FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term optic atrophy 11 ID (Ontology) DOID:0111436 (Human Disease)
Definition An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1.
Also Known As "OPA11"
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 Genes
 optic atrophy 11       1
 for disease ribbon | optic atrophy 11       1
 model of | optic atrophy 11       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
optic nerve disease              |
 |__optic atrophy________________|
                                 optic atrophy 11  1 rec.
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Is a autosomal recessive disease
optic atrophy
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Synonyms
  • "OPA11" EXACT OMO:0003012
Secondary IDs
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MIM:617302