FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term lipid metabolism disorder ID (Ontology) DOID:3146 (Human Disease)
Definition An inherited metabolic disorder that involves the creation and degradation of lipids.
Also Known As "dyslipidemia" ; "fatty acid metabolism disorder"
Comment
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Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       4
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 Alleles Genes
 lipid metabolism disorder       4      3
 model of | lipid metabolism disorder       4       --
Spanning Tree (Parents/Children)
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disease of metabolism__
genetic disease________|
                       inherited metabolic disorder
                        |__lipid metabolism disorder  108 rec.
                            |__carnitine palmitoyltransferase I deficiency 1 rec.
                            |__carnitine palmitoyltransferase II deficiency 1 rec.
                            |__carnitine-acylcarnitine translocase deficiency 2 rec.
                            |__cholesterol-ester transfer protein deficiency
                            |   |__apolipoprotein C-III deficiency
                            |   |__hyperalphalipoproteinemia 1
                            |__chylomicron retention disease 1 rec.
                            |__CK syndrome 1 rec.
                            |__desmosterolosis
                            |__familial hyperlipidemia 21 rec.
                            |   |__familial chylomicronemia syndrome(+) 17 rec.
                            |   |__familial combined hyperlipidemia 17 rec.
                            |   |__familial hypercholesterolemia(+) 4 rec.
                            |   |__hyperlipoproteinemia type III
                            |   |__hyperlipoproteinemia type IV
                            |   |__hyperlipoproteinemia type V
                            |__hypolipoproteinemia 12 rec.
                            |   |__abetalipoproteinemia 1 rec.
                            |   |__hypobetalipoproteinemia(+) 6 rec.
                            |   |__Norum disease 2 rec.
                            |   |__primary hypoalphalipoproteinemia 1 3 rec.
                            |   |__primary hypoalphalipoproteinemia 2
                            |   |__Tangier disease 3 rec.
                            |__lipoid proteinosis
                            |__long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 1 rec.
                            |__medium chain acyl-CoA dehydrogenase deficiency 4 rec.
                            |__MEND syndrome
                            |__mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 5 rec.
                            |__mitochondrial trifunctional protein deficiency 7 rec.
                            |   |__mitochondrial trifunctional protein deficiency 1 2 rec.
                            |   |__mitochondrial trifunctional protein deficiency 2 2 rec.
                            |__multiple congenital anomalies-hypotonia-seizures syndrome 15 rec.
                            |   |__multiple congenital anomalies-hypotonia-seizures syndrome 1 5 rec.
                            |   |__multiple congenital anomalies-hypotonia-seizures syndrome 2 8 rec.
                            |   |__multiple congenital anomalies-hypotonia-seizures syndrome 3 1 rec.
                            |   |__multiple congenital anomalies-hypotonia-seizures syndrome 4 1 rec.
                            |__Refsum disease
                            |__short chain acyl-CoA dehydrogenase deficiency 2 rec.
                            |__Smith-Lemli-Opitz syndrome 1 rec.
                            |__steroid inherited metabolic disorder 29 rec.
                            |   |__apparent mineralocorticoid excess syndrome 2 rec.
                            |   |__congenital adrenal hyperplasia 15 rec.
                            |   |__congenital bile acid synthesis defect(+) 10 rec.
                            |   |__cytochrome P450 oxidoreductase deficiency 1 rec.
                            |   |__familial hypercholanemia 1 1 rec.
                            |   |__familial hypercholanemia 2 1 rec.
                            |   |__familial hypercholanemia 3
                            |__very long chain acyl-CoA dehydrogenase deficiency 2 rec.
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Is a inherited metabolic disorder
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Synonyms
  • "dyslipidemia" EXACT
    "fatty acid metabolism disorder" EXACT
Secondary IDs
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MESH:D008052
UMLS_CUI:C0023772