Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Add "disease or disorder" to COB #226

Draft
wants to merge 3 commits into
base: master
Choose a base branch
from
Draft
Changes from all commits
Commits
File filter

Filter by extension

Filter by extension

Conversations
Failed to load comments.
Loading
Jump to
Jump to file
Failed to load files.
Loading
Diff view
Diff view
73 changes: 72 additions & 1 deletion src/ontology/cob-edit.owl
Original file line number Diff line number Diff line change
Expand Up @@ -9,7 +9,8 @@
xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
xmlns:skos="http://www.w3.org/2004/02/skos/core#"
xmlns:terms="http://purl.org/dc/terms/">
xmlns:terms="http://purl.org/dc/terms/"
xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#">
<owl:Ontology rdf:about="http://purl.obolibrary.org/obo/cob/cob-edit.owl">
<owl:imports rdf:resource="http://purl.obolibrary.org/obo/cob/cob-annotations.owl"/>
<dc:description xml:lang="en">COB brings together key terms from a wide range of OBO projects to improve interoperability.</dc:description>
Expand Down Expand Up @@ -50,6 +51,18 @@



<!-- http://purl.obolibrary.org/obo/IAO_0000119 -->

<owl:AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000119"/>



<!-- http://purl.org/dc/elements/1.1/creator -->

<owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/creator"/>



<!-- http://purl.org/dc/elements/1.1/description -->

<owl:AnnotationProperty rdf:about="http://purl.org/dc/elements/1.1/description"/>
Expand All @@ -68,6 +81,12 @@



<!-- http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym -->

<owl:AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasRelatedSynonym"/>



<!-- http://www.w3.org/2004/02/skos/core#exactMatch -->

<owl:AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
Expand Down Expand Up @@ -1347,6 +1366,58 @@
<obo:IAO_0000115>A process during which an organism comes into contact with another entity.</obo:IAO_0000115>
<rdfs:label xml:lang="en">exposure of organism</rdfs:label>
</owl:Class>



<!-- http://purl.obolibrary.org/obo/COB_0001100 -->

<owl:Class rdf:about="http://purl.obolibrary.org/obo/COB_0001100">
<owl:equivalentClass>
<owl:Class>
<owl:unionOf rdf:parseType="Collection">
<rdf:Description rdf:about="http://purl.obolibrary.org/obo/COB_0001101"/>
<rdf:Description rdf:about="http://purl.obolibrary.org/obo/COB_0001102"/>
</owl:unionOf>
</owl:Class>
</owl:equivalentClass>
<rdfs:comment>This class groups the two defined classes &quot;disease&quot; and &quot;disorder&quot;. It supports use cases that conflate the two classes for pragmatic reasons.</rdfs:comment>
Copy link
Contributor Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Note, there is no useful way to define this class in a human readable way. But there is a very clear logical definition, which should satisfy any need for further definition.

<rdfs:label xml:lang="en">disease or disorder</rdfs:label>
<rdfs:seeAlso rdf:resource="https://github.com/OBOFoundry/COB/pull/226"/>
<rdfs:seeAlso>https://github.com/OBOFoundry/COB/issues/19</rdfs:seeAlso>
</owl:Class>



<!-- http://purl.obolibrary.org/obo/COB_0001101 -->

<owl:Class rdf:about="http://purl.obolibrary.org/obo/COB_0001101">
<obo:IAO_0000115>A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.</obo:IAO_0000115>
Copy link
Contributor Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@wdduncan suggests to make this a subclass of disposition in BFO. See related comment: https://github.com/OBOFoundry/COB/pull/226/files#r1090641271

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

Hello Nico,
Looks like we have a resolution.
Three new terms in COB:
disease COB_0001101
disorder COB_0001102
disease or disorder COB_0001100. - which is a union of COB_0001101 and COB_0001102

One request, for the source of the disease definition, that it be the Disease Ontology, as we originally defined the term 'disease' which OGMS then adopted.
rdf:resource="http://purl.obolibrary.org/obo/doid.owl"/>

Cheers,
Lynn

Copy link

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

In OGMS, which is aligned with BFO, disease is defined as "A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism." This definition comes from PMID:21347182, "Toward an Ontological Treatment of Disease and Diagnosis," 2009, by Scheuermann, Ceusters, and Smith. This is original source of this definition (not DO).

Copy link
Member

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@matentzn My suggestion was to make it a subclass of COB:disposition, which (at present) has a BFO IRI.

Copy link
Member

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@matentzn see my comment here.

<dc:creator rdf:resource="https://orcid.org/0000-0002-7356-1779"/>
<oboInOwl:hasRelatedSynonym>disorder</oboInOwl:hasRelatedSynonym>
<rdfs:label xml:lang="en">disease</rdfs:label>
</owl:Class>
<owl:Axiom>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/COB_0001101"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget>A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.</owl:annotatedTarget>
<obo:IAO_0000119 rdf:resource="http://purl.obolibrary.org/obo/ogms.owl"/>
</owl:Axiom>



<!-- http://purl.obolibrary.org/obo/COB_0001102 -->

<owl:Class rdf:about="http://purl.obolibrary.org/obo/COB_0001102">
<obo:IAO_0000115>A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease.</obo:IAO_0000115>
Copy link
Contributor Author

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

@wdduncan suggests to make this a subclass of material entity in BFO. Are you saying this @wdduncan because of the verbatim definitions here, or because you honestly believe that disorders are "material entities"? I thought this is exactly the problem with disease - that these terms have many aspects and therefore we should not just make them subclass of a specific BFO thing. Even @lschriml was contemplating they should be modelled as processes. I think we pretty much agreed that we wont agree on a BFO alignment for disease?

Copy link

@addiehl addiehl Jan 30, 2023

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

In OGMS, which is aligned with BFO, disease is defined as "A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism." This definition comes from PMID:21347182, "Toward an Ontological Treatment of Disease and Diagnosis," 2009, by Scheuermann, Ceusters, and Smith. This is original source of this definition (not DO). This would be good reading for MONDO folks and other who are interested in the source of this debate.

Copy link
Contributor

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

We have obviously read this

Copy link

Choose a reason for hiding this comment

The reason will be displayed to describe this comment to others. Learn more.

(I know you have)

<dc:creator rdf:resource="https://orcid.org/0000-0002-7356-1779"/>
<rdfs:label xml:lang="en">disorder</rdfs:label>
</owl:Class>
<owl:Axiom>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/COB_0001102"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget>A material entity which is clinically abnormal and part of an extended organism. Disorders are the physical basis of disease.</owl:annotatedTarget>
<obo:IAO_0000119 rdf:resource="http://purl.obolibrary.org/obo/ogms.owl"/>
</owl:Axiom>
</rdf:RDF>


Expand Down