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optic atrophy 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description A condition that features progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia.
Mondo Term and Equivalent IDs
MONDO:0008133:  optic atrophy 3
DOID:0111433: 
GARD:0010203: 
MESH:C537128: 
Orphanet:67036: 
SCTID:719517009: 
UMLS:C1833809: