FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term optic atrophy 12 ID (Ontology) DOID:0080840 (Human Disease)
Definition An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11.
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Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 optic atrophy 12       1      1
 for disease ribbon | optic atrophy 12       1       --
 model of | optic atrophy 12       1       --
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autosomal genetic disease
 |__autosomal dominant disease__
optic nerve disease             |
 |__optic atrophy_______________|
                                optic atrophy 12  2 rec.
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Is a autosomal dominant disease
optic atrophy
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MIM:618977