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Mitochondrial Complex V (Atp Synthase) Deficiency Mitochondrial Type 1

Disease ID: disease_node_16793

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DbxrefMIM:500015
SubclassofDOID_0111143
Data SourceDOID
SynonymsMC5DM1
Doid Labelmitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
Doid DescriptionA mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.
Disease Node Iddisease_node_16793
Doid IdDOID_0111748
LabelMitochondrial Complex V (Atp Synthase) Deficiency Mitochondrial Type 1