About: familial combined hyperlipidemia

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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	Krankheit (de) Human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) maladie génétique (fr) disturbo genetico del metabolismo lipidico (it)
exact match	wds:Q2242370-238C6C66-8C36-48ED-848D-BFADA972E854 wds:Q2242370-66447D43-BE12-45C4-927B-D7E9D3DB3793 wds:Q2242370-87AD1D13-BAF3-4DF8-B584-0C8CE66B35F6
exact match	http://purl.obolibrary.org/obo/DOID_13809 http://purl.obolibrary.org/obo/HP_0008158 http://identifiers.org/doid/DOID:13809
health specialty	wds:Q2242370-18256490-011E-46DC-8D89-330A20412655 wds:Q2242370-987F22B6-4124-41AC-B12C-DD6DA6B8BB94
Mondo ID	wds:Q2242370-DC6BFE5E-6872-4055-9E45-F649E7C84D38
Disease Ontology ID	wds:Q2242370-A019B665-3010-4334-B566-30F5DCAE07E3
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0007759
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:13809
health specialty	endocrinology medical genetics
Mondo ID	MONDO_0007759
Disease Ontology ID	DOID:13809
rdfs:label	familiaire gecombineerde hyperlipidemie (nl) familial combined hyperlipidemia (en) hyperlipidémie familiale mixte (fr) iperlipidemia combinata familiare (it)
skos:prefLabel	familiaire gecombineerde hyperlipidemie (nl) familial combined hyperlipidemia (en) hyperlipidémie familiale mixte (fr) iperlipidemia combinata familiare (it)
name	familiaire gecombineerde hyperlipidemie (nl) familial combined hyperlipidemia (en) hyperlipidémie familiale mixte (fr) iperlipidemia combinata familiare (it)
instance of	wds:Q2242370-178D1594-DEA1-4B63-89A2-0B1CA21C4BD0 wds:Q2242370-3407B1F9-FF01-4DA2-9001-EE5AA25825D0
instance of	class of disease rare disease
subclass of	wds:Q2242370-73B1C021-00C7-4EE8-BE3F-57426F77B716 wds:Q2242370-7522C2EF-D522-4E0D-82FC-5D6C8705CFF6
subclass of	mixed hyperlipidemia familial hyperlipidemia
KEGG ID	wds:Q2242370-06961C93-0730-43D5-90E2-78FB90E94C02
KEGG ID	http://www.kegg.jp/entry/H00153
KEGG ID	H00153
genetic association	wds:Q2242370-26A1E7B0-57EB-46DC-96DF-20D0AA7C3202
ICD-10-CM	wds:Q2242370-12F48C26-6785-4383-8ED8-21988ADD2041
OMIM ID	wds:Q2242370-5ECA6AAD-4723-4395-B781-08678B909AD3
genetic association	LPL
ICD-10-CM	E78.4
OMIM ID	144250
Human Phenotype Ontology ID	wds:Q2242370-F65F3F4C-2C61-4DE7-981B-B38C17381422
Human Phenotype Ontology ID	HP:0008158
skos:altLabel	mixed hyperlipidemia (en) familial combined hyperlipidemia (disorder) [Ambiguous] (en) familial multiple lipoprotein-type hyperlipidemia (disorder) (en) FCHL (en) Familial Combined Hyperlipidemia (en) HYPERLIPIDEMIA, FAMILIAL COMBINED (en) HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL (en) familial combined hyperlipidemia (disorder) (en) familial multiple lipoprotein-type hyperlipidemia (en) hyperlipidémie familiale combinée (fr) mixed hyperlipidaemia (en) mixed hyperlipidemia (disorder) (en) type IIb hyperlipoproteinemia (en) hyperbetalipoproteinemia with prebetalipoproteinemia (en)
NCI Thesaurus ID	wds:Q2242370-E51EA391-9B72-4245-B7DA-DA392C019BD9
UMLS CUI	wds:Q2242370-2ABADD88-0808-49A7-804A-2703ED2D7013
MeSH descriptor ID	wds:Q2242370-14C0CDAF-E1D3-4814-B7AD-284D0440AA0D
on focus list of Wikimedia project	wds:Q2242370-2667CE12-6FF7-4E91-82AA-E8509D0B0CA6
MeSH tree code	wds:Q2242370-041d5eab-4830-4b2b-3d70-bde592e10674 wds:Q2242370-3F8EC1A9-A598-4587-9C1C-DA095DD88F4A wds:Q2242370-D714DFB0-6E84-47A4-9BA1-F990106E7CDD wds:Q2242370-F20D1FAE-0A21-4EFA-8E83-162B253BD5D1
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/D006950
MeSH tree code	http://id.nlm.nih.gov/mesh/C16.320.565.398.450 http://id.nlm.nih.gov/mesh/C18.452.584.500.500.438 http://id.nlm.nih.gov/mesh/C18.452.584.563.450 http://id.nlm.nih.gov/mesh/C18.452.648.398.450
NCI Thesaurus ID	C35637
UMLS CUI	C0020474
MeSH descriptor ID	D006950
on focus list of Wikimedia project	WikiProject Medicine
MeSH tree code	C16.320.565.398.450 C18.452.584.500.500.438 C18.452.584.563.450 C18.452.648.398.450
is owl:sameAs of	familial combined hyperlipidemia familial combined hyperlipidemia
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q2242370 https://it.wikipedia.org/wiki/Iperlipidemia_combinata_familiare https://nl.wikipedia.org/wiki/Familiaire_gecombineerde_hyperlipidemie
is main subject of	Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Identification of the PPARA locus on chromosome 22q13.3 as a modifier gene in familial combined hyperlipidemia A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity Impaired activation of adipocyte lipolysis in familial combined hyperlipidemia Low-density lipoprotein particle size loci in familial combined hyperlipidemia: evidence for multiple loci from a genome scan.

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