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New term & updated related contents
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closes #7641

Addresses the following
- New term 'developmental and epileptic encephalopathy, 31A'
- Places both 31A and 31B under 31
- 31B excluded subclassof 'developmental and epileptic encephalopathy'
- OMIM reference added for 31A
- NORD rare subclass label added
- Exact and broad synonyms added
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yshwetar committed Jul 2, 2024
1 parent 6cf7578 commit 49a5eab
Showing 1 changed file with 13 additions and 1 deletion.
14 changes: 13 additions & 1 deletion src/ontology/mondo-edit.obo
Original file line number Diff line number Diff line change
Expand Up @@ -553746,7 +553746,8 @@ xref: DOID:0070376 {source="MONDO:equivalentTo"}
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="OMIM:620352"} ! developmental and epileptic encephalopathy
is_a: MONDO:0014598 ! developmental and epileptic encephalopathy, 31
relationship: excluded_subClassOf MONDO:0100062 {source="https://orcid.org/0000-0002-0587-4693"} ! developmental and epileptic encephalopathy

[Term]
id: MONDO:0957249
Expand Down Expand Up @@ -574661,6 +574662,17 @@ is_a: MONDO:0022800 {source="https://clinicalgenome.org/affiliation/40065/", sou
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-3458-4839
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7379" xsd:anyURI

[Term]
id: MONDO:1040000
name: developmental and epileptic encephalopathy 31A
subset: nord_rare {source="MONDO:NORD"}
synonym: "Developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT []
synonym: "DNM1-Encephalopathy and Neurodevelopmental Disorder" BROAD []
xref: OMIM:616346 {source="MONDO:equivalentTo"}
is_a: MONDO:0014598 ! developmental and epileptic encephalopathy, 31
property_value: http://purl.org/dc/elements/1.1/date "2024-07-02T12:16:11Z" xsd:dateTime
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0002-0587-4693

[Term]
id: MONDO:8000000
name: infectious discitis
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