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Term:
Parent Terms Term With Siblings Child Terms
Adult-onset autosomal recessive sideroblastic anemia 
Cardiomyopathy - hypotonia - lactic acidosis 
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy 
Disorder of fatty acid oxidation and ketone body metabolism +  
disorder of glycolysis +  
Epileptic encephalopathy with global cerebral demyelination 
Hemolytic anemia due to red cell pyruvate kinase deficiency 
Hypotonia - cystinuria type 1 +  
Isolated ATP synthase deficiency 
Isolated CoQ-cytochrome C reductase deficiency 
Isolated cytochrome C oxidase deficiency 
Lipoic acid biosynthesis defect +  
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies +  
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +  
mitochondrial pyruvate carrier deficiency 
Mohr-Tranebjaerg syndrome 
pyruvate dehydrogenase deficiency +  
Pyruvate kinase hyperactivity 
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Unspecified mitochondrial disorder 

Synonyms
Exact Synonyms: PKHYP
Related Synonyms: adenosine triphosphate, elevated, of erythrocytes
Xrefs: DOID:9002812 ;   MEDGEN:350114 ;   MESH:C566310 ;   MIM:102900 ;   MONDO:0007067 ;   UMLS:C1863224 ;   UniProt:P30613
Definition Sources: EFO:0005840

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