Details of Disease

General Information of Disease (ID: DISWJ0Q4)

Disease Name Spermatogenic failure 47
Synonyms SPGF47; spermatogenic failure 47
Disease Hierarchy
DIS3D1AI: Spermatogenic failure
DISWJ0Q4: Spermatogenic failure 47
Disease Identifiers
MONDO ID
MONDO_0030844
UMLS CUI
C5436818
OMIM ID
619102
MedGen ID
1721477

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
DZIP1 OTBVPO66 Limited Autosomal recessive [1]
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References

1 Homozygous mutations in DZIP1 can induce asthenoteratospermia with severe MMAF. J Med Genet. 2020 Jul;57(7):445-453. doi: 10.1136/jmedgenet-2019-106479. Epub 2020 Feb 12.