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spermatogenic failure 10

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene.
Uniprot Description An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. The most prominent feature is a defective sperm annulus, a ring structure that demarcates the midpiece and the principal piece of the sperm tail.
Disease Ontology Description A male infertility characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13.
Mondo Term and Equivalent IDs
MONDO:0013901:  spermatogenic failure 10
UMLS:C3553793: