Similar to グルタル酸血症2型

Lipoid congenital adrenal hyperplasia

Lesch–Nyhan syndrome

Blue diaper syndrome

Alkaptonuria

Wilson's disease

1048576

Rare disease

Trisomy 16

DiGeorge syndrome

Subacute sclerosing panencephalitis

Malignant hyperthermia

Antithrombin III deficiency

Weaver syndrome

Williams syndrome

H syndrome

Pyoderma gangrenosum

Erdheim–Chester disease

Distal myopathy

Ohtahara syndrome

Orotic aciduria

Ulcerative colitis

Cowden syndrome

Familial Mediterranean fever

Hidradenitis suppurativa

Kabuki syndrome

Kallmann syndrome

Gangliosidosis

Interstitial lung disease