diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ab425997ab..166f0b7d10 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -71,6 +71,7 @@ property_value: IAO:0000700 MONDO:0000001 property_value: IAO:0000700 MONDO:0021125 property_value: IAO:0000700 MONDO:0021178 property_value: IAO:0000700 MONDO:0042489 +owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\n\n############################\n# Classes\n############################\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ))))\n\n\n) [Term] id: MONDO:0000001 @@ -559912,6 +559913,8 @@ id: MONDO:0970994 name: immunodeficiency 120 xref: OMIM:620836 {source="MONDO:equivalentTo"} is_a: MONDO:0021094 {source="OMIM:620836", source="https://orcid.org/0000-0002-4142-7153"} ! immunodeficiency disease +intersection_of: MONDO:0021094 ! immunodeficiency disease +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/9175 ! POLD1 [Term] id: MONDO:0970995 diff --git a/src/patterns/dosdp-patterns/disease_series_by_groupofgenes.yaml b/src/patterns/dosdp-patterns/disease_series_by_groupofgenes.yaml new file mode 100644 index 0000000000..490db31958 --- /dev/null +++ b/src/patterns/dosdp-patterns/disease_series_by_groupofgenes.yaml @@ -0,0 +1,62 @@ +pattern_name: disease_series_by_groupofgenes + +pattern_iri: http://purl.obolibrary.org/obo/mondo/patterns/disease_series_by_groupofgenes.yaml + +description: 'This pattern is for diseases that are caused by variation(s) in one of multiple genes, most often one gene belonging to a complex. For example: [non-severe combined immunodeficiency due to polymerase delta deficiency](http://purl.obolibrary.org/obo/MONDO_0800145)'. This pattern is shown for diseases where one of 2 (only) genes would be causal, but it is possible that more than 2 genes need to be included. +# this pattern does not allow for disease term in which the cause of the disease is a variation in multiple genes at the same time. + + +contributors: +- https://orcid.org/0000-0002-4142-7153 + +classes: + disease: MONDO:0700096 + gene: SO:0000704 + +relations: + has material basis in germline mutation in: RO:0004003 + +annotationProperties: + exact_synonym: oio:hasExactSynonym + related_synonym: oio:hasRelatedSynonym + +vars: + disease: '''disease''' + gene: '''gene''' + +#name: +# text: '%s caused by variation in %s' +# vars: +# - disease +# - gene + +#annotations: +#- annotationProperty: exact_synonym +# text: '%s %s' +# vars: +# - gene +# - disease +#- annotationProperty: exact_synonym +# text: '%s related %s' +# vars: +# - gene +# - disease +#- annotationProperty: exact_synonym +# text: '%s caused by mutation in %s' +# vars: +# - disease +# - gene + +def: + text: Any %s in which the cause of the disease is a variation in either of %s or %s genes. + vars: + - disease + - gene + - gene + +equivalentTo: + text: '%s and ''has material basis in germline mutation in'' some (%s or %s)' + vars: + - disease + - gene + - gene