Rare disease databases
GARD
Genetic and Rare Diseases Information Center
"The NIH's plain-language portal for 6,500+ rare conditions."
About the resource
GARD — the Genetic and Rare Diseases Information Center — is the NIH National Center for Advancing Translational Sciences' (NCATS) public-facing rare-disease information service. It publishes plain-language summaries on more than 6,500 rare conditions covering symptoms, cause, diagnosis, treatments, prognosis, prevalence, current research and where to find an expert.
Every summary cross-references Orphanet, OMIM, Mondo, the GeneReviews series and clinical-trial registries. GARD also operates a free information specialist service — patients, families and clinicians can email or call with specific questions. The dataset is published as Linked Data under CC0.
What you'd use it for
- 01Hand a patient or family a plain-language primer on a new diagnosis
- 02Find expert centres or trials for a specific rare condition in the U.S.
- 03Pull GARD identifiers into a knowledge graph as an English-language anchor
- 04Direct callers to the GARD information specialist service
How you access it
Web UILinked Data (RDF)REST API