Zellweger syndrome

Term ID

DOID:905

Synonyms

cerebrohepatorenal syndrome
congenital iron overload

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. (3)

References

GARD:7917
ICD10CM:E71.510
MESH:D015211
NCI:C85239
ORDO:912
SNOMEDCT_US_2023_03_01:88469006
UMLS_CUI:C0043459

Ontology

Human Disease ( DOID:905 )

Relationships

is a type of: autosomal recessive disease peroxisomal biogenesis disorder

autosomal recessive disease peroxisomal biogenesis disorder Show first 5 Terms
has subtype: peroxisome biogenesis disorder 1A peroxisome biogenesis disorder 2A peroxisome biogenesis disorder 3A peroxisome biogenesis disorder 4A peroxisome biogenesis disorder 5A ... Show All 12 Terms

peroxisome biogenesis disorder 1A peroxisome biogenesis disorder 2A peroxisome biogenesis disorder 3A peroxisome biogenesis disorder 4A peroxisome biogenesis disorder 5A peroxisome biogenesis disorder 6A peroxisome biogenesis disorder 7A peroxisome biogenesis disorder 8A peroxisome biogenesis disorder 10A peroxisome biogenesis disorder 11A peroxisome biogenesis disorder 12A peroxisome biogenesis disorder 13A Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations