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Summary Literature (0)
DOID:905 - Zellweger syndrome


Disease Ontology Definition:A peroxisomal disease that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual 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 : pex10, pex3, pex26, pex19, pex1, pex14, pex5, pex16, pex13, pex12, pex2, pex11b, pex6

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019609 - Zellweger syndrome

OMIM:
OMIM:214100 - PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): peroxisomal disease (is_a)