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Metadata
ID DOID:0111440
Name optic atrophy 4
Definition An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3.
https://www.ncbi.nlm.nih.gov/pubmed/10369594
Xrefs

MESH:C565343

OMIM:605293

Synonyms

OPA4 [EXACT]

Parent Relationships

is_a optic atrophy

is_a autosomal dominant disease

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