Skip to content

Commit

Permalink
add synonym to 'developmental and epileptic encephalopathy, 14' (#8475)
Browse files Browse the repository at this point in the history
* add synonym to 'developmental and epileptic encephalopathy, 14'

close #8412

* shorten URL
  • Loading branch information
nicolevasilevsky authored Dec 3, 2024
1 parent 45b08a7 commit ac9d962
Showing 1 changed file with 2 additions and 0 deletions.
2 changes: 2 additions & 0 deletions src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -321689,6 +321689,7 @@ synonym: "EIEE14" EXACT ABBREVIATION []
synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, OMIM:614959]
synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2]
synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "KCNT1-related epilepsy" BROAD [https://www.chop.edu/conditions-diseases/kcnt1-related-epilepsy, PMID:30234941]
xref: DOID:0080439 {source="MONDO:equivalentTo"}
xref: GARD:15886 {source="MONDO:GARD"}
xref: MEDGEN:767109 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
Expand All @@ -321700,6 +321701,7 @@ intersection_of: MONDO:0100062 ! developmental and epileptic encephalopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 ! KCNT1
relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/18865 {source="MONDO:mim2gene_medgen", source="OMIM:614959"} ! KCNT1
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/8412" xsd:anyURI

[Term]
id: MONDO:0013990
Expand Down

0 comments on commit ac9d962

Please sign in to comment.