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merge adolescent/adult onset autosomal dominant epilepsy with auditor… (
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#8578)

* merge adolescent/adult onset autosomal dominant epilepsy with auditory features

close #8456

* exclude qc and remove narrow synonym

* add orcid

* revise syns
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@nicolevasilevsky
nicolevasilevsky authored Jan 16, 2025
1 parent 7fe7d71 commit 6217307
Showing 1 changed file with 10 additions and 16 deletions.
26 changes: 10 additions & 16 deletions src/ontology/mondo-edit.obo
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Original file line number Diff line number Diff line change
Expand Up @@ -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"}
Expand All @@ -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"}
Expand All @@ -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
Expand Down Expand Up @@ -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
Expand Down Expand Up @@ -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
Expand Down

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