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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[Obsolete] MONDO:0035370 ALPI-related inflammatory bowel disease #3543

Closed nicolevasilevsky closed 2 years ago

nicolevasilevsky commented 3 years ago

Mondo term (ID and Label) MONDO:0035370 ALPI-related inflammatory bowel disease

Reason for deprecation https://github.com/monarch-initiative/mondo/pull/3534#discussion_r692537326

It's unclear if this is a Mendelian disease (it is not in OMIM) or if it is susceptibility towards IBD.

There is this paper describing this variant in 2 patients: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5887907/

Suggested term to consider http://purl.obolibrary.org/obo/MONDO_0005265 'inflammatory bowel disease'

@ahamosh is this term under consideration for addition to OMIM or is there not enough evidence to call this a proper disease? Do you think we should consider classifying this as an 'inherited disease susceptibility?

similar to #3540

nicolevasilevsky commented 3 years ago

pinging @ahamosh

nicolevasilevsky commented 2 years ago

to do: send PMID to Ada and she'll forward on

nicolevasilevsky commented 2 years ago

Emailed Ada on 02/03/22

nicolevasilevsky commented 2 years ago

@ahamosh pinging you :)

nicolevasilevsky commented 2 years ago

emailed Ada on 06/29

nicolevasilevsky commented 2 years ago

This ticket has been open for over a year with no activity. I think we can just leave it in Mondo for now and revisit later if needed.