DDIEM: Drug Database for Inborn Errors of Metabolism

Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield, Robert Hoehndorf, bioRxiv 2020.01.08.897223; doi: doi:10.1101/2020.01.08.897223

We gathered data on therapeutic strategies for 299 diseases into the Drug Database for Inborn Errors of Metabolism (DDIEM), (FA included). Therapeutic approaches, including both successful and ineffective treatments, were manually classified by their mechanisms of action using a new ontology. Conclusions: We present a manually curated, ontologically formalized knowledgebase of drugs, therapeutic procedures, and mitigated phenotypes.

DDIEM: Drug Database for Inborn Errors of Metabolism