Fenotips

Fenotips is a web-based, open-source platform designed to capture, organize, and share clinical phenotypes. It is used in human genetics and rare-disease research to standardize phenotypic data through ontologies such as the Human Phenotype Ontology (HPO). The system supports structured entry of patient features, ontology-driven search, and storage of patient records with associated notes and metadata.

The platform emphasizes a workflow that allows users to annotate patients with HPO terms, record onset and progression, and link phenotypes to genotypic information or variants. It provides data import and export options, supports project-based collaboration, and implements access controls and consent-driven sharing of de-identified data. Fenotips is designed for interoperability with other health and research data systems, offering standard formats and APIs to connect with electronic health records and laboratory information systems.

Fenotips is widely used by clinicians, geneticists, and research consortia for variant interpretation, cohort building, and cross-study analyses. By enabling a common vocabulary and structured data capture, the platform facilitates data reuse, meta-analyses, and reanalysis as new knowledge about phenotypes emerges.

The project is open source and community-driven, with documentation and source code available in public repositories. It can be deployed on local servers or hosted in the cloud, depending on an organization’s needs and privacy requirements.