loading...| Preferred Name |
Type I Hyperlipoproteinemia |
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| Synonyms |
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| ID |
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859302 |
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| altLabel |
Lipase D Deficiency Familial Lipoprotein Lipase Deficiency Familial Fat Induced Hypertriglyceridemia Type I Hyperlipoproteinemias LIPD Deficiency Familial Hyperchylomicronemias C-II Anapolipoproteinemia 伯格-格鲁茨综合征 家族性高乳糜微粒血症 Hyperlipoproteinemia Type I Lipase D Deficiencies Burger Grutz Syndrome Burger-Grutz Syndromes Familial Chylomicronemia 脂蛋白脂酶缺乏 Familial Hyperchylomicronemia 家族性脂蛋白脂酶缺乏症 Lipoprotein Lipase Deficiencies 载脂蛋白CⅡ缺乏 C-II Anapolipoproteinemias Familial LPL Deficiencies Familial Hyperlipoproteinemia Type 1 Lipoprotein Lipase Deficiency Familial LPL Deficiency Apolipoprotein C II Deficiency |
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| definition |
An inherited condition due to a deficiency of either LIPOPROTEIN LIPASE or APOLIPOPROTEIN C-II (a lipase-activating protein). The lack of lipase activities results in inability to remove CHYLOMICRONS and TRIGLYCERIDES from the blood which has a creamy top layer after standing. |
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| label |
高脂蛋白血症I型 Type I Hyperlipoproteinemia |
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| oboInOwl:hasDbXref | ||
| prefLabel |
Type I Hyperlipoproteinemia |
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| subClassOf |
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571342296272859283 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MEDDRA/10064612 | MEDDRA | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/MTHU047413 | OMIM | LOOM |