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 night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. (DO)
Synonyms:
exact_synonym:
EARLY-ONSET RETINAL DYSTROPHY; LCA2; Leber congenital amaurosis type 2; Leber congenital amaurosis type II; amaurosis congenita of Leber II
ClinVar Annotator: match by term: Leber congenital amaurosis 2 ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER II ClinVar Annotator: match by OMIM:204100 DNA:nonsense mutation:cds:p.R44X (mouse) human gene in mouse model DNA:missense mutation:cds:p.R91W (mouse)