Search Ontology:
Human Disease

mitochondrial complex V (ATP synthase) deficiency nuclear type 2

Term ID
DOID:0060331
Synonyms
  • MC5DN2
  • neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
Definition
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. http://omim.org/entry/614052
References
  • GARD:12965
  • MIM:614052
  • ORDO:1194
  • SNOMEDCT_US_2023_03_01:718212006
  • UMLS_CUI:C4273660
Ontology
Human Disease   ( DOID:0060331 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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