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Ontology Browser
Term:
Pyruvate Dehydrogenase E3-Binding Protein Deficiency (DOID:9003678)
Annotations: Rat: (2) Mouse: (2) Human: (5) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
combined oxidative phosphorylation deficiency 2  
combined oxidative phosphorylation deficiency 3  
Congenital Infantile Lactic Acidosis +   
Defect of Tricarboxylic Acid Cycle 
GRACILE syndrome  
Hyperglycinemia, Lactic Acidosis, and Seizures  
Lactic Acidosis, Chronic Adult Form 
Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis 
mitochondrial DNA depletion syndrome 9  
Mitochondrial Myopathy with Lactic Acidosis  
mitochondrial pyruvate carrier deficiency  
Myopathy with Lactic Acidosis, Hereditary  
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E1-Beta Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  
Pyruvate Dehydrogenase Phosphatase Deficiency  

Synonyms
Exact Synonyms: Dihydrolipoyl dehydrogenase ;   Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex ;   PDHXD
Primary IDs: MESH:C565447
Alternate IDs: OMIM:245349

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