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Peroxisome Biogenesis Disorder 1A

Disease ID: disease_node_17516

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DbxrefMIM:214100
SubclassofDOID_905
Data SourceDOID
Synonymsperoxisome biogenesis disorder 1A (Zellweger)
Doid Labelperoxisome biogenesis disorder 1A
Doid DescriptionA Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21.
Disease Node Iddisease_node_17516
Doid IdDOID_0080476
LabelPeroxisome Biogenesis Disorder 1A