Peroxisome biogenesis disorder 5B
Information
- Disease name
- Peroxisome biogenesis disorder 5B
- Disease ID
- DOID:0081434
- Description
- "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 PEX2 gene on chromosome 8q21." [url:https\://pubmed.ncbi.nlm.nih.gov/22871920/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0080377
- Cross Reference ID (Disease Ontology)
- MIM:614867