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Peroxisome Biogenesis Disorder 2B

Disease ID: disease_node_17530

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DbxrefMIM:202370
SubclassofDOID_0080377, DOID_0050737
Data SourceDOID
Doid Labelperoxisome biogenesis disorder 2B
Doid DescriptionA peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_17530
Doid IdDOID_0080622
LabelPeroxisome Biogenesis Disorder 2B