| GTO ID(s) | GTC2180 | GTC1383 | GTC1927 | GTC0072 | GTC0036 | GTC2638 | GTC0357 | GTC0059 | GTC1423 | GTC3054 | GTC1171 | GTC0696 | GTC0554 | GTC0537 | GTC2598 | GTC0619 | GTC1340 | GTC2233 | GTC3899 | GTC0286 | GTC0470 | GTC1388 | GTC0061 | GTC1376 | GTC0051 | GTC0128 | GTC1672 | GTC1354 | GTC1256 | GTC3786 | GTC0066 | GTC3687 | GTC0063 | GTC1243 | GTC0410 | GTC1349 | GTC0641 | GTC3649 | GTC2790 | GTC0539 | GTC0277 |
| Disease Name | Familial Hypercholesterolemia |
| Synonyms | familial hypercholesterolemia, hyperbetalipoproteinemia, (pure) hypercholesterolemia nos, fredrickson's hyperlipoproteinemia, type iia, hyperlipoproteinemia type ii, hypercholesterolemia, familial, hyperlipoproteinemia type iia, hyperlipoproteinemia type iib, type ii hyperlipidemia |
| Definition | DO:A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| Xref | DO:13810 | MESH:D006938 | MIM:143890 | NCI:C34704 | EFO:0004911 | GARD:10416 | MONDO:0005439 | MSH:D006938 | ORDO:406 | SNOMEDCT_US_2023_03_01:190772003 | UMLS_CUI:C0020445 |
| Disease Group | Genetic Disease |