difference of sexual differentiation

[pnrobinson]

Mondo term (ID and Label): difference of sexual differentiation

Suggested new label: disorder of sexual development (this is by far the most commonly used term for this class of diseases). @matentzn can we automatically infer class membership? for instance, 46,xx sex reversal is not a subclass. Should we be annotating this manually?

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[matentzn]

We can certainly hack the subclasses with sparql+regex. I will let @nicolevasilevsky guide me on this!

[nicolevasilevsky]

@sabrinatoro could we axiomatize these terms using monochrome (or something else?) so we get automatic inferences for these terms?

[sabrinatoro]

@nicolevasilevsky, I don't understand your question... Is the assumption that "disorder of sexual development" is always related to a chromosomal anomaly in X or Y chromosome? My thought (without having any expertise) is that it is not especially the case. especially since we now know that sexual development is more complex than just the X and Y chromosome. For instance, there might be a gene on a different chromosome that could be involved in sexual development. Also, are ALL the disorders affecting the X and Y chromosome "disorder of sexual development"?

Therefore :

1. I don't think we should axiomatized using monochrome or other genes/chromosomes
2. It might make more sense to axiomatize based on feature? but I don't know if all the Mondo terms would have that feature annotated in Mondo (this annotation could be in Mondo or somewhere else, eg monarch)

[pnrobinson]

Not all "disorder of sexual development"s are disorders affecting the X and Y chromosome. However, specific gene mutations manifest differently according to the chromosomal status. One often sees categorizations like this one https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/

[nicolevasilevsky]

talking to Peter. Action items:

• [x] '46,XX testicular disorder of sex development' should be a subclass of '46,XX disorder of sex development'
• [x] rename gynecomastia to 'gynecomastia disorder', syn 'isolated gynecomastia'