Leber congenital amaurosis 13

Summary

DOID:0110330 - Leber congenital amaurosis 13

Disease Ontology Definition:A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3.

Synonyms: LCA13,

Xenbase 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

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Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012990 - Leber congenital amaurosis 13

MONDO:0012990 - Leber congenital amaurosis 13

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 dominant disease (is_a), autosomal recessive disease (is_a)