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spermatogenic failure 11

Disease Summary
Associated Targets (1)
Tdark

1


Mondo Description Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene.
Uniprot Description An infertility disorder caused by spermatogenesis defects. It results in decreased sperm motility, concentration, and multiple sperm structural defects. Oligozoospermia is usually observed in SPGF11 patients. In addition to oligozoospermia, teratozoospermia and moderate asthenozoospermia is observed in some cases.
Disease Ontology Description A male infertility characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21.
Mondo Term and Equivalent IDs
MONDO:0014037:  spermatogenic failure 11
UMLS:C3554453: