RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
LCA5; LCA5-RELATED CONDITION; LCA5-RELATED RETINOPATHY; Leber congenital amaurosis, type 5
OMIM:604537 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: LCA5-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 5