is a Data Source.
The Genetic and Rare Diseases Information Center provides free, reliable, and easy-to-understand information and resources about rare and genetic diseases.
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| ID | Name | URL | Category | Format | Description |
|---|---|---|---|---|---|
| gard.portal | GARD Web Portal | rarediseases.info.nih.gov | Documentation | http | Public GARD website for disease summa... |
| ID | Name | URL | Category | Format | Relation | Description |
|---|---|---|---|---|---|---|
| obo-db-ingest.gard.tsv | gard Nodes TSV | gard.tsv (307.1 KB) | Product | tsv | had primary source | gard Nodes TSV |
| genecards.web.interface | GeneCards Web Interface | www.genecards.org | Graphical Interface | http | had primary source | Web-based interface for searching and... |
| ncatsgardkg.graph | NCATS GARD Knowledge Graph | processed | Graph | http | had primary source | Integrated rare-disease knowledge gra... |
| medgen.id-mappings | MedGen ID Mappings | MedGenIDMappings.txt.gz (5.5 MB) | Mapping | txt | had primary source | Mappings between MedGen CUIs and exte... |
| medgen.csv | CSV Data Files | csv | Product | csv | had primary source | CSV format data files directory with ... |
| obo-db-ingest.gard.obo | gard OBO | gard.obo (268.8 KB) | Product | obo | had primary source | gard OBO |
| obo-db-ingest.gard.owl | gard OWL | gard.owl (333.0 KB) | Product | owl | had primary source | gard OWL |
| obo-db-ingest.gard.json | gard OBO Graph JSON | gard.json (325.3 KB) | Product | json | had primary source | gard OBO Graph JSON |
GARD is an NCATS/NIH information service that helps patients, families, and clinicians find current, reliable information and support resources for rare and genetic diseases.
The service combines a large browseable disease catalog with a contact center staffed by information specialists, making it both a public information portal and a curated referral resource for people navigating diagnosis, care, research, and support options in the rare disease community.
Created: February 26, 2026 | Last modified: September 23, 2026