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Summary Literature (0)
DOID:0110329 - Leber congenital amaurosis 6

Disease Ontology Definition:A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.

Synonyms: LCA6,

Xenbase Genes : rpgrip1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013446 - Leber congenital amaurosis 6

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), autosomal recessive disease (is_a)