DISEASES

Disease-gene associations mined from literature

Human genes for Zellweger syndrome

Zellweger syndrome [DOID:905]

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:  Zellweger syndrome,  DOID:905,  Zellweger disease,  Zellweger disorder,  cerebrohepatorenal syndrome ...

Linkouts:  OMIM #1 #2 #3