Version: 8.0.0
Date: Tue Jan 28 2025
Peroxisome biogenesis disorder 9B
DOID:0081438
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Peroxisome biogenesis disorder 9B

Definition
A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.
Synonyms
None
Cross References
Parent Terms
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Sources of Associations

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      Associated Models

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