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Human Disease

Peroxisome biogenesis disorder 9B

Term ID
DOID:0081438
Synonyms
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. https://pubmed.ncbi.nlm.nih.gov/12325024/
References
Ontology
Human Disease   ( DOID:0081438 )
Relationships
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Genes Involved
Zebrafish Models