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Disease Ontology Browser
gelatinous drop-like corneal dystrophy (DOID:0060449)
Alliance: disease page
Synonyms: corneal amyloidosis; GDCD; primary familial amyloidosis of the cornea; subepithelial amyloidosis of the cornea
Alt IDs: OMIM:204870, MESH:C535480, NCI:C142805, ORDO:98957, UMLS_CUI:C0339273
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory