Category:遺伝子疾患

Huntington's disease

Prader–Willi syndrome

Sickle cell disease

Klinefelter syndrome

Ehlers–Danlos syndrome

Fragile X syndrome

Familial Mediterranean fever

Williams syndrome

Trimethylaminuria

Down syndrome

Cockayne syndrome

Hereditary nonpolyposis colorectal cancer

Lesch–Nyhan syndrome

Cystic fibrosis

Primary ciliary dyskinesia

Neurofibromatosis type I

Von Hippel–Lindau disease

Periodic paralysis

Common variable immunodeficiency

Treacher Collins syndrome

Cronkhite–Canada syndrome

Congenital muscular dystrophy

Turner syndrome

Neurofibromatosis type II

Sotos syndrome

Channelopathy