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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Cystic Fibrosis-related diabetes #7946

Closed carolina-f closed 9 months ago

carolina-f commented 1 year ago

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)

pnrobinson commented 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).