@@ -337415,10 +337415,11 @@ subset: rare
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synonym: "CMS18" EXACT ABBREVIATION [DOID:0110683, MONDO:Lexical, OMIM:616330]
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synonym: "congenital myasthenic syndrome caused by mutation in SNAP25" EXACT [MONDO:design_pattern]
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synonym: "congenital myasthenic syndrome type 18" EXACT [MONDORULE:2]
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- synonym: "myasthenic syndrome, congenital, 18" RELATED [MONDO:Lexical]
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- synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" RELATED [ ]
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+ synonym: "myasthenic syndrome, congenital, 18" EXACT [MONDO:Lexical]
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+ synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" EXACT [OMIM:616330 ]
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synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2]
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synonym: "SNAP25 congenital myasthenic syndrome" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
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+ synonym: "SNAP25-DEE" EXACT [https://orcid.org/0000-0001-9310-0163]
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xref: DOID:0110683 {source="MONDO:equivalentTo"}
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xref: GARD:16091 {source="MONDO:GARD"}
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xref: MEDGEN:906793 {source="MONDO:equivalentTo", source="MONDO:MEDGEN"}
@@ -337432,6 +337433,7 @@ intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.o
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relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital
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relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/11132 {source="MONDO:mim2gene_medgen"} ! SNAP25
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property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
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+ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8200" xsd:anyURI
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[Term]
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id: MONDO:0014591
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