http://purl.uniprot.org/keywords/958 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Concept |
http://purl.uniprot.org/keywords/958 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/core/Concept |
http://purl.uniprot.org/keywords/958 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/keywords/9995 |
http://purl.uniprot.org/keywords/958 | http://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/958 | http://www.w3.org/2004/02/skos/core#prefLabel | "Peroxisome biogenesis disorder"xsd:string |
http://purl.uniprot.org/keywords/958 | http://www.w3.org/2004/02/skos/core#altLabel | "PBD"xsd:string |
http://purl.uniprot.org/keywords/958 | http://www.w3.org/2004/02/skos/core#altLabel | "Peroxisome-biogenesis disorder"xsd:string |
http://purl.uniprot.org/keywords/958 | http://www.w3.org/2004/02/skos/core#narrower | http://purl.uniprot.org/keywords/861 |
http://purl.uniprot.org/keywords/958 | http://purl.uniprot.org/core/category | http://purl.uniprot.org/keywords/9995 |
http://purl.uniprot.org/keywords/861 | http://www.w3.org/2000/01/rdf-schema#subClassOf | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/1001 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/2153 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/2154 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3577 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3578 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3582 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3584 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3586 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3588 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3590 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3591 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3594 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/3597 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/4563 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |
http://purl.uniprot.org/diseases/4564 | http://www.w3.org/2000/01/rdf-schema#seeAlso | http://purl.uniprot.org/keywords/958 |