Term Name: Leber congenital amaurosis 16
Synonyms: LCA16
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.
Ontology: Human Disease [DOID:0110118]   ( DOID:0110118 )

Relationships
is a type of: autosomal recessive disease Leber congenital amaurosis