- Oculo-digito-esophagoduodenal syndrome
- Oligohydramnios sequence
- Omphalocele
- Oncogene
- Opitz syndrome
- Oral-facial-digital syndrome
- Organic acidemias
- Ornithine transcarbamylase deficiency
- Osler-Weber-Rendu syndrome
- Osteoarthritis
- Osteogenesis imperfecta
- Osteoporosis
- Otopalatodigital syndrome
- Ovarian cancer
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