DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for Zellweger syndrome

Zellweger syndrome [DOID:905]

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

Linkouts:  OMIM #1 #2 #3