" /> Peroxisome Biogenesis Disorder 8A - CISMeF





Preferred Label : Peroxisome Biogenesis Disorder 8A;

NCIt synonyms : PBD8A;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.;

NCI Metathesaurus CUI : CL556241;

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02/05/2025


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