Details of Disease

General Information of Disease (ID: DISKULS3)

Disease Name Peroxisome biogenesis disorder 11A (Zellweger)
Synonyms peroxisome biogenesis disorder, complementation group H; peroxisome biogenesis disorder, complementation group 13; PBD11A; peroxisome biogenesis disorder 11A (Zellweger)
Disease Hierarchy
DISW18AK: Peroxisome biogenesis disorder due to PEX13 defect
DISKULS3: Peroxisome biogenesis disorder 11A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013949
UMLS CUI
C3554000
OMIM ID
614883
MedGen ID
766914

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
PEX13 OTXUAYEW 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.