Details of Disease

General Information of Disease (ID: DIST2B72)

Disease Name Peroxisome biogenesis disorder 9B
Synonyms
peroxisome biogenesis disorder, complementation group R; Refsum disease, adult, 2; peroxisome biogenesis disorder, PEX7-related, atypical; PBD9B; peroxisome biogenesis disorder, complementation group 11; peroxisome biogenesis disorder 9B; peroxisome biogenesis disorder type 9B
Disease Hierarchy
DISW52CE: Zellweger spectrum disorders
DIST2B72: Peroxisome biogenesis disorder 9B
Disease Identifiers
MONDO ID
MONDO_0013945
MESH ID
C567603
UMLS CUI
C2749346
OMIM ID
614879
MedGen ID
440765

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
PEX7 OTM7VBRC Definitive Autosomal recessive [1]
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References

1 Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124.