search

monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
228 stars 53 forks source link

neurofibromatosis type 1 MONDO v MONARCH #3125

Closed lcdaugherty closed 3 years ago

lcdaugherty commented 3 years ago

http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1

http://purl.obolibrary.org/obo/MONDO_0008078 neurofibromatosis, familial spinal

https://monarchinitiative.org/disease/MONDO:0008078 neurofibromatosis, familial spinal MONDO:0008078 (Redirected from MONDO:0018975)

I don't understand why MONDO:0018975 is redirected to the the child term MONDO:0008078 in Monarch, what have they been merged? is this correct/what you would expect to see?

matentzn commented 3 years ago

Thank you @lcdaugherty

From a quick look it seems this is not a problem with Mondo, but with Monarch - I have asked the Monarch UI team (@monicacecilia, @kshefchek) to take a look.

lcdaugherty commented 3 years ago

Thank you @matentzn - I knew it wasn't a MONDO thing but was confident you could solve it by knowing the right people! :)

kshefchek commented 3 years ago

It looks like there are some incorrect equivalences in http://purl.obolibrary.org/obo/mondo/releases/2021-03-03/mondo.owl

http://purl.obolibrary.org/obo/DOID_0111253 is an exact match to MONDO:0018208, and MONDO:0008078, and MONDO:0018975

this has since been fixed so this should be fixed for the next monarch data load

lcdaugherty commented 3 years ago

@kshefchek great thank you!

nicolevasilevsky commented 3 years ago

thanks all, I will close this