loading...| Preferred Name |
familial hypercholesterolemia |
| Synonyms |
type II hyperlipidemia |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| ID |
http://purl.obolibrary.org/obo/DOID_13810 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
UMLS_CUI:C0020445 ORDO:406 ICD10CM:E78.01 OMIM:143890 NCI:C34704 MESH:D006938 SNOMEDCT_US_2022_09_01:190772003 GARD:10416 |
| definition |
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| has exact synonym |
type II hyperlipidemia familial hyperbetalipoproteinaemia Fredrickson type IIa hyperlipoproteinemia familial hypercholesteremia hyperbetalipoproteinemia Fredrickson type IIa lipidaemia |
| has_obo_namespace |
disease_ontology |
| id |
DOID:13810 |
| in_subset | |
| label |
familial hypercholesterolemia |
| notation |
DOID:13810 |
| prefLabel |
familial hypercholesterolemia |
| subClassOf |