Details of Disease | DrugMAP

General Information of Disease (ID: DISKM7VC)

Disease Name	Peroxisome biogenesis disorder 7B
Synonyms	PBD7B; peroxisome biogenesis disorder type 7B; peroxisome biogenesis disorder 7B
Disease Hierarchy	DIS9AEWG: Peroxisome biogenesis disorder due to PEX26 defect DISKM7VC: Peroxisome biogenesis disorder 7B
Disease Identifiers	MONDO ID MONDO_0013939 UMLS CUI C3553951 OMIM ID 614873 MedGen ID 766865

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
PEX26	OT5AM0BM	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.