Details of Disease | DrugMAP

General Information of Disease (ID: DISU4WQ1)

Disease Name	Spermatogenic failure 46
Synonyms	SPGF46
Disease Hierarchy	DIS3D1AI: Spermatogenic failure DISU4WQ1: Spermatogenic failure 46
Disease Identifiers	MONDO ID MONDO_0033673 UMLS CUI C5436799 OMIM ID 619095 MedGen ID 1726728

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
DNAH8	OTGES2OU	Strong	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.