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Combined Oxidative Phosphorylation Deficiency 41

Disease ID: disease_node_16715

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DbxrefMIM:618838
SubclassofDOID_0050737, DOID_0060286
Data SourceDOID
SynonymsCOXPD41
Doid Labelcombined oxidative phosphorylation deficiency 41
Doid DescriptionA combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16715
Doid IdDOID_0112119
LabelCombined Oxidative Phosphorylation Deficiency 41