loading...| Preferred Name |
Hyperlipoproteinemia Type I |
|
| Synonyms |
Lipoprotein Lipase Deficiency, Familial |
|
| 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 |
Lipoprotein Lipase Deficiency, Familial Chylomicronemia, Familial Anapolipoproteinemia, C-II Chylomicronemias, Familial Lipase D Deficiency Essential Familial Hyperlipemias Familial Lipoprotein Lipase Deficiency Hyperlipoproteinemia, Type Ia Hyperlipemia, Idiopathic, Burger-Grutz Type Hyperlipemias, Essential Familial Familial Fat Induced Hypertriglyceridemia Type I Hyperlipoproteinemias LIPD Deficiency Hyperlipoproteinemia Type Is Hyperchylomicronemias, Familial Familial Hyperchylomicronemias Type Ib Hyperlipoproteinemias Hyperlipoproteinemia, Type I Deficiency, Lipoprotein Lipase Syndrome, Burger-Grutz Familial Hyperlipemias, Essential Apolipoprotein C-II Deficiency C-II Anapolipoproteinemia Deficiencies, LIPD Deficiency, Lipase D Hypertriglyceridemias, Familial Fat-Induced Syndromes, Burger-Grutz Lipase Deficiencies, Lipoprotein Essential Familial Hyperlipemia Familial Chylomicronemias Hyperlipoproteinemia Type Ib LIPD Deficiencies Deficiencies, Lipase D Deficiency, Familial LPL Hyperlipoproteinemias, Type Ib Lipase D Deficiencies Deficiency, LIPD Deficiencies, Apolipoprotein C-II Burger Grutz Syndrome Anapolipoproteinemias, C-II Burger-Grutz Syndromes Hyperlipemia, Essential Familial Familial Chylomicronemia Familial Hyperchylomicronemia Deficiencies, Familial LPL Hyperlipoproteinemias, Type I Deficiencies, Lipoprotein Lipase Deficiency, Apolipoprotein C-II Type Ia Hyperlipoproteinemia Hyperchylomicronemia, Familial Hyperlipoproteinemia Type Ia Burger-Grutz Syndrome Familial Fat-Induced Hypertriglyceridemias Lipoprotein Lipase Deficiencies Type Ia Hyperlipoproteinemias Fat-Induced Hypertriglyceridemia, Familial LPL Deficiency, Familial Familial Hyperlipemia, Essential Hyperlipoproteinemia Type Ias C-II Anapolipoproteinemias Hyperlipoproteinemias, Type Ia Familial LPL Deficiencies Familial Hyperlipoproteinemia Type 1 Fat-Induced Hypertriglyceridemias, Familial Hypertriglyceridemia, Familial Fat-Induced Type Ib Hyperlipoproteinemia Type I Hyperlipoproteinemia Familial Fat-Induced Hypertriglyceridemia Lipoprotein Lipase Deficiency Hyperlipoproteinemia Type Ibs Familial LPL Deficiency Apolipoprotein C II Deficiency Hyperlipoproteinemia, Type Ib LPL Deficiencies, Familial Apolipoprotein C-II Deficiencies |
|
| 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 |
D008071 D053304 |
|
| HN |
2007 (1980) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2007; see LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL 1991-2006, see HYPERLIPOPROTEINEMIA 1980-1990 |
|
| Mapped from | ||
| MDA |
19790423 |
|
| MMR |
20210630 |
|
| MN |
C18.452.648.398.465 C18.452.584.500.500.644.237 C18.452.584.563.465 C16.320.565.398.465 |
|
| notation |
D008072 |
|
| prefLabel |
Hyperlipoproteinemia Type I |
|
| TERMUI |
T812603 T812595 T823066 T811714 T841405 T811709 T024065 T024066 T645951 T811712 T823068 T811710 T844337 T645952 T750950 T645953 T024064 T841404 T645954 T024067 T844338 T812596 |
|
| TH |
OMIM (2013) UNK (19XX) NLM (2010) GHR (2014) NLM (2007) NLM (1980) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |