Homozygous familial hypercholesterolemia (receptor-negative type). Repository identification No. GM-361.
D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics* / Q000378:metabolism; D008077:Lipoproteins, LDL / Q000378:metabolism; D009154:Mutation
D008077:Lipoproteins, LDL