OBO ID: DOID:0060449
Term Name: gelatinous drop-like corneal dystrophy Search Ontology:
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)
OTHER gelatinous drop-like corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TACSTD2 Corneal dystrophy, gelatinous drop-like 204870
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None