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Term:
Myopathy with Abnormal Lipid Metabolism (DOID:9002543)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
2,4-Dienoyl-CoA Reductase Deficiency  
Acetyl-Coa Carboxylase Deficiency  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Alpha-B Crystallinopathy with Cataract 
alpha-methylacyl-CoA racemase deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Apolipoprotein A-I, Deficiency of +   
APOLIPOPROTEIN A-II DEFICIENCY  
Apolipoprotein E, Deficiency or Defect of +   
Barth syndrome +   
Bassoe Syndrome 
Becker muscular dystrophy +   
carnitine palmitoyltransferase I deficiency  
carnitine palmitoyltransferase II deficiency +   
Carnitine-Acylcarnitine Translocase Deficiency  
cerebrotendinous xanthomatosis  
chylomicron retention disease  
Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism 
Congenital Lp(A) Deficiency  
congenital muscular dystrophy +   
Cytosolic Acetoacetyl-CoA Thiolase Deficiency  
D-bifunctional protein deficiency  
Desmosterolosis  
distal myopathy +   
Duchenne muscular dystrophy +   
Dyslipidemias +   
Emery-Dreifuss muscular dystrophy +   
facioscapulohumeral muscular dystrophy +   
familial combined hyperlipidemia +   
familial hyperlipidemia +   
glycogen storage disease VII  
Glycosylphosphatidylinositol Deficiency +   
Hepatic Lipase Deficiency  
hyperlipoproteinemia type IV  
Hypertriglyceridemia, Transient Infantile  
hypolipoproteinemia +   
limb-girdle muscular dystrophy +   
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 +   
Muscular Dystrophy, Animal +   
Muscular Dystrophy, Barnes Type 
Muscular Dystrophy, Cardiac Type 
Muscular Dystrophy, Mabry Type 
Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries 
Myofibrillar Myopathy, ZASP-Related  
Myopathy with Abnormal Lipid Metabolism  
MYOPATHY, SCAPULOHUMEROPERONEAL  
myotonic disease +   
neutral lipid storage disease +   
oculopharyngeal muscular dystrophy +   
Oculopharyngodistal Myopathy  
Pancreatic Lipase Deficiency  
peroxisomal acyl-CoA oxidase deficiency  
PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER  
Phospholipase A2, Group IVA, Deficiency of  
Progressive Muscular Dystrophy, Pectorodorsal 
Refsum disease +   
rigid spine muscular dystrophy 1  
scapuloperoneal myopathy +   
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 
Vacuolar Neuromyopathy 
very long chain acyl-CoA dehydrogenase deficiency  
xanthomatosis +   

Synonyms
Exact Synonyms: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY ;   LSMFLAD ;   Lipid Storage Myopathy
Primary IDs: MESH:C562935 ;   RDO:0012437
Alternate IDs: OMIM:255100

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