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VarioML - Pathogenicity

Contributed by:Juha Muilu
Originally posted:19th July 2011: 12:05 pm
Last updated:22nd March 2012: 2:26 pm
Short URL:http://gen2phen.org/node/43703
Interest group icon VarioML
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Pathogenicity

 

Other information

  • Scope can be used to define scope of the pathogenicty. Possible values are: individual, family and population
  • Phenotype sub-elements give information on phenotype consequence(s) of the pathogenicity
  • Factor sub-element (ontology term) is a place holder for possible contributing factors.
  • Evidence codes and comments can be given as usual

Examples:

<pathogenicity term="non pathogenic" source="g2p" scope="population">
   <phenotype source="OMIM" accession="166210" term="osteogenesis imperfecta, type-1"/>
   <comment><text content_type="text/html"><![CDATA[HTML TEXT HERE]]></text></comment>            
</pathogenicity>

Where source g2p refers to: http://purl.org/varioml/pathogenicity/skos/1.0/#g2p

 

Ideally accession number of term should be given which is p_1001. Full URI of the term is http://purl.org/varioml/pathogenicity/skos/1.0/#p_1001

Note this is under development and there can be changes...

 

 

G2P Knowledge Centre is part of GEN2PHEN and funded by the Health Thematic Area of the Cooperation Programme of the European Commission within the VII Framework Programme for Research and Technological Development.

© GEN2PHEN 2011