OBO ID: DOID:0060331
Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Search Ontology:
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
  • OMIM:614052
  • ORDO:1194
  • SNOMEDCT_US_2023_03_01:718212006
  • UMLS_CUI:C4273660
Ontology: Human Disease   ( DOID:0060331 )
Relationships
is a type of:
OTHER mitochondrial complex V (ATP synthase) deficiency nuclear type 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM70 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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