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- Phenylketonuria
- Cystic fibrosis
- Canavan disease
- Wilson's disease
- Thalassemia
- Recessive allele
- Werner syndrome
- Fanconi anemia
- Niemann-Pick disease
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Parkin (ligase)
- Copper toxicosis
- Price equation
- Familial dysautonomia
- Sandhoff disease
- Progressive external ophthalmoplegia
- Acatalasemia
- Aceruloplasminemia
- ZAP70 deficiency
- Apparent mineralocorticoid excess
- 2,8 dihydroxy-adenine urolithiasis
- Wikipedia talk:WikiProject Medical Genetics/Guidelines
- User:Cburnett/GFDL images
- Juvenile primary lateral sclerosis
- Atransferrinemia
- Meckel syndrome