Terminology Service for NFDI4Health
hypercholesterolemia, familial, 1
Go to external page
http://purl.obolibrary.org/obo/MONDO_0007750
Term info
Label
hypercholesterolemia, familial, 1
Synonyms
- FHCL1
- LDL cholesterol level QTL2
- hypercholesterolemia, familial
- hypercholesterolemia, familial, 1
- hypercholesterolemia, familial, due to ldlr defect, modifier of
- hypercholesterolemia, familial, modifier of
- hypercholesterolemia, susceptibility to
exactMatch
http://identifiers.org/snomedct/398036000, https://omim.org/entry/143890
has related synonym
FHC, hyperlipoproteinemia, type 2A, low density lipoprotein cholesterol level quantitative trait locus 2, hyperlipoproteinemia, type 2, hypercholesterolemic xanthomatosis, familial, LDL receptor disorder, hyper-low-density-lipoproteinemia
id
MONDO:0007750
see also
https://github.com/monarch-initiative/mondo/issues/4521