From c1bf88054393e70ea12331dd6f7a55d5f81eff14 Mon Sep 17 00:00:00 2001 From: Yousif <153126037+yshwetar@users.noreply.github.com> Date: Tue, 12 Nov 2024 18:16:23 -0500 Subject: [PATCH] Added Nord rare + Github tracker (#8356) --- src/ontology/mondo-edit.obo | 2 ++ 1 file changed, 2 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 0e80d287ff..259adaefb9 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -556232,6 +556232,7 @@ id: MONDO:0957248 name: developmental and epileptic encephalopathy, 31B def: "Any developmental and epileptic encephalopathy in which the cause of the disease is a homozygous mutation in the DNM1 gene." [https://orcid.org/0000-0002-0587-4693, OMIM:620352] subset: gard_rare {source="MONDO:GARD"} +subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:620352] synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] @@ -556240,6 +556241,7 @@ 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="DOID:0070376", source="OMIM:620352"} ! developmental and epileptic encephalopathy +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:string [Term] id: MONDO:0957249