| Metadata | |
|---|---|
| ID | DOID:0110078 |
| Name | Leber congenital amaurosis 1 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/8944027 |
| Xrefs | |
| Synonyms |
amaurosis congenita of Leber I [EXACT] LCA1 [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 |