Details of Disease

General Information of Disease (ID: DISUT5TZ)

Disease Name Peroxisome biogenesis disorder 10A (Zellweger)
Synonyms PBD10A; peroxisome biogenesis disorder, complementation group 12; peroxisome biogenesis disorder, complementation group G; peroxisome biogenesis disorder 10A (Zellweger)
Disease Hierarchy
DISU5SFL: Peroxisome biogenesis disorder due to PEX3 defect
DISUT5TZ: Peroxisome biogenesis disorder 10A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013948
UMLS CUI
C3553999
OMIM ID
614882
MedGen ID
766913

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 Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.