search

monarch-initiative / mondo

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

updated definition for "adult Fanconi syndrome" #7789

Closed sabrinatoro closed 3 months ago

sabrinatoro commented 3 months ago

Closes #7323

sabrinatoro commented 3 months ago

@twhetzel When the definition from NCIT:C4377 is misleading, it still refers to the concept of "adult Fanconi Syndrome". Therefore I kept it as an x-ref.

While the comment from the other user is interesting, it is not relevant to this issue: the concept's definition is that "adult fanconi syndrome is a fanconi syndrome that occurs in adult". It is most often acquired, but can sometimes be hereditary. The omim record (if it is confirmed to be for adult, which I haven't investigated) would be for "hereditary".