Details of Disease

General Information of Disease (ID: DISM0FV1)

Disease Name Spermatogenic failure 36
Synonyms SPERMATOGENIC FAILURE 36; SPGF36
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISM0FV1: Spermatogenic failure 36
Disease Identifiers
MONDO ID
MONDO_0032739
UMLS CUI
C5193086
OMIM ID
618420
MedGen ID
1678385

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
PPP2R3C OT7E6V9B Limited Autosomal dominant [1]
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References

1 PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans. Eur J Endocrinol. 2019 May 1;180(5):291-309. doi: 10.1530/EJE-19-0067.