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spermatogenic failure 16

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene.
Uniprot Description An infertility disorder caused by spermatogenesis defects and characterized by abnormally shaped spermatozoa in the semen of affected individuals. Most spermatozoa are made up of headless tails, while a small proportion has an abnormal head-tail junction. A few spermatozoa are made up of tailless heads.
Disease Ontology Description A male infertility characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11.
Mondo Term and Equivalent IDs
MONDO:0014961:  spermatogenic failure 16
UMLS:C4310674: