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Mitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 1

Disease ID: disease_node_16801

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DbxrefMIM:604273
SubclassofDOID_0111143
Data SourceDOID
SynonymsMC5DN1
Doid Labelmitochondrial complex V (ATP synthase) deficiency nuclear type 1
Doid DescriptionA mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
Disease Node Iddisease_node_16801
Doid IdDOID_0050768
Disease Has Basis InSO_0001537
LabelMitochondrial Complex V (Atp Synthase) Deficiency Nuclear Type 1