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Ontology Browser

Term:
Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency (DOID:9002882)
Annotations: Rat: (5) Mouse: (5) Human: (5) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
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 +   
Barth syndrome +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
carnitine-acylcarnitine translocase deficiency  
cerebrotendinous xanthomatosis  
CK syndrome  
Congenital Lp(A) Deficiency  
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
Desmosterolosis  
Dyslipidemias +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
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  
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: LCHAD deficiency ;   LCHAD deficiency with maternal acute fatty liver of pregnancy ;   deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase ;   deficiency of long-chain acyl-CoA dehydrogenase ;   long-chain acyl-CoA dehydrogenase deficiency
Broad Synonyms: HADHA-related disorder
Primary IDs: MESH:C535690
Alternate IDs: OMIM:609016
Xrefs: GARD:6867 ;   NCI:C129929 ;   ORDO:5

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