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everycure-org / matrix-disease-list

The MATRIX disease list seeks to filter the set of all diseases and their categories to those that can be specifically targeted by a drug.
https://monarch-initiative.github.io/matrix-disease-list/
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ClinGen subset as potential inclusion/exclusion criteria #3

Closed mellybelly closed 1 month ago

mellybelly commented 1 month ago

I would expect all clingen subset diseases (i.e. those that have undergone lumping and splitting) are included in the list. Is this true? We may wish to include this subset flag in any case because these classes have undergone significant scrutiny as individual disease entities with different mechanisms, phenotypic features, and/or treatments.

matentzn commented 1 month ago

This is a good idea, will implement shortly.

https://search.clinicalgenome.org/kb/conditions/MONDO:0020119

matentzn commented 1 month ago

THis has been implemented, thanks for the issue, the heuristics does seem to work well!