spermatogenic failure 8
MONDO:0013504Mondo
Findings
No curated finding names spermatogenic failure 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013504), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NR5A1HGNC:7983
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
Where it sits
Other names
3 names
Resolves to: spermatogenic failure 8
- Also called
- azoospermia caused by mutation in NR5A1NR5A1 azoospermiaspermatogenic failure type 8