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Peroxisome biogenesis disorder 10B
Summary
- 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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24.
- Super Class
- autosomal recessive disease peroxisomal biogenesis disorder
External Links
- Disease Ontology
- DOID:0081440
- Mondo Disease Ontology
- OMIM
