| Label | Id | |
|---|---|---|
| autosomal recessive hypercholesterolemia | D000090542 | |
| autosomal recessive hypercholesterolemias | D000090542 | |
| homozygous familial hypercholesterolemias | D000090542 | |
| congenital limb malformation | 19054 | |
| cutis laxa, autosomal recessive, type IIA; ARCL2A | http://purl.obolibrary.org/obo/MONDO_0009054 | |
| hypercholesterolemias, homozygous familial | D000090542 |