Search Ontology:
Human Disease

optic atrophy 10

Term ID
DOID:0111434
Synonyms
  • OPA10
  • optic atrophy 10 with or without ataxia, mental retardation, and seizures
Definition
An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/26593267
References
Ontology
Human Disease   ( DOID:0111434 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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