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Investigate missing MONDO xrefs #67
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Let me know what you find out. I would like to suggest that we should prefer the skos matches for populating the search index, but we will anyways drop all non-exact xrefs in future releases of Mondo, which means that the effect is the same. |
OK, it looks like MONDO classes still have their corresponding OMIM Example for MONDO:0026765, the ID in the linked monarch-app issue: <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0026765">
<obo:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</obo:IAO_0000233>
<oboInOwl:hasDbXref>OMIM:301045</oboInOwl:hasDbXref>
<oboInOwl:hasExactSynonym>congenital disorder of glycosylation, type IIr, X-linked recessive</oboInOwl:hasExactSynonym>
<oboInOwl:hasRelatedSynonym>CDG IIr</oboInOwl:hasRelatedSynonym>
<oboInOwl:hasRelatedSynonym>CDG2R</oboInOwl:hasRelatedSynonym>
<oboInOwl:hasRelatedSynonym>CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr</oboInOwl:hasRelatedSynonym>
<oboInOwl:id>MONDO:0026765</oboInOwl:id>
<oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#inferred_rare"/>
<oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
<rdfs:label>congenital disorder of glycosylation, type IIr</rdfs:label>
<skos:exactMatch rdf:resource="https://omim.org/entry/301045"/>
</rdf:Description> I'm assuming that the linked issue here (monarch-initiative/mondo#4521) is unrelated as it's about name discrepancies and the map is still defined here as expected. |
Will look in KG-Phenio next. |
Describe the bug
In reference to monarch-initiative/monarch-app#652 -
MONDO identifiers don't appear to have their corresponding OMIM IDs, or at least they don't end up in the Monarch KG.
They may go missing here or in KG-Phenio.
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