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Echinobase
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,

Echinobase Genes : lca5


OMIM:
MIM:604537 - leber congenital amaurosis 5; lca5

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

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