China National Rare Disease Catalog to ORPHAcode mapping
China's rare disease policy documents are indexed by catalog number and Chinese disease name. Global research, drug and trial data are indexed by ORPHA, MONDO and OMIM identifiers. This table connects the two for all 207 diseases in the First (2018) and Second (2023) National Rare Disease Catalogs.
207catalog diseases
197mapped
10awaiting expert review
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- Catalog to ORPHAcode mapping (TSV) cn_catalog_to_orpha.tsv · 41 KB
- Catalog with mappings (JSON) cn_catalog.json · 93 KB
- Clinical trials per catalog disease (JSON) cn_catalog_trials.json · 3.3 MB
Released under CC BY 4.0. Suggested citation: RareSeen (rareseen.org). China National Rare Disease Catalog to ORPHAcode mapping. Accessed 2026-10-05. Files are regenerated on every weekly build; the mapping itself changes only when a curation decision changes.
About "awaiting expert review". These entries have no corresponding concept in Orphanet. For example, congenital scoliosis and persistent pulmonary hypertension of the newborn cannot be found in Orphanet at all. Marking them as unresolved, rather than forcing a near match, is what makes the table usable.
One entry deserves separate mention: multiple sclerosis (first batch, no. 76) is flagged in Orphanet as not rare in Europe, while it is in China's catalog. Whether a disease counts as rare depends on the region.
Column notes. NRDL drugs: number of drugs in China's National Reimbursement Drug List (NRDL) that name the disease. EU / US: drugs approved for the disease by the EMA or the FDA, or the number in development when none is approved. Trials in China: trials on ClinicalTrials.gov with a study site in mainland China, counted by exact disease name. Links in the mapping column open the disease page, which is in Chinese. Curation notes for manually decided entries are in Chinese and are included in the TSV.
| No. | Catalog name | ORPHA mapping | NRDL drugs | EU / US | Trials in China | Basis |
|---|---|---|---|---|---|---|
| 1-1 | 21-Hydroxylase Deficiency 21-羟化酶缺乏症 | Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ORPHA:90794 | — | 1 in dev. | 0 recruiting 8 in total | curated |
| 1-2 | Albinism 白化病 | Oculocutaneous or ocular albinism ORPHA:98706 | — | — | 0 recruiting 3 in total | curated |
| 1-3 | Alport Syndrome Alport 综合征 | Alport syndrome ORPHA:63 | — | 12 in dev. | 2 recruiting 6 in total | automatic, exact |
| 1-4 | Amyotrophic Lateral Sclerosis 肌萎缩侧索硬化 | Amyotrophic lateral sclerosis ORPHA:803 | 3 | 8 approved | 20 recruiting 53 in total | automatic, exact |
| 1-5 | Angelman Syndrome Angelman 氏症候群（天使综合征） | Angelman syndrome ORPHA:72 | — | 19 in dev. | 0 recruiting 1 in total | automatic, exact |
| 1-6 | Arginase Deficiency 精氨酸酶缺乏症 | Argininemia ORPHA:90 | — | 2 approved | 0 recruiting 1 in total | automatic, exact |
| 1-7 | Asphyxiating Thoracic Dystrophy (Jeune Syndrome) 热纳综合征（窒息性胸腔失养症） | Jeune syndrome ORPHA:474 | — | — | — | automatic, exact |
| 1-8 | Atypical Hemolytic Uremic Syndrome 非典型溶血性尿毒症 | Atypical hemolytic uremic syndrome ORPHA:2134 | 1 | 3 approved | 2 recruiting 7 in total | automatic, exact |
| 1-9 | Autoimmune Encephalitis 自身免疫性脑炎 | Autoimmune encephalitis ORPHA:622014 | — | 1 in dev. | 15 recruiting 25 in total | automatic, exact |
| 1-10 | Autoimmune Hypophysitis 自身免疫性垂体炎 | Primary hypophysitis ORPHA:95506 | — | — | — | automatic, exact |
| 1-11 | Autoimmune Insulin Receptopathy (Type B insulin resistance) 自身免疫性胰岛素受体病 | Insulin-resistance syndrome type B ORPHA:2298 | — | — | — | curated |
| 1-12 | Beta-ketothiolase Deficiency β-酮硫解酶缺乏症 | Beta-ketothiolase deficiency ORPHA:134 | — | — | — | automatic, exact |
| 1-13 | Biotinidase Deficiency 生物素酶缺乏症 | Biotinidase deficiency ORPHA:79241 | — | — | — | automatic, exact |
| 1-14 | Cardic Ion Channelopathies 心脏离子通道病 | awaiting expert review | — | — | — | — |
| 1-15 | Carnitine Deficiency 原发性肉碱缺乏症 | Systemic primary carnitine deficiency ORPHA:158 | — | 1 approved | — | curated |
| 1-16 | Castleman Disease Castleman病 | Castleman disease ORPHA:160 | 1 | — | 2 recruiting 8 in total | automatic, exact |
| 1-17 | Charcot-Marie-Tooth Disease 腓骨肌萎缩症 | Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy ORPHA:166 | — | 25 in dev. | 2 recruiting 8 in total | curated |
| 1-18 | Citrullinemia 瓜氨酸血症 | Citrullinemia ORPHA:187 | — | 2 approved | — | automatic, exact |
| 1-19 | Congenital Adrenal Hypoplasia 先天性肾上腺发育不良 | Adrenal hypoplasia congenita ORPHA:595337 | — | — | — | automatic, exact |
| 1-20 | Congenital Hyperinsulinemic Hypoglycemia 先天性高胰岛素性低血糖血症 | Congenital isolated hyperinsulinism ORPHA:657 | — | 2 in dev. | 0 recruiting 3 in total | curated |
| 1-21 | Congenital Myasthenic Syndrome 先天性肌无力综合征 | Congenital myasthenic syndrome ORPHA:590 | — | 4 in dev. | — | automatic, exact |
| 1-22 | Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM) 先天性肌强直（非营养不良性肌强直综合征） | Thomsen and Becker disease ORPHA:614 Congenital myotonia ORPHA:206973 | — | — | — | automatic, exact |
| 1-23 | Congenital Scoliosis 先天性脊柱侧弯 | awaiting expert review | — | — | 1 recruiting 2 in total | — |
| 1-24 | Coronary Artery Ectasia 冠状动脉扩张病 | awaiting expert review | — | — | 7 recruiting 17 in total | — |
| 1-25 | Diamond-Blackfan Anemia 先天性纯红细胞再生障碍性贫血 | Diamond-Blackfan anemia ORPHA:124 | — | 4 in dev. | 0 recruiting 2 in total | automatic, exact |
| 1-26 | Erdheim-Chester Disease Erdheim-Chester病 | Erdheim-Chester disease ORPHA:35687 | — | 1 approved | 0 recruiting 2 in total | automatic, exact |
| 1-27 | Fabry Disease 法布雷病 | Fabry disease ORPHA:324 | 1 | 5 approved | 7 recruiting 15 in total | automatic, exact |
| 1-28 | Familial Mediterranean Fever 家族性地中海热 | Familial Mediterranean fever ORPHA:342 | — | 2 approved | 6 recruiting 19 in total | automatic, exact |
| 1-29 | Fanconi Anemia 范可尼贫血 | Fanconi anemia ORPHA:84 | — | 5 in dev. | 3 recruiting 6 in total | automatic, exact |
| 1-30 | Galactosemia 半乳糖血症 | Galactosemia ORPHA:352 | — | 3 in dev. | — | automatic, exact |
| 1-31 | Gaucher’s Disease 戈谢病 | Gaucher disease ORPHA:355 | — | 10 approved | 5 recruiting 12 in total | automatic, exact |
| 1-32 | Generalized Myasthenia Gravis 全身型重症肌无力 | Myasthenia gravis ORPHA:589 | 3 | 13 approved | 46 recruiting 90 in total | curated |
| 1-33 | Gitelman Syndrome Gitelman 综合征 | Gitelman syndrome ORPHA:358 | — | — | 1 recruiting 1 in total | automatic, exact |
| 1-34 | Glutaric Acidemia Type I 戊二酸血症I型 | Glutaryl-CoA dehydrogenase deficiency ORPHA:25 | — | — | 1 recruiting 1 in total | curated |
| 1-35 | Glycogen Storage Disease (Type I、II） 糖原累积病（I型、Ⅱ型） | Glycogen storage disease ORPHA:79201 | — | 8 approved | 5 recruiting 9 in total | automatic, exact |
| 1-36 | Hemophilia 血友病 | Hemophilia ORPHA:448 | 6 | 44 approved | 30 recruiting 114 in total | automatic, exact |
| 1-37 | Hepatolenticular Degeneration(Wilson Disease) 肝豆状核变性 | Wilson disease ORPHA:905 | — | 3 approved | 10 recruiting 16 in total | automatic, exact |
| 1-38 | Hereditary Angioedema (HAE) 遗传性血管性水肿 | Hereditary angioedema ORPHA:91378 | 2 | 11 approved | 3 recruiting 6 in total | automatic, exact |
| 1-39 | Hereditary Epidermolysis Bullosa 遗传性大疱性表皮松解症 | Inherited epidermolysis bullosa ORPHA:79361 | — | 4 approved | 0 recruiting 1 in total | automatic, exact |
| 1-40 | Hereditary Fructose Intolerance 遗传性果糖不耐受症 | Hereditary fructose intolerance ORPHA:469 | — | — | — | automatic, exact |
| 1-41 | Hereditary Hypomagnesemia 遗传性低镁血症 | awaiting expert review | — | — | — | — |
| 1-42 | Hereditary Multi-infarct Dementia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL) 遗传性多发脑梗死性痴呆 | CADASIL ORPHA:136 | — | — | 2 recruiting 3 in total | automatic, exact |
| 1-43 | Hereditary Spastic Paraplegia 遗传性痉挛性截瘫 | Hereditary spastic paraplegia ORPHA:685 | — | 1 in dev. | 3 recruiting 5 in total | automatic, exact |
| 1-44 | Holocarboxylase Synthetase Deficiency 全羧化酶合成酶缺乏症 | Holocarboxylase synthetase deficiency ORPHA:79242 | — | — | — | automatic, exact |
| 1-45 | Homocysteinemia 同型半胱氨酸血症 | Homocystinuria without methylmalonic aciduria ORPHA:622 | — | — | — | curated |
| 1-46 | Homozygous Hypercholesterolemia 纯合子家族性高胆固醇血症 | Homozygous familial hypercholesterolemia ORPHA:391665 | — | 9 approved | 5 recruiting 13 in total | curated |
| 1-47 | Huntington Disease 亨廷顿舞蹈病 | Huntington disease ORPHA:399 | — | 1 approved | 3 recruiting 12 in total | automatic, exact |
| 1-48 | Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome HHH综合征 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome ORPHA:415 | — | 1 approved | — | curated |
| 1-49 | Hyperphenylalaninemia 高苯丙氨酸血症 | Phenylalanine hydroxylase deficiency ORPHA:708881 | — | 5 approved | 4 recruiting 7 in total | curated |
| 1-50 | Hypophosphatasia 低碱性磷酸酶血症 | Hypophosphatasia ORPHA:436 | — | 2 approved | 0 recruiting 2 in total | automatic, exact |
| 1-51 | Hypophosphatemic Rickets 低磷性佝偻病 | Hypophosphatemic rickets ORPHA:437 | — | 1 approved | 0 recruiting 3 in total | automatic, exact |
| 1-52 | Idiopathic Cardiomyopathy 特发性心肌病 | awaiting expert review | — | — | 1 recruiting 4 in total | — |
| 1-53 | Idiopathic Hypogonadotropic Hypogonadism 特发性低促性腺激素性性腺功能减退症 | Congenital hypogonadotropic hypogonadism ORPHA:174590 | — | 1 in dev. | 1 recruiting 5 in total | curated |
| 1-54 | Idiopathic Pulmonary Arterial Hypertension 特发性肺动脉高压 | Idiopathic pulmonary arterial hypertension ORPHA:275766 | — | 23 approved | 18 recruiting 90 in total | automatic, exact |
| 1-55 | Idiopathic Pulmonary Fibrosis 特发性肺纤维化 | Idiopathic pulmonary fibrosis ORPHA:2032 | 2 | 6 approved | 22 recruiting 72 in total | automatic, exact |
| 1-56 | IgG4 related Disease IgG4相关性疾病 | IgG4-related disease ORPHA:284264 | — | 1 in dev. | 20 recruiting 41 in total | automatic, exact |
| 1-57 | Inborn Errors of Bile Acid Synthesis 先天性胆汁酸合成障碍 | Congenital bile acid synthesis defect ORPHA:485631 | — | — | — | curated |
| 1-58 | Isovaleric Acidemia 异戊酸血症 | Isovaleric acidemia ORPHA:33 | — | 1 approved | 0 recruiting 1 in total | automatic, exact |
| 1-59 | Kallmann Syndrome 卡尔曼综合征 | Kallmann syndrome ORPHA:478 | — | — | 0 recruiting 3 in total | automatic, exact |
| 1-60 | Langerhans Cell Histiocytosis 朗格汉斯组织细胞增生症 | Langerhans cell histiocytosis ORPHA:389 | — | 1 in dev. | 18 recruiting 57 in total | automatic, exact |
| 1-61 | Laron Syndrome 莱伦氏综合征 | Laron syndrome ORPHA:633 | — | 1 approved | 0 recruiting 1 in total | automatic, exact |
| 1-62 | Leber Hereditary Optic Neuropathy Leber遗传性视神经病变 | Leber hereditary optic neuropathy ORPHA:104 | — | 1 approved | 1 recruiting 5 in total | automatic, exact |
| 1-63 | Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency 长链3-羟酰基辅酶A脱氢酶缺乏症 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ORPHA:5 | — | 1 in dev. | — | automatic, exact |
| 1-64 | Lymphangioleiomyomatosis (LAM) 淋巴管肌瘤病 | Lymphangioleiomyomatosis ORPHA:538 | — | 2 approved | 1 recruiting 4 in total | automatic, exact |
| 1-65 | Lysinuric Protein Intolerance 赖氨酸尿蛋白不耐受症 | Lysinuric protein intolerance ORPHA:470 | — | 1 in dev. | — | automatic, exact |
| 1-66 | Lysosomal Acid Lipase Deficiency 溶酶体酸性脂肪酶缺乏症 | Lysosomal acid lipase deficiency ORPHA:275761 | — | 2 approved | — | automatic, exact |
| 1-67 | Maple Syrup Urine Disease 枫糖尿症 | Maple syrup urine disease ORPHA:511 | — | 1 approved | — | automatic, exact |
| 1-68 | Marfan Syndrome 马凡综合征 | Marfan syndrome ORPHA:558 | — | 3 in dev. | 1 recruiting 3 in total | automatic, exact |
| 1-69 | McCune-Albright Syndrome McCune-Albrigh综合征 | McCune-Albright syndrome ORPHA:562 | — | — | — | automatic, exact |
| 1-70 | Medium Chain Acyl-CoA Dehydrogenase Deficiency 中链酰基辅酶A脱氢酶缺乏症 | Medium chain acyl-CoA dehydrogenase deficiency ORPHA:42 | — | 1 in dev. | — | automatic, exact |
| 1-71 | Methylmalonic Academia 甲基丙二酸血症 | Methylmalonic acidemia with homocystinuria ORPHA:26 Methylmalonic acidemia without homocystinuria ORPHA:293355 | — | 1 in dev. | — | curated |
| 1-72 | Mitochodrial Encephalomyopathy 线粒体脑肌病 | awaiting expert review | — | — | — | — |
| 1-73 | Mucopolysaccharidosis 黏多糖贮积症 | Mucopolysaccharidosis ORPHA:79213 | — | 12 approved | 1 recruiting 4 in total | automatic, exact |
| 1-74 | Multifocal Motor Neuropathy 多灶性运动神经病 | Multifocal motor neuropathy ORPHA:641 | — | 1 approved | 0 recruiting 3 in total | automatic, exact |
| 1-75 | Multiple Acyl-CoA Dehydrogenase Deficiency 多种酰基辅酶A脱氢酶缺乏症 | Multiple acyl-CoA dehydrogenase deficiency ORPHA:26791 | — | 1 in dev. | — | automatic, exact |
| 1-76 | Multiple Sclerosis 多发性硬化 | NON RARE IN EUROPE: Multiple sclerosis ORPHA:802 | 8 | 25 approved | 39 recruiting 91 in total | curated |
| 1-77 | Multiple System Atrophy 多系统萎缩 | Multiple system atrophy ORPHA:102 | — | 16 in dev. | 25 recruiting 46 in total | automatic, exact |
| 1-78 | Myotonic Dystrophy 肌强直性营养不良 | Myotonic dystrophy ORPHA:206647 | — | 10 in dev. | 2 recruiting 2 in total | automatic, exact |
| 1-79 | N-acetylglutamate Synthase Deficiency N-乙酰谷氨酸合成酶缺乏症 | Hyperammonemia due to N-acetylglutamate synthase deficiency ORPHA:927 | — | 2 in dev. | — | curated |
| 1-80 | Neonatal Diabetes Mellitus 新生儿糖尿病 | Neonatal diabetes mellitus ORPHA:224 | — | 1 approved | 2 recruiting 14 in total | automatic, exact |
| 1-81 | Neuromyelitis Optica 视神经脊髓炎 | Neuromyelitis optica spectrum disorder ORPHA:71211 | 2 | 6 approved | 35 recruiting 75 in total | automatic, exact |
| 1-82 | Niemann-Pick Disease 尼曼匹克病 | Niemann-Pick disease type C ORPHA:646 Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292 Chronic visceral acid sphingomyelinase deficiency ORPHA:77293 Niemann-Pick disease type D ORPHA:79289 | 1 | 4 approved | 0 recruiting 2 in total | curated |
| 1-83 | Non-Syndromic Deafness 非综合征性耳聋 | Rare non-syndromic genetic deafness ORPHA:87884 | — | — | — | curated |
| 1-84 | Noonan Syndrome Noonan综合征 | Noonan syndrome ORPHA:648 | — | 1 approved | 1 recruiting 4 in total | automatic, exact |
| 1-85 | Ornithine Transcarbamylase Deficiency 鸟氨酸氨甲酰基转移酶缺乏症 | Ornithine transcarbamylase deficiency ORPHA:664 | — | 2 approved | 1 recruiting 2 in total | automatic, exact |
| 1-86 | Osteogenesis Imperfecta (Brittle Bone Disease) 成骨不全症（脆骨病） | Osteogenesis imperfecta ORPHA:666 | — | 16 in dev. | 1 recruiting 2 in total | automatic, exact |
| 1-87 | Parkinson Disease (Young-onset , Early-onset) 帕金森病（青年型、早发型） | Young-onset Parkinson disease ORPHA:2828 | — | — | 4 recruiting 189 in total | curated |
| 1-88 | Paroxysmal Nocturnal Hemoglobinuria 阵发性睡眠性血红蛋白尿 | Paroxysmal nocturnal hemoglobinuria ORPHA:447 | 2 | 12 approved | 19 recruiting 51 in total | automatic, exact |
| 1-89 | Peutz-Jeghers Syndrome 黑斑息肉综合征 | Peutz-Jeghers syndrome ORPHA:2869 | — | — | 1 recruiting 4 in total | automatic, exact |
| 1-90 | Phenylketonuria 苯丙酮尿症 | Phenylketonuria ORPHA:716 | — | 3 approved | 4 recruiting 7 in total | automatic, exact |
| 1-91 | POEMS Syndrome POEMS综合征 | POEMS syndrome ORPHA:2905 | — | — | 5 recruiting 7 in total | automatic, exact |
| 1-92 | Porphyria 卟啉病 | Porphyria ORPHA:738 | — | 3 approved | — | automatic, exact |
| 1-93 | Prader-Willi Syndrome Prader-Willi综合征 | Prader-Willi syndrome ORPHA:739 | — | 3 approved | 1 recruiting 2 in total | automatic, exact |
| 1-94 | Primary Combined Immune Deficiency 原发性联合免疫缺陷 | Severe combined immunodeficiency ORPHA:183660 Non-severe combined immunodeficiency ORPHA:480549 | — | 3 approved | 3 recruiting 7 in total | curated |
| 1-95 | Primary Hereditary Dystonia 原发性遗传性肌张力不全 | Isolated dystonia ORPHA:156159 | — | — | 0 recruiting 1 in total | curated |
| 1-96 | Primary Light Chain Amyloidosis 原发性轻链型淀粉样变 | AL amyloidosis ORPHA:85443 | — | 1 approved | 27 recruiting 43 in total | curated |
| 1-97 | Progressive Familial Intrahepatic Cholestasis 进行性家族性肝内胆汁淤积症 | Progressive familial intrahepatic cholestasis ORPHA:172 | — | 3 approved | 1 recruiting 1 in total | automatic, exact |
| 1-98 | Progressive Muscular Dystrophy 进行性肌营养不良 | Progressive muscular dystrophy ORPHA:206644 | — | 10 approved | 8 recruiting 24 in total | automatic, exact |
| 1-99 | Propionic Acidemia 丙酸血症 | Propionic acidemia ORPHA:35 | — | 1 approved | — | automatic, exact |
| 1-100 | Pulmonary Alveolar Proteinosis 肺泡蛋白沉积症 | Autoimmune pulmonary alveolar proteinosis ORPHA:747 Hereditary pulmonary alveolar proteinosis ORPHA:264675 Secondary pulmonary alveolar proteinosis ORPHA:420259 | — | 5 in dev. | 0 recruiting 4 in total | curated |
| 1-101 | Pulmonary Cystic Fibrosis 肺囊性纤维化 | Cystic fibrosis ORPHA:586 | — | 22 approved | 8 recruiting 25 in total | curated |
| 1-102 | Retinitis Pigmentosa 视网膜色素变性 | Retinitis pigmentosa ORPHA:791 | — | 1 approved | 8 recruiting 17 in total | automatic, exact |
| 1-103 | Retinoblastoma 视网膜母细胞瘤 | Retinoblastoma ORPHA:790 | — | 8 in dev. | 6 recruiting 14 in total | automatic, exact |
| 1-104 | Severe Congenital Neutropenia 重症先天性粒细胞缺乏症 | Severe congenital neutropenia ORPHA:42738 | — | 1 in dev. | — | automatic, exact |
| 1-105 | Severe Myoclonic Epilepsy in Infancy (Dravet Syndrome) 婴儿严重肌阵挛性癫痫(Dravet综合征) | Dravet syndrome ORPHA:33069 | — | 4 approved | 3 recruiting 10 in total | automatic, exact |
| 1-106 | Sickle Cell Disease 镰刀型细胞贫血病 | Sickle cell disease ORPHA:275752 | — | 8 approved | 4 recruiting 7 in total | automatic, exact |
| 1-107 | Silver-Russell Syndrome Silver-Russell综合征 | Silver-Russell syndrome ORPHA:813 | — | — | — | automatic, exact |
| 1-108 | Sitosterolemia 谷固醇血症 | Sitosterolemia ORPHA:2882 | — | — | — | automatic, exact |
| 1-109 | Spinal and Bulbar Muscular Atrophy (Kennedy Disease) 脊髓延髓肌萎缩症（肯尼迪病） | Kennedy disease ORPHA:481 | — | 2 in dev. | 8 recruiting 25 in total | automatic, exact |
| 1-110 | Spinal Muscular Atrophy 脊髓性肌萎缩症 | Proximal spinal muscular atrophy ORPHA:70 | 2 | 8 approved | 0 recruiting 39 in total | curated |
| 1-111 | Spinocerebellar Ataxia 脊髓小脑性共济失调 | Autosomal dominant cerebellar ataxia ORPHA:99 | — | 19 in dev. | 3 recruiting 11 in total | curated |
| 1-112 | Systemic Sclerosis 系统性硬化症 | Systemic sclerosis ORPHA:90291 | — | 2 approved | 65 recruiting 94 in total | automatic, exact |
| 1-113 | Tetrahydrobiopterin Deficiency 四氢生物蝶呤缺乏症 | Hyperphenylalaninemia due to tetrahydrobiopterin deficiency ORPHA:238583 | — | 2 in dev. | 0 recruiting 1 in total | curated |
| 1-114 | Tuberous Sclerosis Complex 结节性硬化症 | Tuberous sclerosis complex ORPHA:805 | 2 | 5 approved | 0 recruiting 9 in total | automatic, exact |
| 1-115 | Tyrosinemia 原发性酪氨酸血症 | Tyrosinemia type 1 ORPHA:882 Tyrosinemia type 2 ORPHA:28378 Tyrosinemia type 3 ORPHA:69723 | — | 2 approved | 0 recruiting 1 in total | curated |
| 1-116 | Very Long Chain Acyl-CoA Dehydrogenase Deficiency 极长链酰基辅酶A脱氢酶缺乏症 | Very long chain acyl-CoA dehydrogenase deficiency ORPHA:26793 | — | 1 in dev. | — | automatic, exact |
| 1-117 | Williams Syndrome 威廉姆斯综合征 | Williams syndrome ORPHA:904 | — | — | 1 recruiting 2 in total | automatic, exact |
| 1-118 | Wiskott-Aldrich Syndrome 湿疹血小板减少伴免疫缺陷综合征 | Wiskott-Aldrich syndrome ORPHA:906 | — | 2 approved | — | automatic, exact |
| 1-119 | X-linked Agammaglobulinemia X-连锁无丙种球蛋白血症 | X-linked agammaglobulinemia ORPHA:47 | — | — | 0 recruiting 1 in total | automatic, exact |
| 1-120 | X-linked Adrenoleukodystrophy X-连锁肾上腺脑白质营养不良 | X-linked adrenoleukodystrophy ORPHA:43 | — | 7 in dev. | 3 recruiting 5 in total | automatic, exact |
| 1-121 | X-linked Lymphoproliferative Disease X-连锁淋巴增生症 | X-linked lymphoproliferative disease ORPHA:2442 | — | — | 1 recruiting 1 in total | automatic, exact |
| 2-1 | Achondroplasia 软骨发育不全 | Achondroplasia ORPHA:15 | — | 3 approved | 2 recruiting 7 in total | automatic, exact |
| 2-2 | Acquired hemophilia 获得性血友病 | Acquired hemophilia A ORPHA:599480 Acquired hemophilia B ORPHA:599485 | 1 | — | 3 recruiting 6 in total | curated |
| 2-3 | Acromegaly 肢端肥大症 | Acromegaly ORPHA:963 | 1 | 9 approved | 1 recruiting 13 in total | automatic, exact |
| 2-4 | Adult-onset Still disease 成人斯蒂尔病 | Adult-onset Still disease ORPHA:829 | — | — | 1 recruiting 3 in total | automatic, exact |
| 2-5 | Alagille syndrome Alagille综合征 | Alagille syndrome ORPHA:52 | — | 4 approved | 0 recruiting 1 in total | automatic, exact |
| 2-6 | Alpha-1-antitrypsin deficiency α-１-抗胰蛋白酶缺乏症 | Alpha-1-antitrypsin deficiency ORPHA:60 | — | 25 in dev. | 0 recruiting 1 in total | automatic, exact |
| 2-7 | ANCA-associated vasculitis ANCA相关性血管炎 | Anti-neutrophil cytoplasmic antibody-associated vasculitis ORPHA:156152 | — | 1 approved | 40 recruiting 64 in total | automatic, exact |
| 2-8 | Bardet-Biedl syndrome Bardet-Biedl 综合征 | Bardet-Biedl syndrome ORPHA:110 | — | 2 approved | — | automatic, exact |
| 2-9 | Behçet's disease 白塞病/贝赫切特综合征 | Behçet disease ORPHA:117 | — | 1 in dev. | — | curated |
| 2-10 | Blue rubber bleb nevus 蓝色橡皮疱样痣 | Blue rubber bleb nevus syndrome ORPHA:1059 | — | — | 0 recruiting 1 in total | automatic, exact |
| 2-11 | CDKL5-deficiency disorder CDKL5缺乏症 | CDKL5-deficiency disorder ORPHA:505652 | — | 1 approved | 0 recruiting 4 in total | automatic, exact |
| 2-12 | Choroideremia 无脉络膜症 | Choroideremia ORPHA:180 | — | 6 in dev. | — | automatic, exact |
| 2-13 | Chronic inflammatory demyelinating polyneuropathy 慢性炎性脱髓鞘性多发性神经根神经病 | Chronic inflammatory demyelinating polyneuropathy ORPHA:2932 | — | 4 approved | 13 recruiting 19 in total | automatic, exact |
| 2-14 | Clear cell sarcoma of kidney 肾透明细胞肉瘤 | Clear cell sarcoma of kidney ORPHA:457246 | — | — | 1 recruiting 1 in total | automatic, exact |
| 2-15 | Cold agglutinin disease 冷凝集素病 | Cold agglutinin disease ORPHA:56425 | — | 1 approved | 2 recruiting 2 in total | automatic, exact |
| 2-16 | Congenital biliary atresia 先天性胆道闭锁 | Biliary atresia and associated disorders ORPHA:498345 | — | — | 4 recruiting 20 in total | curated |
| 2-17 | Congenital factor VII deficiency 先天性凝血因子VII缺乏症 | Congenital factor VII deficiency ORPHA:327 | — | 1 approved | 2 recruiting 3 in total | automatic, exact |
| 2-18 | Cryopyrin associated periodic syndrome/ NLRP3-associated systemic autoinflammatory disease 冷吡啉（冷炎素）相关周期性综合征/ NLRP3相关自身炎症性疾病 | NLRP3-associated autoinflammatory disease ORPHA:208650 | — | — | 0 recruiting 2 in total | automatic, exact |
| 2-19 | Cutaneous neuroendocrine carcinoma(Merkel cell carcinoma) 皮肤神经内分泌癌（梅克尔细胞癌） | Cutaneous neuroendocrine carcinoma ORPHA:79140 | — | 5 approved | 1 recruiting 3 in total | automatic, exact |
| 2-20 | Cutaneous T-cell lymphomas 皮肤T细胞淋巴瘤 | Primary cutaneous T-cell lymphoma ORPHA:171901 | — | 4 approved | 10 recruiting 19 in total | curated |
| 2-21 | Cystinosis 胱氨酸贮积症 | Cystinosis ORPHA:213 | — | 5 approved | — | automatic, exact |
| 2-22 | Dermatofibrosarcoma protuberans 隆突性皮肤纤维肉瘤 | Dermatofibrosarcoma protuberans ORPHA:31112 | — | 1 approved | — | automatic, exact |
| 2-23 | Eosinophilic gastroenteritis 嗜酸性粒细胞性胃肠炎 | Eosinophilic gastroenteritis ORPHA:2070 | — | — | 1 recruiting 2 in total | automatic, exact |
| 2-24 | Epithelioid sarcoma 上皮样肉瘤 | Epithelioid sarcoma ORPHA:293202 | — | — | 3 recruiting 4 in total | automatic, exact |
| 2-25 | Facioscapulohumeral muscular dystrophy 面肩肱型肌营养不良症 | Facioscapulohumeral dystrophy ORPHA:269 | — | 4 approved | 1 recruiting 2 in total | automatic, exact |
| 2-26 | Familial hemophagocytic lymphohistiocytosis 家族性噬血细胞淋巴组织细胞增生症 | Familial hemophagocytic lymphohistiocytosis ORPHA:540 | — | — | 0 recruiting 1 in total | automatic, exact |
| 2-27 | Familial adenomatous polyposis 家族性腺瘤性息肉病 | Familial adenomatous polyposis ORPHA:733 | — | 17 in dev. | 2 recruiting 4 in total | automatic, exact |
| 2-28 | Fibrodysplasia ossificans progressiva 进行性骨化性纤维发育不良 | Fibrodysplasia ossificans progressiva ORPHA:337 | — | 3 approved | 1 recruiting 3 in total | automatic, exact |
| 2-29 | Fragile X syndrome 脆性X综合征 | Fragile X syndrome ORPHA:908 | — | 46 in dev. | 0 recruiting 1 in total | automatic, exact |
| 2-30 | Gangliosidosis 神经节苷脂贮积症 | Gangliosidosis ORPHA:309144 | — | 20 in dev. | 0 recruiting 1 in total | automatic, exact |
| 2-31 | Gastroenteropancreatic neuroendocrine neoplasm 胃肠胰神经内分泌肿瘤 | Gastroenteropancreatic neuroendocrine neoplasm ORPHA:100092 | — | — | 4 recruiting 12 in total | automatic, exact |
| 2-32 | Gastrointestinal stromal tumor 胃肠间质瘤 | Gastrointestinal stromal tumor ORPHA:44890 | 1 | 3 approved | 26 recruiting 75 in total | automatic, exact |
| 2-33 | Generalized pustular psoriasis 泛发性脓疱型银屑病 | Generalized pustular psoriasis ORPHA:247353 | 1 | 1 approved | 7 recruiting 17 in total | automatic, exact |
| 2-34 | Genetic hypoparathyroidism 遗传性甲状旁腺功能减退症 | Genetic hypoparathyroidism ORPHA:208593 | — | — | — | automatic, exact |
| 2-35 | Giant cell arteritis 巨细胞动脉炎 | Giant cell arteritis ORPHA:397 | — | 3 approved | 1 recruiting 4 in total | automatic, exact |
| 2-36 | Giant cell tumor of bone 骨巨细胞瘤 | Giant cell tumor of bone ORPHA:363976 | 1 | 2 approved | 5 recruiting 11 in total | automatic, exact |
| 2-37 | Glanzmann thrombasthenia 血小板无力症 | Glanzmann thrombasthenia ORPHA:849 | 1 | 4 in dev. | — | automatic, exact |
| 2-38 | Glioblastoma 胶质母细胞瘤 | Glioblastoma ORPHA:360 | 1 | 2 approved | 56 recruiting 147 in total | automatic, exact |
| 2-39 | Gorlin syndrome 高林综合征 | Gorlin syndrome ORPHA:377 | — | 3 in dev. | — | automatic, exact |
| 2-40 | Hidradenitis suppurativa 化脓性汗腺炎 | awaiting expert review | 1 | — | 13 recruiting 21 in total | — |
| 2-41 | Hutchinson-Gilford progeria syndrome 早老症 | Hutchinson-Gilford progeria syndrome ORPHA:740 | — | 2 approved | — | automatic, exact |
| 2-42 | Inflammatory myofibroblastic tumor 炎性肌纤维母细胞瘤 | Inflammatory myofibroblastic tumor ORPHA:178342 | — | 1 approved | 0 recruiting 3 in total | automatic, exact |
| 2-43 | Leber congenital amaurosis Leber先天性黑矇 | Leber congenital amaurosis ORPHA:65 | — | 1 approved | 1 recruiting 3 in total | automatic, exact |
| 2-44 | Lennox-Gastaut syndrome Lennox-Gastaut 综合征 | Lennox-Gastaut syndrome ORPHA:2382 | 1 | 10 approved | 2 recruiting 9 in total | automatic, exact |
| 2-45 | Limbal stem cell deficiency 角膜缘干细胞缺乏症 | Limbal stem cell deficiency ORPHA:171673 | — | 1 approved | 0 recruiting 2 in total | automatic, exact |
| 2-46 | Malignant hyperthermia 恶性高热 | Malignant hyperthermia of anesthesia ORPHA:423 | — | 2 approved | 1 recruiting 11 in total | curated |
| 2-47 | Malignant pleural mesothelioma 恶性胸膜间皮瘤 | Pleural mesothelioma ORPHA:50251 | — | 2 approved | 8 recruiting 20 in total | curated |
| 2-48 | Melanoma 黑色素瘤 | awaiting expert review | 6 | — | 66 recruiting 195 in total | — |
| 2-49 | Metachromatic leukodystrophy 异染性脑白质营养不良 | Metachromatic leukodystrophy ORPHA:512 | — | 2 approved | 2 recruiting 3 in total | automatic, exact |
| 2-50 | Monogenic non-syndromic obesity 单基因非综合征性肥胖 | Genetic non-syndromic obesity ORPHA:98267 | — | — | — | curated |
| 2-51 | Multiple endocrine neoplasia 多发性内分泌腺瘤病 | Multiple endocrine neoplasia ORPHA:276161 | — | — | 49 recruiting 138 in total | automatic, exact |
| 2-52 | Narcolepsy 发作性睡病 | Narcolepsy ORPHA:619284 | 1 | 8 approved | 7 recruiting 14 in total | automatic, exact |
| 2-53 | Neuroblastoma 神经母细胞瘤 | Neuroblastoma ORPHA:635 | — | 5 approved | 26 recruiting 44 in total | automatic, exact |
| 2-54 | Neurofibromatosis 神经纤维瘤病 | Neurofibromatosis/schwannomatosis ORPHA:634518 | 2 | 4 approved | 3 recruiting 21 in total | curated |
| 2-55 | Neuronal ceroid lipofuscinosis 神经元蜡样脂褐质沉积症 | Neuronal ceroid lipofuscinosis ORPHA:216 | — | 2 approved | — | automatic, exact |
| 2-56 | Neurotrophic keratitis 神经营养性角膜炎 | Neurotrophic keratopathy ORPHA:137596 | — | 2 approved | 1 recruiting 3 in total | automatic, exact |
| 2-57 | Osteosarcoma 骨肉瘤 | Osteosarcoma ORPHA:668 Bone sarcoma ORPHA:223727 | — | 4 approved | 36 recruiting 96 in total | automatic, exact |
| 2-58 | Pemphigus 天疱疮 | Pemphigus vulgaris ORPHA:704 Pemphigus foliaceus ORPHA:79481 | — | 2 approved | 1 recruiting 11 in total | curated |
| 2-59 | Persistent pulmonary hypertension of the newborn 新生儿持续肺动脉高压 | awaiting expert review | — | — | 1 recruiting 3 in total | — |
| 2-60 | Pheochromocytoma 嗜铬细胞瘤 | Pheochromocytoma-paraganglioma ORPHA:573163 | — | 1 approved | 8 recruiting 20 in total | curated |
| 2-61 | PIK3CA related overgrowth syndrome PIK3CA相关过度生长综合征 | PIK3CA-related overgrowth spectrum disorder ORPHA:530313 | — | — | — | automatic, exact |
| 2-62 | Polycythaemia vera 真性红细胞增多症 | Polycythemia vera ORPHA:729 | 2 | 9 approved | 8 recruiting 21 in total | automatic, exact |
| 2-63 | Primary biliary cholangitis 原发性胆汁性胆管炎 | Primary biliary cholangitis ORPHA:186 | — | 7 approved | 15 recruiting 56 in total | automatic, exact |
| 2-64 | Primary ciliary dyskinesia 原发性生长激素缺乏症 | Primary ciliary dyskinesia ORPHA:244 | — | 6 in dev. | — | automatic, exact |
| 2-65 | Primary IGF1 deficiency 原发性胰岛素样生长因子-1缺乏症 | Growth delay due to insulin-like growth factor type 1 deficiency ORPHA:73272 | — | — | — | curated |
| 2-66 | Primary immunodeficiency 原发性免疫缺陷 | Primary immunodeficiency ORPHA:101997 | — | 5 approved | 5 recruiting 14 in total | automatic, exact |
| 2-67 | Primary myelofibrosis 原发性骨髓纤维化 | Primary myelofibrosis ORPHA:824 | 2 | 5 approved | 13 recruiting 44 in total | automatic, exact |
| 2-68 | Primary sclerosing cholangitis 原发性硬化性胆管炎 | Primary sclerosing cholangitis ORPHA:171 | — | 27 in dev. | 1 recruiting 7 in total | automatic, exact |
| 2-69 | Progressive fibrosing interstitial lung disease 进行性纤维化性间质性肺疾病 | awaiting expert review | — | — | 1 recruiting 6 in total | — |
| 2-70 | Recurrent pericarditis 复发性心包炎 | Idiopathic recurrent pericarditis ORPHA:251307 | — | — | — | curated |
| 2-71 | Retinopathy of prematurity 早产儿视网膜病 | Retinopathy of prematurity ORPHA:90050 | — | 1 approved | 1 recruiting 7 in total | automatic, exact |
| 2-72 | Rett syndrome Rett综合征 | Rett syndrome ORPHA:778 | — | 2 approved | 1 recruiting 3 in total | automatic, exact |
| 2-73 | Short bowel syndrome 短肠综合征 | Short bowel syndrome ORPHA:104008 | — | 4 approved | 4 recruiting 13 in total | automatic, exact |
| 2-74 | Systemic juvenile idiopathic arthritis 全身型幼年特发性关节炎 | Systemic-onset juvenile idiopathic arthritis ORPHA:85414 | 1 | 13 approved | 6 recruiting 13 in total | automatic, exact |
| 2-75 | Systemic mastocytosis 系统性肥大细胞增多症 | Systemic mastocytosis ORPHA:2467 | — | 2 approved | 1 recruiting 3 in total | automatic, exact |
| 2-76 | Takayasu arteritis 大动脉炎/多发性大动脉炎 | Takayasu arteritis ORPHA:3287 | — | 2 in dev. | 10 recruiting 25 in total | automatic, exact |
| 2-77 | Tenosynovial giant cell tumor/Pigmented villonodular synovitis 腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎 | Tenosynovial giant cell tumor ORPHA:66627 | — | 1 approved | 3 recruiting 9 in total | automatic, exact |
| 2-78 | Thalassemia major 地中海贫血（重型） | Hemoglobin Bart's fetalis syndrome ORPHA:163596 Beta-thalassemia major ORPHA:231214 | 3 | 3 approved | 21 recruiting 51 in total | curated |
| 2-79 | Thrombotic thrombocytopenic purpura 血栓性血小板减少性紫癜 | Thrombotic thrombocytopenic purpura ORPHA:54057 | — | 5 approved | 64 recruiting 183 in total | automatic, exact |
| 2-80 | Transthyretin amyloidosis 转甲状腺素蛋白淀粉样变性 | Hereditary ATTR amyloidosis ORPHA:271861 | 1 | 5 approved | 11 recruiting 22 in total | curated |
| 2-81 | Tumor necrosis factor receptor associated periodic syndrome 肿瘤坏死因子受体相关周期性综合征 | Tumor necrosis factor receptor 1 associated periodic syndrome ORPHA:32960 | — | — | — | curated |
| 2-82 | Tumor-induced osteomalacia 肿瘤相关骨软化症 | Oncogenic osteomalacia ORPHA:352540 | — | 1 approved | 1 recruiting 5 in total | automatic, exact |
| 2-83 | Von Hippel-Lindau syndrome Von Hippel-Lindau综合征 | Von Hippel-Lindau disease ORPHA:892 | — | 2 approved | 3 recruiting 8 in total | automatic, exact |
| 2-84 | Von Willebrand disease type3 血管性血友病Ⅲ型 | Von Willebrand disease type 3 ORPHA:166096 | — | — | — | curated |
| 2-85 | Waldenström macroglobulinemia/ Lymphoplasmacytic lymphoma 华氏巨球蛋白血症/淋巴浆细胞淋巴瘤 | Waldenström macroglobulinemia ORPHA:33226 | 2 | 1 in dev. | — | automatic, exact |
| 2-86 | West syndrome/Infantile spasms syndrome West综合征/婴儿痉挛综合征 | West syndrome ORPHA:3451 | — | 2 in dev. | 2 recruiting 8 in total | automatic, exact |