Create the ontology requirements and model

[S2Ola]

The EJP ontology requirements :

• The metadata for the EJP-ontology comes from existing standards, there is need to be able to annotate the metadata with the appropriate domain ontology. Some Biobanks and registries uses The Orphanet Rare Disease Ontology (ORDO) and the Human Phenotype Ontology (HPO) ontologies for “naming” diseases e.g. “autosomal recessive limb girdle muscular dystrophy type 1”, while HPO is used for describing the clinical phenotype observed in a patient. Also, there is need to be able to capture different studies that are carried out in various researches in the Rare Diseases studies, this ontology can be used to drive search and visualisation on the Catalog Of Rare Diseases website.

Actions : Create slims of the following ontologies:

1. ORDO for the diseases ,
2. HPO for the human phenotype
3. OMIABIS for the required information in registries
4. OBI for the biomedical information focus of each registry
5. EFO for the experimental factors
6. EDAM for the data types used
7. Create the ontology upper layer model

[S2Ola]

1. Create an initial release of the EJP-RD ontology