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reasoning issues when importing uberon and doid #1370

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tgbugs opened this issue Sep 29, 2017 · 1 comment
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reasoning issues when importing uberon and doid #1370

tgbugs opened this issue Sep 29, 2017 · 1 comment

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@tgbugs
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tgbugs commented Sep 29, 2017

I am cross referencing this issue with the doid issue tracker.

Importing uberon and doid into a single ontology and running elk results in a large number of reasoning errors. At first I though the primary cause was that we have an additional axiom in NIFSTD DOID:4 rdfs:subClassOf BFO:0000016 . but further investigation suggests that there are some fundamental conflicts in modelling. Most of these issues arise in uberon_imports.owl from doid.

The doid-uberon conflicts mostly seem to revolve around conflicts between multicellular and acellular structure caused by the following triple 'acellular anatomical structure' owl:disjointWith 'multicellular anatomical structure'. See for example 'amnion'.

Another issues is with disjointness between anatomical space and anatomical line (e.g. 'gingival groove').

There is another issue that appears when ro.owl is also imported and the DOID:4 triple show above is included, which is that 'located in' (RO:0001025) is used to relate various system diseases with their respective systems which are then 'part of' (BFO:0000050) some entity, triggering ro's sub property chain on 'contained in' (RO:0001018) which causes reasoning errors due to the disjointness between 'material entity' and 'independent continuant'. I don' think that this is an uberon issue, since 'immune system' being 'part of' some 'organism' is more than reasonable, while the choice to use 'located in' to associate diseases with their system seems less reasonable. Am I incorrect to think that 'disposition' is a reasonable subClassOf for 'disease' (a quick look at the literature suggests disposition is the preferred positioning for diseases under BFO)? I think that there are a number of more appropriate existing object properties (e.g. 'disposition of') that could be used that are closer to the 'manifests in' (or similar) relationship doid needs here.

@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xml: <http://www.w3.org/XML/1998/namespace> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<http://example.org/uberon_doid_ro_error.ttl> a owl:Ontology ;
    owl:imports <http://purl.obolibrary.org/obo/uberon/releases/2017-09-09/uberon.owl>,
        <http://purl.obolibrary.org/obo/doid/releases/2017-07-14/doid.owl>,
        <http://purl.obolibrary.org/obo/doid/imports/uberon_import.owl>,
        <http://purl.obolibrary.org/obo/ro/releases/2017-09-22/ro.owl> .
tgbugs added a commit to SciCrunch/NIF-Ontology that referenced this issue Oct 2, 2017
This commit was created by running
`qnamefix {*,{bridge,unused}/*}.ttl` and
`qnamefix -x obo unused/sequence_slim.ttl` at
pyontutils commit 5dccd476e3e7f6817a44494f7f774c45761650bb.

This refactor upgrades all internal NIFSTD modelling to use BFO2.
It also introduces a number of reasoner errors due to incompatibilities
between imported ontologies (e.g. obophenotype/uberon#1370)
Upgrading to newer versions of imports resolves some, but not all of the
issues. These upgrades are on the roadmap.

The AnnotationProperty refactor will come, but it requires significantly
more curation to resolve issues with the multitude of properties used
and it will be more efficient to do so after we deprecate some of the
existing branches of the ontology that now have good community support.
tgbugs added a commit to SciCrunch/NIF-Ontology that referenced this issue Oct 16, 2017
uri switch, backend refactor, and 3.0

This pull request includes 3 major changes for the 3.0 release of NIFSTD.

    All NIFSTD native identifiers have been switched to use the uri.neuinfo.org resolver. This closes #59.
    Major reworking of the import chain (see #115 for reference), including importing most external ontologies from their canonical iris.
    All backend ObjectProperties have been switched to use BFO2/RO/IAO. This closes #39.

The current state of the ontology produces reasoning errors because of obophenotype/uberon#1370. These will persist until that issue is resolved or I complete our load time patching infrastructure.

The old backend is not completely gone since we still import an old version of pr that uses the old BFO1.1 backend. The new pr is huge and switching requires further review/planning since it cannot be dropped directly into the ontology as is and thus did not make the cut for updating the 3.0 release. ero.owl was removed from the import chain pending a review of its classes.

This pull request also starts the process of moving documentation into the repository from the GitHub wiki to reduce dependence on external systems.

Note that this pull request also moves the scigraph/ folder and associated loading and curie mapping (which defines the qnames used by the ontology) to pyontutils/scigraph.
@cmungall
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I don't think there is an uberon action item here.

Note that the merged disease ontology http://obofoundry.org/ontology/mondo.html has axioms that are consistent with RO and other ontologies

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