Rare Disease Lookup — OMIM + Orphanet + MedGen API avatar

Rare Disease Lookup — OMIM + Orphanet + MedGen API

Pricing

$7.50 / 1,000 results

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Rare Disease Lookup — OMIM + Orphanet + MedGen API

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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azureblue

azureblue

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1

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18 days ago

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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

FieldTypeRequiredDefaultDescription
searchTermstringDisease name, e.g. marfan syndrome or cystic fibrosis
maxResultsinteger50Max records (1–5,000)

Output

{
"uid": "1842966",
"conceptId": "C5681015",
"name": "Marfan and Marfan-related disorder",
"definition": null,
"semanticType": "Disease or Syndrome",
"synonyms": ["Marfan syndrome and Marfan-related disorders", "MFS", "FBN1-related disorders"],
"omimId": "154700",
"orphanetId": "558",
"snomedId": "19346006",
"url": "https://www.ncbi.nlm.nih.gov/medgen/1842966"
}

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.