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Peroxisome Biogenesis Disorder 2A

Disease ID: disease_node_17515

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DbxrefMIM:214110
SubclassofDOID_905
Data SourceDOID
Synonymsperoxisome biogenesis disorder 2A (Zellweger)
Doid Labelperoxisome biogenesis disorder 2A
Doid DescriptionA Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.
Disease Node Iddisease_node_17515
Doid IdDOID_0080477
LabelPeroxisome Biogenesis Disorder 2A