OBO ID: DOID:0060456
Term Name: Schnyder corneal dystrophy Search Ontology:
Synonyms:
  • corneal dystrophy crystalline of Schnyder
  • crystalline stromal dystrophy
  • hereditary crystalline stromal dystrophy of Schnyder
  • SCCD
  • Schnyder crystalline corneal dystrophy
Definition: A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. https://pubmed.ncbi.nlm.nih.gov/23169578/
References:
Ontology: Human Disease   ( DOID:0060456 )
OTHER Schnyder corneal dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UBIAD1 Corneal dystrophy, Schnyder type 121800
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None