Closed carolina-f closed 9 months ago
@carolina-f The HPO avoids encoding pathophysiology, because if it did, then there would be a profusion of terms such as disease X-related HPOterm Y. Also, diabetes itself is a bundled term that is itself not an ideal HPO term. I would suggest that if we want to capture the phenotypes of CF related DM, then individual HPO terms e used (and potentially developed if needed).
Preferred term label: Cystic Fibrosis-related diabetes
Synonyms CF-related diabetes
Definition (free text, please give PubMed ID) CF-related diabetes has distinctive peculiarities that make it different from type 1 and type 2: it originates from reduced secretion of insulin, but is also partially due to insulin resistance, particularly during acute pulmonary exacerbations PMID: 27709245
Cystic Fibrosis-Related Diabetes Mellitus (CFRD) results from ongoing obstructive damage to the pancreas from thick secretions, which in turn results in fatty infiltration of the pancreas and islet cell destruction. (16) CFRD typically presents after the first decade, and occurs in up to 20% of adolescents and at least 50% of adults with CF. (57) CFRD is typically diagnosed in patients with pancreatic insufficiency and has been associated with increased morbidity and mortality through worse nutritional status and decreased lung function PMID: 33526571
Parent term (use hpo.jax.org/app)
Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Cystic fibrosis OMIM:219700
Your nano-attribution (ORCID)