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http://purl.uniprot.org/diseases/3589http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Disease
http://purl.uniprot.org/diseases/3589http://www.w3.org/2000/01/rdf-schema#comment"A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life."xsd:string
http://purl.uniprot.org/diseases/3589http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/keywords/861
http://purl.uniprot.org/diseases/3589http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/mim/614876
http://purl.uniprot.org/diseases/3589http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://id.nlm.nih.gov/mesh/D015211
http://purl.uniprot.org/diseases/3589http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/C3553959
http://purl.uniprot.org/diseases/3589http://www.w3.org/2000/01/rdf-schema#seeAlsohttp://purl.uniprot.org/medgen/CN159236
http://purl.uniprot.org/diseases/3589http://www.w3.org/2004/02/skos/core#prefLabel"Peroxisome biogenesis disorder 8A"xsd:string
http://purl.uniprot.org/diseases/3589http://purl.uniprot.org/core/mnemonic"PBD8A"xsd:string
http://purl.uniprot.org/diseases/3589http://www.w3.org/2004/02/skos/core#altLabel"Peroxisome biogenesis disorder 8A (Zellweger)"xsd:string
http://purl.uniprot.org/uniprot/Q9Y5Y5#SIP4D314AC521F9D8D9http://purl.uniprot.org/core/diseasehttp://purl.uniprot.org/diseases/3589
http://purl.uniprot.org/uniprot/#_3CF3492410A48807_up.disease_A7B81D66D950DD03http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/diseases/3589