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DO Term : gelatinous drop-like corneal dystrophy [DOID:0060449] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MESH:C535480,
  • primary familial amyloidosis of the cornea,
  • GDCD,
  • NCI:C142805,
  • ORDO:98957,
  • SNOMEDCT_US_2023_03_01:419900000,
  • 204870,
  • UMLS_CUI:C0339273,
  • subepithelial amyloidosis of the cornea,
  • OMIM:204870,
  • corneal amyloidosis
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