Similar to 世界希少・難治性疾患の日

Osteopetrosis

Chédiak–Higashi syndrome

Channelopathy

Timothy syndrome

Treacher Collins syndrome

Achondroplasia

Cystic fibrosis

Progeria

Huntington's disease

Fanconi anemia

Von Willebrand disease

Von Hippel–Lindau disease

Prader–Willi syndrome

Peutz–Jeghers syndrome

Homocystinuria

Glycogen storage disease type II

Glycogen storage disease type V

Marfan syndrome

Mitochondrial DNA depletion syndrome

Mitochondrial disease

Persistent Müllerian duct syndrome

Maple syrup urine disease

Liddle's syndrome

Lipoid congenital adrenal hyperplasia

Leber's hereditary optic neuropathy

Lesch–Nyhan syndrome

Rett syndrome

Waardenburg syndrome