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Ontology Term : Zellweger syndrome UniProtKeyword

description  Protein which, if defective, causes Zellweger syndrome, a fatal peroxisome biogenesis disorder associated with severe abnormalities in the brain, liver and kidney and death soon after birth. This disease is characterized by the presence of empty peroxisomes in the cells due to impaired transport of peroxisomal proteins into the peroxisomes
  • synonyms:
  • Cerebro-hepato-renal syndrome,
  • Cerebrohepatorenal syndrome,
  • CHR syndrome,
  • ZWS
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