Bilateral posterior scleritis due to giant cell arteritis.

A woman aged mid 70s with mild learning difficulty presented with eye symptoms, headache and shoulder pains. She was found to have bilateral posterior scleritis secondary to giant cell arteritis. Posterior scleritis is a potentially blinding condition, with ambiguous symptoms and signs, therefore diagnosis is commonly delayed.

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Summary: Phenopolis is an open-source web server providing an intuitive interface to genetic and phenotypic databases. It integrates analysis tools such as variant filtering and gene prioritization based on phenotype. The Phenopolis platform will accelerate clinical diagnosis, gene discovery and encourage wider adoption of the Human Phenotype Ontology in the study of rare genetic diseases.