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monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[NTR] Cleidocranial dysplasia and related disorders #6013

Open pnrobinson opened 1 year ago

pnrobinson commented 1 year ago

Preferred term label: Cleidocranial dysplasia and related disorders

Synonyms

Definition (free text, please give PubMed ID, if applicable, in format PMID:#######) Group 33 of the Nosology of genetic skeletal disorders: 2023 revision PMID: 36779427.

Parent term (use OLS, or your favorite ontology browser) Skeletal dysplaisa

In general, we need to add terms as shown in the PDF file here -- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.63132 If needed, we can get an excel file from the authors @matentzn could we script this if we had an excel file?

Children terms (if applicable) Should any existing terms that should be moved underneath this new proposed term?

Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here

nicolevasilevsky commented 1 year ago

@pnrobinson do you want the primary label to be 'Cleidocranial dysplasia and related disorders'? We usually would not add 'and related disorders'

pnrobinson commented 1 year ago

'Cleidocranial dysplasia and related disorders' is the label of the 2023 nosology, so it is good!

cmungall commented 1 year ago

probably easier to scrape from the html, e.g. with BeautifulSoup, https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.63132

pnrobinson commented 1 year ago

This is a good idea, and definitely the authors of beautiful soup deserve to be invited to a beer. Howe should we divide up the work moving forward?