OMIM phenotype entries are linked to Clinical Synopses. These tabular lists of clinical features of a disorder are organized anatomically and are created for use primarily by clinicians. Because OMIM defines a phenotype down to the gene that is mutated in the disorder, the features in the synopsis are restricted to patients with the specific phenotype. Clinicians and researchers interested in comparing the clinical features of multiple phenotypes can now view synopses side by side (Figure 2). They can also view the Clinical Synopses of members of a Phenotypic Series in this way. These side-by-side anatomical comparisons of clinical features based on the molecular basis of the disorders inform clinicians about particular prognoses or treatments for their patients, adding to more personalized care. The clinical features in the synopses are linked to controlled vocabularies such as the Unified Medical Language System (UMLS) (4), Human Phenotype Ontology (HPO) (5), International Classification of Diseases (ICD), Disease Ontology (DO) (6) and Orphanet (7) codes. A toggle button to view these ‘Feature IDs’ is provided at the top of the Clinical Synopsis full-page view. Comparing clinical synopses is covered in OMIM’s online video tutorials and a chapter in Current Protocols in Bioinformatics (8).
