About: lipase deficiency, combined

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

rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders

Attributes	Values
rdf:type	Item
description	rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders (en)
Mondo ID	wds:Q55782044-C9E357C5-A77A-4E69-B389-FB2AF2D7F6A0
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009527
Mondo ID	MONDO_0009527
rdfs:label	lipase deficiency, combined (en)
skos:prefLabel	lipase deficiency, combined (en)
name	lipase deficiency, combined (en)
instance of	wds:Q55782044-22429297-624D-4035-94FE-BDC896651B96 wds:Q55782044-F12FFB33-FD15-4C6A-B31E-D17FAA23E017
instance of	rare disease disease
subclass of	wds:Q55782044-FD13065B-10AB-44D7-ABDB-0BB1EB7001CD
subclass of	genetic disease
KEGG ID	wds:Q55782044-B5829BFA-5D19-414C-9D47-187412A7FCC1
KEGG ID	http://www.kegg.jp/entry/H01101
KEGG ID	H01101
UniProt disease ID	wds:Q55782044-cf7626a6-4d63-bd08-1b1c-a1c8214c795a
genetic association	wds:Q55782044-B7892609-2D6F-4F0E-B9BE-CF72FE7DD180
GARD rare disease ID	wds:Q55782044-394F830B-4A2D-4E69-AF31-91E7308C351F
OMIM ID	wds:Q55782044-E3396EAD-6F4A-4746-8835-56BC014E07CD
UniProt disease ID	DI-01363
genetic association	LMF1
GARD rare disease ID	10244
OMIM ID	246650
skos:altLabel	Combined Lipase Deficiency (en) LIPASE DEFICIENCY, COMBINED (en) Lipase deficiency combined (en) Lpl and Hl Deficiency (en) Lpl and Htgl Deficiency (en) Lipoprotein Lipase Deficiency With Hepatic Triglyceride Lipase Deficiency (en)
NCI Thesaurus ID	wds:Q55782044-C206D146-401C-4BC6-A61C-642E233FD6ED
UMLS CUI	wds:Q55782044-F5DEADBB-B362-4BEE-9E24-CBDFC2D123DC
MeSH descriptor ID	wds:Q55782044-DDDDDCD6-ACC0-41A4-BF73-EEBD5E316DA2
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C535904
NCI Thesaurus ID	C126558
UMLS CUI	C1855498
MeSH descriptor ID	C535904
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55782044
is main subject of	Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia Differential effect of combined lipase deficiency (cld/cld) on human hepatic lipase and lipoprotein lipase secretion Combined lipase deficiency (cld/cld) in mice. Demonstration that an inactive form of lipoprotein lipase is synthesized Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion Combined lipase deficiency (cld/cld) in mice affects differently post-translational processing of lipoprotein lipase, hepatic lipase and pancreatic lipase. Combined lipase deficiency (cld): a lethal mutation on chromosome 17 of the mouse Effect of combined lipase deficiency (cld/cld) on hepatic and lipoprotein lipase activities in liver and plasma of newborn mice Lipoprotein lipase mRNA in neonatal and adult mouse tissues: comparison of normal and combined lipase deficiency (cld) mice assessed by in situ hybridization. Effect of the combined lipase deficiency mutation (cld/cld) on ultrastructure of tissues in mice. Diaphragm, heart, brown adipose tissue, lung, and liver
is main subject of	wds:Q28509657-B3CFD581-D978-4D4E-ABCA-1F09B2AB4636 wds:Q69596948-2642ABD0-267F-4090-9155-BA1512195943 wds:Q28511113-1B3CCAF1-A2BB-4303-9115-B12954C900CB wds:Q28512877-95FADB46-F152-4975-90F7-F11CED7099CE wds:Q43516946-2E6B2CF7-F1AC-4A99-A456-54ABBA8BAF6F wds:Q52185010-25F033AD-7FA1-4233-A47C-9D5F178CAD7C wds:Q28590447-B2718828-5ECE-42B5-A2D0-4C6B38BB5C46 wds:Q28118749-4DABF348-913B-45DE-BDFD-EC972EC42900 wds:Q44242670-4A2ADB82-DC3B-4EB1-B6FC-566AA5B3B0A9
is established from medical condition of	GM06945 GM06946
is established from medical condition of	wds:Q54842403-76438644-A0A9-4CB5-8D3D-DC75682E0A9A wds:Q54842404-66B72406-803D-493E-91BA-EEC172E14950

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