← all disease traces
Familial hypercholesterolemia
LDLROMIM 143890do(hepatic_ldl_receptor_activity ↓)
loss-of-function of the hepatic LDL receptor -> reduced LDL clearance (Brown-Goldstein).
plasma LDL-cholesterol concentration ↑HPO: HypercholesterolemiaHP:0003124
comparative-statics (steady-state) net: ↑
hepatic LDL-receptor (LDLR) surface activity ↓ →(-) plasma LDL-cholesterol concentration ↑
↑ increased ↓ decreased ? magnitude-dependent (SCC). →(+) positive edge, →(−) negative, ▷ cross-scale constitutive lift. Endophenotypes are real HPO directional terms. Draft for domain review.