From 48d6a2cdbd0706273bb9e8dc7ac23827aaa1665e Mon Sep 17 00:00:00 2001 From: Yousif <153126037+yshwetar@users.noreply.github.com> Date: Tue, 2 Jul 2024 10:19:12 -0400 Subject: [PATCH] New term request - Sharpin-related autoimmune disorder closes #7706 - Definition - PMID for definition - Submitted user ORCID - Exact synonym --- src/ontology/mondo-edit.obo | 21 +++++++++++++++++++++ 1 file changed, 21 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ea858d8b76..b7213938fb 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -574661,6 +574661,27 @@ 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 +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 "2024-07-02T13:45:16Z" xsd:dateTime +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 + +[Term] +id: MONDO:1040001 +name: Sharpin-related autoinflammatory syndrome +def: "An auntoinflammatory disease in which the cause of the disease is a mutation in the Sharpin gene." [] {source="PMID:38609546"} +synonym: "sharpenia" EXACT [] +xref: https://orcid.org/0000-0002-0146-1162 +is_a: MONDO:0019751 ! autoinflammatory syndrome +property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T14:04:49Z" xsd:dateTime +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693 + [Term] id: MONDO:8000000 name: infectious discitis