FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term optic atrophy 7 ID (Ontology) DOID:0111437 (Human Disease)
Definition An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1.
Also Known As "OPA7" ; "optic atrophy 7 with or without auditory neuropathy"
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 Genes
 optic atrophy 7       1
 for disease ribbon | optic atrophy 7       1
 model of | optic atrophy 7       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
optic nerve disease              |
 |__optic atrophy________________|
                                 optic atrophy 7  1 rec.
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Is a autosomal recessive disease
optic atrophy
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Synonyms
  • "OPA7" EXACT OMO:0003012
    "optic atrophy 7 with or without auditory neuropathy" EXACT
Secondary IDs
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MESH:C567833
MIM:612989