Closed BaronKoy closed 3 years ago
Thank you @BaronKoy, I'll make sure these terms are all available in our next release.
Mondo has an equivalent OMIM mapping for mononeuropathy of the median nerve which I will import - http://purl.obolibrary.org/obo/MONDO_0013237
recessive lissencephaly has been added as EFO_0011063 recessive spherocytosis has been added as EFO_0011064
For central hypoventilation syndrome, late-onset, while it is not explicitly late onset, I could import http://purl.obolibrary.org/obo/MONDO_0008852? Please let me know if this would be suitable, otherwise could you provide a definition, any synonyms and potential parent term(s) and I will create a new term. Thanks!
I have also added the synonyms to pulmonary arterial hypertension.
@zoependlington Thank you! At the moment I can not seem to find additional information related to "central hypoventilation syndrome, late-onset," to be able to create a new term. I also do not think it can fall under http://purl.obolibrary.org/obo/MONDO_0008852 due to late onset occurrence. For now it can be left out of this iteration and we will discuss this further with the team as it should pop up during the next release.
Thanks @BaronKoy! I shall move this ticket to done, in that case!
Hi The new spreadsheet for EFO import has now be prepared:
https://docs.google.com/spreadsheets/d/1O8k37nKoLQZY9rvqUR46R8aBvuqfO36euNX7qEABNN4/edit#gid=1649591365
Some notes on a couple of things:
For the latter two:
We also wanted to ask if PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 could be added to pulmonary arterial hypertension (EFO current term) as a synonym?