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spermatogenic failure 6

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene.
Uniprot Description An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon.
Disease Ontology Description A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26.
Mondo Term and Equivalent IDs
MONDO:0007060:  spermatogenic failure 6
SCTID:236818008: