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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

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

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