About: homozygous familial hypercholesterolemia

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

human disease

Attributes	Values
rdf:type	Item
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q15815863-AF3BDAE1-4291-47E2-BEB2-01F231B24F75
exact match	http://www.orpha.net/ORDO/Orphanet_391665
Mondo ID	wds:Q15815863-60ADF07D-6766-41B6-A50C-12A90C985A51
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0018328
Mondo ID	MONDO_0018328
rdfs:label	Homozygote familiäre Hypercholesterinämie (de) homozygous familial hypercholesterolemia (en) hypercholestérolémie familiale homozygote (fr)
skos:prefLabel	Homozygote familiäre Hypercholesterinämie (de) homozygous familial hypercholesterolemia (en) hypercholestérolémie familiale homozygote (fr)
name	Homozygote familiäre Hypercholesterinämie (de) homozygous familial hypercholesterolemia (en) hypercholestérolémie familiale homozygote (fr)
instance of	wds:Q15815863-4B2124CA-4685-42DC-86ED-E73BE34F5E17 wds:Q15815863-F9E23D84-FD8F-4748-A0EF-9CDD52CD20F1
instance of	class of disease designated intractable/rare disease
subclass of	wds:Q15815863-B72D9A41-893A-48BB-B854-8967BE36B836
subclass of	familial hypercholesterolemia
Google Knowledge Graph ID	wds:Q15815863-3D6960BE-AA09-4FED-B04C-7892FB146AEA
Google Knowledge Graph ID	http://g.co/kg/g/1ym_k_c84
Google Knowledge Graph ID	/g/1ym_k_c84
Orphanet ID	wds:Q15815863-F3D2EE70-44CE-4BCC-B031-0D9179064A85
genetic association	wds:Q15815863-F680B8FA-4658-4289-A56B-3404735B1D5D
ICD-10-CM	wds:Q15815863-9F167811-7514-4701-AA32-07C7B47E28EC
Orphanet ID	391665
genetic association	LDLRAP1
ICD-10-CM	E78.0
skos:altLabel	HoFH (en)
external data available at URL	wds:Q15815863-09E4BCFD-BFFB-4866-B36D-1A4190FD6EAA
UMLS CUI	wds:Q15815863-323986B7-4170-48BD-A9C7-C50F246ED7DF
MeSH descriptor ID	wds:Q15815863-acc2b4fa-4879-4ab5-f548-89c3c0f9a3aa
MeSH tree code	wds:Q15815863-4562f0c6-4289-95e6-e254-ebd904a08990 wds:Q15815863-c1f31a6f-47e9-3254-e38a-1924788efb46 wds:Q15815863-d2ca906b-45ac-eae1-f79c-7c7c12b3aab7 wds:Q15815863-d6022896-4013-1779-f7da-1a9bda38c448
ICD-11 (foundation)	wds:Q15815863-ABA864B3-8C97-4E69-AE42-4E9422FC04FE
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D000090542
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.320.565.398.481.500 http://id.nlm.nih.gov/mesh/C18.452.584.500.500.644.475.500 http://id.nlm.nih.gov/mesh/C18.452.584.563.481.500 http://id.nlm.nih.gov/mesh/C18.452.648.398.481.500
external data available at URL	http://www.nanbyou.or.jp/entry/65
UMLS CUI	C0342881
MeSH descriptor ID	D000090542
MeSH tree code	C16.320.565.398.481.500 C18.452.584.500.500.644.475.500 C18.452.584.563.481.500 C18.452.648.398.481.500
ICD-11 (foundation)	1525871199
is owl:sameAs of	homozygous familial hypercholesterolemia homozygous familial hypercholesterolemia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q15815863 https://de.wikipedia.org/wiki/Homozygote_famili%C3%A4re_Hypercholesterin%C3%A4mie
is main subject of	The impact of severe LDL receptor mutations on SREBP-pathway regulation in homozygous familial hypercholesterolemia (FH) Localization of urinary lactosylceramide in cytoplasmic vesicles of renal tubular cells in homozygous familial hypercholesterolemia Pregnancy in a woman with homozygous familial hypercholesterolemia not on low-density lipoprotein apheresis Use of microsomal triglyceride transfer protein inhibitors in patients with homozygous familial hypercholesterolemia: translating clinical trial experience into clinical practice Evaluation of the aortic root by MRI: insights from patients with homozygous familial hypercholesterolemia Statins in homozygous familial hypercholesterolemia Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia Elevated PCSK9 levels in untreated patients with heterozygous or homozygous familial hypercholesterolemia and the response to high-dose statin therapy Surgical strategies for severe calcification of the aorta (porcelain aorta) in two patients with homozygous familial hypercholesterolemia Homozygous familial hypercholesterolemia: current perspectives on diagnosis and treatment Low density lipoprotein apheresis in pediatric patients with homozygous familial hypercholesterolemia Impact of the characteristics of patients and their clinical management on outcomes in children with homozygous familial hypercholesterolemia Non-invasive detection of aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia by 64 slice multi-detector row computed tomography angiography. Sudden Death in a 4-Year-Old Boy: A Near-Complete Occlusion of the Coronary Artery Caused by an Aggressive Low-Density Lipoprotein Receptor Mutation (W556R) in Homozygous Familial Hypercholesterolemia Relation of cholesterol-year score to severity of calcific atherosclerosis and tissue deposition in homozygous familial hypercholesterolemia Aortic root involvement in homozygous familial hypercholesterolemia--transesophageal echocardiographic appearances of supravalvular aortic stenosis Liver transplantation as a treatment option for three siblings with homozygous familial hypercholesterolemia Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes. Comparison of cells from normal subjects and patients with homozygous familial hypercholesterolemia and abetalipoproteinemia Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia Mipomersen and lomitapide: Two new drugs for the treatment of homozygous familial hypercholesterolemia Reduction in mortality in subjects with homozygous familial hypercholesterolemia associated with advances in lipid-lowering therapy Degradation of cationized low density lipoprotein and regulation of cholesterol metabolism in homozygous familial hypercholesterolemia fibroblasts Composition of atherosclerotic plaques in the coronary arteries in homozygous familial hypercholesterolemia Cardiovascular features of homozygous familial hypercholesterolemia: Analysis of 16 patients Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. Effect of the proprotein convertase subtilisin/kexin 9 monoclonal antibody, AMG 145, in homozygous familial hypercholesterolemia Apolipoprotein B metabolism in homozygous familial hypercholesterolemia Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia Efficacy and safety of ezetimibe coadministered with atorvastatin or simvastatin in patients with homozygous familial hypercholesterolemia The effect of ezetimibe on serum lipids and lipoproteins in patients with homozygous familial hypercholesterolemia undergoing LDL-apheresis therapy Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia. Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia Continuous flow plasma exchange in the treatment of homozygous familial hypercholesterolemia Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: Lack of effect on low-density lipoprotein concentrations or turnover

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