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[NTR] New lung terms - from Mattias and Christina

Open nicolevasilevsky opened this issue 1 year ago • 6 comments

Peter and I met with pulmonary experts Mattias and Christina. We'll add new lung terms from this spreadsheet.

Related to #3026

cc @pnrobinson

nicolevasilevsky avatar Aug 10 '22 16:08 nicolevasilevsky

@pnrobinson is pulmonary hypoplasia the same as MONDO:0020419 'pulmonary artery hypoplasia'?

nicolevasilevsky avatar Aug 10 '22 18:08 nicolevasilevsky

pulmonary hypoplasia means undergrowth of the lung, so it is different!

pnrobinson avatar Aug 10 '22 18:08 pnrobinson

Thanks @pnrobinson!

nicolevasilevsky avatar Aug 10 '22 20:08 nicolevasilevsky

From Christina: Immunodeficiency, autosomal recessive, due to ZNFX1 deficiency: same as in OMIM 619644; citation: PMID: 33872655. I will add this as a synonym to MONDO:0030491

nicolevasilevsky avatar Aug 16 '22 15:08 nicolevasilevsky

From Christina: immunodeficiency, due to IKZF3 deficiency: Has also an OMIM ID: 619437; citation: PMID: 34155405. i added this a synonym of MONDO:0030333 'immunodeficiency 84'

nicolevasilevsky avatar Aug 16 '22 15:08 nicolevasilevsky

talked to Ada on 09/21/22- I will send PMIDs to her for any terms that are not in OMIM and they will consider adding them and then we can map them in Mondo

nicolevasilevsky avatar Sep 21 '22 22:09 nicolevasilevsky

this is done, will be available in the November release

nicolevasilevsky avatar Oct 03 '22 23:10 nicolevasilevsky