| Metadata | |
|---|---|
| ID | DOID:0110291 |
| Name | Leber congenital amaurosis 10 |
| Definition | A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. https://www.ncbi.nlm.nih.gov/pubmed/16909394 |
| Xrefs | |
| Synonyms |
LCA10 [EXACT] |
| Parent Relationships |
is_a Leber congenital amaurosis is_a monogenic disease |