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About: gelatinous drop-like corneal dystrophy     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • gelatinous drop-like corneal dystrophy
described by
id
  • DOID:0060449
created_by
  • elvira
creation_date
  • 2015-10-16T17:26:37Z
database_cross_reference
  • MESH:C535480
  • NCI:C142805
  • OMIM:204870
  • ORDO:98957
  • SNOMEDCT_US_2021_09_01:419900000
  • UMLS_CUI:C0339273
has_exact_synonym
  • GDCD (en)
  • corneal amyloidosis (en)
  • primary familial amyloidosis of the cornea (en)
  • subepithelial amyloidosis of the cornea (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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