🧬 Rare Disease Datasets

📥 Load this index

# Python (rdflib)
from rdflib import Graph
g = Graph()
g.parse("https://fdp.semscape.org/ga4gh-rare-disease-trajectories/diseases/index.ttl")

# R (rdflib)
library(rdflib)
url <- "https://fdp.semscape.org/ga4gh-rare-disease-trajectories/diseases/index.ttl"
rdf <- rdf_parse(url, format="turtle")

# curl
curl https://fdp.semscape.org/ga4gh-rare-disease-trajectories/diseases/index.ttl

🔎 Query all diseases at once

PREFIX dcat:    <https://www.w3.org/ns/dcat#>
PREFIX dcterms: <http://purl.org/dc/terms/>
PREFIX ordo:    <http://www.orpha.net/ORDO/Orphanet_>

# List all diseases + their ORDO ID
SELECT ?disease ?title ?ordo WHERE {
  ?disease a dcat:Dataset ;
           dcterms:title ?title .
  OPTIONAL { ?disease dcterms:subject ?ordo .
    FILTER(STRSTARTS(STR(?ordo),
      "http://www.orpha.net")) }
}