Details of Disease

General Information of Disease (ID: DISJ2BPG)

Disease Name Oocyte/zygote/embryo maturation arrest 18
Disease Hierarchy
DISP4TKS: Inherited oocyte maturation defect
DISJ2BPG: Oocyte/zygote/embryo maturation arrest 18
Disease Identifiers
MONDO ID
MONDO_0957230
UMLS CUI
C5830441
OMIM ID
620332
MedGen ID
1841077

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
NLRP2 OTJA81JU Limited Unknown [1]
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References

1 Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PLoS Genet. 2009 Mar;5(3):e1000423. doi: 10.1371/journal.pgen.1000423. Epub 2009 Mar 20.