Questions regarding MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type

[azankl]

I have a few questions and comments regarding MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type.

First, the related synonym Schmid metaphyseal dysostosis is likely wrong. There is a condition called Schmid metaphyseal chondrodysplasia MONDO_0007983 which this synonym might refer to (Schmid vs Schmidt). I have however never heard anybody use Schmid metaphyseal dysostosis as a synonym for Schmid metaphyseal chondrodysplasia MONDO_0007983, so would simply remove this synonym altogether.

My second question: MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type is a child of type 2 collagenopathy, which is correct (see PMID: 23653587), but where did you get this information from? It is not listed as a type 2 collagen disorder in OMIM or Orphanet.

Which leads to my third question: how does MONDO track provenance of information? Is there a way to assign a PMID to the statement that MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type is_a type 2 collagenopathy? I am planning on curating such information, but if I cannot store a PMID to track the provenance, then MONDO might not be suitable for my project. I found some info on provenance attribution here: https://www.w3.org/2001/12/attributions/ is any of this relevant to MONDO?

[kanems]

I see that OrphaNet has assigned COL2A1 as the causative gene in their "expert" entry (on Orpha's site) as well as on their ontology available on OLS (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93316 and http://www.orpha.net/ORDO/Orphanet_93316 )
however, the description on OrphaNet's page for etiology says: "Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified." But this may be a lag in the curation of the text vs. more recent publications: (Orphanet Last update: November 2009, vs. 2 citations below published in 2013 and 2021)
https://pubmed.ncbi.nlm.nih.gov/23653587/ and https://pubmed.ncbi.nlm.nih.gov/38162154/ both cite the Rybak et al (1991) paper that is a follow up on the Kozlowski et al 1988 paper (both on the OMIM entry)
I've added these citations to the MedGen record so they'll be linked from our entry for this Mondo ID in the next day or so and follow up with a request to OMIM to review these citations for their entry.