The Hereditary Ontology for Phenoclinical Data (HERO-Phenoclinical)

The Clinical Data Modeling is based on the BrainTeaser Ontology (BTO) [Faggioli et al., 2024]. We followed the same event-based structure but added some properties and classes to include useful information to our use case. In particular, we added a class to represent the affiliated Socio-Health Local Authority (ULSS in Italy) for each patient, one for risk factors, and some properties for MS relapses. The biggest changes are in the Diagnostic Procedure area, where we included several new tests both for ALS and MS patients. The clinical course of ALS and MS patients is organized into eight semantic areas, each denoting a set of ontological classes: “Patient" with “Environmental Data", “Event", “Activity", “Contingencies", and “Intervention or Procedures", divided into “Surgical Procedures", “Diagnostic Procedures", and “Therapeutic Procedures".