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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0070178
OMIM:614822
UMLS:C3553793
MONDO:0013901
High level summary of knowledge for a disease, including descriptions and datasource references.