Version: 8.0.0
Date: Tue Jan 28 2025
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
DOID:0060331
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Definition
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
Synonyms
  • MC5DN2
  • neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
Cross References
Parent Terms
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None
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      Associated Models

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