Similar to オルブライト遺伝性骨異栄養症

Alkaptonuria

Glucose-6-phosphate dehydrogenase deficiency

Cystinosis

Citrullinemia

Tyrosinemia

Homocystinuria

Glycogen storage disease type V

Acatalasia

Maple syrup urine disease

Lipoid congenital adrenal hyperplasia

Lesch–Nyhan syndrome

Genetic disorder

Trisomy 16

DiGeorge syndrome

Chromosome 5q deletion syndrome

ATR-X syndrome

CHARGE syndrome

FG syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Usher syndrome

Albinism

Alport syndrome

Isovaleric acidemia

Hereditary sensory and autonomic neuropathy

Hereditary nonpolyposis colorectal cancer