Fig. 2

The Treatabolome is a precision medicine project. Departing from deep phenotyping using HPO terms it makes the correspondence with the causative gene variant designated according to HGVS convention, enabling a precise ORDO classification of the condition. If described, the Treatabolome will point the corresponding gene and variant-specific treatment. ORDO – Orphanet Rare Diseases Ontology. HPO – Human Phenotype Ontology. HGVS – Human Genome Variation Society. GPAP – Genome-Phenome Analysis Platform from RD-Connect