Details of Disease

General Information of Disease (ID: DISQ29H1)

Disease Name Peroxisome biogenesis disorder 2B
Synonyms PBD2B; peroxisome biogenesis disorder 2B; peroxisome biogenesis disorder type 2B
Disease Hierarchy
DISLQ5JU: Peroxisome biogenesis disorder due to PEX5 defect
DISQ29H1: Peroxisome biogenesis disorder 2B
Disease Identifiers
MONDO ID
MONDO_0008736
UMLS CUI
C3550234
OMIM ID
202370
MedGen ID
763148

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PEX5 OTK4LMG7 Definitive Autosomal recessive [1]
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References

1 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.