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Summary Literature (0)
DOID:0110016 - Leber congenital amaurosis 2

Disease Ontology Definition:A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1.

Synonyms: amaurosis congenita of Leber II, LCA2

Xenbase Genes : rpe65

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008765 - Leber congenital amaurosis 2


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), Leber congenital amaurosis (is_a)