Details of Disease

General Information of Disease (ID: DISL6B7K)

Disease Name Peroxisome biogenesis disorder 3A (Zellweger)
Synonyms peroxisome biogenesis disorder, complementation group 3; PBD3A; peroxisome biogenesis disorder 3A (Zellweger)
Disease Hierarchy
DIS4TC9O: Peroxisome biogenesis disorder due to PEX12 defect
DISL6B7K: Peroxisome biogenesis disorder 3A (Zellweger)
Disease Identifiers
MONDO ID
MONDO_0013927
UMLS CUI
C3553929
OMIM ID
614859
MedGen ID
766843

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
PEX12 OT9F6LPN 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.