|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency. (Orphanet Rare Disease Ontology, Orphanet_79292)|
|Downloads & Tools|
1 genes associated with the Fish-eye disease phenotype from the curated ClinVar Gene-Phenotype Associations dataset.