| Metadata | |
|---|---|
| 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 | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |