Search Ontology:
Human Disease

mitochondrial complex V (ATP synthase) deficiency nuclear type 5

Term ID
DOID:0070463
Synonyms
  • MC5DN5
Definition
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/29478781/
References
Ontology
Human Disease   ( DOID:0070463 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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