OBO ID: DOID:905
Term Name: Zellweger syndrome Search Ontology:
Synonyms:
  • cerebrohepatorenal syndrome
  • congenital iron overload
Definition: 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. (3)
References:
  • GARD:7917
  • ICD10CM:E71.510
  • MESH:D015211
  • NCI:C85239
  • ORDO:912
  • SNOMEDCT_US_2023_03_01:88469006
  • UMLS_CUI:C0043459
Ontology: Human Disease   ( DOID:905 )
Relationships
is a type of:
has subtype:
OTHER Zellweger syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (1)
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