PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders

Abstract

AbstractThe prevalence of comorbidities in individuals with neurodevelopmental disorders (NDD) is not well understood, while these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of NDD syndromes. Therefore, we developed PhenomAD-NDD: an aggregated database with comorbid phenotypic data of 51,227 individuals with NDD, all harmonized into Human Phenotype Ontology (HPO), with in total 3,054 unique HPO terms. We demonstrate that almost all congenital anomalies are more prevalent in the NDD population than in the general population and the NDD baseline prevalence allows for approximation of enrichment of symptoms. Such analyses for 33 genetic NDDs for instance shows that 32% of enriched phenotypes is currently not reported in the clinical synopsis in OMIM. PhenomAD-NDD is open to all via a visualization online tool and allows to determine enrichment of symptoms in NDD.