|OBO ID: DOID:0110215|
|Term Name:||Leber congenital amaurosis 5||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0110215)|
|is a type of:||
OTHER Leber congenital amaurosis 5 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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