From d0c53538d2e6fafebf17c6ed67bc0b4beabf7cc9 Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Sun, 19 Jan 2025 17:22:57 -0800 Subject: [PATCH 1/3] revise synonyms for 'developmental and epileptic encephalopathy, 31A' close #8019 --- src/ontology/mondo-edit.obo | 17 ++++++++++------- 1 file changed, 10 insertions(+), 7 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 3680ffd4d..5def46c10 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -337612,15 +337612,16 @@ subset: nord_rare {source="MONDO:NORD"} subset: rare synonym: "DEE31" BROAD ABBREVIATION [] synonym: "DEE31A" EXACT ABBREVIATION [DOID:0080437, OMIM:616346] -synonym: "developmental and epileptic encephalopathy 31" BROAD [] -synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163] +synonym: "developmental and epileptic encephalopathy 31" BROAD [https://orcid.org/0000-0001-5208-3432] +synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:616346] synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" EXACT [] +synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] -synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern] -synonym: "EIEE31" EXACT ABBREVIATION [MONDO:Lexical] -synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346] -synonym: "epileptic encephalopathy, early infantile, type 31" EXACT [MONDORULE:2] +synonym: "DNM1-related epilepsy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] +synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" BROAD [MONDO:design_pattern] +synonym: "EIEE31" BROAD ABBREVIATION [MONDO:Lexical] +synonym: "epileptic encephalopathy, early infantile, 31" BROAD [MONDO:Lexical, OMIM:616346] +synonym: "epileptic encephalopathy, early infantile, type 31" BROAD [MONDORULE:2] xref: DOID:0080437 {source="MONDO:equivalentTo"} xref: GARD:16094 {source="MONDO:GARD"} xref: MEDGEN:894942 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} @@ -337633,6 +337634,7 @@ is_a: MONDO:0100062 {source="DC-OMIM:616346", source="MONDO:Redundant", source=" relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/2972 {source="MONDO:mim2gene_medgen", source="OMIM:616346"} ! DNM1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7641" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8019" xsd:anyURI [Term] id: MONDO:0014599 @@ -558450,6 +558452,7 @@ 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: rare +synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [OMIM:620352] synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163] synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] xref: DOID:0070376 {source="MONDO:equivalentTo"} From 717437178fe5a4dcbbea92cb5735a1d9c1f2652b Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Wed, 22 Jan 2025 10:01:28 -0800 Subject: [PATCH 2/3] revise syns on DEE31A and DEE31B --- src/ontology/mondo-edit.obo | 6 ++---- 1 file changed, 2 insertions(+), 4 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 5def46c10..b6a2c3d5b 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -337615,8 +337615,7 @@ synonym: "DEE31A" EXACT ABBREVIATION [DOID:0080437, OMIM:616346] synonym: "developmental and epileptic encephalopathy 31" BROAD [https://orcid.org/0000-0001-5208-3432] synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:616346] synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene] -synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD [https://orcid.org/0000-0001-5208-3432] -synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] +synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-9310-0163] synonym: "DNM1-related epilepsy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163] synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" BROAD [MONDO:design_pattern] synonym: "EIEE31" BROAD ABBREVIATION [MONDO:Lexical] @@ -558452,8 +558451,7 @@ 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: rare -synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [OMIM:620352] -synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163] +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] xref: DOID:0070376 {source="MONDO:equivalentTo"} xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"} From eb0420b3ed25816e0db1c1e5b6e876d39863befe Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Thu, 23 Jan 2025 08:32:19 -0800 Subject: [PATCH 3/3] add synonym to 'developmental and epileptic encephalopathy, 31B' --- src/ontology/mondo-edit.obo | 1 + 1 file changed, 1 insertion(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index b6a2c3d5b..fd1aecaf4 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -558451,6 +558451,7 @@ 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: rare +synonym: "DEE31B" EXACT [OMIM:620352] 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] xref: DOID:0070376 {source="MONDO:equivalentTo"}