Mirror Movements 1 and/or Agenesis of the Corpus Callosum

[ErinRiggs]

Mondo term (ID and Label): Mirror Movements 1 (MONDO:0008002)

Suggested new label: Mirror Movements 1 and/or Agenesis of the Corpus Callosum

Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here Requested by the ClinGen Brain Malformations GCEP (https://www.clinicalgenome.org/affiliation/40020/)

Optional: Any additional information (like supporting evidence, PubMed ID, etc.) Evidence demonstrates that individuals with heterozygous variants in DCC may have congenital mirror movements and/or agenesis of the corpus callosum (not with or without- some individuals do not demonstrate mirror movements and only have corpus callosum defects, even within the same family) (PMIDs: 28250454, 30666715, 31697046, 33209984).

[nicolevasilevsky]

Hi @ErinRiggs This request is similar to https://github.com/monarch-initiative/mondo/issues/4937 For a disease that is part of an OMIM phenotypic series, we want to use the OMIM names for consistency. 'mirror movements 1' is part of a OMIM phenotypic series that is named similarly.

Would it be okay if I added this as a synonym?

As noted on the other ticket, we are open to having a conversation with your developers to figure out ways to have the ClinGen preferred label show up, or another possible solution is having a particular release file for you that displays the labels that are preferred by ClinGen. Do you think those solutions could work? We are happy to meet on a call to discuss further as well. Thank you!

[ErinRiggs]

Yes, absolutely please leave that term as a synonym - we just wanted the top level term changed as there are some people that do not have mirror movements but do have the ACC.

I'd be happy to talk about the labels again on another call, but my main concern is I feel uncomfortable with ClinGen systems needing to keep track of when they are displaying the current top-level MONDO term vs. when they might need to display an alternate label (and how confusing this may be for users), but perhaps I have misunderstood!

[nicolevasilevsky]

discussed with ClinGen: we can add this as a new class/parent of Mirror Movements 1

[ErinRiggs]

Hi @nicolevasilevsky when can we expect to see this term available on MONDO OLS? Our curator is looking for it to finish her entry :)

cc: @bryannavanhoute

[nicolevasilevsky]

Hi @ErinRiggs - there seems to be a problem, this term was added to Mondo on Aug 25 but I don't see it in the released file. The ID is: MONDO:0100515

I'll look into this and let you know asap. I am currently traveling and attending conferences this week, so I may not have a chance to look into until next week, thanks for your patience.

[nicolevasilevsky]

@ErinRiggs I just ran the Mondo release and confirmed it is in the release file (https://github.com/monarch-initiative/mondo/releases/tag/v2022-10-03).

It should be in OLS within a few days.

[ErinRiggs]

Thank you Nicole!

Erin Rooney Riggs, MS, CGC Assistant Professor Autism & Developmental Medicine Institute Geisinger @.***

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From: Nicole Vasilevsky @.> Sent: Tuesday, September 27, 2022 12:50 PM To: monarch-initiative/mondo @.> Cc: Riggs, Erin @.>; Mention @.> Subject: [External] Re: [monarch-initiative/mondo] Mirror Movements 1 and/or Agenesis of the Corpus Callosum (Issue #5219)

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Hi @ErinRiggshttps://nam12.safelinks.protection.outlook.com/?url=https%3A%2F%2Fgithub.com%2FErinRiggs&data=05%7C01%7Ceriggs%40geisinger.edu%7C8766aad3dec249b9cff208daa0b0c679%7C37d46c567c664402a16055c2313b910d%7C0%7C0%7C637998978366687795%7CUnknown%7CTWFpbGZsb3d8eyJWIjoiMC4wLjAwMDAiLCJQIjoiV2luMzIiLCJBTiI6Ik1haWwiLCJXVCI6Mn0%3D%7C3000%7C%7C%7C&sdata=6%2F9nFur6eXl%2BAUekQlB0%2BNNcp0PFN3nm1ra2h7uw%2BV4%3D&reserved=0 - there seems to be a problem, this term was added to Mondo on Aug 25 but I don't see it in the released file. The ID is: MONDO:0100515

I'll look into this and let you know asap. I am currently traveling and attending conferences this week, so I may not have a chance to look into until next week, thanks for your patience.

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