Phase 2 - Phenotypic Observation Remethylation Disorder

The dataset consists of phenotypes extracted from free-text clinical reports collected over 30 years, where individuals were referred to with suspicion of a remethylation disorder (RD). All individuals presented with elevated plasma homocysteine levels. Phentopyes annotations were extracted using a semi-automated pipeline and reviewed by at least two annotators in consultation with medical experts. The dataset is structured in RDF format and serves as a benchmark for the newly developed SPH Concept Phenotypic Observation.