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Metadata
ID DOID:0111435
Name optic atrophy 6
Definition An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22.
https://www.ncbi.nlm.nih.gov/pubmed/14508503
Xrefs

OMIM:258500

Synonyms

OPA6 [EXACT]

Parent Relationships

is_a optic atrophy

is_a autosomal recessive disease

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