Zellweger syndrome

Term ID

DOID:905

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 )