Similar to 副腎酵素欠損症

Lesch–Nyhan syndrome

Blue diaper syndrome

Alkaptonuria

Wilson's disease

Noonan syndrome with multiple lentigines

Noonan syndrome

RASopathy

Rare disease

Trisomy 16

DiGeorge syndrome

Subacute sclerosing panencephalitis

Malignant hyperthermia

Antithrombin III deficiency

Hereditary sensory and autonomic neuropathy

Weaver syndrome

Williams 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