Details of Disease

General Information of Disease (ID: DIS8H0DD)

Disease Name Peroxisome biogenesis disorder 5A (Zellweger)
Synonyms
PBD5A; peroxisome biogenesis disorder, complementation group 5; peroxisome biogenesis disorder, complementation group 10; peroxisome biogenesis disorder, complementation group F; peroxisome biogenesis disorder 5A (Zellweger)
Disease Hierarchy
DISI850Q: Peroxisome biogenesis disorder due to PEX2 defect
DIS8H0DD: Peroxisome biogenesis disorder 5A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013932
UMLS CUI
C3553940
OMIM ID
614866
MedGen ID
766854

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
PEX2 OTKOEYRM Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.