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Mondo Disease Ontology
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collagen 6-related myopathy #6720

Closed galyea123 closed 11 months ago

galyea123 commented 1 year ago

I am suggesting to change the term name:

Current term in MONDO: collagen 6-related myopathy MONDO:0100225

New label: Collagen VI-Related Dystrophies (as per GeneReviews myopathy is not really the feature but a muscular dystrophy) - Also notice the conditions included in the classification are still listed in Orphanet as separate conditions - I also sent a message to Orphanet.

https://www.ncbi.nlm.nih.gov/books/NBK1503/

nicolevasilevsky commented 1 year ago

@galyea123, thanks for the ticket. As I believe you know, we are focused on a mass obsoletion effort this month, and will look at this (and your other open tickets) more closely in November or later. We appreciate your patience.

galyea123 commented 1 year ago

[like] Gioconda Alyea reacted to your message:

From: Nicole Vasilevsky @.> Sent: Friday, October 13, 2023 3:24:18 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] collagen 6-related myopathy (Issue #6720)

@galyea123https://github.com/galyea123, thanks for the ticket. As I believe you know, we are focused on a mass obsoletionhttps://github.com/monarch-initiative/mondo/issues?q=is%3Aissue+is%3Aopen+label%3A%22mass+obsoletion%22 effort this month, and will look at this (and your other open ticketshttps://github.com/monarch-initiative/mondo/issues/created_by/galyea123) more closely in November or later. We appreciate your patience.

— Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/mondo/issues/6720#issuecomment-1761700335, or unsubscribehttps://github.com/notifications/unsubscribe-auth/A4QAWD56J7KP5ZWS5DP2H2DX7FMKFAVCNFSM6AAAAAA5K7OSAGVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMYTONRRG4YDAMZTGU. You are receiving this because you were mentioned.Message ID: @.***>

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nicolevasilevsky commented 12 months ago

@galyea123 this term was requested by @RedRiver1816 and the ClinGen Congenital Myopathies expert panel, let me ask them about this revision.

@RedRiver1816, could you please comment if the term you requested is the same as the term above? Or perhaps should we add a separate term that is labeled Collagen VI-Related Dystrophy?

Thanks!

Related to: https://github.com/monarch-initiative/mondo/issues/2214

RedRiver1816 commented 12 months ago

Hi @nicolevasilevsky, Thanks for the ping! Unfortunately I'm no longer a member of the Congenital Myopathies GCEP. In my opinion the reasoning above is relatively sound to use the term "dystrophies" as opposed to "myopathy", however it also might be prudent to contact a current member of the GCEP (https://clinicalgenome.org/affiliation/40031/). Hopefully one of them is still active on here and can chime in!

nicolevasilevsky commented 12 months ago

@justyneross, could you please comment on this if you have a moment?

Mohan-Shruthi commented 11 months ago

@nicolevasilevsky The ClinGen Limb-girdle muscular dystrophy (now Muscular Dystrophies and Myopathies) GCEP would prefer the term "myopathy" for the Collagen-6-related disorders. We collaborated with the Congenital Myopathies GCEP on these curations, and both panels prefer it to be "myopathy".

galyea123 commented 11 months ago

Hi! The reason why GR is using the term "dystrophy" is related to the histologic changes that are found in the muscle biopsy and the progressive nature of the individual conditions included in the Collagen-6 related disorders.

Please see:

https://www.ncbi.nlm.nih.gov/books/NBK1503/ https://pubmed.ncbi.nlm.nih.gov/18351526/ https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy Thank you, Gioconda

From: Mohan-Shruthi @.> Sent: Friday, December 8, 2023 3:19 PM To: monarch-initiative/mondo @.> Cc: Gioconda Alyea @.>; Mention @.> Subject: Re: [monarch-initiative/mondo] collagen 6-related myopathy (Issue #6720)

@nicolevasilevskyhttps://github.com/nicolevasilevsky The ClinGen Limb-girdle muscular dystrophy (now Muscular Dystrophies and Myopathieshttps://clinicalgenome.org/affiliation/40151/) GCEP would prefer the term "myopathy" for the Collagen-6-related disorders. We collaborated with the Congenital Myopathies GCEP on these curations, and both panels prefer it to be "myopathy".

- Reply to this email directly, view it on GitHubhttps://github.com/monarch-initiative/mondo/issues/6720#issuecomment-1847792762, or unsubscribehttps://github.com/notifications/unsubscribe-auth/A4QAWD5KPS6OAS6RPZM6HELYINY3JAVCNFSM6AAAAAA5K7OSAGVHI2DSMVQWIX3LMV43OSLTON2WKQ3PNVWWK3TUHMYTQNBXG44TENZWGI. You are receiving this because you were mentioned.Message ID: @.**@.>>

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nicolevasilevsky commented 11 months ago

@galyea123 I added this as a synonym. Thank you!