Details of Disease

General Information of Disease (ID: DISGRYE2)

Disease Name Ovarian dysgenesis 3
Synonyms ODG3; ovarian dysgenesis type 3; ovarian dysgenesis 3; PSMC3IP 46 XX gonadal dysgenesis; 46 XX gonadal dysgenesis caused by mutation in PSMC3IP
Definition Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene.
Disease Hierarchy
DISBB9HA: 46 XX gonadal dysgenesis
DISGRYE2: Ovarian dysgenesis 3
Disease Identifiers
MONDO ID
MONDO_0013689
UMLS CUI
C3280471
OMIM ID
614324
MedGen ID
482101

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
PSMC3IP OT9UB5UO Strong Autosomal recessive [1]
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References

1 The Hop2 protein has a direct role in promoting interhomolog interactions during mouse meiosis. Dev Cell. 2003 Dec;5(6):927-36. doi: 10.1016/s1534-5807(03)00369-1.