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Summary Literature (0)
DOID:0110078 - Leber congenital amaurosis 1

Disease Ontology Definition:A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.

Synonyms: amaurosis congenita of Leber I, LCA1

Xenbase Genes : gucy2d

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008764 - Leber congenital amaurosis 1


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)