ENOD

The Undiagnosed Rare Diseases Program (ENoD) was created as a collaborative management platform coordinated by the Rare Diseases Thematic Area (CIBERER) to resolve cases that remain without a genetic diagnosis after the clinical diagnostic process has been exhausted.

ENoD is supported by a database (https://enod.ciberer.es) that collects patients’ clinical information and enables symptom coding using the Human Phenotype Ontology (HPO) terminology. The database facilitates case management, the extraction of relevant information for designing new diagnostic strategies, and controlled access for users and evaluators as required.

Furthermore, the ENoD platform promotes the implementation of Genomic Medicine and provides support for other diagnostic projects, as has been done for the IMPaCT-GENóMICA infrastructure.

For more information, please contact: [email protected]