Details of Disease

General Information of Disease (ID: DIS51ZSU)

Disease Name Peroxisome biogenesis disorder 10B
Synonyms PBD10B; peroxisome biogenesis disorder 10B
Disease Hierarchy
DISU5SFL: Peroxisome biogenesis disorder due to PEX3 defect
DIS51ZSU: Peroxisome biogenesis disorder 10B
Disease Identifiers
MONDO ID
MONDO_0054549
UMLS CUI
C4479254
OMIM ID
617370
MedGen ID
1379481

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
PEX3 OTGZ7ME2 Strong Mitochondrial [1]
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References

1 Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder. JIMD Rep. 2017;34:71-75. doi: 10.1007/8904_2016_10. Epub 2016 Aug 25.