Details of Disease

General Information of Disease (ID: DISA88XF)

Disease Name Peroxisome biogenesis disorder 13A (Zellweger)
Synonyms PBD13A; peroxisome biogenesis disorder, complementation group K; peroxisome biogenesis disorder 13A (Zellweger)
Disease Hierarchy
DISR5OKH: Peroxisome biogenesis disorder due to PEX14 defect
DISA88XF: Peroxisome biogenesis disorder 13A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013952
UMLS CUI
C3554004
OMIM ID
614887
MedGen ID
766918

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
PEX14 OT98BZHE 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.