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monarch-initiative / monarch-phenote

stub for monarch phenote
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Add field for pathognomonicity #38

Open cmungall opened 8 years ago

cmungall commented 8 years ago

cc @drseb @DoctorBud @pnrobinson

drseb commented 8 years ago

@pnrobinson I couldn't remember what we decided upon, when we were at orphanet. is it a binary field?

pnrobinson commented 8 years ago

Hi gals/guys, I think that there is almost no sign anywhere that is really pathognomonic. I think Orphanet ants to have major and minor signs, though. We should talk with them about what they need -- it would be useful to have this kind of information!

cmungall commented 8 years ago

There is an interesting modeling question about whether to use ABox axioms, TBox axioms, or probabilistic axioms

With ABox axioms, you can say "this individual has this disease and phenotypes A, B, ..."

With TBox axioms, you can say "every individual with phenotype P has disease D" or "every individual with disease D has phenotype P". These are best managed in the ontology.

And with kboom we are exploring weighted candidate TBox axioms.

drseb commented 8 years ago

I feel that we should move to probabilistic modelling.

drseb commented 8 years ago

Please see latest data and associated documentation at http://www.orphadata.org/cgi-bin/inc/product4.inc.php