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Human Disease
peroxisome biogenesis disorder 1B
- Term ID
- DOID:0081240
- Synonyms
-
- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0081240 )
- is a type of
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