From 49a5eab29e9c6f63e202ea27216c1456cd8d06ba Mon Sep 17 00:00:00 2001 From: Yousif <153126037+yshwetar@users.noreply.github.com> Date: Tue, 2 Jul 2024 08:54:59 -0400 Subject: [PATCH] New term & updated related contents closes #7641 Addresses the following - New term 'developmental and epileptic encephalopathy, 31A' - Places both 31A and 31B under 31 - 31B excluded subclassof 'developmental and epileptic encephalopathy' - OMIM reference added for 31A - NORD rare subclass label added - Exact and broad synonyms added --- src/ontology/mondo-edit.obo | 14 +++++++++++++- 1 file changed, 13 insertions(+), 1 deletion(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ea858d8b76..e1ba24bcf5 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -553746,7 +553746,8 @@ xref: DOID:0070376 {source="MONDO:equivalentTo"} xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} xref: OMIM:620352 {source="MONDO:equivalentTo"} xref: UMLS:C5830459 {source="MEDGEN:1841095", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} -is_a: MONDO:0100062 {source="OMIM:620352"} ! developmental and epileptic encephalopathy +is_a: MONDO:0014598 ! developmental and epileptic encephalopathy, 31 +relationship: excluded_subClassOf MONDO:0100062 {source="https://orcid.org/0000-0002-0587-4693"} ! developmental and epileptic encephalopathy [Term] id: MONDO:0957249 @@ -574661,6 +574662,17 @@ is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", sou property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7379" xsd:anyURI +[Term] +id: MONDO:1040000 +name: developmental and epileptic encephalopathy 31A +subset: nord_rare {source="MONDO:NORD"} +synonym: "Developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [] +synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD [] +xref: OMIM:616346 {source="MONDO:equivalentTo"} +is_a: MONDO:0014598 ! developmental and epileptic encephalopathy, 31 +property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T12:16:11Z" xsd:dateTime +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 + [Term] id: MONDO:8000000 name: infectious discitis