Background Accurate, detailed, and standardized phenotypic descriptions are essential to
support diagnostic interpretation of genetic variants and to discover new diseases. The …

Introduction Accurate and standardized phenotypic descriptions are essential in diagnosing
rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) …

Human inborn errors of immunity (IEI) comprise a group of diseases resulting from molecular
variants that compromise innate and adaptive immunity. Clinical features of IEI patients are …

Abstract Since 2013, the International Union of Immunological Societies (IUIS) expert
committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic …

Abstract The Human Phenotype Ontology (HPO)—a standardized vocabulary of phenotypic
abnormalities associated with 7000+ diseases—is used by thousands of researchers …

The Human Phenotype Ontology (HPO) is widely used in the rare disease community for
differential diagnostics, phenotype-driven analysis of next-generation sequence-variation …

Enabling discovery across the spectrum of rare and common diseases requires the
integration of biological knowledge with clinical data; however, differences in terminologies …

The advent of next-generation sequencing (NGS) in 2010 has transformed medicine,
particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery …

Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

Inborn errors of immunity (IEI) include a large group of inherited diseases sharing either
poor, dysregulated, or absent and/or acquired function in one or more components of the …