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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Textual and logical definitions in ontologies</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Selja Seppa¨la¨</string-name>
          <email>seljamar@buffalo.edu</email>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Yonatan Schreiber</string-name>
          <email>yonatan.schreiber@cubrc.org</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Alan Ruttenberg</string-name>
          <email>alanruttenberg@gmail.com</email>
          <xref ref-type="aff" rid="aff2">2</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>CUBRC</institution>
          ,
          <addr-line>4455 Genesee St., Buffalo, NY, 14225</addr-line>
          ,
          <country country="US">USA</country>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Department of Philosophy, University at Buffalo</institution>
          ,
          <addr-line>Buffalo, NY, 14260</addr-line>
          ,
          <country country="US">USA</country>
        </aff>
        <aff id="aff2">
          <label>2</label>
          <institution>School of Dental Medicine, University at Buffalo</institution>
          ,
          <addr-line>Buffalo, NY, 14215</addr-line>
          ,
          <country country="US">USA</country>
        </aff>
      </contrib-group>
      <abstract>
        <p>-We discuss the structure and functions of definitions and axioms in ontologies from the perspective of a terminologist and logician respectively. By working through a few examples of the correspondence between parts of the textual definitions and the axioms, we show how to compare and contrast each and how each perspective reveals areas for improvement. Having established a correspondence between the textual and logical parts of ontology term definitions, we discuss the possibility of developing tools that help developers improve their ontologies. Such tools could be used to check both the textual definitions against the asserted axioms and vice versa. In addition, we propose a few other ways of checking the contents of textual definitions.</p>
      </abstract>
      <kwd-group>
        <kwd>textual definitions</kwd>
        <kwd>natural language definitions</kwd>
        <kwd>logical definitions</kwd>
        <kwd>OWL axioms</kwd>
        <kwd>checking definition contents</kwd>
        <kwd>problems in definitions</kwd>
        <kwd>functions of definitions in ontologies</kwd>
        <kwd>recommendations for definitions in ontologies</kwd>
        <kwd>ontologies</kwd>
        <kwd>terminology</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>I. INTRODUCTION</title>
      <p>Ontologies have on the one hand axioms that form parts of
the logical definition of terms, and on the other hand natural
language definitions and other documentation of those terms.</p>
      <p>However, the ontological world does not seem to have a
theory of what the functions of textual as opposed to logical
definitions are. The result of that is authoring practices that
vary widely. There are nevertheless correspondences (to a
certain extent) between phrases in the textual parts and the
logical parts. We can use an expectation of correspondences
between the textual and logical parts to build tools that help
developers improve their ontologies and provide guidelines for
identifying issues in axioms and definitions. Aspects we can
exploit are:
• Leverage logic to help establish correspondences between
the textual definition and the axioms.
• Leverage principles of organizing terminological entities
(definitions, notes,. . . ) to characterize the logical parts.
• Measure some part of the quality of an ontology in terms
of these correspondences.</p>
      <p>Thus, it may be feasible to bring automated methods used
in the terminological world to bear on both establishing the
correspondences and identifying quality issues in the textual
part that could be mapped to quality issues in the logical form.</p>
      <p>In this communication, we show examples of varying
definition practices in ontologies to support our first thesis
and describe issues in definition practices. We discuss the
structure and functions of definitions and logical parts from
the perspective of a terminologist and a logician respectively.
By working through a few examples of the correspondence
between parts of the textual definitions and logical parts,
we show how to compare and contrast each and how each
perspective reveals areas for improvement.</p>
      <p>We suggest that it is possible to write tools that analyze
textual definitions with the goal of offering places for
improvement. We discuss how such tools could be leveraged
to check the contents of both textual and logical definitions
for terms in ontologies. Our recommendations could also
contribute to supplementing the specifications of the OBO
Foundry principles on textual definitions.1</p>
    </sec>
    <sec id="sec-2">
      <title>II. TEXTUAL DEFINITIONS</title>
      <p>
        In an ontology, a textual definition is, ideally, a short
sentence found as the object of an annotation property designated
for that purpose. This kind of natural language definition is also
found in specialized terminological dictionaries. The account
we give in the present communication is thus based on the
more developed account of terminological definitions in [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ],
[
        <xref ref-type="bibr" rid="ref2">2</xref>
        ].
      </p>
      <p>A good definition conveys the intended meaning of an
ontology term — we will come back to this later — by
describing the type of thing to which the term refers. For
example, the Cell Type Ontology (CL) contains the following
definition for the term leukocyte:
(a) An achromatic cell of the myeloid or lymphoid lineages
capable of ameboid movement, found in blood or other
tissue.</p>
      <p>This example shows that the term leukocyte refers to
those things that are of the type achromatic cell and that are
distinguished from other achromatic cells in virtue of being:
of the myeloid or lymphoid lineages; capable of ameboid
movement; found in blood or other tissue.</p>
      <p>As we can see, a definition normally states the type of
thing to which the instances of the defined term belong, and
distinguishes these instances from the type and from other
things falling under the same type by listing one or more of
the characteristics of the instances of the term.</p>
      <p>The first part, the head of the definition is called the
genus; a distinguishing part, differentia. Thus, a definition has
a structure where each part is related to the defined term’s
instances by some type of relation:
1http://obofoundry.org/wiki/index.php/FP 006 textual definitions
• In the classical Aristotelian form, the genus (implicitly)
expresses an is a relation, as in example (a) above, which
we read as: a leukocyte is an achromatic cell.
• The differentia may express any kind of relation relevant
for describing and distinguishing the kinds of things to
which the defined term refers. In example (a) above,
the relations expressed in the definition of leukocyte are
respectively develops from (of the myeloid or lymphoid
lineages), capable of (capable of ameboid movement),
and located in (found in blood or other tissue).</p>
      <p>A textual definition also has a logical form that derives
from the relationship between its intension (that which is said
about the referent) and its extension (the set of instances that
fall under the intension). We can distinguish three main logical
forms:2
Classical definition A definition where the intension holds
for all instances of the type that is defined, as in Every
instance of X is a Y and all instances of X Z. . . . In
this case, the characteristics expressed by Y and Z are
necessary and, in the ideal case, they are jointly sufficient
for including all instances of X and distinguishing them
from other instances of Y. The ideal case corresponds
to the Aristotelian definition by necessary and sufficient
conditions. A standard example of classical definition is
that of triangle: A rectilinear figure that has three sides.
(All triangles are rectilinear and have three sides.)
Typical or prototypical definition A definition where the
intension holds for most of the instances of the type that
is defined, as in Every instance of X is a Y and most
instances of X Z. . . . An example of prototypical definition
for a swan would be An aquatic bird with a long neck,
usually having white plumage. (Most swans are white.)
Instance definition A definition where the intension holds
for only a single instance, as in X is the only Y that
Z. . . . These correspond to proper definite descriptions.
This kind of definition would apply, for example, to
ontologies that include what may be considered as proper
names, such as the Large Hadron Collider (LHC) in an
ontology of nuclear physics. In this case, the relevant
kind of differentiae would probably inform us about the
geographical location of the LHC and specify that it is
(or was until some point in time) “the world’s largest and
most powerful particle accelerator.”3 The definition could
be even more specific and tell us about the length of the
ring and the number of magnets that compose it.</p>
      <p>Normally, ontologies contain classical definitions because
their function is to disambiguate terms. This is not to say that
the other forms cannot appear in the textual definitions, but
this would not be ideal with respect to the function they are
meant to fulfill in this context; without necessary and sufficient
conditions it becomes possible to interpret terms in a manner
that deviates from their intended use.</p>
      <p>Indeed, the main function of textual definitions in
ontologies is to specify the intended meaning of the ontology terms
in order to avoid ambiguities and errors when, for example,
2X, traditionally called the definiendum, stands for the defined term’s
referent; Y for the genus; Z for a differentia; Y and Z together for the definition
itself, traditionally called the definiens.</p>
      <p>3http://home.web.cern.ch/topics/large-hadron-collider
annotating biomedical research texts or importing terms into
other ontologies. Of course, this is also the function of the
axioms, as we will see in the next section. However, the latter
can be somewhat obscure to non-ontologists who may need
more detailed and explicit information about the term and its
referent.</p>
      <p>
        Therefore, there is a cognitive advantage in including
textual definitions in ontologies. As argued in [1, section 1.3],
dictionary-type definitions are meant to adjust users’ lexical
competence [
        <xref ref-type="bibr" rid="ref3">3</xref>
        ] by modifying (or confirming) their knowledge
about the use of terms. In ontologies, definitions allow users
to make their use of a term converge toward that of the rest of
the users of the ontology. Both the genus and the differentia
contribute to the cognitive adjustment: the genus is meant to
provide a sort of cognitive anchor by stating a term that should
be familiar to the user of the definition; the differentiae are
meant to tell the user how the defined thing differs from the
thing that is expected to be already known.
      </p>
      <p>III.</p>
    </sec>
    <sec id="sec-3">
      <title>AXIOMS IN ONTOLOGIES</title>
      <p>Axioms in ontologies restrict the intended meaning of a
term by asserting necessary conditions for its use. They thus
function in a manner analogous to the necessary conditions
previously discussed under Classical definition in section II.
In OWL, it is rarely possible to provide sufficient conditions,
so axioms do not on their own constitute full definitions.
We distinguish three primary functions of ontology axioms:
disambiguation, taxonomic schematization, and fact-modeling.</p>
      <p>The function of axioms in the disambiguation of terms
is analogous to the function that textual definitions play in
disambiguation. Every axiom represents a necessary condition
for entities in the terms extension. Axioms thus help to
determine the extension of a term by restricting it to those
entities meeting the asserted condition. Each additional axiom
restricts the extension further, though it is usually not possible
to restrict the term to only its intended extension by providing
conditions that are jointly sufficient. The most common type
of axiom asserts an is a relation that relates the defined term
to a parent class by means of the subClassOf relation. For the
most part, the relatum of such an axiom should correspond
directly to the genus in the textual definition.</p>
      <p>We call the second function we identify ‘taxonomic
schematization’. When employed in this capacity, an axiom
asserted for a class provides a schema or template for the axioms
of any subclasses. This provides, in our view, robust, principled
taxonomic relations between parent, child, and sibling classes.
A class’s axioms are inherited by all of its subclasses. This
makes it possible to use axioms to suggest differentiae for its
child classes, in other words to use these axioms as templates
for the axioms of the subclasses. This can be done by asserting
a relational axiom for the parent class relating it to some other
kind of entity (e.g. by writing an axiom for a class X asserting
that any X is ‘part of some Y’). For every subclass of this
related kind, a subclass of the parent can then be distinguished.
For example, the axioms specifying the term infection in the
Infectious Disease Ontology (IDO) can be used to generate the
subclass axioms of its child terms, such as amebiasis (see the
axiom under SubClass Of (Anonymous Ancestor) in Figure 1;
see also the discussion of this example in section IV-C below).</p>
      <p>Lastly, we distinguish a fact-modeling function of axioms.
An ontology can be considered a specification of a controlled
vocabulary for expressing facts in a given domain. Such a
vocabulary is much sparser than the vocabulary that would be
used to express these facts in natural language, that is, there is a
one-many correspondence between ontology terms and words
in domain-relevant portions of natural language. This means
that the syntax for expressing facts (i.e., assertions between
instances) using ontology terms necessarily diverges from the
syntax used for expressing the same facts in natural language.
The RDF-schema regularizes this syntax substantially, but it is
still generally the case that RDF syntax plus the list of terms
in the ontology underdetermine how any given fact should
be translated from natural language into an expression using
the ontologys controlled vocabulary. An important function of
axioms in ontologies is to provide a schematic suggestion of
how this should be done. Thus, axioms complement textual
definitions in contributing cognitively towards regularizing
users’ employment of terms. For example, the axiom ‘is about
some document’ in one of the axioms specifying the term
abstract in the Information Artifact Ontology (IAO) tells us
that the relation expressed by the verb to summarize in natural
language is expressed at the logical level by the is about
relation that is part of the controlled vocabulary of the ontology
(see annotations in blue in Figure 2).</p>
      <p>IV.</p>
    </sec>
    <sec id="sec-4">
      <title>CORRESPONDENCES BETWEEN TEXTUAL AND</title>
      <p>LOGICAL DEFINITIONS</p>
      <p>As we have seen, axioms and textual definitions have
overlapping and complementary functions. Hereafter, we
examine how they contribute to conveying the intended meaning
of terms. We compare and discuss some examples in the
biomedical domain to show how these different forms relate.
The examples will show what kinds of issues or inconsistencies
can be identified by these comparisons; they reveal at least five
types of correspondences. We also give some recommendations
as to how to improve both the textual definitions and the related
axioms. For sake of readability, we will illustrate the cases with
screenshots of the ontology editor Prote´ge´.</p>
      <sec id="sec-4-1">
        <title>A. General recommendation</title>
        <p>Based on the identified functions for textual definitions
and axioms, we make the following general recommendation:
textual definitions should contain content analogous to what
is expressed in the axioms, i.e., descriptive content that
motivates the logical axioms. The expressions used in natural
language may however be more idiomatic than the ontology
vocabulary (e.g., the expression inheres in is not very natural).
Any complementary information that is deemed useful for
understanding the intended meaning of the term but which
cannot be included in the axioms should be systematically
asserted using other annotation properties.</p>
      </sec>
      <sec id="sec-4-2">
        <title>B. Exact correspondence</title>
        <p>Figure 3 shows that the parts of the textual definition
of dead-end host in IDO correspond exactly to the logical
definition by necessary and sufficient conditions. The only
difference is in the natural language expression (bearing) used
for the has role ontological relation — perhaps to avoid the
seemingly redundant use of ‘role twice. Here, the logical part
is useful to fix the intended meaning of the natural language
expression.</p>
      </sec>
      <sec id="sec-4-3">
        <title>C. Structural correspondence but more specific content in textual definitions than in axioms</title>
        <p>Figure 1 shows that both differentia of the textual definition
of the IDO term amebiasis contain information of the type
expressed in the subclass axioms inherited from the parent
class infection (see annotations in blue). However, the content
conveyed by the parts of the textual definition of amebiasis are
more specific than the properties and classes expressed in the
axiom; they are subproperties of the relations and subclasses
of the relata in the axiom.</p>
        <p>If these inherited parts are relevant for distinguishing all
the subclasses, then all textual definitions at that subclass
level should include that kind of information with the specific
content that actually distinguishes each entity at that level. If
the comparison reveals a match of logical and textual parts at
the level of inherited logical parts, this might be a sign that</p>
        <p>Correspondences in the parts of the textual definition and the axioms of the IDO term dead-end host.
the entity lacks an available subclass axiom. If this is the case,
the textual definition can be used as a basis for creating the
missing axioms.</p>
        <p>We thus recommend that more specific axioms be added
whenever the ontology has the resources to include them, i.e.,
if the terms are defined elsewhere in the ontology. For example,
the axioms specifying the IDO term antiseptic role in Figure 4
could be completed as follows:
subClassOf
realized_by only has_participant
some (anatomical entity</p>
        <p>and part_of some organism)</p>
      </sec>
      <sec id="sec-4-4">
        <title>D. Incomplete textual definitions</title>
        <p>Figure 2 shows that the axiom specifying the term abstract
in the IAO contains the information ‘document part’ which is
absent from the textual definition.</p>
        <p>We recommend that the textual definition be completed
with this information.</p>
      </sec>
      <sec id="sec-4-5">
        <title>E. Missing axioms</title>
        <p>Figure 4 shows that the last part of the textual definition
of the IDO term antiseptic role does not correspond to any
logical part (see annotations in green). However, this more
specific differentia serves to distinguish the defined term from
(1) antimicrobial disposition, which has the same subclass
axiom (in blue), and (2) the sibling term disinfectant role which
is specified by exactly the same axioms. It would therefore be
useful to have an axiom that allows these three terms to be
logically distinguished.</p>
        <p>Here again, we recommend that the axiom be added
whenever the ontology has the resources to include the missing
axiom.</p>
      </sec>
      <sec id="sec-4-6">
        <title>F. Redundant parts of axioms or definitions</title>
        <p>Logical parts may contain axioms specifying other terms.
• the subclass axioms specifying the term ‘antimicrobial’
— the ‘material entity’ (see annotations in red);
• the subclass axioms specifying the term ‘antimicrobial
disposition’ (see annotations in blue).</p>
        <p>This should not be a problem at the logical level, since the
inferences that are made based on the logical expressions end
up being the same.</p>
        <p>We recommend nevertheless that the axiom be simplified
by using the terms that are specified by those axioms. For
example, in this example, the first part of the axiom
(inheres_in some
(’material entity’
and (has_disposition</p>
        <p>some ‘antimicrobial disposition’)))
can be replaced by the following simpler expression:
inheres_in some ‘antimicrobial’
This part of the definition does not
correspond to any logical part.</p>
        <p>Why not replace this with 'antimicrobial'
(the 'material entity')? In a textual definition,
this amounts to defining another term inside
the definition of the defined term.
inheres_in some 'antimicrobial'</p>
        <p>This shorter formulation
says the same thing.</p>
        <p>This is the definition ('Equivalent To') of 'antimicrobial disposition'.
It seems redundant to repeat it in here as it is imported by
that relatum in the previous logical part.</p>
        <p>From these axioms, it seems that 'antiseptic role' and
'antimicrobial disposition' are used synonymously.</p>
        <p>
          In a textual definition, this amounts to defining another
term within the definition of the defined term, as can be
seen in the first differentia of the example (in red), which
contains the definition of antimicrobial. This lacks conciseness
and is generally considered bad practice (see for example [
          <xref ref-type="bibr" rid="ref4">4,
28</xref>
          ]). It unnecessarily overloads the contents of the definition
— imagine if each term of a definition was replaced by its
definition. More importantly, the reader might not recognize
that it is the definition of another term and fail to link the
defined term with that other one.
        </p>
        <p>We thus recommend that whenever a textual definition
contains the definition of another term from the same ontology
or an imported ontology, this sub-definition be replaced by the
corresponding term. In this example, the differentia borne by a
material entity in virtue of the fact that it has an antimicrobial
disposition should be replaced by borne by an antimicrobial.
If the reader does not know the term used in the definition,
she can (in principle) look it up in the ontology. A system of
hyperlinks should also be provided for easier access, as it is
done in electronic dictionaries and in the axioms.</p>
      </sec>
    </sec>
    <sec id="sec-5">
      <title>USING THE CORRESPONDENCES TO HELP IN</title>
      <p>DEFINITION CHECKING</p>
      <p>In ontologies that use semi-automated systems to create
the logical and the corresponding textual definitions, such as
TermGenie4, both definition forms are expected to be
reasonably consistent. However, when definitions are hand-crafted
or imported from other sources, such as other ontologies
or, for example, from Wikipedia, various kinds of errors or
inconsistencies can creep in, as discussed above. Identifying
these problems manually is less rigorous if no guidelines are
provided.</p>
      <p>To increase reliability of definition-content checking, we
propose a method that could be implemented in a computer
program to assist ontology editors/curators in carrying out this
task in a systematic way. This method can also be used as a
guide to manual identification of issues in definitions.</p>
      <p>The method consists in the following steps:
1) Determine whether any of the terms from either the
ontology that is being checked or the imported ontologies
appear in the textual definitions.</p>
      <p>4TermGenie is used for creating definitions in the Gene Ontology (GO),
(http://go.termgenie.org).
2) Get the taxonomic hierarchy of the matched terms to the
top level.
3) Determine whether any of the terms in this hierarchy
corresponds to one of the relata in the axioms.
4) If no correspondence is found between terms in the textual
definition and terms in the axioms, look for a
correspondence between the relations expressed in the differentiae
of the textual definition and the object properties in the
axioms. This can also be done by taking into account the
hierarchy of object properties (if available).
5) If matches are found, tag the corresponding part of the
textual definition with the corresponding relation–relatum
pair (the tagging could supplement the textual definitions
with hyperlinks to the entries of the terms and relations
used in the definition).
6) If mismatches of this kind are identified, manually correct,
modify or complete either the textual definition or the
axioms, or both according to the recommendations put
forward in this paper.</p>
      <p>The proposed method may raise some implementation
challenges. For example, the first and fourth steps require
natural language processing (NLP) methods to correctly
identify existing terms and relations in the textual definition. This
involves using methods to find inexact matches, for example,
plural forms of terms and partial matches, as when only the
head of a complex term is used. Matching ontology relations to
natural language expressions can also be challenging, as there
can be several ways to express a single ontological relation.
A solution for relation identification that also involves NLP
methods would be analyzing large amounts of definitions in
which each part is matched to the corresponding ontological
relation to identify the different corresponding expressions.
This solution might reveal domain-specific expressions for the
more general ontological relations.</p>
      <p>VI.</p>
      <p>OTHER USEFUL WAYS OF CHECKING THE CONTENTS</p>
      <p>OF TEXTUAL DEFINITIONS</p>
      <p>In ontologies, definitions should include only necessary
conditions that have the classical all-some form. Thus, they
should avoid:
• Particularizing expressions such as for example,
especially, in particular, i.e., such as, . . . , and punctuation
signs such as parentheses and colons. Sometimes,
differentia may contain hidden examples that should also be
avoided, as in the definition of leukocyte above which
states found in blood or other tissue. Here, the
specification blood is superfluous since it is embedded in a
conjunction of which the other conjunct is its superclass.
• Overly generalizing expressions such as etc., in general,
normally, . . . , and disjunctions, as these are linguistic
markers of conditions that are not necessary.</p>
      <p>Although particularizing and generalizing expressions can
be useful for a better understanding of the term (as in example
(a) above). These kinds of information should be asserted using
other annotation properties.</p>
      <p>Futhermore, textual definitions should not contain
definitions of other terms, as in the definition of antiseptic role
examined above (Figure 4). Thus, they should avoid:
• Punctuation signs such as parentheses and colons which
are also a sign of new definitions.
• Expressions introducing new information such as i.e., that
is, . . .</p>
      <p>
        The content-related issues presented in this section can
be automatically checked with a simple rule-based program
that uses, for example, lexico-syntactic patterns. This kind
of program can also be used for checking the conformity of
the surface form of the definitions to the editorial line of the
ontology (if any) [
        <xref ref-type="bibr" rid="ref5">5</xref>
        ].
      </p>
      <p>
        In addition to these ontology-specific recommendations,
terminological manuals and guidelines state a number of other
general principles and recommendations relating to definition
writing [
        <xref ref-type="bibr" rid="ref4">4</xref>
        ], [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ]–[
        <xref ref-type="bibr" rid="ref8">8</xref>
        ].5
      </p>
      <p>VII.</p>
    </sec>
    <sec id="sec-6">
      <title>CONCLUSION</title>
      <p>In this communication, we showed through examples that
the defining practices in the ontology world lack systematic
principles and theory. To fill this gap, we presented some
background on textual definitions and axioms in ontologies
from the terminologist’s and logician’s viewpoint, emphasizing
their overlapping and complementary functions.</p>
      <p>Based on a discussion of various kinds of correspondences
between the parts of textual definitions and axioms, we put
forward two primary recommendations to improve the contents
of both textual definitions and axioms:
• Textual definitions and axioms should, whenever possible,
represent the same content. As we hope our examples
have indicated, it is frequently possible to do this with
the resources of the ontology.
• Neither textual definitions nor axioms should include
content that defines another term in the same ontology.</p>
      <p>Finally, we proposed an implementable procedure to help
systematize content-checking of textual and logical definitions
in ontologies.</p>
    </sec>
    <sec id="sec-7">
      <title>VIII.</title>
    </sec>
    <sec id="sec-8">
      <title>ACKNOWLEDGMENT</title>
      <p>Work on this paper was supported by the Swiss National
Science Foundation (SNSF).</p>
      <p>5For a list of (terminology) manuals that contain definition writing principles
and recommendations, as well as other writings on definitions see https://sites.
google.com/site/definitionsportal/literature.</p>
    </sec>
  </body>
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