Genetic variation is the foundation of human diversity, enabling differences in traits such as height, eye color, or blood type. Some sequence variants also cause inherited diseases, including sickle ...

Disease classifications (nosologies) are used ubiquitously in academic medicine, human genetics, the health industry, and economics. Much like any library's content catalog, disease taxonomies strive ...

Disorders of sex development (DSDs) are defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical Mutations in genes that encode transcription factors, ...