Request for new synonym [RYR1-related myopathy] #8501
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Closes #8293 -add exact synonyms -fix typo in definition of MONDO:0009711
sabrinatoro
reviewed
Dec 19, 2024
| @@ -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?
Thank you for your help!
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Closes #8293
-add exact synonyms
-fix typo in definition of MONDO:0009711