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Tools for the standardized collection of rare-disease phenotypes include PhenoTips 21 and PhenoDB 22 in addition to a phenotyping survey designed for patients in the ClinGen patient registry called GenomeConnect , as described below.

ClinGen has launched a growing number of clinical-domain working groups, with the initial set covering cardiovascular disease, hereditary cancer, somatic cancer, metabolic disease, and pharmacogenomics, with others in the planning stages Fig.