More than 4,000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the disease and direct care. Unfortunately, it can be challenging to find information concerning treatment for rare diseases as key details are scattered across a number of authoritative websites and numerous journal articles. The website and associated mobile device application described in this article begin to address this challenge by providing a convenient, readily available starting point to find treatment information. The site, Rx-genes.com (https://www.rx-genes.com/), is focused on those conditions where the treatment is directed against the mechanism of the disease and thereby alters the natural history of the disease. The website currently contains 633 disease entries that include references to disease information and treatment guidance, a brief summary of treatments, the inheritance pattern, a disease frequency (if known), nonmolecular confirmatory testing (if available), and a link to experimental treatments. Existing entries are continuously updated, and new entries are added as novel treatments appear in the literature.

中文翻译：

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可治疗遗传疾病的在线纲要

超过 4,000 个基因与可识别的孟德尔/单基因疾病有关。当面临一种罕见遗传疾病的新诊断时，医疗保健提供者越来越多地转向互联网资源获取信息以了解该疾病和直接护理。不幸的是，很难找到有关罕见病治疗的信息，因为关键细节分散在许多权威网站和大量期刊文章中。本文中描述的网站和相关的移动设备应用程序通过提供一个方便、现成的起点来查找治疗信息，开始应对这一挑战。该网站，Rx-genes.com (https://www.rx-genes.com/)，专注于治疗针对疾病机制并因此改变疾病自然史的那些病症。该网站目前包含 633 个疾病条目，其中包括对疾病信息和治疗指南的引用、治疗的简要总结、遗传模式、疾病频率（如果已知）、非分子确认测试（如果可用）以及实验治疗的链接。现有条目会不断更新，并随着文献中出现新的治疗方法而添加新条目。和实验治疗的链接。现有条目会不断更新，并随着文献中出现新的治疗方法而添加新条目。和实验治疗的链接。现有条目会不断更新，并随着文献中出现新的治疗方法而添加新条目。