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Request for new synonym [RYR1-related myopathy] #8501

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Request for new synonym [RYR1-related myopathy] #8501

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6 changes: 5 additions & 1 deletion src/ontology/mondo-edit.obo
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Expand Up @@ -210861,7 +210861,7 @@ relationship: excluded_subClassOf MONDO:0019952 {source="DC-OMIM:255300", source
[Term]
id: MONDO:0009711
name: congenital fiber-type disproportion myopathy
def: "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." [NCIT:C120046]
def: "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." [NCIT:C120046]
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@katiermullen does this require a mutation in ALL of these genes? or in one of them or in one or more of them?

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@sabrinatoro I just came across this discrepancy between the mondo definition and the NCI definition where the Mondo definition came from when I was researching this issue. Although the source definition uses "and" upon further research, I think "or" is correct based on this reference PMID:31578728, which I can include as a db-xref in the definition.

One question though - are the SC axioms ok since they are not always true?
Screenshot 2024-12-20 at 1 58 18 PM

Thank you for your help!

subset: gard_rare {source="GARD:6161", source="MONDO:GARD"}
subset: nord_rare {source="MONDO:NORD"}
subset: ordo_disorder {source="Orphanet:2020"}
Expand Down Expand Up @@ -210898,6 +210898,7 @@ relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI
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/6035" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8293" xsd:anyURI

[Term]
id: MONDO:0009712
Expand Down Expand Up @@ -537291,13 +537292,16 @@ subset: clingen {source="MONDO:CLINGEN"}
subset: gard_rare {source="MONDO:GARD"}
subset: otar {source="MONDO:OTAR"}
subset: rare
synonym: "RYR1-related disease" EXACT [https://rarediseases.org/rare-diseases/ryr-1-related-diseases/]
synonym: "RYR1-related disorder" EXACT [https://rarediseases.org/rare-diseases/ryr-1-related-diseases/]
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synonym: "RYR1-related myopathy" EXACT CLINGEN_LABEL []
is_a: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: MONDO:0019952 {source="https://clinicalgenome.org/affiliation/40031/"} ! congenital myopathy
intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/10483 {source="https://clinicalgenome.org/affiliation/40031/"} ! RYR1
relationship: curated_content_resource https://search.clinicalgenome.org/kb/conditions/MONDO:0100150 {source="MONDO:CLINGEN"}
property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/5658" xsd:anyURI
property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8293" xsd:anyURI

[Term]
id: MONDO:0100151
Expand Down
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