mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1

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Summary

Literature (0)

DOID:0111748 - mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1

Disease Ontology 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.

Synonyms: MC5DM1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): mitochondrial complex V (ATP synthase) deficiency (is_a)