split/create new term MONDO:0100585 myopathy, centronuclear, 1#10319
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nicolevasilevsky wants to merge 5 commits into
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split/create new term MONDO:0100585 myopathy, centronuclear, 1#10319nicolevasilevsky wants to merge 5 commits into
nicolevasilevsky wants to merge 5 commits into
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nicolevasilevsky
commented
Jun 2, 2026
| subset: rare | ||
| synonym: "AD-CNM" EXACT ABBREVIATION [DOID:0111217, Orphanet:169189] | ||
| synonym: "autosomal dominant centronuclear myopathy" EXACT [DOID:0111217, Orphanet:169189] {OMO:0002001="https://w3id.org/information-resource-registry/clingen"} | ||
| synonym: "autosomal dominant centronuclear myopathy caused by mutation in MYF6" EXACT [MONDO:design_pattern] |
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I removed this as I don't think it is correct. should I deprecate it instead?
nicolevasilevsky
commented
Jun 2, 2026
| synonym: "CNM3" RELATED ABBREVIATION [] | ||
| synonym: "DNM2-related centronuclear myopathy" RELATED [GARD:0012719] | ||
| synonym: "myopathy, centronuclear, 1" EXACT [GARD:0012719, OMIM:160150] | ||
| synonym: "myopathy, centronuclear, 3" EXACT [] |
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I think this should be removed too, not sure where it came from and it doesn't make sense to have it here
nicolevasilevsky
commented
Jun 2, 2026
| synonym: "myopathy, centronuclear, 3" EXACT [] | ||
| synonym: "myopathy, centronuclear, autosomal dominant" EXACT [OMIM:160150] | ||
| synonym: "myopathy, centronuclear, type 1" EXACT [] | ||
| synonym: "myopathy, centronuclear, type 3" EXACT [] |
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same with this, I think this should be removed
nicolevasilevsky
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close #10318