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Ontology Browser

Term:
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial (DOID:9000520)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial  
Pyruvate Dehydrogenase E1 Alpha Deficiency  
Pyruvate Dehydrogenase E1-Beta Deficiency  
Pyruvate Dehydrogenase E2 Deficiency  
Pyruvate Dehydrogenase E3-Binding Protein Deficiency  

Synonyms
Exact Synonyms: PCK2 deficiency ;   PEPCK2 deficiency ;   Phosphoenolpyruvate Carboxykinase 2 Deficiency
Primary IDs: MESH:C564890
Alternate IDs: MESH:C536655 ;   OMIM:261650 ;   RDO:0002296 ;   RDO:0013703

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