Metadata | |
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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 |