Zellweger syndrome

Summary

DOID:905 - Zellweger syndrome

Disease Ontology 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.

Synonyms: cerebrohepatorenal syndrome , congenital iron overload, peroxisome biogenesis disorder,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pex10, pex3, pex26, pex19, pex1, pex14, pex5, pex16, pex13, pex12, pex2, pex11b, pex6

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019609 - Zellweger spectrum disorders

MONDO:0019609 - Zellweger spectrum disorders

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), peroxisomal disease (is_a)