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Summary Literature (0)
DOID:0110332 - Leber congenital amaurosis 4

Disease Ontology Definition:A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13.

Synonyms: LCA4

Xenbase Genes : aipl1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011458 - Leber congenital amaurosis 4


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)