Details of Disease

General Information of Disease (ID: DISQNNXB)

Disease Name Peroxisome biogenesis disorder 14B
Synonyms PEX14B; peroxisome biogenesis disorder 14B; peroxisome biogenesis disorder type 14B; PEX11B peroxisome biogenesis disorder
Disease Hierarchy
DISEODKP: Peroxisome biogenesis disorder due to PEX11B defect
DISQNNXB: Peroxisome biogenesis disorder 14B
Disease Identifiers
MONDO ID
MONDO_0013967
UMLS CUI
C3554055
OMIM ID
614920
MedGen ID
766969

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
PEX11B OTB1AWPM Definitive Autosomal recessive [1]
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References

1 A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 gene. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778.