EVA-EFO import 05/26

[BaronKoy]

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:

• 4 terms to IMPORT (thrombophilia due to thrombin defect, Hypoplasia of the iris, Myokymia, fucosyltransferase 6 deficiency). We have ensured at least 1 cross reference for each and added any parent terms/definitions/synonyms where we could
• 4 terms to curate as NEW (lissencephaly, recessive, mononeuropathy of the median nerve, spherocytosis, recessive, central hypoventilation syndrome, late-onset). These have also been highlighted in yellow.

For the latter two:

• spherocytosis, recessive - It seems like this term should also be added to EFO under Hereditary spherocytosis (http://www.orpha.net/ORDO/Orphanet_822). Specially since the Hereditary spherocytosis is most commonly inherited in an autosomal dominant manner. There are articles supporting this mode of inheritance (e.g. https://doi.org/10.1016/j.tracli.2010.05.006)
• central hypoventilation syndrome, late-onset - I would suggest creating a new term for this one: Although I can't find a good medgen term either, only some publications: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215446/

We also wanted to ask if PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 could be added to pulmonary arterial hypertension (EFO current term) as a synonym?

[zoependlington]

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.

[BaronKoy]

@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.

[zoependlington]

Thanks @BaronKoy! I shall move this ticket to done, in that case!