Figure 1From: Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of cerebrotendinous xanthomatosis Steps required to answering questions on phenotype-genotype relationships. The figure includes an example showing the genetic variants that have been identified in patients with childhood-onset chronic diarrhea (i.e., p.Q230X, p.R395C, p.R405W and p.T343R).Back to article page