To define the baseline prevalence of clinical comorbid features in pediatric individuals with neurodevelopmental disorders (NDD), we have developed PhenomAD-NDD. It currently has clinical data of 51,227 individuals with NDD with in total 3,054 HPO-terms.
Using PhenomAD, it is possible to look up your HPO term/clinical feature of interest, by putting it in the search bar at the top of the page. The HPO term of interest will be brought into focus. Hovering over the HPO term will display the HPO term, HPO ID and prevalence of that clinical feature in PhenomAD-NDD, our cohort in Nijmegen and the data from the literature. The structure of the visualization is derived from the structure of the HPO terms: so child nodes in HPO are connected in PhenomAD-NDD as well.
In addition, we have developed an enrichment tool to perform in-depth analysis into the prevalence of clinical features in NDD. With this tool you can analyze the enrichment of specific clinical features in NDD syndromes compared to the general NDD population.
In this manner, we aim to evaluate the prevalence of every comorbid clinical feature in this patient population and make these available to all.