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Summary Literature (1)
DOID:14791 - Leber congenital amaurosis

Disease Ontology Definition:A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Synonyms: LCA, Leber's amaurosis, Leber's congenital amaurosis, Leber's disease,

Xenbase Genes : crx, crb1, aipl1, spata7, impdh1, rpe65, iqcb1, kcnj13, nmnat1, lrat, pcyt1a, rd3, lca5, rpgrip1, gucy2d, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018998 - Leber congenital amaurosis


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): physical disorder (is_a), retinal disease (is_a)