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spermatogenic failure 8

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene.
Uniprot Description An infertility disorder characterized by spermatogenesis failure and severe oligozoospermia.
Disease Ontology Description A male infertility characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.
Mondo Term and Equivalent IDs
MONDO:0013504:  spermatogenic failure 8
UMLS:C3151406: