cell-free DNA testing issue #623

monarch-initiative · Jul 25, 2024 · 3b0ac8b · 3b0ac8b
1 parent 8b557fe
commit 3b0ac8b
Showing 1 changed file with 10 additions and 0 deletions.
diff --git a/src/ontology/maxo-edit.owl b/src/ontology/maxo-edit.owl
@@ -999,6 +999,7 @@ Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001613>))
 Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001614>))
 Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001615>))
 Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001616>))
+Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0001620>))
 Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0009003>))
 Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0009004>))
 Declaration(Class(<http://purl.obolibrary.org/obo/MAXO_0009005>))
@@ -5535,6 +5536,7 @@ AnnotationAssertion(<http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.ob
 AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0000530> "2020-03-17T20:04:20Z"^^xsd:dateTime)
 AnnotationAssertion(dcterms:creator <http://purl.obolibrary.org/obo/MAXO_0000530> <http://orcid.org/0000-0001-7941-2961>)
 AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasExactSynonym> <http://purl.obolibrary.org/obo/MAXO_0000530> "carrier screening")
+AnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym> <http://purl.obolibrary.org/obo/MAXO_0000530> "expanded carrier screening")
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0000530> "genetic carrier screening"@en)
 SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0000530> <http://purl.obolibrary.org/obo/MAXO_0000127>)
 
@@ -11556,6 +11558,14 @@ AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001616> "2024
 AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001616> "methylation testing")
 SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001616> <http://purl.obolibrary.org/obo/MAXO_0000127>)
 
+# Class: <http://purl.obolibrary.org/obo/MAXO_0001620> (cell-free DNA screening)
+
+AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "genome.gov") <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0001620> "A laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample. Most often, clinicians are looking for genomic variants associated with hereditary disorders.")
+AnnotationAssertion(dce:creator <http://purl.obolibrary.org/obo/MAXO_0001620> <https://orcid.org/0000-0001-7941-2961>)
+AnnotationAssertion(dce:date <http://purl.obolibrary.org/obo/MAXO_0001620> "2024-07-25T15:42:55Z"^^xsd:dateTime)
+AnnotationAssertion(rdfs:label <http://purl.obolibrary.org/obo/MAXO_0001620> "cell-free DNA screening")
+SubClassOf(<http://purl.obolibrary.org/obo/MAXO_0001620> <http://purl.obolibrary.org/obo/MAXO_0000529>)
+
 # Class: <http://purl.obolibrary.org/obo/MAXO_0009003> (preimplantation genetic testing)
 
 AnnotationAssertion(Annotation(<http://www.geneontology.org/formats/oboInOwl#hasDbXref> "NCBIBook:NBK5191") <http://purl.obolibrary.org/obo/IAO_0000115> <http://purl.obolibrary.org/obo/MAXO_0009003> "Genetic testing of one or more cells removed from early embryos conceived by in vitro fertilization and transferring to the mother's uterus only those embryos determined not to have the pathogenic variant(s)/chromosome anomaly(ies) of concern.")