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Update GNB1-related disorder
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Closes #8167
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yshwetar committed Nov 14, 2024
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3 changes: 2 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -343444,7 +343444,7 @@ synonym: "autosomal dominant non-syndromic intellectual disability 42" RELATED [
synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1" EXACT [MONDO:design_pattern]
synonym: "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" EXACT [MONDO:0024252]
synonym: "GNB1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern, MONDO:patterns/disease_series_by_gene]
synonym: "GNB1-related disorder" BROAD [https://rarediseases.org/rare-diseases/gnb1-related-disorder/]
synonym: "GNB1-related disorder" EXACT [https://rarediseases.org/rare-diseases/gnb1-related-disorder/]
synonym: "GNB1-related neurodevelopmental disorder" EXACT [https://clinicalgenome.org/affiliation/40006/]
synonym: "intellectual developmental disorder, autosomal dominant 42" EXACT [OMIM:616973, OMIM:genemap2]
synonym: "intellectual disability, autosomal dominant 42" EXACT CLINGEN_LABEL [OMIM:616973]
Expand Down Expand Up @@ -343475,6 +343475,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5588" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6600" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7597" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8167" xsd:string

[Term]
id: MONDO:0014856
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