The new version of OLS (OLS4) will be unavailable for the next few days while we resolve deployment issues.

You can continue to browse this version of OLS, but some ontologies may be out of date.


This is just here as a test because I lose it

Term information

exactMatch
  • https://omim.org/entry/143890
  • http://identifiers.org/snomedct/398036000
has exact synonym
  • hyperlipoproteinemia, type 2A
  • hypercholesterolemia, familial
  • LDL receptor disorder
  • LDL cholesterol level QTL2
  • hyperlipoproteinemia, type 2
  • hypercholesterolemia, familial, modifier of
  • hypercholesterolemia, familial, 1
  • hypercholesterolemic xanthomatosis, familial
  • hypercholesterolemia, familial, due to ldlr defect, modifier of
  • FHCL1
has related synonym
  • FHC
  • low density lipoprotein cholesterol level quantitative trait locus 2
  • hyper-low-density-lipoproteinemia
  • hypercholesterolemia, susceptibility to
id
  • MONDO:0007750
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4882
  • https://github.com/monarch-initiative/mondo/issues/4521

Term relations