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 or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)
Synonyms:
exact_synonym:
CSNB, COMPLETE, AUTOSOMAL RECESSIVE; CSNB1E; congenital stationary night blindness 1E autosomal recessive; congenital stationary night blindness, type 1E