OBJECTIVES: To characterize a population-based cohort of patients with Gaucher disease (GD) relative to the general population and assesses socio-demographic and clinical differences by disease severity as defined by use of enzyme replacement therapy (ERT). METHODS: A cross-sectional study was conducted using the Clalit Health Services’ (Clalit) electronic health record (EHR) database to identify the prevalence of GD cases as of 30/6/2014. Cases were identified using a combination of International Classification of Diseases codes, 9^th revision and associated free text, internally and externally validated registries, laboratory tests, and medication use. Demographics and clinical characteristics are presented for all GD patients by ERT initiation (+/-) and for the general Clalit population. Differences by ERT initiation were tested using chi-square tests. RESULTS: We identified 500 GD patients in the Clalit database as of the index date. The prevalence of GD ranged from 5.3 per 100,000 for members aged ≤34 years old to 20.2 per 100,000 in ≥35-year-olds. The majority of GD patients were ≥18 years old (91.6%), female (54.0%), and of higher socioeconomic status relative to the general Clalit population (GD=34.8% vs. Clalit=19.0%). The prevalence of overweight/obesity was 51.0% among GD patients and 46.5% among all Clalit members. Only 35.0% of GD patients had a Charlson Comorbidity Index (CCI)<1 compared with 68.2% in the general population. Among GD patients, no differences were observed by ERT initiation status for socio-demographic or clinical characteristics with the exception of CCI<1 (ERT+=19.9% vs. ERT-=45.6%; p<0.001). Prior to ERT treatment, anemia, thrombocytopenia and hepatomegaly were more common in ERT+ than ERT- patients (p<0.02). CONCLUSIONS: This is the first study to have detailed socio-economic and clinical data on a large GD cohort using a comprehensive real-time EHR database. Establishing such a cohort is critical to understanding disease burden and outcomes in a real-world population.