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autosomal dominant optic atrophy plus syndrome

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


GARD Rare
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0014720:  autosomal dominant optic atrophy plus syndrome
DOID:0111340: 
GARD:0005243: 
Orphanet:1215: 
SCTID:715374003: 
UMLS:C1852267: 
UMLS:C4275164: