loading...| Preferred Name |
Hyperlipoproteinemia Type II |
| Synonyms |
Lipoproteinemias, Hyper-Low Density |
| Definitions |
Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis. |
| ID |
http://purl.bioontology.org/ontology/MESH/D006938 |
| altLabel |
Lipoproteinemias, Hyper-Low Density Apolipoprotein B 100, Familial Defective Hyperlipoproteinemia, Type II Hyperlipoproteinemias, Type II Type IIa Hyperlipoproteinemia Familial Hypercholesterolemic Xanthomatoses Hyperlipoproteinemia Type IIs Hyperlipoproteinemia Type IIa Xanthomatoses, Familial Hypercholesterolemic Xanthomatosis, Familial Hypercholesterolemic Hyperbetalipoproteinemia LDL Receptor Disorder Hyperlipoproteinemias, Type IIa Type II Hyperlipoproteinemia Type IIa Hyperlipoproteinemias Disorder, LDL Receptor Hyperlipoproteinemia, Familial Combined Apolipoprotein B-100, Familial Ligand-Defective Hyper-beta-Lipoproteinemia Essential Hypercholesterolemias Hyper-Low Density Lipoproteinemia Hyper-Low-Density-Lipoproteinemias Hyper Low Density Lipoproteinemia Hypercholesterolemia, Familial Hyper-Low-Density-Lipoproteinemia Familial Hypercholesterolemia Familial Hypercholesterolemic Xanthomatosis Hyperlipoproteinemia, Type IIa Hypercholesterolemia, Essential Type 2, Hyperlipoproteinemia Type II Hyperlipoproteinemias Dominant Hypercholesterolemias, Autosomal Hyperlipoproteinemia Type IIbs Hypercholesterolemias, Autosomal Dominant Hyperlipoproteinemia Type 2s Hypercholesterolemia, Autosomal Dominant Dominant Hypercholesterolemia, Autosomal Density Lipoproteinemias, Hyper-Low Hypercholesterolemia, Autosomal Dominant, Type B Autosomal Dominant Hypercholesterolemia Hypercholesterolemias, Essential Combined Hyperlipoproteinemia, Familial LDL Receptor Disorders Essential Hypercholesterolemia Receptor Disorders, LDL Hyperbetalipoproteinemias Hyper-beta-Lipoproteinemias Hyperlipoproteinemias, Familial Combined Apolipoprotein B-100, Familial Defective Lipoproteinemia, Hyper-Low Density Hyperlipoproteinemia Type IIas Combined Hyperlipoproteinemias, Familial Familial Combined Hyperlipoproteinemias Hyper-Low Density Lipoproteinemias Hyperlipoproteinemia Type 2 Apolipoprotein B 100, Familial Ligand Defective Disorders, LDL Receptor Autosomal Dominant Hypercholesterolemias Familial Combined Hyperlipoproteinemia Familial Hypercholesterolemias Receptor Disorder, LDL Hypercholesterolemic Xanthomatoses, Familial Density Lipoproteinemia, Hyper-Low Hyper beta Lipoproteinemia Hypercholesterolemias, Familial Hypercholesterolemic Xanthomatosis, Familial Hyperlipoproteinemia Type IIb |
| 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 |
C1704417 C0745103 C0020445 |
| DC |
1 |
| definition |
Hypercholesterolemia that is caused by mutation in the LOW DENSITY LIPOPROTEIN RECEPTOR gene. This receptor defect prevents LDL binding to the cell membrane and uptake of cholesterol which normally suppresses further cholesterol synthesis. A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). Type IIb hyperlipoproteinemia is caused by mutation in the receptor-binding domain of APOLIPOPROTEIN B-100 which is a major component of LOW-DENSITY LIPOPROTEINS and VERY-LOW-DENSITY LIPOPROTEINS resulting in reduced clearance of these lipoproteins. It is characterized by both hypercholesterolemia and HYPERTRIGLYCERIDEMIA (combined hyperlipidemia). |
| DX |
19800101 |
| 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/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/D008072 http://purl.bioontology.org/ontology/MESH/D006954 http://purl.bioontology.org/ontology/MESH/D008064 |
| Machine permutation |
2007; see HYPERCHOLESTEROLEMIA, FAMILIAL 1980-2007 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538646 |
| MDA |
19790423 |
| MMR |
20130709 |
| MN |
C18.452.584.500.500.644.475 C16.320.565.398.481 C18.452.648.398.481 |
| notation |
D006938 |
| prefLabel |
Hyperlipoproteinemia Type II |
| TERMUI |
T645975 T751032 T751031 T646570 T645977 T824592 T811644 T645974 T645976 T645972 T020860 T824593 T751033 T020859 T020862 T812589 T645973 T020861 T811643 |
| TH |
NLM (1980) UNK (19XX) NLM (2010) NLM (2007) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |