monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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some eponymous labels that need review of capitalization. #7403

Closed maglott closed 5 months ago

maglott commented 6 months ago

Mondo term (ID Label)

MONDO:0022577 | Billet bear syndrome. Does this even exist in current diagnoses? I could not find anything but https://checkorphan.org/disease/billet-bear-syndrome/

MONDO:0022639 | Cantu sanchez-corona Garcia-Cruz syndrome

MONDO:0022739 | Christian demyer franken syndrome

MONDO:0022798 | Cohen lockood wyborney syndrome

MONDO:0022862 | Cormier rustin munnich syndrome

MONDO:0023068 | Engelhard yatziv syndrome

Bug/Typo/Error description

Your nano-attribution (ORCID)

nicolevasilevsky commented 5 months ago

@ericsid are you aware if Billet bear syndrome is still considered a valid disease entity? https://rarediseases.info.nih.gov/diseases/892/billet-bear-syndrome

thanks!

ericsid commented 5 months ago

Cannot find any publication evidence confirming this concept after initial identification from a case report in 1988.

Do not see an issue with deprecating it as obsolete.