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

Cri du chat syndrome

MELAS syndrome

Alpha-1 antitrypsin deficiency

Albinism

Isovaleric acidemia

Hereditary nonpolyposis colorectal cancer

Hereditary haemochromatosis

Gastroschisis

Williams syndrome