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PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders
2023-11-30
genetic and genomic medicine
Title + abstract only
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The 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 con...
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