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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, cerebrohepatorenal syndrome , congenital iron overload, peroxisome biogenesis disorder
Xenbase Genes
:
pex10,
pex3,
pex26,
pex19,
pex1,
pex14,
pex5,
pex16,
pex13,
pex12,
pex2,
pex11b,
pex6
| MONDO:0019609 - Zellweger spectrum disorders |
| MIM:214100 - PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER); PBD1A |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
peroxisomal biogenesis disorder (is_a),
peroxisomal disease (is_a)