" /> Peroxisome Biogenesis Disorder 1A - CISMeF





Preferred Label : Peroxisome Biogenesis Disorder 1A;

NCIt synonyms : PBD1A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.;

NCI Metathesaurus CUI : CL556235;

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02/05/2025


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