- Over a 1000 genes have been adopted by 400+ moderators
The aim of the HDG website series is to have a central online resource in which the most up-to-date clinical information of patients with a defect in a specific gene is collected and accessible.
Each website not only provides general clinical and molecular overviews, but also allows collection of phenotypic data on novel patients using standardized Human Phenotype Ontology (HPO)-based terminology (kindly provided by Peter N Robinson; see Robinson (2008); Köhler (2021)), accessible through an easy online interface.
By using HPO terms, the data is collected in a standarized way and can be used to compare the phenotype between syndromes. This adds value for clinicians and researchers as well - thereby accelerating research for these novel, rare, genetic syndromes.
This complete endeavour is therefore designated to improve the available knowledge, research efforts and ultimately clinical care for patients with rare genetic disorders and their families - in a non-profit, academic manner.