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Disease Ontology Browser
Zellweger syndrome (DOID:905)
Alliance: disease page
Synonyms: cerebrohepatorenal syndrome; congenital iron overload
Alt IDs: ICD10CM:E71.510, MESH:D015211, NCI:C85239, ORDO:912, UMLS_CUI:C0043459
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.

Disease References using Mouse Models (4)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/05/2024
MGI 6.24 		The Jackson Laboratory