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.
An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO)
Synonyms:
exact_synonym:
CDGDL; Corneal amyloidosis; GDCD; GDLD; amyloid corneal dystrophy, Japanese type; lattice corneal dystrophy type III; lattice corneal dystrophy type3; lattice corneal dystrophy, type 3; primary familial amyloidosis of the cornea; subepithelial amyloidosis of the cornea