mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (Q19587393)

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mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21
  • MC5DN2
  • neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
  • Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
  • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2
  • Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
  • Mitochondrial Complex 5 (Atp Synthase) Deficiency, Tmem70 Type
  • TMEM70-related mitochondrial encephalo-cardio-myopathy
  • Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
  • Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency
  • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
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English
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
mitochondrial metabolism disease that has material basis in mutation in the TMEM70 gene on chromosome 8q21
  • MC5DN2
  • neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
  • Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
  • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2
  • Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency
  • Mitochondrial Complex 5 (Atp Synthase) Deficiency, Tmem70 Type
  • TMEM70-related mitochondrial encephalo-cardio-myopathy
  • Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency
  • Encephalocardiomyopathy, Mitochondrial, Neonatal, Due to Atp Synthase Deficiency
  • MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2

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