Details of Disease

General Information of Disease (ID: DISCIA0C)

Disease Name Premature ovarian failure 5
Synonyms Pof5; primary ovarian failure caused by mutation in NOBOX; premature ovarian failure type 5; premature ovarian failure 5; NOBOX primary ovarian failure
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISCIA0C: Premature ovarian failure 5
Disease Identifiers
MONDO ID
MONDO_0012689
MESH ID
C566921
UMLS CUI
C1969060
OMIM ID
611548
MedGen ID
409743

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
NOBOX OT0YFYPZ Limited Autosomal dominant [1]
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References

1 NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science. 2004 Aug 20;305(5687):1157-9. doi: 10.1126/science.1099755.