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Summary Literature (0)
DOID:0110291 - Leber congenital amaurosis 10

Disease Ontology Definition:A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32.

Synonyms: LCA10

Xenbase Genes : cep290

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012723 - Leber congenital amaurosis 10


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

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