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http://purl.uniprot.org/keywords/958http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/958http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/core/Concept
http://purl.uniprot.org/keywords/958http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/keywords/958http://www.w3.org/2000/01/rdf-schema#comment"Protein which, if defective, causes peroxisome biogenesis disorder, a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata type 1 (RCDP1). ZWS, NALD and IRD are distinct from RCDP1 and constitute a clinical continuum of overlapping phenotypes known as Zellweger spectrum. The PBD group is genetically heterogeneous with at least 12 distinct genetic groups as concluded from complementation studies."xsd:string
http://purl.uniprot.org/keywords/958http://www.w3.org/2004/02/skos/core#prefLabel"Peroxisome biogenesis disorder"xsd:string
http://purl.uniprot.org/keywords/958http://www.w3.org/2004/02/skos/core#altLabel"PBD"xsd:string
http://purl.uniprot.org/keywords/958http://www.w3.org/2004/02/skos/core#altLabel"Peroxisome-biogenesis disorder"xsd:string
http://purl.uniprot.org/keywords/958http://www.w3.org/2004/02/skos/core#narrowerhttp://purl.uniprot.org/keywords/861
http://purl.uniprot.org/keywords/958http://purl.uniprot.org/core/categoryhttp://purl.uniprot.org/keywords/9995
http://purl.uniprot.org/keywords/861http://www.w3.org/2000/01/rdf-schema#subClassOfhttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/2153http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
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http://purl.uniprot.org/diseases/3582http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
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http://purl.uniprot.org/diseases/3594http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/4563http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/4564http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/4602http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/48http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/4964http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958
http://purl.uniprot.org/diseases/598http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/958