OBO ID: DOID:0110215 |
Term Name: | Leber congenital amaurosis 5 | Search Ontology: | |
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Definition: | A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. https://www.ncbi.nlm.nih.gov/pubmed/17546029 | ||
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Ontology: | Human Disease ( DOID:0110215 ) |
OTHER Leber congenital amaurosis 5 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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