| Metadata | |
|---|---|
| ID | DOID:0110118 |
| Name | Leber congenital amaurosis 16 |
| Definition | A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21763485 |
| Xrefs | |
| Synonyms |
LCA16 [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 |