Improved phenotypic classification of male infertility to promote discovery of genetic causes.

ABSTRACT: An increasing number of genes are being described in the context of non-syndromic male infertility. Linking the underlying genetic causes of non-syndromic male infertility with clinical data from patients is important to establish new genotype-phenotype correlations. This process can be facilitated by using universal nomenclature, but no standardized vocabulary is available in the field of non-syndromic male infertility. The International Male Infertility Genomics Consortium aimed at filling this gap, providing a standardized vocabulary containing nomenclature based on the Human Phenotype Ontology (HPO). The "HPO tree" was substantially revised compared with the previous version and is based on the clinical work-up of infertile men, including physical examination and hormonal assessment. S

SUBMITTER: Wyrwoll MJ 

PROVIDER: S-EPMC12126855 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature