Details of Disease

General Information of Disease (ID: DIS9E8J7)

Disease Name Peroxisome biogenesis disorder 5B
Synonyms PBD5B; peroxisome biogenesis disorder 5B; peroxisome biogenesis disorder type 5B
Disease Hierarchy
DISI850Q: Peroxisome biogenesis disorder due to PEX2 defect
DIS9E8J7: Peroxisome biogenesis disorder 5B
Disease Identifiers
MONDO ID
MONDO_0013933
UMLS CUI
C3542026
OMIM ID
614867
MedGen ID
762202

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
PEX2 OTKOEYRM Definitive Autosomal recessive [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.