loading...| Preferred Name |
Hyperlipoproteinemia Type I |
| Synonyms |
Familial LPL Deficiency |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D008072 |
| altLabel |
Familial LPL Deficiency Familial Fat-Induced Hypertriglyceridemia Deficiency, Lipase D Deficiencies, Lipase D Deficiency, Apolipoprotein C-II Type Ia Hyperlipoproteinemias LIPD Deficiency Hyperchylomicronemias, Familial Apolipoprotein C-II Deficiencies Apolipoprotein C II Deficiency LPL Deficiencies, Familial Chylomicronemias, Familial LPL Deficiency, Familial Familial Hyperlipemias, Essential Lipoprotein Lipase Deficiency Deficiencies, Familial LPL Deficiencies, Apolipoprotein C-II Type I Hyperlipoproteinemia Hyperlipoproteinemias, Type I Familial Chylomicronemia Burger-Grutz Syndromes C-II Anapolipoproteinemias Familial Hyperlipoproteinemia Type 1 Familial Lipoprotein Lipase Deficiency C-II Anapolipoproteinemia Lipase Deficiencies, Lipoprotein Hyperlipoproteinemia, Type Ib Deficiencies, LIPD Hyperlipoproteinemia Type Is Hyperchylomicronemia, Familial Familial Hyperchylomicronemias Anapolipoproteinemia, C-II Hyperlipemia, Idiopathic, Burger-Grutz Type Syndromes, Burger-Grutz Deficiency, Lipoprotein Lipase Hypertriglyceridemia, Familial Fat-Induced Type I Hyperlipoproteinemias Hyperlipoproteinemias, Type Ib Chylomicronemia, Familial Hyperlipoproteinemias, Type Ia Hyperlipoproteinemia, Type Ia Lipoprotein Lipase Deficiency, Familial Syndrome, Burger-Grutz Hyperlipoproteinemia, Type I Type Ib Hyperlipoproteinemia Essential Familial Hyperlipemia Familial LPL Deficiencies Essential Familial Hyperlipemias Deficiency, LIPD Familial Hyperlipemia, Essential Lipoprotein Lipase Deficiencies Fat-Induced Hypertriglyceridemia, Familial Anapolipoproteinemias, C-II Hyperlipemias, Essential Familial LIPD Deficiencies Familial Chylomicronemias Deficiency, Familial LPL Lipase D Deficiency Fat-Induced Hypertriglyceridemias, Familial Apolipoprotein C-II Deficiency Type Ia Hyperlipoproteinemia Familial Fat-Induced Hypertriglyceridemias Familial Fat Induced Hypertriglyceridemia Familial Hyperchylomicronemia Hyperlipoproteinemia Type Ibs Deficiencies, Lipoprotein Lipase Lipase D Deficiencies Hyperlipoproteinemia Type Ias Hyperlipoproteinemia Type Ib Type Ib Hyperlipoproteinemias Burger Grutz Syndrome Hypertriglyceridemias, Familial Fat-Induced Hyperlipoproteinemia Type Ia Hyperlipemia, Essential Familial Burger-Grutz Syndrome |
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
| cui |
C0023817 C1720779 |
| DC |
1 |
| 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. |
| DX |
19910101 |
| FX |
D053304 D008071 |
| HN |
2007 (1980) |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D006950 http://purl.bioontology.org/ontology/MESH/D056889 http://purl.bioontology.org/ontology/MESH/D006938 http://purl.bioontology.org/ontology/MESH/D052497 http://purl.bioontology.org/ontology/MESH/D019294 http://purl.bioontology.org/ontology/MESH/D019082 http://purl.bioontology.org/ontology/MESH/D006952 http://purl.bioontology.org/ontology/MESH/D006954 http://purl.bioontology.org/ontology/MESH/D008064 |
| Machine permutation |
2007; see LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL 1991-2006, see HYPERLIPOPROTEINEMIA 1980-1990 |
| Mapped from | |
| MDA |
19790423 |
| MMR |
20130708 |
| MN |
C16.320.565.398.465 C18.452.648.398.465 C18.452.584.500.500.644.237 |
| notation |
D008072 |
| prefLabel |
Hyperlipoproteinemia Type I |
| TERMUI |
T812596 T823068 T750950 T841404 T812603 T645953 T024066 T645951 T811709 T823066 T024067 T811710 T844338 T811714 T024064 T811712 T812595 T841405 T024065 T844337 T645954 T645952 |
| TH |
NLM (1980) UNK (19XX) NLM (2010) NLM (2007) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |