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Details on Person lipid metabolism disorder

Class:IdDisease:5679071
_displayNamelipid metabolism disorder
_timestamp2015-03-02 16:50:15
created[InstanceEdit:5679074] Jassal, Bijay, 2015-03-02
definitionAn inherited metabolic disorder that involves the creation and degradation of lipids.
identifier3146
namelipid metabolism disorder
referenceDatabase[ReferenceDatabase:1247631] DOID
synonymdyslipidemia
fatty acid metabolism disorder
(disease)[Pathway:5679090] Defective ABCG8 causes GBD4 and sitosterolemia [Homo sapiens]
[Pathway:5679096] Defective ABCG5 causes sitosterolemia [Homo sapiens]
[FailedReaction:5679101] Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region [Homo sapiens]
[FailedReaction:5679145] Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region [Homo sapiens]
[Pathway:9759774] Diseases of mitochondrial beta oxidation [Homo sapiens]
[Pathway:9759785] Diseases of propionyl-CoA catabolism [Homo sapiens]
[EntityWithAccessionedSequence:5679073] ABCG5 R419H [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5679080] ABCG8 Y658* [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5679089] ABCG5 R243* [plasma membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5679100] ABCG8 P231T [plasma membrane] [Homo sapiens]
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No pathways have been reviewed or authored by lipid metabolism disorder (5679071)