Details of Disease

General Information of Disease (ID: DISJ6BRC)

Disease Name Oocyte maturation defect 12
Synonyms OOMD12
Disease Hierarchy
DISP4TKS: Inherited oocyte maturation defect
DISJ6BRC: Oocyte maturation defect 12
Disease Identifiers
MONDO ID
MONDO_0030523
UMLS CUI
C5562063
OMIM ID
619697
MedGen ID
1794273

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
FBXO43 OT6ST2A4 Limited Unknown [1]
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References

1 FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Hum Reprod. 2021 Jul 19;36(8):2392-2402. doi: 10.1093/humrep/deab131.