MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

[michellepaczosa]

Mondo term (ID and Label):
MONDO:0016542
immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Suggested new label:
inflammatory bowel disease OR IL10-related early-onset inflammatory bowel disease

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Optional: Any additional information (like supporting evidence, PubMed ID, etc.)
MONDO label does not currently accurately reflect disease found in patients or associated with related genes. Patients with IL10-related disease present with early onset IBD without the additional features currently listed in the MONDO label (PMID: 35481870).
In addition, components of the IL10 receptor (IL10Ra and IL10RB) are associated with inflammatory bowel disease 28 and inflammatory bowel disease 25, respectively, in MONDO. IL10 variants result in a similar disorder. Therefore, changing the MONDO label associated with IL10 to something like "inflammatory bowel disease" OR "IL-10 related early-onset inflammatory bowel disease" would be much more accurate than the current label.