search

monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
223 stars 51 forks source link

is myosclerosis a myopathy? #2361

Open nicolevasilevsky opened 3 years ago

nicolevasilevsky commented 3 years ago

Currently MONDO_0009714 myosclerosis is a subclass of MONDO_0100225 'collagen 6-related myopathy' - is this the best parent?

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

nicolevasilevsky commented 2 years ago

@pnrobinson when you have a chance, could you look at this ticket? Thanks!

pnrobinson commented 2 years ago

AFAIK this disease (https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289380) is a poorly characterized myopathy of unknown etiology. From the description in Orphaned, the expression of COL6 is reduced but this does not make it into a collagen 6 myopathy in the way that the remaining subclasses of the latter are. However, the COL6A2 gene (same as OMIM) is listed there. In addition to that, OMIM reports a single family with collagen 6-related Mendelian AR myosclerosis (https://omim.org/entry/255600). I am not sure whether the Orphaned and OMIM entries both refer to exactly the same thing, but it seems not crazy to merge the entries and primarily refer to the genetic etiology. If at a later time, more knowledge becomes apparent about non-Mendelian forms of the disease, we can add additional entries. It would be good to summarize this in the Mondo definition. @ahamosh thoughts?

nicolevasilevsky commented 2 years ago

Thanks @pnrobinson!

@ahamosh the question for you is if ORPHA:289380 Myosclerosis is equivalent to OMIM:255600 MYOSCLEROSIS, AUTOSOMAL RECESSIVE?

If you agree, my action item is to merge MONDO:0009714 myosclerosis and MONDO:0100225 'collagen 6-related myopathy'

nicolevasilevsky commented 5 months ago

OMIM states there is one family with this disease and are unsure if this is an actual disease. Whereas the ORDO class seems to be more assertive that this is a disease. OMIM has a question mark b/c it is only one family, Orphanet does not provide enough evidence that this is a legitimate disease.

Ada noted that there were functional studied that were done but it is still questionable. Nothing has been reported since, which is skeptical.

@pnrobinson recommends proceeding with merging.

@ahamosh the ORDO term may be broader. Unsure if these should be merged.

cmungall commented 5 months ago

Agree these should be merged

nicolevasilevsky commented 5 months ago

@sabrinatoro could you please add this to the list: merge MONDO:0009714 myosclerosis and MONDO:0100225 'collagen 6-related myopathy'