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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inherited lipid metabolism disorder
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Accession:EFO:MONDO:0002525 term browser browse the term
Definition:An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production.
Synonyms:broad_synonym: disorder of lipid metabolism;   dyslipidaemia;   dyslipidemia;   lipid metabolism disorder
 related_synonym: fatty acid metabolism disorder
 alt_id: MONDO:0002525
 xref: DOID:3146;   GARD:21314;   ICD9:272.8;   ICD9:272.9;   MEDGEN:57587;   MedDRA:10061227;   NCI:C97092;   ORDO:309005;   SCTID:267431006;   UMLS:C0154251
 external_ontology: disease_disrupts EFO:GO:0006629


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            inborn errors of metabolism 0
              inherited lipid metabolism disorder 0
                46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 0
                cortisone reductase deficiency 0
                developmental and epileptic encephalopathy, 55 0
                disorder of phospholipids, sphingolipids and fatty acids biosynthesis + 0
                disorder of plasmalogens biosynthesis + 0
                familial hyperlipidemia + 0
                glucocorticoid resistance 0
                glycosylphosphatidylinositol biosynthesis defect 15 0
                glycosylphosphatidylinositol biosynthesis defect 16 0
                glycosylphosphatidylinositol biosynthesis defect 17 0
                glycosylphosphatidylinositol biosynthesis defect 18 0
                hypolipoproteinemia + 0
                inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation + 0
                inborn disorder of ketolysis + 0
                inherited fatty acid metabolism disorder + 0
                lipoid proteinosis 0
                lysosomal lipid storage disorder + 0
                mitochondrial trifunctional protein deficiency + 0
                neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 0
                pancreatic triacylglycerol lipase deficiency + 0
                steroid inherited metabolic disorder + 0
                sterol metabolism disorder + 0
                syndromic dyslipidemia + 0
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