Details of Disease

General Information of Disease (ID: DISV9CQE)

Disease Name Peroxisome biogenesis disorder 11B
Synonyms PBD11B; peroxisome biogenesis disorder 11B; peroxisome biogenesis disorder type 11B
Disease Hierarchy
DISW18AK: Peroxisome biogenesis disorder due to PEX13 defect
DISV9CQE: Peroxisome biogenesis disorder 11B
Disease Identifiers
MONDO ID
MONDO_0013950
UMLS CUI
C3554001
OMIM ID
614885
MedGen ID
766915

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.