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hypercholesterolemia, familial, 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
Uniprot Description A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very-low-density lipoproteins.
Mondo Term and Equivalent IDs
MONDO:0011374:  hypercholesterolemia, familial, 4
MESH:C566331: 
NCIT:C128114: 
UMLS:C1863512: