spermatogenic failure 5

Term ID

DOID:0070183

Synonyms

• Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid
• infertility associated with multitailed spermatozoa and excessive DNA
• macrocephalic sperm head syndrome
• male infertility due to macrozoospermia
• male infertility with large-headed, multiflagellar, polyploid spermatozoa
• SPGF5

Definition

A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/17435757

References

• GARD:12385
• MESH:C562903
• OMIM:243060
• ORDO:137893
• SNOMEDCT_US_2021_09_01:236806004

Ontology

Human Disease   ( DOID:0070183 )