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Leber congenital amaurosis 1
http://purl.obolibrary.org/obo/DOID_0110078

A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.

Exact Synonyms
amaurosis congenita of Leber I
LCA1
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