search

monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
Creative Commons Attribution 4.0 International
235 stars 53 forks source link

Align 5 missing decipher CNV syndromes #6310

Open matentzn opened 1 year ago

matentzn commented 1 year ago

The following 5 Decipher CNV syndromes (https://www.deciphergenomics.org/disorders/syndromes/list) are not in Mondo:

Potential Mondo ID Decipher name Decipher ID
MONDO:0010763 ??? [DECIPHER: AZFa] spermatogenetic failure, Y-linked 1 DECIPHER:23
? [DECIPHER: AZFb] DECIPHER:25
MONDO:0010767 ??? [DECIPHER: AZFb+AZFc] spermatogenetic failure, Y-linked 2 DECIPHER:26
? [DECIPHER: AZFc] DECIPHER:24
? [DECIPHER: Early-onset Alzheimer Disease with cerebral amyloid angiopathy] DECIPHER:48

Should these be added? Or excluded? Maybe consult with @pnrobinson on this, as they are also not in HPOA.

pnrobinson commented 1 year ago

There may be a mistake here -- AZFb above is linked to the AZFa deletion page in DECIPHER. I think these are valid MONDO entries though and we will also add them to HPOAs (I made an issue)

matentzn commented 1 year ago

Thanks @pnrobinson, copy paste error, fixed the mistakes!

nicolevasilevsky commented 1 year ago

@pnrobinson What should the label of the missing diseases be? male infertility due to AZFb deletion? and male infertility due to AZFc deletion?

nicolevasilevsky commented 1 year ago

@pnrobinson please review what we have in Mondo and determine if these should be added as xrefs