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期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-024-03005-7

摘要内容如下：

神经发育障碍（NDD）患者的共病患病率尚不清楚，但这些共病对于常规护理中的准确诊断和预后以及描述NDD综合征的临床分型非常重要。因此，我们开发了Phenomad-NDD，这是一个聚合数据库，包含51，227名患有NDD的个体的共病表型数据，所有这些数据都统一到人类表型本体论（HPO）中，总共有3，054个独特的HPO术语。我们证明，几乎所有的先天性异常在NDD人群中比在普通人群中更普遍，并且NDD基线患病率允许近似的症状富集。例如，对33个遗传NDD的分析表明，32%的富集表型目前未在在线人类孟德尔遗传（OMIM）的临床概要中报告。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。

英文原文如下：

Abstracts

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.

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