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revise synonyms for 'developmental and epileptic encephalopathy, 31A'
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close #8019
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nicolevasilevsky committed Jan 20, 2025
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17 changes: 10 additions & 7 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -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"}
Expand All @@ -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
Expand Down Expand Up @@ -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"}
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