Metadata | |
---|---|
ID | DOID:0110331 |
Name | Leber congenital amaurosis 3 |
Definition | A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. https://www.ncbi.nlm.nih.gov/pubmed/19268277 |
Xrefs | |
Synonyms |
LCA3 [EXACT] |
Parent Relationships |
is_a Leber congenital amaurosis is_a monogenic disease |
Subclass Logical Relationships |
disease has basis in some gene disease has basis in some Abnormality of prenatal development or birth |