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rdf:type |
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calbc:hasCorrelation |
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skos:exactMatch |
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skos:definition |
CSP: 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.,MSH: 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.,NCI: A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.
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skos:inScheme |
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skos:broader |
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skos:narrower |
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skos-xl:prefLabel |
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skos-xl:altLabel |
umls-label:A0058053,
umls-label:A0070661,
umls-label:A0070662,
umls-label:A0318940,
umls-label:A0393838,
umls-label:A0408831,
umls-label:A0411922,
umls-label:A0419360,
umls-label:A0419362,
umls-label:A0419372,
umls-label:A0419379,
umls-label:A10900655,
umls-label:A10900703,
umls-label:A11931577,
umls-label:A11945959,
umls-label:A11960345,
umls-label:A11988992,
umls-label:A11988993,
umls-label:A12017413,
umls-label:A12031899,
umls-label:A1304155,
umls-label:A1305423,
umls-label:A1306326,
umls-label:A17002704,
umls-label:A17683469,
umls-label:A17893663,
umls-label:A18061830,
umls-label:A18437197,
umls-label:A18439525,
umls-label:A18446728,
umls-label:A18555369,
umls-label:A18555370,
umls-label:A18570602,
umls-label:A18592457,
umls-label:A18611072,
umls-label:A18626392,
umls-label:A18666882,
umls-label:A18666883,
umls-label:A1925242,
umls-label:A20901432,
umls-label:A20901433,
umls-label:A20901434,
umls-label:A20903294,
umls-label:A20903295,
umls-label:A20905223,
umls-label:A20907137,
umls-label:A20907138,
umls-label:A20909060,
umls-label:A20909061,
umls-label:A20909062,
umls-label:A20910891,
umls-label:A20910892,
umls-label:A20910893,
umls-label:A20912747,
umls-label:A20912748,
umls-label:A20912749,
umls-label:A20912750,
umls-label:A20914609,
umls-label:A20914610,
umls-label:A8339940,
umls-label:A8353781,
umls-label:A8373954,
umls-label:A8375528,
umls-label:A8375927
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umls:relation |
http://linkedlifedata.com/resource/umls/relation/R111754017,
http://linkedlifedata.com/resource/umls/relation/R111754022,
http://linkedlifedata.com/resource/umls/relation/R05669421,
http://linkedlifedata.com/resource/umls/relation/R05669422,
http://linkedlifedata.com/resource/umls/relation/R00890402,
http://linkedlifedata.com/resource/umls/relation/R00890403,
http://linkedlifedata.com/resource/umls/relation/R43984347,
http://linkedlifedata.com/resource/umls/relation/R43984348,
http://linkedlifedata.com/resource/umls/relation/R43984350,
http://linkedlifedata.com/resource/umls/relation/R43984349,
http://linkedlifedata.com/resource/umls/relation/R43984351,
http://linkedlifedata.com/resource/umls/relation/R44004610,
http://linkedlifedata.com/resource/umls/relation/R05691964,
http://linkedlifedata.com/resource/umls/relation/R05691960,
http://linkedlifedata.com/resource/umls/relation/R05691961,
http://linkedlifedata.com/resource/umls/relation/R05691955,
http://linkedlifedata.com/resource/umls/relation/R05691977,
http://linkedlifedata.com/resource/umls/relation/R05691963,
http://linkedlifedata.com/resource/umls/relation/R05691965
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