This application provides a decision-support environment focused on a phenotypically related cluster of 11 rare disorders encompassing a total of 81 distinct phenotypic features.
The dataset is derived from eRAM (Encyclopedia of Rare Disease Annotation for Precision Medicine) by extracting the full phenotype profile of biotinidase deficiency and the set of rare diseases reported by eRAM as phenotypically similar to it. Because the source data originate from the biotinidase deficiency–centred similarity graph, phenotype overlaps between the other disorders are real but may differ slightly from those obtained by querying eRAM independently for each disease.
The system enables clinicians to:
The tool is designed to assist early recognition of rare diseases with overlapping clinical presentations, thereby facilitating diagnostic orientation prior to confirmatory genetic testing.
Diagnostic results appear at the end of the page as you select symptoms.
Select the observed patient phenotypes:
Diagnostic results will appear here as soon as you select a symptom.