Details of Disease

General Information of Disease (ID: DIS3UHXM)

Disease Name Peroxisome biogenesis disorder 8A (Zellweger)
Synonyms peroxisome biogenesis disorder, complementation group 9; peroxisome biogenesis disorder, complementation group D; PBD8A; peroxisome biogenesis disorder 8A (Zellweger)
Disease Hierarchy
DISESC3L: Peroxisome biogenesis disorder due to PEX16 defect
DIS3UHXM: Peroxisome biogenesis disorder 8A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013942
UMLS CUI
C3553959
OMIM ID
614876
MedGen ID
766873

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
PEX16 OTJQJ2TZ 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.