has material basis in germline mutation in LDLRAP1 familial hypercholesterolemia hypercholesterolemia, familial, 4 https://github.com/monarch-initiative/mondo/issues/10711 https://www.malacards.org/card/hypercholesterolemia_familial_4 OMIM:603813 DOID:0090105 NCIT:C128114 MESH:C566331 FHCB1 autosomal recessive hypercholesterolemia 1 MEDGEN:400313 autosomal recessive hypercholesterolemia 2 MONDO:0011374 FHCB2 hypercholesterolemia, autosomal recessive UMLS:C1863512 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. GARD:0018614 ARH2 ARH1 ARH hypercholesterolemia, autosomal recessive, 1 hypercholesterolemia, autosomal recessive, 2 homozygous familial hypercholesterolemia