monarch-initiative / monarch-disease-ontology-RETIRED

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EFO classifies Chronic Fatigue Syndrome as a mental/behavioral disorder #398

Closed cmungall closed 6 years ago

cmungall commented 6 years ago

http://www.ebi.ac.uk/ols/ontologies/efo/terms?iri=http%3A%2F%2Fwww.ebi.ac.uk%2Fefo%2FEFO_0004540

This is not in line with current thinking, I can provide refs if need be

siiraa commented 6 years ago

@cmungall syndrome is hard to classify. Will really appreciate any classification pointer. thank you :)

pnrobinson commented 6 years ago

I am coming to realize the chronic fatigue syndrome is an inaccurate nomeculature that also has consequences for patients and probably also has not helped to attract research. Maybe this is similar to the way that "suppuration of the blood" had to be renamed to Leukemia by Virchow before people started to do research. So I would suggest that we use the primary label myalgic encephalomeyelitis/Chronic fatigue syndrome -- this name is also inaccurate but it is more accepted in the community and better suggests that this is a serious disease that we do not yet understand. There is a table here that offers a quick overview http://iacfsme.org/portals/0/pdf/Primer_Post_2014_conference.pdf I do not think that ME/CFS should be primary classified as a neurological or behavioral disease, although it does have manifestations here. I think we need a category such as constitutional disease.

cmungall commented 6 years ago

@siiraa - my primary objection was the placement under 'mental or behavioral disorder'

image

I also think the 'muscular disease' is problematic

@pnrobinson

I have changed the name as you suggest.

I think we should describe the neurological and behavioral manifestations, but this can be done in annotations to HPO rather than hardwiring is-a in the ontology. I like the idea of constitutional disease. For now we have 'syndromic disease' as the sole parent class in mondo, which is not wrong but could be improved?

What would you make of immune system disease? It seems a lot of recent research is pointing in this direction? Or should we record hypotheses outside the ontology in annotations?

pnrobinson commented 6 years ago

In fact we will be doing research on ME/CFS at JAX and our hypothesis is that it is in part an immune mediated disorder. But I would say that there is not sufficient evidence to state this as a fact in a disease ontology, and I would prefer to be non-committal as to the etiology. It is also very likely that ME/CFS is quite heterogeneous etiologically, and thus probably it will be stratified in ways that are hard to predict today.

nicolevasilevsky commented 6 years ago

closing, I think this is resolved