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DO Term : Zellweger syndrome [DOID:905] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
  • synonyms:
  • MESH:D015211,
  • cerebrohepatorenal syndrome,
  • GARD:7917,
  • SNOMEDCT_US_2023_03_01:88469006,
  • ORDO:912,
  • NCI:C85239,
  • UMLS_CUI:C0043459,
  • congenital iron overload,
  • ICD10CM:E71.510
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents