You are using an outdated browser. Please upgrade your browser to improve your experience.

spermatogenic failure 12

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene.
Uniprot Description An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Non-obstructive azoospermia, oligozoospermia and oligo-astheno-teratozoospermia are features observed in SPGF12 patients.
Disease Ontology Description A male infertility characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26.
Mondo Term and Equivalent IDs
MONDO:0014172:  spermatogenic failure 12
UMLS:C3809427: