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peroxisome biogenesis disorder 2B
Summary
- Definition
- A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3.
- Super Class
- autosomal recessive disease peroxisomal biogenesis disorder
External Links
- Disease Ontology
- DOID:0080622
- Mondo Disease Ontology
- OMIM
