loading...| Preferred Name |
familial hyperlipoproteinemia type I |
|
| Synonyms |
familial lipoprotein lipase deficiency |
|
| Definitions |
rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-4577 |
|
| altLabel |
familial lipoprotein lipase deficiency idiopathic hyperlipemia familial fat induced hyperlipemia familial hyperchylomicronemia Burger Grutz syndrome |
|
| cui |
C0598427 C0023817 C0598426 |
|
| definition |
rare familial condition characterized by massive chylomicronemia and decreased levels of other lipoproteins; due to deficiency of lipoprotein lipase, an alkaline triglyceride hydrolase which catalyzes an important step in the extrahepatic removal of triglyceride-rich lipoproteins from the blood. |
|
| DID |
1849-4577 |
|
| Inverse of RB | ||
| notation |
1849-4577 |
|
| prefLabel |
familial hyperlipoproteinemia type I |
|
| tui |
T047 |
|
| subClassOf |