Data collected from Orphanet  and Online Mendelian Inheritance in Man (OMIM) are used to interpret and provide information on rare diseases. This includes names, synonyms, genes, symptom frequency, population estimates and more.

• Reference: Access aggregated data from Orphanet at Orphadata . Orphanet is an online database of rare diseases and orphan drugs. Copyright, INSERM 1997.
• Reference: OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine , Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh.

Human Phenotype Ontology (HPO) provides standard terminology that was used by Orphanet and OMIM to represent a disease's phenotypic features. HPO provides information on describing these clinical features.

• Reference: Human Phenotype Ontology Downloads  Kohler S, Gargano M. Matentzoglu N, et al., The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207-D1217.

Information also comes from the National Center for Biotechnology Information's MedGen to help in explaining genetic and rare diseases.

• Reference: MedGen Data Downloads and FTP
• Reference: MedLinePlus

The National Library of Medicine provides a Newborn Screening Coding and Terminology Guide. This data is used to determine if a newborn screening is recommended federally or by the state.

• Reference: Data from the Newborn Screening Code and Terminology Guide is available here. Downs SM, van Dyck PC, Rinaldo P, et al. Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc. 2010 Jan-Feb; 17(1):13-8

Additional information referenced in development of content also comes from the following sources:

• The National Library of Medicine. (2023). Unified Medical Language System (UMLS).
• National Academies of Sciences, Engineering, and Medicine. (2015). Improving Diagnosis in Health Care . Washington, DC: The National Academies Press.
• U.S. Department of Health and Human Services, Office of Disease Prevention and Health Promotion. (2016). Health Literacy Online: A Guide for Simplifying the User Experience.