DNPM:DIP - Rare disease Model

WORK IN PROGRESS

Model components for RD use case in DNPM:DIP.

• Domain objects / DTOs

• Object generators

• CodeSystemProvider Implementations:

  • HPO (Human Phenotype Ontology): This component uses the Human Phenotype Ontology. Find out more at http://www.human-phenotype-ontology.org

  • ORDO (Orphanet Rare Disease Ontology): This uses the unmodified OWL ORDO available under CC BY 4.0 DEED license

  • Alpha-ID-SE: This uses the unmodified Alpha-ID-SE Registry

  • OMIM (Online Mendelian Inheritance in Man): This uses the unmodified, license-free OMIM entry list available at https://www.omim.org/downloads