FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term mitochondrial complex V (ATP synthase) deficiency nuclear type 2 ID (Ontology) DOID:0060331 (Human Disease)
Definition A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.
Also Known As "MC5DN2" ; "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency"
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 Genes
 mitochondrial complex V (ATP synthase) deficiency nuclear type 2       1
 for disease ribbon | mitochondrial complex V (ATP synthase) deficiency nuclear type 2       1
 model of | mitochondrial complex V (ATP synthase) deficiency nuclear type 2       1
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  mitochondrial metabolism disease
   |__mitochondrial complex V (ATP synthase) deficiency
       |__mitochondrial complex V (ATP synthase) deficiency nuclear type 2  1 rec.
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Is a mitochondrial complex V (ATP synthase) deficiency
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Synonyms
  • "MC5DN2" EXACT OMO:0003012
    "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT
Secondary IDs
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GARD:12965
MIM:614052
ORDO:1194
SNOMEDCT_US_2023_03_01:718212006
UMLS_CUI:C4273660