Similar to 希少疾患

CHARGE syndrome

Chromosome 5q deletion syndrome

MELAS syndrome

Usher syndrome

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Werner syndrome

H syndrome

Ehlers–Danlos syndrome

Trisomy 18

Osteogenesis imperfecta

Rare Disease Day

Congenital insensitivity to pain with anhidrosis

Sotos syndrome

Down syndrome

Dravet syndrome

Patau syndrome

Anencephaly

Monilethrix

Trisomy 16

DiGeorge syndrome

Alkaptonuria

Hereditary nonpolyposis colorectal cancer

Gastroschisis

Williams syndrome