Version: 8.0.0
Date: Tue Jan 28 2025
peroxisome biogenesis disorder 1B
DOID:0081240
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

peroxisome biogenesis disorder 1B

Definition
A peroxisome 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 PEX1 gene on chromosome 7q21.
Synonyms
None
Cross References
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Sources of Associations

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      Associated Models

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