On May 11th, 2018, the China National Health Commission, together with other 5 authorities including CFDA, published the first catalog of total number of 121 rare diseases. This is the first time in China to define the rare diseases.
21-Hydroxyulase Deficiency
Albinism
Alport Syndrome
Amyotrophic Lateral Sclerosis
Angelman Syndrome
Arginase Deficiency
Asphyxiating Thoracic Dystrophy(Jeune Syndrome)
Atypical Hemolytic Uremic Syndrome
Autoimmune Encephalitis
Autoimmune Hypophysitis
Autoimmune Insulin Receptopathy (Type B insulin resistance)
Beta-ketothiolase Deficiency
Biotinidase Deficiency
Cardic Ion Cbannelopathies
Camitine Deficiency
Castleman Disease
Charcot-Marie-Tooth Disease
Citrullinemia
Congenital Adrenal Hypoplasia
Congenital Hperinsulinemic Hypoglycemia
Congenital Myasthenic Syndrome
Congenital Myotonia Syndrome (Non-Dystrophic Myotonia, NDM)
Congenital Scoliosis
Coronary Artery Ectasia
Diamond-Blackfan Anemia
Erdbeim-Cbester Disease
Fabry Disease
Familial Mediterranean Fever
Fanconi Anemia
Galactosemia
Gaucher’s Disease
General Myathenic Gravis
Gitelman Syndrome
Glutaric Acidemia Type I
Glycogen Storage Disease (Type I, Il)
Hemophilia
Hepatolenticular Degeneration(Wilson Disease)
Hereditary Angioedema (HAE)
Hereditary Epidamolysis Bullosa
Hereditary Fructose Intolerance
Hereditary Hypomagnesemia
Hereditary Multi-infarct Daneotia (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL)
Hereditary Spastic Paraplegia
Holocarboxylase Syntbetase Deficiency
Homocysteinemia
Homozygous Hypercholesterolemia
Huntington Disease
Hyperornitbinaemia-Hyperammonaemia-Hhomocit rullinuria Syndrome
Hyperpbenylalaninemia
Hypophosphatasia
Hypophosphatemic Rickets
Idiopathic Cardiomyopathy
Idiopathic Hypogooadotropic Hypogonadism
Idiopathic Pulmonary Arterial Hypertension
Idiopathic Pulmonary Fibrosis
IgG4 related Disease
Inborn Errors of Bile Acid Synthesis
Isovaleric Acidemia
Kallmann Syndrome
Langerhans CeJI Histiocytosis
Laron Syndrome
Leber Hereditary Optic Neuropathy
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Lymphangioleiomyomatosis (LAM)
Lysine Urinary Protein Intolerance
Lysosomal Acid Lipase Deficiency
Maple Syrup Urine Disease
Marfan Syndrome
McCune-Albright Syndrome
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Methylmalonic Academia
Mitochodrial Encephalomyopathy
Mucopolysaccharidosis
Multi-Focal Motor Neurothy
Multiple Acyl-CoA Dehydrogenase Deficiency
Multiple Sclerosis
Multiple System Atrophy
Myotonic Dystrophy
NAGS Deficiency
Neonatal Diabetes Mellitus
Neuromyelitis Optica
Niemann-Pick Disease
Non-Syndromic Deafness
Noonan Syndrome
Ornithine Transcarbamylase Deficiency
Ostcogenesis Impafecta (Brittle Bone Disease)
Parlcimon Disease (Young-onset , Early-onset)
Paroxysmal Nocturnal Hemoglobinuia
Peutz-Jeghers Syndrome
Phnylketouria
POEMS Syndrome
Porpbyria
Prader-Willi Syndrome
Primary Combined Immune Deficiency
Primary Hcmlitary Dystonia
Primary Light Chain Amyloidosis
Progressive Familial Intrahepatic Cholestasis
Progressive Muscular Dystrophies
Propionic Acidemia
Pulmonary Alveolar Proteinosis
Pulmonary Cystic Fibrosis
Retinitis Pigmentosa
Retinoblastoma
Severe Congenital Neutropenia
Severe Myoclonic Epilepsy In lnfaricy (Dravet Syndrome)
Sickcle Cell Disease
Silver-Russell Syndrome
Sitosterolemia
Spinal and Bulbar Muscular Atrophy (Kennedy Disease)
Spinal Muscular Atrophy
Spinocerebellar Ataxia
Systemic Sclerosis
Tetrahydrobiopterin Deficiency
Tuberous Sclerosis Complex
Tyrosinemia
Very Long Chain Acyl-CoA Dehydrogenase Deficiency
Williams Syndrome
Wiskott-Aldricb Syndrome
X-linked Agammaglobulinemia
X-linked Ldrenoleuko Dystrophy
X-linked Lymphoproliferative Disease