From 621730720b172066540f64683272e57017d03b0d Mon Sep 17 00:00:00 2001 From: Nicole Vasilevsky Date: Thu, 16 Jan 2025 11:05:19 -0800 Subject: [PATCH] =?UTF-8?q?merge=20adolescent/adult=20onset=20autosomal=20?= =?UTF-8?q?dominant=20epilepsy=20with=20auditor=E2=80=A6=20(#8578)?= MIME-Version: 1.0 Content-Type: text/plain; charset=UTF-8 Content-Transfer-Encoding: 8bit * merge adolescent/adult onset autosomal dominant epilepsy with auditory features close #8456 * exclude qc and remove narrow synonym * add orcid * revise syns --- src/ontology/mondo-edit.obo | 26 ++++++++++---------------- 1 file changed, 10 insertions(+), 16 deletions(-) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index c597f5365..5712eadfb 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -244541,7 +244541,6 @@ is_a: MONDO:0005090 {source="DC-OMIM:600511", source="DOID:0070079"} ! schizophr id: MONDO:0010898 name: autosomal dominant epilepsy with auditory features def: "A rare, genetic, familial partial epilepsy disease characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution." [Orphanet:101046] -comment: Editor note: split out generic type subset: clingen {source="MONDO:CLINGEN"} subset: gard_rare {source="GARD:2257", source="MONDO:GARD"} subset: nord_rare {source="MONDO:NORD"} @@ -244551,12 +244550,13 @@ subset: otar {source="MONDO:OTAR"} subset: rare synonym: "ADEAF" EXACT ABBREVIATION [Orphanet:101046] synonym: "ADLTE" EXACT ABBREVIATION [Orphanet:101046] +synonym: "adolescent/adult onset autosomal dominant epilepsy with auditory features" EXACT DEPRECATED [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html] synonym: "ADPEAF" EXACT ABBREVIATION [Orphanet:101046] synonym: "Autosomal dominant epilepsy with auditory features" EXACT CLINGEN_LABEL [icd11.foundation:832717248, Orphanet:101046] synonym: "autosomal dominant epilepsy with auditory features" EXACT [icd11.foundation:832717248, Orphanet:101046] synonym: "autosomal dominant lateral temporal lobe epilepsy" EXACT [Orphanet:101046] synonym: "autosomal dominant partial epilepsy with auditory features" RELATED [GARD:0002257] -synonym: "epilepsy, familial temporal lobe 1" NARROW [] +synonym: "autosomal dominant partial/lateral temporal epilepsy with auditory features" EXACT DEPRECATED [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html] synonym: "partial epilepsy with auditory aura" EXACT [Orphanet:101046] synonym: "partial epilepsy with auditory features" EXACT [Orphanet:101046] xref: GARD:2257 {source="MONDO:GARD"} @@ -244568,10 +244568,14 @@ xref: Orphanet:101046 {source="MONDO:equivalentTo", source="OMIM:600512", source xref: UMLS:C1838062 {source="MONDO:equivalentTo", source="MEDGEN:325326", source="MONDO:MEDGEN"} is_a: MONDO:0005027 {source="DOID:0060748/inferred", source="MESH:C537297/inferred", source="MONDO:Redundant", source="NCIT:C141441", source="OMIM:600512/inferred"} ! epilepsy is_a: MONDO:0017704 {source="Orphanet:101046"} ! familial partial epilepsy +is_a: MONDO:0800496 {source="https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html"} ! epilepsy with auditory features relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0010898 {source="MONDO:CLINGEN"} +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql relationship: excluded_subClassOf MONDO:0005115 {source="DC-OMIM:600512", source="DOID:0060748", source="OMIM:600512", source="https://orcid.org/0000-0001-5208-3432"} ! temporal lobe epilepsy +relationship: excluded_subClassOf MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1134" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/2614" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8456" xsd:anyURI [Term] id: MONDO:0010899 @@ -535370,21 +535374,11 @@ property_value: IAO:0006012 "2024-09-01" xsd:string [Term] id: MONDO:0100031 -name: adolescent/adult onset autosomal dominant epilepsy with auditory features -def: "A genetic focal epilepsy, with focal sensory auditory seizures seen in family members. Seizures often comprise such mild symptoms that they are undiagnosed. There are no implications expected for development or learning and seizures are typically infrequent and well controlled." [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html] -comment: Reason of obsoletion: duplicate. This will be merged with MONDO:0010898 autosomal dominant epilepsy with auditory features -subset: gard_rare {source="MONDO:GARD"} -subset: obsoletion_candidate -subset: rare -synonym: "autosomal dominant partial/lateral temporal epilepsy with auditory features" EXACT [https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html] -is_a: MONDO:0010898 {source="https://github.com/monarch-initiative/mondo/issues/1764"} ! autosomal dominant epilepsy with auditory features -is_a: MONDO:0100030 {source="https://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome -property_value: http://purl.org/dc/elements/1.1/date "2018-06-23T01:47:18Z" xsd:dateTime -property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 +name: obsolete adolescent/adult onset autosomal dominant epilepsy with auditory features property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5957" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8456" xsd:anyURI -property_value: IAO:0006012 "2025-02-01" xsd:string -property_value: seeAlso "https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html" xsd:anyURI +is_obsolete: true +replaced_by: MONDO:0010898 [Term] id: MONDO:0100032 @@ -545806,7 +545800,7 @@ xref: NCIT:C141441 {source="MONDO:equivalentTo"} xref: OMIM:600512 {source="MONDO:equivalentTo"} xref: UMLS:C4551957 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1643229"} is_a: MONDO:0005115 {source="OMIM:600512"} ! temporal lobe epilepsy -is_a: MONDO:0010898 {source="Orphanet:101046"} ! autosomal dominant epilepsy with auditory features +relationship: excluded_subClassOf MONDO:0010898 {source="Orphanet:101046", source="https://orcid.org/0000-0001-5208-3432"} ! autosomal dominant epilepsy with auditory features relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6572 {source="OMIM:600512"} ! LGI1 property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-4142-7153 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/1134" xsd:anyURI