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| Ontology Id | 1586 |
|---|---|
| Acronym | OntoOrpha |
| Visibility | Public |
| BioPortal PURL | http://purl.bioontology.org/ontology/OntoOrpha |
| Status | Beta |
| Format | OWL |
| Categories |
Human
Vocabularies Taxonomic Classification Phenotype Health Biomedical Resources Protein |
| Groups | |
| Contact | Ferdinand Dhombres, ontology.orphanet@inserm.fr |
| Home Page | www.orphadata.org |
| Publications Page | |
| Documentation Page | |
| Description |
OntoOrpha is an ontology of Rare Diseases that includes clinical signs (phenotypes) and genes. The full Orphanet nomenclature (labels, synonyms) is provided in six languages with external references annotations (ICD, OMIM, HGNC, Genatlas, Swissprot). This version now includes epidemiology data related to rare diseases in Europe (class of prevalence, average age of onset, average age at death) extracted from the literature.
Part of an ongoing research project, this ontology is developed to support editorial procedures of Orphanet knowledge bases and services. Current alpha version is under active development. The version provided on bioportal contains only the main english labels. A version on the ontology with the full nomenclature of rare diseases (labels and synonyms in 6 languages based on skos annotations) is available on demand. 
OntoOrpha is available under Creative Commons license ''Attribution-Non-Commercial-No Derivative Works 3.0'' |
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Versions
| Version | Release Date | Upload Date | Downloads |
|---|---|---|---|
| lite_2012-10-02 | 02/10/2012 | 10/22/2012 | Ontology / Diff |
| lite_2012-10-02 | 06/17/2011 | 10/22/2012 | Ontology |
| lite_2012-04-24 | 06/17/2011 | 04/25/2012 | Ontology |
| lite_2011-06-17 | 06/17/2011 | 06/17/2011 | Ontology |
| 2011-03-02 | 05/28/2011 | 03/02/2011 | Ontology Homepage |
| more... | |||
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| Project | Description | People | Institution |
|---|---|---|---|
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OntoCAT
|
High level abstraction API (Java/REST/R) for interacting with o...
High level abstraction API (Java/REST/R) for interacting with ontology resources including local ontology files in standard OWL and OBO formats (via OWL API) and public ontology repositories: EBI Ontology Lookup Service (OLS) and NCBO BioPortal.
|
Tomasz Adamus...
Tomasz Adamusiak, Helen Parkinson, Natalja Kurbatova, Misha Kapushesky, Morris Swertz
|
EMBL-EBI, University of Groningen |
|
OntoMaton
|
OntoMaton is a google spreadsheet application allowing for onto...
OntoMaton is a google spreadsheet application allowing for ontology search and tagging directly within google spreadsheets.
More information can be found here: https://github.com/ISA-tools/OntoMaton
|
ISA team
ISA team
|
Oxford University |
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