Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.

ABSTRACT:

Background

Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. However, to date, the use of HPO has not yet been widely implemented in the field of inborn errors of immunity (IEIs), mainly due to a lack of comprehensive IEI-related terms.

Objectives

We sought to systematically review available terms in HPO for the depiction of IEIs, to expand HPO, yielding more comprehensive sets of terms, and to reannotate IEIs with HPO terms to provide accurate, standardized phenotypic descript

SUBMITTER: Haimel M 

PROVIDER: S-EPMC9346194 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature