April-2018 

HPO - ORDO Ontological Module (HOOM) sparql

HOOM is a module that qualifies the annotation between a clinical entity and phenotypic abnormalities (by using the Human Phenotype Ontology (HPO)) according to a frequency and by integrating the notion of diagnostic criterion.
Hoom is maintained by Orphanet (INSERM, US14).
CONTACT Subscribe to the ORDO list : ordo-users.orphanet

Direct access to our sparql endpoint

http://www.orpha.net/sparql

Example Of Queries

Our sparql Endpoint is in a beta test phase. Beware if you want to use it in a production environment

  • From an Orphanumber, getting the disease label, its associated HPO IDs with related frequencies, sources and dates of the created associations.
  • send the query



  • Get the number of Disorder-HPO associations.
  • send the query



    HOOM Docker Image

    A Blazegraph Docker image which embed HOOM is available here in order to play local queries.
    Blazegraph is a standards-based, high-performance, scalable, open-source graph database and written entirely in Java.
    For more information, see Blazegraph website.

    A Linux host is prerequisite, with Docker machine installed.
    More informations about running the HOOM container are available in the userguide.

      

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