Details of Disease

General Information of Disease (ID: DISJZE7O)

Disease Name Oocyte maturation defect 7
Synonyms OOMD7; OOCYTE MATURATION DEFECT 7
Disease Hierarchy
DISP4TKS: Inherited oocyte maturation defect
DISJZE7O: Oocyte maturation defect 7
Disease Identifiers
MONDO ID
MONDO_0032810
UMLS CUI
C5231407
OMIM ID
618550
MedGen ID
1684736

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
PANX1 OTXPEDOK Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 A pannexin 1 channelopathy causes human oocyte death. Sci Transl Med. 2019 Mar 27;11(485):eaav8731. doi: 10.1126/scitranslmed.aav8731.