OBO ID: DOID:0111434
Term Name: optic atrophy 10 Search Ontology:
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 optic atrophy 10 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RTN4IP1 Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures 616732
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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