Details of Disease

General Information of Disease (ID: DIS60A1W)

Disease Name Premature ovarian failure 19
Synonyms premature ovarian failure 19; POF19
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DIS60A1W: Premature ovarian failure 19
Disease Identifiers
MONDO ID
MONDO_0030985
UMLS CUI
C5543229
OMIM ID
619245
MedGen ID
1779702

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
HSF2BP OTWKP0JC Limited Autosomal recessive [1]
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References

1 A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1. Elife. 2020 Aug 26;9:e56996. doi: 10.7554/eLife.56996.