Search Ontology:
Human Disease

Schnyder corneal dystrophy

Term ID
DOID:0060456
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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