OBO ID: DOID:0110330 |
Term Name: | Leber congenital amaurosis 13 | Search Ontology: | |
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Definition: | A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15258582 | ||
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Ontology: | Human Disease ( DOID:0110330 ) |
OTHER Leber congenital amaurosis 13 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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