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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR] SCN4-related myopathy, autosomal recessive #1453

Closed brookepalus closed 4 years ago

brookepalus commented 4 years ago

Preferred term label: SCN4A-related myopathy, autosomal recessive

Synonyms

Definition (free text, please give PubMed ID, if applicable, in format PMID:#######)

Parent term (use OLS, or your favorite ontology browser) Congenital Myopathy, MONDO:0019952

Your nano-attribution (ORCID) @nicolevasilevsky this is a submission from the ClinGen LGMD GCEP! Thank you.

nicolevasilevsky commented 4 years ago

Hi @brookepalus could you please give me a bit more information? Is there a paper (PubMed ID) that I can reference, and can you suggest a text definition to describe this term?

Thanks!

brookepalus commented 4 years ago

Hi Nicole, I apologize for the lack of information. I am putting in this request on the behalf of one of our biocurators, so please let me know how else I can clarify the request beyond what I have included below.

I also made an error in the original request, and the new MonDO term should be: SCN4A-related myopathy, autosomal recessive (where originally I left off the A). Please let me know if you can alter the original request or if I should put in a new request.

Here is a description of the term: SCN4A related myopathy is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy that are related to pathogenic variants in SCN4A gene.

There are no PMIDs that specifically refer to this term. The decision to lump the above mentioned congenital myopathies was made by the ClinGen LGMD Gene Curation Expert Panel, who determined that these conditions represent a phenotypic spectrum and not separate disease entities and thus should be lumped under an umbrella term. The PMIDs that were considered in this decision include: PMID 30824560; PMID 28003497; PMID 26700687; PMID 28003497; PMID 28262468; and PMID 28003497.

Please let me know what other information I can provide to help clarify.

Many Thanks! Brooke

nicolevasilevsky commented 4 years ago

Thanks Brooke, this is great!

brookepalus commented 4 years ago

Hi Nicole, I just wanted to check in regarding this MonDo ID request. Do you have an estimated time line for approval?

Many thanks, Brooke

nicolevasilevsky commented 4 years ago

This should be available in the next release at the end of this month/early next month. Thanks for your patience.

The new Mondo ID is: MONDO:0100121

nicolevasilevsky commented 4 years ago

@brookepalus sorry for the delay, this should be available in the release at the end of July

brookepalus commented 4 years ago

Hi @nicolevasilevsky, it appears that this Mondo ID is still not live. Does it appear to be live on your end or do you have any updates you can share?

Many thanks, Brooke

nicolevasilevsky commented 4 years ago

Hi @brookepalus apologies for the delay, the release has been slightly delayed and should be ready by the end of next week.