to do:
find x-ref and source to support that this is a disease and not a phenotype

A curation has been completed for PMM2 and Hyperinsulinemic Hypoglycemia with Polycystic Kidney Disease. I am writing to inquire on the MONDO ID timeline. Please let us know if you have any questions regarding this curation.

@vgitau Thanks for the ticket! Do you have a paper that we can reference for this new term? We will aim to have this term available by the next release.

@vgitau these papers look like good references: https://pubmed.ncbi.nlm.nih.gov/28373276/ and https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9680396/?
Do you agree?

Thank you!

@nicolevasilevsky Yes, those are good references. Both articles are cited within the approved evidence summary. I have attached a copy of it here: PMM2_Evidence Summary (1).docx

@vgitau we are working to refine the definition to add more details. Do you find this definition acceptable:
"Any hyperinsulinemic hypoglycemia which is accompanied by cystic structures in the kidneys, and in which the cause of the disease is a variation in the PMM2 promoter."

With source references to: https://clinicalgenome.org/affiliation/40066/, PMID:28373276, PMID:36412659.

Please do suggest any changes needed for the definition.

@twhetzel This definition is acceptable! Thank you for working on it!

Thank you for reviewing @vgitau!