FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Zellweger syndrome ID (Ontology) DOID:905 (Human Disease)
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.
Also Known As "cerebrohepatorenal syndrome" ; "congenital iron overload"
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       7
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Relevant FlyBase reports
 Alleles Genes
 Zellweger syndrome       7      4
 ameliorates | Zellweger syndrome       2       --
 model of | Zellweger syndrome       5       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease______
peroxisomal disease                  |
 |__peroxisomal biogenesis disorder__|
                                     Zellweger syndrome  47 rec.
                                      |__peroxisome biogenesis disorder 1A 4 rec.
                                      |__peroxisome biogenesis disorder 2A 8 rec.
                                      |__peroxisome biogenesis disorder 3A 2 rec.
                                      |__peroxisome biogenesis disorder 4A 2 rec.
                                      |__peroxisome biogenesis disorder 5A 4 rec.
                                      |__peroxisome biogenesis disorder 6A 2 rec.
                                      |__peroxisome biogenesis disorder 7A
                                      |__peroxisome biogenesis disorder 8A 5 rec.
                                      |__peroxisome biogenesis disorder 10A 3 rec.
                                      |__peroxisome biogenesis disorder 11A 3 rec.
                                      |__peroxisome biogenesis disorder 12A 3 rec.
                                      |__peroxisome biogenesis disorder 13A 3 rec.
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Is a autosomal recessive disease
peroxisomal biogenesis disorder
Part of
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Synonyms
  • "cerebrohepatorenal syndrome" EXACT
    "congenital iron overload" EXACT
Secondary IDs
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GARD:7917
ICD10CM:E71.510
MESH:D015211
NCI:C85239
ORDO:912
SNOMEDCT_US_2023_03_01:88469006
UMLS_CUI:C0043459