update synonyms and def for MONDO:0020066 'Ehlers-Danlos syndrome'

monarch-initiative / mondo

Mondo Disease Ontology

http://obofoundry.org/ontology/mondo

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update synonyms and def for MONDO:0020066 'Ehlers-Danlos syndrome' #93

Closed nicolevasilevsky closed 4 years ago

nicolevasilevsky commented 6 years ago

per @pnrobinson https://monarchinitiative.org/disease/MONDO:0020066#overview

AKA: Cutis hyperelastica, elastic skin => I do not think these are good AKAs!!

def: An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility. This is also not a great definition.

cmungall commented 6 years ago

Bad Synonyms: report source [here DOID, which seems to have gotten them via SNOMED], report proposed action: (e.g. [a] demote EXACT->RELATED; [b] add a DEPRECATED axiom [c] retire the axiom).

In this case I think c is best. Here we change the AP from synonym to excluded_synonym

Def: Also report source [here NCIT]. Let's create a better one and propagate it back to NCIT and ORDO [which currently lacks a def]

nicolevasilevsky commented 6 years ago

made syn 'Cutis hyperelastica, elastic skin' for MONDO:0020066 'Ehlers-Danlos syndrome' an excluded synonym (in PR #105)
I emailed orphanet (via their online contact form)
I suggested the new def on the NCIT tracker

nicolevasilevsky commented 6 years ago

I think this addresses everything.

@cmungall when you say 'Also report source [here NCIT]' - is there something else I should do, or is suggesting the new def to NCIT what you meant?

cmungall commented 6 years ago

Yes, you can see we have an axiom annotation on the def indicating it came from NCIT. If we think the NCIT def can be improved on then we can communicate this back to them so everyone wins