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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:604393 - leber congenital amaurosis 4; lca4 retinitis pigmentosa, juvenile, aipl1-related, included;; cone-rod dystrophy, aipl1-related, included

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)