@galyea123 thank you for this request! Could you kindly supply a source for the exact synonyms 'RYR1-related diseases', 'RYR1-related disorders'?

Thank you!

I think this is the same as

id: MONDO:0007294
name: central core myopathy

I think we should relabel this so it's clearer it's a gene-specific form of a series, consistent with https://omim.org/entry/117000

we can add RYR1-related myopathy as an exact synonym

I thought that @galyea123 is asking for the synonyms, 'RYR1-related diseases', 'RYR1-related disorders' for the parent term of 'central core myopathy', namely 'RYR1-related myopathy' MONDO:0100150?

Can definitely relabel 'central core myopathy' consistent with OMIM.

Note: The definition of MONDO:0009711 'congenital fiber-type disproportion myopathy' should be updated (the "or" should be an "and" according to NCIT:C120046)

oh I didn't read the request properly, sorry about that! agree with yr analysis!

Hi! This is correct. I am requesting to add the synonyms of the parent term of the disorders related to RYR1 gene "RYR1-related myopathy" MONDO:0100150. In addition to the synonyms mentioned in my message, I think it will be good to also add the Orphanet term: "Neurological muscular channelopathy due to a genetic ryanodine receptor defect" as per https://rarediseases.org/rare-diseases/ryr-1-related-diseases/
Please see also our NORD report: https://rarediseases.org/rare-diseases/ryr-1-related-diseases/ "“RYR1-related diseases” is an umbrella term which covers a range of RYR1-related subtypes that affect the neuromuscular system in humans"
For references see: https://pmc.ncbi.nlm.nih.gov/articles/PMC6277304/ https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-022-01357-0
https://ryr1.org/related-diseases-for-professionals

Thank you! Gioconda Alyea

@galyea123

The synonyms: RYR1-related disease, RYR1-related disorder have been added.

"Neurological muscular channelopathy due to a genetic ryanodine receptor defect" already exists in Mondo. It is MONDO:0957115. If you think that this term should be merged with MONDO:0100150 "RYR1-related myopathy", please let me know and I will create a new issue for this.

Thank you!

Hi! I believe that these terms should be merged. Thank you, Gioconda