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Human Disease

Peroxisome biogenesis disorder 8B

Term ID
DOID:0081437
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 mutation in the PEX16 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/22871920/
References
Ontology
Human Disease   ( DOID:0081437 )
Relationships
is a type of
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Genes Involved
Zebrafish Models