Details of Disease

General Information of Disease (ID: DISD9FS5)

Disease Name Premature ovarian failure 11
Synonyms POF11; primary ovarian failure caused by mutation in ERCC6; premature ovarian failure type 11; premature ovarian failure 11; POF11; premature ovarian failure 11; ERCC6 primary ovarian failure
Definition Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene.
Disease Hierarchy
DIS4V9SY: Inherited primary ovarian failure
DISD9FS5: Premature ovarian failure 11
Disease Identifiers
MONDO ID
MONDO_0014843
UMLS CUI
C4310783
OMIM ID
616946
MedGen ID
934750

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
ERCC6 OT2QZKSF Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 CSB-PGBD3 Mutations Cause Premature Ovarian Failure. PLoS Genet. 2015 Jul 28;11(7):e1005419. doi: 10.1371/journal.pgen.1005419. eCollection 2015 Jul.