Details of Disease | DrugMAP

General Information of Disease (ID: DIS22ZRT)

Disease Name	Oocyte maturation defect 8
Synonyms	OOMD8; OOCYTE MATURATION DEFECT 8
Disease Hierarchy	DISP4TKS: Inherited oocyte maturation defect DIS22ZRT: Oocyte maturation defect 8
Disease Identifiers	MONDO ID MONDO_0033564 UMLS CUI C5436597 OMIM ID 619009 MedGen ID 1776094

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
BTG4	OTT3TKPI	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility. Am J Hum Genet. 2020 Jul 2;107(1):24-33. doi: 10.1016/j.ajhg.2020.05.010. Epub 2020 Jun 4.