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Term:
familial combined hyperlipidemia (DOID:13809)
Annotations: Rat: (14) Mouse: (14) Human: (18) Chinchilla: (14) Bonobo: (14) Dog: (14) Squirrel: (14) Pig: (14)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Barth syndrome +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
chylomicron retention disease  
CK syndrome  
Congenital Lp(A) Deficiency  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Desmosterolosis  
Dyslipidemias +   
familial chylomicronemia syndrome +   
familial combined hyperlipidemia +   
A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.
familial hypercholesterolemia +   
familial hyperlipidemia +   
glycogen storage disease IX +   
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
Hypercholesterolemia +   
hyperlipoproteinemia type IV  
hyperlipoproteinemia type V  
Hyperlipoproteinemias +   
Hypertriglyceridemia +   
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
lipid storage disease +   
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
neutral lipid storage disease +   
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder   
Phospholipase A2, Group IVA, Deficiency of  
Refsum disease +   
short chain acyl-CoA dehydrogenase deficiency  
sitosterolemia +   
Smith-Lemli-Opitz syndrome +   
steroid inherited metabolic disorder +   
syndromic X-linked intellectual disability type 10  
Triglyceride Storage Disease, Type I 
Triglyceride Storage Disease, Type II 
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Synonyms
Exact Synonyms: FCHL ;   familial combined hyperlipidemias ;   familial multiple lipoprotein-type hyperlipidemia ;   hyperbetalipoproteinemia with prebetalipoproteinemia ;   mixed hyperlipidaemia ;   multiple lipoprotein-type hyperlipidemia ;   multiple lipoprotein-type hyperlipidemias ;   type IIb hyperlipoproteinemia
Related Synonyms: HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO
Primary IDs: MESH:D006950
Alternate IDs: OMIM:144250 ;   RDO:0005842
Xrefs: ICD10CM:E78.49 ;   NCI:C35637
Definition Sources: MESH:D006950

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.