monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Implement OMIM->common disease check #6250

Open nicolevasilevsky opened 1 year ago

nicolevasilevsky commented 1 year ago

OMIM includes some common diseases and MONDO's import of these entries needs to be reviewed.

From the curation call notes on 19 May 22: If OMIM has a locus for a common disease, it should be a disease susceptibility eg BrCa - disease susceptibility in AD fashion, this is a subtype of breast cancer

I think this can be partially addressed after we ask Ada about OMIM's approach to classifying rare diseases. If we tag all the OMIM hereditary diseases as rare, anything that is not a subclass of hereditary disease that is equiv to OMIM should be reviewed and potentially considered to be a common disease.

I think there may be disease susceptibilities misclassified as hereditary diseases and this is being addressed in this ticket (https://github.com/monarch-initiative/mondo/issues/4882). This is a big ticket though and not the highest priority.

nicolevasilevsky commented 1 year ago

From Ada: We really don't bother with rare disease definitions, because OMIM is about Mendelian Inheritance, not about rare. However, any Mendelian forms of "common" diseases (such as breast cancer, ID, etc), will be rare. The worldwide definition of rare disease is a disease with a prevalence of <1 in 2000. The US still uses <200,000 in the population.

nicolevasilevsky commented 1 year ago

Sabrina suggests we need to review susceptibilities Related ticket: https://github.com/monarch-initiative/mondo/issues/4882

nicolevasilevsky commented 1 year ago

As a next step, we should create a list of all the OMIM diseases that are outside of the rare disease subset. I will add this to my 1:1 with Nico to discuss further.