|
DOID:0060449 - gelatinous drop-like corneal dystrophy
Disease Ontology Definition: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.
Synonyms: GDCD, corneal amyloidosis, primary familial amyloidosis of the cornea, subepithelial amyloidosis of the cornea,
Xenbase Genes :
MONDO:0008777 - gelatinous drop-like corneal dystrophy |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee