TABLE 1.
Comparison of several online resources for clinical/phenotypic data for rare genetic syndromes
| Source | Description and aim of database | Focus | Collecting unpublished patient data | Data stored in HPO | Easy display of collected data | Specialized moderators for each gene |
|---|---|---|---|---|---|---|
| LOVD (Fokkema et al., 2011) | Freely available web‐based software for the collection, display, and curation of DNA variants in locus‐specific databases. | Genotype/phenotype | + | ± | − | + |
| HGMD (Stenson et al., 2003) | An attempt to collate all known (published) gene lesions responsible for human inherited disease. | Genotype | − | − | − | − |
| DECIPHER (Firth et al., 2009) | An interactive web‐based database that incorporates a suite of tools designed to aid in the interpretation of genomic variants. | Genotype/phenotype | + | + | + | − |
| OMIM (Amberger et al., 2014) | A continuously updated catalog of human genes and genetic disorders and traits, with particular focus on the relationship between genetic variation and phenotypic expression. | Phenotype | − | ± | − | − |
| GeneReviews (Adam et al., 2010) | An international point‐of‐care resource for clinicians providing clinically relevant and medically actionable information for inherited conditions in a standardized format. | Phenotype | − | − | + | + |
| OrphaNet (Weinreich et al., 2008) | A unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. | Phenotype | − | + | − | − |
| Monarch Initiative (Mungall et al., 2017) | An integrative data and analytic platform connecting phenotypes to genotypes across species, bridging basic and applied research with semantics‐based analysis. | Genotype/phenotype | + | + | − | − |
| ClinGen (Rehm et al., 2015) | A central resource that defines the clinical relevance of genes and variants for use in precision medicine and research. | Genotype | − | − | − | − |
| HDG website series | A platform providing up‐to‐date clinical data for novel rare genetic disorders, using published and unpublished data. | Genotype/phenotype | + | + | + | + |