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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 , congenital iron overload, peroxisome biogenesis disorder, cerebrohepatorenal syndrome
Echinobase Genes
:
pex1,
pex16
| 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)