OBO ID: DOID:0111438 |
Term Name: | optic atrophy 5 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111438 ) |
OTHER optic atrophy 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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