OBO ID: DOID:0110291 |
Term Name: | Leber congenital amaurosis 10 | Search Ontology: | |
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Definition: | A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. https://www.ncbi.nlm.nih.gov/pubmed/16909394 | ||
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Ontology: | Human Disease ( DOID:0110291 ) |
OTHER Leber congenital amaurosis 10 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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