Leber congenital amaurosis 10

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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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cep290

OMIM:

MIM:611755 - leber congenital amaurosis 10; lca10

MIM:611755 - leber congenital amaurosis 10; lca10

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)