Rare Disease Lookup — OMIM + Orphanet + MedGen API
Pricing
$7.50 / 1,000 results
Rare Disease Lookup — OMIM + Orphanet + MedGen API
Search rare diseases via NCBI MedGen. Returns disease name, definition, synonyms, semantic type and cross-references to OMIM, Orphanet and SNOMED CT.
Pricing
$7.50 / 1,000 results
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Rare Disease Scraper (NCBI MedGen)
Search rare and genetic diseases via NCBI MedGen — the NCBI resource for medical genetics concepts. Returns disease name, definition, semantic type, synonyms and cross-references to OMIM, Orphanet and SNOMED CT. No API key required.
Features
- Searches NCBI MedGen (covers 400,000+ medical genetics concepts)
- Returns OMIM, Orphanet and SNOMED CT identifiers for cross-referencing
- Extracts all known synonyms from the concept metadata
- Covers rare diseases, syndromes, and genetic conditions
- No registration or API key needed
Input
| Field | Type | Required | Default | Description |
|---|---|---|---|---|
searchTerm | string | ✅ | — | Disease name, e.g. marfan syndrome or cystic fibrosis |
maxResults | integer | 50 | Max records (1–5,000) |
Output
Use Cases
1. Rare Disease Registry Enrichment
A patient advocacy organization building a rare disease registry inputs 500 disease names and retrieves OMIM, Orphanet, and SNOMED IDs for all of them — enabling interoperability with clinical databases and EHR systems.
2. Clinical Genomics Pipeline
A hospital genetics lab integrates this actor into their variant interpretation pipeline: when a new variant is identified, the associated gene's known disease concepts are retrieved from MedGen for phenotype matching.
3. Pharmaceutical Market Research
A biotech analyst queries all MedGen concepts related to lysosomal storage to compile a comprehensive list of rare diseases in the space — with OMIM cross-references linking to prevalence and inheritance data for market sizing.
Data Source
NCBI MedGen E-utilities API — NCBI/NIH, no API key required. MedGen integrates data from OMIM, Orphanet, SNOMED CT, GTR and ClinVar.
Pricing
Pay-per-result. 100 diseases ≈ $0.50–$1.00.
