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Disease Ontology Browser
Leber congenital amaurosis 1 (DOID:0110078)
Alliance: disease page
Synonyms: amaurosis congenita of Leber I; LCA1
Alt IDs: OMIM:204000, ICD10CM:H35.5
Definition: A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory