Search Ontology:
Human Disease

optic atrophy 5

Term ID
DOID:0111438
Synonyms
  • OPA5
Definition
An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. https://www.ncbi.nlm.nih.gov/pubmed/28969390
References
Ontology
Human Disease   ( DOID:0111438 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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