Leber congenital amaurosis 5

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Summary

Literature (0)

DOID:0110215 - Leber congenital amaurosis 5

Disease Ontology Definition:A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1.

Synonyms: LCA5

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

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

: lca5

MIM:

MIM:604537 - leber congenital amaurosis 5; lca5

MIM:604537 - leber congenital amaurosis 5; lca5

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)