Search Ontology:
Human Disease

mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1

Term ID
DOID:0111748
Synonyms
  • MC5DM1
Definition
A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. https://www.ncbi.nlm.nih.gov/pubmed/1550128
References
Ontology
Human Disease   ( DOID:0111748 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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