mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 Disease Ontology Browser

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Disease Ontology Browser

mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 (DOID:0111748)
Alliance: disease page
Synonyms: MC5DM1
Alt IDs: OMIM:500015
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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