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designated intractable/rare disease
Instances
Stevens–Johnson syndrome
? TBD
Skin disease
Rheumatoid arthritis
? TBD
Type of autoimmune arthritis
Ulcerative colitis
? TBD
Inflammatory bowel disease that causes ulcers in the colon
Parkinson's disease
? TBD
Long-term neurodegenerative disease
Multiple sclerosis
? TBD
Disease that damages the myelin sheaths around nerves
Autoimmune hemolytic anemia
? TBD
Blood disorder in which antibodies target red blood cells
Tetralogy of Fallot
? TBD
Type of congenital heart defect
Familial hypercholesterolemia
? TBD
Genetic disorder characterized by high cholesterol levels
Tangier disease
? TBD
Medical condition
Crohn's disease
? TBD
Type of inflammatory bowel disease
ALS
? TBD
Rare neurodegenerative disease
Cystic fibrosis
? TBD
Genetic disorder inhibiting clearance of mucus from the lungs
Wilson's disease
? TBD
Genetic multisystem copper-transport disease
Dermatomyositis
? TBD
Long-term inflammatory disorder of the skin and muscles
Myasthenia gravis
? TBD
Autoimmune disease resulting in skeletal muscle weakness
Huntington's disease
? TBD
Inherited neurodegenerative disorder
Muscular dystrophy
? TBD
Diseases in which skeletal and visceral muscles breaks down over time
Lupus
? TBD
Autoimmune disease in which the immune system attacks healthy tissue
Costello syndrome
? TBD
Medical condition
Usher syndrome
? TBD
Recessive genetic disorder causing deafblindness
Hypertrophic cardiomyopathy
? TBD
Enlargement of the heart muscle
Wolfram syndrome
? TBD
Human disease
Tuberous sclerosis
? TBD
Genetic condition causing non-cancerous tumours
Multiple system atrophy
? TBD
Neurodegenerative disorder
Systemic-onset juvenile idiopathic arthritis
? TBD
Medical condition
Fragile X syndrome
? TBD
X-linked dominant genetic disorder
Immune thrombocytopenic purpura
? TBD
Medical condition with rash and bleeding risk
Takayasu's arteritis
? TBD
Medical condition
Hypoparathyroidism
? TBD
Endocrine disease
Primary familial brain calcification
? TBD
Genetic disorder involving calcification of the basal ganglia