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Zellweger spectrum disorders

Disease Summary
Associated Targets (20)
Tbio

19

Tchem

1


GARD Rare
Mondo Description Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.
Disease Ontology Description A peroxisomal biogenesis disorder 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.
Mondo Term and Equivalent IDs
MONDO:0019609:  Zellweger spectrum disorders
GARD:0007917: 
ICD10:E71.510: 
MESH:D015211: 
NCIT:C85239: 
Orphanet:912: 
SCTID:88469006: 
UMLS:C0043459: