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Standards Ontologies Notations
familial hypercholesterolemia

Summary
Synonym
  • Fredrickson type IIa hyperlipoproteinemia
  • Fredrickson type IIa lipidaemia
  • familial hyperbetalipoproteinaemia
  • familial hypercholesteremia
  • hyperbetalipoproteinemia
  • type II hyperlipidemia
Definition
A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.
Super Class
familial hyperlipidemia
External Links
Disease Ontology
DOID:13810
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 33 of 33 in total
Gene ID Gene Symbol Description Source
23659 PLA2G15 phospholipase A2 group XV
27036 SIGLEC7 sialic acid binding Ig like lectin 7
55902 ACSS2 acyl-CoA synthetase short chain family member 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14933 Gk glycerol kinase
19662 Rbp4 retinol binding protein 4, plasma
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25703 Rbp4 retinol binding protein 4
79223 Gk glycerol kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
173747 R11F4.1 putative glycerol kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
856353 GUT1 glycerol kinase
Related Glycoprotein
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0001114 Xanthelasma
HP:0000007 Autosomal recessive inheritance
HP:0003141 Increased LDL cholesterol concentration
HP:0000006 Autosomal dominant inheritance
HP:0001677 Coronary artery atherosclerosis
HP:0010874 Tendon xanthomatosis
HP:0001084 Corneal arcus
Displaying 1 entry
Gene ID Gene Symbol Description
2053 EPHX2 epoxide hydrolase 2
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024