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revise synonyms for 'developmental and epileptic encephalopathy, 31A' #8605

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Jan 23, 2025
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revise synonyms for 'developmental and epileptic encephalopathy, 31A' #8605

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d0c5353
revise synonyms for 'developmental and epileptic encephalopathy, 31A'
nicolevasilevsky Jan 20, 2025
7174371
revise syns on DEE31A and DEE31B
nicolevasilevsky Jan 22, 2025
eb0420b
add synonym to 'developmental and epileptic encephalopathy, 31B'
nicolevasilevsky Jan 23, 2025
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20 changes: 11 additions & 9 deletions src/ontology/mondo-edit.obo
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Expand Up @@ -337612,15 +337612,15 @@ 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/0000-0001-9310-0163]
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-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-5208-3432, https://orcid.org/0000-0001-9310-0163]
synonym: "DNM1-related epilepsy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
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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 +337633,7 @@ 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
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8019" xsd:anyURI

[Term]
id: MONDO:0014599
Expand Down Expand Up @@ -558450,7 +558451,8 @@ 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 [https://orcid.org/0000-0001-9310-0163]
synonym: "DEE31B" EXACT [OMIM:620352]
synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [https://orcid.org/0000-0001-9310-0163, OMIM:620352]
synonym: "DNM1-encephalopathy and neurodevelopmental disorder" BROAD [https://orcid.org/0000-0001-9310-0163]
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Perhaps combine these above two lines?

Also this syn was not requested in the ticket, but I did find that OMIM lists the syn DEE31B.

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@nicolevasilevsky what do you think about adding the exact syn DEE31B to this term for completeness? Source is OMIM:620352.

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great idea, will do

xref: DOID:0070376 {source="MONDO:equivalentTo"}
xref: MEDGEN:1841095 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
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