Orphanet Ontology of Rare Diseases

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''

Data and Resources

Additional Info

Field Value
Source http://bioportal.bioontology.org/ontologies/1586
Author Ferdinand Dhombres
Maintainer BioPortal project on behalf of ontology owner.
Last Updated October 10, 2013, 19:59 (UTC)
Created May 18, 2012, 18:13 (UTC)
links:bioportal-acgt 14
links:bioportal-air 41
links:bioportal-bdo 824
links:bioportal-biomodels 21
links:bioportal-birnlex 71
links:bioportal-canco 329
links:bioportal-cco 108
links:bioportal-csp 587
links:bioportal-cst 190
links:bioportal-ctcae 58
links:bioportal-ctx 12
links:bioportal-doid 1056
links:bioportal-efo 314
links:bioportal-ehda 17
links:bioportal-ev 75
links:bioportal-galen 253
links:bioportal-go_x1 12
links:bioportal-go_x2 12
links:bioportal-hl7 15
links:bioportal-hp_x1 666
links:bioportal-icd10 287
links:bioportal-icd10cm 629
links:bioportal-icd9cm 296
links:bioportal-icnp 17
links:bioportal-icpc 20
links:bioportal-icpc2p 262
links:bioportal-idomal 12
links:bioportal-imr 49
links:bioportal-lnc 199
links:bioportal-mccl 23
links:bioportal-mccl_x1 728
links:bioportal-mdr 1054
links:bioportal-medlineplus 227
links:bioportal-mesh-owl 3893
links:bioportal-mp 217
links:bioportal-mpath 88
links:bioportal-msh 2684
links:bioportal-natpro 744
links:bioportal-nbo 11
links:bioportal-ncit 1599
links:bioportal-ndfrt 1124
links:bioportal-nif 1456
links:bioportal-nif_dysfunction 109
links:bioportal-ogmd 19
links:bioportal-omim 3207
links:bioportal-omit 16
links:bioportal-pdq 110
links:bioportal-pedterm 41
links:bioportal-pr 616
links:bioportal-rcd 1371
links:bioportal-rid 346
links:bioportal-snomedct 3477
links:bioportal-sopharm 337
links:bioportal-sso 11
links:bioportal-vo 11
links:bioportal-who 155
published-via http://sparql.bioontology.org
sparql-named-graph http://bioportal.bioontology.org/ontologies/ONTOORPHA
triples 367109
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