Term Name: | gelatinous drop-like corneal dystrophy |
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Synonyms: | corneal amyloidosis, GDCD, primary familial amyloidosis of the cornea, subepithelial amyloidosis of the cornea |
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. |
Ontology: | Human Disease [DOID:0060449] ( DOID:0060449 ) |