Metadata | |
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ID | DOID:0110016 |
Name | Leber congenital amaurosis 2 |
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. https://www.ncbi.nlm.nih.gov/pubmed/9326927 |
Xrefs | |
Synonyms |
amaurosis congenita of Leber II [EXACT] LCA2 [EXACT] |
Parent Relationships |