The prevalence of comorbidities in individuals with neurodevelopmental disorders (NDDs) is not well understood, yet these are important for accurate diagnosis and prognosis in routine care and for characterizing the clinical spectrum of NDD syndromes. We thus developed PhenomAD-NDD, an aggregated database containing the 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 an approximation of the enrichment of symptoms. For example, such analyses of 33 genetic NDDs show that 32% of enriched phenotypes are currently not reported in the clinical synopsis in the Online Mendelian Inheritance in Man (OMIM). PhenomAD-NDD is open to all via a visualization online tool and allows us to determine the enrichment of symptoms in NDD.

神经发育障碍 (NDD) 患者合并症的患病率尚不清楚，但这些对于常规护理中的准确诊断和预后以及表征 NDD 综合征的临床谱非常重要。因此，我们开发了 PhenomAD-NDD，这是一个聚合数据库，包含 51,227 名 NDD 个体的共病表型数据，全部统一到人类表型本体 (HPO) 中，总共有 3,054 个独特的 HPO 术语。我们证明，几乎所有先天性异常在 NDD 人群中比在普通人群中更常见，并且 NDD 基线患病率可以近似丰富症状。例如，对 33 个遗传 NDD 的分析表明，在线人类孟德尔遗传 (OMIM) 的临床概要中目前未报告 32% 的富集表型。 PhenomAD-NDD 通过可视化在线工具向所有人开放，使我们能够确定 NDD 症状的丰富程度。