About: Meesmann Corneal Dystrophy     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Meesmann Corneal Dystrophy
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Meesmann Corneal Dystrophy
UMLS_CUI
  • C0339277
FULL_SYN
  • Meesmann Corneal DystrophyPTNCI
  • Juvenile Epithelial of Meesmann Corneal DystrophySYNCI
DEFINITION
  • An autosomal dominant inherited corneal disorder caused by mutations in the KRT3 and KRT12 genes. It is characterized by the formation of multiple tiny cysts in the epithelial layer of the cornea. The cysts may rupture, causing pain, redness and light sensitivity. Vision usually is not affected.NCI
code
  • C84795
http://linked.open...y/mesh/hasConcept
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