This task is especially challenging due to the diversity, complexity, and specificity of rare diseases and their phenotypes, which can have different synonyms (e.g., neurofibromatosis type I and Von Recklinghausen’s Disease), abbreviations (e.g., NF1 for neurofibromatosis type I), and modifiers such as body location (e.g., small holes in front of the ear) and severity (e.g., extreme nearsightedness). This evidence concerns the gene NF1 and neurofibromatosis type 1.