Rare Disease Lookup — OMIM + Orphanet + MedGen API
Pricing
$7.50 / 1,000 results
Search rare diseases via NCBI MedGen. Returns disease name, definition, synonyms, semantic type and cross-references to OMIM, Orphanet and SNOMED CT.
You can access the Rare Disease Lookup — OMIM + Orphanet + MedGen API programmatically from your own applications by using the Apify API. You can also choose the language preference from below. To use the Apify API, you’ll need an Apify account and your API token, found in Integrations settings in Apify Console.
$echo '{< "searchTerm": "fabry disease"<}' |<apify call azureblue/rare-disease-scraper --silent --output-datasetThe Apify CLI is the official tool that allows you to use Rare Disease Lookup — OMIM + Orphanet + MedGen API locally, providing convenience functions and automatic retries on errors.
Using installation script (macOS/Linux):
$curl -fsSL https://apify.com/install-cli.sh | bashUsing installation script (Windows):
$irm https://apify.com/install-cli.ps1 | iexUsing Homebrew:
$brew install apify-cliUsing npm:
$npm install -g apify-cliOther API clients include: