症综合征Atypical hemolyti c-uremic syndrom e (aHUS) 84 朗格汉斯细胞组织细胞增生症Pulmon ary Langerh ans cell histiocyt osis (PLCH) 85 烟雾病Moyamo ya disease 86 家族性低血钾症Familial Hypokal emia
87 林岛综合征（VHL 综合征）Von Hippel–Lindau disease (VHL syndrom 88 硬皮病Sclerod erma 89 红细胞增多症Erythocy tosis
90 先天性肌无力综合征Congeni tal Myasthe nic Syndro mes
91 视神经脊髓炎Neurom yelitisop tica (NMO)
92 遗传性血管性水肿Heredita
ry angioed ema (HAE) 93 全羧化酶合成酶缺乏症Holocar boxylas esynthet ase deficien cy94 低磷性佝偻病Hypoph osphate mic
rickets 95 侏儒综合征Laron syndrom e
96 溶酶体酸性脂肪酶缺乏症Lysoso
mal acid lipase deficien cy
97 重症先天性粒细胞缺乏症Severe congenit al neutrop
enia
98 卟啉病Porphyri a
99 Aicardi-Goutières综合症Aicardi-Goutières syndrom e （AGS
发育不良综合征Alagille
syndrom e
101 轴前肢端骨发育不全Nagerac rofaciald ysostosi s (Preaxia lacrodys
ostosis) 102 多发性骨骺发育不良Multiple epiphys eal dysplasi a
103 进行性骨化性肌炎Myositis ossifica nsprogr essiva (MOP)
症Incontin entiapig menti 105 遗
传性果糖不耐受症Heredita ry fructose intoleran ce
106 无脑回畸形Lissenc ephaly 107 竹节状毛发综合征（Nethe rton综合征）Netherto n syndrom e
血性毛细血管扩张症Heriditar
y hemorrh agic telangie
ctasia 109
Rubinst ein-Taybi综合征Rubinst ein-Taybi syndrom e110 隐眼-并指(趾)综合征Cryptop hthalmo s-syndact ylysyndr om
综合症
(Turner-Kieser综合征)
Nail-patella syndrom e (Turner-Kieser syndrom 112 谷固醇血症Sitoster
olemia 113 自身免疫性肠病第I型Immune dysregul ation-polyend ocrinopa thy-enterop athy-X-linked syndrom e （IPEX
素E综合征
（巴特综合征）Hyperpr
ostaglan din E syndrom e (Bartter
syndrom 115 先天性Cajal氏间质细胞增生合并肠道神经元发育异常Congeni tal Interstiti al Cell of Cajal Hyperpl asia with Neurona
116 先天性胆酸合成障碍Inborn errors of bile acid synthesi s
117 弗里曼-谢尔登氏综合征Freema n-Sheldon syndrom e (FSS) 118 躯干发育异常Campo melic dysplasi a （CD）119 Lennox-Gastaut 综合征Lennox-Gastaut syndrom e (LGS)
120 神经病-共济失调-色素性视网膜炎综合征Neuropa
thy -ataxia, and retinitis pigment osa (NARP
syndrom 121 肌
强直性营养不良Myotoni c dystroph y (MD) 122 面肩胛肱型肌营养不良症Faciosc apulohu meral muscula r dystroph
123 共济失调-毛细血管扩张症Ataxia-
telangie ctasia (AT) 124 低血钾型周期性麻痹Hypokal emic periodic paralysi
s
125 线粒体肌病Nemalin e myopath
y
126 再生障碍性贫血Aregene rative anemia 127 高苯丙氨酸血症Hyperph enylalan inemia
征Turner syndrom e
129 X联锁鱼鳞病Recessi ve X-linked ichthyos is
130 镰刀型细胞贫血病Sickle cell disease 131 骨髓增生异常综合征Myelody splastic syndrom es (MDS) 132 歌舞伎面谱综合征Kabuki syndrom e
发育不全Pseudo achondr oplasia 134 进行性家族性肝内胆汁淤积症Progres sive familial intrahep atic cholesta 135 新生儿呼吸窘迫综合征Neonata l respirat ory distress syndrom 136 囊性纤维化Cystic fibrosis (CF)
137 遗传性多发脑梗死性痴呆Heredita ry multi-infarct dementi a (Cerebr al autosom al dominan t arteriop athy 138 Gitelma n综合征Gitelma n syndrom e139 Joubert 综合征Joubert syndrom e
140 McCune -Albright 综合征
McCune -Albright syndrom e (MAS) 141 家族性高胆固醇血症Familial hyperch ylomicro nemia （FH）142 黑斑息肉综合征Peutz-Jeghers syndrom e (PJS) 143 黑斑息肉综合征Peutz一Jeghers syndrom e (PJS)
143 庞贝氏症Pompe disease 144 腹膜假黏液瘤Pseudo myxoma ?periton e (PMP) 145 克氏综合症Klinefelt er syndrom e146 重症肌无力Myasthe nia gravis (MG) 147 猫叫综合征（5P-综合征） cri-du-chat syndrom e (5p-syndrom e)。