Oculopharyngeal muscular dystrophy

Autosomal dominant, Autosomal recessive

Adult, Elderly

Oculopharyngodistal myopathy

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood

Oculoskeletodental syndrome

Autosomal recessive

Adolescent, Adult, Childhood

Odonto-onycho-dermal dysplasia

Autosomal recessive

Childhood

Oligoarticular juvenile idiopathic arthritis

Multigenic/multifactorial

Childhood

Oligoastrocytoma

Oligocone trichromacy

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Oligodendroglioma

Not applicable

All ages

Ollier disease

Not applicable

Adolescent, Adult, Childhood

Omenn syndrome

Autosomal recessive

Infancy, Neonatal

Omsk hemorrhagic fever

All ages

Onchocerciasis

Not applicable

All ages

Oncogenic osteomalacia

Not applicable

All ages

Onychocytic matricoma

Adolescent, Adult, Childhood, Elderly

Onychomatricoma

Unknown

All ages

Opsismodysplasia

Autosomal recessive

Neonatal

Opsoclonus-myoclonus syndrome

Not applicable

Childhood, Infancy

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Autosomal recessive

Adolescent, Childhood, Infancy

Optic atrophy-intellectual disability syndrome

Autosomal dominant

Neonatal

Optic pathway glioma

Not applicable

All ages

Oral submucous fibrosis

All ages

Orbital leiomyoma

Unknown

Adult

Orgasm-induced epilepsy

Adult

Ornithine transcarbamylase deficiency

X-linked recessive

All ages