Details of Disease

General Information of Disease (ID: DIS5SP4S)

Disease Name Oocyte maturation defect 9
Synonyms OOMD9; OOCYTE MATURATION DEFECT 9
Disease Hierarchy
DISP4TKS: Inherited oocyte maturation defect
DIS5SP4S: Oocyte maturation defect 9
Disease Identifiers
MONDO ID
MONDO_0033565
UMLS CUI
C5436599
OMIM ID
619011
MedGen ID
1724427

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
TRIP13 OTFM3TI9 Strong Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. Am J Hum Genet. 2020 Jul 2;107(1):15-23. doi: 10.1016/j.ajhg.2020.05.001. Epub 2020 May 29.