OBO ID: DOID:0060332
Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 Search Ontology:
Synonyms:
  • MC5DN3
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. https://pubmed.ncbi.nlm.nih.gov/20566710/
References:
Ontology: Human Disease   ( DOID:0060332 )
Relationships
is a type of:
OTHER mitochondrial complex V (ATP synthase) deficiency nuclear type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATP5F1E Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 614053
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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