Details of Disease

General Information of Disease (ID: DISLHJSV)

Disease Name Peroxisome biogenesis disorder 12A (Zellweger)
Synonyms Cgj; peroxisome biogenesis disorder, complementation group 14; Cg14; peroxisome biogenesis disorder, complementation group J; PBD12A; peroxisome biogenesis disorder 12A (Zellweger)
Disease Hierarchy
DIS5HJNP: Peroxisome biogenesis disorder due to PEX19 defect
DISLHJSV: Peroxisome biogenesis disorder 12A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013951
UMLS CUI
C3554002
OMIM ID
614886
MedGen ID
766916

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
PEX19 OTQIDE9Z 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.