| CUI | Disease | Vocabulary | Name in Vocabulary | Code |
|---|---|---|---|---|
| C0342881 | Familial hypercholesterolemia - homozygous | DO | autosomal recessive hypercholesterolemia | 0090105 |
| C0342881 | Familial hypercholesterolemia - homozygous | MONDO | autosomal recessive hypercholesterolemia | 0011374 |
| C0342881 | Familial hypercholesterolemia - homozygous | MONDO | homozygous familial hypercholesterolemia | 0018328 |
| C0342881 | Familial hypercholesterolemia - homozygous | ORDO | Homozygous familial hypercholesterolemia | 391665 |