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Term:
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
alpha-methylacyl-CoA racemase deficiency  
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
aspartylglucosaminuria  
Barth syndrome +   
beta-mannosidosis  
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
CK syndrome  
Congenital Lp(A) Deficiency  
cystinosis +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
Danon disease  
Desmosterolosis  
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
galactosialidosis  
Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets  
Glutamyl Ribose-5-Phosphate Storage Disease 
Glycosylphosphatidylinositol Deficiency +   
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
lipid storage disease +   
A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)
lipodystrophy +   
lipoid proteinosis  
lipomatosis +   
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency +   
Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency 
Lysosomal Storage Diseases, Nervous System +   
Mannosidase Deficiency Diseases +   
medium chain acyl-CoA dehydrogenase deficiency  
MEND syndrome  
mitochondrial short-chain enoyl-CoA hydratase 1 deficiency  
mucopolysaccharidosis +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
Myopathy with Abnormal Lipid Metabolism  
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
pycnodysostosis  
Refsum disease +   
rhizomelic chondrodysplasia punctate type 4  
Schindler disease +   
short chain acyl-CoA dehydrogenase deficiency  
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 
Vacuolar Myopathy  
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Synonyms
Exact Synonyms: Lipidoses ;   Lipidosis ;   Lipoidosis ;   inborn lipid storage disorder ;   lipoid storage diseas ;   steatosis
Primary IDs: MESH:D008064
Xrefs: EFO:0008527 ;   ICD10CM:E75.6 ;   ICD9CM:272.7 ;   ICD9CM:272.8
Definition Sources: http://en.wikipedia.org/wiki/Lipidoses "DO" "DO"

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