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 a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)
Synonyms:
exact_synonym:
LCA4; Leber congenital amaurosis, type 4; amaurosis congenita of Leber, 4
CTD Direct Evidence: marker/mechanism OMIM:604393 ClinVar Annotator: match by term: AIPL1-Related Disorders | ClinVar Annotator: match by term: AIPL1-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 4