国内指定難病リスト
Spinocerebellar Ataxia
Amyotrophic Lateral Sclerosis
Spinal Muscular Atrophy
Primary Lateral Sclerosis
Progressive Supranuclear Palsy
Parkinson's Disease
Corticobasal Degeneration
Huntington's Disease
Neuroacanthocytosis
Charcot-Marie-Tooth Disease
Myasthenia Gravis
Congenital Myasthenic Syndromes
Multiple Sclerosis / Optic Neuritis
Chronic Inflammatory Demyelinating Polyneuropathy
Inclusion Body Myositis
Crow-Fukase Syndrome
Multiple System Atrophy
Spinal Cerebellar Degeneration (excluding MSA)
Lysosomal Storage Disorders
Adrenoleukodystrophy
Mitochondrial Diseases
Moyamoya Disease
Prion Diseases
Subacute Sclerosing Panencephalitis
Progressive Multifocal Leukoencephalopathy
HTLV-1 Associated Myelopathy
Idiopathic Basal Ganglia Calcification
Systemic Amyloidosis
Ulrich Disease
Distal Myopathy
Bethlem Myopathy
Autophagic Vacuolar Myopathy
Schwarz-Yampel Syndrome
Neurofibromatosis
Pemphigus
Epidermolysis Bullosa
Pustular Psoriasis (Generalized Type)
Stevens-Johnson Syndrome
Toxic Epidermal Necrolysis
Takayasu Arteritis
Giant Cell Arteritis
Polyarteritis Nodosa
Microscopic Polyangiitis
Granulomatosis with Polyangiitis
Eosinophilic Granulomatosis with Polyangiitis
Malignant Rheumatoid Arthritis
Buerger's Disease
Primary Antiphospholipid Syndrome
Systemic Lupus Erythematosus
Dermatomyositis / Polymyositis
Systemic Sclerosis
Mixed Connective Tissue Disease
Sjögren's Syndrome
Adult-onset Still's Disease
Relapsing Polychondritis
Behçet's Disease
Idiopathic Dilated Cardiomyopathy
Hypertrophic Cardiomyopathy
Restrictive Cardiomyopathy
Aplastic Anemia
Autoimmune Hemolytic Anemia
Paroxysmal Nocturnal Hemoglobinuria
Idiopathic Thrombocytopenic Purpura
Thrombotic Thrombocytopenic Purpura
Primary Immunodeficiency Syndrome
IgA Nephropathy
Polycystic Kidney Disease
Ossification of the Yellow Ligament
Ossification of the Posterior Longitudinal Ligament
Lumbar Spinal Stenosis
Idiopathic Avascular Necrosis of the Femoral Head
Pituitary ADH Secretion Disorder
Pituitary TSH Hypersecretion Syndrome
Pituitary PRL Hypersecretion Syndrome
Cushing's Disease
Pituitary Gonadotropin Hypersecretion Syndrome
Pituitary Growth Hormone Hypersecretion Syndrome
Pituitary Hypofunction
Familial Hypercholesterolemia (Homozygous)
Thyroid Hormone Resistance
Congenital Adrenal Cortex Enzyme Deficiency
Congenital Adrenal Hypoplasia
Addison's Disease
Sarcoidosis
Idiopathic Interstitial Pneumonitis
Pulmonary Arterial Hypertension
Pulmonary Vein Obstruction / Pulmonary Capillary Hemangiomatosis
Chronic Thromboembolic Pulmonary Hypertension
Lymphangioleiomyomatosis
Retinitis Pigmentosa
Budd-Chiari Syndrome
Idiopathic Portal Hypertension
Primary Biliary Cholangitis
Primary Sclerosing Cholangitis
Autoimmune Hepatitis
Crohn's Disease
Ulcerative Colitis
Eosinophilic Gastroenteritis
Chronic Idiopathic Pseudo-obstruction
Giant Bladder Small Colon Intestinal Peristalsis Failure Syndrome
Intestinal Ganglion Cell Hypoplasia
Rubinstein-Taybi Syndrome
CFC Syndrome
Costello Syndrome
CHARGE Syndrome
Cryopyrin-Associated Periodic Syndrome
Juvenile Idiopathic Arthritis
TNF Receptor-Associated Periodic Syndrome
Atypical Hemolytic Uremic Syndrome
Blau Syndrome
Congenital Myopathy
Marinesco-Sjögren Syndrome
Muscular Dystrophy
Non-Dystrophic Myotonia Syndrome
Hereditary Periodic Limb Paralysis
Atopic Myelitis
Syringomyelia
Spinal Meningocele
Isaacs Syndrome
Hereditary Dystonia
Brain Iron Deposition Neurodegenerative Disease
Cerebral Hemoziderin Deposition
HTRA1-Related Cerebral Small Vessel Disease
Autosomal Dominant Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids
Perry Syndrome
Frontotemporal Degeneration
Bickerstaff Brainstem Encephalitis
Seizure Status-Type (Biphasic) Acute Encephalopathy
Congenital Insensitivity to Pain and Anhidrosis
Alexander Disease
Congenital Supranuclear Palsy
Moebius Syndrome
Septal Optic Nerve Dysplasia/Domouris Syndrome
Aicardi Syndrome
Hemimegalencephaly
Focal Cortical Dysplasia
Neuronal Migration Disorder
Congenital Cerebral White Matter Hypoplasia
Dravet Syndrome
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis
Myoclonic Absence Epilepsy
Epilepsy with Myoclonic Atonic Seizures
Lennox-Gastaut Syndrome
West Syndrome
Ohtahara Syndrome
Early Myoclonic Encephalopathy
Infantile Epilepsy with Focal Seizures
Hemiconvulsion Hemiplegia Epilepsy Syndrome
Ring 20 Chromosome Syndrome
Rasmussen Encephalitis
PCDH19-Related Syndrome
Intractable Frequent Partial Seizure Status Acute Encephalitis
Epileptic Encephalopathy with Persistent Spikes and Waves during Slow Sleep
Landau-Kleffner Syndrome
Rett Syndrome
Sturge-Weber Syndrome
Tuberous Sclerosis
Xeroderma Pigmentosum
Congenital Ichthyosis
Familial Benign Chronic Pemphigus
Pemphigus-like Epidermolysis Bullosa
Idiopathic Acquired Anhidrosis
Oculocutaneous Albinism
Hypertrophic Dermal Periostitis
Pseudoxanthoma Elasticum
Marfan Syndrome / Loeys-Dietz Syndrome
Ehlers-Danlos Syndrome
Menkes Disease
Occipital Horn Syndrome
Wilson Disease
Hypophosphatasia
VATER Syndrome
Nasu-Hakola Disease
Weaver Syndrome
Coffin-Lowry Syndrome
Joubert Syndrome-Related Disorders
Mowat-Wilson Syndrome
Williams Syndrome
ATR-X Syndrome
Crouzon Syndrome
Apert Syndrome
Pfeiffer Syndrome
Antley-Bixler Syndrome
Coffin-Siris Syndrome
Rasmussen-Tomson Syndrome
Kabuki Syndrome
Polysplenia Syndrome
Asplenia Syndrome
Branchio-oto-renal Syndrome
Werner Syndrome
Cohen Syndrome
Prader-Willi Syndrome
Sotos Syndrome
Noonan Syndrome
Young-Simpson Syndrome
1p36 Deletion Syndrome
4p Deletion Syndrome
5p Deletion Syndrome
Chromosome 14 Paternal Disomy Syndrome
Angelman Syndrome
Smith-Magenis Syndrome
22q11.2 Deletion Syndrome
Emmanuel Syndrome
Fragile X Syndrome-related Disorders
Fragile X Syndrome
Persistent Truncus Arteriosus
Corrected Transposition of the Great Arteries
Complete Transposition of the Great Arteries
Single Ventricle
Hypoplastic Left Heart Syndrome
Tricuspid Valve Atresia
Pulmonary Atresia Without Ventricular Septal Defect
Pulmonary Atresia With Ventricular Septal Defect
Tetralogy of Fallot
Double Outlet Right Ventricle
Epstein Disease
Alport Syndrome
Galloway-Mowat Syndrome
Rapidly Progressive Glomerulonephritis
Anti-GBM Nephritis
Primary Nephrotic Syndrome
Primary Membranoproliferative Glomerulonephritis
Henoch-Schonlein Purpura Nephritis
Congenital Nephrogenic Diabetes Insipidus
Interstitial Cystitis (Hannah Type)
Osler Disease
Obstructive Bronchiolitis
Alveolar Proteinosis (Autoimmune or Congenital)
Alveolar Hypoventilation Syndrome
Alpha-1 Antitrypsin Deficiency
Carney Complex
Wolfram Syndrome
Peroxisomal Disorders (Excluding Adrenoleukodystrophy)
Hypoparathyroidism
Pseudohypoparathyroidism
Adrenocorticotropic Hormone Resistance
Vitamin D Resistant Rickets/Osteomalacia
Vitamin D Dependent Rickets/Osteomalacia
Phenylketonuria
Type 1 Tyrosinemia
Type 2 Tyrosinemia
Type 3 Tyrosinemia
Maple Syrup Urine Disease
Propionic Acidemia
Methylmalonic Acidemia
Isovaleric Acidemia
Glucose Transporter Type 1 Deficiency Syndrome
Type 1 Glutaric Acidemia
Type 2 Glutaric Acidemia
Urea Cycle Disorder
Lysinuric Protein Intolerance
Congenital Folate Malabsorption
Porphyria
Compound Carboxylase Deficiency
Muscle Glycogen Storage Disease
Liver Glycogen Storage Disease
Galactose-1-phosphate Uridyltransferase Deficiency
Lecithin-Cholesterol Acyltransferase Deficiency
Sitosterolemia
Tangier Disease
Primary Hyperchylomicronemia
Cerebral Tendinous Xanthomatosis
Apolipoprotein B Deficiency
Lipodystrophy
Familial Mediterranean Fever
Hyper IgD Syndrome
Nakajima-Nishimura Syndrome
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne Syndrome
Chronic Recurrent Multifocal Osteomyelitis
Ankylosing Spondylitis
Progressive Osseous Heteroplasia
Congenital Scoliosis with Rib Abnormalities
Osteogenesis Imperfecta
Thanatophoric Dysplasia
Achondrogenesis
Lymphangioleiomyomatosis/Goham Syndrome
Massive Lymphatic Malformation (Cervical Facial Lesions)
Massive Venous Malformation (Cervical Oral Pharyngeal Lesions)
Massive Arteriovenous Malformation (Cervical Facial or Limb Lesions)
Klippel-Trenaunay-Weber Syndrome
Congenital Erythropoietic Anemia
Acquired Erythroblastopenia
Diamond-Blackfan Anemia
Fanconi Anemia
Hereditary Sideroblastic Anemia
Epstein Syndrome
Autoimmune Acquired Coagulation Factor Deficiency
Cronkite-Canada Syndrome
Non-Specific Multicentric Ileal Ulceration Syndrome
Hirschsprung Disease (Total Colon or Small Bowel Type)
Exstrophy of the Cloaca
Cloacal Malformation
Congenital Diaphragmatic Hernia
Infantile Hepatic Hemangioma
Biliary Atresia
Alagille Syndrome
Hereditary Pancreatitis
Cystic Fibrosis
IgG4-related disease
Macular dystrophy
Leber hereditary optic neuropathy
Usher syndrome
Young onset bilateral sensorineural hearing loss
Late-onset endolymphatic hydrops
Eosinophilic sinusitis
Canavan disease
Progressive leukoencephalopathy
Progressive myoclonic epilepsy
Congenital abnormality syndrome
Congenital tricuspid valve stenosis
Congenital mitral valve stenosis
Congenital pulmonary vein stenosis
Left pulmonary artery-right pulmonary artery origin anomaly
Nail-patella syndrome (Nail-patella syndrome)
Carnitine cycle disorder
Triad enzyme deficiency
Citrin deficiency
Sepiapterin reductase (SR) deficiency
Congenital glycosylphosphatidylinositol (GPI) deficiency
Non-ketotic hyperglycinemia
β-ketothiolase deficiency
Aromatic L-amino acid decarboxylase deficiency
Methylglutaconic aciduria
Hereditary autoinflammatory diseases
Osteopetrosis
Idiopathic thrombosis (only hereditary thrombotic predispositions)
Anterior segment malformation
Aniridia
Congenital tracheal stenosis / Congenital subglottic stenosis
Idiopathic multicentric Castleman disease
Gelatinous drop-like corneal dystrophy
Hutchinson-Gilford syndrome
Brain creatine deficiency syndrome
Nephronophthisis
Familial hypobetalipoproteinemia 1 (homozygous)
Homocystinuria
Progressive familial intrahepatic cholestasis
MECP2 duplication syndrome
Ciliary dysfunction syndrome (including Kartagener syndrome)
TRPV4-related disorders