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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
gelatinous drop-like corneal dystrophy
Summary
- Synonym
-
- GDCD
- corneal amyloidosis
- 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.
- Super Class
- autosomal recessive disease epithelial and subepithelial dystrophy
External Links
- Disease Ontology
- DOID:0060449
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19440 | Glutathione hydrolase 1 proenzyme |
