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monarch-initiative / omim

Data ingest pipeline for OMIM.
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Acronyms should get ABBREVIATION tag #22

Open matentzn opened 2 years ago

matentzn commented 2 years ago

This is an example in OBO format:

[Term]
id: MONDO:0000050
name: isolated congenital growth hormone deficiency
synonym: "ICGHD" EXACT ABBREVIATION [MONDO:cjm]

An example in turtle:

[ rdf:type owl:Axiom ;
   owl:annotatedSource <http://purl.obolibrary.org/obo/MONDO_0000141> ;
   owl:annotatedProperty <http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> ;
   owl:annotatedTarget "MVA1"^^xsd:string ;
   <http://www.geneontology.org/formats/oboInOwl#hasDbXref> "NCIT:C128192"^^xsd:string ;
   <http://www.geneontology.org/formats/oboInOwl#hasSynonymType> <http://purl.obolibrary.org/obo/mondo#ABBREVIATION>
 ] .

(this needs a reified RDF expression such as the example above, sorry).