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Summary Literature (0)
DOID:0110215 - Leber congenital amaurosis 5

Disease Ontology Definition:A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.

Synonyms: LCA5

Xenbase Genes : lca5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011473 - Leber congenital amaurosis 5

MIM:
MIM:604537 - LEBER CONGENITAL AMAUROSIS 5; LCA5

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)