Term Name: | Leber congenital amaurosis 2 |
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Synonyms: | amaurosis congenita of Leber II, LCA2 |
Definition: | A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. |
Ontology: | Human Disease [DOID:0110016] ( DOID:0110016 ) |