Elsevier Author Aid Human Diseases Collection

-----> Human Disease Author Aid Collection combines information about rare and common diseases in standardized, easy-to-navigate overview templates and tables. It includes clinical, molecular, and pharmacological data from several Elsevier's and public sources. Tables are planned to be updated quarterly. -----> Author Aid Templates can be a helpful guide for authors, researchers, clinicians, and students, especially those interested in rare diseases, because it highlights updates and findings from several sources on one page. -----> Each disease template overview includes 6 sections: Terminology; Epidemiology/Demographics; Clinical presentation/Diagnosis; Etiology/Pathology (genetics, biomarkers, pathways); Treatment/Follow-Up; Case studies. Each subset of data is linked to a list of publications with relevant citations. -----> Monogenetic Rare Diseases (Human Disease Author Aid Collection, Part 2) In the current part, monogenetic rare diseases were chosen based on their classification, prevalence, and degree of data availability. By "monogenetic" we mean diseases that are caused by one or few known mutations. We considered worldwide point prevalence between <1/10 or 100 thousand (worldwide) as a criterion for filtering most significant rare diseases. Contents A) Curated templates about monogenetic rare diseases: • Achondroplasia • Facioscapulohumeral dystrophy • Familial Mediterranean fever • Hereditary breast and ovarian cancer syndrome • Huntington disease • Congenital hypothyroidism • Rett syndrome • Usher syndrome • Wilson’s disease • Wiskott-Aldrich syndrome B) Automatically collected information about additional 21 Rare monogenetic diseases. -----> PLEASE download files to read them and open the links!

-----> Chromosome Microdeletions Rare Disease (Author Aid Human Disease Collection, Part 3) This is an addition to Author Aid Human Disease Collection (see in Mendeley datasets). Part 3 includes available at the moment automatically generated text-mining information for the list of selected rare diseases with microdeletions. Files are planned to be updated quarterly. ----->Please download the files to read and open links!

-> The Human Disease Author Aid Collection combines information about rare and common diseases in standardized, easy-to-navigate overviews and tables. -> The Author Aid Collection includes clinical, molecular, and pharmacological data from several Elsevier and public sources. -> Author Aid Templates can be a helpful guide for authors, researchers, clinicians, and students, especially those interested in rare diseases, because they highlight the latest updates, findings, and basic disease information from several sources on one page. Contents -> The Human Disease Author Aid Collection is published in parts with 5-10 diseases grouped by therapeutic areas, except Part 1. Tables are planned to be updated with the latest metadata and citations quarterly. -> Part 1 includes opening examples for common and rare human diseases: hemophilia, phenylketonuria, alpha-1 antitrypsin deficiency, migraine, and COVID-19. -> Each disease template overview in Part 1 includes six sections: Terminology; Epidemiology/Demographics; Clinical presentation/Diagnosis; Etiology/Pathology (genetics, biomarkers, pathways); Treatment/Follow-Up; and Case studies. Each subset of data is linked to a list of publications with relevant citations.