SPARQL query for list of rare diseases

[nicolevasilevsky]

@sabrinatoro when you have a chance, could you please do a query for the list of rare diseases in Mondo and share it with Gioconda? (See email)

Thanks!

[sabrinatoro]

A query already existed, I modified it such that there are 3 "new" queries to get rare diseases: 1 ) get ALL Mondo term for rare disease (count) 2) get ALL Mondo term for rare disease (list) 3) get only leaf concepts Mondo term for rare disease (count)

queries are based on the method used here: https://mondo.monarchinitiative.org/pages/analysis/

[sabrinatoro]

the list was created on November 30th, 2022. And it is : rarediseases_list_221130.txt