| Metadata | |
|---|---|
| ID | DOID:0060449 |
| Name | gelatinous drop-like corneal dystrophy |
| 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. https://pubmed.ncbi.nlm.nih.gov/10192395/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:419900000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
corneal amyloidosis [EXACT] GDCD [EXACT] primary familial amyloidosis of the cornea [EXACT] subepithelial amyloidosis of the cornea [EXACT] |
| Parent Relationships |