Disease association ontology term - MONDO:0014720 - autosomal dominant optic atrophy plus syndrome
Term summary
- ID
- MONDO:0014720
- Name
- autosomal dominant optic atrophy plus syndrome
- Ontology or CV name
- Disease association
- Definition
- Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.
