Search Ontology:
Human Disease

gelatinous drop-like corneal dystrophy

Term ID
DOID:0060449
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. https://pubmed.ncbi.nlm.nih.gov/10192395/
References
Ontology
Human Disease   ( DOID:0060449 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models