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 congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)
Synonyms:
exact_synonym:
CONGENITAL STATIONARY NIGHT BLINDNESS, TYPE 1D; CSNB, COMPLETE, AUTOSOMAL RECESSIVE; CSNB1D; congenital stationary night blindness 1D autosomal recessive