DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Consider adding 'autoinflammatory disease' as a grouping term & revising diseases accordingly #1400

Open allenbaron opened 1 week ago

allenbaron commented 1 week ago

'autoinflammatory disease' has been suggested as a grouping term in multiple prior issues and has not been addressed directly. There are a number of immune system diseases that might be re-classified under 'autoinflammatory disease'.

This issue has been opened to consolidate previous comments and to address the need for autoinflammatory disease as a term directly.

The most extensive look at this so far has been in https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1387#issuecomment-2391393420 but it was also briefly considered as part of https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1226#issuecomment-1656084090. In neither case, was a definitive decision made.

Other issues that identify autoinflammatory diseases but are only weakly relevant to this topic as a whole include:

allenbaron commented 1 week ago

We might also consider adding a parent for diseases that have both autoinflammatory and autoimmune components.

Sue noted in https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1387#issue-2546457121 about adding 'autoinflammation, antibody deficiency, and immune dysregulation syndrome':

The Orphanet parent is Mixed autoinflammatory and autoimmune syndrome